diff --git a/.gitignore b/.gitignore index f3c206d5..ef8f5c18 100644 --- a/.gitignore +++ b/.gitignore @@ -41,15 +41,6 @@ src/mappings/mondo-sources-all-lexical-2.sssom.tsv # src/ontology/ src/ontology/.template.db -src/ontology/mirror -src/ontology/mirror/* -src/ontology/reports/*.ttl -!src/ontology/reports/README.md -!src/ontology/reports/*excluded_terms_in_mondo_xrefs.tsv -!src/ontology/reports/*exclusion_reasons.robot.template.tsv -!src/ontology/reports/*excluded_terms.txt -src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv - src/ontology/mondo-ingest.owl src/ontology/mondo-ingest.obo src/ontology/mondo-ingest.json @@ -85,6 +76,10 @@ src/ontology/mirror/* src/ontology/reports/*.ttl src/ontology/reports/*.subclass.direct-in-mondo-only.tsv src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv +!src/ontology/reports/README.md +!src/ontology/reports/*excluded_terms_in_mondo_xrefs.tsv +!src/ontology/reports/*exclusion_reasons.robot.template.tsv +!src/ontology/reports/*excluded_terms.txt # todo: These ! patterns don't seem to be an exception to anything that would currently be ignoring them, so I don't think they're needed. Commented out. - Joe 2023/11/16 #!src/ontology/reports/README.md #!src/ontology/reports/*excluded_terms_in_mondo_xrefs.tsv diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index a11fb70f..47ead53f 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | -| Annotation properties | 27 | -| Axioms | 129444 | -| Logical axioms | 16297 | -| Classes | 13204 | +| Annotation properties | 28 | +| Axioms | 133598 | +| Logical axioms | 16341 | +| Classes | 13230 | | Object properties | 0 | | Data properties | 0 | | Individuals | 0 | @@ -32,11 +32,11 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 99916 | -| SubAnnotationPropertyOf | 1 | +| AnnotationAssertion | 103998 | +| SubAnnotationPropertyOf | 2 | | DisjointClasses | 26 | -| Declaration | 13230 | -| SubClassOf | 16271 | +| Declaration | 13257 | +| SubClassOf | 16315 | #### Entity namespaces: axiom counts by namespace @@ -45,7 +45,7 @@ | ------ | ----- | | oboInOwl | 12 | | owl | 2 | -| DOID | 11646 | +| DOID | 11672 | | HP | 114 | | xsd | 1 | | CL | 62 | @@ -55,6 +55,7 @@ | NCBITaxon | 322 | | TRANS | 13 | | SYMP | 306 | +| OMO | 1 | | dc11 | 2 | | rdf | 1 | | CHEBI | 90 | @@ -70,7 +71,7 @@ | Metric | Value | | ------ | ----- | -| Class | 45958 | +| Class | 46072 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index 274a6c32..74065082 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index f4c12227..2946ae5a 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 934abc05..e9144526 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index ba3dc5e9..49beca9a 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 02defde6..2cb4a78d 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,14 +2,14 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/ncit.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 12 | -| Axioms | 623839 | +| Axioms | 1328208 | | Logical axioms | 33655 | | Classes | 15971 | | Object properties | 0 | @@ -32,7 +32,7 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 574182 | +| AnnotationAssertion | 1278551 | | EquivalentClasses | 6260 | | DatatypeDefinition | 19 | | AnnotationPropertyRangeOf | 1 | diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 8643cd86..5c2f32fc 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | -| Annotation properties | 19 | -| Axioms | 355487 | -| Logical axioms | 26217 | -| Classes | 22957 | +| Annotation properties | 20 | +| Axioms | 355637 | +| Logical axioms | 26237 | +| Classes | 22971 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,17 +32,17 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 306290 | -| SubAnnotationPropertyOf | 1 | -| Declaration | 22979 | -| SubClassOf | 26217 | +| AnnotationAssertion | 306404 | +| SubAnnotationPropertyOf | 2 | +| Declaration | 22994 | +| SubClassOf | 26237 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 21515 | +| prefix_unknown | 21529 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | @@ -54,15 +54,15 @@ | IAO | 2 | | biolink | 2 | | RO | 7 | -| obo | 2 | +| obo | 3 | #### Class expressions used | Metric | Value | | ------ | ----- | -| Class | 75381 | -| ObjectSomeValuesFrom | 21262 | +| Class | 75435 | +| ObjectSomeValuesFrom | 21274 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 44cf2a18..92f902db 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 1071ae85..55683d75 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -3,11 +3,11 @@ |:----------------------------------------------------------|--------------------------:| | [NCIT](./mapped_deprecated_ncit.md) | 5 | | [OMIM](./mapped_deprecated_omim.md) | 42 | -| [DOID](./mapped_deprecated_doid.md) | 3 | | [ORDO](./mapped_deprecated_ordo.md) | 167 | | [GARD](./mapped_deprecated_gard.md) | 0 | | [ICD11FOUNDATION](./mapped_deprecated_icd11foundation.md) | 0 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | +| [DOID](./mapped_deprecated_doid.md) | 0 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | `Ontology`: Name of ontology diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md index 04662ede..d37935d6 100644 --- a/docs/reports/mapped_deprecated_doid.md +++ b/docs/reports/mapped_deprecated_doid.md @@ -2,9 +2,6 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv) ### Mapped deprecated terms -| mondo_id | source_id | source | -|:--------------|:---------------------|:-------------------------| -| ID | A oboInOwl:hasDbXref | >A oboInOwl:source | -| MONDO:0010542 | DOID:0081164 | MONDO:equivalentObsolete | -| MONDO:0011893 | DOID:0110578 | MONDO:equivalentObsolete | -| MONDO:0015701 | DOID:0060015 | MONDO:equivalentObsolete | \ No newline at end of file +| mondo_id | source_id | source | +|:-----------|:---------------------|:-------------------| +| ID | A oboInOwl:hasDbXref | >A oboInOwl:source | \ No newline at end of file diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 8980a6a7..ba50dcbe 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,13 +2,13 @@ | Ontology | Tot | |:------------------------------------------------|:------| | [GARD](./migrate_gard.md) | 9,370 | -| [DOID](./migrate_doid.md) | 53 | -| [ICD11FOUNDATION](./migrate_icd11foundation.md) | 4,594 | -| [NCIT](./migrate_ncit.md) | 2,209 | +| [OMIM](./migrate_omim.md) | 9 | +| [ICD11FOUNDATION](./migrate_icd11foundation.md) | 4,593 | +| [DOID](./migrate_doid.md) | 37 | +| [NCIT](./migrate_ncit.md) | 2,211 | | [ORDO](./migrate_ordo.md) | 13 | | [ICD10WHO](./migrate_icd10who.md) | 119 | -| [ICD10CM](./migrate_icd10cm.md) | 1,892 | -| [OMIM](./migrate_omim.md) | 1 | +| [ICD10CM](./migrate_icd10cm.md) | 1,894 | ### Codebook `Ontology`: Name of ontology diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index 8682e9fb..786dafdf 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -2,59 +2,43 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/doid.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:--------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------|:----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:----------------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | -| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | -| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | -| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | -| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | -| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | -| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | -| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | -| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 | -| MONDO:0971031 | auto-brewery syndrome | DOID:0081455 | MONDO:equivalentTo | auto-brewery syndrome | An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. | MONDO:0006504 | -| MONDO:0971032 | bladder fermentation syndrome | DOID:0081456 | MONDO:equivalentTo | bladder fermentation syndrome | An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. | MONDO:0006504 | -| MONDO:0971033 | intrathyroid thymic carcinoma | DOID:0081457 | MONDO:equivalentTo | intrathyroid thymic carcinoma | A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. | MONDO:0015075 | -| MONDO:0971034 | thyroid gland cribriform morular carcinoma | DOID:0081458 | MONDO:equivalentTo | thyroid gland cribriform morular carcinoma | A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. | MONDO:0015075 | -| MONDO:0971035 | thyroid gland mixed medullary and follicular cell-derived carcinoma | DOID:0081459 | MONDO:equivalentTo | thyroid gland mixed medullary and follicular cell-derived carcinoma | A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. | MONDO:0015075 | -| MONDO:0971036 | thyroid gland mucinous carcinoma | DOID:0081460 | MONDO:equivalentTo | thyroid gland mucinous carcinoma | A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. | MONDO:0015075 | -| MONDO:0971183 | autosomal recessive pseudohypoaldosteronism type 1 | DOID:0060854 | MONDO:equivalentTo | autosomal recessive pseudohypoaldosteronism type 1 | | MONDO:0018638|MONDO:0006025 | -| MONDO:0975707 | idiopathic pulmonary fibrosis | DOID:0050156 | MONDO:equivalentTo | idiopathic pulmonary fibrosis | A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. | MONDO:0002771|MONDO:0000426 | -| MONDO:0975708 | dialysis disequilibrium syndrome | DOID:0070564 | MONDO:equivalentTo | dialysis disequilibrium syndrome | | MONDO:0002254 | -| MONDO:0975709 | spermatogenic failure 66 | DOID:0070565 | MONDO:equivalentTo | spermatogenic failure 66 | | MONDO:0015746|MONDO:0006025 | -| MONDO:0975710 | spermatogenic failure 67 | DOID:0070566 | MONDO:equivalentTo | spermatogenic failure 67 | | MONDO:0015746|MONDO:0006025 | -| MONDO:0975711 | spermatogenic failure 68 | DOID:0070567 | MONDO:equivalentTo | spermatogenic failure 68 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975712 | spermatogenic failure 69 | DOID:0070568 | MONDO:equivalentTo | spermatogenic failure 69 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975713 | spermatogenic failure 70 | DOID:0070569 | MONDO:equivalentTo | spermatogenic failure 70 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975714 | spermatogenic failure 71 | DOID:0070570 | MONDO:equivalentTo | spermatogenic failure 71 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975715 | spermatogenic failure 72 | DOID:0070571 | MONDO:equivalentTo | spermatogenic failure 72 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975716 | spermatogenic failure 73 | DOID:0070572 | MONDO:equivalentTo | spermatogenic failure 73 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975717 | spermatogenic failure 74 | DOID:0070573 | MONDO:equivalentTo | spermatogenic failure 74 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975718 | spermatogenic failure 75 | DOID:0070574 | MONDO:equivalentTo | spermatogenic failure 75 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975719 | spermatogenic failure 76 | DOID:0070575 | MONDO:equivalentTo | spermatogenic failure 76 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975720 | spermatogenic failure 77 | DOID:0070576 | MONDO:equivalentTo | spermatogenic failure 77 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975721 | spermatogenic failure 78 | DOID:0070577 | MONDO:equivalentTo | spermatogenic failure 78 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975722 | spermatogenic failure 79 | DOID:0070578 | MONDO:equivalentTo | spermatogenic failure 79 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975723 | spermatogenic failure 80 | DOID:0070579 | MONDO:equivalentTo | spermatogenic failure 80 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975724 | spermatogenic failure 81 | DOID:0070580 | MONDO:equivalentTo | spermatogenic failure 81 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975725 | spermatogenic failure 82 | DOID:0070581 | MONDO:equivalentTo | spermatogenic failure 82 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975726 | spermatogenic failure 83 | DOID:0070582 | MONDO:equivalentTo | spermatogenic failure 83 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975727 | spermatogenic failure 84 | DOID:0070583 | MONDO:equivalentTo | spermatogenic failure 84 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975728 | spermatogenic failure 85 | DOID:0070584 | MONDO:equivalentTo | spermatogenic failure 85 | | MONDO:0015746|MONDO:0006025 | -| MONDO:0975729 | spermatogenic failure 86 | DOID:0070585 | MONDO:equivalentTo | spermatogenic failure 86 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975730 | spermatogenic failure 87 | DOID:0070586 | MONDO:equivalentTo | spermatogenic failure 87 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975731 | spermatogenic failure 88 | DOID:0070587 | MONDO:equivalentTo | spermatogenic failure 88 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975732 | spermatogenic failure 89 | DOID:0070588 | MONDO:equivalentTo | spermatogenic failure 89 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975733 | spermatogenic failure 90 | DOID:0070589 | MONDO:equivalentTo | spermatogenic failure 90 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975734 | spermatogenic failure 91 | DOID:0070590 | MONDO:equivalentTo | spermatogenic failure 91 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975735 | spermatogenic failure 92 | DOID:0070591 | MONDO:equivalentTo | spermatogenic failure 92 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975736 | spermatogenic failure 93 | DOID:0070592 | MONDO:equivalentTo | spermatogenic failure 93 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975737 | spermatogenic failure 94 | DOID:0070593 | MONDO:equivalentTo | spermatogenic failure 94 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975738 | spermatogenic failure 95 | DOID:0070594 | MONDO:equivalentTo | spermatogenic failure 95 | | MONDO:0004983|MONDO:0006025 | -| MONDO:0975739 | x-linked spermatogenic failure 4 | DOID:0070595 | MONDO:equivalentTo | X-linked spermatogenic failure 4 | | MONDO:0004983|MONDO:0000425 | -| MONDO:0975740 | x-linked spermatogenic failure 5 | DOID:0070596 | MONDO:equivalentTo | X-linked spermatogenic failure 5 | | MONDO:0004983|MONDO:0000425 | -| MONDO:0975741 | x-linked spermatogenic failure 6 | DOID:0070597 | MONDO:equivalentTo | X-linked spermatogenic failure 6 | | MONDO:0004983|MONDO:0000425 | -| MONDO:0975742 | x-linked spermatogenic failure 7 | DOID:0070598 | MONDO:equivalentTo | X-linked spermatogenic failure 7 | | MONDO:0004983|MONDO:0020605 | -| MONDO:0975743 | x-linked spermatogenic failure 8 | DOID:0070599 | MONDO:equivalentTo | X-linked spermatogenic failure 8 | | MONDO:0004983|MONDO:0000425 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:----------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:----------------------------------------------------------------------------------------------|:-----------------------------------------------------------------------------------------------------------------------------------------------|:------------------------------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | +| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | +| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | +| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | +| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | +| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | +| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | +| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | +| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 | +| MONDO:0971183 | autosomal recessive pseudohypoaldosteronism type 1 | DOID:0060854 | MONDO:equivalentTo | autosomal recessive pseudohypoaldosteronism type 1 | | MONDO:0018638|MONDO:0006025 | +| MONDO:0975707 | idiopathic pulmonary fibrosis | DOID:0050156 | MONDO:equivalentTo | idiopathic pulmonary fibrosis | A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. | MONDO:0002771|MONDO:0000426 | +| MONDO:0975708 | dialysis disequilibrium syndrome | DOID:0070564 | MONDO:equivalentTo | dialysis disequilibrium syndrome | | MONDO:0002254 | +| MONDO:0975763 | digenic dyskeratosis congenita | DOID:0060984 | MONDO:equivalentTo | digenic dyskeratosis congenita | | MONDO:0015780 | +| MONDO:0975764 | preaxial polydactyly type iv | DOID:0060985 | MONDO:equivalentTo | preaxial polydactyly type IV | | MONDO:0021003|MONDO:0000426 | +| MONDO:0975765 | preaxial polydactyly ii | DOID:0060986 | MONDO:equivalentTo | preaxial polydactyly II | | MONDO:0000426|MONDO:0021003 | +| MONDO:0975766 | preaxial polydactyly i | DOID:0060987 | MONDO:equivalentTo | preaxial polydactyly I | | MONDO:0021003|MONDO:0006025 | +| MONDO:0975767 | pancreatic agenesis 2 | DOID:0060988 | MONDO:equivalentTo | pancreatic agenesis 2 | | MONDO:0002356|MONDO:0006025 | +| MONDO:0975768 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | DOID:0060989 | MONDO:equivalentTo | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | | MONDO:0002254|MONDO:0000426 | +| MONDO:0975769 | congenital disorder of deglycosylation | DOID:0060991 | MONDO:equivalentTo | congenital disorder of deglycosylation | | MONDO:0019214 | +| MONDO:0975770 | bent bone dysplasia syndrome 1 | DOID:0060992 | MONDO:equivalentTo | bent bone dysplasia syndrome 1 | | MONDO:0000833|MONDO:0000426 | +| MONDO:0975771 | bent bone dysplasia syndrome 2 | DOID:0060993 | MONDO:equivalentTo | bent bone dysplasia syndrome 2 | | MONDO:0000833|MONDO:0006025 | +| MONDO:0975772 | encephalopathy due to defective mitochondrial and peroxisomal fission 2 | DOID:0060994 | MONDO:equivalentTo | encephalopathy due to defective mitochondrial and peroxisomal fission 2 | | MONDO:0002254|MONDO:0006025 | +| MONDO:0975773 | intellectual disability and myopathy syndrome | DOID:0070600 | MONDO:equivalentTo | intellectual disability and myopathy syndrome | | MONDO:0002254 | +| MONDO:0975774 | autosomal dominant nonsyndromic deafness 37 | DOID:0070601 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 37 | | MONDO:0019587 | +| MONDO:0975775 | autosomal dominant nonsyndromic deafness 80 | DOID:0070602 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 80 | | MONDO:0019587 | +| MONDO:0975776 | autosomal dominant nonsyndromic deafness 82 | DOID:0070603 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 82 | | MONDO:0019587 | +| MONDO:0975777 | autosomal dominant nonsyndromic deafness 84 | DOID:0070604 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 84 | | MONDO:0019587 | +| MONDO:0975778 | autosomal dominant nonsyndromic deafness 85 | DOID:0070605 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 85 | | MONDO:0019587 | +| MONDO:0975779 | autosomal dominant nonsyndromic deafness 87 | DOID:0070606 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 87 | | MONDO:0019587 | +| MONDO:0975780 | autosomal dominant nonsyndromic deafness 90 | DOID:0070607 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 90 | | MONDO:0019587 | +| MONDO:0975781 | autosomal dominant nonsyndromic deafness 81 | DOID:0070608 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 81 | | MONDO:0019587 | +| MONDO:0975782 | autosomal dominant nonsyndromic deafness 83 | DOID:0070609 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 83 | | MONDO:0019587 | +| MONDO:0975783 | autosomal dominant nonsyndromic deafness 86 | DOID:0070610 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 86 | | MONDO:0019587 | +| MONDO:0975784 | autosomal dominant nonsyndromic deafness 88 | DOID:0070611 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 88 | | MONDO:0019587 | +| MONDO:0975785 | autosomal dominant nonsyndromic deafness 89 | DOID:0070612 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 89 | | MONDO:0019587 | +| MONDO:0975786 | familial renal glucosuria | DOID:0070613 | MONDO:equivalentTo | familial renal glucosuria | | MONDO:0000426|MONDO:0009297|MONDO:0006025 | +| MONDO:0975787 | chromosome 11 partial duplication syndrome | DOID:0070614 | MONDO:equivalentTo | chromosome 11 partial duplication syndrome | | MONDO:0000762 | \ No newline at end of file diff --git a/docs/reports/migrate_icd10cm.md b/docs/reports/migrate_icd10cm.md index 7efe8005..cba5d329 100644 --- a/docs/reports/migrate_icd10cm.md +++ b/docs/reports/migrate_icd10cm.md @@ -1896,4 +1896,6 @@ | MONDO:0957527 | obstructive hypertrophic cardiomyopathy | ICD10CM:I42.1 | MONDO:equivalentTo | Obstructive hypertrophic cardiomyopathy | | MONDO:0004994 | | MONDO:0971039 | besnier's prurigo | ICD10CM:L20.0 | MONDO:equivalentTo | Besnier's prurigo | | MONDO:0004980 | | MONDO:0971040 | other atopic dermatitis | ICD10CM:L20.8 | MONDO:equivalentTo | Other atopic dermatitis | | MONDO:0004980 | -| MONDO:0971041 | atopic dermatitis, unspecified | ICD10CM:L20.9 | MONDO:equivalentTo | Atopic dermatitis, unspecified | | MONDO:0004980 | \ No newline at end of file +| MONDO:0971041 | atopic dermatitis, unspecified | ICD10CM:L20.9 | MONDO:equivalentTo | Atopic dermatitis, unspecified | | MONDO:0004980 | +| MONDO:0975789 | longstanding persistent atrial fibrillation | ICD10CM:I48.11 | MONDO:equivalentTo | Longstanding persistent atrial fibrillation | | MONDO:1030009 | +| MONDO:0975790 | other persistent atrial fibrillation | ICD10CM:I48.19 | MONDO:equivalentTo | Other persistent atrial fibrillation | | MONDO:1030009 | \ No newline at end of file diff --git a/docs/reports/migrate_icd11foundation.md b/docs/reports/migrate_icd11foundation.md index ad81496c..6536a605 100644 --- a/docs/reports/migrate_icd11foundation.md +++ b/docs/reports/migrate_icd11foundation.md @@ -3559,7 +3559,6 @@ | MONDO:0974619 | ideational apraxia | icd11.foundation:541312183 | MONDO:equivalentTo | Ideational apraxia | | MONDO:0000665 | | MONDO:0974620 | congenital hypophosphatasia | icd11.foundation:542239706 | MONDO:equivalentTo | Congenital hypophosphatasia | | MONDO:0018570 | | MONDO:0974621 | acute on chronic cholecystitis | icd11.foundation:542292436 | MONDO:equivalentTo | Acute on chronic cholecystitis | | MONDO:0043994 | -| MONDO:0974622 | paroxysmal atrial fibrillation | icd11.foundation:542703670 | MONDO:equivalentTo | Paroxysmal atrial fibrillation | Recurrent AF (>=2 episodes) that terminates spontaneously within 7 days or less (usually within 24 hours). | MONDO:0004981 | | MONDO:0974623 | unspecified frostbite of trunk, not elsewhere classified | icd11.foundation:542724831 | MONDO:equivalentTo | Unspecified frostbite of trunk, not elsewhere classified | | MONDO:0800177 | | MONDO:0974624 | essential (primary) hypertension, unspecified, with mention of hypertensive crisis | icd11.foundation:543412184 | MONDO:equivalentTo | Essential (primary) hypertension, unspecified, with mention of hypertensive crisis | This is when the blood pressure in the arteries is elevated, and is essential (primary), unspecified, with mention of hypertensive crisis. | MONDO:0001134 | | MONDO:0974625 | hereditary orotic aciduria type 1 | icd11.foundation:543808207 | MONDO:equivalentTo | Hereditary orotic aciduria type 1 | | MONDO:0009797 | diff --git a/docs/reports/migrate_ncit.md b/docs/reports/migrate_ncit.md index 7c98aafc..a06824af 100644 --- a/docs/reports/migrate_ncit.md +++ b/docs/reports/migrate_ncit.md @@ -2,2215 +2,2217 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ncit.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:---------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:---------------------------------------------------------------------------------------------------------------|:--------------|:--------------------------------------------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0853241 | primary central nervous system neoplasm | NCIT:C102871 | MONDO:equivalentTo | Primary Central Nervous System Neoplasm | | MONDO:0006130 | -| MONDO:0853254 | adrenal cortical carcinoma by ensat stage | NCIT:C104030 | MONDO:equivalentTo | Adrenal Cortical Carcinoma by ENSAT Stage | | MONDO:0006639 | -| MONDO:0853255 | ovarian high grade serous adenocarcinoma | NCIT:C105555 | MONDO:equivalentTo | Ovarian High Grade Serous Adenocarcinoma | | MONDO:0005211 | -| MONDO:0853256 | ovarian low grade serous adenocarcinoma | NCIT:C105556 | MONDO:equivalentTo | Ovarian Low Grade Serous Adenocarcinoma | | MONDO:0005211 | -| MONDO:0853260 | uveal melanoma by gene expression profile | NCIT:C111030 | MONDO:equivalentTo | Uveal Melanoma by Gene Expression Profile | | MONDO:0006486 | -| MONDO:0853262 | glioblastoma by gene expression profile | NCIT:C111691 | MONDO:equivalentTo | Glioblastoma by Gene Expression Profile | | MONDO:0018177 | -| MONDO:0853267 | thymoma by masaoka-koga stage | NCIT:C112006 | MONDO:equivalentTo | Thymoma by Masaoka-Koga Stage | | MONDO:0006456 | -| MONDO:0853279 | uterine carcinosarcoma, homologous type | NCIT:C113238 | MONDO:equivalentTo | Uterine Carcinosarcoma, Homologous Type | | MONDO:0006485 | -| MONDO:0853280 | uterine carcinosarcoma, heterologous type | NCIT:C113239 | MONDO:equivalentTo | Uterine Carcinosarcoma, Heterologous Type | | MONDO:0006485 | -| MONDO:0853284 | main duct pancreatic intraductal papillary-mucinous neoplasm | NCIT:C113664 | MONDO:equivalentTo | Main Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm | | MONDO:0004286 | -| MONDO:0853285 | branch duct pancreatic intraductal papillary-mucinous neoplasm | NCIT:C113665 | MONDO:equivalentTo | Branch Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm | | MONDO:0004286 | -| MONDO:0853286 | mixed type pancreatic intraductal papillary-mucinous neoplasm | NCIT:C113667 | MONDO:equivalentTo | Mixed Type Pancreatic Intraductal Papillary-Mucinous Neoplasm | | MONDO:0004286 | -| MONDO:0853303 | adult undifferentiated high grade pleomorphic sarcoma of bone | NCIT:C114782 | MONDO:equivalentTo | Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone | | MONDO:0002618 | -| MONDO:0853306 | metastatic malignant neoplasm in the soft tissues | NCIT:C114831 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Soft Tissues | | MONDO:0024880 | -| MONDO:0853313 | adult epithelioid hemangioendothelioma | NCIT:C114923 | MONDO:equivalentTo | Adult Epithelioid Hemangioendothelioma | | MONDO:0015523 | -| MONDO:0853316 | central nervous system hodgkin lymphoma | NCIT:C114951 | MONDO:equivalentTo | Central Nervous System Hodgkin Lymphoma | | MONDO:0004952|MONDO:0002571 | -| MONDO:0853326 | adult fibrolamellar carcinoma | NCIT:C114992 | MONDO:equivalentTo | Adult Fibrolamellar Carcinoma | | MONDO:0016216|MONDO:0006210 | -| MONDO:0853331 | hepatocellular carcinoma by bclc stage | NCIT:C115132 | MONDO:equivalentTo | Hepatocellular Carcinoma by BCLC Stage | | MONDO:0007256 | -| MONDO:0853337 | adult myelodysplastic syndrome | NCIT:C115153 | MONDO:equivalentTo | Adult Myelodysplastic Syndrome | | MONDO:0018881 | -| MONDO:0853343 | distal urethral carcinoma | NCIT:C115210 | MONDO:equivalentTo | Distal Urethral Carcinoma | | MONDO:0021327 | -| MONDO:0853344 | familial testicular germ cell tumor | NCIT:C115211 | MONDO:equivalentTo | Familial Testicular Germ Cell Tumor | | MONDO:0010108 | -| MONDO:0853348 | proximal urethral carcinoma | NCIT:C115334 | MONDO:equivalentTo | Proximal Urethral Carcinoma | | MONDO:0021327 | -| MONDO:0853359 | invasive bladder urothelial carcinoma associated with urethral carcinoma | NCIT:C115966 | MONDO:equivalentTo | Invasive Bladder Urothelial Carcinoma Associated with Urethral Carcinoma | | MONDO:0040678 | -| MONDO:0853386 | congenital cystic hygroma | NCIT:C116899 | MONDO:equivalentTo | Congenital Cystic Hygroma | | MONDO:0009761 | -| MONDO:0853405 | anaplastic plasmacytoma | NCIT:C118421 | MONDO:equivalentTo | Anaplastic Plasmacytoma | | MONDO:0005615|MONDO:0020633 | -| MONDO:0853427 | adult penile carcinoma | NCIT:C118820 | MONDO:equivalentTo | Adult Penile Carcinoma | | MONDO:0006360 | -| MONDO:0853431 | adult salivary gland carcinoma | NCIT:C118825 | MONDO:equivalentTo | Adult Salivary Gland Carcinoma | | MONDO:0000521 | -| MONDO:0853434 | orbital melanoma | NCIT:C118828 | MONDO:equivalentTo | Orbital Melanoma | | MONDO:0002889|MONDO:0005105 | -| MONDO:0853464 | malignant kidney neoplasm except pelvis | NCIT:C120456 | MONDO:equivalentTo | Malignant Kidney Neoplasm Except Pelvis | | MONDO:0002367 | -| MONDO:0853467 | mammary-type myofibroblastoma | NCIT:C121181 | MONDO:equivalentTo | Mammary-Type Myofibroblastoma | | MONDO:0040675 | -| MONDO:0853473 | leiomyosarcoma of deep soft tissue | NCIT:C121571 | MONDO:equivalentTo | Leiomyosarcoma of Deep Soft Tissue | | MONDO:0018078|MONDO:0005058 | -| MONDO:0853476 | spindle cell/sclerosing rhabdomyosarcoma | NCIT:C121654 | MONDO:equivalentTo | Spindle Cell/Sclerosing Rhabdomyosarcoma | | MONDO:0005212 | -| MONDO:0853478 | soft tissue angiosarcoma | NCIT:C121671 | MONDO:equivalentTo | Soft Tissue Angiosarcoma | | MONDO:0018078|MONDO:0016982 | -| MONDO:0853479 | conventional schwannoma | NCIT:C121677 | MONDO:equivalentTo | Conventional Schwannoma | | MONDO:0002546 | -| MONDO:0853481 | solitary circumscribed neuroma | NCIT:C121681 | MONDO:equivalentTo | Solitary Circumscribed Neuroma | | MONDO:0002547|MONDO:0000648 | -| MONDO:0853483 | hybrid nerve sheath tumor | NCIT:C121686 | MONDO:equivalentTo | Hybrid Nerve Sheath Tumor | | MONDO:0021043|MONDO:0002547|MONDO:0000648 | -| MONDO:0853491 | malignant mixed tumor, not otherwise specified | NCIT:C121787 | MONDO:equivalentTo | Malignant Mixed Tumor, Not Otherwise Specified | | MONDO:0003158|MONDO:0005853 | -| MONDO:0853492 | benign phosphaturic mesenchymal tumor | NCIT:C121788 | MONDO:equivalentTo | Benign Phosphaturic Mesenchymal Tumor | | MONDO:0006368|MONDO:0000654 | -| MONDO:0853493 | malignant phosphaturic mesenchymal tumor | NCIT:C121789 | MONDO:equivalentTo | Malignant Phosphaturic Mesenchymal Tumor | | MONDO:0006368|MONDO:0002927 | -| MONDO:0853494 | sclerosing pecoma | NCIT:C121790 | MONDO:equivalentTo | Sclerosing PEComa | | MONDO:0006359 | -| MONDO:0853495 | undifferentiated soft tissue sarcoma | NCIT:C121793 | MONDO:equivalentTo | Undifferentiated Soft Tissue Sarcoma | | MONDO:0018078 | -| MONDO:0853498 | osteochondromyxoma | NCIT:C121842 | MONDO:equivalentTo | Osteochondromyxoma | | MONDO:0024470|MONDO:0000631 | -| MONDO:0853499 | subungual exostosis | NCIT:C121844 | MONDO:equivalentTo | Subungual Exostosis | | MONDO:0024470 | -| MONDO:0853500 | bizarre parosteal osteochondromatous proliferation | NCIT:C121845 | MONDO:equivalentTo | Bizarre Parosteal Osteochondromatous Proliferation | | MONDO:0024470 | -| MONDO:0853501 | intermediate chondrogenic neoplasm | NCIT:C121846 | MONDO:equivalentTo | Intermediate Chondrogenic Neoplasm | | MONDO:0024469 | -| MONDO:0853502 | chondrosarcoma, grade 2 | NCIT:C121870 | MONDO:equivalentTo | Chondrosarcoma, Grade 2 | | MONDO:0008977 | -| MONDO:0853503 | chondrosarcoma, grade 3 | NCIT:C121871 | MONDO:equivalentTo | Chondrosarcoma, Grade 3 | | MONDO:0008977 | -| MONDO:0853504 | benign notochordal cell tumor | NCIT:C121901 | MONDO:equivalentTo | Benign Notochordal Cell Tumor | | MONDO:0002597|MONDO:0000631 | -| MONDO:0853507 | intermediate osteogenic neoplasm | NCIT:C121925 | MONDO:equivalentTo | Intermediate Osteogenic Neoplasm | | MONDO:0045053 | -| MONDO:0853508 | intermediate bone neoplasm | NCIT:C121926 | MONDO:equivalentTo | Intermediate Bone Neoplasm | | MONDO:0019060 | -| MONDO:0853510 | primary bone non-hodgkin lymphoma | NCIT:C121930 | MONDO:equivalentTo | Primary Bone Non-Hodgkin Lymphoma | | MONDO:0017814|MONDO:0018908 | -| MONDO:0853512 | bone epithelioid hemangioendothelioma | NCIT:C121941 | MONDO:equivalentTo | Bone Epithelioid Hemangioendothelioma | | MONDO:0024499|MONDO:0002129|MONDO:0015523 | -| MONDO:0853515 | acute lymphoblastic leukemia by gene expression profile | NCIT:C121973 | MONDO:equivalentTo | Acute Lymphoblastic Leukemia by Gene Expression Profile | | MONDO:0004967 | -| MONDO:0853523 | borderline ovarian serous tumor/atypical proliferative ovarian serous tumor | NCIT:C122584 | MONDO:equivalentTo | Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor | | MONDO:0020662 | -| MONDO:0853524 | borderline ovarian serous tumor-micropapillary variant/non-invasive low grade ovarian serous carcinoma | NCIT:C122585 | MONDO:equivalentTo | Borderline Ovarian Serous Tumor-Micropapillary Variant/Non-Invasive Low Grade Ovarian Serous Carcinoma | | MONDO:0020662 | -| MONDO:0853525 | infant leukemia | NCIT:C122603 | MONDO:equivalentTo | Infant Leukemia | | MONDO:0004355 | -| MONDO:0853528 | childhood acute myeloid leukemia not otherwise specified | NCIT:C122625 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia Not Otherwise Specified | | MONDO:0004996|MONDO:0015667 | -| MONDO:0853529 | hypoplastic myelodysplastic syndrome | NCIT:C122686 | MONDO:equivalentTo | Hypoplastic Myelodysplastic Syndrome | | MONDO:0018881 | -| MONDO:0853530 | cytogenetically normal acute myeloid leukemia | NCIT:C122687 | MONDO:equivalentTo | Cytogenetically Normal Acute Myeloid Leukemia | | MONDO:0018874 | -| MONDO:0853532 | childhood acute myeloid leukemia with abnormalities of chromosome 5q | NCIT:C122725 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q | | MONDO:0004996 | -| MONDO:0853533 | childhood acute myeloid leukemia with abnormalities of chromosome 7 | NCIT:C122726 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 | | MONDO:0004996 | -| MONDO:0853659 | childhood lymphomatoid granulomatosis | NCIT:C123392 | MONDO:equivalentTo | Childhood Lymphomatoid Granulomatosis | | MONDO:0019466 | -| MONDO:0853660 | childhood langerhans cell histiocytosis with risk organ involvement | NCIT:C123395 | MONDO:equivalentTo | Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement | | MONDO:0017025 | -| MONDO:0853661 | childhood langerhans cell histiocytosis without risk organ involvement | NCIT:C123396 | MONDO:equivalentTo | Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement | | MONDO:0017025 | -| MONDO:0853668 | fusion-positive rhabdomyosarcoma | NCIT:C123735 | MONDO:equivalentTo | Fusion-Positive Rhabdomyosarcoma | | MONDO:0005212 | -| MONDO:0853669 | fusion-negative rhabdomyosarcoma | NCIT:C123736 | MONDO:equivalentTo | Fusion-Negative Rhabdomyosarcoma | | MONDO:0005212 | -| MONDO:0853671 | refractory malignant germ cell tumor | NCIT:C123739 | MONDO:equivalentTo | Refractory Malignant Germ Cell Tumor | | MONDO:0006290|MONDO:0036501 | -| MONDO:0853673 | childhood germinomatous germ cell tumor | NCIT:C123838 | MONDO:equivalentTo | Childhood Germinomatous Germ Cell Tumor | | MONDO:0003751|MONDO:0020580 | -| MONDO:0853675 | childhood nongerminomatous germ cell tumor | NCIT:C123841 | MONDO:equivalentTo | Childhood Nongerminomatous Germ Cell Tumor | | MONDO:0003751|MONDO:0021656 | -| MONDO:0853680 | childhood mixed germ cell tumor | NCIT:C123848 | MONDO:equivalentTo | Childhood Mixed Germ Cell Tumor | | MONDO:0004479|MONDO:0015864|MONDO:0005853 | -| MONDO:0853693 | childhood astrocytoma | NCIT:C124275 | MONDO:equivalentTo | Childhood Astrocytoma | | MONDO:0002505|MONDO:0019781 | -| MONDO:0853694 | childhood atypical choroid plexus papilloma | NCIT:C124291 | MONDO:equivalentTo | Childhood Atypical Choroid Plexus Papilloma | | MONDO:0002684|MONDO:0024744 | -| MONDO:0853721 | ovarian adenomatoid tumor | NCIT:C126331 | MONDO:equivalentTo | Ovarian Adenomatoid Tumor | | MONDO:0004230|MONDO:0000646 | -| MONDO:0853728 | chronic eosinophilic leukemia with fip1l1-pdgfra | NCIT:C126351 | MONDO:equivalentTo | Chronic Eosinophilic Leukemia with FIP1L1-PDGFRA | | MONDO:0015689|MONDO:0001014 | -| MONDO:0853729 | primary peritoneal high grade serous adenocarcinoma | NCIT:C126353 | MONDO:equivalentTo | Primary Peritoneal High Grade Serous Adenocarcinoma | | MONDO:0006386 | -| MONDO:0853730 | primary peritoneal low grade serous adenocarcinoma | NCIT:C126354 | MONDO:equivalentTo | Primary Peritoneal Low Grade Serous Adenocarcinoma | | MONDO:0006386 | -| MONDO:0853731 | peritoneal desmoplastic small round cell tumor | NCIT:C126356 | MONDO:equivalentTo | Peritoneal Desmoplastic Small Round Cell Tumor | | MONDO:0019373|MONDO:0002087 | -| MONDO:0853732 | pelvic fibromatosis | NCIT:C126358 | MONDO:equivalentTo | Pelvic Fibromatosis | | MONDO:0007608 | -| MONDO:0853733 | abdominal inflammatory myofibroblastic tumor | NCIT:C126359 | MONDO:equivalentTo | Abdominal Inflammatory Myofibroblastic Tumor | | MONDO:0015798 | -| MONDO:0853734 | thyroid gland cribriform morular carcinoma | NCIT:C126408 | MONDO:equivalentTo | Thyroid Gland Cribriform Morular Carcinoma | | MONDO:0015075 | -| MONDO:0853735 | thyroid gland papillary carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma | NCIT:C126410 | MONDO:equivalentTo | Thyroid Gland Papillary Carcinoma with Fibromatosis/Fasciitis-Like/Desmoid-Type Stroma | | MONDO:0005075 | -| MONDO:0853736 | fallopian tube high grade serous adenocarcinoma | NCIT:C126456 | MONDO:equivalentTo | Fallopian Tube High Grade Serous Adenocarcinoma | | MONDO:0006208 | -| MONDO:0853738 | fallopian tube lymphoma | NCIT:C126464 | MONDO:equivalentTo | Fallopian Tube Lymphoma | | MONDO:0002158|MONDO:0017207 | -| MONDO:0853742 | broad ligament serous adenocarcinoma | NCIT:C126479 | MONDO:equivalentTo | Broad Ligament Serous Adenocarcinoma | | MONDO:0002741|MONDO:0005278 | -| MONDO:0853743 | oropharyngeal poorly differentiated carcinoma | NCIT:C126750 | MONDO:equivalentTo | Oropharyngeal Poorly Differentiated Carcinoma | | MONDO:0044704 | -| MONDO:0853745 | endometrial dedifferentiated carcinoma | NCIT:C126769 | MONDO:equivalentTo | Endometrial Dedifferentiated Carcinoma | | MONDO:0002447 | -| MONDO:0853748 | uterine corpus hydropic leiomyoma | NCIT:C126975 | MONDO:equivalentTo | Uterine Corpus Hydropic Leiomyoma | | MONDO:0007886 | -| MONDO:0853749 | uterine corpus high grade endometrial stromal sarcoma | NCIT:C126998 | MONDO:equivalentTo | Uterine Corpus High Grade Endometrial Stromal Sarcoma | | MONDO:0002923 | -| MONDO:0853751 | benign uterine corpus pecoma | NCIT:C127071 | MONDO:equivalentTo | Benign Uterine Corpus PEComa | | MONDO:0004221|MONDO:0021525|MONDO:0020581 | -| MONDO:0853753 | uterine corpus germ cell tumor | NCIT:C127077 | MONDO:equivalentTo | Uterine Corpus Germ Cell Tumor | | MONDO:0021254|MONDO:0018201 | -| MONDO:0853764 | cervical neuroendocrine neoplasm | NCIT:C128041 | MONDO:equivalentTo | Cervical Neuroendocrine Neoplasm | | MONDO:0019496|MONDO:0021230 | -| MONDO:0853771 | vaginal papillary carcinoma | NCIT:C128060 | MONDO:equivalentTo | Vaginal Papillary Carcinoma | | MONDO:0002979|MONDO:0006490 | -| MONDO:0853775 | ovarian cancer by figo stage | NCIT:C128081 | MONDO:equivalentTo | Ovarian Cancer by FIGO Stage | | MONDO:0005140 | -| MONDO:0853776 | ovarian cancer by ajcc v6 and v7 stage | NCIT:C128106 | MONDO:equivalentTo | Ovarian Cancer by AJCC v6 and v7 Stage | | MONDO:0005140 | -| MONDO:0853779 | vaginal germ cell tumor | NCIT:C128112 | MONDO:equivalentTo | Vaginal Germ Cell Tumor | | MONDO:0005040|MONDO:0021050 | -| MONDO:0853781 | vulvar squamous intraepithelial lesion, hpv-associated | NCIT:C128142 | MONDO:equivalentTo | Vulvar Squamous Intraepithelial Lesion, HPV-Associated | | MONDO:0005198 | -| MONDO:0853784 | vulvar adenocarcinoma of mammary gland type | NCIT:C128162 | MONDO:equivalentTo | Vulvar Adenocarcinoma of Mammary Gland Type | | MONDO:0024336 | -| MONDO:0853787 | vulvar mucinous adenocarcinoma, intestinal-type | NCIT:C128166 | MONDO:equivalentTo | Vulvar Mucinous Adenocarcinoma, Intestinal-Type | | MONDO:0024336|MONDO:0006254|MONDO:0004957 | -| MONDO:0853788 | vulvar keratoacanthoma | NCIT:C128167 | MONDO:equivalentTo | Vulvar Keratoacanthoma | | MONDO:0024609|MONDO:0002527 | -| MONDO:0853797 | vulvar germ cell tumor | NCIT:C128294 | MONDO:equivalentTo | Vulvar Germ Cell Tumor | | MONDO:0005040|MONDO:0021049 | -| MONDO:0853835 | b acute lymphoblastic leukemia, philadelphia chromosome negative | NCIT:C128629 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative | | MONDO:0020511 | -| MONDO:0853837 | nk-cell lymphoma, unclassifiable | NCIT:C128697 | MONDO:equivalentTo | NK-Cell Lymphoma, Unclassifiable | | MONDO:0000430 | -| MONDO:0853840 | cutaneous malignant melanoma 2 | NCIT:C128801 | MONDO:equivalentTo | Cutaneous Malignant Melanoma 2 | | MONDO:0018961 | -| MONDO:0853846 | glioblastoma, not otherwise specified | NCIT:C129295 | MONDO:equivalentTo | Glioblastoma, Not Otherwise Specified | | MONDO:0018177 | -| MONDO:0853849 | oligodendroglioma, idh-mutant and 1p/19q-codeleted | NCIT:C129318 | MONDO:equivalentTo | Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted | | MONDO:0016695 | -| MONDO:0853850 | oligodendroglioma, not otherwise specified | NCIT:C129319 | MONDO:equivalentTo | Oligodendroglioma, Not Otherwise Specified | | MONDO:0016695 | -| MONDO:0853851 | anaplastic oligodendroglioma, idh-mutant and 1p/19q-codeleted | NCIT:C129321 | MONDO:equivalentTo | Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted | | MONDO:0016696 | -| MONDO:0853852 | anaplastic oligodendroglioma, not otherwise specified | NCIT:C129322 | MONDO:equivalentTo | Anaplastic Oligodendroglioma, Not Otherwise Specified | | MONDO:0016696 | -| MONDO:0853853 | oligoastrocytoma, not otherwise specified | NCIT:C129323 | MONDO:equivalentTo | Oligoastrocytoma, Not Otherwise Specified | | MONDO:0016702 | -| MONDO:0853854 | anaplastic oligoastrocytoma, not otherwise specified | NCIT:C129324 | MONDO:equivalentTo | Anaplastic Oligoastrocytoma, Not Otherwise Specified | | MONDO:0016703 | -| MONDO:0853855 | diffuse glioma | NCIT:C129325 | MONDO:equivalentTo | Diffuse Glioma | | MONDO:0021042 | -| MONDO:0853856 | anaplastic pleomorphic xanthoastrocytoma | NCIT:C129327 | MONDO:equivalentTo | Anaplastic Pleomorphic Xanthoastrocytoma | | MONDO:0019781|MONDO:0021640|MONDO:0020633 | -| MONDO:0853857 | diffuse leptomeningeal glioneuronal tumor | NCIT:C129424 | MONDO:equivalentTo | Diffuse Leptomeningeal Glioneuronal Tumor | | MONDO:0016729 | -| MONDO:0853858 | multinodular and vacuolated neuronal tumor | NCIT:C129427 | MONDO:equivalentTo | Multinodular and Vacuolated Neuronal Tumor | | MONDO:0021374|MONDO:0016729|MONDO:0021632 | -| MONDO:0853859 | medulloblastoma molecular subtypes | NCIT:C129439 | MONDO:equivalentTo | Medulloblastoma Molecular Subtypes | | MONDO:0007959 | -| MONDO:0853860 | medulloblastoma, not otherwise specified | NCIT:C129447 | MONDO:equivalentTo | Medulloblastoma, Not Otherwise Specified | | MONDO:0007959 | -| MONDO:0853861 | small cell adenocarcinoma | NCIT:C129449 | MONDO:equivalentTo | Small Cell Adenocarcinoma | | MONDO:0004970 | -| MONDO:0853862 | central nervous system solitary fibrous tumor | NCIT:C129526 | MONDO:equivalentTo | Central Nervous System Solitary Fibrous Tumor | | MONDO:0016238|MONDO:0003244 | -| MONDO:0853863 | central nervous system mesenchymal chondrosarcoma | NCIT:C129534 | MONDO:equivalentTo | Central Nervous System Mesenchymal Chondrosarcoma | | MONDO:0002217|MONDO:0006853 | -| MONDO:0853864 | central nervous system epithelioid hemangioendothelioma | NCIT:C129536 | MONDO:equivalentTo | Central Nervous System Epithelioid Hemangioendothelioma | | MONDO:0037740|MONDO:0015523 | -| MONDO:0853865 | central nervous system angiolipoma | NCIT:C129538 | MONDO:equivalentTo | Central Nervous System Angiolipoma | | MONDO:0003844|MONDO:0006085 | -| MONDO:0853866 | central nervous system undifferentiated pleomorphic sarcoma | NCIT:C129566 | MONDO:equivalentTo | Central Nervous System Undifferentiated Pleomorphic Sarcoma | | MONDO:0002217|MONDO:0002142 | -| MONDO:0853868 | central nervous system anaplastic large cell lymphoma, alk-positive | NCIT:C129598 | MONDO:equivalentTo | Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Positive | | MONDO:0006128|MONDO:0017602 | -| MONDO:0853869 | central nervous system anaplastic large cell lymphoma, alk-negative | NCIT:C129599 | MONDO:equivalentTo | Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Negative | | MONDO:0006128|MONDO:0017603 | -| MONDO:0853870 | central nervous system intravascular large b-cell lymphoma | NCIT:C129602 | MONDO:equivalentTo | Central Nervous System Intravascular Large B-Cell Lymphoma | | MONDO:0017596|MONDO:0020324 | -| MONDO:0853881 | acute myeloid leukemia with biallelic cebpa mutation | NCIT:C129782 | MONDO:equivalentTo | Acute Myeloid Leukemia with Biallelic CEBPA Mutation | | MONDO:0017894 | -| MONDO:0853882 | acute myeloid leukemia with monoallelic cebpa mutation | NCIT:C129783 | MONDO:equivalentTo | Acute Myeloid Leukemia with Monoallelic CEBPA Mutation | | MONDO:0017894 | -| MONDO:0853884 | b lymphoblastic leukemia/lymphoma, bcr-abl1-like | NCIT:C129787 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | | MONDO:0035605 | -| MONDO:0853887 | metastatic transitional cell carcinoma | NCIT:C129828 | MONDO:equivalentTo | Metastatic Transitional Cell Carcinoma | | MONDO:0024879|MONDO:0006474 | -| MONDO:0853888 | chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)(q31;p12) | NCIT:C129852 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) | | MONDO:0015690 | -| MONDO:0853892 | chronic myelomonocytic leukemia-0 | NCIT:C130035 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia-0 | | MONDO:0020311 | -| MONDO:0853893 | myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia | NCIT:C130037 | MONDO:equivalentTo | Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia | | MONDO:0019157 | -| MONDO:0853894 | b lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21 | NCIT:C130039 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 | | MONDO:0035605 | -| MONDO:0853943 | anastomosing hemangioma | NCIT:C131760 | MONDO:equivalentTo | Anastomosing Hemangioma | | MONDO:0002407 | -| MONDO:0853956 | acute megakaryoblastic leukemia with cbfa2t3-glis2 | NCIT:C132109 | MONDO:equivalentTo | Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2 | | MONDO:0004996 | -| MONDO:0853959 | small intestinal myeloid sarcoma | NCIT:C132260 | MONDO:equivalentTo | Small Intestinal Myeloid Sarcoma | | MONDO:0000956|MONDO:0006861 | -| MONDO:0853961 | atypical pituitary neuroendocrine tumor | NCIT:C132296 | MONDO:equivalentTo | Atypical Pituitary Neuroendocrine Tumor | | MONDO:0006373 | -| MONDO:0853963 | lip and oral cavity cancer by ajcc v8 stage | NCIT:C132728 | MONDO:equivalentTo | Lip and Oral Cavity Cancer by AJCC v8 Stage | | MONDO:0023644 | -| MONDO:0853964 | lip and oral cavity cancer by ajcc v6 and v7 stage | NCIT:C132736 | MONDO:equivalentTo | Lip and Oral Cavity Cancer by AJCC v6 and v7 Stage | | MONDO:0023644 | -| MONDO:0853965 | major salivary gland cancer by ajcc v7 stage | NCIT:C132778 | MONDO:equivalentTo | Major Salivary Gland Cancer by AJCC v7 Stage | | MONDO:0006284 | -| MONDO:0853966 | major salivary gland cancer by ajcc v8 stage | NCIT:C132779 | MONDO:equivalentTo | Major Salivary Gland Cancer by AJCC v8 Stage | | MONDO:0006284 | -| MONDO:0853968 | pharyngeal carcinoma by ajcc v8 stage | NCIT:C132814 | MONDO:equivalentTo | Pharyngeal Carcinoma by AJCC v8 Stage | | MONDO:0021345 | -| MONDO:0853973 | metastatic malignant germ cell tumor | NCIT:C132854 | MONDO:equivalentTo | Metastatic Malignant Germ Cell Tumor | | MONDO:0006290|MONDO:0024880 | -| MONDO:0853979 | sinonasal cancer by ajcc v8 stage | NCIT:C133074 | MONDO:equivalentTo | Sinonasal Cancer by AJCC v8 Stage | | MONDO:0056819 | -| MONDO:0853980 | lung adenofibroma | NCIT:C133091 | MONDO:equivalentTo | Lung Adenofibroma | | MONDO:0021043|MONDO:0002732 | -| MONDO:0853981 | laryngeal cancer by ajcc v8 stage | NCIT:C133156 | MONDO:equivalentTo | Laryngeal Cancer by AJCC v8 Stage | | MONDO:0002358 | -| MONDO:0853984 | cutaneous squamous cell carcinoma of the head and neck | NCIT:C133252 | MONDO:equivalentTo | Cutaneous Squamous Cell Carcinoma of the Head and Neck | | MONDO:0002529|MONDO:0010150 | -| MONDO:0853986 | esophageal cancer by ajcc v8 stage | NCIT:C133399 | MONDO:equivalentTo | Esophageal Cancer by AJCC v8 Stage | | MONDO:0019086 | -| MONDO:0853991 | gastroesophageal junction adenocarcinoma by ajcc v8 stage | NCIT:C133548 | MONDO:equivalentTo | Gastroesophageal Junction Adenocarcinoma by AJCC v8 Stage | | MONDO:0003219 | -| MONDO:0853993 | gastric cancer by ajcc v8 stage | NCIT:C133638 | MONDO:equivalentTo | Gastric Cancer by AJCC v8 Stage | | MONDO:0004950 | -| MONDO:0853994 | small intestinal cancer by ajcc v7 stage | NCIT:C133716 | MONDO:equivalentTo | Small Intestinal Cancer by AJCC v7 Stage | | MONDO:0005522 | -| MONDO:0853996 | appendix carcinoma by ajcc v7 stage | NCIT:C133733 | MONDO:equivalentTo | Appendix Carcinoma by AJCC v7 Stage | | MONDO:0003196 | -| MONDO:0853997 | anal canal cancer by ajcc v6 and v7 stage | NCIT:C133787 | MONDO:equivalentTo | Anal Canal Cancer by AJCC v6 and v7 Stage | | MONDO:0007108 | -| MONDO:0853998 | anal cancer by ajcc v8 stage | NCIT:C133794 | MONDO:equivalentTo | Anal Cancer by AJCC v8 Stage | | MONDO:0003199 | -| MONDO:0854000 | small intestinal adenocarcinoma by ajcc v8 stage | NCIT:C133893 | MONDO:equivalentTo | Small Intestinal Adenocarcinoma by AJCC v8 Stage | | MONDO:0003198 | -| MONDO:0854002 | appendix carcinoma by ajcc v8 stage | NCIT:C134117 | MONDO:equivalentTo | Appendix Carcinoma by AJCC v8 Stage | | MONDO:0003196 | -| MONDO:0854009 | colorectal cancer by ajcc v8 stage | NCIT:C134180 | MONDO:equivalentTo | Colorectal Cancer by AJCC v8 Stage | | MONDO:0024331 | -| MONDO:0854013 | intrahepatic cholangiocarcinoma by ajcc v7 stage | NCIT:C134514 | MONDO:equivalentTo | Intrahepatic Cholangiocarcinoma by AJCC v7 Stage | | MONDO:0003210 | -| MONDO:0854014 | hepatocellular carcinoma by ajcc v8 stage | NCIT:C134515 | MONDO:equivalentTo | Hepatocellular Carcinoma by AJCC v8 Stage | | MONDO:0007256 | -| MONDO:0854017 | intrahepatic bile duct cancer by ajcc v8 stage | NCIT:C134604 | MONDO:equivalentTo | Intrahepatic Bile Duct Cancer by AJCC v8 Stage | | MONDO:0018531 | -| MONDO:0854018 | gallbladder cancer by ajcc v8 stage | NCIT:C134660 | MONDO:equivalentTo | Gallbladder Cancer by AJCC v8 Stage | | MONDO:0003220 | -| MONDO:0854019 | hilar cholangiocarcinoma by ajcc v7 stage | NCIT:C134742 | MONDO:equivalentTo | Hilar Cholangiocarcinoma by AJCC v7 Stage | | MONDO:0003345 | -| MONDO:0854020 | hilar cholangiocarcinoma by ajcc v8 stage | NCIT:C134743 | MONDO:equivalentTo | Hilar Cholangiocarcinoma by AJCC v8 Stage | | MONDO:0003345 | -| MONDO:0854022 | distal bile duct cancer by ajcc v7 stage | NCIT:C134810 | MONDO:equivalentTo | Distal Bile Duct Cancer by AJCC v7 Stage | | MONDO:0003707 | -| MONDO:0854023 | distal bile duct cancer by ajcc v8 stage | NCIT:C134811 | MONDO:equivalentTo | Distal Bile Duct Cancer by AJCC v8 Stage | | MONDO:0003707 | -| MONDO:0854024 | ampulla of vater cancer by ajcc v7 stage | NCIT:C134863 | MONDO:equivalentTo | Ampulla of Vater Cancer by AJCC v7 Stage | | MONDO:0017590 | -| MONDO:0854025 | ampulla of vater cancer by ajcc v8 stage | NCIT:C134864 | MONDO:equivalentTo | Ampulla of Vater Cancer by AJCC v8 Stage | | MONDO:0017590 | -| MONDO:0854026 | pancreatic cancer by ajcc v6 and v7 stage | NCIT:C134902 | MONDO:equivalentTo | Pancreatic Cancer by AJCC v6 and v7 Stage | | MONDO:0005192 | -| MONDO:0854027 | pancreatic cancer by ajcc v8 stage | NCIT:C134909 | MONDO:equivalentTo | Pancreatic Cancer by AJCC v8 Stage | | MONDO:0005192 | -| MONDO:0854029 | lung non-squamous non-small cell carcinoma | NCIT:C135017 | MONDO:equivalentTo | Lung Non-Squamous Non-Small Cell Carcinoma | | MONDO:0005233 | -| MONDO:0854030 | gastric neuroendocrine tumor by ajcc v8 stage | NCIT:C135045 | MONDO:equivalentTo | Gastric Neuroendocrine Tumor by AJCC v8 Stage | | MONDO:0015062 | -| MONDO:0854031 | duodenal neuroendocrine tumor by ajcc v8 stage | NCIT:C135075 | MONDO:equivalentTo | Duodenal Neuroendocrine Tumor by AJCC v8 Stage | | MONDO:0015063 | -| MONDO:0854032 | jejunal neuroendocrine tumor by ajcc v8 stage | NCIT:C135119 | MONDO:equivalentTo | Jejunal Neuroendocrine Tumor by AJCC v8 Stage | | MONDO:0015064 | -| MONDO:0854033 | ileal neuroendocrine tumor by ajcc v8 stage | NCIT:C135124 | MONDO:equivalentTo | Ileal Neuroendocrine Tumor by AJCC v8 Stage | | MONDO:0015065 | -| MONDO:0854034 | digestive system neuroendocrine tumor by ajcc v7 stage | NCIT:C135129 | MONDO:equivalentTo | Digestive System Neuroendocrine Tumor by AJCC v7 Stage | | MONDO:0000386 | -| MONDO:0854036 | appendix neuroendocrine tumor by ajcc v8 stage | NCIT:C135156 | MONDO:equivalentTo | Appendix Neuroendocrine Tumor by AJCC v8 Stage | | MONDO:0015066 | -| MONDO:0854042 | pancreatic neuroendocrine tumor by ajcc v8 stage | NCIT:C135560 | MONDO:equivalentTo | Pancreatic Neuroendocrine Tumor by AJCC v8 Stage | | MONDO:0019954 | -| MONDO:0854043 | thymic epithelial neoplasm by ajcc v8 stage | NCIT:C136320 | MONDO:equivalentTo | Thymic Epithelial Neoplasm by AJCC v8 Stage | | MONDO:0018079 | -| MONDO:0854045 | pleural malignant mesothelioma by ajcc v7 stage | NCIT:C136374 | MONDO:equivalentTo | Pleural Malignant Mesothelioma by AJCC v7 Stage | | MONDO:0005112 | -| MONDO:0854046 | pleural malignant mesothelioma by ajcc v8 stage | NCIT:C136399 | MONDO:equivalentTo | Pleural Malignant Mesothelioma by AJCC v8 Stage | | MONDO:0005112 | -| MONDO:0854048 | lung cancer by ajcc v8 stage | NCIT:C136467 | MONDO:equivalentTo | Lung Cancer by AJCC v8 Stage | | MONDO:0005138 | -| MONDO:0854057 | bone cancer by ajcc v7 stage | NCIT:C136610 | MONDO:equivalentTo | Bone Cancer by AJCC v7 Stage | | MONDO:0002129 | -| MONDO:0854058 | bone cancer by ajcc v8 stage | NCIT:C136612 | MONDO:equivalentTo | Bone Cancer by AJCC v8 Stage | | MONDO:0002129 | -| MONDO:0854060 | soft tissue sarcoma by ajcc v8 stage | NCIT:C136693 | MONDO:equivalentTo | Soft Tissue Sarcoma by AJCC v8 Stage | | MONDO:0018078 | -| MONDO:0854061 | soft tissue sarcoma by ajcc v7 stage | NCIT:C136707 | MONDO:equivalentTo | Soft Tissue Sarcoma by AJCC v7 Stage | | MONDO:0018078 | -| MONDO:0854062 | uterine corpus sarcoma by ajcc v7 stage | NCIT:C136708 | MONDO:equivalentTo | Uterine Corpus Sarcoma by AJCC v7 Stage | | MONDO:0005210 | -| MONDO:0854063 | invasive lung mucinous adenocarcinoma | NCIT:C136709 | MONDO:equivalentTo | Invasive Lung Mucinous Adenocarcinoma | | MONDO:0040677|MONDO:0005061|MONDO:0004957 | -| MONDO:0854064 | lung enteric adenocarcinoma | NCIT:C136710 | MONDO:equivalentTo | Lung Enteric Adenocarcinoma | | MONDO:0006254|MONDO:0005061 | -| MONDO:0854065 | lung keratinizing squamous cell carcinoma | NCIT:C136713 | MONDO:equivalentTo | Lung Keratinizing Squamous Cell Carcinoma | | MONDO:0005097 | -| MONDO:0854066 | lung non-keratinizing squamous cell carcinoma | NCIT:C136714 | MONDO:equivalentTo | Lung Non-Keratinizing Squamous Cell Carcinoma | | MONDO:0005097 | -| MONDO:0854067 | lung non-mucinous adenocarcinoma in situ | NCIT:C136716 | MONDO:equivalentTo | Lung Non-Mucinous Adenocarcinoma In Situ | | MONDO:0000503 | -| MONDO:0854068 | lung mucinous adenocarcinoma in situ | NCIT:C136717 | MONDO:equivalentTo | Lung Mucinous Adenocarcinoma In Situ | | MONDO:0000503 | -| MONDO:0854069 | lung squamous cell carcinoma in situ | NCIT:C136719 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma In Situ | | MONDO:0005097|MONDO:0004693 | -| MONDO:0854075 | cutaneous melanoma by ajcc v8 stage | NCIT:C137645 | MONDO:equivalentTo | Cutaneous Melanoma by AJCC v8 Stage | | MONDO:0005012 | -| MONDO:0854076 | occult breast carcinoma | NCIT:C137674 | MONDO:equivalentTo | Occult Breast Carcinoma | | MONDO:0004989 | -| MONDO:0854077 | breast pleomorphic lobular carcinoma in situ | NCIT:C137839 | MONDO:equivalentTo | Breast Pleomorphic Lobular Carcinoma In Situ | | MONDO:0006270 | -| MONDO:0854089 | prostate carcinoma by gene expression profile | NCIT:C138167 | MONDO:equivalentTo | Prostate Carcinoma by Gene Expression Profile | | MONDO:0005159 | -| MONDO:0854090 | duodenal-type follicular lymphoma | NCIT:C138185 | MONDO:equivalentTo | Duodenal-Type Follicular Lymphoma | | MONDO:0018906 | -| MONDO:0854092 | high grade b-cell lymphoma with myc and bcl2 and/or bcl6 rearrangements | NCIT:C138195 | MONDO:equivalentTo | High Grade B-Cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements | | MONDO:0044889 | -| MONDO:0854094 | double-expressor lymphoma | NCIT:C138899 | MONDO:equivalentTo | Double-Expressor Lymphoma | | MONDO:0018905 | -| MONDO:0854097 | follicular helper t-cell lymphoma | NCIT:C139005 | MONDO:equivalentTo | Follicular Helper T-Cell Lymphoma | | MONDO:0000430 | -| MONDO:0854098 | multiple myeloma myeloma by ds stage | NCIT:C139008 | MONDO:equivalentTo | Multiple Myeloma Myeloma by DS Stage | | MONDO:0009693 | -| MONDO:0854099 | multiple myeloma by iss stage | NCIT:C139009 | MONDO:equivalentTo | Multiple Myeloma by ISS Stage | | MONDO:0009693 | -| MONDO:0854100 | type d lymphomatoid papulosis | NCIT:C139014 | MONDO:equivalentTo | Type D Lymphomatoid Papulosis | | MONDO:0020326 | -| MONDO:0854101 | type e lymphomatoid papulosis | NCIT:C139015 | MONDO:equivalentTo | Type E Lymphomatoid Papulosis | | MONDO:0020326 | -| MONDO:0854102 | lymphomatoid papulosis with dusp22-irf4 gene rearrangement | NCIT:C139017 | MONDO:equivalentTo | Lymphomatoid Papulosis with DUSP22-IRF4 Gene Rearrangement | | MONDO:0020326 | -| MONDO:0854105 | breast cancer by ajcc v8 stage | NCIT:C139532 | MONDO:equivalentTo | Breast Cancer by AJCC v8 Stage | | MONDO:0004989 | -| MONDO:0854108 | fibroadenoma of anogenital mammary-type glands | NCIT:C139547 | MONDO:equivalentTo | Fibroadenoma of Anogenital Mammary-Type Glands | | MONDO:0000383|MONDO:0021045 | -| MONDO:0854109 | vulvar composite hidradenoma papilliferum and fibroadenoma | NCIT:C139548 | MONDO:equivalentTo | Vulvar Composite Hidradenoma Papilliferum and Fibroadenoma | | MONDO:0021043|MONDO:0000643 | -| MONDO:0854111 | vulvar cancer by ajcc v8 stage | NCIT:C139618 | MONDO:equivalentTo | Vulvar Cancer by AJCC v8 Stage | | MONDO:0005215 | -| MONDO:0854112 | vaginal cancer by ajcc v8 stage | NCIT:C139657 | MONDO:equivalentTo | Vaginal Cancer by AJCC v8 Stage | | MONDO:0015867 | -| MONDO:0854113 | cervical cancer by ajcc v8 stage | NCIT:C139733 | MONDO:equivalentTo | Cervical Cancer by AJCC v8 Stage | | MONDO:0005131 | -| MONDO:0854114 | uterine corpus cancer by ajcc v8 stage | NCIT:C139801 | MONDO:equivalentTo | Uterine Corpus Cancer by AJCC v8 Stage | | MONDO:0006003 | -| MONDO:0854115 | uterine corpus sarcoma by ajcc v8 stage | NCIT:C139869 | MONDO:equivalentTo | Uterine Corpus Sarcoma by AJCC v8 Stage | | MONDO:0005210 | -| MONDO:0854119 | ovarian cancer by ajcc v8 stage | NCIT:C139963 | MONDO:equivalentTo | Ovarian Cancer by AJCC v8 Stage | | MONDO:0005140 | -| MONDO:0854120 | fallopian tube cancer by ajcc v8 stage | NCIT:C139983 | MONDO:equivalentTo | Fallopian Tube Cancer by AJCC v8 Stage | | MONDO:0006206 | -| MONDO:0854121 | primary peritoneal cancer by ajcc v7 stage | NCIT:C140003 | MONDO:equivalentTo | Primary Peritoneal Cancer by AJCC v7 Stage | | MONDO:0015686 | -| MONDO:0854122 | primary peritoneal cancer by ajcc v8 stage | NCIT:C140004 | MONDO:equivalentTo | Primary Peritoneal Cancer by AJCC v8 Stage | | MONDO:0015686 | -| MONDO:0854123 | gestational trophoblastic tumor by ajcc v7 stage | NCIT:C140032 | MONDO:equivalentTo | Gestational Trophoblastic Tumor by AJCC v7 Stage | | MONDO:0018944 | -| MONDO:0854124 | penile cancer by ajcc v8 stage | NCIT:C140075 | MONDO:equivalentTo | Penile Cancer by AJCC v8 Stage | | MONDO:0006360 | -| MONDO:0854125 | prostate cancer by ajcc v8 stage | NCIT:C140163 | MONDO:equivalentTo | Prostate Cancer by AJCC v8 Stage | | MONDO:0005159 | -| MONDO:0854126 | testicular cancer by ajcc v8 stage | NCIT:C140225 | MONDO:equivalentTo | Testicular Cancer by AJCC v8 Stage | | MONDO:0005447 | -| MONDO:0854127 | testicular cancer by ajcc v6 and v7 stage | NCIT:C140241 | MONDO:equivalentTo | Testicular Cancer by AJCC v6 and v7 Stage | | MONDO:0005447 | -| MONDO:0854128 | renal cell cancer by ajcc v8 stage | NCIT:C140322 | MONDO:equivalentTo | Renal Cell Cancer by AJCC v8 Stage | | MONDO:0005549 | -| MONDO:0854130 | renal pelvis and ureter cancer by ajcc v8 stage | NCIT:C140355 | MONDO:equivalentTo | Renal Pelvis and Ureter Cancer by AJCC v8 Stage | | MONDO:0020654 | -| MONDO:0854134 | renal pelvis and ureter cancer by ajcc v7 stage | NCIT:C140376 | MONDO:equivalentTo | Renal Pelvis and Ureter Cancer by AJCC v7 Stage | | MONDO:0020654 | -| MONDO:0854137 | bladder cancer by ajcc v8 stage | NCIT:C140416 | MONDO:equivalentTo | Bladder Cancer by AJCC v8 Stage | | MONDO:0004986 | -| MONDO:0854139 | urethral cancer by ajcc v8 stage | NCIT:C140457 | MONDO:equivalentTo | Urethral Cancer by AJCC v8 Stage | | MONDO:0021327 | -| MONDO:0854141 | urethral cancer by ajcc v7 stage | NCIT:C140464 | MONDO:equivalentTo | Urethral Cancer by AJCC v7 Stage | | MONDO:0021327 | -| MONDO:0854142 | eyelid carcinoma by ajcc v7 stage | NCIT:C140511 | MONDO:equivalentTo | Eyelid Carcinoma by AJCC v7 Stage | | MONDO:0003876 | -| MONDO:0854143 | eyelid carcinoma by ajcc v8 stage | NCIT:C140513 | MONDO:equivalentTo | Eyelid Carcinoma by AJCC v8 Stage | | MONDO:0003876 | -| MONDO:0854144 | choroidal and ciliary body melanoma by ajcc v8 stage | NCIT:C140659 | MONDO:equivalentTo | Choroidal and Ciliary Body Melanoma by AJCC v8 Stage | | MONDO:0006486 | -| MONDO:0854145 | uveal melanoma by ajcc v7 stage | NCIT:C140672 | MONDO:equivalentTo | Uveal Melanoma by AJCC v7 Stage | | MONDO:0006486 | -| MONDO:0854146 | retinoblastoma by ajcc v8 stage | NCIT:C140750 | MONDO:equivalentTo | Retinoblastoma by AJCC v8 Stage | | MONDO:0008380 | -| MONDO:0854148 | differentiated thyroid gland carcinoma by ajcc v7 stage | NCIT:C140959 | MONDO:equivalentTo | Differentiated Thyroid Gland Carcinoma by AJCC v7 Stage | | MONDO:0015447 | -| MONDO:0854150 | differentiated thyroid gland carcinoma by ajcc v8 stage | NCIT:C140965 | MONDO:equivalentTo | Differentiated Thyroid Gland Carcinoma by AJCC v8 Stage | | MONDO:0015447 | -| MONDO:0854153 | thyroid gland anaplastic carcinoma by ajcc v7 stage | NCIT:C140999 | MONDO:equivalentTo | Thyroid Gland Anaplastic Carcinoma by AJCC v7 Stage | | MONDO:0006468 | -| MONDO:0854154 | thyroid gland anaplastic carcinoma by ajcc v8 stage | NCIT:C141000 | MONDO:equivalentTo | Thyroid Gland Anaplastic Carcinoma by AJCC v8 Stage | | MONDO:0006468 | -| MONDO:0854155 | thyroid gland medullary carcinoma by ajcc v7 stage | NCIT:C141041 | MONDO:equivalentTo | Thyroid Gland Medullary Carcinoma by AJCC v7 Stage | | MONDO:0015277 | -| MONDO:0854156 | thyroid gland medullary carcinoma by ajcc v8 stage | NCIT:C141042 | MONDO:equivalentTo | Thyroid Gland Medullary Carcinoma by AJCC v8 Stage | | MONDO:0015277 | -| MONDO:0854157 | adrenal cortical carcinoma by ajcc v7 stage | NCIT:C141098 | MONDO:equivalentTo | Adrenal Cortical Carcinoma by AJCC v7 Stage | | MONDO:0006639 | -| MONDO:0854158 | adrenal cortical carcinoma by ajcc v8 stage | NCIT:C141100 | MONDO:equivalentTo | Adrenal Cortical Carcinoma by AJCC v8 Stage | | MONDO:0006639 | -| MONDO:0854159 | adrenal gland pheochromocytoma and sympathetic paraganglioma by ajcc v8 stage | NCIT:C141128 | MONDO:equivalentTo | Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma by AJCC v8 Stage | | MONDO:0021072 | -| MONDO:0854166 | chronic lymphocytic leukemia- modified rai staging system | NCIT:C141206 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia- Modified Rai Staging System | | MONDO:0004948 | -| MONDO:0854167 | chronic lymphocytic leukemia- binet staging system | NCIT:C141208 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia- Binet Staging System | | MONDO:0004948 | -| MONDO:0854189 | multiple myeloma by riss stage | NCIT:C141393 | MONDO:equivalentTo | Multiple Myeloma by RISS Stage | | MONDO:0009693 | -| MONDO:0854192 | thoracic nut carcinoma | NCIT:C142781 | MONDO:equivalentTo | Thoracic NUT Carcinoma | | MONDO:0005563|MONDO:0003274 | -| MONDO:0854193 | benign lung pecoma | NCIT:C142784 | MONDO:equivalentTo | Benign Lung PEComa | | MONDO:0002732|MONDO:0020588|MONDO:0020581 | -| MONDO:0854200 | pulmonary artery intimal sarcoma | NCIT:C142825 | MONDO:equivalentTo | Pulmonary Artery Intimal Sarcoma | | MONDO:0006255|MONDO:0002426 | -| MONDO:0854201 | primary pulmonary myxoid sarcoma with ewsr1-creb1 fusion | NCIT:C142827 | MONDO:equivalentTo | Primary Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Fusion | | MONDO:0002426 | -| MONDO:0854212 | refractory rhabdoid tumor | NCIT:C142858 | MONDO:equivalentTo | Refractory Rhabdoid Tumor | | MONDO:0002728|MONDO:0036501 | -| MONDO:0854225 | atypical type a thymoma | NCIT:C146640 | MONDO:equivalentTo | Atypical Type A Thymoma | | MONDO:0002588 | -| MONDO:0854227 | thymic hepatoid adenocarcinoma | NCIT:C146717 | MONDO:equivalentTo | Thymic Hepatoid Adenocarcinoma | | MONDO:0006243|MONDO:0003209 | -| MONDO:0854229 | malignant mediastinal germ cell tumor stage grouping of the pediatric study group | NCIT:C146848 | MONDO:equivalentTo | Malignant Mediastinal Germ Cell Tumor Stage Grouping of the Pediatric Study Group | | MONDO:0006298 | -| MONDO:0854230 | metastatic epithelioid hemangioendothelioma | NCIT:C146858 | MONDO:equivalentTo | Metastatic Epithelioid Hemangioendothelioma | | MONDO:0015523|MONDO:0024880 | -| MONDO:0854231 | mediastinal mixed germ cell tumor | NCIT:C146861 | MONDO:equivalentTo | Mediastinal Mixed Germ Cell Tumor | | MONDO:0006298|MONDO:0015864|MONDO:0005853 | -| MONDO:0854234 | mediastinal epithelioid hemangioendothelioma | NCIT:C146988 | MONDO:equivalentTo | Mediastinal Epithelioid Hemangioendothelioma | | MONDO:0037743|MONDO:0015523 | -| MONDO:0854235 | cardiac extraskeletal osteosarcoma | NCIT:C147003 | MONDO:equivalentTo | Cardiac Extraskeletal Osteosarcoma | | MONDO:0002621|MONDO:0003354 | -| MONDO:0854236 | cardiac myxofibrosarcoma | NCIT:C147004 | MONDO:equivalentTo | Cardiac Myxofibrosarcoma | | MONDO:0019202|MONDO:0003742 | -| MONDO:0854237 | cardiac yolk sac tumor | NCIT:C147006 | MONDO:equivalentTo | Cardiac Yolk Sac Tumor | | MONDO:0001991|MONDO:0005744 | -| MONDO:0854242 | pericardial sarcoma | NCIT:C147098 | MONDO:equivalentTo | Pericardial Sarcoma | | MONDO:0018078|MONDO:0001322 | -| MONDO:0854249 | recurrent lymphoproliferative disorder | NCIT:C147861 | MONDO:equivalentTo | Recurrent Lymphoproliferative Disorder | | | -| MONDO:0854250 | oropharyngeal p16ink4a-negative squamous cell carcinoma | NCIT:C147906 | MONDO:equivalentTo | Oropharyngeal p16INK4a-Negative Squamous Cell Carcinoma | | MONDO:0044704 | -| MONDO:0854251 | central nervous system b-cell non-hodgkin lymphoma | NCIT:C147948 | MONDO:equivalentTo | Central Nervous System B-Cell Non-Hodgkin Lymphoma | | MONDO:0015759|MONDO:0044887 | -| MONDO:0854253 | refractory melanoma | NCIT:C147983 | MONDO:equivalentTo | Refractory Melanoma | | MONDO:0036501|MONDO:0005105 | -| MONDO:0854268 | refractory round cell liposarcoma | NCIT:C148299 | MONDO:equivalentTo | Refractory Round Cell Liposarcoma | | MONDO:0005238 | -| MONDO:0854269 | metastatic round cell liposarcoma | NCIT:C148300 | MONDO:equivalentTo | Metastatic Round Cell Liposarcoma | | MONDO:0005238 | -| MONDO:0854270 | refractory sarcoma | NCIT:C148301 | MONDO:equivalentTo | Refractory Sarcoma | | MONDO:0005089|MONDO:0036501 | -| MONDO:0854284 | refractory leukemia | NCIT:C148426 | MONDO:equivalentTo | Refractory Leukemia | | MONDO:0005059|MONDO:0004111 | -| MONDO:0854293 | castration-naive prostate carcinoma | NCIT:C148536 | MONDO:equivalentTo | Castration-Naive Prostate Carcinoma | | MONDO:0004956 | -| MONDO:0854294 | thoracic esophagus adenocarcinoma | NCIT:C150027 | MONDO:equivalentTo | Thoracic Esophagus Adenocarcinoma | | MONDO:0005028|MONDO:0021325 | -| MONDO:0854295 | thoracic esophagus squamous cell carcinoma | NCIT:C150029 | MONDO:equivalentTo | Thoracic Esophagus Squamous Cell Carcinoma | | MONDO:0005580|MONDO:0021325 | -| MONDO:0854296 | cervical esophagus adenocarcinoma | NCIT:C150031 | MONDO:equivalentTo | Cervical Esophagus Adenocarcinoma | | MONDO:0021326|MONDO:0005028 | -| MONDO:0854297 | cervical esophagus squamous cell carcinoma | NCIT:C150032 | MONDO:equivalentTo | Cervical Esophagus Squamous Cell Carcinoma | | MONDO:0021326|MONDO:0005580 | -| MONDO:0854298 | gastric cardia squamous cell carcinoma | NCIT:C150034 | MONDO:equivalentTo | Gastric Cardia Squamous Cell Carcinoma | | MONDO:0003834|MONDO:0006230 | -| MONDO:0854317 | high risk neuroblastoma | NCIT:C150281 | MONDO:equivalentTo | High Risk Neuroblastoma | | MONDO:0005072 | -| MONDO:0854322 | hhv8-related lymphoproliferative disorder | NCIT:C150399 | MONDO:equivalentTo | HHV8-Related Lymphoproliferative Disorder | | | -| MONDO:0854323 | hhv8-positive multicentric castleman disease | NCIT:C150404 | MONDO:equivalentTo | HHV8-Positive Multicentric Castleman Disease | | | -| MONDO:0854324 | extracavitary primary effusion lymphoma | NCIT:C150406 | MONDO:equivalentTo | Extracavitary Primary Effusion Lymphoma | | MONDO:0018842 | -| MONDO:0854325 | body cavity primary effusion lymphoma | NCIT:C150407 | MONDO:equivalentTo | Body Cavity Primary Effusion Lymphoma | | MONDO:0018842 | -| MONDO:0854332 | refractory malignant bone neoplasm | NCIT:C150525 | MONDO:equivalentTo | Refractory Malignant Bone Neoplasm | | MONDO:0002129|MONDO:0036501 | -| MONDO:0854334 | refractory malignant female reproductive system neoplasm | NCIT:C150527 | MONDO:equivalentTo | Refractory Malignant Female Reproductive System Neoplasm | | MONDO:0001416|MONDO:0036501 | -| MONDO:0854335 | refractory malignant neoplasm of multiple primary sites | NCIT:C150529 | MONDO:equivalentTo | Refractory Malignant Neoplasm of Multiple Primary Sites | | MONDO:0036501 | -| MONDO:0854339 | refractory malignant male reproductive system neoplasm | NCIT:C150534 | MONDO:equivalentTo | Refractory Malignant Male Reproductive System Neoplasm | | MONDO:0005836|MONDO:0036501 | -| MONDO:0854340 | refractory malignant mesothelioma | NCIT:C150535 | MONDO:equivalentTo | Refractory Malignant Mesothelioma | | MONDO:0006292|MONDO:0036501 | -| MONDO:0854342 | refractory malignant soft tissue neoplasm | NCIT:C150537 | MONDO:equivalentTo | Refractory Malignant Soft Tissue Neoplasm | | MONDO:0024637|MONDO:0036501 | -| MONDO:0854345 | refractory malignant endocrine neoplasm | NCIT:C150541 | MONDO:equivalentTo | Refractory Malignant Endocrine Neoplasm | | MONDO:0021069|MONDO:0036501 | -| MONDO:0854347 | refractory malignant urinary system neoplasm | NCIT:C150543 | MONDO:equivalentTo | Refractory Malignant Urinary System Neoplasm | | MONDO:0006295|MONDO:0036501 | -| MONDO:0854349 | refractory malignant skin neoplasm | NCIT:C150546 | MONDO:equivalentTo | Refractory Malignant Skin Neoplasm | | MONDO:0002898|MONDO:0036501 | -| MONDO:0854350 | prostate adenocarcinoma without neuroendocrine differentiation | NCIT:C150557 | MONDO:equivalentTo | Prostate Adenocarcinoma without Neuroendocrine Differentiation | | MONDO:0005082 | -| MONDO:0854351 | igm monoclonal gammopathy of undetermined significance | NCIT:C150566 | MONDO:equivalentTo | IgM Monoclonal Gammopathy of Undetermined Significance | | MONDO:0004225 | -| MONDO:0854352 | invasive bladder carcinoma | NCIT:C150570 | MONDO:equivalentTo | Invasive Bladder Carcinoma | | MONDO:0040677|MONDO:0004986 | -| MONDO:0854353 | localized cerebral neoplasm | NCIT:C150573 | MONDO:equivalentTo | Localized Cerebral Neoplasm | | MONDO:0021632|MONDO:0021374 | -| MONDO:0854358 | non-igm monoclonal gammopathy of undetermined significance | NCIT:C150588 | MONDO:equivalentTo | Non-IgM Monoclonal Gammopathy of Undetermined Significance | | MONDO:0004225 | -| MONDO:0854359 | testicular follicular lymphoma | NCIT:C150589 | MONDO:equivalentTo | Testicular Follicular Lymphoma | | MONDO:0001472|MONDO:0018906 | -| MONDO:0854363 | metastatic malignant neoplasm in the viscera | NCIT:C150597 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Viscera | | MONDO:0024880 | -| MONDO:0854365 | resectable malignant neoplasm | NCIT:C150602 | MONDO:equivalentTo | Resectable Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0854374 | immunodeficiency-related lymphoproliferative disorder | NCIT:C150672 | MONDO:equivalentTo | Immunodeficiency-Related Lymphoproliferative Disorder | | | -| MONDO:0854376 | tumors derived from langerhans cells | NCIT:C150692 | MONDO:equivalentTo | Tumors Derived from Langerhans Cells | | MONDO:0006247 | -| MONDO:0854377 | langerhans cell histiocytosis, monostotic | NCIT:C150701 | MONDO:equivalentTo | Langerhans Cell Histiocytosis, Monostotic | | MONDO:0018310 | -| MONDO:0854378 | langerhans cell histiocytosis, polyostotic | NCIT:C150702 | MONDO:equivalentTo | Langerhans Cell Histiocytosis, Polyostotic | | MONDO:0018310 | -| MONDO:0854379 | langerhans cell histiocytosis, disseminated | NCIT:C150703 | MONDO:equivalentTo | Langerhans Cell Histiocytosis, Disseminated | | MONDO:0018310 | -| MONDO:0854381 | transformed non-hodgkin lymphoma | NCIT:C151957 | MONDO:equivalentTo | Transformed Non-Hodgkin Lymphoma | | MONDO:0018908 | -| MONDO:0854382 | acute leukemia of ambiguous lineage, not otherwise specified | NCIT:C151975 | MONDO:equivalentTo | Acute Leukemia of Ambiguous Lineage, Not Otherwise Specified | | MONDO:0019460 | -| MONDO:0854385 | abdominal rhabdomyosarcoma | NCIT:C151982 | MONDO:equivalentTo | Abdominal Rhabdomyosarcoma | | MONDO:0005212 | -| MONDO:0854388 | abdominal undifferentiated pleomorphic sarcoma | NCIT:C151985 | MONDO:equivalentTo | Abdominal Undifferentiated Pleomorphic Sarcoma | | MONDO:0002142 | -| MONDO:0854389 | mixed phenotype acute leukemia, rare types | NCIT:C151990 | MONDO:equivalentTo | Mixed Phenotype Acute Leukemia, Rare Types | | MONDO:0020743 | -| MONDO:0854394 | metastatic sarcoma | NCIT:C152076 | MONDO:equivalentTo | Metastatic Sarcoma | | MONDO:0005089|MONDO:0024880 | -| MONDO:0854395 | refractory malignant head and neck neoplasm | NCIT:C152078 | MONDO:equivalentTo | Refractory Malignant Head and Neck Neoplasm | | MONDO:0005627|MONDO:0036501 | -| MONDO:0854414 | refractory ewing sarcoma/peripheral primitive neuroectodermal tumor | NCIT:C153286 | MONDO:equivalentTo | Refractory Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | | MONDO:0021038|MONDO:0036501 | -| MONDO:0854420 | metastatic chordoma | NCIT:C153323 | MONDO:equivalentTo | Metastatic Chordoma | | MONDO:0024880|MONDO:0008978 | -| MONDO:0854422 | castration-sensitive prostate carcinoma | NCIT:C153336 | MONDO:equivalentTo | Castration-Sensitive Prostate Carcinoma | | MONDO:0004956 | -| MONDO:0854468 | sinonasal poorly differentiated carcinoma | NCIT:C154324 | MONDO:equivalentTo | Sinonasal Poorly Differentiated Carcinoma | | MONDO:0056819 | -| MONDO:0854469 | densely granulated corticotroph pituitary neuroendocrine tumor | NCIT:C154339 | MONDO:equivalentTo | Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor | | MONDO:0006068 | -| MONDO:0854470 | sparsely granulated corticotroph pituitary neuroendocrine tumor | NCIT:C154340 | MONDO:equivalentTo | Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor | | MONDO:0006068 | -| MONDO:0854471 | crooke cell tumor | NCIT:C154342 | MONDO:equivalentTo | Crooke Cell Tumor | | MONDO:0006068 | -| MONDO:0854472 | non-functioning corticotroph pituitary neuroendocrine tumor | NCIT:C154429 | MONDO:equivalentTo | Non-Functioning Corticotroph Pituitary Neuroendocrine Tumor | | MONDO:0006068|MONDO:0019613 | -| MONDO:0854479 | anaplastic sarcoma of the kidney | NCIT:C154496 | MONDO:equivalentTo | Anaplastic Sarcoma of the Kidney | | MONDO:0002930|MONDO:0020633 | -| MONDO:0854480 | multiple synchronous pituitary neuroendocrine tumors of distinct lineages | NCIT:C154520 | MONDO:equivalentTo | Multiple Synchronous Pituitary Neuroendocrine Tumors of Distinct Lineages | | MONDO:0006373 | -| MONDO:0854485 | cutaneous melanoma of the extremity | NCIT:C155305 | MONDO:equivalentTo | Cutaneous Melanoma of the Extremity | | MONDO:0005012 | -| MONDO:0854489 | sarcoma of the extremity | NCIT:C155647 | MONDO:equivalentTo | Sarcoma of the Extremity | | MONDO:0005089 | -| MONDO:0854492 | mixed gangliocytoma-pituitary neuroendocrine tumor | NCIT:C155767 | MONDO:equivalentTo | Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor | | MONDO:0021043|MONDO:0006373 | -| MONDO:0854495 | ependymal pituicytoma | NCIT:C155774 | MONDO:equivalentTo | Ependymal Pituicytoma | | MONDO:0003257 | -| MONDO:0854496 | sellar meningioma | NCIT:C155776 | MONDO:equivalentTo | Sellar Meningioma | | MONDO:0002998|MONDO:0002720 | -| MONDO:0854500 | sellar solitary fibrous tumor | NCIT:C155784 | MONDO:equivalentTo | Sellar Solitary Fibrous Tumor | | MONDO:0002720|MONDO:0003223 | -| MONDO:0854518 | metastatic malignant pancreatic neoplasm | NCIT:C155852 | MONDO:equivalentTo | Metastatic Malignant Pancreatic Neoplasm | | MONDO:0009831|MONDO:0024880 | -| MONDO:0854521 | chest wall sarcoma | NCIT:C155873 | MONDO:equivalentTo | Chest Wall Sarcoma | | MONDO:0005089|MONDO:0021323 | -| MONDO:0854523 | unresectable desmoid fibromatosis | NCIT:C155877 | MONDO:equivalentTo | Unresectable Desmoid Fibromatosis | | MONDO:0007608 | -| MONDO:0854527 | smoldering waldenstrom macroglobulinemia | NCIT:C155910 | MONDO:equivalentTo | Smoldering Waldenstrom Macroglobulinemia | | MONDO:0100280 | -| MONDO:0854528 | metastatic malignant neoplasm in the thoracic cavity | NCIT:C155919 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Thoracic Cavity | | MONDO:0024880|MONDO:0003274 | -| MONDO:0854529 | medullary hemangioblastoma | NCIT:C155949 | MONDO:equivalentTo | Medullary Hemangioblastoma | | MONDO:0003902 | -| MONDO:0854530 | chromophobe renal cell carcinoma associated with birt-hogg-dube syndrome | NCIT:C155951 | MONDO:equivalentTo | Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome | | MONDO:0017885 | -| MONDO:0854531 | uterine ligament papillary cystadenoma | NCIT:C155952 | MONDO:equivalentTo | Uterine Ligament Papillary Cystadenoma | | MONDO:0021091|MONDO:0020582 | -| MONDO:0854533 | thyroid gland spindle cell follicular adenoma | NCIT:C155957 | MONDO:equivalentTo | Thyroid Gland Spindle Cell Follicular Adenoma | | MONDO:0005032 | -| MONDO:0854534 | thyroid gland black follicular adenoma | NCIT:C155958 | MONDO:equivalentTo | Thyroid Gland Black Follicular Adenoma | | MONDO:0005032 | -| MONDO:0854545 | hypothalamic-chiasmatic pilomyxoid astrocytoma | NCIT:C156038 | MONDO:equivalentTo | Hypothalamic-Chiasmatic Pilomyxoid Astrocytoma | | MONDO:0016692 | -| MONDO:0854546 | fourth ventricle medulloblastoma | NCIT:C156039 | MONDO:equivalentTo | Fourth Ventricle Medulloblastoma | | MONDO:0007959 | -| MONDO:0854547 | third ventricle germinoma | NCIT:C156040 | MONDO:equivalentTo | Third Ventricle Germinoma | | MONDO:0002214 | -| MONDO:0854549 | temporal lobe pleomorphic xanthoastrocytoma | NCIT:C156042 | MONDO:equivalentTo | Temporal Lobe Pleomorphic Xanthoastrocytoma | | MONDO:0016690 | -| MONDO:0854550 | spindle cell variant thyroid gland papillary carcinoma | NCIT:C156045 | MONDO:equivalentTo | Spindle Cell Variant Thyroid Gland Papillary Carcinoma | | MONDO:0005075 | -| MONDO:0854551 | hobnail variant thyroid gland papillary carcinoma | NCIT:C156050 | MONDO:equivalentTo | Hobnail Variant Thyroid Gland Papillary Carcinoma | | MONDO:0005075 | -| MONDO:0854584 | metastatic neuroblastoma | NCIT:C156101 | MONDO:equivalentTo | Metastatic Neuroblastoma | | MONDO:0024880|MONDO:0005072 | -| MONDO:0854588 | thyroid gland follicular carcinoma, encapsulated angioinvasive | NCIT:C156122 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Encapsulated Angioinvasive | | MONDO:0005034 | -| MONDO:0854589 | thyroid gland follicular carcinoma, widely invasive | NCIT:C156123 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Widely Invasive | | MONDO:0040677|MONDO:0005034 | -| MONDO:0854594 | thyroid gland mucinous carcinoma | NCIT:C156267 | MONDO:equivalentTo | Thyroid Gland Mucinous Carcinoma | | MONDO:0015075 | -| MONDO:0854595 | intrathyroidal thymoma | NCIT:C156268 | MONDO:equivalentTo | Intrathyroidal Thymoma | | MONDO:0015074|MONDO:0006456 | -| MONDO:0854598 | orbital alveolar soft part sarcoma | NCIT:C156276 | MONDO:equivalentTo | Orbital Alveolar Soft Part Sarcoma | | MONDO:0004943|MONDO:0011655 | -| MONDO:0854599 | bladder alveolar soft part sarcoma | NCIT:C156277 | MONDO:equivalentTo | Bladder Alveolar Soft Part Sarcoma | | MONDO:0001374|MONDO:0011655 | -| MONDO:0854600 | cellular nerve sheath myxoma | NCIT:C156278 | MONDO:equivalentTo | Cellular Nerve Sheath Myxoma | | MONDO:0006317 | -| MONDO:0854601 | colon liposarcoma | NCIT:C156279 | MONDO:equivalentTo | Colon Liposarcoma | | MONDO:0003352|MONDO:0005060 | -| MONDO:0854608 | thyroid gland schwannoma | NCIT:C156340 | MONDO:equivalentTo | Thyroid Gland Schwannoma | | MONDO:0004820|MONDO:0006107 | -| MONDO:0854616 | thyroid gland solitary fibrous tumor | NCIT:C156349 | MONDO:equivalentTo | Thyroid Gland Solitary Fibrous Tumor | | MONDO:0016238|MONDO:0015074 | -| MONDO:0854631 | metastatic neuroendocrine neoplasm | NCIT:C156485 | MONDO:equivalentTo | Metastatic Neuroendocrine Neoplasm | | MONDO:0019496|MONDO:0024880 | -| MONDO:0854639 | malignant abdominal neoplasm | NCIT:C156714 | MONDO:equivalentTo | Malignant Abdominal Neoplasm | | MONDO:0004992 | -| MONDO:0854640 | malignant pelvic neoplasm | NCIT:C156715 | MONDO:equivalentTo | Malignant Pelvic Neoplasm | | MONDO:0004992 | -| MONDO:0854647 | metastatic basal cell carcinoma | NCIT:C156769 | MONDO:equivalentTo | Metastatic Basal Cell Carcinoma | | MONDO:0024879|MONDO:0020804 | -| MONDO:0854656 | adrenal cortical sex cord-stromal tumor | NCIT:C156943 | MONDO:equivalentTo | Adrenal Cortical Sex Cord-Stromal Tumor | | MONDO:0006055|MONDO:0036591 | -| MONDO:0854657 | adrenal gland schwannoma | NCIT:C156944 | MONDO:equivalentTo | Adrenal Gland Schwannoma | | MONDO:0021468|MONDO:0004820 | -| MONDO:0854658 | adrenal gland lymphoma | NCIT:C156945 | MONDO:equivalentTo | Adrenal Gland Lymphoma | | MONDO:0002817|MONDO:0001499 | -| MONDO:0854659 | adrenal gland sarcoma | NCIT:C156956 | MONDO:equivalentTo | Adrenal Gland Sarcoma | | MONDO:0002817|MONDO:0001501 | -| MONDO:0854660 | primary vitreoretinal non-hodgkin lymphoma | NCIT:C157065 | MONDO:equivalentTo | Primary Vitreoretinal Non-Hodgkin Lymphoma | | MONDO:0004351|MONDO:0044887 | -| MONDO:0854663 | unresectable paraganglioma | NCIT:C157126 | MONDO:equivalentTo | Unresectable Paraganglioma | | MONDO:0000448 | -| MONDO:0854669 | breast histiocytoid carcinoma | NCIT:C157235 | MONDO:equivalentTo | Breast Histiocytoid Carcinoma | | MONDO:0005051 | -| MONDO:0854670 | adrenal gland ganglioneuroblastoma, intermixed | NCIT:C157243 | MONDO:equivalentTo | Adrenal Gland Ganglioneuroblastoma, Intermixed | | MONDO:0004477|MONDO:0003326 | -| MONDO:0854671 | adrenal gland ganglioneuroblastoma, nodular | NCIT:C157244 | MONDO:equivalentTo | Adrenal Gland Ganglioneuroblastoma, Nodular | | MONDO:0004477|MONDO:0003325 | -| MONDO:0854672 | composite paraganglioma | NCIT:C157246 | MONDO:equivalentTo | Composite Paraganglioma | | MONDO:0000448 | -| MONDO:0854679 | peripheral hemangioblastoma | NCIT:C157450 | MONDO:equivalentTo | Peripheral Hemangioblastoma | | MONDO:0016748 | -| MONDO:0854680 | metastatic squamous cell carcinoma in the cervical lymph nodes | NCIT:C157452 | MONDO:equivalentTo | Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes | | MONDO:0005438|MONDO:0044907 | -| MONDO:0854688 | bap1-mutant clear cell renal cell carcinoma | NCIT:C157614 | MONDO:equivalentTo | BAP1-Mutant Clear Cell Renal Cell Carcinoma | | MONDO:0005005 | -| MONDO:0854691 | transformed chronic lymphocytic leukemia to diffuse large b-cell lymphoma | NCIT:C157624 | MONDO:equivalentTo | Transformed Chronic Lymphocytic Leukemia to Diffuse Large B-Cell Lymphoma | | MONDO:0004948 | -| MONDO:0854692 | metastatic adenoid cystic carcinoma | NCIT:C157638 | MONDO:equivalentTo | Metastatic Adenoid Cystic Carcinoma | | MONDO:0024879|MONDO:0004971 | -| MONDO:0854698 | refractory lymphoproliferative disorder | NCIT:C157686 | MONDO:equivalentTo | Refractory Lymphoproliferative Disorder | | | -| MONDO:0854705 | kidney synovial sarcoma | NCIT:C157737 | MONDO:equivalentTo | Kidney Synovial Sarcoma | | MONDO:0002930|MONDO:0010434 | -| MONDO:0854706 | kidney neuroendocrine neoplasm | NCIT:C157743 | MONDO:equivalentTo | Kidney Neuroendocrine Neoplasm | | MONDO:0019496|MONDO:0021163 | -| MONDO:0854708 | metanephric tumor | NCIT:C157748 | MONDO:equivalentTo | Metanephric Tumor | | MONDO:0002513|MONDO:0036976 | -| MONDO:0854714 | bladder neuroendocrine neoplasm | NCIT:C157758 | MONDO:equivalentTo | Bladder Neuroendocrine Neoplasm | | MONDO:0019496|MONDO:0004987 | -| MONDO:0854748 | subcutaneous disorder | NCIT:C157995 | MONDO:equivalentTo | Subcutaneous Disorder | | | -| MONDO:0854749 | kidney epithelioid angiomyolipoma | NCIT:C158032 | MONDO:equivalentTo | Kidney Epithelioid Angiomyolipoma | | MONDO:0004555|MONDO:0002606 | -| MONDO:0854750 | kidney mixed epithelial and stromal tumor family | NCIT:C158046 | MONDO:equivalentTo | Kidney Mixed Epithelial and Stromal Tumor Family | | MONDO:0021163 | -| MONDO:0854756 | bladder non-invasive urothelial neoplasm | NCIT:C158374 | MONDO:equivalentTo | Bladder Non-Invasive Urothelial Neoplasm | | MONDO:0003755|MONDO:0004987 | -| MONDO:0854773 | platinum-sensitive lung small cell carcinoma | NCIT:C158495 | MONDO:equivalentTo | Platinum-Sensitive Lung Small Cell Carcinoma | | MONDO:0008433 | -| MONDO:0854780 | borderline ovarian mixed epithelial tumor/atypical proliferative ovarian mixed epithelial tumor | NCIT:C158616 | MONDO:equivalentTo | Borderline Ovarian Mixed Epithelial Tumor/Atypical Proliferative Ovarian Mixed Epithelial Tumor | | MONDO:0021043|MONDO:0016093 | -| MONDO:0854781 | endometrioid tumor, variant with squamous differentiation | NCIT:C158620 | MONDO:equivalentTo | Endometrioid Tumor, Variant with Squamous Differentiation | | MONDO:0002480 | -| MONDO:0854783 | bladder soft tissue neoplasm | NCIT:C158636 | MONDO:equivalentTo | Bladder Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0004987 | -| MONDO:0854795 | early stage pancreatic ductal adenocarcinoma | NCIT:C158961 | MONDO:equivalentTo | Early Stage Pancreatic Ductal Adenocarcinoma | | MONDO:0005184 | -| MONDO:0854803 | kidney rhabdomyosarcoma | NCIT:C159206 | MONDO:equivalentTo | Kidney Rhabdomyosarcoma | | MONDO:0002930|MONDO:0005212 | -| MONDO:0854804 | kidney ewing sarcoma | NCIT:C159208 | MONDO:equivalentTo | Kidney Ewing Sarcoma | | MONDO:0018270|MONDO:0002930 | -| MONDO:0854806 | kidney hemangioma | NCIT:C159211 | MONDO:equivalentTo | Kidney Hemangioma | | MONDO:0002513|MONDO:0006500 | -| MONDO:0854807 | kidney lymphangioma | NCIT:C159214 | MONDO:equivalentTo | Kidney Lymphangioma | | MONDO:0002013|MONDO:0002513 | -| MONDO:0854808 | kidney schwannoma | NCIT:C159221 | MONDO:equivalentTo | Kidney Schwannoma | | MONDO:0002513|MONDO:0004820 | -| MONDO:0854809 | kidney solitary fibrous tumor | NCIT:C159222 | MONDO:equivalentTo | Kidney Solitary Fibrous Tumor | | MONDO:0016238|MONDO:0021163 | -| MONDO:0854812 | kidney germ cell tumor | NCIT:C159227 | MONDO:equivalentTo | Kidney Germ Cell Tumor | | MONDO:0018201|MONDO:0021163 | -| MONDO:0854813 | penile human papillomavirus-independent squamous cell carcinoma | NCIT:C159244 | MONDO:equivalentTo | Penile Human Papillomavirus-Independent Squamous Cell Carcinoma | | MONDO:0018352 | -| MONDO:0854815 | penile carcinoma cuniculatum | NCIT:C159247 | MONDO:equivalentTo | Penile Carcinoma Cuniculatum | | MONDO:0003698 | -| MONDO:0854817 | penile papillary-basaloid carcinoma | NCIT:C159249 | MONDO:equivalentTo | Penile Papillary-Basaloid Carcinoma | | MONDO:0004089 | -| MONDO:0854818 | penile warty-basaloid carcinoma | NCIT:C159250 | MONDO:equivalentTo | Penile Warty-Basaloid Carcinoma | | MONDO:0004430|MONDO:0020656 | -| MONDO:0854819 | penile lymphoepithelioma-like carcinoma | NCIT:C159252 | MONDO:equivalentTo | Penile Lymphoepithelioma-Like Carcinoma | | MONDO:0003572|MONDO:0020656 | -| MONDO:0854820 | borderline ovarian mucinous tumor/atypical proliferative ovarian mucinous tumor with microinvasion | NCIT:C159311 | MONDO:equivalentTo | Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Microinvasion | | MONDO:0003756 | -| MONDO:0854828 | bladder rhabdomyosarcoma | NCIT:C159667 | MONDO:equivalentTo | Bladder Rhabdomyosarcoma | | MONDO:0001374|MONDO:0005212 | -| MONDO:0854831 | bladder leiomyosarcoma | NCIT:C159670 | MONDO:equivalentTo | Bladder Leiomyosarcoma | | MONDO:0001374|MONDO:0005058 | -| MONDO:0854838 | bladder hemangioma | NCIT:C159680 | MONDO:equivalentTo | Bladder Hemangioma | | MONDO:0000384|MONDO:0006500 | -| MONDO:0854839 | bladder granular cell tumor | NCIT:C159681 | MONDO:equivalentTo | Bladder Granular Cell Tumor | | MONDO:0006235|MONDO:0004987 | -| MONDO:0854840 | bladder neurofibroma | NCIT:C159682 | MONDO:equivalentTo | Bladder Neurofibroma | | MONDO:0000384|MONDO:0016755 | -| MONDO:0854841 | ebv-related lymphoproliferative disorder | NCIT:C159717 | MONDO:equivalentTo | EBV-Related Lymphoproliferative Disorder | | | -| MONDO:0854843 | platinum-sensitive ovarian carcinoma | NCIT:C159902 | MONDO:equivalentTo | Platinum-Sensitive Ovarian Carcinoma | | MONDO:0005140 | -| MONDO:0854845 | carcinoma arising in bladder diverticulum | NCIT:C160158 | MONDO:equivalentTo | Carcinoma Arising in Bladder Diverticulum | | MONDO:0004986 | -| MONDO:0854847 | metastatic nut carcinoma | NCIT:C160297 | MONDO:equivalentTo | Metastatic NUT Carcinoma | | MONDO:0005563|MONDO:0024879 | -| MONDO:0854850 | hematologic malignancy-associated skin squamous cell carcinoma | NCIT:C160666 | MONDO:equivalentTo | Hematologic Malignancy-Associated Skin Squamous Cell Carcinoma | | MONDO:0002529 | -| MONDO:0854854 | prostate acinar microcystic adenocarcinoma | NCIT:C160817 | MONDO:equivalentTo | Prostate Acinar Microcystic Adenocarcinoma | | MONDO:0002493 | -| MONDO:0854855 | prostate acinar pleomorphic giant cell adenocarcinoma | NCIT:C160818 | MONDO:equivalentTo | Prostate Acinar Pleomorphic Giant Cell Adenocarcinoma | | MONDO:0002493 | -| MONDO:0854859 | platinum-sensitive primary peritoneal carcinoma | NCIT:C160872 | MONDO:equivalentTo | Platinum-Sensitive Primary Peritoneal Carcinoma | | MONDO:0015686 | -| MONDO:0854860 | platinum-sensitive fallopian tube carcinoma | NCIT:C160873 | MONDO:equivalentTo | Platinum-Sensitive Fallopian Tube Carcinoma | | MONDO:0006206 | -| MONDO:0854866 | cribriform adenocarcinoma of minor salivary gland | NCIT:C160974 | MONDO:equivalentTo | Cribriform Adenocarcinoma of Minor Salivary Gland | | MONDO:0006304|MONDO:0006176 | -| MONDO:0854867 | sinonasal adenocarcinoma | NCIT:C160976 | MONDO:equivalentTo | Sinonasal Adenocarcinoma | | MONDO:0056819|MONDO:0004970 | -| MONDO:0854868 | head and neck sebaceous carcinoma | NCIT:C160978 | MONDO:equivalentTo | Head and Neck Sebaceous Carcinoma | | MONDO:0006962|MONDO:0002038 | -| MONDO:0854872 | prostate intraductal carcinoma | NCIT:C161022 | MONDO:equivalentTo | Prostate Intraductal Carcinoma | | MONDO:0005159 | -| MONDO:0854873 | prostate synovial sarcoma | NCIT:C161034 | MONDO:equivalentTo | Prostate Synovial Sarcoma | | MONDO:0002854|MONDO:0010434 | -| MONDO:0854874 | prostate osteosarcoma | NCIT:C161035 | MONDO:equivalentTo | Prostate Osteosarcoma | | MONDO:0002621|MONDO:0002854 | -| MONDO:0854875 | prostate undifferentiated pleomorphic sarcoma | NCIT:C161038 | MONDO:equivalentTo | Prostate Undifferentiated Pleomorphic Sarcoma | | MONDO:0002854|MONDO:0002142 | -| MONDO:0854877 | prostate soft tissue neoplasm | NCIT:C161045 | MONDO:equivalentTo | Prostate Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0021259 | -| MONDO:0854881 | prostate hemangioma | NCIT:C161581 | MONDO:equivalentTo | Prostate Hemangioma | | MONDO:0021510|MONDO:0006500 | -| MONDO:0854886 | prostate carcinoma metastatic in the lymph nodes | NCIT:C161587 | MONDO:equivalentTo | Prostate Carcinoma Metastatic in the Lymph Nodes | | MONDO:0004956|MONDO:0005438 | -| MONDO:0854888 | prostate cystadenoma | NCIT:C161606 | MONDO:equivalentTo | Prostate Cystadenoma | | MONDO:0021510|MONDO:0002369 | -| MONDO:0854889 | prostate wilms tumor | NCIT:C161607 | MONDO:equivalentTo | Prostate Wilms Tumor | | MONDO:0008315|MONDO:0006058 | -| MONDO:0854891 | prostate melanoma | NCIT:C161611 | MONDO:equivalentTo | Prostate Melanoma | | MONDO:0006320|MONDO:0008315 | -| MONDO:0854893 | seminal vesicle mixed epithelial and stromal tumor | NCIT:C161636 | MONDO:equivalentTo | Seminal Vesicle Mixed Epithelial and Stromal Tumor | | MONDO:0021043|MONDO:0002790 | -| MONDO:0854895 | benign seminal vesicle neoplasm | NCIT:C161643 | MONDO:equivalentTo | Benign Seminal Vesicle Neoplasm | | MONDO:0000625|MONDO:0002790 | -| MONDO:0854896 | malignant seminal vesicle neoplasm | NCIT:C161644 | MONDO:equivalentTo | Malignant Seminal Vesicle Neoplasm | | MONDO:0005836|MONDO:0002790 | -| MONDO:0854902 | regressed testicular germ cell tumor | NCIT:C162139 | MONDO:equivalentTo | Regressed Testicular Germ Cell Tumor | | MONDO:0010108 | -| MONDO:0854909 | cervical cancer by figo stage 2018 | NCIT:C162225 | MONDO:equivalentTo | Cervical Cancer by FIGO Stage 2018 | | MONDO:0005131 | -| MONDO:0854911 | metastatic malignant digestive system neoplasm | NCIT:C162255 | MONDO:equivalentTo | Metastatic Malignant Digestive System Neoplasm | | MONDO:0002516|MONDO:0024880 | -| MONDO:0854912 | hypermutated colorectal carcinoma | NCIT:C162256 | MONDO:equivalentTo | Hypermutated Colorectal Carcinoma | | MONDO:0024331 | -| MONDO:0854925 | thymic neuroendocrine neoplasm | NCIT:C162460 | MONDO:equivalentTo | Thymic Neuroendocrine Neoplasm | | MONDO:0018079|MONDO:0019496 | -| MONDO:0854927 | intratubular large cell hyalinizing sertoli cell neoplasia | NCIT:C162466 | MONDO:equivalentTo | Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia | | MONDO:0003125 | -| MONDO:0854928 | testicular diffuse large b-cell lymphoma | NCIT:C162467 | MONDO:equivalentTo | Testicular Diffuse Large B-Cell Lymphoma | | MONDO:0018905|MONDO:0001472 | -| MONDO:0854929 | testicular nasal type extranodal nk/t-cell lymphoma | NCIT:C162468 | MONDO:equivalentTo | Testicular Nasal Type Extranodal NK/T-Cell Lymphoma | | MONDO:0001472|MONDO:0019472 | -| MONDO:0854930 | testicular myeloid sarcoma | NCIT:C162469 | MONDO:equivalentTo | Testicular Myeloid Sarcoma | | MONDO:0005447|MONDO:0006861 | -| MONDO:0854931 | testicular plasmacytoma | NCIT:C162470 | MONDO:equivalentTo | Testicular Plasmacytoma | | MONDO:0005447|MONDO:0002754 | -| MONDO:0854936 | paratesticular neoplasm | NCIT:C162485 | MONDO:equivalentTo | Paratesticular Neoplasm | | MONDO:0024582 | -| MONDO:0854952 | penile melanoma | NCIT:C162547 | MONDO:equivalentTo | Penile Melanoma | | MONDO:0001325|MONDO:0005105 | -| MONDO:0854953 | penile lymphoma | NCIT:C162548 | MONDO:equivalentTo | Penile Lymphoma | | MONDO:0001325|MONDO:0017207 | -| MONDO:0854955 | primary peritoneal undifferentiated carcinoma | NCIT:C162562 | MONDO:equivalentTo | Primary Peritoneal Undifferentiated Carcinoma | | MONDO:0015686|MONDO:0005617 | -| MONDO:0854956 | primary peritoneal transitional cell carcinoma | NCIT:C162564 | MONDO:equivalentTo | Primary Peritoneal Transitional Cell Carcinoma | | MONDO:0015686|MONDO:0006474 | -| MONDO:0854959 | penile soft tissue neoplasm | NCIT:C162574 | MONDO:equivalentTo | Penile Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0006895 | -| MONDO:0854966 | penile malignant peripheral nerve sheath tumor | NCIT:C162584 | MONDO:equivalentTo | Penile Malignant Peripheral Nerve Sheath Tumor | | MONDO:0001387|MONDO:0017827 | -| MONDO:0854967 | penile leiomyosarcoma | NCIT:C162585 | MONDO:equivalentTo | Penile Leiomyosarcoma | | MONDO:0001387|MONDO:0005058 | -| MONDO:0854968 | penile schwannoma | NCIT:C162586 | MONDO:equivalentTo | Penile Schwannoma | | MONDO:0004820|MONDO:0021458 | -| MONDO:0854969 | penile neurofibroma | NCIT:C162587 | MONDO:equivalentTo | Penile Neurofibroma | | MONDO:0021458|MONDO:0016755 | -| MONDO:0854970 | penile rhabdomyosarcoma | NCIT:C162588 | MONDO:equivalentTo | Penile Rhabdomyosarcoma | | MONDO:0001387|MONDO:0005212 | -| MONDO:0854971 | penile undifferentiated pleomorphic sarcoma | NCIT:C162589 | MONDO:equivalentTo | Penile Undifferentiated Pleomorphic Sarcoma | | MONDO:0001387|MONDO:0002142 | -| MONDO:0854974 | metastatic malignant neoplasm in the head and neck | NCIT:C162594 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Head and Neck | | MONDO:0005627|MONDO:0024880 | -| MONDO:0854984 | refractory childhood malignant neoplasm | NCIT:C162703 | MONDO:equivalentTo | Refractory Childhood Malignant Neoplasm | | MONDO:0006517|MONDO:0036501 | -| MONDO:0854998 | asph-positive head and neck squamous cell carcinoma | NCIT:C162770 | MONDO:equivalentTo | ASPH-Positive Head and Neck Squamous Cell Carcinoma | | MONDO:0010150 | -| MONDO:0855003 | parapharyngeal neoplasm | NCIT:C162820 | MONDO:equivalentTo | Parapharyngeal Neoplasm | | MONDO:0021351 | -| MONDO:0855006 | retropharyngeal neoplasm | NCIT:C162825 | MONDO:equivalentTo | Retropharyngeal Neoplasm | | MONDO:0021351 | -| MONDO:0855015 | non-invasive cribriform carcinoma | NCIT:C162973 | MONDO:equivalentTo | Non-Invasive Cribriform Carcinoma | | MONDO:0006176 | -| MONDO:0855016 | malignant brain glioma | NCIT:C162993 | MONDO:equivalentTo | Malignant Brain Glioma | | MONDO:0100342|MONDO:0001657|MONDO:0021632 | -| MONDO:0855028 | micropapillary carcinoma | NCIT:C164144 | MONDO:equivalentTo | Micropapillary Carcinoma | | MONDO:0006509 | -| MONDO:0855034 | aggressive prostate adenocarcinoma | NCIT:C164185 | MONDO:equivalentTo | Aggressive Prostate Adenocarcinoma | | MONDO:0005082 | -| MONDO:0855035 | head and neck sarcoma | NCIT:C164198 | MONDO:equivalentTo | Head and Neck Sarcoma | | MONDO:0005089|MONDO:0005627 | -| MONDO:0855040 | warty carcinoma | NCIT:C164248 | MONDO:equivalentTo | Warty Carcinoma | | MONDO:0002979 | -| MONDO:0855041 | differentiated intraepithelial neoplasia | NCIT:C164249 | MONDO:equivalentTo | Differentiated Intraepithelial Neoplasia | | MONDO:0024474 | -| MONDO:0855042 | human papillomavirus-independent squamous cell carcinoma | NCIT:C164250 | MONDO:equivalentTo | Human Papillomavirus-Independent Squamous Cell Carcinoma | | MONDO:0005096 | -| MONDO:0855043 | invasive sarcomatoid urothelial carcinoma | NCIT:C164252 | MONDO:equivalentTo | Invasive Sarcomatoid Urothelial Carcinoma | | MONDO:0002837|MONDO:0040678 | -| MONDO:0855044 | mixed neuroendocrine non-neuroendocrine neoplasm | NCIT:C164255 | MONDO:equivalentTo | Mixed Neuroendocrine Non-Neuroendocrine Neoplasm | | MONDO:0021043|MONDO:0005626 | -| MONDO:0855047 | nf1-associated malignant peripheral nerve sheath tumor | NCIT:C164313 | MONDO:equivalentTo | NF1-Associated Malignant Peripheral Nerve Sheath Tumor | | MONDO:0017827 | -| MONDO:0855048 | sporadic malignant peripheral nerve sheath tumor | NCIT:C164314 | MONDO:equivalentTo | Sporadic Malignant Peripheral Nerve Sheath Tumor | | MONDO:0017827 | -| MONDO:0855049 | radiation-induced malignant peripheral nerve sheath tumor | NCIT:C164316 | MONDO:equivalentTo | Radiation-Induced Malignant Peripheral Nerve Sheath Tumor | | MONDO:0017827 | -| MONDO:0855058 | soft tissue sarcoma of the trunk and extremities | NCIT:C165190 | MONDO:equivalentTo | Soft Tissue Sarcoma of the Trunk and Extremities | | MONDO:0018078 | -| MONDO:0855059 | metastatic malignant mesothelioma | NCIT:C165252 | MONDO:equivalentTo | Metastatic Malignant Mesothelioma | | MONDO:0006292|MONDO:0024880 | -| MONDO:0855079 | skin verrucous carcinoma | NCIT:C165465 | MONDO:equivalentTo | Skin Verrucous Carcinoma | | MONDO:0002529|MONDO:0006006 | -| MONDO:0855080 | skin squamous cell carcinoma with osteoclast-like giant cells | NCIT:C165466 | MONDO:equivalentTo | Skin Squamous Cell Carcinoma with Osteoclast-Like Giant Cells | | MONDO:0002529 | -| MONDO:0855081 | skin lymphoepithelial carcinoma | NCIT:C165467 | MONDO:equivalentTo | Skin Lymphoepithelial Carcinoma | | MONDO:0002529|MONDO:0003572 | -| MONDO:0855082 | skin squamous cell carcinoma with sarcomatoid differentiation | NCIT:C165468 | MONDO:equivalentTo | Skin Squamous Cell Carcinoma with Sarcomatoid Differentiation | | MONDO:0002529|MONDO:0002928 | -| MONDO:0855085 | lichen planus-like keratosis | NCIT:C165485 | MONDO:equivalentTo | Lichen Planus-Like Keratosis | | MONDO:0002093 | -| MONDO:0855094 | combined nevus | NCIT:C165529 | MONDO:equivalentTo | Combined Nevus | | MONDO:0044794 | -| MONDO:0855104 | proximal gastric adenocarcinoma | NCIT:C165628 | MONDO:equivalentTo | Proximal Gastric Adenocarcinoma | | MONDO:0005036 | -| MONDO:0855113 | mixed carcinoma | NCIT:C165723 | MONDO:equivalentTo | Mixed Carcinoma | | MONDO:0005853|MONDO:0004993 | -| MONDO:0855116 | hormone receptor-negative breast carcinoma | NCIT:C165743 | MONDO:equivalentTo | Hormone Receptor-Negative Breast Carcinoma | | MONDO:0004988 | -| MONDO:0855127 | musculoskeletal neoplasm | NCIT:C166354 | MONDO:equivalentTo | Musculoskeletal Neoplasm | | MONDO:0044334|MONDO:0002081 | -| MONDO:0855132 | pancreatobiliary carcinoma | NCIT:C166418 | MONDO:equivalentTo | Pancreatobiliary Carcinoma | | MONDO:0006181 | -| MONDO:0855139 | acute myeloid leukemia with ram immunophenotype | NCIT:C167089 | MONDO:equivalentTo | Acute Myeloid Leukemia with RAM Immunophenotype | | MONDO:0004996 | -| MONDO:0855140 | obesity-related malignant neoplasm | NCIT:C167168 | MONDO:equivalentTo | Obesity-Related Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0855143 | metastatic primary peritoneal carcinoma | NCIT:C167203 | MONDO:equivalentTo | Metastatic Primary Peritoneal Carcinoma | | MONDO:0015686|MONDO:0024879 | -| MONDO:0855150 | midgut neuroendocrine tumor | NCIT:C167327 | MONDO:equivalentTo | Midgut Neuroendocrine Tumor | | MONDO:0000386 | -| MONDO:0855151 | adnexal adenocarcinoma, not otherwise specified | NCIT:C167341 | MONDO:equivalentTo | Adnexal Adenocarcinoma, Not Otherwise Specified | | MONDO:0006973|MONDO:0004970 | -| MONDO:0855152 | spiradenocylindroma | NCIT:C167342 | MONDO:equivalentTo | Spiradenocylindroma | | MONDO:0021489 | -| MONDO:0855153 | spiradenocylindrocarcinoma | NCIT:C167344 | MONDO:equivalentTo | Spiradenocylindrocarcinoma | | MONDO:0005524|MONDO:0024878 | -| MONDO:0855154 | malignant mixed tumor of the skin | NCIT:C167346 | MONDO:equivalentTo | Malignant Mixed Tumor of the Skin | | MONDO:0002206|MONDO:0005853 | -| MONDO:0855157 | syringocystadenocarcinoma papilliferum | NCIT:C167365 | MONDO:equivalentTo | Syringocystadenocarcinoma Papilliferum | | MONDO:0005524 | -| MONDO:0855158 | adnexal cribriform carcinoma | NCIT:C167366 | MONDO:equivalentTo | Adnexal Cribriform Carcinoma | | MONDO:0006973|MONDO:0006176 | -| MONDO:0855159 | adnexal secretory carcinoma | NCIT:C167368 | MONDO:equivalentTo | Adnexal Secretory Carcinoma | | MONDO:0006973|MONDO:0004970 | -| MONDO:0855160 | signet ring cell/histiocytoid carcinoma | NCIT:C167369 | MONDO:equivalentTo | Signet Ring Cell/Histiocytoid Carcinoma | | MONDO:0006973|MONDO:0004970 | -| MONDO:0855173 | resectable glioma | NCIT:C168573 | MONDO:equivalentTo | Resectable Glioma | | MONDO:0021042 | -| MONDO:0855181 | phyllodes tumor of anogenital mammary-type glands | NCIT:C168602 | MONDO:equivalentTo | Phyllodes Tumor of Anogenital Mammary-Type Glands | | MONDO:0005078 | -| MONDO:0855182 | metastatic malignant neoplasm in the digestive system | NCIT:C168669 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Digestive System | | MONDO:0002516|MONDO:0024880 | -| MONDO:0855187 | unresectable round cell liposarcoma | NCIT:C168724 | MONDO:equivalentTo | Unresectable Round Cell Liposarcoma | | MONDO:0005238 | -| MONDO:0855221 | skin soft tissue neoplasm | NCIT:C169100 | MONDO:equivalentTo | Skin Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0002531 | -| MONDO:0855230 | metastatic malignant head and neck neoplasm | NCIT:C170467 | MONDO:equivalentTo | Metastatic Malignant Head and Neck Neoplasm | | MONDO:0005627|MONDO:0024880 | -| MONDO:0855232 | skin pleomorphic liposarcoma | NCIT:C170473 | MONDO:equivalentTo | Skin Pleomorphic Liposarcoma | | MONDO:0003600|MONDO:0020562 | -| MONDO:0855235 | skin angiolipoma | NCIT:C170478 | MONDO:equivalentTo | Skin Angiolipoma | | MONDO:0000964|MONDO:0006085 | -| MONDO:0855238 | benign periampullary neoplasm | NCIT:C170725 | MONDO:equivalentTo | Benign Periampullary Neoplasm | | MONDO:0006734 | -| MONDO:0855241 | metastatic malignant breast neoplasm | NCIT:C170728 | MONDO:equivalentTo | Metastatic Malignant Breast Neoplasm | | MONDO:0007254|MONDO:0024880 | -| MONDO:0855243 | primary peritoneal adenocarcinoma | NCIT:C170733 | MONDO:equivalentTo | Primary Peritoneal Adenocarcinoma | | MONDO:0015686|MONDO:0004970 | -| MONDO:0855244 | appendix mucinous neoplasm | NCIT:C170734 | MONDO:equivalentTo | Appendix Mucinous Neoplasm | | MONDO:0024338|MONDO:0001236 | -| MONDO:0855245 | pleomorphic fibroma | NCIT:C170736 | MONDO:equivalentTo | Pleomorphic Fibroma | | MONDO:0005167 | -| MONDO:0855249 | non-muscle invasive bladder urothelial carcinoma | NCIT:C170772 | MONDO:equivalentTo | Non-Muscle Invasive Bladder Urothelial Carcinoma | | MONDO:0003890|MONDO:0004200 | -| MONDO:0855250 | alveolar ridge squamous cell carcinoma | NCIT:C170774 | MONDO:equivalentTo | Alveolar Ridge Squamous Cell Carcinoma | | MONDO:0004958 | -| MONDO:0855252 | metastatic malignant skin neoplasm | NCIT:C170811 | MONDO:equivalentTo | Metastatic Malignant Skin Neoplasm | | MONDO:0024880|MONDO:0002898 | -| MONDO:0855256 | metastatic rhabdoid tumor | NCIT:C170828 | MONDO:equivalentTo | Metastatic Rhabdoid Tumor | | MONDO:0002728|MONDO:0024880 | -| MONDO:0855262 | malignant jejunal neoplasm | NCIT:C170919 | MONDO:equivalentTo | Malignant Jejunal Neoplasm | | MONDO:0002564|MONDO:0000956 | -| MONDO:0855263 | metastatic carcinosarcoma | NCIT:C170924 | MONDO:equivalentTo | Metastatic Carcinosarcoma | | MONDO:0024880|MONDO:0002928 | -| MONDO:0855266 | malignant fundus neoplasm | NCIT:C170940 | MONDO:equivalentTo | Malignant Fundus Neoplasm | | MONDO:0001056 | -| MONDO:0855281 | human papillomavirus-related mucosal head and neck squamous cell carcinoma | NCIT:C171023 | MONDO:equivalentTo | Human Papillomavirus-Related Mucosal Head and Neck Squamous Cell Carcinoma | | MONDO:0010150|MONDO:0020657 | -| MONDO:0855283 | ovarian neuroendocrine carcinoma | NCIT:C171032 | MONDO:equivalentTo | Ovarian Neuroendocrine Carcinoma | | MONDO:0002481|MONDO:0005140 | -| MONDO:0855284 | endometrial neuroendocrine carcinoma | NCIT:C171033 | MONDO:equivalentTo | Endometrial Neuroendocrine Carcinoma | | MONDO:0002447|MONDO:0021650 | -| MONDO:0855285 | mediastinal non-hodgkin lymphoma | NCIT:C171037 | MONDO:equivalentTo | Mediastinal Non-Hodgkin Lymphoma | | MONDO:0004021|MONDO:0018908 | -| MONDO:0855297 | oligometastatic prostate carcinoma | NCIT:C171265 | MONDO:equivalentTo | Oligometastatic Prostate Carcinoma | | MONDO:0004956 | -| MONDO:0855330 | acute myeloid leukemia arising from previous myeloproliferative neoplasm | NCIT:C172129 | MONDO:equivalentTo | Acute Myeloid Leukemia Arising from Previous Myeloproliferative Neoplasm | | MONDO:0019457 | -| MONDO:0855331 | acute myeloid leukemia arising from previous myelodysplastic/myeloproliferative neoplasm | NCIT:C172130 | MONDO:equivalentTo | Acute Myeloid Leukemia Arising from Previous Myelodysplastic/Myeloproliferative Neoplasm | | MONDO:0019457 | -| MONDO:0855335 | progesterone receptor-positive malignant neoplasm | NCIT:C172183 | MONDO:equivalentTo | Progesterone Receptor-Positive Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0855336 | sinusoidal hemangioma | NCIT:C172206 | MONDO:equivalentTo | Sinusoidal Hemangioma | | MONDO:0006557 | -| MONDO:0855346 | refractory myeloid neoplasm | NCIT:C172281 | MONDO:equivalentTo | Refractory Myeloid Neoplasm | | MONDO:0005170|MONDO:0004111 | -| MONDO:0855368 | skin ewing sarcoma | NCIT:C172634 | MONDO:equivalentTo | Skin Ewing Sarcoma | | MONDO:0018270|MONDO:0006414 | -| MONDO:0855377 | oxyntic gland adenoma | NCIT:C172655 | MONDO:equivalentTo | Oxyntic Gland Adenoma | | MONDO:0006221 | -| MONDO:0855378 | gastroblastoma | NCIT:C172659 | MONDO:equivalentTo | Gastroblastoma | | MONDO:0001056 | -| MONDO:0855386 | colorectal conventional adenoma | NCIT:C172680 | MONDO:equivalentTo | Colorectal Conventional Adenoma | | MONDO:0005484 | -| MONDO:0855389 | colorectal poorly cohesive adenocarcinoma | NCIT:C172694 | MONDO:equivalentTo | Colorectal Poorly Cohesive Adenocarcinoma | | MONDO:0005008 | -| MONDO:0855390 | colorectal adenoma-like adenocarcinoma | NCIT:C172699 | MONDO:equivalentTo | Colorectal Adenoma-Like Adenocarcinoma | | MONDO:0005008|MONDO:0003204 | -| MONDO:0855391 | inflammatory bowel disease-associated colorectal adenocarcinoma | NCIT:C172700 | MONDO:equivalentTo | Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma | | MONDO:0005008 | -| MONDO:0855393 | steatohepatitic hepatocellular carcinoma | NCIT:C172709 | MONDO:equivalentTo | Steatohepatitic Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0855394 | macrotrabecular massive hepatocellular carcinoma | NCIT:C172710 | MONDO:equivalentTo | Macrotrabecular Massive Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0855395 | chromophobe hepatocellular carcinoma | NCIT:C172712 | MONDO:equivalentTo | Chromophobe Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0855396 | neutrophil-rich hepatocellular carcinoma | NCIT:C172713 | MONDO:equivalentTo | Neutrophil-Rich Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0855397 | small hepatocellular carcinoma | NCIT:C172714 | MONDO:equivalentTo | Small Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0855398 | liver mixed adenoneuroendocrine carcinoma | NCIT:C172718 | MONDO:equivalentTo | Liver Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0018531 | -| MONDO:0855401 | gallbladder pyloric gland adenoma | NCIT:C172731 | MONDO:equivalentTo | Gallbladder Pyloric Gland Adenoma | | MONDO:0006216 | -| MONDO:0855408 | pancreatic poorly cohesive adenocarcinoma | NCIT:C172811 | MONDO:equivalentTo | Pancreatic Poorly Cohesive Adenocarcinoma | | MONDO:0005184 | -| MONDO:0855409 | pancreatic undifferentiated carcinoma with rhabdoid cells | NCIT:C172812 | MONDO:equivalentTo | Pancreatic Undifferentiated Carcinoma with Rhabdoid Cells | | MONDO:0006478 | -| MONDO:0855413 | conventional follicular dendritic cell sarcoma | NCIT:C172846 | MONDO:equivalentTo | Conventional Follicular Dendritic Cell Sarcoma | | MONDO:0005764 | -| MONDO:0855418 | digestive system soft tissue neoplasm | NCIT:C172852 | MONDO:equivalentTo | Digestive System Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0021223 | -| MONDO:0855432 | sinonasal spindle cell squamous carcinoma | NCIT:C173079 | MONDO:equivalentTo | Sinonasal Spindle Cell Squamous Carcinoma | | MONDO:0044787|MONDO:0021663 | -| MONDO:0855433 | sinonasal lymphoepithelial carcinoma | NCIT:C173080 | MONDO:equivalentTo | Sinonasal Lymphoepithelial Carcinoma | | MONDO:0002831|MONDO:0003572 | -| MONDO:0855435 | head and neck nut carcinoma | NCIT:C173087 | MONDO:equivalentTo | Head and Neck NUT Carcinoma | | MONDO:0005563|MONDO:0002038 | -| MONDO:0855439 | malignant sinonasal neoplasm | NCIT:C173097 | MONDO:equivalentTo | Malignant Sinonasal Neoplasm | | MONDO:0056820|MONDO:0005627 | -| MONDO:0855471 | peritoneal implant | NCIT:C173164 | MONDO:equivalentTo | Peritoneal Implant | | MONDO:0006901 | -| MONDO:0855472 | sinonasal ameloblastoma | NCIT:C173166 | MONDO:equivalentTo | Sinonasal Ameloblastoma | | MONDO:0056820 | -| MONDO:0855481 | microsatellite stable colorectal carcinoma | NCIT:C173324 | MONDO:equivalentTo | Microsatellite Stable Colorectal Carcinoma | | MONDO:0024331 | -| MONDO:0855487 | nasopharyngeal adenoid cystic carcinoma | NCIT:C173340 | MONDO:equivalentTo | Nasopharyngeal Adenoid Cystic Carcinoma | | MONDO:0006367|MONDO:0015459 | -| MONDO:0855489 | ectopic pituitary neuroendocrine tumor | NCIT:C173345 | MONDO:equivalentTo | Ectopic Pituitary Neuroendocrine Tumor | | MONDO:0006373 | -| MONDO:0855495 | cutaneous merkel cell carcinoma | NCIT:C173385 | MONDO:equivalentTo | Cutaneous Merkel Cell Carcinoma | | MONDO:0019210|MONDO:0002656 | -| MONDO:0855506 | laryngeal chondroma | NCIT:C173406 | MONDO:equivalentTo | Laryngeal Chondroma | | MONDO:0002360|MONDO:0002354 | -| MONDO:0855507 | laryngeal chondrosarcoma | NCIT:C173407 | MONDO:equivalentTo | Laryngeal Chondrosarcoma | | MONDO:0002448|MONDO:0008977 | -| MONDO:0855526 | head and neck melanocytic neoplasm | NCIT:C173488 | MONDO:equivalentTo | Head and Neck Melanocytic Neoplasm | | MONDO:0021143|MONDO:0005586 | -| MONDO:0855532 | refractory primitive neuroectodermal tumor | NCIT:C173565 | MONDO:equivalentTo | Refractory Primitive Neuroectodermal Tumor | | MONDO:0005462|MONDO:0036501 | -| MONDO:0855540 | head and neck heterotopia-associated carcinoma | NCIT:C173588 | MONDO:equivalentTo | Head and Neck Heterotopia-Associated Carcinoma | | MONDO:0002038 | -| MONDO:0855551 | salivary gland poorly differentiated carcinoma | NCIT:C173649 | MONDO:equivalentTo | Salivary Gland Poorly Differentiated Carcinoma | | MONDO:0000521 | -| MONDO:0855553 | salivary gland lymphadenoma | NCIT:C173659 | MONDO:equivalentTo | Salivary Gland Lymphadenoma | | MONDO:0021460 | -| MONDO:0855558 | sialolipoma | NCIT:C173682 | MONDO:equivalentTo | Sialolipoma | | MONDO:0021460 | -| MONDO:0855575 | appendix disorder | NCIT:C173799 | MONDO:equivalentTo | Appendix Disorder | | | -| MONDO:0855576 | retroperitoneal undifferentiated pleomorphic sarcoma | NCIT:C173808 | MONDO:equivalentTo | Retroperitoneal Undifferentiated Pleomorphic Sarcoma | | MONDO:0001501|MONDO:0002142 | -| MONDO:0855577 | lung alveolar soft part sarcoma | NCIT:C173809 | MONDO:equivalentTo | Lung Alveolar Soft Part Sarcoma | | MONDO:0002426|MONDO:0011655 | -| MONDO:0855584 | maxillofacial neoplasm | NCIT:C173845 | MONDO:equivalentTo | Maxillofacial Neoplasm | | MONDO:0019060|MONDO:0024653 | -| MONDO:0855590 | craniofacial fibrous dysplasia | NCIT:C173926 | MONDO:equivalentTo | Craniofacial Fibrous Dysplasia | | MONDO:0000845 | -| MONDO:0855591 | benign head and neck neoplasm | NCIT:C173932 | MONDO:equivalentTo | Benign Head and Neck Neoplasm | | MONDO:0005165|MONDO:0005586 | -| MONDO:0855593 | aggressive papillary tumor | NCIT:C174022 | MONDO:equivalentTo | Aggressive Papillary Tumor | | MONDO:0021096|MONDO:0021366 | -| MONDO:0855594 | benign inner ear neoplasm | NCIT:C174023 | MONDO:equivalentTo | Benign Inner Ear Neoplasm | | MONDO:0021474|MONDO:0024320 | -| MONDO:0855597 | malignant inner ear neoplasm | NCIT:C174026 | MONDO:equivalentTo | Malignant Inner Ear Neoplasm | | MONDO:0003277|MONDO:0024320 | -| MONDO:0855616 | conjunctival oncocytoma | NCIT:C174388 | MONDO:equivalentTo | Conjunctival Oncocytoma | | MONDO:0010795|MONDO:0006105 | -| MONDO:0855617 | conjunctival keratoacanthoma | NCIT:C174390 | MONDO:equivalentTo | Conjunctival Keratoacanthoma | | MONDO:0006173|MONDO:0002527 | -| MONDO:0855618 | conjunctival spindle cell carcinoma | NCIT:C174398 | MONDO:equivalentTo | Conjunctival Spindle Cell Carcinoma | | MONDO:0006173|MONDO:0021663 | -| MONDO:0855620 | conjunctival carcinoma | NCIT:C174403 | MONDO:equivalentTo | Conjunctival Carcinoma | | MONDO:0002466|MONDO:0003454 | -| MONDO:0855625 | conjunctival subepithelial (stromal) nevus | NCIT:C174426 | MONDO:equivalentTo | Conjunctival Subepithelial (Stromal) Nevus | | MONDO:0006172 | -| MONDO:0855630 | conjunctival blue nevus | NCIT:C174452 | MONDO:equivalentTo | Conjunctival Blue Nevus | | MONDO:0006172 | -| MONDO:0855631 | atypical ewing sarcoma | NCIT:C174456 | MONDO:equivalentTo | Atypical Ewing Sarcoma | | MONDO:0012817 | -| MONDO:0855633 | conjunctival spitz nevus | NCIT:C174493 | MONDO:equivalentTo | Conjunctival Spitz Nevus | | MONDO:0006172 | -| MONDO:0855634 | metastatic malignant neoplasm in the conjunctiva | NCIT:C174496 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Conjunctiva | | MONDO:0044913|MONDO:0003454 | -| MONDO:0855635 | iris epithelioid cell melanoma | NCIT:C174498 | MONDO:equivalentTo | Iris Epithelioid Cell Melanoma | | MONDO:0004064|MONDO:0006200 | -| MONDO:0855640 | iris mixed epithelioid and spindle cell melanoma | NCIT:C174506 | MONDO:equivalentTo | Iris Mixed Epithelioid and Spindle Cell Melanoma | | MONDO:0004064|MONDO:0003910 | -| MONDO:0855641 | metastatic malignant neoplasm in the uvea | NCIT:C174507 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Uvea | | MONDO:0002659|MONDO:0044913 | -| MONDO:0855646 | retinal astrocytoma | NCIT:C174539 | MONDO:equivalentTo | Retinal Astrocytoma | | MONDO:0024649|MONDO:0021231 | -| MONDO:0855649 | adenoma of the retinal pigment epithelium | NCIT:C174550 | MONDO:equivalentTo | Adenoma of the Retinal Pigment Epithelium | | MONDO:0021453|MONDO:0004972 | -| MONDO:0855650 | retinal pigment epithelium adenocarcinoma | NCIT:C174551 | MONDO:equivalentTo | Retinal Pigment Epithelium Adenocarcinoma | | MONDO:0002466|MONDO:0003072|MONDO:0004970 | -| MONDO:0855653 | ciliary body adenoma | NCIT:C174560 | MONDO:equivalentTo | Ciliary Body Adenoma | | MONDO:0021486|MONDO:0004972 | -| MONDO:0855654 | ciliary body adenocarcinoma | NCIT:C174561 | MONDO:equivalentTo | Ciliary Body Adenocarcinoma | | MONDO:0002466|MONDO:0002969|MONDO:0004970 | -| MONDO:0855667 | incidental gallbladder carcinoma | NCIT:C175214 | MONDO:equivalentTo | Incidental Gallbladder Carcinoma | | MONDO:0003220 | -| MONDO:0855668 | metastatic malignant neoplasm in the regional lymph nodes | NCIT:C175222 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Regional Lymph Nodes | | MONDO:0005438 | -| MONDO:0855669 | lacrimal gland oncocytoma | NCIT:C175264 | MONDO:equivalentTo | Lacrimal Gland Oncocytoma | | MONDO:0010795|MONDO:0021488 | -| MONDO:0855671 | lacrimal gland myoepithelial carcinoma | NCIT:C175274 | MONDO:equivalentTo | Lacrimal Gland Myoepithelial Carcinoma | | MONDO:0003158|MONDO:0002463 | -| MONDO:0855672 | lacrimal gland carcinosarcoma | NCIT:C175279 | MONDO:equivalentTo | Lacrimal Gland Carcinosarcoma | | MONDO:0002464|MONDO:0002928 | -| MONDO:0855673 | lacrimal gland epithelial-myoepithelial carcinoma | NCIT:C175288 | MONDO:equivalentTo | Lacrimal Gland Epithelial-Myoepithelial Carcinoma | | MONDO:0002463|MONDO:0003389 | -| MONDO:0855674 | lacrimal gland acinic cell carcinoma | NCIT:C175290 | MONDO:equivalentTo | Lacrimal Gland Acinic Cell Carcinoma | | MONDO:0002475|MONDO:0004965 | -| MONDO:0855675 | lacrimal gland warthin tumor | NCIT:C175291 | MONDO:equivalentTo | Lacrimal Gland Warthin Tumor | | MONDO:0021488|MONDO:0006493 | -| MONDO:0855677 | benign lacrimal system neoplasm | NCIT:C175307 | MONDO:equivalentTo | Benign Lacrimal System Neoplasm | | MONDO:0002460|MONDO:0021454 | -| MONDO:0855678 | malignant lacrimal system neoplasm | NCIT:C175308 | MONDO:equivalentTo | Malignant Lacrimal System Neoplasm | | MONDO:0002460|MONDO:0002236 | -| MONDO:0855679 | lacrimal drainage system neoplasm | NCIT:C175316 | MONDO:equivalentTo | Lacrimal Drainage System Neoplasm | | MONDO:0002460 | -| MONDO:0855684 | lacrimal drainage system non-keratinizing squamous cell carcinoma | NCIT:C175335 | MONDO:equivalentTo | Lacrimal Drainage System Non-Keratinizing Squamous Cell Carcinoma | | MONDO:0003492 | -| MONDO:0855694 | conjunctival non-hodgkin lymphoma | NCIT:C175432 | MONDO:equivalentTo | Conjunctival Non-Hodgkin Lymphoma | | MONDO:0004034|MONDO:0003454 | -| MONDO:0855700 | primary uveal non-hodgkin lymphoma | NCIT:C175451 | MONDO:equivalentTo | Primary Uveal Non-Hodgkin Lymphoma | | MONDO:0004351|MONDO:0002659|MONDO:0017594 | -| MONDO:0855708 | conjunctival myxoma | NCIT:C175495 | MONDO:equivalentTo | Conjunctival Myxoma | | MONDO:0044784|MONDO:0006105 | -| MONDO:0855710 | conjunctival hemangioma | NCIT:C175497 | MONDO:equivalentTo | Conjunctival Hemangioma | | MONDO:0006105|MONDO:0006500 | -| MONDO:0855711 | conjunctival lymphangioma | NCIT:C175498 | MONDO:equivalentTo | Conjunctival Lymphangioma | | MONDO:0002013|MONDO:0006105 | -| MONDO:0855715 | conjunctival sarcoma | NCIT:C175502 | MONDO:equivalentTo | Conjunctival Sarcoma | | MONDO:0018078|MONDO:0003454 | -| MONDO:0855718 | malignant hypothalamic neoplasm | NCIT:C175539 | MONDO:equivalentTo | Malignant Hypothalamic Neoplasm | | MONDO:0002786|MONDO:0006799 | -| MONDO:0855721 | breast polymorphous adenocarcinoma | NCIT:C175604 | MONDO:equivalentTo | Breast Polymorphous Adenocarcinoma | | MONDO:0006256 | -| MONDO:0855722 | breast tall cell carcinoma with reversed polarity | NCIT:C175607 | MONDO:equivalentTo | Breast Tall Cell Carcinoma with Reversed Polarity | | MONDO:0006256 | -| MONDO:0855725 | metastatic malignant glomus tumor | NCIT:C175662 | MONDO:equivalentTo | Metastatic Malignant Glomus Tumor | | MONDO:0003340|MONDO:0024880 | -| MONDO:0855727 | locally invasive desmoid-type fibromatosis | NCIT:C175667 | MONDO:equivalentTo | Locally Invasive Desmoid-Type Fibromatosis | | MONDO:0007608 | -| MONDO:0855734 | metastatic malignant neoplasm in the supraclavicular lymph nodes | NCIT:C175934 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Supraclavicular Lymph Nodes | | MONDO:0005438 | -| MONDO:0855737 | breast classic lobular carcinoma in situ | NCIT:C175949 | MONDO:equivalentTo | Breast Classic Lobular Carcinoma In Situ | | MONDO:0006270 | -| MONDO:0855738 | breast florid lobular carcinoma in situ | NCIT:C175950 | MONDO:equivalentTo | Breast Florid Lobular Carcinoma In Situ | | MONDO:0006270 | -| MONDO:0855740 | breast ductal carcinoma in situ, comedo type | NCIT:C176005 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Comedo Type | | MONDO:0003575|MONDO:0005023 | -| MONDO:0855747 | ocular surface squamous neoplasia | NCIT:C176043 | MONDO:equivalentTo | Ocular Surface Squamous Neoplasia | | MONDO:0020204 | -| MONDO:0855748 | breast cellular fibroadenoma | NCIT:C176045 | MONDO:equivalentTo | Breast Cellular Fibroadenoma | | MONDO:0002056 | -| MONDO:0855749 | primary breast angiosarcoma | NCIT:C176251 | MONDO:equivalentTo | Primary Breast Angiosarcoma | | MONDO:0003024 | -| MONDO:0855751 | breast angiolipoma | NCIT:C176255 | MONDO:equivalentTo | Breast Angiolipoma | | MONDO:0000970|MONDO:0006085 | -| MONDO:0855753 | breast schwannoma | NCIT:C176414 | MONDO:equivalentTo | Breast Schwannoma | | MONDO:0000620|MONDO:0004820 | -| MONDO:0855754 | breast neurofibroma | NCIT:C176415 | MONDO:equivalentTo | Breast Neurofibroma | | MONDO:0000620|MONDO:0016755 | -| MONDO:0855756 | synovial chondrosarcoma | NCIT:C176467 | MONDO:equivalentTo | Synovial Chondrosarcoma | | MONDO:0018078|MONDO:0002403|MONDO:0008977 | -| MONDO:0855757 | male breast carcinoma in situ | NCIT:C176503 | MONDO:equivalentTo | Male Breast Carcinoma In Situ | | MONDO:0005628|MONDO:0004658 | -| MONDO:0855758 | invasive male breast carcinoma | NCIT:C176504 | MONDO:equivalentTo | Invasive Male Breast Carcinoma | | MONDO:0006256|MONDO:0005628 | -| MONDO:0855763 | invasive female breast carcinoma | NCIT:C176579 | MONDO:equivalentTo | Invasive Female Breast Carcinoma | | MONDO:0006256|MONDO:0004379 | -| MONDO:0855764 | female breast carcinoma in situ | NCIT:C176580 | MONDO:equivalentTo | Female Breast Carcinoma In Situ | | MONDO:0004658|MONDO:0004379 | -| MONDO:0855783 | functioning lung neuroendocrine tumor | NCIT:C176705 | MONDO:equivalentTo | Functioning Lung Neuroendocrine Tumor | | MONDO:0021120|MONDO:0006041 | -| MONDO:0855784 | non-functioning lung neuroendocrine tumor | NCIT:C176706 | MONDO:equivalentTo | Non-Functioning Lung Neuroendocrine Tumor | | MONDO:0021119|MONDO:0006041 | -| MONDO:0855809 | metastatic malignant thoracic neoplasm | NCIT:C176862 | MONDO:equivalentTo | Metastatic Malignant Thoracic Neoplasm | | MONDO:0024880|MONDO:0003274 | -| MONDO:0855811 | psammocarcinoma | NCIT:C176887 | MONDO:equivalentTo | Psammocarcinoma | | MONDO:0004970 | -| MONDO:0855859 | infantile myofibromatosis 1 | NCIT:C176943 | MONDO:equivalentTo | Infantile Myofibromatosis 1 | | MONDO:0016824 | -| MONDO:0855860 | infantile myofibromatosis 2 | NCIT:C176944 | MONDO:equivalentTo | Infantile Myofibromatosis 2 | | MONDO:0016824 | -| MONDO:0855861 | lipoma-like atypical lipomatous tumor/well differentiated liposarcoma | NCIT:C176979 | MONDO:equivalentTo | Lipoma-Like Atypical Lipomatous Tumor/Well Differentiated Liposarcoma | | MONDO:0006097 | -| MONDO:0855862 | superficial atypical lipomatous tumor/well differentiated liposarcoma | NCIT:C176980 | MONDO:equivalentTo | Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma | | MONDO:0006097 | -| MONDO:0855863 | atypical lipomatous tumor/well differentiated liposarcoma of deep soft tissue | NCIT:C176981 | MONDO:equivalentTo | Atypical Lipomatous Tumor/Well Differentiated Liposarcoma of Deep Soft Tissue | | MONDO:0006097 | -| MONDO:0855864 | myxoid pleomorphic liposarcoma | NCIT:C176989 | MONDO:equivalentTo | Myxoid Pleomorphic Liposarcoma | | MONDO:0005060 | -| MONDO:0855883 | plaque-like dermatofibrosarcoma protuberans | NCIT:C177325 | MONDO:equivalentTo | Plaque-Like Dermatofibrosarcoma Protuberans | | MONDO:0011934 | -| MONDO:0855884 | somatic-type malignancy | NCIT:C177364 | MONDO:equivalentTo | Somatic-Type Malignancy | | MONDO:0004992 | -| MONDO:0855885 | epithelioid myxofibrosarcoma | NCIT:C177414 | MONDO:equivalentTo | Epithelioid Myxofibrosarcoma | | MONDO:0019202 | -| MONDO:0855891 | bladder flat urothelial carcinoma | NCIT:C177531 | MONDO:equivalentTo | Bladder Flat Urothelial Carcinoma | | MONDO:0005611 | -| MONDO:0855897 | epithelioid hemangioendothelioma with wwtr1-camta1 gene fusion | NCIT:C177552 | MONDO:equivalentTo | Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion | | MONDO:0015523 | -| MONDO:0855898 | epithelioid hemangioendothelioma with yap1-tfe3 gene fusion | NCIT:C177553 | MONDO:equivalentTo | Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion | | MONDO:0015523 | -| MONDO:0855909 | who grade 1 glioma | NCIT:C177797 | MONDO:equivalentTo | WHO Grade 1 Glioma | | MONDO:0021637 | -| MONDO:0855911 | poorly differentiated chordoma | NCIT:C177898 | MONDO:equivalentTo | Poorly Differentiated Chordoma | | MONDO:0008978 | -| MONDO:0855914 | ebv-associated smooth muscle tumor | NCIT:C178217 | MONDO:equivalentTo | EBV-Associated Smooth Muscle Tumor | | MONDO:0006975 | -| MONDO:0855915 | pleomorphic leiomyosarcoma | NCIT:C178220 | MONDO:equivalentTo | Pleomorphic Leiomyosarcoma | | MONDO:0005058 | -| MONDO:0855916 | epithelioid schwannoma | NCIT:C178245 | MONDO:equivalentTo | Epithelioid Schwannoma | | MONDO:0002546 | -| MONDO:0855929 | round cell sarcoma with ewsr1-non-ets fusion | NCIT:C178459 | MONDO:equivalentTo | Round Cell Sarcoma with EWSR1-non-ETS Fusion | | MONDO:0006974 | -| MONDO:0855930 | sarcoma with bcor genetic alterations | NCIT:C178465 | MONDO:equivalentTo | Sarcoma with BCOR Genetic Alterations | | MONDO:0006974 | -| MONDO:0855935 | gastric melanoma | NCIT:C178519 | MONDO:equivalentTo | Gastric Melanoma | | MONDO:0001056|MONDO:0045070 | -| MONDO:0855938 | yolk sac tumor with somatic-type malignancy | NCIT:C178523 | MONDO:equivalentTo | Yolk Sac Tumor with Somatic-Type Malignancy | | MONDO:0005744 | -| MONDO:0855939 | conventional chordoma | NCIT:C178563 | MONDO:equivalentTo | Conventional Chordoma | | MONDO:0008978 | -| MONDO:0855941 | bone langerhans cell histiocytosis | NCIT:C178607 | MONDO:equivalentTo | Bone Langerhans Cell Histiocytosis | | MONDO:0019060|MONDO:0018310 | -| MONDO:0855942 | bone erdheim-chester disease | NCIT:C178609 | MONDO:equivalentTo | Bone Erdheim-Chester Disease | | MONDO:0019060|MONDO:0018153 | -| MONDO:0855961 | b-cell lymphoproliferative disorder | NCIT:C179052 | MONDO:equivalentTo | B-Cell Lymphoproliferative Disorder | | | -| MONDO:0855962 | t/nk-cell lymphoproliferative disorder | NCIT:C179053 | MONDO:equivalentTo | T/NK-Cell Lymphoproliferative Disorder | | | -| MONDO:0855976 | ovarian signet ring cell carcinoma | NCIT:C179208 | MONDO:equivalentTo | Ovarian Signet Ring Cell Carcinoma | | MONDO:0002752|MONDO:0005092 | -| MONDO:0855982 | myxoid glioneuronal tumor | NCIT:C179229 | MONDO:equivalentTo | Myxoid Glioneuronal Tumor | | MONDO:0016729 | -| MONDO:0855983 | borderline ovarian seromucinous tumor | NCIT:C179259 | MONDO:equivalentTo | Borderline Ovarian Seromucinous Tumor | | MONDO:0016093|MONDO:0003811 | -| MONDO:0855987 | mesonephric-like adenocarcinoma | NCIT:C179320 | MONDO:equivalentTo | Mesonephric-Like Adenocarcinoma | | MONDO:0001416|MONDO:0004970 | -| MONDO:0855990 | ovarian dedifferentiated carcinoma | NCIT:C179334 | MONDO:equivalentTo | Ovarian Dedifferentiated Carcinoma | | MONDO:0005140 | -| MONDO:0855991 | ovarian mixed cell adenocarcinoma | NCIT:C179339 | MONDO:equivalentTo | Ovarian Mixed Cell Adenocarcinoma | | MONDO:0002752 | -| MONDO:0855993 | giant cell-rich osteosarcoma | NCIT:C179410 | MONDO:equivalentTo | Giant Cell-Rich Osteosarcoma | | MONDO:0002631 | -| MONDO:0855995 | unresectable plexiform neurofibroma | NCIT:C179423 | MONDO:equivalentTo | Unresectable Plexiform Neurofibroma | | MONDO:0003304 | -| MONDO:0855999 | ovarian neuroectodermal-type tumor | NCIT:C179474 | MONDO:equivalentTo | Ovarian Neuroectodermal-Type Tumor | | MONDO:0008170 | -| MONDO:0856000 | ovarian wolffian tumor | NCIT:C179548 | MONDO:equivalentTo | Ovarian Wolffian Tumor | | MONDO:0002229|MONDO:0004255 | -| MONDO:0856002 | her2-low breast carcinoma | NCIT:C179553 | MONDO:equivalentTo | HER2-Low Breast Carcinoma | | MONDO:0004988 | -| MONDO:0856003 | peritoneal calcifying fibrous tumor | NCIT:C179560 | MONDO:equivalentTo | Peritoneal Calcifying Fibrous Tumor | | MONDO:0000650|MONDO:0006121 | -| MONDO:0856016 | basal ganglia neoplasm | NCIT:C179882 | MONDO:equivalentTo | Basal Ganglia Neoplasm | | MONDO:0021374 | -| MONDO:0856017 | cerebellar peduncle neoplasm | NCIT:C179883 | MONDO:equivalentTo | Cerebellar Peduncle Neoplasm | | MONDO:0002913 | -| MONDO:0856018 | corpus callosum neoplasm | NCIT:C179884 | MONDO:equivalentTo | Corpus Callosum Neoplasm | | MONDO:0021374 | -| MONDO:0856019 | oral cavity carcinoma cuniculatum | NCIT:C179894 | MONDO:equivalentTo | Oral Cavity Carcinoma Cuniculatum | | MONDO:0021538 | -| MONDO:0856021 | uterine ligament leiomyoma | NCIT:C179923 | MONDO:equivalentTo | Uterine Ligament Leiomyoma | | MONDO:0001572|MONDO:0020582 | -| MONDO:0856022 | uterine ligament adenomyoma | NCIT:C179925 | MONDO:equivalentTo | Uterine Ligament Adenomyoma | | MONDO:0005635|MONDO:0020582 | -| MONDO:0856024 | uterine ligament wolffian tumor | NCIT:C179927 | MONDO:equivalentTo | Uterine Ligament Wolffian Tumor | | MONDO:0004255|MONDO:0021629 | -| MONDO:0856025 | uterine ligament ependymoma | NCIT:C179928 | MONDO:equivalentTo | Uterine Ligament Ependymoma | | MONDO:0021629 | -| MONDO:0856026 | broad ligament neoplasm | NCIT:C179931 | MONDO:equivalentTo | Broad Ligament Neoplasm | | MONDO:0021629 | -| MONDO:0856027 | microsatellite stable ovarian carcinoma | NCIT:C180332 | MONDO:equivalentTo | Microsatellite Stable Ovarian Carcinoma | | MONDO:0005140 | -| MONDO:0856028 | microsatellite stable endometrial carcinoma | NCIT:C180335 | MONDO:equivalentTo | Microsatellite Stable Endometrial Carcinoma | | MONDO:0002447 | -| MONDO:0856030 | polymorphous low grade neuroepithelial tumor of the young | NCIT:C180378 | MONDO:equivalentTo | Polymorphous Low Grade Neuroepithelial Tumor of the Young | | MONDO:0016729|MONDO:0021632 | -| MONDO:0856033 | tectal glioma | NCIT:C180407 | MONDO:equivalentTo | Tectal Glioma | | MONDO:0021042 | -| MONDO:0856035 | pole-ultramutated endometrial endometrioid adenocarcinoma | NCIT:C180512 | MONDO:equivalentTo | POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma | | MONDO:0006192 | -| MONDO:0856036 | mismatch repair-deficient endometrial endometrioid adenocarcinoma | NCIT:C180514 | MONDO:equivalentTo | Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma | | MONDO:0006192 | -| MONDO:0856037 | p53-mutant endometrial endometrioid adenocarcinoma | NCIT:C180515 | MONDO:equivalentTo | p53-Mutant Endometrial Endometrioid Adenocarcinoma | | MONDO:0006192 | -| MONDO:0856038 | no specific molecular profile endometrial endometrioid adenocarcinoma | NCIT:C180516 | MONDO:equivalentTo | No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma | | MONDO:0006192 | -| MONDO:0856040 | dysembryoplastic neuroepithelial-like tumor of the septum pellucidum | NCIT:C180532 | MONDO:equivalentTo | Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum | | MONDO:0016729 | -| MONDO:0856041 | endometrial mucinous adenocarcinoma, intestinal-type | NCIT:C180536 | MONDO:equivalentTo | Endometrial Mucinous Adenocarcinoma, Intestinal-Type | | MONDO:0005461|MONDO:0006254 | -| MONDO:0856042 | endometrial mucinous adenocarcinoma, gastric-type | NCIT:C180537 | MONDO:equivalentTo | Endometrial Mucinous Adenocarcinoma, Gastric-Type | | MONDO:0005461 | -| MONDO:0856044 | uterine corpus central primitive neuroectodermal tumor | NCIT:C180546 | MONDO:equivalentTo | Uterine Corpus Central Primitive Neuroectodermal Tumor | | MONDO:0005210|MONDO:0006974 | -| MONDO:0856048 | urothelial carcinoma, high grade | NCIT:C180606 | MONDO:equivalentTo | Urothelial Carcinoma, High Grade | | MONDO:0040679 | -| MONDO:0856052 | gestational trophoblastic disorder | NCIT:C180633 | MONDO:equivalentTo | Gestational Trophoblastic Disorder | | | -| MONDO:0856053 | mixed trophoblastic tumor | NCIT:C180634 | MONDO:equivalentTo | Mixed Trophoblastic Tumor | | MONDO:0018944 | -| MONDO:0856054 | metastatic hydatidiform mole | NCIT:C180635 | MONDO:equivalentTo | Metastatic Hydatidiform Mole | | MONDO:0020549 | -| MONDO:0856055 | low grade papillary schneiderian carcinoma | NCIT:C180670 | MONDO:equivalentTo | Low Grade Papillary Schneiderian Carcinoma | | MONDO:0056819 | -| MONDO:0856057 | cervical squamous cell carcinoma, not otherwise specified | NCIT:C180839 | MONDO:equivalentTo | Cervical Squamous Cell Carcinoma, Not Otherwise Specified | | MONDO:0006143 | -| MONDO:0856060 | human papillomavirus-independent cervical adenocarcinoma | NCIT:C180848 | MONDO:equivalentTo | Human Papillomavirus-Independent Cervical Adenocarcinoma | | MONDO:0005153 | -| MONDO:0856067 | cervical adenocarcinoma, not otherwise specified | NCIT:C180870 | MONDO:equivalentTo | Cervical Adenocarcinoma, Not Otherwise Specified | | MONDO:0005153 | -| MONDO:0856070 | cervical mucoepidermoid carcinoma | NCIT:C180878 | MONDO:equivalentTo | Cervical Mucoepidermoid Carcinoma | | MONDO:0005131|MONDO:0003036 | -| MONDO:0856071 | cervical germ cell tumor | NCIT:C180879 | MONDO:equivalentTo | Cervical Germ Cell Tumor | | MONDO:0005040|MONDO:0021230 | -| MONDO:0856072 | minor salivary gland intraductal papillary neoplasm | NCIT:C180880 | MONDO:equivalentTo | Minor Salivary Gland Intraductal Papillary Neoplasm | | MONDO:0021370 | -| MONDO:0856074 | adult myofibroma | NCIT:C180888 | MONDO:equivalentTo | Adult Myofibroma | | MONDO:0006312 | -| MONDO:0856077 | human papillomavirus-related vaginal squamous cell carcinoma | NCIT:C180917 | MONDO:equivalentTo | Human Papillomavirus-Related Vaginal Squamous Cell Carcinoma | | MONDO:0020657|MONDO:0006490 | -| MONDO:0856083 | vaginal adenocarcinoma of skene gland origin | NCIT:C180947 | MONDO:equivalentTo | Vaginal Adenocarcinoma of Skene Gland Origin | | MONDO:0020653|MONDO:0004173 | -| MONDO:0856100 | hybrid salivary gland tumor | NCIT:C181078 | MONDO:equivalentTo | Hybrid Salivary Gland Tumor | | MONDO:0021043|MONDO:0021357 | -| MONDO:0856104 | eyelid basal cell carcinoma | NCIT:C181159 | MONDO:equivalentTo | Eyelid Basal Cell Carcinoma | | MONDO:0003876|MONDO:0005341 | -| MONDO:0856106 | major salivary gland squamous cell carcinoma | NCIT:C181161 | MONDO:equivalentTo | Major Salivary Gland Squamous Cell Carcinoma | | MONDO:0044740|MONDO:0006284 | -| MONDO:0856110 | lung rhabdomyosarcoma | NCIT:C181201 | MONDO:equivalentTo | Lung Rhabdomyosarcoma | | MONDO:0002426|MONDO:0005212 | -| MONDO:0856111 | lung hodgkin lymphoma | NCIT:C181205 | MONDO:equivalentTo | Lung Hodgkin Lymphoma | | MONDO:0004952|MONDO:0003987 | -| MONDO:0856112 | primary bone hodgkin lymphoma | NCIT:C181207 | MONDO:equivalentTo | Primary Bone Hodgkin Lymphoma | | MONDO:0004952|MONDO:0017814 | -| MONDO:0856114 | cervical cancer by ajcc v9 stage | NCIT:C181562 | MONDO:equivalentTo | Cervical Cancer by AJCC v9 Stage | | MONDO:0005131 | -| MONDO:0856117 | epiglottic squamous cell carcinoma | NCIT:C181714 | MONDO:equivalentTo | Epiglottic Squamous Cell Carcinoma | | MONDO:0004293|MONDO:0004473 | -| MONDO:0856124 | vulvar squamous cell carcinoma, not otherwise specified | NCIT:C181902 | MONDO:equivalentTo | Vulvar Squamous Cell Carcinoma, Not Otherwise Specified | | MONDO:0024609 | -| MONDO:0856128 | endometrial mucosa-associated lymphoid tissue lymphoma | NCIT:C181910 | MONDO:equivalentTo | Endometrial Mucosa-Associated Lymphoid Tissue Lymphoma | | MONDO:0007650|MONDO:0011962 | -| MONDO:0856134 | vulvar kaposi sarcoma | NCIT:C181938 | MONDO:equivalentTo | Vulvar Kaposi Sarcoma | | MONDO:0005055|MONDO:0005214 | -| MONDO:0856136 | vulvar rhabdomyosarcoma | NCIT:C181944 | MONDO:equivalentTo | Vulvar Rhabdomyosarcoma | | MONDO:0005214|MONDO:0005212 | -| MONDO:0856137 | vulvar epithelioid sarcoma | NCIT:C181971 | MONDO:equivalentTo | Vulvar Epithelioid Sarcoma | | MONDO:0005214|MONDO:0017387 | -| MONDO:0856139 | vulvar ewing sarcoma | NCIT:C181977 | MONDO:equivalentTo | Vulvar Ewing Sarcoma | | MONDO:0018270|MONDO:0005214 | -| MONDO:0856154 | bronchiolar adenoma/ciliated muconodular papillary tumor | NCIT:C183045 | MONDO:equivalentTo | Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor | | MONDO:0003422 | -| MONDO:0856155 | invasive lung non-mucinous adenocarcinoma | NCIT:C183109 | MONDO:equivalentTo | Invasive Lung Non-Mucinous Adenocarcinoma | | MONDO:0040677|MONDO:0005061 | -| MONDO:0856156 | thoracic smarca4-deficient undifferentiated tumor | NCIT:C183115 | MONDO:equivalentTo | Thoracic SMARCA4-Deficient Undifferentiated Tumor | | MONDO:0003274 | -| MONDO:0856158 | lung intravascular large b-cell lymphoma | NCIT:C183121 | MONDO:equivalentTo | Lung Intravascular Large B-Cell Lymphoma | | MONDO:0006387|MONDO:0020324 | -| MONDO:0856161 | pleural mesothelioma in situ | NCIT:C183134 | MONDO:equivalentTo | Pleural Mesothelioma In Situ | | MONDO:0003308 | -| MONDO:0856165 | cardiac diffuse large b-cell lymphoma | NCIT:C183146 | MONDO:equivalentTo | Cardiac Diffuse Large B-Cell Lymphoma | | MONDO:0018905|MONDO:0003917 | -| MONDO:0856172 | pleural calcifying fibrous tumor | NCIT:C183277 | MONDO:equivalentTo | Pleural Calcifying Fibrous Tumor | | MONDO:0006121|MONDO:0021457 | -| MONDO:0856178 | thymic carcinoma with adenoid cystic carcinoma-like features | NCIT:C183313 | MONDO:equivalentTo | Thymic Carcinoma with Adenoid Cystic Carcinoma-Like Features | | MONDO:0006451 | -| MONDO:0856179 | thymic enteric-type adenocarcinoma | NCIT:C183314 | MONDO:equivalentTo | Thymic Enteric-Type Adenocarcinoma | | MONDO:0003209|MONDO:0006254 | -| MONDO:0856180 | thymic adenocarcinoma, not otherwise specified | NCIT:C183315 | MONDO:equivalentTo | Thymic Adenocarcinoma, Not Otherwise Specified | | MONDO:0003209 | -| MONDO:0856181 | thymic carcinoma, not otherwise specified | NCIT:C183316 | MONDO:equivalentTo | Thymic Carcinoma, Not Otherwise Specified | | MONDO:0006451 | -| MONDO:0856182 | mediastinal follicular dendritic cell sarcoma | NCIT:C183374 | MONDO:equivalentTo | Mediastinal Follicular Dendritic Cell Sarcoma | | MONDO:0005764|MONDO:0005843 | -| MONDO:0856183 | metastatic malignant neoplasm in the mediastinal lymph nodes | NCIT:C183510 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Mediastinal Lymph Nodes | | MONDO:0005438 | -| MONDO:0856191 | salivary gland adenoma | NCIT:C184295 | MONDO:equivalentTo | Salivary Gland Adenoma | | MONDO:0021460|MONDO:0004972 | -| MONDO:0856197 | multiple solitary plasmacytoma of bone | NCIT:C185035 | MONDO:equivalentTo | Multiple Solitary Plasmacytoma of Bone | | MONDO:0002755 | -| MONDO:0856199 | splenic plasmacytoma | NCIT:C185041 | MONDO:equivalentTo | Splenic Plasmacytoma | | MONDO:0002754|MONDO:0005966 | -| MONDO:0856204 | extramedullary disease in multiple myeloma | NCIT:C185149 | MONDO:equivalentTo | Extramedullary Disease in Multiple Myeloma | | MONDO:0009693 | -| MONDO:0856206 | astrocytoma, idh-mutant | NCIT:C185167 | MONDO:equivalentTo | Astrocytoma, IDH-Mutant | | MONDO:0019781 | -| MONDO:0856207 | astrocytoma, idh-wildtype | NCIT:C185184 | MONDO:equivalentTo | Astrocytoma, IDH-Wildtype | | MONDO:0019781 | -| MONDO:0856208 | astrocytoma, not otherwise specified | NCIT:C185185 | MONDO:equivalentTo | Astrocytoma, Not Otherwise Specified | | MONDO:0019781 | -| MONDO:0856216 | extranodal lymphoma | NCIT:C185752 | MONDO:equivalentTo | Extranodal Lymphoma | | MONDO:0017207 | -| MONDO:0856218 | high grade astrocytoma with piloid features | NCIT:C185879 | MONDO:equivalentTo | High Grade Astrocytoma with Piloid Features | | MONDO:0016684 | -| MONDO:0856232 | spinal cord ependymoma, mycn amplified | NCIT:C186494 | MONDO:equivalentTo | Spinal Cord Ependymoma, MYCN Amplified | | MONDO:0002542|MONDO:0016698 | -| MONDO:0856233 | childhood spinal cord ependymoma | NCIT:C186495 | MONDO:equivalentTo | Childhood Spinal Cord Ependymoma | | MONDO:0002716|MONDO:0003478|MONDO:0003473 | -| MONDO:0856234 | central nervous system neuroblastoma, foxr2-activated | NCIT:C186547 | MONDO:equivalentTo | Central Nervous System Neuroblastoma, FOXR2-Activated | | MONDO:0002900 | -| MONDO:0856238 | primary intracranial sarcoma, dicer1-mutant | NCIT:C186610 | MONDO:equivalentTo | Primary Intracranial Sarcoma, DICER1-Mutant | | MONDO:0002216 | -| MONDO:0856239 | central nervous system ewing sarcoma | NCIT:C186611 | MONDO:equivalentTo | Central Nervous System Ewing Sarcoma | | MONDO:0018270|MONDO:0002217|MONDO:0016713 | -| MONDO:0856240 | intracranial mesenchymal tumor, fet-creb fusion-positive | NCIT:C186614 | MONDO:equivalentTo | Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive | | MONDO:0003244|MONDO:0021632 | -| MONDO:0856241 | cervical cancer by figo stage 2009 | NCIT:C186619 | MONDO:equivalentTo | Cervical Cancer by FIGO Stage 2009 | | MONDO:0005131 | -| MONDO:0856244 | central nervous system lymphomatoid granulomatosis | NCIT:C186662 | MONDO:equivalentTo | Central Nervous System Lymphomatoid Granulomatosis | | MONDO:0019466|MONDO:0003641 | -| MONDO:0856246 | smarcb1 schwannomatosis 1 | NCIT:C186703 | MONDO:equivalentTo | SMARCB1 Schwannomatosis 1 | | MONDO:0008075 | -| MONDO:0856247 | lztr1 schwannomatosis 2 | NCIT:C186704 | MONDO:equivalentTo | LZTR1 Schwannomatosis 2 | | MONDO:0008075 | -| MONDO:0856253 | childhood acute leukemia | NCIT:C187056 | MONDO:equivalentTo | Childhood Acute Leukemia | | MONDO:0010643|MONDO:0004355 | -| MONDO:0856254 | pituitary neuroendocrine tumor of pit1-lineage | NCIT:C187086 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor of PIT1-Lineage | | MONDO:0006373 | -| MONDO:0856255 | pituitary neuroendocrine tumor of tpit-lineage | NCIT:C187087 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor of TPIT-Lineage | | MONDO:0006373 | -| MONDO:0856256 | pituitary neuroendocrine tumor of sf1-lineage | NCIT:C187088 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor of SF1-Lineage | | MONDO:0006373 | -| MONDO:0856257 | pituitary neuroendocrine tumor without distinct lineage differentiation | NCIT:C187096 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation | | MONDO:0006373 | -| MONDO:0856258 | pituitary neuroendocrine tumor, not otherwise specified | NCIT:C187135 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor, Not Otherwise Specified | | MONDO:0006373 | -| MONDO:0856267 | thyroid gland follicular adenoma with papillary architecture | NCIT:C187261 | MONDO:equivalentTo | Thyroid Gland Follicular Adenoma with Papillary Architecture | | MONDO:0005032 | -| MONDO:0856268 | low risk thyroid gland neoplasm | NCIT:C187273 | MONDO:equivalentTo | Low Risk Thyroid Gland Neoplasm | | MONDO:0015074 | -| MONDO:0856272 | invasive breast lobular carcinoma with extracellular mucin | NCIT:C187405 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma with Extracellular Mucin | | MONDO:0005051 | -| MONDO:0856275 | thyroid gland follicular carcinoma, signet ring cell variant | NCIT:C187643 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Signet Ring Cell Variant | | MONDO:0005034 | -| MONDO:0856276 | classic thyroid gland papillary carcinoma | NCIT:C187644 | MONDO:equivalentTo | Classic Thyroid Gland Papillary Carcinoma | | MONDO:0005075 | -| MONDO:0856277 | high grade follicular cell-derived non-anaplastic thyroid gland carcinoma | NCIT:C187645 | MONDO:equivalentTo | High Grade Follicular Cell-Derived Non-Anaplastic Thyroid Gland Carcinoma | | MONDO:0024622 | -| MONDO:0856285 | thyroid gland secretory carcinoma | NCIT:C187994 | MONDO:equivalentTo | Thyroid Gland Secretory Carcinoma | | MONDO:0024622 | -| MONDO:0856286 | thyroblastoma | NCIT:C187995 | MONDO:equivalentTo | Thyroblastoma | | MONDO:0002108|MONDO:0005564 | -| MONDO:0856287 | teratoma with endocrine differentiation | NCIT:C188013 | MONDO:equivalentTo | Teratoma with Endocrine Differentiation | | MONDO:0002601 | -| MONDO:0856289 | b-cell malignant neoplasm | NCIT:C188021 | MONDO:equivalentTo | B-Cell Malignant Neoplasm | | MONDO:0004992|MONDO:0004095 | -| MONDO:0856293 | mast cell leukemia with an associated myeloid neoplasm | NCIT:C188031 | MONDO:equivalentTo | Mast Cell Leukemia with an Associated Myeloid Neoplasm | | MONDO:0020332|MONDO:0020334 | -| MONDO:0856298 | refractory wilms tumor | NCIT:C188038 | MONDO:equivalentTo | Refractory Wilms Tumor | | MONDO:0006058|MONDO:0036501 | -| MONDO:0856302 | pleural proximal-type epithelioid sarcoma | NCIT:C188055 | MONDO:equivalentTo | Pleural Proximal-Type Epithelioid Sarcoma | | MONDO:0006294|MONDO:0004244 | -| MONDO:0856303 | lung osteosarcoma | NCIT:C188061 | MONDO:equivalentTo | Lung Osteosarcoma | | MONDO:0002621|MONDO:0002426 | -| MONDO:0856304 | pleural leiomyosarcoma | NCIT:C188063 | MONDO:equivalentTo | Pleural Leiomyosarcoma | | MONDO:0006294|MONDO:0005058 | -| MONDO:0856305 | bone malignant peripheral nerve sheath tumor | NCIT:C188064 | MONDO:equivalentTo | Bone Malignant Peripheral Nerve Sheath Tumor | | MONDO:0021054|MONDO:0017827 | -| MONDO:0856308 | lung secretory carcinoma | NCIT:C188068 | MONDO:equivalentTo | Lung Secretory Carcinoma | | MONDO:0005138 | -| MONDO:0856309 | prostate alveolar rhabdomyosarcoma | NCIT:C188070 | MONDO:equivalentTo | Prostate Alveolar Rhabdomyosarcoma | | MONDO:0006389|MONDO:0009994 | -| MONDO:0856310 | retroperitoneal rhabdomyosarcoma | NCIT:C188071 | MONDO:equivalentTo | Retroperitoneal Rhabdomyosarcoma | | MONDO:0001501|MONDO:0005212 | -| MONDO:0856312 | retroperitoneal malignant peripheral nerve sheath tumor | NCIT:C188073 | MONDO:equivalentTo | Retroperitoneal Malignant Peripheral Nerve Sheath Tumor | | MONDO:0001501|MONDO:0017827 | -| MONDO:0856313 | rectal epithelioid cell melanoma | NCIT:C188079 | MONDO:equivalentTo | Rectal Epithelioid Cell Melanoma | | MONDO:0002167|MONDO:0002973 | -| MONDO:0856316 | lung anaplastic large cell lymphoma | NCIT:C188082 | MONDO:equivalentTo | Lung Anaplastic Large Cell Lymphoma | | MONDO:0020644|MONDO:0020325 | -| MONDO:0856325 | adrenal cortical myxoid carcinoma | NCIT:C188182 | MONDO:equivalentTo | Adrenal Cortical Myxoid Carcinoma | | MONDO:0006639 | -| MONDO:0856326 | adrenal cortical high grade carcinoma | NCIT:C188183 | MONDO:equivalentTo | Adrenal Cortical High Grade Carcinoma | | MONDO:0006639 | -| MONDO:0856327 | adrenal cortical melanoma | NCIT:C188185 | MONDO:equivalentTo | Adrenal Cortical Melanoma | | MONDO:0021312|MONDO:0006320 | -| MONDO:0856335 | neuroendocrine tumor | NCIT:C188218 | MONDO:equivalentTo | Neuroendocrine Tumor | | MONDO:0019496 | -| MONDO:0856336 | head and neck neuroendocrine neoplasm | NCIT:C188222 | MONDO:equivalentTo | Head and Neck Neuroendocrine Neoplasm | | MONDO:0019496|MONDO:0005586 | -| MONDO:0856338 | adrenal gland lipoma | NCIT:C188250 | MONDO:equivalentTo | Adrenal Gland Lipoma | | MONDO:0021511|MONDO:0005106 | -| MONDO:0856339 | adrenal gland hemangioma | NCIT:C188251 | MONDO:equivalentTo | Adrenal Gland Hemangioma | | MONDO:0021511|MONDO:0006500 | -| MONDO:0856340 | adrenal gland lymphangioma | NCIT:C188252 | MONDO:equivalentTo | Adrenal Gland Lymphangioma | | MONDO:0002013|MONDO:0021511 | -| MONDO:0856341 | adrenal gland leiomyoma | NCIT:C188253 | MONDO:equivalentTo | Adrenal Gland Leiomyoma | | MONDO:0021511|MONDO:0001572 | -| MONDO:0856343 | multiple endocrine neoplasia type 5 | NCIT:C188257 | MONDO:equivalentTo | Multiple Endocrine Neoplasia Type 5 | | MONDO:0017169 | -| MONDO:0856349 | chronic phase primary myelofibrosis | NCIT:C188314 | MONDO:equivalentTo | Chronic Phase Primary Myelofibrosis | | MONDO:0009692 | -| MONDO:0856350 | accelerated phase myeloproliferative neoplasm | NCIT:C188315 | MONDO:equivalentTo | Accelerated Phase Myeloproliferative Neoplasm | | MONDO:0020076 | -| MONDO:0856351 | blast phase myeloproliferative neoplasm | NCIT:C188316 | MONDO:equivalentTo | Blast Phase Myeloproliferative Neoplasm | | MONDO:0020076 | -| MONDO:0856357 | intraductal hyperplasia | NCIT:C26458 | MONDO:equivalentTo | Intraductal Hyperplasia | | | -| MONDO:0856375 | reticulosarcoma involving spleen | NCIT:C26959 | MONDO:equivalentTo | Reticulosarcoma Involving Spleen | | MONDO:0009975 | -| MONDO:0856376 | lymphosarcoma involving spleen | NCIT:C26960 | MONDO:equivalentTo | Lymphosarcoma Involving Spleen | | MONDO:0004638 | -| MONDO:0856398 | nonpigmented nevus | NCIT:C27095 | MONDO:equivalentTo | Nonpigmented Nevus | | MONDO:0044794 | -| MONDO:0856421 | transplant-related disorder | NCIT:C27233 | MONDO:equivalentTo | Transplant-Related Disorder | | | -| MONDO:0856422 | familial adenomatous polyposis associated medulloblastoma | NCIT:C27237 | MONDO:equivalentTo | Familial Adenomatous Polyposis Associated Medulloblastoma | | MONDO:0007959 | -| MONDO:0856423 | lymphoma by stage | NCIT:C27268 | MONDO:equivalentTo | Lymphoma by Stage | | MONDO:0005062 | -| MONDO:0856424 | glandular cell intraepithelial neoplasia | NCIT:C27269 | MONDO:equivalentTo | Glandular Cell Intraepithelial Neoplasia | | MONDO:0024474|MONDO:0024276 | -| MONDO:0856425 | secondary myelodysplastic syndrome | NCIT:C27280 | MONDO:equivalentTo | Secondary Myelodysplastic Syndrome | | MONDO:0024881|MONDO:0018881 | -| MONDO:0856428 | metastatic ewing sarcoma/peripheral primitive neuroectodermal tumor | NCIT:C27292 | MONDO:equivalentTo | Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | | MONDO:0024880|MONDO:0021038 | -| MONDO:0856443 | unresectable malignant neoplasm | NCIT:C27359 | MONDO:equivalentTo | Unresectable Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0856447 | mucin-producing adenocarcinoma | NCIT:C27379 | MONDO:equivalentTo | Mucin-Producing Adenocarcinoma | | MONDO:0020596|MONDO:0004970 | -| MONDO:0856451 | extraosseous/peripheral ameloblastoma | NCIT:C27396 | MONDO:equivalentTo | Extraosseous/Peripheral Ameloblastoma | | MONDO:0017795 | -| MONDO:0856452 | ampulla of vater intestinal-type adenocarcinoma | NCIT:C27415 | MONDO:equivalentTo | Ampulla of Vater Intestinal-Type Adenocarcinoma | | MONDO:0002670|MONDO:0006254 | -| MONDO:0856453 | ampulla of vater undifferentiated carcinoma | NCIT:C27419 | MONDO:equivalentTo | Ampulla of Vater Undifferentiated Carcinoma | | MONDO:0017590|MONDO:0005617 | -| MONDO:0856456 | small intestinal gastrin-producing neuroendocrine tumor | NCIT:C27450 | MONDO:equivalentTo | Small Intestinal Gastrin-Producing Neuroendocrine Tumor | | MONDO:0002995|MONDO:0003523 | -| MONDO:0856457 | small intestinal enterochromaffin cell serotonin-producing neuroendocrine tumor | NCIT:C27451 | MONDO:equivalentTo | Small Intestinal Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor | | MONDO:0002995 | -| MONDO:0856458 | small intestinal somatostatin-producing neuroendocrine tumor | NCIT:C27453 | MONDO:equivalentTo | Small Intestinal Somatostatin-Producing Neuroendocrine Tumor | | MONDO:0002995|MONDO:0006976 | -| MONDO:0856460 | colorectal adenoma with moderate dysplasia | NCIT:C27457 | MONDO:equivalentTo | Colorectal Adenoma with Moderate Dysplasia | | MONDO:0005484 | -| MONDO:0856461 | colorectal adenoma with mild dysplasia | NCIT:C27458 | MONDO:equivalentTo | Colorectal Adenoma with Mild Dysplasia | | MONDO:0005484 | -| MONDO:0856463 | disseminated malignant neoplasm | NCIT:C27470 | MONDO:equivalentTo | Disseminated Malignant Neoplasm | | MONDO:0024880 | -| MONDO:0856464 | bone lipoma | NCIT:C27475 | MONDO:equivalentTo | Bone Lipoma | | MONDO:0000631|MONDO:0005106 | -| MONDO:0856465 | bone schwannoma | NCIT:C27476 | MONDO:equivalentTo | Bone Schwannoma | | MONDO:0000631|MONDO:0004820 | -| MONDO:0856468 | secondary chondrosarcoma | NCIT:C27482 | MONDO:equivalentTo | Secondary Chondrosarcoma | | MONDO:0021054|MONDO:0024881|MONDO:0008977 | -| MONDO:0856469 | conventional alveolar rhabdomyosarcoma | NCIT:C27492 | MONDO:equivalentTo | Conventional Alveolar Rhabdomyosarcoma | | MONDO:0009994 | -| MONDO:0856470 | solid alveolar rhabdomyosarcoma | NCIT:C27493 | MONDO:equivalentTo | Solid Alveolar Rhabdomyosarcoma | | MONDO:0009994 | -| MONDO:0856471 | lymphadenopathic kaposi sarcoma | NCIT:C27500 | MONDO:equivalentTo | Lymphadenopathic Kaposi Sarcoma | | MONDO:0001082|MONDO:0005055 | -| MONDO:0856472 | conventional extraskeletal myxoid chondrosarcoma | NCIT:C27501 | MONDO:equivalentTo | Conventional Extraskeletal Myxoid Chondrosarcoma | | MONDO:0012825 | -| MONDO:0856473 | intra-abdominal lymphangioma | NCIT:C27508 | MONDO:equivalentTo | Intra-Abdominal Lymphangioma | | MONDO:0002013 | -| MONDO:0856474 | angiosarcoma associated with lymphedema | NCIT:C27512 | MONDO:equivalentTo | Angiosarcoma Associated with Lymphedema | | MONDO:0016982 | -| MONDO:0856475 | desmoplastic fibroblastoma | NCIT:C27515 | MONDO:equivalentTo | Desmoplastic Fibroblastoma | | MONDO:0005167 | -| MONDO:0856477 | columnar trichoblastoma | NCIT:C27524 | MONDO:equivalentTo | Columnar Trichoblastoma | | MONDO:0020593 | -| MONDO:0856478 | tubular apocrine adenoma | NCIT:C27527 | MONDO:equivalentTo | Tubular Apocrine Adenoma | | MONDO:0002804 | -| MONDO:0856479 | primary cutaneous mucinous carcinoma | NCIT:C27533 | MONDO:equivalentTo | Primary Cutaneous Mucinous Carcinoma | | MONDO:0005524|MONDO:0004957 | -| MONDO:0856501 | oral cavity disorder | NCIT:C27641 | MONDO:equivalentTo | Oral Cavity Disorder | | | -| MONDO:0856504 | sinonasal disorder | NCIT:C27647 | MONDO:equivalentTo | Sinonasal Disorder | | | -| MONDO:0856509 | human papillomavirus-related verrucous carcinoma | NCIT:C27678 | MONDO:equivalentTo | Human Papillomavirus-Related Verrucous Carcinoma | | MONDO:0006006|MONDO:0020657 | -| MONDO:0856510 | human papillomavirus-related vulvar squamous cell carcinoma | NCIT:C27679 | MONDO:equivalentTo | Human Papillomavirus-Related Vulvar Squamous Cell Carcinoma | | MONDO:0024609|MONDO:0020657 | -| MONDO:0856511 | human papillomavirus-related esophageal squamous cell carcinoma | NCIT:C27680 | MONDO:equivalentTo | Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma | | MONDO:0005580|MONDO:0020657 | -| MONDO:0856512 | human papillomavirus-related anal squamous cell carcinoma | NCIT:C27681 | MONDO:equivalentTo | Human Papillomavirus-Related Anal Squamous Cell Carcinoma | | MONDO:0006082|MONDO:0020657 | -| MONDO:0856518 | ebv-related post-transplant lymphoproliferative disorder | NCIT:C27696 | MONDO:equivalentTo | EBV-Related Post-Transplant Lymphoproliferative Disorder | | | -| MONDO:0856523 | extragastrointestinal gastrointestinal stromal tumor | NCIT:C27716 | MONDO:equivalentTo | Extragastrointestinal Gastrointestinal Stromal Tumor | | MONDO:0011719 | -| MONDO:0856526 | myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia | NCIT:C27726 | MONDO:equivalentTo | Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia | | MONDO:0019157 | -| MONDO:0856529 | typical acute promyelocytic leukemia | NCIT:C27756 | MONDO:equivalentTo | Typical Acute Promyelocytic Leukemia | | MONDO:0012883 | -| MONDO:0856530 | microgranular acute promyelocytic leukemia | NCIT:C27757 | MONDO:equivalentTo | Microgranular Acute Promyelocytic Leukemia | | MONDO:0012883 | -| MONDO:0856539 | myelodysplastic/myeloproliferative neoplasm, not otherwise specified | NCIT:C27780 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm, Not Otherwise Specified | | MONDO:0006311 | -| MONDO:0856541 | spindle cell type gastrointestinal stromal tumor | NCIT:C27792 | MONDO:equivalentTo | Spindle Cell Type Gastrointestinal Stromal Tumor | | MONDO:0011719 | -| MONDO:0856542 | mixed cell type gastrointestinal stromal tumor | NCIT:C27793 | MONDO:equivalentTo | Mixed Cell Type Gastrointestinal Stromal Tumor | | MONDO:0011719 | -| MONDO:0856545 | nodular sclerosis classic hodgkin lymphoma, syncytial variant | NCIT:C27807 | MONDO:equivalentTo | Nodular Sclerosis Classic Hodgkin Lymphoma, Syncytial Variant | | MONDO:0004665 | -| MONDO:0856546 | pigmented nevus | NCIT:C27816 | MONDO:equivalentTo | Pigmented Nevus | | MONDO:0044794 | -| MONDO:0856549 | invasive breast carcinoma by histologic grade | NCIT:C27829 | MONDO:equivalentTo | Invasive Breast Carcinoma by Histologic Grade | | MONDO:0006256 | -| MONDO:0856551 | endometrial endometrioid adenocarcinoma with clear cell change | NCIT:C27843 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma with Clear Cell Change | | MONDO:0006192|MONDO:0005004 | -| MONDO:0856552 | endometrial endometrioid adenocarcinoma with a poorly differentiated carcinomatous component | NCIT:C27844 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma with a Poorly Differentiated Carcinomatous Component | | MONDO:0006192 | -| MONDO:0856553 | endometrial endometrioid adenocarcinoma with an undifferentiated carcinomatous component | NCIT:C27845 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma with an Undifferentiated Carcinomatous Component | | MONDO:0006192 | -| MONDO:0856554 | endometrial endometrioid adenocarcinoma, ciliated variant | NCIT:C27848 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma, Ciliated Variant | | MONDO:0006192 | -| MONDO:0856567 | transitional cell intraepithelial neoplasia | NCIT:C27881 | MONDO:equivalentTo | Transitional Cell Intraepithelial Neoplasia | | MONDO:0024474|MONDO:0037254 | -| MONDO:0856569 | type 1 papillary renal cell carcinoma | NCIT:C27886 | MONDO:equivalentTo | Type 1 Papillary Renal Cell Carcinoma | | MONDO:0017884 | -| MONDO:0856570 | type 2 papillary renal cell carcinoma | NCIT:C27887 | MONDO:equivalentTo | Type 2 Papillary Renal Cell Carcinoma | | MONDO:0017884 | -| MONDO:0856571 | sporadic papillary renal cell carcinoma | NCIT:C27890 | MONDO:equivalentTo | Sporadic Papillary Renal Cell Carcinoma | | MONDO:0017884 | -| MONDO:0856577 | well differentiated prostate adenocarcinoma | NCIT:C27905 | MONDO:equivalentTo | Well Differentiated Prostate Adenocarcinoma | | MONDO:0005082 | -| MONDO:0856578 | moderately differentiated prostate adenocarcinoma | NCIT:C27906 | MONDO:equivalentTo | Moderately Differentiated Prostate Adenocarcinoma | | MONDO:0005082 | -| MONDO:0856579 | alkylating agent-related acute myeloid leukemia and myelodysplastic syndrome | NCIT:C27913 | MONDO:equivalentTo | Alkylating Agent-Related Acute Myeloid Leukemia and Myelodysplastic Syndrome | | MONDO:0006450 | -| MONDO:0856580 | sporadic burkitt lymphoma | NCIT:C27914 | MONDO:equivalentTo | Sporadic Burkitt Lymphoma | | MONDO:0007243 | -| MONDO:0856582 | poorly differentiated prostate adenocarcinoma | NCIT:C27916 | MONDO:equivalentTo | Poorly Differentiated Prostate Adenocarcinoma | | MONDO:0005082 | -| MONDO:0856592 | metaplastic carcinoma | NCIT:C27949 | MONDO:equivalentTo | Metaplastic Carcinoma | | MONDO:0004993 | -| MONDO:0856593 | squamous cell carcinoma in situ of the nipple | NCIT:C28292 | MONDO:equivalentTo | Squamous Cell Carcinoma In Situ of the Nipple | | MONDO:0003950|MONDO:0004693 | -| MONDO:0856599 | biliary system disorder | NCIT:C2899 | MONDO:equivalentTo | Biliary System Disorder | | | -| MONDO:0856602 | enchondroma | NCIT:C3007 | MONDO:equivalentTo | Enchondroma | | MONDO:0002360|MONDO:0000631 | -| MONDO:0856604 | pancreatic glucagon-producing neuroendocrine tumor | NCIT:C3062 | MONDO:equivalentTo | Pancreatic Glucagon-Producing Neuroendocrine Tumor | | MONDO:0019954 | -| MONDO:0856606 | chronic phase chronic myeloid leukemia, bcr-abl1 positive | NCIT:C3175 | MONDO:equivalentTo | Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive | | MONDO:0001014|MONDO:0011996 | -| MONDO:0856607 | myeloid leukemia, philadelphia-negative | NCIT:C3176 | MONDO:equivalentTo | Myeloid Leukemia, Philadelphia-Negative | | MONDO:0004643 | -| MONDO:0856608 | neoplasm by site | NCIT:C3263 | MONDO:equivalentTo | Neoplasm by Site | | MONDO:0005070 | -| MONDO:0856610 | osteochondroma | NCIT:C3295 | MONDO:equivalentTo | Osteochondroma | | MONDO:0000631|MONDO:0024470 | -| MONDO:0856611 | extra-adrenal paraganglioma | NCIT:C3309 | MONDO:equivalentTo | Extra-Adrenal Paraganglioma | | MONDO:0000448 | -| MONDO:0856614 | supratentorial neoplasm | NCIT:C3397 | MONDO:equivalentTo | Supratentorial Neoplasm | | MONDO:0021211 | -| MONDO:0856615 | thyroid gland nodule | NCIT:C3415 | MONDO:equivalentTo | Thyroid Gland Nodule | | | -| MONDO:0856638 | grade 3 follicular lymphoma | NCIT:C3460 | MONDO:equivalentTo | Grade 3 Follicular Lymphoma | | MONDO:0018906|MONDO:0017595 | -| MONDO:0856655 | lobular capillary hemangioma | NCIT:C3480 | MONDO:equivalentTo | Lobular Capillary Hemangioma | | MONDO:0002407 | -| MONDO:0856661 | epithelioid cell type gastrointestinal stromal tumor | NCIT:C3486 | MONDO:equivalentTo | Epithelioid Cell Type Gastrointestinal Stromal Tumor | | MONDO:0011719 | -| MONDO:0856691 | uterine corpus degenerated leiomyoma | NCIT:C3511 | MONDO:equivalentTo | Uterine Corpus Degenerated Leiomyoma | | MONDO:0007886 | -| MONDO:0856703 | eyelid vascular disorder | NCIT:C35198 | MONDO:equivalentTo | Eyelid Vascular Disorder | | | -| MONDO:0856706 | placental polyp | NCIT:C3521 | MONDO:equivalentTo | Placental Polyp | | MONDO:0021498|MONDO:0005079 | -| MONDO:0856715 | chondromatosis | NCIT:C35259 | MONDO:equivalentTo | Chondromatosis | | MONDO:0024470 | -| MONDO:0856716 | malignant submandibular gland neoplasm | NCIT:C3526 | MONDO:equivalentTo | Malignant Submandibular Gland Neoplasm | | MONDO:0021244|MONDO:0044743 | -| MONDO:0856723 | malignant palate neoplasm | NCIT:C3530 | MONDO:equivalentTo | Malignant Palate Neoplasm | | MONDO:0005515|MONDO:0005286 | -| MONDO:0856758 | malignant neoplasm of multiple primary sites | NCIT:C35427 | MONDO:equivalentTo | Malignant Neoplasm of Multiple Primary Sites | | MONDO:0004992 | -| MONDO:0856764 | behavioral disorder | NCIT:C35470 | MONDO:equivalentTo | Behavioral Disorder | | | -| MONDO:0856772 | lung kaposi sarcoma | NCIT:C3551 | MONDO:equivalentTo | Lung Kaposi Sarcoma | | MONDO:0002426|MONDO:0005055 | -| MONDO:0856784 | malignant exocervical neoplasm | NCIT:C3554 | MONDO:equivalentTo | Malignant Exocervical Neoplasm | | MONDO:0002974 | -| MONDO:0856786 | malignant uterine corpus neoplasm | NCIT:C3556 | MONDO:equivalentTo | Malignant Uterine Corpus Neoplasm | | MONDO:0021254|MONDO:0002715 | -| MONDO:0856787 | complex endometrial hyperplasia with atypia | NCIT:C35560 | MONDO:equivalentTo | Complex Endometrial Hyperplasia with Atypia | | MONDO:0006169 | -| MONDO:0856810 | mixed tumor of the salivary gland | NCIT:C35691 | MONDO:equivalentTo | Mixed Tumor of the Salivary Gland | | MONDO:0021043|MONDO:0021357 | -| MONDO:0856811 | posterior pharyngeal wall carcinoma | NCIT:C35692 | MONDO:equivalentTo | Posterior Pharyngeal Wall Carcinoma | | MONDO:0021345 | -| MONDO:0856812 | benign uvula neoplasm | NCIT:C35698 | MONDO:equivalentTo | Benign Uvula Neoplasm | | MONDO:0021480 | -| MONDO:0856814 | testicular teratoma with somatic-type malignancy | NCIT:C35711 | MONDO:equivalentTo | Testicular Teratoma with Somatic-Type Malignancy | | MONDO:0003403|MONDO:0006444|MONDO:0018193 | -| MONDO:0856818 | salivary gland lymphoepithelial carcinoma | NCIT:C35736 | MONDO:equivalentTo | Salivary Gland Lymphoepithelial Carcinoma | | MONDO:0000521|MONDO:0003572 | -| MONDO:0856830 | metastatic malignant neoplasm in the bone | NCIT:C3580 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Bone | | MONDO:0002129|MONDO:0024880 | -| MONDO:0856835 | monoblastic sarcoma | NCIT:C35816 | MONDO:equivalentTo | Monoblastic Sarcoma | | MONDO:0006861 | -| MONDO:0856836 | blastic granulocytic sarcoma | NCIT:C35817 | MONDO:equivalentTo | Blastic Granulocytic Sarcoma | | MONDO:0006237 | -| MONDO:0856837 | immature granulocytic sarcoma | NCIT:C35818 | MONDO:equivalentTo | Immature Granulocytic Sarcoma | | MONDO:0006237 | -| MONDO:0856838 | differentiated granulocytic sarcoma | NCIT:C35819 | MONDO:equivalentTo | Differentiated Granulocytic Sarcoma | | MONDO:0006237 | -| MONDO:0856840 | salivary gland cystadenoma | NCIT:C35833 | MONDO:equivalentTo | Salivary Gland Cystadenoma | | MONDO:0021460|MONDO:0036976|MONDO:0002369 | -| MONDO:0856844 | salivary gland ductal papilloma | NCIT:C35839 | MONDO:equivalentTo | Salivary Gland Ductal Papilloma | | MONDO:0002363|MONDO:0021460 | -| MONDO:0856847 | grade 1 clear cell renal cell carcinoma | NCIT:C35851 | MONDO:equivalentTo | Grade 1 Clear Cell Renal Cell Carcinoma | | MONDO:0005005 | -| MONDO:0856848 | grade 2 clear cell renal cell carcinoma | NCIT:C35852 | MONDO:equivalentTo | Grade 2 Clear Cell Renal Cell Carcinoma | | MONDO:0005005 | -| MONDO:0856849 | grade 3 clear cell renal cell carcinoma | NCIT:C35853 | MONDO:equivalentTo | Grade 3 Clear Cell Renal Cell Carcinoma | | MONDO:0005005 | -| MONDO:0856850 | grade 4 clear cell renal cell carcinoma | NCIT:C35854 | MONDO:equivalentTo | Grade 4 Clear Cell Renal Cell Carcinoma | | MONDO:0005005 | -| MONDO:0856855 | endemic african kaposi sarcoma | NCIT:C35874 | MONDO:equivalentTo | Endemic African Kaposi Sarcoma | | MONDO:0005055 | -| MONDO:0856856 | distantly metastatic malignant neoplasm | NCIT:C35933 | MONDO:equivalentTo | Distantly Metastatic Malignant Neoplasm | | MONDO:0024880 | -| MONDO:0856857 | malignant neoplasm by grade | NCIT:C36041 | MONDO:equivalentTo | Malignant Neoplasm by Grade | | MONDO:0004992 | -| MONDO:0856858 | moderately differentiated malignant neoplasm | NCIT:C36049 | MONDO:equivalentTo | Moderately Differentiated Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0856859 | poorly differentiated malignant neoplasm | NCIT:C36050 | MONDO:equivalentTo | Poorly Differentiated Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0856860 | undifferentiated malignant neoplasm | NCIT:C36051 | MONDO:equivalentTo | Undifferentiated Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0856861 | well differentiated malignant neoplasm | NCIT:C36052 | MONDO:equivalentTo | Well Differentiated Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0856862 | acute myeloid leukemia with t(11;17)(q23;q21); zbtb16-rara | NCIT:C36056 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(11;17)(q23;q21); ZBTB16-RARA | | MONDO:0100375 | -| MONDO:0856863 | acute myeloid leukemia with t(5;17)(q35;q21); npm1-rara | NCIT:C36057 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(5;17)(q35;q21); NPM1-RARA | | MONDO:0100375 | -| MONDO:0856864 | acute myeloid leukemia with t(11;17)(q13;q21); numa1-rara | NCIT:C36058 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(11;17)(q13;q21); NUMA1-RARA | | MONDO:0100375 | -| MONDO:0856865 | chronic myelomonocytic leukemia with eosinophilia | NCIT:C36060 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia with Eosinophilia | | MONDO:0020311 | -| MONDO:0856866 | chronic myelomonocytic leukemia-1 | NCIT:C36061 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia-1 | | MONDO:0020311 | -| MONDO:0856867 | chronic myelomonocytic leukemia-2 | NCIT:C36062 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia-2 | | MONDO:0020311 | -| MONDO:0856875 | hereditary male breast carcinoma | NCIT:C36106 | MONDO:equivalentTo | Hereditary Male Breast Carcinoma | | MONDO:0016419|MONDO:0005628 | -| MONDO:0856876 | hereditary female breast carcinoma | NCIT:C36107 | MONDO:equivalentTo | Hereditary Female Breast Carcinoma | | MONDO:0016419|MONDO:0004379 | -| MONDO:0856880 | non-hereditary clear cell renal cell carcinoma | NCIT:C36261 | MONDO:equivalentTo | Non-Hereditary Clear Cell Renal Cell Carcinoma | | MONDO:0005005 | -| MONDO:0856882 | metastatic benign neoplasm | NCIT:C36264 | MONDO:equivalentTo | Metastatic Benign Neoplasm | | MONDO:0005165|MONDO:0024883 | -| MONDO:0856883 | lymphomatous adult t-cell leukemia/lymphoma | NCIT:C36266 | MONDO:equivalentTo | Lymphomatous Adult T-Cell Leukemia/Lymphoma | | MONDO:0019471 | -| MONDO:0856884 | hodgkin-like adult t-cell leukemia/lymphoma | NCIT:C36268 | MONDO:equivalentTo | Hodgkin-Like Adult T-Cell Leukemia/Lymphoma | | MONDO:0019471 | -| MONDO:0856885 | t-cell prolymphocytic leukemia, small cell variant | NCIT:C36270 | MONDO:equivalentTo | T-Cell Prolymphocytic Leukemia, Small Cell Variant | | MONDO:0019468 | -| MONDO:0856886 | t-cell prolymphocytic leukemia, cerebriform cell variant | NCIT:C36271 | MONDO:equivalentTo | T-Cell Prolymphocytic Leukemia, Cerebriform Cell Variant | | MONDO:0019468 | -| MONDO:0856887 | chronic lymphocytic leukemia with plasmacytoid differentiation | NCIT:C36272 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia with Plasmacytoid Differentiation | | MONDO:0004948 | -| MONDO:0856891 | prostate carcinoma metastatic in the bone | NCIT:C36308 | MONDO:equivalentTo | Prostate Carcinoma Metastatic in the Bone | | MONDO:0004956|MONDO:0024884 | -| MONDO:0856897 | oncocytic adenocarcinoma | NCIT:C3679 | MONDO:equivalentTo | Oncocytic Adenocarcinoma | | MONDO:0004970|MONDO:0010795 | -| MONDO:0856898 | sweat gland tubular carcinoma | NCIT:C3682 | MONDO:equivalentTo | Sweat Gland Tubular Carcinoma | | MONDO:0005524|MONDO:0005606 | -| MONDO:0856899 | trabecular adenoma | NCIT:C3688 | MONDO:equivalentTo | Trabecular Adenoma | | MONDO:0004972 | -| MONDO:0856900 | carcinomatosis | NCIT:C3693 | MONDO:equivalentTo | Carcinomatosis | | MONDO:0024879 | -| MONDO:0856901 | papillary fibroelastoma | NCIT:C3695 | MONDO:equivalentTo | Papillary Fibroelastoma | | MONDO:0021505 | -| MONDO:0856902 | meningiomatosis | NCIT:C3707 | MONDO:equivalentTo | Meningiomatosis | | MONDO:0016642 | -| MONDO:0856905 | chronic lymphocytic leukemia with immunoglobulin heavy chain variable-region gene somatic hypermutation | NCIT:C37202 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation | | MONDO:0004152|MONDO:0004948 | -| MONDO:0856906 | chronic lymphocytic leukemia with unmutated immunoglobulin heavy chain variable-region gene | NCIT:C37205 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia with Unmutated Immunoglobulin Heavy Chain Variable-Region Gene | | MONDO:0004478|MONDO:0004948 | -| MONDO:0856907 | high grade b-cell lymphoma with blastoid morphologic features | NCIT:C37209 | MONDO:equivalentTo | High Grade B-Cell Lymphoma with Blastoid Morphologic Features | | MONDO:0044889 | -| MONDO:0856911 | benign kidney mixed epithelial and stromal tumor | NCIT:C37264 | MONDO:equivalentTo | Benign Kidney Mixed Epithelial and Stromal Tumor | | MONDO:0002513|MONDO:0002386 | -| MONDO:0856912 | atypical small acinar proliferation of the prostate gland | NCIT:C37268 | MONDO:equivalentTo | Atypical Small Acinar Proliferation of the Prostate Gland | | MONDO:0021259 | -| MONDO:0856914 | head and neck basaloid squamous cell carcinoma | NCIT:C37290 | MONDO:equivalentTo | Head and Neck Basaloid Squamous Cell Carcinoma | | MONDO:0003486|MONDO:0010150 | -| MONDO:0856915 | mixed mesodermal (mullerian) tumor | NCIT:C3730 | MONDO:equivalentTo | Mixed Mesodermal (Mullerian) Tumor | | MONDO:0021148|MONDO:0021043 | -| MONDO:0856917 | abdominal (mesenteric) fibromatosis | NCIT:C3741 | MONDO:equivalentTo | Abdominal (Mesenteric) Fibromatosis | | MONDO:0007608 | -| MONDO:0856918 | adenomatous polyp | NCIT:C3764 | MONDO:equivalentTo | Adenomatous Polyp | | MONDO:0006180|MONDO:0021075 | -| MONDO:0856920 | giant cell carcinoma | NCIT:C3779 | MONDO:equivalentTo | Giant Cell Carcinoma | | MONDO:0005232|MONDO:0002402|MONDO:0005617 | -| MONDO:0856923 | renal cell carcinoma associated with t(x;1)(p11.2;q21) | NCIT:C37872 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) | | MONDO:0006397 | -| MONDO:0856924 | renal cell carcinoma associated with t(x;1)(p11.2;p34) | NCIT:C37874 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) | | MONDO:0006397 | -| MONDO:0856925 | renal cell carcinoma associated with t(x;17)(p11.2;q25) | NCIT:C37876 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with t(X;17)(p11.2;q25) | | MONDO:0006397 | -| MONDO:0856927 | angiofibroma | NCIT:C3799 | MONDO:equivalentTo | Angiofibroma | | MONDO:0005167 | -| MONDO:0856930 | dermatofibrosarcoma protuberans with myoid differentiation | NCIT:C38105 | MONDO:equivalentTo | Dermatofibrosarcoma Protuberans with Myoid Differentiation | | MONDO:0011934 | -| MONDO:0856931 | myxoid dermatofibrosarcoma protuberans | NCIT:C38106 | MONDO:equivalentTo | Myxoid Dermatofibrosarcoma Protuberans | | MONDO:0011934 | -| MONDO:0856932 | dedifferentiated dermatofibrosarcoma protuberans | NCIT:C38107 | MONDO:equivalentTo | Dedifferentiated Dermatofibrosarcoma Protuberans | | MONDO:0011934 | -| MONDO:0856933 | dermatofibrosarcoma protuberans with giant cell fibroblastoma-like differentiation | NCIT:C38108 | MONDO:equivalentTo | Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like Differentiation | | MONDO:0011934 | -| MONDO:0856934 | skin basal cell carcinoma with adnexal differentiation | NCIT:C38109 | MONDO:equivalentTo | Skin Basal Cell Carcinoma with Adnexal Differentiation | | MONDO:0005341 | -| MONDO:0856938 | clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres | NCIT:C38154 | MONDO:equivalentTo | Clear Cell Myomelanocytic Tumor of the Falciform Ligament/Ligamentum Teres | | MONDO:0006359 | -| MONDO:0856939 | metachronous malignant neoplasm | NCIT:C38156 | MONDO:equivalentTo | Metachronous Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0856940 | plasmablastic lymphoma of mucosa site | NCIT:C38159 | MONDO:equivalentTo | Plasmablastic Lymphoma of Mucosa Site | | MONDO:0017347 | -| MONDO:0856941 | digestive system non-hodgkin lymphoma | NCIT:C38161 | MONDO:equivalentTo | Digestive System Non-Hodgkin Lymphoma | | MONDO:0004699|MONDO:0018908 | -| MONDO:0856942 | digestive system hodgkin lymphoma | NCIT:C38163 | MONDO:equivalentTo | Digestive System Hodgkin Lymphoma | | MONDO:0004952|MONDO:0004699 | -| MONDO:0856943 | acute myeloid leukemia with stat5b-rara | NCIT:C38377 | MONDO:equivalentTo | Acute Myeloid Leukemia with STAT5B-RARA | | MONDO:0100375 | -| MONDO:0856945 | traditional serrated adenoma | NCIT:C38458 | MONDO:equivalentTo | Traditional Serrated Adenoma | | MONDO:0006180 | -| MONDO:0856947 | benign female breast neoplasm | NCIT:C3848 | MONDO:equivalentTo | Benign Female Breast Neoplasm | | MONDO:0000620 | -| MONDO:0856948 | aggravated malignant neoplasm | NCIT:C3851 | MONDO:equivalentTo | Aggravated Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0856949 | thyroid gland sclerosing mucoepidermoid carcinoma with eosinophilia | NCIT:C38763 | MONDO:equivalentTo | Thyroid Gland Sclerosing Mucoepidermoid Carcinoma with Eosinophilia | | MONDO:0006463 | -| MONDO:0856951 | grade 1 meningioma | NCIT:C38936 | MONDO:equivalentTo | Grade 1 Meningioma | | MONDO:0016642 | -| MONDO:0856952 | compound nevus | NCIT:C3901 | MONDO:equivalentTo | Compound Nevus | | MONDO:0005073 | -| MONDO:0856963 | t-cell large granular lymphocyte leukemia, common variant | NCIT:C39584 | MONDO:equivalentTo | T-Cell Large Granular Lymphocyte Leukemia, Common Variant | | MONDO:0019469 | -| MONDO:0856964 | t-cell large granular lymphocyte leukemia expressing the t-cell receptor gamma-delta | NCIT:C39586 | MONDO:equivalentTo | T-Cell Large Granular Lymphocyte Leukemia Expressing the T-Cell Receptor Gamma-Delta | | MONDO:0019469 | -| MONDO:0856966 | anaplastic large cell lymphoma, giant cell rich subtype | NCIT:C39674 | MONDO:equivalentTo | Anaplastic Large Cell Lymphoma, Giant Cell Rich Subtype | | MONDO:0020325 | -| MONDO:0856967 | anaplastic large cell lymphoma, sarcomatoid subtype | NCIT:C39675 | MONDO:equivalentTo | Anaplastic Large Cell Lymphoma, Sarcomatoid Subtype | | MONDO:0020325 | -| MONDO:0856968 | anaplastic large cell lymphoma, signet ring-like subtype | NCIT:C39676 | MONDO:equivalentTo | Anaplastic Large Cell Lymphoma, Signet Ring-Like Subtype | | MONDO:0020325 | -| MONDO:0856969 | pleomorphic variant mantle cell lymphoma | NCIT:C39747 | MONDO:equivalentTo | Pleomorphic Variant Mantle Cell Lymphoma | | MONDO:0018876 | -| MONDO:0856970 | type ii endometrial adenocarcinoma | NCIT:C39749 | MONDO:equivalentTo | Type II Endometrial Adenocarcinoma | | MONDO:0005461 | -| MONDO:0856971 | glioblastoma, idh-wildtype | NCIT:C39750 | MONDO:equivalentTo | Glioblastoma, IDH-Wildtype | | MONDO:0018177 | -| MONDO:0856972 | secondary glioblastoma | NCIT:C39751 | MONDO:equivalentTo | Secondary Glioblastoma | | MONDO:0018177 | -| MONDO:0856973 | conventional ameloblastoma | NCIT:C39755 | MONDO:equivalentTo | Conventional Ameloblastoma | | MONDO:0017795 | -| MONDO:0856974 | unicystic ameloblastoma | NCIT:C39756 | MONDO:equivalentTo | Unicystic Ameloblastoma | | MONDO:0021077|MONDO:0017795 | -| MONDO:0856975 | renal cell carcinoma with constitutional chromosome 3 translocations | NCIT:C39790 | MONDO:equivalentTo | Renal Cell Carcinoma with Constitutional Chromosome 3 Translocations | | MONDO:0003008 | -| MONDO:0856976 | renal cell carcinoma associated with inv(x)(p11;q12) | NCIT:C39802 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with inv(X)(p11;q12) | | MONDO:0006397 | -| MONDO:0856980 | invasive bladder sarcomatoid urothelial carcinoma with heterologous elements | NCIT:C39825 | MONDO:equivalentTo | Invasive Bladder Sarcomatoid Urothelial Carcinoma with Heterologous Elements | | MONDO:0004278 | -| MONDO:0856981 | invasive bladder sarcomatoid urothelial carcinoma without heterologous elements | NCIT:C39826 | MONDO:equivalentTo | Invasive Bladder Sarcomatoid Urothelial Carcinoma without Heterologous Elements | | MONDO:0004278 | -| MONDO:0856984 | bladder adenocarcinoma, not otherwise specified | NCIT:C39836 | MONDO:equivalentTo | Bladder Adenocarcinoma, Not Otherwise Specified | | MONDO:0002751 | -| MONDO:0856986 | human papillomavirus-related urethral squamous cell carcinoma | NCIT:C39862 | MONDO:equivalentTo | Human Papillomavirus-Related Urethral Squamous Cell Carcinoma | | MONDO:0002764|MONDO:0020657 | -| MONDO:0856987 | bladder mucosa-associated lymphoid tissue lymphoma | NCIT:C39878 | MONDO:equivalentTo | Bladder Mucosa-Associated Lymphoid Tissue Lymphoma | | MONDO:0001381|MONDO:0007650 | -| MONDO:0856988 | prostate acinar adenocarcinoma, atrophic pattern | NCIT:C39880 | MONDO:equivalentTo | Prostate Acinar Adenocarcinoma, Atrophic Pattern | | MONDO:0002493 | -| MONDO:0856989 | prostate acinar pseudohyperplastic adenocarcinoma | NCIT:C39881 | MONDO:equivalentTo | Prostate Acinar Pseudohyperplastic Adenocarcinoma | | MONDO:0002493 | -| MONDO:0856991 | prostatic duct urothelial carcinoma | NCIT:C39901 | MONDO:equivalentTo | Prostatic Duct Urothelial Carcinoma | | MONDO:0002834 | -| MONDO:0856992 | testicular seminoma with syncytiotrophoblastic cells | NCIT:C39919 | MONDO:equivalentTo | Testicular Seminoma with Syncytiotrophoblastic Cells | | MONDO:0003669 | -| MONDO:0856994 | testicular seminoma with high mitotic index | NCIT:C39920 | MONDO:equivalentTo | Testicular Seminoma with High Mitotic Index | | MONDO:0020633|MONDO:0003669 | -| MONDO:0856995 | testicular spermatocytic tumor with sarcoma | NCIT:C39922 | MONDO:equivalentTo | Testicular Spermatocytic Tumor with Sarcoma | | MONDO:0020513 | -| MONDO:0856996 | monodermal testicular teratoma | NCIT:C39936 | MONDO:equivalentTo | Monodermal Testicular Teratoma | | MONDO:0018193 | -| MONDO:0856997 | testicular sertoli cell tumor, lipid rich variant | NCIT:C39943 | MONDO:equivalentTo | Testicular Sertoli Cell Tumor, Lipid Rich Variant | | MONDO:0020813 | -| MONDO:0856998 | testicular large cell calcifying sertoli cell tumor | NCIT:C39944 | MONDO:equivalentTo | Testicular Large Cell Calcifying Sertoli Cell Tumor | | MONDO:0020808 | -| MONDO:0856999 | testicular sclerosing sertoli cell tumor | NCIT:C39945 | MONDO:equivalentTo | Testicular Sclerosing Sertoli Cell Tumor | | MONDO:0020813 | -| MONDO:0857002 | tumor of the thecoma/fibroma group | NCIT:C39950 | MONDO:equivalentTo | Tumor of the Thecoma/Fibroma Group | | MONDO:0006055 | -| MONDO:0857004 | moderately differentiated ovarian sertoli-leydig cell tumor | NCIT:C39968 | MONDO:equivalentTo | Moderately Differentiated Ovarian Sertoli-Leydig Cell Tumor | | MONDO:0036595 | -| MONDO:0857005 | ovarian sertoli-leydig cell tumor with heterologous elements | NCIT:C39970 | MONDO:equivalentTo | Ovarian Sertoli-Leydig Cell Tumor with Heterologous Elements | | MONDO:0036595 | -| MONDO:0857006 | ovarian retiform sertoli-leydig cell tumor | NCIT:C39971 | MONDO:equivalentTo | Ovarian Retiform Sertoli-Leydig Cell Tumor | | MONDO:0036595 | -| MONDO:0857007 | ovarian sertoli-leydig cell tumor with retiform elements | NCIT:C39974 | MONDO:equivalentTo | Ovarian Sertoli-Leydig Cell Tumor with Retiform Elements | | MONDO:0036595 | -| MONDO:0857008 | ovarian stromal-leydig cell tumor | NCIT:C39977 | MONDO:equivalentTo | Ovarian Stromal-Leydig Cell Tumor | | MONDO:0024387|MONDO:0020807 | -| MONDO:0857009 | ovarian sex cord-stromal tumor, not otherwise specified | NCIT:C39978 | MONDO:equivalentTo | Ovarian Sex Cord-Stromal Tumor, Not Otherwise Specified | | MONDO:0021657 | -| MONDO:0857012 | malignant ovarian teratoma | NCIT:C39995 | MONDO:equivalentTo | Malignant Ovarian Teratoma | | MONDO:0018171|MONDO:0003514|MONDO:0003821 | -| MONDO:0857014 | borderline ovarian serous tumor/atypical proliferative ovarian serous tumor with microinvasion | NCIT:C40027 | MONDO:equivalentTo | Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor with Microinvasion | | MONDO:0037255 | -| MONDO:0857015 | borderline ovarian serous adenofibroma | NCIT:C40028 | MONDO:equivalentTo | Borderline Ovarian Serous Adenofibroma | | MONDO:0024886|MONDO:0003462|MONDO:0020662 | -| MONDO:0857016 | borderline ovarian mucinous tumor | NCIT:C40036 | MONDO:equivalentTo | Borderline Ovarian Mucinous Tumor | | MONDO:0003756|MONDO:0016093 | -| MONDO:0857017 | ovarian mucinous cystic tumor with mural nodules | NCIT:C40042 | MONDO:equivalentTo | Ovarian Mucinous Cystic Tumor with Mural Nodules | | MONDO:0003756 | -| MONDO:0857018 | ovarian mucinous cystic tumor associated with pseudomyxoma peritonei | NCIT:C40043 | MONDO:equivalentTo | Ovarian Mucinous Cystic Tumor Associated with Pseudomyxoma Peritonei | | MONDO:0003756 | -| MONDO:0857022 | borderline ovarian clear cell tumor | NCIT:C40080 | MONDO:equivalentTo | Borderline Ovarian Clear Cell Tumor | | MONDO:0021144|MONDO:0016093 | -| MONDO:0857025 | fallopian tube serous neoplasm | NCIT:C40102 | MONDO:equivalentTo | Fallopian Tube Serous Neoplasm | | MONDO:0037256|MONDO:0021092 | -| MONDO:0857028 | fallopian tube endometrioid polyp | NCIT:C40115 | MONDO:equivalentTo | Fallopian Tube Endometrioid Polyp | | MONDO:0021075|MONDO:0021576 | -| MONDO:0857029 | fallopian tube metaplastic papillary tumor | NCIT:C40116 | MONDO:equivalentTo | Fallopian Tube Metaplastic Papillary Tumor | | MONDO:0021096|MONDO:0000645|MONDO:0036976 | -| MONDO:0857030 | fallopian tube soft tissue neoplasm | NCIT:C40126 | MONDO:equivalentTo | Fallopian Tube Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0021092 | -| MONDO:0857031 | type i endometrial adenocarcinoma | NCIT:C40145 | MONDO:equivalentTo | Type I Endometrial Adenocarcinoma | | MONDO:0005461 | -| MONDO:0857033 | figo grade 1 endometrial mucinous adenocarcinoma | NCIT:C40149 | MONDO:equivalentTo | FIGO Grade 1 Endometrial Mucinous Adenocarcinoma | | MONDO:0002747 | -| MONDO:0857034 | figo grade 2 endometrial mucinous adenocarcinoma | NCIT:C40150 | MONDO:equivalentTo | FIGO Grade 2 Endometrial Mucinous Adenocarcinoma | | MONDO:0002747 | -| MONDO:0857035 | figo grade 3 endometrial mucinous adenocarcinoma | NCIT:C40151 | MONDO:equivalentTo | FIGO Grade 3 Endometrial Mucinous Adenocarcinoma | | MONDO:0002747 | -| MONDO:0857036 | uterine corpus leiomyoma, mitotically active variant | NCIT:C40162 | MONDO:equivalentTo | Uterine Corpus Leiomyoma, Mitotically Active Variant | | MONDO:0007886 | -| MONDO:0857037 | uterine corpus soft tissue neoplasm | NCIT:C40179 | MONDO:equivalentTo | Uterine Corpus Soft Tissue Neoplasm | | MONDO:0021254|MONDO:0006424 | -| MONDO:0857039 | cervical squamous neoplasm | NCIT:C40195 | MONDO:equivalentTo | Cervical Squamous Neoplasm | | MONDO:0002532|MONDO:0021230 | -| MONDO:0857040 | cervical glandular neoplasm | NCIT:C40210 | MONDO:equivalentTo | Cervical Glandular Neoplasm | | MONDO:0024276|MONDO:0021230 | -| MONDO:0857041 | cervical soft tissue neoplasm | NCIT:C40216 | MONDO:equivalentTo | Cervical Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0021230 | -| MONDO:0857043 | cervical mixed epithelial and mesenchymal neoplasm | NCIT:C40226 | MONDO:equivalentTo | Cervical Mixed Epithelial and Mesenchymal Neoplasm | | MONDO:0021043|MONDO:0021230 | -| MONDO:0857045 | vaginal keratinizing squamous cell carcinoma | NCIT:C40243 | MONDO:equivalentTo | Vaginal Keratinizing Squamous Cell Carcinoma | | MONDO:0005056|MONDO:0006490 | -| MONDO:0857046 | vaginal basaloid squamous cell carcinoma | NCIT:C40245 | MONDO:equivalentTo | Vaginal Basaloid Squamous Cell Carcinoma | | MONDO:0003486|MONDO:0006490 | -| MONDO:0857047 | vaginal endometrioid adenocarcinoma | NCIT:C40251 | MONDO:equivalentTo | Vaginal Endometrioid Adenocarcinoma | | MONDO:0020653|MONDO:0005026 | -| MONDO:0857048 | vaginal mucinous adenocarcinoma | NCIT:C40252 | MONDO:equivalentTo | Vaginal Mucinous Adenocarcinoma | | MONDO:0020653|MONDO:0004957 | -| MONDO:0857049 | vaginal mesonephric adenocarcinoma | NCIT:C40253 | MONDO:equivalentTo | Vaginal Mesonephric Adenocarcinoma | | MONDO:0020653|MONDO:0005613 | -| MONDO:0857050 | vaginal adenosquamous carcinoma | NCIT:C40260 | MONDO:equivalentTo | Vaginal Adenosquamous Carcinoma | | MONDO:0015867|MONDO:0006074 | -| MONDO:0857051 | vaginal adenoid basal carcinoma | NCIT:C40262 | MONDO:equivalentTo | Vaginal Adenoid Basal Carcinoma | | MONDO:0015867 | -| MONDO:0857052 | vaginal undifferentiated carcinoma | NCIT:C40264 | MONDO:equivalentTo | Vaginal Undifferentiated Carcinoma | | MONDO:0015867|MONDO:0005617 | -| MONDO:0857053 | vaginal soft tissue neoplasm | NCIT:C40265 | MONDO:equivalentTo | Vaginal Soft Tissue Neoplasm | | MONDO:0021050|MONDO:0006424 | -| MONDO:0857056 | vaginal mixed epithelial and mesenchymal neoplasm | NCIT:C40274 | MONDO:equivalentTo | Vaginal Mixed Epithelial and Mesenchymal Neoplasm | | MONDO:0021043|MONDO:0021050 | -| MONDO:0857057 | malignant vaginal mixed tumor resembling synovial sarcoma | NCIT:C40279 | MONDO:equivalentTo | Malignant Vaginal Mixed Tumor Resembling Synovial Sarcoma | | MONDO:0037746 | -| MONDO:0857058 | vulvar squamous cell carcinoma with tumor giant cells | NCIT:C40289 | MONDO:equivalentTo | Vulvar Squamous Cell Carcinoma with Tumor Giant Cells | | MONDO:0024609 | -| MONDO:0857059 | vulvar neoplasm of skin appendage origin | NCIT:C40303 | MONDO:equivalentTo | Vulvar Neoplasm of Skin Appendage Origin | | MONDO:0002297|MONDO:0021049 | -| MONDO:0857061 | vulvar soft tissue neoplasm | NCIT:C40316 | MONDO:equivalentTo | Vulvar Soft Tissue Neoplasm | | MONDO:0021049|MONDO:0006424 | -| MONDO:0857062 | superficial angiomyxoma | NCIT:C40323 | MONDO:equivalentTo | Superficial Angiomyxoma | | MONDO:0006086 | -| MONDO:0857067 | vulvar melanocytic neoplasm | NCIT:C40335 | MONDO:equivalentTo | Vulvar Melanocytic Neoplasm | | MONDO:0021143|MONDO:0021049 | -| MONDO:0857071 | breast carcinoma with osteoclast-like stromal giant cells | NCIT:C40349 | MONDO:equivalentTo | Breast Carcinoma with Osteoclast-Like Stromal Giant Cells | | MONDO:0004953 | -| MONDO:0857072 | breast carcinoma with choriocarcinomatous features | NCIT:C40350 | MONDO:equivalentTo | Breast Carcinoma with Choriocarcinomatous Features | | MONDO:0004953 | -| MONDO:0857073 | breast carcinoma with melanotic features | NCIT:C40351 | MONDO:equivalentTo | Breast Carcinoma with Melanotic Features | | MONDO:0004953 | -| MONDO:0857075 | low grade breast adenosquamous carcinoma | NCIT:C40362 | MONDO:equivalentTo | Low Grade Breast Adenosquamous Carcinoma | | MONDO:0003548 | -| MONDO:0857076 | acute myeloid leukemia arising from previous myelodysplastic syndrome | NCIT:C4037 | MONDO:equivalentTo | Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | | MONDO:0019457 | -| MONDO:0857078 | postradiation breast angiosarcoma | NCIT:C40378 | MONDO:equivalentTo | Postradiation Breast Angiosarcoma | | MONDO:0003024 | -| MONDO:0857080 | salivary gland myoepithelial tumor | NCIT:C40393 | MONDO:equivalentTo | Salivary Gland Myoepithelial Tumor | | MONDO:0002380|MONDO:0021357 | -| MONDO:0857083 | breast soft tissue neoplasm | NCIT:C40406 | MONDO:equivalentTo | Breast Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0021100 | -| MONDO:0857084 | breast pleomorphic adenoma | NCIT:C40408 | MONDO:equivalentTo | Breast Pleomorphic Adenoma | | MONDO:0008401|MONDO:0002058 | -| MONDO:0857089 | ovarian sex cord-stromal tumor associated with peutz-jeghers syndrome | NCIT:C40436 | MONDO:equivalentTo | Ovarian Sex Cord-Stromal Tumor Associated with Peutz-Jeghers Syndrome | | MONDO:0021657 | -| MONDO:0857091 | esophageal polyp | NCIT:C4057 | MONDO:equivalentTo | Esophageal Polyp | | MONDO:0021459|MONDO:0024292 | -| MONDO:0857095 | polycythemia vera, polycythemic phase | NCIT:C41232 | MONDO:equivalentTo | Polycythemia Vera, Polycythemic Phase | | MONDO:0009891 | -| MONDO:0857096 | polycythemia vera, post-polycythemic myelofibrosis phase | NCIT:C41233 | MONDO:equivalentTo | Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase | | MONDO:0009891 | -| MONDO:0857097 | overt primary myelofibrosis | NCIT:C41238 | MONDO:equivalentTo | Overt Primary Myelofibrosis | | MONDO:0009692 | -| MONDO:0857098 | metastatic adenocarcinoma | NCIT:C4124 | MONDO:equivalentTo | Metastatic Adenocarcinoma | | MONDO:0004970|MONDO:0024879 | -| MONDO:0857100 | solid carcinoma | NCIT:C4137 | MONDO:equivalentTo | Solid Carcinoma | | MONDO:0004993 | -| MONDO:0857101 | basophilic adenocarcinoma | NCIT:C4150 | MONDO:equivalentTo | Basophilic Adenocarcinoma | | MONDO:0004970 | -| MONDO:0857102 | juxtaglomerular cell tumor | NCIT:C4162 | MONDO:equivalentTo | Juxtaglomerular Cell Tumor | | MONDO:0002513 | -| MONDO:0857103 | adrenal cortical compact cell adenoma | NCIT:C4163 | MONDO:equivalentTo | Adrenal Cortical Compact Cell Adenoma | | MONDO:0003924 | -| MONDO:0857104 | pigmented adrenal cortical adenoma | NCIT:C4164 | MONDO:equivalentTo | Pigmented Adrenal Cortical Adenoma | | MONDO:0003924 | -| MONDO:0857105 | adrenal cortical clear cell adenoma | NCIT:C4165 | MONDO:equivalentTo | Adrenal Cortical Clear Cell Adenoma | | MONDO:0003924|MONDO:0003426 | -| MONDO:0857106 | adrenal cortical glomerulosa cell adenoma | NCIT:C4166 | MONDO:equivalentTo | Adrenal Cortical Glomerulosa Cell Adenoma | | MONDO:0003924 | -| MONDO:0857107 | adrenal cortical mixed cell adenoma | NCIT:C4167 | MONDO:equivalentTo | Adrenal Cortical Mixed Cell Adenoma | | MONDO:0003421|MONDO:0003924 | -| MONDO:0857109 | papillary serous cystadenoma | NCIT:C4180 | MONDO:equivalentTo | Papillary Serous Cystadenoma | | MONDO:0005177|MONDO:0021091 | -| MONDO:0857110 | serous surface papillary carcinoma | NCIT:C4182 | MONDO:equivalentTo | Serous Surface Papillary Carcinoma | | MONDO:0005278|MONDO:0002512 | -| MONDO:0857111 | papillary mucinous cystadenoma | NCIT:C4184 | MONDO:equivalentTo | Papillary Mucinous Cystadenoma | | MONDO:0021091|MONDO:0006859 | -| MONDO:0857112 | gliomatosis cerebri type i | NCIT:C41842 | MONDO:equivalentTo | Gliomatosis Cerebri Type I | | MONDO:0016683 | -| MONDO:0857113 | gliomatosis cerebri type ii | NCIT:C41843 | MONDO:equivalentTo | Gliomatosis Cerebri Type II | | MONDO:0016683 | -| MONDO:0857115 | thyroid gland medullary carcinoma with amyloid stroma | NCIT:C4193 | MONDO:equivalentTo | Thyroid Gland Medullary Carcinoma with Amyloid Stroma | | MONDO:0015277 | -| MONDO:0857117 | acinar cell neoplasm | NCIT:C4197 | MONDO:equivalentTo | Acinar Cell Neoplasm | | MONDO:0024276 | -| MONDO:0857118 | ovarian luteinized thecoma | NCIT:C4203 | MONDO:equivalentTo | Ovarian Luteinized Thecoma | | MONDO:0037253 | -| MONDO:0857119 | undifferentiated neuroblastoma | NCIT:C42046 | MONDO:equivalentTo | Undifferentiated Neuroblastoma | | MONDO:0005072 | -| MONDO:0857120 | poorly differentiated neuroblastoma | NCIT:C42047 | MONDO:equivalentTo | Poorly Differentiated Neuroblastoma | | MONDO:0005072 | -| MONDO:0857121 | malignant granulosa cell tumor | NCIT:C4205 | MONDO:equivalentTo | Malignant Granulosa Cell Tumor | | MONDO:0006036 | -| MONDO:0857122 | maturing ganglioneuroma | NCIT:C42064 | MONDO:equivalentTo | Maturing Ganglioneuroma | | MONDO:0005033 | -| MONDO:0857123 | mature ganglioneuroma | NCIT:C42065 | MONDO:equivalentTo | Mature Ganglioneuroma | | MONDO:0005033 | -| MONDO:0857125 | ovarian sex cord tumor with annular tubules | NCIT:C4208 | MONDO:equivalentTo | Ovarian Sex Cord Tumor with Annular Tubules | | MONDO:0021657 | -| MONDO:0857126 | well differentiated ovarian sertoli-leydig cell tumor | NCIT:C4209 | MONDO:equivalentTo | Well Differentiated Ovarian Sertoli-Leydig Cell Tumor | | MONDO:0036595 | -| MONDO:0857127 | poorly differentiated ovarian sertoli-leydig cell tumor | NCIT:C4210 | MONDO:equivalentTo | Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor | | MONDO:0018172|MONDO:0036595 | -| MONDO:0857128 | ovarian steroid cell tumor | NCIT:C4215 | MONDO:equivalentTo | Ovarian Steroid Cell Tumor | | MONDO:0021657 | -| MONDO:0857129 | balloon cell nevus | NCIT:C4226 | MONDO:equivalentTo | Balloon Cell Nevus | | MONDO:0044794 | -| MONDO:0857130 | regressing melanoma | NCIT:C4228 | MONDO:equivalentTo | Regressing Melanoma | | MONDO:0005105 | -| MONDO:0857131 | neuronevus | NCIT:C4229 | MONDO:equivalentTo | Neuronevus | | MONDO:0006813 | -| MONDO:0857132 | junctional nevus | NCIT:C4231 | MONDO:equivalentTo | Junctional Nevus | | MONDO:0005073 | -| MONDO:0857133 | melanoma in junctional nevus | NCIT:C4232 | MONDO:equivalentTo | Melanoma in Junctional Nevus | | MONDO:0005012 | -| MONDO:0857134 | type a spindle cell melanoma | NCIT:C4238 | MONDO:equivalentTo | Type A Spindle Cell Melanoma | | MONDO:0006427 | -| MONDO:0857135 | type b spindle cell melanoma | NCIT:C4239 | MONDO:equivalentTo | Type B Spindle Cell Melanoma | | MONDO:0006427 | -| MONDO:0857136 | melanoma arising in blue nevus | NCIT:C4240 | MONDO:equivalentTo | Melanoma Arising in Blue Nevus | | MONDO:0005012 | -| MONDO:0857137 | cellular blue nevus | NCIT:C4241 | MONDO:equivalentTo | Cellular Blue Nevus | | MONDO:0006680 | -| MONDO:0857138 | fibrolipoma | NCIT:C4249 | MONDO:equivalentTo | Fibrolipoma | | MONDO:0005106 | -| MONDO:0857139 | fibromyxolipoma | NCIT:C4251 | MONDO:equivalentTo | Fibromyxolipoma | | MONDO:0005106 | -| MONDO:0857140 | lipoblastomatosis | NCIT:C4255 | MONDO:equivalentTo | Lipoblastomatosis | | MONDO:0044983 | -| MONDO:0857141 | sporadic retinoblastoma | NCIT:C42596 | MONDO:equivalentTo | Sporadic Retinoblastoma | | MONDO:0008380 | -| MONDO:0857144 | acute myelomonocytic leukemia without abnormal eosinophils | NCIT:C42779 | MONDO:equivalentTo | Acute Myelomonocytic Leukemia without Abnormal Eosinophils | | MONDO:0018871 | -| MONDO:0857145 | pericardial solitary fibrous tumor | NCIT:C4281 | MONDO:equivalentTo | Pericardial Solitary Fibrous Tumor | | MONDO:0016238|MONDO:0021381 | -| MONDO:0857146 | benign hemangiopericytoma | NCIT:C4300 | MONDO:equivalentTo | Benign Hemangiopericytoma | | MONDO:0005094 | -| MONDO:0857147 | benign odontogenic neoplasm | NCIT:C4306 | MONDO:equivalentTo | Benign Odontogenic Neoplasm | | MONDO:0021445|MONDO:0021192 | -| MONDO:0857152 | pure cutaneous mastocytosis | NCIT:C43277 | MONDO:equivalentTo | Pure Cutaneous Mastocytosis | | MONDO:0019023 | -| MONDO:0857155 | germinative follicular epithelium neoplasm | NCIT:C43311 | MONDO:equivalentTo | Germinative Follicular Epithelium Neoplasm | | MONDO:0003413|MONDO:0021634 | -| MONDO:0857156 | adamantinoid trichoblastoma | NCIT:C43312 | MONDO:equivalentTo | Adamantinoid Trichoblastoma | | MONDO:0020593 | -| MONDO:0857160 | outer hair sheath and infundibulum neoplasm | NCIT:C43324 | MONDO:equivalentTo | Outer Hair Sheath and Infundibulum Neoplasm | | MONDO:0003413 | -| MONDO:0857163 | superficial epithelioma with sebaceous differentiation | NCIT:C43334 | MONDO:equivalentTo | Superficial Epithelioma with Sebaceous Differentiation | | MONDO:0021490 | -| MONDO:0857164 | sebaceoma | NCIT:C43336 | MONDO:equivalentTo | Sebaceoma | | MONDO:0021490 | -| MONDO:0857165 | extraocular cutaneous sebaceous carcinoma | NCIT:C43341 | MONDO:equivalentTo | Extraocular Cutaneous Sebaceous Carcinoma | | MONDO:0006962 | -| MONDO:0857166 | apocrine hidrocystoma | NCIT:C43342 | MONDO:equivalentTo | Apocrine Hidrocystoma | | MONDO:0002804|MONDO:0006787 | -| MONDO:0857167 | cylindrocarcinoma | NCIT:C43344 | MONDO:equivalentTo | Cylindrocarcinoma | | MONDO:0005524|MONDO:0024878 | -| MONDO:0857168 | ductal eccrine carcinoma with spindle cell elements | NCIT:C43346 | MONDO:equivalentTo | Ductal Eccrine Carcinoma with Spindle Cell Elements | | MONDO:0024245 | -| MONDO:0857169 | squamoid eccrine ductal carcinoma | NCIT:C43347 | MONDO:equivalentTo | Squamoid Eccrine Ductal Carcinoma | | MONDO:0024245 | -| MONDO:0857170 | ductal eccrine carcinoma with abundant fibromyxoid stroma | NCIT:C43349 | MONDO:equivalentTo | Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma | | MONDO:0024245 | -| MONDO:0857171 | sporadic cylindroma | NCIT:C43351 | MONDO:equivalentTo | Sporadic Cylindroma | | MONDO:0021812 | -| MONDO:0857172 | classic poroma | NCIT:C43353 | MONDO:equivalentTo | Classic Poroma | | MONDO:0006738 | -| MONDO:0857173 | porocarcinoma in situ | NCIT:C43354 | MONDO:equivalentTo | Porocarcinoma In Situ | | MONDO:0006189 | -| MONDO:0857174 | aleukemic lymphoid leukemia | NCIT:C4343 | MONDO:equivalentTo | Aleukemic Lymphoid Leukemia | | MONDO:0005402|MONDO:0003730 | -| MONDO:0857175 | sporadic gastric adenocarcinoma | NCIT:C43527 | MONDO:equivalentTo | Sporadic Gastric Adenocarcinoma | | MONDO:0005036 | -| MONDO:0857177 | small intestinal adenosquamous carcinoma | NCIT:C43535 | MONDO:equivalentTo | Small Intestinal Adenosquamous Carcinoma | | MONDO:0005522|MONDO:0006074 | -| MONDO:0857178 | small intestinal mucinous adenocarcinoma | NCIT:C43536 | MONDO:equivalentTo | Small Intestinal Mucinous Adenocarcinoma | | MONDO:0003198|MONDO:0004957 | -| MONDO:0857179 | small intestinal medullary carcinoma | NCIT:C43537 | MONDO:equivalentTo | Small Intestinal Medullary Carcinoma | | MONDO:0005522 | -| MONDO:0857180 | small intestinal undifferentiated carcinoma | NCIT:C43538 | MONDO:equivalentTo | Small Intestinal Undifferentiated Carcinoma | | MONDO:0005522|MONDO:0005617 | -| MONDO:0857181 | pituitary neuroendocrine tumor/microadenoma | NCIT:C43541 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor/Microadenoma | | MONDO:0006373 | -| MONDO:0857182 | pituitary neuroendocrine tumor/macroadenoma | NCIT:C43542 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor/Macroadenoma | | MONDO:0006373 | -| MONDO:0857183 | small intestinal signet ring cell carcinoma | NCIT:C43543 | MONDO:equivalentTo | Small Intestinal Signet Ring Cell Carcinoma | | MONDO:0003198|MONDO:0005092 | -| MONDO:0857184 | appendix tubular adenoma | NCIT:C43546 | MONDO:equivalentTo | Appendix Tubular Adenoma | | MONDO:0006088|MONDO:0024660 | -| MONDO:0857185 | appendix tubulovillous adenoma | NCIT:C43547 | MONDO:equivalentTo | Appendix Tubulovillous Adenoma | | MONDO:0006088|MONDO:0024661 | -| MONDO:0857187 | eyelid squamous papilloma | NCIT:C4355 | MONDO:equivalentTo | Eyelid Squamous Papilloma | | MONDO:0021275|MONDO:0001825 | -| MONDO:0857188 | small intestinal villous adenoma | NCIT:C43551 | MONDO:equivalentTo | Small Intestinal Villous Adenoma | | MONDO:0000502|MONDO:0021303 | -| MONDO:0857189 | appendix signet ring cell carcinoma | NCIT:C43554 | MONDO:equivalentTo | Appendix Signet Ring Cell Carcinoma | | MONDO:0006087|MONDO:0005092 | -| MONDO:0857190 | appendix undifferentiated carcinoma | NCIT:C43556 | MONDO:equivalentTo | Appendix Undifferentiated Carcinoma | | MONDO:0003196|MONDO:0005617 | -| MONDO:0857191 | appendix mixed adenoneuroendocrine carcinoma | NCIT:C43564 | MONDO:equivalentTo | Appendix Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0003196 | -| MONDO:0857192 | appendix tubular carcinoid | NCIT:C43565 | MONDO:equivalentTo | Appendix Tubular Carcinoid | | MONDO:0015066 | -| MONDO:0857194 | rectosigmoid adenocarcinoma | NCIT:C43584 | MONDO:equivalentTo | Rectosigmoid Adenocarcinoma | | MONDO:0002424|MONDO:0005008 | -| MONDO:0857195 | colorectal mucinous adenocarcinoma | NCIT:C43585 | MONDO:equivalentTo | Colorectal Mucinous Adenocarcinoma | | MONDO:0005008|MONDO:0004957 | -| MONDO:0857196 | colorectal undifferentiated carcinoma | NCIT:C43591 | MONDO:equivalentTo | Colorectal Undifferentiated Carcinoma | | MONDO:0005617|MONDO:0024331 | -| MONDO:0857198 | gallbladder adenocarcinoma, intestinal-type | NCIT:C43604 | MONDO:equivalentTo | Gallbladder Adenocarcinoma, Intestinal-Type | | MONDO:0006215|MONDO:0006254 | -| MONDO:0857199 | gallbladder clear cell adenocarcinoma | NCIT:C43605 | MONDO:equivalentTo | Gallbladder Clear Cell Adenocarcinoma | | MONDO:0006215|MONDO:0005004 | -| MONDO:0857200 | gallbladder flat biliary intraepithelial neoplasia | NCIT:C43607 | MONDO:equivalentTo | Gallbladder Flat Biliary Intraepithelial Neoplasia | | MONDO:0006218 | -| MONDO:0857201 | gallbladder papillary biliary intraepithelial neoplasia | NCIT:C43609 | MONDO:equivalentTo | Gallbladder Papillary Biliary Intraepithelial Neoplasia | | MONDO:0006218 | -| MONDO:0857202 | pleomorphic hepatocellular carcinoma | NCIT:C43625 | MONDO:equivalentTo | Pleomorphic Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0857203 | sarcomatoid hepatocellular carcinoma | NCIT:C43627 | MONDO:equivalentTo | Sarcomatoid Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0857206 | accessory urethral gland neoplasm | NCIT:C4378 | MONDO:equivalentTo | Accessory Urethral Gland Neoplasm | | MONDO:0021239 | -| MONDO:0857208 | clear cell intrahepatic cholangiocarcinoma | NCIT:C43848 | MONDO:equivalentTo | Clear Cell Intrahepatic Cholangiocarcinoma | | MONDO:0005004|MONDO:0003210 | -| MONDO:0857210 | anogenital papillomaviral intraepithelial neoplasia | NCIT:C4394 | MONDO:equivalentTo | Anogenital Papillomaviral Intraepithelial Neoplasia | | MONDO:0024475 | -| MONDO:0857211 | posterior tongue neoplasm | NCIT:C4400 | MONDO:equivalentTo | Posterior Tongue Neoplasm | | MONDO:0021240 | -| MONDO:0857212 | pyriform fossa neoplasm | NCIT:C4424 | MONDO:equivalentTo | Pyriform Fossa Neoplasm | | MONDO:0021358 | -| MONDO:0857213 | gastric pylorus carcinoma in situ ajcc v6 and v7 | NCIT:C4431 | MONDO:equivalentTo | Gastric Pylorus Carcinoma In Situ AJCC v6 and v7 | | MONDO:0004716|MONDO:0003971 | -| MONDO:0857215 | lung epithelioid hemangioendothelioma | NCIT:C4453 | MONDO:equivalentTo | Lung Epithelioid Hemangioendothelioma | | MONDO:0008903|MONDO:0015523 | -| MONDO:0857216 | dermal duct tumor | NCIT:C4473 | MONDO:equivalentTo | Dermal Duct Tumor | | MONDO:0006738 | -| MONDO:0857217 | cutaneous neural neoplasm | NCIT:C4479 | MONDO:equivalentTo | Cutaneous Neural Neoplasm | | MONDO:0002300|MONDO:0001406 | -| MONDO:0857219 | malignant skin hemangiopericytoma | NCIT:C4493 | MONDO:equivalentTo | Malignant Skin Hemangiopericytoma | | MONDO:0021424|MONDO:0009330 | -| MONDO:0857220 | cockade nevus | NCIT:C4495 | MONDO:equivalentTo | Cockade Nevus | | MONDO:0044794 | -| MONDO:0857222 | common blue nevus | NCIT:C4496 | MONDO:equivalentTo | Common Blue Nevus | | MONDO:0006680 | -| MONDO:0857223 | nevus spilus | NCIT:C4498 | MONDO:equivalentTo | Nevus Spilus | | MONDO:0044792 | -| MONDO:0857224 | benign ovarian epithelial tumor | NCIT:C4510 | MONDO:equivalentTo | Benign Ovarian Epithelial Tumor | | MONDO:0002229|MONDO:0036976|MONDO:0000646 | -| MONDO:0857229 | classical low grade fibromyxoid sarcoma | NCIT:C45210 | MONDO:equivalentTo | Classical Low Grade Fibromyxoid Sarcoma | | MONDO:0006272 | -| MONDO:0857233 | cutaneous hematopoietic and lymphoid cell neoplasm | NCIT:C45240 | MONDO:equivalentTo | Cutaneous Hematopoietic and Lymphoid Cell Neoplasm | | MONDO:0002531|MONDO:0044881 | -| MONDO:0857240 | lacrimal gland pleomorphic adenoma | NCIT:C4542 | MONDO:equivalentTo | Lacrimal Gland Pleomorphic Adenoma | | MONDO:0008401|MONDO:0021488 | -| MONDO:0857244 | orbit capillary hemangioma | NCIT:C4545 | MONDO:equivalentTo | Orbit Capillary Hemangioma | | MONDO:0002407|MONDO:0001974 | -| MONDO:0857245 | orbit hemangiopericytoma | NCIT:C4547 | MONDO:equivalentTo | Orbit Hemangiopericytoma | | MONDO:0005094 | -| MONDO:0857247 | lymphangioma circumscriptum | NCIT:C45485 | MONDO:equivalentTo | Lymphangioma Circumscriptum | | MONDO:0002013 | -| MONDO:0857248 | lung squamous cell carcinoma, papillary variant | NCIT:C45502 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma, Papillary Variant | | MONDO:0005056|MONDO:0002979|MONDO:0056806 | -| MONDO:0857249 | lung squamous cell carcinoma, clear cell variant | NCIT:C45503 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma, Clear Cell Variant | | MONDO:0005056|MONDO:0056806 | -| MONDO:0857250 | lung squamous cell carcinoma, small cell variant | NCIT:C45504 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma, Small Cell Variant | | MONDO:0005056|MONDO:0005097 | -| MONDO:0857251 | lung basaloid squamous cell carcinoma | NCIT:C45507 | MONDO:equivalentTo | Lung Basaloid Squamous Cell Carcinoma | | MONDO:0003486|MONDO:0005056|MONDO:0005097 | -| MONDO:0857252 | lung spindle cell carcinoma | NCIT:C45541 | MONDO:equivalentTo | Lung Spindle Cell Carcinoma | | MONDO:0006279 | -| MONDO:0857253 | lung pleomorphic carcinoma | NCIT:C45542 | MONDO:equivalentTo | Lung Pleomorphic Carcinoma | | MONDO:0006279|MONDO:0003573 | -| MONDO:0857254 | lung carcinosarcoma | NCIT:C45543 | MONDO:equivalentTo | Lung Carcinosarcoma | | MONDO:0006279|MONDO:0002928 | -| MONDO:0857256 | lung neuroendocrine tumor g2 | NCIT:C45551 | MONDO:equivalentTo | Lung Neuroendocrine Tumor G2 | | MONDO:0006041|MONDO:0006095 | -| MONDO:0857259 | ciliary body malignant medulloepithelioma | NCIT:C4557 | MONDO:equivalentTo | Ciliary Body Malignant Medulloepithelioma | | MONDO:0017050|MONDO:0002969 | -| MONDO:0857260 | lung squamous papilloma | NCIT:C45573 | MONDO:equivalentTo | Lung Squamous Papilloma | | MONDO:0006278|MONDO:0001825 | -| MONDO:0857262 | bronchial glandular papilloma | NCIT:C45601 | MONDO:equivalentTo | Bronchial Glandular Papilloma | | MONDO:0006278|MONDO:0021078 | -| MONDO:0857263 | bronchial mixed squamous cell and glandular papilloma | NCIT:C45602 | MONDO:equivalentTo | Bronchial Mixed Squamous Cell and Glandular Papilloma | | MONDO:0021043|MONDO:0006278 | -| MONDO:0857264 | lung pleomorphic adenoma | NCIT:C45603 | MONDO:equivalentTo | Lung Pleomorphic Adenoma | | MONDO:0008401|MONDO:0003422 | -| MONDO:0857265 | lung mucinous cystadenoma | NCIT:C45604 | MONDO:equivalentTo | Lung Mucinous Cystadenoma | | MONDO:0003422|MONDO:0006859 | -| MONDO:0857267 | lung soft tissue neoplasm | NCIT:C45612 | MONDO:equivalentTo | Lung Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0021117 | -| MONDO:0857268 | malignant lung and pleural neoplasm | NCIT:C45625 | MONDO:equivalentTo | Malignant Lung and Pleural Neoplasm | | MONDO:0003274 | -| MONDO:0857270 | lung synovial sarcoma | NCIT:C45631 | MONDO:equivalentTo | Lung Synovial Sarcoma | | MONDO:0002426|MONDO:0010434 | -| MONDO:0857273 | intrapulmonary thymoma | NCIT:C45638 | MONDO:equivalentTo | Intrapulmonary Thymoma | | MONDO:0006456|MONDO:0021117 | -| MONDO:0857274 | mediastinal thymoma | NCIT:C45639 | MONDO:equivalentTo | Mediastinal Thymoma | | MONDO:0006456|MONDO:0021386 | -| MONDO:0857275 | lung melanoma | NCIT:C45652 | MONDO:equivalentTo | Lung Melanoma | | MONDO:0006320|MONDO:0008903 | -| MONDO:0857276 | pleural well differentiated papillary mesothelial tumor | NCIT:C45660 | MONDO:equivalentTo | Pleural Well Differentiated Papillary Mesothelial Tumor | | MONDO:0003308|MONDO:0003688 | -| MONDO:0857278 | pleural lymphoma | NCIT:C45687 | MONDO:equivalentTo | Pleural Lymphoma | | MONDO:0017207|MONDO:0006294 | -| MONDO:0857279 | pleural epithelioid hemangioendothelioma | NCIT:C45695 | MONDO:equivalentTo | Pleural Epithelioid Hemangioendothelioma | | MONDO:0015523|MONDO:0006294 | -| MONDO:0857280 | pleural synovial sarcoma | NCIT:C45696 | MONDO:equivalentTo | Pleural Synovial Sarcoma | | MONDO:0006294|MONDO:0010434 | -| MONDO:0857282 | micronodular thymoma with lymphoid stroma | NCIT:C45706 | MONDO:equivalentTo | Micronodular Thymoma with Lymphoid Stroma | | MONDO:0006456 | -| MONDO:0857283 | metaplastic thymoma | NCIT:C45707 | MONDO:equivalentTo | Metaplastic Thymoma | | MONDO:0006456 | -| MONDO:0857284 | microscopic thymoma | NCIT:C45708 | MONDO:equivalentTo | Microscopic Thymoma | | MONDO:0006456 | -| MONDO:0857285 | sclerosing thymoma | NCIT:C45709 | MONDO:equivalentTo | Sclerosing Thymoma | | MONDO:0006456 | -| MONDO:0857286 | malignant respiratory system neoplasm | NCIT:C4571 | MONDO:equivalentTo | Malignant Respiratory System Neoplasm | | MONDO:0020641|MONDO:0004992 | -| MONDO:0857287 | thymus lipofibroadenoma | NCIT:C45710 | MONDO:equivalentTo | Thymus Lipofibroadenoma | | MONDO:0021512 | -| MONDO:0857289 | combined thymic epithelial neoplasm | NCIT:C45722 | MONDO:equivalentTo | Combined Thymic Epithelial Neoplasm | | MONDO:0018079|MONDO:0002586 | -| MONDO:0857290 | malignant skin appendage neoplasm | NCIT:C4573 | MONDO:equivalentTo | Malignant Skin Appendage Neoplasm | | MONDO:0002297|MONDO:0002898 | -| MONDO:0857291 | mediastinal germ cell tumor with somatic-type malignancy | NCIT:C45732 | MONDO:equivalentTo | Mediastinal Germ Cell Tumor with Somatic-Type Malignancy | | MONDO:0006298 | -| MONDO:0857292 | mediastinal t lymphoblastic leukemia/lymphoma | NCIT:C45738 | MONDO:equivalentTo | Mediastinal T Lymphoblastic Leukemia/Lymphoma | | MONDO:0003537|MONDO:0005843 | -| MONDO:0857294 | mediastinal myeloid sarcoma | NCIT:C45741 | MONDO:equivalentTo | Mediastinal Myeloid Sarcoma | | MONDO:0005843|MONDO:0006861 | -| MONDO:0857295 | mediastinal paraganglioma | NCIT:C45743 | MONDO:equivalentTo | Mediastinal Paraganglioma | | MONDO:0003098|MONDO:0021052 | -| MONDO:0857296 | mediastinal solitary fibrous tumor | NCIT:C45744 | MONDO:equivalentTo | Mediastinal Solitary Fibrous Tumor | | MONDO:0016238|MONDO:0003512 | -| MONDO:0857297 | adult cardiac cellular rhabdomyoma | NCIT:C45747 | MONDO:equivalentTo | Adult Cardiac Cellular Rhabdomyoma | | MONDO:0006123 | -| MONDO:0857298 | cardiac hemangioma | NCIT:C45749 | MONDO:equivalentTo | Cardiac Hemangioma | | MONDO:0021450|MONDO:0006500 | -| MONDO:0857300 | cardiac inflammatory myofibroblastic tumor | NCIT:C45753 | MONDO:equivalentTo | Cardiac Inflammatory Myofibroblastic Tumor | | MONDO:0015798|MONDO:0021209 | -| MONDO:0857301 | cystic tumor of the atrioventricular node | NCIT:C45754 | MONDO:equivalentTo | Cystic Tumor of the Atrioventricular Node | | MONDO:0021450 | -| MONDO:0857302 | cardiac undifferentiated pleomorphic sarcoma | NCIT:C45755 | MONDO:equivalentTo | Cardiac Undifferentiated Pleomorphic Sarcoma | | MONDO:0003354|MONDO:0002142 | -| MONDO:0857303 | cardiac synovial sarcoma | NCIT:C45756 | MONDO:equivalentTo | Cardiac Synovial Sarcoma | | MONDO:0003354|MONDO:0010434 | -| MONDO:0857305 | cardiac rhabdomyosarcoma | NCIT:C45759 | MONDO:equivalentTo | Cardiac Rhabdomyosarcoma | | MONDO:0003354|MONDO:0005212 | -| MONDO:0857306 | pericardial germ cell tumor | NCIT:C45761 | MONDO:equivalentTo | Pericardial Germ Cell Tumor | | MONDO:0021381|MONDO:0018201 | -| MONDO:0857308 | corneal kaposi sarcoma | NCIT:C4579 | MONDO:equivalentTo | Corneal Kaposi Sarcoma | | MONDO:0005055|MONDO:0003802 | -| MONDO:0857310 | metastatic malignant neoplasm in the bone marrow | NCIT:C4582 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Bone Marrow | | MONDO:0024880|MONDO:0021138 | -| MONDO:0857311 | pancreatic neuroendocrine microtumor | NCIT:C45834 | MONDO:equivalentTo | Pancreatic Neuroendocrine Microtumor | | MONDO:0004334 | -| MONDO:0857315 | sellar gangliocytoma | NCIT:C45917 | MONDO:equivalentTo | Sellar Gangliocytoma | | MONDO:0016730|MONDO:0002720 | -| MONDO:0857316 | hypothalamic gangliocytoma | NCIT:C45918 | MONDO:equivalentTo | Hypothalamic Gangliocytoma | | MONDO:0016730|MONDO:0006799 | -| MONDO:0857317 | anterior pituitary gland neoplasm | NCIT:C45921 | MONDO:equivalentTo | Anterior Pituitary Gland Neoplasm | | MONDO:0017611 | -| MONDO:0857319 | densely granulated somatotroph pituitary neuroendocrine tumor | NCIT:C45925 | MONDO:equivalentTo | Densely Granulated Somatotroph Pituitary Neuroendocrine Tumor | | MONDO:0006238 | -| MONDO:0857320 | sparsely granulated somatotroph pituitary neuroendocrine tumor | NCIT:C45926 | MONDO:equivalentTo | Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor | | MONDO:0006238 | -| MONDO:0857321 | densely granulated lactotroph pituitary neuroendocrine tumor | NCIT:C45931 | MONDO:equivalentTo | Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor | | MONDO:0010911 | -| MONDO:0857322 | sparsely granulated lactotroph pituitary neuroendocrine tumor | NCIT:C45932 | MONDO:equivalentTo | Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor | | MONDO:0010911 | -| MONDO:0857324 | benign palate neoplasm | NCIT:C4599 | MONDO:equivalentTo | Benign Palate Neoplasm | | MONDO:0005286 | -| MONDO:0857325 | thyroid gland oncocytic neoplasm | NCIT:C46068 | MONDO:equivalentTo | Thyroid Gland Oncocytic Neoplasm | | MONDO:0015074|MONDO:0010795 | -| MONDO:0857326 | unilateral breast carcinoma | NCIT:C46073 | MONDO:equivalentTo | Unilateral Breast Carcinoma | | MONDO:0004989 | -| MONDO:0857327 | nonestrogen-dependent malignant neoplasm | NCIT:C46080 | MONDO:equivalentTo | Nonestrogen-Dependent Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0857330 | macrofollicular variant thyroid gland papillary carcinoma | NCIT:C46092 | MONDO:equivalentTo | Macrofollicular Variant Thyroid Gland Papillary Carcinoma | | MONDO:0005075 | -| MONDO:0857331 | clear cell variant thyroid gland papillary carcinoma | NCIT:C46094 | MONDO:equivalentTo | Clear Cell Variant Thyroid Gland Papillary Carcinoma | | MONDO:0005075|MONDO:0005004 | -| MONDO:0857333 | thyroid gland follicular carcinoma, clear cell variant | NCIT:C46096 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Clear Cell Variant | | MONDO:0005034|MONDO:0005004 | -| MONDO:0857334 | sporadic thyroid gland medullary carcinoma | NCIT:C46098 | MONDO:equivalentTo | Sporadic Thyroid Gland Medullary Carcinoma | | MONDO:0015277 | -| MONDO:0857336 | thyroid gland mixed medullary and follicular cell-derived carcinoma | NCIT:C46104 | MONDO:equivalentTo | Thyroid Gland Mixed Medullary and Follicular Cell-Derived Carcinoma | | MONDO:0015075|MONDO:0021069 | -| MONDO:0857337 | intrathyroid thymic carcinoma | NCIT:C46106 | MONDO:equivalentTo | Intrathyroid Thymic Carcinoma | | MONDO:0015075 | -| MONDO:0857338 | thyroid gland follicular adenoma with papillary hyperplasia | NCIT:C46111 | MONDO:equivalentTo | Thyroid Gland Follicular Adenoma with Papillary Hyperplasia | | MONDO:0002533|MONDO:0005032 | -| MONDO:0857339 | thyroid gland signet ring cell follicular adenoma | NCIT:C46115 | MONDO:equivalentTo | Thyroid Gland Signet Ring Cell Follicular Adenoma | | MONDO:0005032 | -| MONDO:0857340 | thyroid gland mucinous follicular adenoma | NCIT:C46116 | MONDO:equivalentTo | Thyroid Gland Mucinous Follicular Adenoma | | MONDO:0005032 | -| MONDO:0857341 | thyroid gland lipoadenoma | NCIT:C46118 | MONDO:equivalentTo | Thyroid Gland Lipoadenoma | | MONDO:0003431|MONDO:0005032 | -| MONDO:0857342 | thyroid gland clear cell follicular adenoma | NCIT:C46119 | MONDO:equivalentTo | Thyroid Gland Clear Cell Follicular Adenoma | | MONDO:0003426|MONDO:0005032 | -| MONDO:0857343 | thyroid gland hyperfunctioning adenoma | NCIT:C46122 | MONDO:equivalentTo | Thyroid Gland Hyperfunctioning Adenoma | | MONDO:0005032 | -| MONDO:0857345 | thyroid gland paraganglioma | NCIT:C46125 | MONDO:equivalentTo | Thyroid Gland Paraganglioma | | MONDO:0006239|MONDO:0015074 | -| MONDO:0857346 | benign skin appendage neoplasm | NCIT:C4615 | MONDO:equivalentTo | Benign Skin Appendage Neoplasm | | MONDO:0002297|MONDO:0021440 | -| MONDO:0857349 | pineal region germ cell tumor | NCIT:C4659 | MONDO:equivalentTo | Pineal Region Germ Cell Tumor | | MONDO:0003000|MONDO:0021232 | -| MONDO:0857356 | adenocarcinoma with metaplasia | NCIT:C4712 | MONDO:equivalentTo | Adenocarcinoma with Metaplasia | | MONDO:0004970 | -| MONDO:0857357 | atypical meningioma | NCIT:C4723 | MONDO:equivalentTo | Atypical Meningioma | | MONDO:0045056 | -| MONDO:0857358 | neoplasm by morphology | NCIT:C4741 | MONDO:equivalentTo | Neoplasm by Morphology | | MONDO:0005070 | -| MONDO:0857359 | benign squamous cell neoplasm | NCIT:C4742 | MONDO:equivalentTo | Benign Squamous Cell Neoplasm | | MONDO:0036976|MONDO:0002532 | -| MONDO:0857360 | skin cavernous hemangioma | NCIT:C4750 | MONDO:equivalentTo | Skin Cavernous Hemangioma | | MONDO:0003110|MONDO:0003155 | -| MONDO:0857361 | malignant olfactory nerve neoplasm | NCIT:C4768 | MONDO:equivalentTo | Malignant Olfactory Nerve Neoplasm | | MONDO:0002722|MONDO:0002433 | -| MONDO:0857362 | benign extrahepatic bile duct neoplasm | NCIT:C4776 | MONDO:equivalentTo | Benign Extrahepatic Bile Duct Neoplasm | | MONDO:0000385|MONDO:0021385 | -| MONDO:0857363 | breast carcinoma with chondroid metaplasia | NCIT:C47847 | MONDO:equivalentTo | Breast Carcinoma with Chondroid Metaplasia | | MONDO:0004274 | -| MONDO:0857364 | breast carcinoma with osseous metaplasia | NCIT:C47848 | MONDO:equivalentTo | Breast Carcinoma with Osseous Metaplasia | | MONDO:0004274 | -| MONDO:0857365 | breast paget disease without invasive carcinoma | NCIT:C47858 | MONDO:equivalentTo | Breast Paget Disease without Invasive Carcinoma | | MONDO:0002648 | -| MONDO:0857366 | breast hyperplasia | NCIT:C4804 | MONDO:equivalentTo | Breast Hyperplasia | | MONDO:0005043|MONDO:0021100 | -| MONDO:0857367 | malignant odontogenic neoplasm | NCIT:C4812 | MONDO:equivalentTo | Malignant Odontogenic Neoplasm | | MONDO:0021192|MONDO:0005515 | -| MONDO:0857369 | tongue carcinoma | NCIT:C4824 | MONDO:equivalentTo | Tongue Carcinoma | | MONDO:0004631|MONDO:0044925 | -| MONDO:0857370 | parathyroid gland lipoadenoma | NCIT:C48283 | MONDO:equivalentTo | Parathyroid Gland Lipoadenoma | | MONDO:0003431|MONDO:0006890 | -| MONDO:0857371 | atypical parathyroid gland tumor | NCIT:C48285 | MONDO:equivalentTo | Atypical Parathyroid Gland Tumor | | MONDO:0021360 | -| MONDO:0857375 | non-metastatic paraganglioma | NCIT:C48314 | MONDO:equivalentTo | Non-Metastatic Paraganglioma | | MONDO:0000448 | -| MONDO:0857376 | nasopharyngeal paraganglioma | NCIT:C48316 | MONDO:equivalentTo | Nasopharyngeal Paraganglioma | | MONDO:0006239|MONDO:0005375 | -| MONDO:0857377 | primary bone osteosarcoma | NCIT:C4834 | MONDO:equivalentTo | Primary Bone Osteosarcoma | | MONDO:0002629 | -| MONDO:0857378 | adrenal cortical oncocytic adenoma | NCIT:C48447 | MONDO:equivalentTo | Adrenal Cortical Oncocytic Adenoma | | MONDO:0003924|MONDO:0003424 | -| MONDO:0857379 | androgen-producing adrenal cortical adenoma | NCIT:C48454 | MONDO:equivalentTo | Androgen-Producing Adrenal Cortical Adenoma | | MONDO:0006408 | -| MONDO:0857380 | estrogen-producing adrenal cortical adenoma | NCIT:C48456 | MONDO:equivalentTo | Estrogen-Producing Adrenal Cortical Adenoma | | MONDO:0006408 | -| MONDO:0857382 | invasive prostate carcinoma | NCIT:C48596 | MONDO:equivalentTo | Invasive Prostate Carcinoma | | MONDO:0040677|MONDO:0005159 | -| MONDO:0857383 | minimal deviation melanoma | NCIT:C48612 | MONDO:equivalentTo | Minimal Deviation Melanoma | | MONDO:0005012 | -| MONDO:0857384 | melanoma arising in congenital melanocytic nevus | NCIT:C48613 | MONDO:equivalentTo | Melanoma Arising in Congenital Melanocytic Nevus | | MONDO:0005012 | -| MONDO:0857385 | desmoplastic neurotropic melanoma | NCIT:C48614 | MONDO:equivalentTo | Desmoplastic Neurotropic Melanoma | | MONDO:0044785 | -| MONDO:0857386 | mucosal lentiginous melanoma | NCIT:C48622 | MONDO:equivalentTo | Mucosal Lentiginous Melanoma | | MONDO:0000544 | -| MONDO:0857388 | metastatic malignant neoplasm in the trachea | NCIT:C4887 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Trachea | | MONDO:0001407|MONDO:0024880 | -| MONDO:0857389 | splenic lymphoma | NCIT:C48873 | MONDO:equivalentTo | Splenic Lymphoma | | MONDO:0017207|MONDO:0005966 | -| MONDO:0857390 | dedifferentiated chordoma | NCIT:C48876 | MONDO:equivalentTo | Dedifferentiated Chordoma | | MONDO:0008978 | -| MONDO:0857391 | benign lung hilum neoplasm | NCIT:C4888 | MONDO:equivalentTo | Benign Lung Hilum Neoplasm | | MONDO:0003639|MONDO:0002732 | -| MONDO:0857393 | hiv lipodystrophy | NCIT:C48899 | MONDO:equivalentTo | HIV Lipodystrophy | | MONDO:0006573|MONDO:0006574 | -| MONDO:0857394 | gardner fibroma | NCIT:C49017 | MONDO:equivalentTo | Gardner Fibroma | | MONDO:0005167 | -| MONDO:0857397 | skin fibrous histiocytoma, fibroblastic variant | NCIT:C49076 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Fibroblastic Variant | | MONDO:0006717 | -| MONDO:0857398 | skin fibrous histiocytoma, histiocytic variant | NCIT:C49077 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Histiocytic Variant | | MONDO:0006717 | -| MONDO:0857399 | skin fibrous histiocytoma, cellular variant | NCIT:C49078 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Cellular Variant | | MONDO:0006717 | -| MONDO:0857400 | skin fibrous histiocytoma, epithelioid variant | NCIT:C49079 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Epithelioid Variant | | MONDO:0006717 | -| MONDO:0857401 | solid angioleiomyoma | NCIT:C49110 | MONDO:equivalentTo | Solid Angioleiomyoma | | MONDO:0006646 | -| MONDO:0857402 | venous angioleiomyoma | NCIT:C49111 | MONDO:equivalentTo | Venous Angioleiomyoma | | MONDO:0006646 | -| MONDO:0857403 | cavernous angioleiomyoma | NCIT:C49115 | MONDO:equivalentTo | Cavernous Angioleiomyoma | | MONDO:0006646 | -| MONDO:0857404 | conventional cardiac rhabdomyoma | NCIT:C49179 | MONDO:equivalentTo | Conventional Cardiac Rhabdomyoma | | MONDO:0006123 | -| MONDO:0857405 | anaplastic embryonal rhabdomyosarcoma | NCIT:C49204 | MONDO:equivalentTo | Anaplastic Embryonal Rhabdomyosarcoma | | MONDO:0009993 | -| MONDO:0857407 | duodenal adenoma | NCIT:C4932 | MONDO:equivalentTo | Duodenal Adenoma | | MONDO:0021303|MONDO:0006734 | -| MONDO:0857409 | benign lymphoproliferative disorder | NCIT:C4939 | MONDO:equivalentTo | Benign Lymphoproliferative Disorder | | | -| MONDO:0857412 | intracranial neoplasm | NCIT:C4953 | MONDO:equivalentTo | Intracranial Neoplasm | | MONDO:0006130 | -| MONDO:0857413 | leptomeningeal neoplasm | NCIT:C4958 | MONDO:equivalentTo | Leptomeningeal Neoplasm | | MONDO:0016743 | -| MONDO:0857415 | benign infratentorial neoplasm | NCIT:C4965 | MONDO:equivalentTo | Benign Infratentorial Neoplasm | | MONDO:0021451|MONDO:0037736 | -| MONDO:0857417 | primary brain stem neoplasm | NCIT:C4975 | MONDO:equivalentTo | Primary Brain Stem Neoplasm | | MONDO:0021228|MONDO:0021632 | -| MONDO:0857419 | carcinoma unspecified site | NCIT:C4979 | MONDO:equivalentTo | Carcinoma Unspecified Site | | MONDO:0004993 | -| MONDO:0857430 | verrucous lesion | NCIT:C5028 | MONDO:equivalentTo | Verrucous Lesion | | MONDO:0002532 | -| MONDO:0857438 | primary cerebral diffuse large b-cell lymphoma | NCIT:C5054 | MONDO:equivalentTo | Primary Cerebral Diffuse Large B-Cell Lymphoma | | MONDO:0003655|MONDO:0017596 | -| MONDO:0857466 | renomedullary interstitial cell tumor | NCIT:C5100 | MONDO:equivalentTo | Renomedullary Interstitial Cell Tumor | | MONDO:0002513 | -| MONDO:0857469 | solid glomus tumor | NCIT:C51133 | MONDO:equivalentTo | Solid Glomus Tumor | | MONDO:0018327 | -| MONDO:0857473 | adult central nervous system neoplasm | NCIT:C5131 | MONDO:equivalentTo | Adult Central Nervous System Neoplasm | | MONDO:0006130 | -| MONDO:0857476 | breast ductal carcinoma in situ, non-comedo type | NCIT:C5137 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Non-Comedo Type | | MONDO:0005023 | -| MONDO:0857477 | invasive breast cribriform carcinoma | NCIT:C5142 | MONDO:equivalentTo | Invasive Breast Cribriform Carcinoma | | MONDO:0006256|MONDO:0004988|MONDO:0006176 | -| MONDO:0857478 | malignant breast adenomyoepithelioma | NCIT:C5143 | MONDO:equivalentTo | Malignant Breast Adenomyoepithelioma | | MONDO:0007254|MONDO:0002066 | -| MONDO:0857479 | infratentorial glioblastoma | NCIT:C5148 | MONDO:equivalentTo | Infratentorial Glioblastoma | | MONDO:0003107|MONDO:0002501 | -| MONDO:0857480 | supratentorial glioblastoma | NCIT:C5149 | MONDO:equivalentTo | Supratentorial Glioblastoma | | MONDO:0002071|MONDO:0002501 | -| MONDO:0857482 | breast high grade mucoepidermoid carcinoma | NCIT:C5167 | MONDO:equivalentTo | Breast High Grade Mucoepidermoid Carcinoma | | MONDO:0003087 | -| MONDO:0857483 | breast low grade mucoepidermoid carcinoma | NCIT:C5168 | MONDO:equivalentTo | Breast Low Grade Mucoepidermoid Carcinoma | | MONDO:0003087 | -| MONDO:0857486 | breast non-hodgkin lymphoma | NCIT:C5181 | MONDO:equivalentTo | Breast Non-Hodgkin Lymphoma | | MONDO:0003661|MONDO:0018908 | -| MONDO:0857487 | breast complex fibroadenoma | NCIT:C5194 | MONDO:equivalentTo | Breast Complex Fibroadenoma | | MONDO:0002056 | -| MONDO:0857488 | benign nipple neoplasm | NCIT:C5197 | MONDO:equivalentTo | Benign Nipple Neoplasm | | MONDO:0002482|MONDO:0000620 | -| MONDO:0857490 | breast papillary neoplasm | NCIT:C5206 | MONDO:equivalentTo | Breast Papillary Neoplasm | | MONDO:0021096|MONDO:0021100 | -| MONDO:0857492 | malignant nipple neoplasm | NCIT:C5213 | MONDO:equivalentTo | Malignant Nipple Neoplasm | | MONDO:0007254|MONDO:0002482 | -| MONDO:0857493 | benign ovarian thecoma | NCIT:C5219 | MONDO:equivalentTo | Benign Ovarian Thecoma | | MONDO:0024387|MONDO:0037253 | -| MONDO:0857496 | ovarian soft tissue neoplasm | NCIT:C5244 | MONDO:equivalentTo | Ovarian Soft Tissue Neoplasm | | MONDO:0021068|MONDO:0006424 | -| MONDO:0857498 | gastric burkitt lymphoma | NCIT:C5251 | MONDO:equivalentTo | Gastric Burkitt Lymphoma | | MONDO:0007243|MONDO:0042493 | -| MONDO:0857499 | gastric t-cell non-hodgkin lymphoma | NCIT:C5254 | MONDO:equivalentTo | Gastric T-Cell Non-Hodgkin Lymphoma | | MONDO:0015760|MONDO:0042493 | -| MONDO:0857502 | deletion of the short arm of chromosome 1 (1p) associated meningioma | NCIT:C5294 | MONDO:equivalentTo | Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma | | MONDO:0016642 | -| MONDO:0857503 | deletion of chromosome 22 associated meningioma | NCIT:C5305 | MONDO:equivalentTo | Deletion of Chromosome 22 Associated Meningioma | | MONDO:0016642 | -| MONDO:0857504 | deletion of chromosome 3p associated meningioma | NCIT:C5306 | MONDO:equivalentTo | Deletion of Chromosome 3p Associated Meningioma | | MONDO:0016642 | -| MONDO:0857507 | extra-adrenal retroperitoneal paraganglioma | NCIT:C5328 | MONDO:equivalentTo | Extra-Adrenal Retroperitoneal Paraganglioma | | MONDO:0000550|MONDO:0024645 | -| MONDO:0857508 | hereditary paraganglioma | NCIT:C5329 | MONDO:equivalentTo | Hereditary Paraganglioma | | MONDO:0000448 | -| MONDO:0857513 | great vessel neoplasm | NCIT:C5348 | MONDO:equivalentTo | Great Vessel Neoplasm | | MONDO:0024757 | -| MONDO:0857514 | mesenchymal chondrosarcoma of bone | NCIT:C53493 | MONDO:equivalentTo | Mesenchymal Chondrosarcoma of Bone | | MONDO:0021054|MONDO:0006853 | -| MONDO:0857518 | cardiac schwannoma | NCIT:C5358 | MONDO:equivalentTo | Cardiac Schwannoma | | MONDO:0004820|MONDO:0021450 | -| MONDO:0857519 | cardiac epithelioid hemangioendothelioma | NCIT:C5362 | MONDO:equivalentTo | Cardiac Epithelioid Hemangioendothelioma | | MONDO:0015523|MONDO:0001340 | -| MONDO:0857520 | cardiac kaposi sarcoma | NCIT:C5363 | MONDO:equivalentTo | Cardiac Kaposi Sarcoma | | MONDO:0005055|MONDO:0003354 | -| MONDO:0857524 | cardiac myeloid sarcoma | NCIT:C5370 | MONDO:equivalentTo | Cardiac Myeloid Sarcoma | | MONDO:0001340|MONDO:0006861 | -| MONDO:0857525 | secondary osteosarcoma | NCIT:C53704 | MONDO:equivalentTo | Secondary Osteosarcoma | | MONDO:0002629|MONDO:0024881 | -| MONDO:0857526 | malignant inferior vena cava neoplasm | NCIT:C5377 | MONDO:equivalentTo | Malignant Inferior Vena Cava Neoplasm | | MONDO:0040676 | -| MONDO:0857527 | malignant superior vena cava neoplasm | NCIT:C5379 | MONDO:equivalentTo | Malignant Superior Vena Cava Neoplasm | | MONDO:0040676 | -| MONDO:0857528 | malignant pulmonary artery neoplasm | NCIT:C5380 | MONDO:equivalentTo | Malignant Pulmonary Artery Neoplasm | | MONDO:0040676 | -| MONDO:0857529 | malignant pulmonary vein neoplasm | NCIT:C5383 | MONDO:equivalentTo | Malignant Pulmonary Vein Neoplasm | | MONDO:0040676 | -| MONDO:0857532 | leiomyosarcoma of vessels | NCIT:C5387 | MONDO:equivalentTo | Leiomyosarcoma of Vessels | | MONDO:0005058 | -| MONDO:0857533 | benign atrial neoplasm | NCIT:C5389 | MONDO:equivalentTo | Benign Atrial Neoplasm | | MONDO:0021450 | -| MONDO:0857535 | solitary adult fibroma | NCIT:C5394 | MONDO:equivalentTo | Solitary Adult Fibroma | | MONDO:0005167 | -| MONDO:0857536 | fibrous histiocytoma of bone | NCIT:C53963 | MONDO:equivalentTo | Fibrous Histiocytoma of Bone | | MONDO:0000631|MONDO:0002989 | -| MONDO:0857537 | bone leiomyoma | NCIT:C53964 | MONDO:equivalentTo | Bone Leiomyoma | | MONDO:0001572 | -| MONDO:0857542 | benign gastrointestinal stromal tumor | NCIT:C53998 | MONDO:equivalentTo | Benign Gastrointestinal Stromal Tumor | | MONDO:0044335|MONDO:0011719 | -| MONDO:0857543 | malignant gastrointestinal stromal tumor | NCIT:C53999 | MONDO:equivalentTo | Malignant Gastrointestinal Stromal Tumor | | MONDO:0011719|MONDO:0044337 | -| MONDO:0857546 | region 17p13 allelic loss associated medulloblastoma | NCIT:C5402 | MONDO:equivalentTo | Region 17p13 Allelic Loss Associated Medulloblastoma | | MONDO:0007959 | -| MONDO:0857547 | nevoid basal cell carcinoma syndrome associated medulloblastoma | NCIT:C5405 | MONDO:equivalentTo | Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma | | MONDO:0007959 | -| MONDO:0857548 | central nervous system t-cell non-hodgkin lymphoma | NCIT:C5409 | MONDO:equivalentTo | Central Nervous System T-Cell Non-Hodgkin Lymphoma | | MONDO:0015760|MONDO:0044887 | -| MONDO:0857549 | gastric granular cell tumor | NCIT:C54094 | MONDO:equivalentTo | Gastric Granular Cell Tumor | | MONDO:0006235|MONDO:0021085 | -| MONDO:0857550 | malignant central nervous system germ cell tumor | NCIT:C54099 | MONDO:equivalentTo | Malignant Central Nervous System Germ Cell Tumor | | MONDO:0003113|MONDO:0003000|MONDO:0002714 | -| MONDO:0857552 | breast columnar cell lesion | NCIT:C54180 | MONDO:equivalentTo | Breast Columnar Cell Lesion | | MONDO:0021100 | -| MONDO:0857556 | head and neck keratinizing squamous cell carcinoma | NCIT:C54283 | MONDO:equivalentTo | Head and Neck Keratinizing Squamous Cell Carcinoma | | MONDO:0005056|MONDO:0010150 | -| MONDO:0857559 | metastasizing ameloblastoma | NCIT:C54297 | MONDO:equivalentTo | Metastasizing Ameloblastoma | | MONDO:0024883|MONDO:0017795 | -| MONDO:0857562 | lipomatosis of nerve | NCIT:C5431 | MONDO:equivalentTo | Lipomatosis of Nerve | | MONDO:0000648|MONDO:0001406|MONDO:0006574 | -| MONDO:0857564 | laryngeal papillary squamous cell carcinoma | NCIT:C54335 | MONDO:equivalentTo | Laryngeal Papillary Squamous Cell Carcinoma | | MONDO:0002979|MONDO:0005595 | -| MONDO:0857565 | laryngeal spindle cell squamous carcinoma | NCIT:C54336 | MONDO:equivalentTo | Laryngeal Spindle Cell Squamous Carcinoma | | MONDO:0005595|MONDO:0021663 | -| MONDO:0857566 | laryngeal acantholytic squamous cell carcinoma | NCIT:C54337 | MONDO:equivalentTo | Laryngeal Acantholytic Squamous Cell Carcinoma | | MONDO:0003487|MONDO:0005595 | -| MONDO:0857567 | laryngeal adenosquamous carcinoma | NCIT:C54338 | MONDO:equivalentTo | Laryngeal Adenosquamous Carcinoma | | MONDO:0002358|MONDO:0006074 | -| MONDO:0857568 | laryngeal undifferentiated carcinoma | NCIT:C54339 | MONDO:equivalentTo | Laryngeal Undifferentiated Carcinoma | | MONDO:0002358|MONDO:0005617 | -| MONDO:0857570 | kadish stage c olfactory neuroblastoma | NCIT:C5435 | MONDO:equivalentTo | Kadish Stage C Olfactory Neuroblastoma | | MONDO:0006329 | -| MONDO:0857571 | drop metastasis in the spinal cord | NCIT:C5439 | MONDO:equivalentTo | Drop Metastasis in the Spinal Cord | | MONDO:0044912 | -| MONDO:0857572 | nasopharyngeal low grade papillary adenocarcinoma | NCIT:C54400 | MONDO:equivalentTo | Nasopharyngeal Low Grade Papillary Adenocarcinoma | | MONDO:0015459|MONDO:0002512 | -| MONDO:0857574 | meningeal gliomatosis | NCIT:C5446 | MONDO:equivalentTo | Meningeal Gliomatosis | | MONDO:0100342|MONDO:0021322 | -| MONDO:0857575 | invasive breast apocrine carcinoma | NCIT:C5457 | MONDO:equivalentTo | Invasive Breast Apocrine Carcinoma | | MONDO:0006256|MONDO:0003934 | -| MONDO:0857576 | breast nevus | NCIT:C54658 | MONDO:equivalentTo | Breast Nevus | | MONDO:0044794|MONDO:0000620 | -| MONDO:0857577 | acral nevus | NCIT:C54659 | MONDO:equivalentTo | Acral Nevus | | MONDO:0044794 | -| MONDO:0857578 | flexural skin nevus | NCIT:C54660 | MONDO:equivalentTo | Flexural Skin Nevus | | MONDO:0044794 | -| MONDO:0857580 | nevoid melanoma | NCIT:C54662 | MONDO:equivalentTo | Nevoid Melanoma | | MONDO:0005012 | -| MONDO:0857581 | signet ring melanoma | NCIT:C54663 | MONDO:equivalentTo | Signet Ring Melanoma | | MONDO:0005012 | -| MONDO:0857583 | invasive breast lobular carcinoma, signet ring variant | NCIT:C54691 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Signet Ring Variant | | MONDO:0005051|MONDO:0002671 | -| MONDO:0857587 | central nervous system dermoid cyst | NCIT:C5508 | MONDO:equivalentTo | Central Nervous System Dermoid Cyst | | MONDO:0002378|MONDO:0003733 | -| MONDO:0857589 | appendix mucinous cystadenoma | NCIT:C5510 | MONDO:equivalentTo | Appendix Mucinous Cystadenoma | | MONDO:0006088|MONDO:0006859 | -| MONDO:0857592 | prostate kaposi sarcoma | NCIT:C5523 | MONDO:equivalentTo | Prostate Kaposi Sarcoma | | MONDO:0005055|MONDO:0002854 | -| MONDO:0857593 | prostate myeloid sarcoma | NCIT:C5527 | MONDO:equivalentTo | Prostate Myeloid Sarcoma | | MONDO:0008315|MONDO:0006861 | -| MONDO:0857595 | prostate non-hodgkin lymphoma | NCIT:C5534 | MONDO:equivalentTo | Prostate Non-Hodgkin Lymphoma | | MONDO:0000996|MONDO:0018908 | -| MONDO:0857596 | ceruminous neoplasm | NCIT:C5558 | MONDO:equivalentTo | Ceruminous Neoplasm | | MONDO:0003686|MONDO:0021235 | -| MONDO:0857599 | stage i skin cancer | NCIT:C5581 | MONDO:equivalentTo | Stage I Skin Cancer | | MONDO:0002656 | -| MONDO:0857600 | stage ii skin cancer | NCIT:C5582 | MONDO:equivalentTo | Stage II Skin Cancer | | MONDO:0002656 | -| MONDO:0857601 | stage iii skin cancer | NCIT:C5583 | MONDO:equivalentTo | Stage III Skin Cancer | | MONDO:0002656 | -| MONDO:0857602 | stage iv skin cancer | NCIT:C5584 | MONDO:equivalentTo | Stage IV Skin Cancer | | MONDO:0002656 | -| MONDO:0857604 | jugular foramen neoplasm | NCIT:C5589 | MONDO:equivalentTo | Jugular Foramen Neoplasm | | MONDO:0021351 | -| MONDO:0857607 | benign anal granular cell tumor | NCIT:C5607 | MONDO:equivalentTo | Benign Anal Granular Cell Tumor | | MONDO:0021469|MONDO:0003250 | -| MONDO:0857611 | metastatic malignant neoplasm in the skin | NCIT:C5629 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Skin | | MONDO:0002898|MONDO:0024880 | -| MONDO:0857613 | occult lung carcinoma | NCIT:C5641 | MONDO:equivalentTo | Occult Lung Carcinoma | | MONDO:0005138 | -| MONDO:0857614 | endobronchial hamartoma | NCIT:C5662 | MONDO:equivalentTo | Endobronchial Hamartoma | | MONDO:0021540 | -| MONDO:0857615 | multiple pulmonary hamartomas | NCIT:C5663 | MONDO:equivalentTo | Multiple Pulmonary Hamartomas | | MONDO:0021540 | -| MONDO:0857619 | colorectal adenoma with severe dysplasia | NCIT:C5685 | MONDO:equivalentTo | Colorectal Adenoma with Severe Dysplasia | | MONDO:0005484 | -| MONDO:0857623 | esophageal schwannoma | NCIT:C5703 | MONDO:equivalentTo | Esophageal Schwannoma | | MONDO:0004820|MONDO:0021459 | -| MONDO:0857629 | extrahepatic bile duct undifferentiated carcinoma | NCIT:C5780 | MONDO:equivalentTo | Extrahepatic Bile Duct Undifferentiated Carcinoma | | MONDO:0003090|MONDO:0005617 | -| MONDO:0857635 | esophageal neuroendocrine neoplasm | NCIT:C5821 | MONDO:equivalentTo | Esophageal Neuroendocrine Neoplasm | | MONDO:0021355|MONDO:0024503 | -| MONDO:0857638 | extrahepatic bile duct tubular adenoma | NCIT:C5850 | MONDO:equivalentTo | Extrahepatic Bile Duct Tubular Adenoma | | MONDO:0003445|MONDO:0024660 | -| MONDO:0857646 | oral cavity granular cell tumor | NCIT:C5912 | MONDO:equivalentTo | Oral Cavity Granular Cell Tumor | | MONDO:0021245|MONDO:0006235 | -| MONDO:0857647 | oral cavity adenoma | NCIT:C5913 | MONDO:equivalentTo | Oral Cavity Adenoma | | MONDO:0021445|MONDO:0036976|MONDO:0004972 | -| MONDO:0857648 | oral cavity adenocarcinoma | NCIT:C5914 | MONDO:equivalentTo | Oral Cavity Adenocarcinoma | | MONDO:0044925|MONDO:0004970 | -| MONDO:0857660 | minor salivary gland mucoepidermoid carcinoma | NCIT:C5953 | MONDO:equivalentTo | Minor Salivary Gland Mucoepidermoid Carcinoma | | MONDO:0045069|MONDO:0021009 | -| MONDO:0857661 | minor salivary gland small cell neuroendocrine carcinoma | NCIT:C5956 | MONDO:equivalentTo | Minor Salivary Gland Small Cell Neuroendocrine Carcinoma | | MONDO:0045069|MONDO:0006405 | -| MONDO:0857663 | minor salivary gland squamous cell carcinoma | NCIT:C5959 | MONDO:equivalentTo | Minor Salivary Gland Squamous Cell Carcinoma | | MONDO:0044740|MONDO:0045069 | -| MONDO:0857671 | oropharyngeal polyp | NCIT:C5988 | MONDO:equivalentTo | Oropharyngeal Polyp | | MONDO:0021479|MONDO:0005079 | -| MONDO:0857679 | lung mature b-cell neoplasm | NCIT:C60310 | MONDO:equivalentTo | Lung Mature B-Cell Neoplasm | | MONDO:0021117|MONDO:0004949 | -| MONDO:0857682 | nasopharyngeal polyp | NCIT:C6034 | MONDO:equivalentTo | Nasopharyngeal Polyp | | MONDO:0021478|MONDO:0005079 | -| MONDO:0857683 | stage 0 nasopharyngeal undifferentiated carcinoma ajcc v6, v7, and v8 | NCIT:C6035 | MONDO:equivalentTo | Stage 0 Nasopharyngeal Undifferentiated Carcinoma AJCC v6, v7, and v8 | | MONDO:0021297|MONDO:0021537 | -| MONDO:0857685 | nasopharyngeal squamous papilloma | NCIT:C6037 | MONDO:equivalentTo | Nasopharyngeal Squamous Papilloma | | MONDO:0001825|MONDO:0021478 | -| MONDO:0857686 | oropharyngeal squamous papilloma | NCIT:C6038 | MONDO:equivalentTo | Oropharyngeal Squamous Papilloma | | MONDO:0021479|MONDO:0001825 | -| MONDO:0857687 | stage 0 oropharyngeal squamous cell carcinoma ajcc v6 and v7 | NCIT:C6039 | MONDO:equivalentTo | Stage 0 Oropharyngeal Squamous Cell Carcinoma AJCC v6 and v7 | | MONDO:0044704|MONDO:0021298 | -| MONDO:0857689 | stage 0 hypopharyngeal squamous cell carcinoma ajcc v6, v7, and v8 | NCIT:C6048 | MONDO:equivalentTo | Stage 0 Hypopharyngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 | | MONDO:0021288|MONDO:0044638 | -| MONDO:0857690 | stage 0 oral cavity squamous cell carcinoma ajcc v6 and v7 | NCIT:C6052 | MONDO:equivalentTo | Stage 0 Oral Cavity Squamous Cell Carcinoma AJCC v6 and v7 | | MONDO:0004958|MONDO:0000371|MONDO:0004693 | -| MONDO:0857692 | anterior tongue neoplasm | NCIT:C6062 | MONDO:equivalentTo | Anterior Tongue Neoplasm | | MONDO:0021240 | -| MONDO:0857697 | neck carcinoma | NCIT:C6077 | MONDO:equivalentTo | Neck Carcinoma | | MONDO:0021310|MONDO:0002038 | -| MONDO:0857698 | external ear actinic keratosis | NCIT:C6080 | MONDO:equivalentTo | External Ear Actinic Keratosis | | MONDO:0021235|MONDO:0005173 | -| MONDO:0857700 | middle ear paraganglioma | NCIT:C6085 | MONDO:equivalentTo | Middle Ear Paraganglioma | | MONDO:0021366|MONDO:0021064 | -| MONDO:0857702 | benign uveal neoplasm | NCIT:C6104 | MONDO:equivalentTo | Benign Uveal Neoplasm | | MONDO:0021454|MONDO:0021225 | -| MONDO:0857703 | stage 0 laryngeal squamous cell carcinoma ajcc v6, v7, and v8 | NCIT:C6121 | MONDO:equivalentTo | Stage 0 Laryngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 | | MONDO:0004696|MONDO:0005595|MONDO:0004693 | -| MONDO:0857715 | testicular typical seminoma | NCIT:C61383 | MONDO:equivalentTo | Testicular Typical Seminoma | | MONDO:0003669 | -| MONDO:0857719 | ureter undifferentiated carcinoma | NCIT:C6159 | MONDO:equivalentTo | Ureter Undifferentiated Carcinoma | | MONDO:0006481|MONDO:0005617 | -| MONDO:0857720 | urethral undifferentiated carcinoma | NCIT:C6168 | MONDO:equivalentTo | Urethral Undifferentiated Carcinoma | | MONDO:0021327|MONDO:0005617 | -| MONDO:0857725 | hard palate mucoepidermoid carcinoma | NCIT:C6214 | MONDO:equivalentTo | Hard Palate Mucoepidermoid Carcinoma | | MONDO:0021339|MONDO:0044964 | -| MONDO:0857728 | salivary gland clear cell carcinoma | NCIT:C62191 | MONDO:equivalentTo | Salivary Gland Clear Cell Carcinoma | | MONDO:0000521 | -| MONDO:0857729 | breast tubular adenoma | NCIT:C62210 | MONDO:equivalentTo | Breast Tubular Adenoma | | MONDO:0002058 | -| MONDO:0857730 | conjunctival squamous papilloma | NCIT:C6224 | MONDO:equivalentTo | Conjunctival Squamous Papilloma | | MONDO:0001825|MONDO:0006105 | -| MONDO:0857731 | skin nodular basal cell carcinoma | NCIT:C62282 | MONDO:equivalentTo | Skin Nodular Basal Cell Carcinoma | | MONDO:0005341 | -| MONDO:0857732 | superficial basal cell carcinoma | NCIT:C62284 | MONDO:equivalentTo | Superficial Basal Cell Carcinoma | | MONDO:0005341 | -| MONDO:0857734 | minor salivary gland acinic cell carcinoma | NCIT:C6243 | MONDO:equivalentTo | Minor Salivary Gland Acinic Cell Carcinoma | | MONDO:0006400|MONDO:0006304 | -| MONDO:0857736 | ovarian endometrioid tumor | NCIT:C6257 | MONDO:equivalentTo | Ovarian Endometrioid Tumor | | MONDO:0002480|MONDO:0002229 | -| MONDO:0857738 | childhood cerebral ependymoma, not otherwise specified | NCIT:C6268 | MONDO:equivalentTo | Childhood Cerebral Ependymoma, Not Otherwise Specified | | MONDO:0004249 | -| MONDO:0857739 | fallopian tube undifferentiated carcinoma | NCIT:C6281 | MONDO:equivalentTo | Fallopian Tube Undifferentiated Carcinoma | | MONDO:0006206|MONDO:0005617 | -| MONDO:0857740 | vaginal verrucous carcinoma | NCIT:C6325 | MONDO:equivalentTo | Vaginal Verrucous Carcinoma | | MONDO:0006006|MONDO:0006490 | -| MONDO:0857743 | benign uterine corpus mixed epithelial and mesenchymal neoplasm | NCIT:C6335 | MONDO:equivalentTo | Benign Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm | | MONDO:0016255|MONDO:0021525 | -| MONDO:0857744 | cervical undifferentiated carcinoma | NCIT:C6345 | MONDO:equivalentTo | Cervical Undifferentiated Carcinoma | | MONDO:0005131|MONDO:0005617 | -| MONDO:0857745 | testicular mixed embryonal carcinoma and seminoma | NCIT:C6350 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Seminoma | | MONDO:0003120 | -| MONDO:0857746 | testicular mixed embryonal carcinoma and teratoma | NCIT:C6351 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Teratoma | | MONDO:0003120|MONDO:0003403|MONDO:0002599 | -| MONDO:0857747 | testicular mixed embryonal carcinoma and teratoma with seminoma | NCIT:C6352 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Teratoma with Seminoma | | MONDO:0003120 | -| MONDO:0857748 | kidney lymphoma | NCIT:C63532 | MONDO:equivalentTo | Kidney Lymphoma | | MONDO:0002367|MONDO:0017207 | -| MONDO:0857750 | testicular mature teratoma | NCIT:C6355 | MONDO:equivalentTo | Testicular Mature Teratoma | | MONDO:0003517|MONDO:0018193|MONDO:0021447 | -| MONDO:0857752 | undifferentiated carcinoma with osteoclast-like giant cells | NCIT:C63622 | MONDO:equivalentTo | Undifferentiated Carcinoma with Osteoclast-Like Giant Cells | | MONDO:0005617 | -| MONDO:0857753 | penile kaposi sarcoma | NCIT:C6377 | MONDO:equivalentTo | Penile Kaposi Sarcoma | | MONDO:0005055|MONDO:0001387|MONDO:0022293 | -| MONDO:0857758 | orbit paraganglioma | NCIT:C6408 | MONDO:equivalentTo | Orbit Paraganglioma | | MONDO:0006239|MONDO:0024611 | -| MONDO:0857759 | laryngeal paraganglioma | NCIT:C6409 | MONDO:equivalentTo | Laryngeal Paraganglioma | | MONDO:0015070|MONDO:0006239|MONDO:0021052 | -| MONDO:0857760 | intrathoracic paravertebral paraganglioma | NCIT:C6411 | MONDO:equivalentTo | Intrathoracic Paravertebral Paraganglioma | | MONDO:0000550|MONDO:0021350 | -| MONDO:0857763 | foregut neuroendocrine tumor | NCIT:C6421 | MONDO:equivalentTo | Foregut Neuroendocrine Tumor | | MONDO:0000386 | -| MONDO:0857765 | hindgut neuroendocrine tumor | NCIT:C6423 | MONDO:equivalentTo | Hindgut Neuroendocrine Tumor | | MONDO:0000386 | -| MONDO:0857767 | malignant mediastinal nongerminomatous germ cell tumor | NCIT:C6439 | MONDO:equivalentTo | Malignant Mediastinal Nongerminomatous Germ Cell Tumor | | MONDO:0003578|MONDO:0006298 | -| MONDO:0857768 | gastric germ cell tumor | NCIT:C6448 | MONDO:equivalentTo | Gastric Germ Cell Tumor | | MONDO:0018201|MONDO:0021085 | -| MONDO:0857769 | benign germ cell tumor | NCIT:C6449 | MONDO:equivalentTo | Benign Germ Cell Tumor | | MONDO:0005040|MONDO:0005165 | -| MONDO:0857770 | invasive thymoma | NCIT:C6453 | MONDO:equivalentTo | Invasive Thymoma | | MONDO:0006456 | -| MONDO:0857771 | bone hemangioma | NCIT:C6477 | MONDO:equivalentTo | Bone Hemangioma | | MONDO:0024499|MONDO:0000631|MONDO:0006500 | -| MONDO:0857772 | bone glomus tumor | NCIT:C6480 | MONDO:equivalentTo | Bone Glomus Tumor | | MONDO:0019060|MONDO:0018327 | -| MONDO:0857773 | extraabdominal fibromatosis | NCIT:C6489 | MONDO:equivalentTo | Extraabdominal Fibromatosis | | MONDO:0007608 | -| MONDO:0857774 | deep lipoma | NCIT:C6498 | MONDO:equivalentTo | Deep Lipoma | | MONDO:0005106 | -| MONDO:0857775 | benign skeletal muscle neoplasm | NCIT:C6515 | MONDO:equivalentTo | Benign Skeletal Muscle Neoplasm | | MONDO:0002848|MONDO:0003061 | -| MONDO:0857776 | non-small cell carcinoma | NCIT:C65151 | MONDO:equivalentTo | Non-Small Cell Carcinoma | | MONDO:0004993 | -| MONDO:0857777 | malignant neoplasm, uncertain whether primary or metastatic | NCIT:C65153 | MONDO:equivalentTo | Malignant Neoplasm, Uncertain Whether Primary or Metastatic | | MONDO:0004992 | -| MONDO:0857778 | papillary carcinoma in situ | NCIT:C65163 | MONDO:equivalentTo | Papillary Carcinoma In Situ | | MONDO:0004647|MONDO:0006509 | -| MONDO:0857779 | non-invasive papillary squamous cell carcinoma | NCIT:C65164 | MONDO:equivalentTo | Non-Invasive Papillary Squamous Cell Carcinoma | | MONDO:0002979 | -| MONDO:0857780 | inverted squamous papilloma | NCIT:C65165 | MONDO:equivalentTo | Inverted Squamous Papilloma | | MONDO:0002537|MONDO:0001825 | -| MONDO:0857781 | non-keratinizing large cell squamous cell carcinoma | NCIT:C65173 | MONDO:equivalentTo | Non-Keratinizing Large Cell Squamous Cell Carcinoma | | MONDO:0005096 | -| MONDO:0857782 | non-keratinizing small cell squamous cell carcinoma | NCIT:C65175 | MONDO:equivalentTo | Non-Keratinizing Small Cell Squamous Cell Carcinoma | | MONDO:0005096 | -| MONDO:0857783 | squamous cell carcinoma in situ with questionable stromal invasion | NCIT:C65176 | MONDO:equivalentTo | Squamous Cell Carcinoma In Situ with Questionable Stromal Invasion | | MONDO:0005096 | -| MONDO:0857785 | squamous cell carcinoma with horn formation | NCIT:C65179 | MONDO:equivalentTo | Squamous Cell Carcinoma with Horn Formation | | MONDO:0005056 | -| MONDO:0857786 | squamous cell carcinoma, clear cell type | NCIT:C65180 | MONDO:equivalentTo | Squamous Cell Carcinoma, Clear Cell Type | | MONDO:0005096 | -| MONDO:0857787 | non-invasive papillary transitional cell carcinoma | NCIT:C65181 | MONDO:equivalentTo | Non-Invasive Papillary Transitional Cell Carcinoma | | MONDO:0006350 | -| MONDO:0857789 | malignant pancreatic insulinoma | NCIT:C65186 | MONDO:equivalentTo | Malignant Pancreatic Insulinoma | | MONDO:0024677 | -| MONDO:0857790 | malignant pancreatic glucagonoma | NCIT:C65187 | MONDO:equivalentTo | Malignant Pancreatic Glucagonoma | | MONDO:0019959 | -| MONDO:0857791 | malignant gastrinoma | NCIT:C65188 | MONDO:equivalentTo | Malignant Gastrinoma | | MONDO:0003523 | -| MONDO:0857792 | malignant vipoma | NCIT:C65189 | MONDO:equivalentTo | Malignant Vipoma | | MONDO:0019960 | -| MONDO:0857793 | malignant somatostatinoma | NCIT:C65190 | MONDO:equivalentTo | Malignant Somatostatinoma | | MONDO:0006976 | -| MONDO:0857794 | flat adenoma | NCIT:C65193 | MONDO:equivalentTo | Flat Adenoma | | MONDO:0006180 | -| MONDO:0857795 | glandular papillomatosis | NCIT:C65198 | MONDO:equivalentTo | Glandular Papillomatosis | | MONDO:0021098 | -| MONDO:0857796 | thyroid gland follicular carcinoma, minimally invasive | NCIT:C65200 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Minimally Invasive | | MONDO:0040677|MONDO:0005034 | -| MONDO:0857797 | papillary mucinous cystadenocarcinoma | NCIT:C65204 | MONDO:equivalentTo | Papillary Mucinous Cystadenocarcinoma | | MONDO:0005858|MONDO:0005074 | -| MONDO:0857798 | malignant testicular sertoli cell tumor | NCIT:C6523 | MONDO:equivalentTo | Malignant Testicular Sertoli Cell Tumor | | MONDO:0000378|MONDO:0020808 | -| MONDO:0857799 | malignant pericytic neoplasm | NCIT:C6530 | MONDO:equivalentTo | Malignant Pericytic Neoplasm | | MONDO:0002604|MONDO:0024637 | -| MONDO:0857802 | ancient schwannoma | NCIT:C6556 | MONDO:equivalentTo | Ancient Schwannoma | | MONDO:0002546 | -| MONDO:0857803 | extraskeletal cartilaginous and osseous neoplasm | NCIT:C6570 | MONDO:equivalentTo | Extraskeletal Cartilaginous and Osseous Neoplasm | | MONDO:0006424 | -| MONDO:0857804 | intramuscular myxoma | NCIT:C6579 | MONDO:equivalentTo | Intramuscular Myxoma | | MONDO:0044784 | -| MONDO:0857805 | juxta-articular myxoma | NCIT:C6580 | MONDO:equivalentTo | Juxta-Articular Myxoma | | MONDO:0044784 | -| MONDO:0857806 | peripheral neuroblastoma | NCIT:C6591 | MONDO:equivalentTo | Peripheral Neuroblastoma | | MONDO:0002749|MONDO:0021089 | -| MONDO:0857807 | benign mediastinal soft tissue neoplasm | NCIT:C6593 | MONDO:equivalentTo | Benign Mediastinal Soft Tissue Neoplasm | | MONDO:0003512|MONDO:0044335|MONDO:0021521 | -| MONDO:0857810 | soft tissue fibrosarcoma | NCIT:C6605 | MONDO:equivalentTo | Soft Tissue Fibrosarcoma | | MONDO:0018078|MONDO:0005164 | -| MONDO:0857811 | mediastinal malignant peripheral nerve sheath tumor | NCIT:C6626 | MONDO:equivalentTo | Mediastinal Malignant Peripheral Nerve Sheath Tumor | | MONDO:0003098|MONDO:0002852|MONDO:0017827 | -| MONDO:0857812 | mediastinal ganglioneuroma | NCIT:C6632 | MONDO:equivalentTo | Mediastinal Ganglioneuroma | | MONDO:0003098|MONDO:0021521|MONDO:0005033 | -| MONDO:0857813 | mediastinal hodgkin lymphoma | NCIT:C6634 | MONDO:equivalentTo | Mediastinal Hodgkin Lymphoma | | MONDO:0004952|MONDO:0004021 | -| MONDO:0857814 | stage 1 neuroblastoma | NCIT:C6638 | MONDO:equivalentTo | Stage 1 Neuroblastoma | | MONDO:0005072 | -| MONDO:0857815 | stage 2 neuroblastoma | NCIT:C6639 | MONDO:equivalentTo | Stage 2 Neuroblastoma | | MONDO:0005072 | -| MONDO:0857816 | stage 3 neuroblastoma | NCIT:C6640 | MONDO:equivalentTo | Stage 3 Neuroblastoma | | MONDO:0005072 | -| MONDO:0857817 | stage 4 neuroblastoma | NCIT:C6641 | MONDO:equivalentTo | Stage 4 Neuroblastoma | | MONDO:0005072 | -| MONDO:0857821 | breast atypical medullary carcinoma | NCIT:C66719 | MONDO:equivalentTo | Breast Atypical Medullary Carcinoma | | MONDO:0004953 | -| MONDO:0857822 | adenocarcinoma with neuroendocrine differentiation | NCIT:C66745 | MONDO:equivalentTo | Adenocarcinoma with Neuroendocrine Differentiation | | MONDO:0004970 | -| MONDO:0857823 | testicular sex cord-stromal tumor, not otherwise specified | NCIT:C66748 | MONDO:equivalentTo | Testicular Sex Cord-Stromal Tumor, Not Otherwise Specified | | MONDO:0003125 | -| MONDO:0857824 | ovarian stromal tumor with minor sex cord elements | NCIT:C66749 | MONDO:equivalentTo | Ovarian Stromal Tumor with Minor Sex Cord Elements | | MONDO:0021657 | -| MONDO:0857825 | adult granulosa cell tumor | NCIT:C66750 | MONDO:equivalentTo | Adult Granulosa Cell Tumor | | MONDO:0006036 | -| MONDO:0857826 | melanoma in precancerous melanosis | NCIT:C66753 | MONDO:equivalentTo | Melanoma in Precancerous Melanosis | | MONDO:0005012 | -| MONDO:0857827 | small congenital melanocytic nevus | NCIT:C66754 | MONDO:equivalentTo | Small Congenital Melanocytic Nevus | | MONDO:0044792 | -| MONDO:0857828 | proliferative nodules in congenital melanocytic nevus | NCIT:C66755 | MONDO:equivalentTo | Proliferative Nodules in Congenital Melanocytic Nevus | | MONDO:0044792 | -| MONDO:0857829 | periosteal fibroma | NCIT:C66761 | MONDO:equivalentTo | Periosteal Fibroma | | MONDO:0000631|MONDO:0005167 | -| MONDO:0857830 | fascial fibroma | NCIT:C66764 | MONDO:equivalentTo | Fascial Fibroma | | MONDO:0005167 | -| MONDO:0857831 | fascial fibrosarcoma | NCIT:C66765 | MONDO:equivalentTo | Fascial Fibrosarcoma | | MONDO:0005164 | -| MONDO:0857834 | choriocarcinoma combined with other germ cell elements | NCIT:C66777 | MONDO:equivalentTo | Choriocarcinoma Combined with Other Germ Cell Elements | | MONDO:0015864|MONDO:0005853 | -| MONDO:0857835 | hemolymphangioma | NCIT:C66792 | MONDO:equivalentTo | Hemolymphangioma | | MONDO:0002013 | -| MONDO:0857836 | ganglioneuromatosis | NCIT:C66804 | MONDO:equivalentTo | Ganglioneuromatosis | | MONDO:0005033 | -| MONDO:0857837 | ciliary body benign medulloepithelioma | NCIT:C66807 | MONDO:equivalentTo | Ciliary Body Benign Medulloepithelioma | | MONDO:0021486|MONDO:0017050 | -| MONDO:0857838 | ciliary body teratoid medulloepithelioma | NCIT:C66810 | MONDO:equivalentTo | Ciliary Body Teratoid Medulloepithelioma | | MONDO:0017050 | -| MONDO:0857839 | retinocytoma | NCIT:C66812 | MONDO:equivalentTo | Retinocytoma | | MONDO:0021453|MONDO:0024341 | -| MONDO:0857840 | differentiated retinoblastoma | NCIT:C66813 | MONDO:equivalentTo | Differentiated Retinoblastoma | | MONDO:0008380 | -| MONDO:0857841 | undifferentiated retinoblastoma | NCIT:C66814 | MONDO:equivalentTo | Undifferentiated Retinoblastoma | | MONDO:0008380 | -| MONDO:0857842 | diffuse retinoblastoma | NCIT:C66815 | MONDO:equivalentTo | Diffuse Retinoblastoma | | MONDO:0008380 | -| MONDO:0857844 | melanotic neurofibroma | NCIT:C66841 | MONDO:equivalentTo | Melanotic Neurofibroma | | MONDO:0016755 | -| MONDO:0857846 | testicular mixed sex cord-stromal tumor | NCIT:C66991 | MONDO:equivalentTo | Testicular Mixed Sex Cord-Stromal Tumor | | MONDO:0003125 | -| MONDO:0857847 | pyriform fossa carcinoma | NCIT:C6700 | MONDO:equivalentTo | Pyriform Fossa Carcinoma | | MONDO:0005216 | -| MONDO:0857848 | ovarian serous adenocarcinofibroma | NCIT:C67092 | MONDO:equivalentTo | Ovarian Serous Adenocarcinofibroma | | MONDO:0024885|MONDO:0002991 | -| MONDO:0857849 | sternal chondromyxoid fibroma | NCIT:C6714 | MONDO:equivalentTo | Sternal Chondromyxoid Fibroma | | MONDO:0021456|MONDO:0018447 | -| MONDO:0857850 | olfactory neurogenic tumor | NCIT:C67155 | MONDO:equivalentTo | Olfactory Neurogenic Tumor | | MONDO:0002722 | -| MONDO:0857852 | nodular sclerosis classic hodgkin lymphoma, cellular phase | NCIT:C67171 | MONDO:equivalentTo | Nodular Sclerosis Classic Hodgkin Lymphoma, Cellular Phase | | MONDO:0004665 | -| MONDO:0857853 | sternal intraosseous schwannoma | NCIT:C6718 | MONDO:equivalentTo | Sternal Intraosseous Schwannoma | | MONDO:0021456|MONDO:0004820 | -| MONDO:0857854 | peripheral primitive neuroectodermal tumor of the kidney | NCIT:C67214 | MONDO:equivalentTo | Peripheral Primitive Neuroectodermal Tumor of the Kidney | | MONDO:0018271|MONDO:0002367 | -| MONDO:0857855 | chest wall hodgkin lymphoma | NCIT:C6723 | MONDO:equivalentTo | Chest Wall Hodgkin Lymphoma | | MONDO:0004952|MONDO:0003985 | -| MONDO:0857858 | benign glomus tumor | NCIT:C6748 | MONDO:equivalentTo | Benign Glomus Tumor | | MONDO:0003342|MONDO:0018327 | -| MONDO:0857859 | malignant sex cord-stromal tumor | NCIT:C67561 | MONDO:equivalentTo | Malignant Sex Cord-Stromal Tumor | | MONDO:0006055|MONDO:0002149 | -| MONDO:0857860 | myxoid leiomyoma | NCIT:C67563 | MONDO:equivalentTo | Myxoid Leiomyoma | | MONDO:0001572 | -| MONDO:0857862 | stromal neoplasm | NCIT:C6781 | MONDO:equivalentTo | Stromal Neoplasm | | MONDO:0002616|MONDO:0006424 | -| MONDO:0857864 | benign apocrine neoplasm | NCIT:C6799 | MONDO:equivalentTo | Benign Apocrine Neoplasm | | MONDO:0003686|MONDO:0021489 | -| MONDO:0857866 | benign external ear neoplasm | NCIT:C6807 | MONDO:equivalentTo | Benign External Ear Neoplasm | | MONDO:0021474|MONDO:0021235 | -| MONDO:0857867 | prostate ductal adenocarcinoma | NCIT:C6813 | MONDO:equivalentTo | Prostate Ductal Adenocarcinoma | | MONDO:0005082 | -| MONDO:0857872 | kadish stage a olfactory neuroblastoma | NCIT:C6853 | MONDO:equivalentTo | Kadish Stage A Olfactory Neuroblastoma | | MONDO:0006329 | -| MONDO:0857873 | kadish stage b olfactory neuroblastoma | NCIT:C6854 | MONDO:equivalentTo | Kadish Stage B Olfactory Neuroblastoma | | MONDO:0006329 | -| MONDO:0857874 | oropharyngeal undifferentiated carcinoma | NCIT:C68610 | MONDO:equivalentTo | Oropharyngeal Undifferentiated Carcinoma | | MONDO:0044704|MONDO:0003572 | -| MONDO:0857876 | childhood extracranial germ cell tumor | NCIT:C68627 | MONDO:equivalentTo | Childhood Extracranial Germ Cell Tumor | | MONDO:0003751 | -| MONDO:0857879 | childhood extragonadal malignant germ cell tumor | NCIT:C68632 | MONDO:equivalentTo | Childhood Extragonadal Malignant Germ Cell Tumor | | MONDO:0003113|MONDO:0004479 | -| MONDO:0857881 | adrenal cortical low grade carcinoma | NCIT:C68635 | MONDO:equivalentTo | Adrenal Cortical Low Grade Carcinoma | | MONDO:0006639 | -| MONDO:0857882 | adrenal cortical sarcomatoid carcinoma | NCIT:C68644 | MONDO:equivalentTo | Adrenal Cortical Sarcomatoid Carcinoma | | MONDO:0006639|MONDO:0006406 | -| MONDO:0857884 | hodgkin lymphoma by clinical course | NCIT:C68666 | MONDO:equivalentTo | Hodgkin Lymphoma by Clinical Course | | MONDO:0004952 | -| MONDO:0857892 | adult gliosarcoma | NCIT:C68701 | MONDO:equivalentTo | Adult Gliosarcoma | | MONDO:0020690|MONDO:0016681 | -| MONDO:0857893 | adult giant cell glioblastoma | NCIT:C68702 | MONDO:equivalentTo | Adult Giant Cell Glioblastoma | | MONDO:0020690|MONDO:0016682 | -| MONDO:0857895 | pancreatic mixed acinar carcinoma-neuroendocrine carcinoma | NCIT:C6878 | MONDO:equivalentTo | Pancreatic Mixed Acinar Carcinoma-Neuroendocrine Carcinoma | | MONDO:0044727 | -| MONDO:0857896 | cellular fibroma | NCIT:C6892 | MONDO:equivalentTo | Cellular Fibroma | | MONDO:0005167 | -| MONDO:0857897 | malignant solitary fibrous tumor | NCIT:C6894 | MONDO:equivalentTo | Malignant Solitary Fibrous Tumor | | MONDO:0016238|MONDO:0004992 | -| MONDO:0857899 | atypical burkitt/burkitt-like lymphoma | NCIT:C6917 | MONDO:equivalentTo | Atypical Burkitt/Burkitt-Like Lymphoma | | MONDO:0007243 | -| MONDO:0857900 | acute myeloid leukemia with a variant kmt2a rearrangement | NCIT:C6924 | MONDO:equivalentTo | Acute Myeloid Leukemia with a Variant KMT2A Rearrangement | | MONDO:0100404 | -| MONDO:0857901 | malignant ovarian thecoma | NCIT:C6929 | MONDO:equivalentTo | Malignant Ovarian Thecoma | | MONDO:0018172|MONDO:0037253 | -| MONDO:0857902 | solitary plasmacytoma | NCIT:C6932 | MONDO:equivalentTo | Solitary Plasmacytoma | | MONDO:0005615 | -| MONDO:0857903 | deep (aggressive) angiomyxoma | NCIT:C6936 | MONDO:equivalentTo | Deep (Aggressive) Angiomyxoma | | MONDO:0006086 | -| MONDO:0857904 | cardiac fibroma | NCIT:C6947 | MONDO:equivalentTo | Cardiac Fibroma | | MONDO:0021450|MONDO:0005167 | -| MONDO:0857906 | anaplastic kidney wilms tumor | NCIT:C6952 | MONDO:equivalentTo | Anaplastic Kidney Wilms Tumor | | MONDO:0019004|MONDO:0020633 | -| MONDO:0857907 | simple endometrial hyperplasia with atypia | NCIT:C6991 | MONDO:equivalentTo | Simple Endometrial Hyperplasia with Atypia | | MONDO:0006410 | -| MONDO:0857910 | central nervous system kaposi sarcoma | NCIT:C7006 | MONDO:equivalentTo | Central Nervous System Kaposi Sarcoma | | MONDO:0005055|MONDO:0002217 | -| MONDO:0857913 | central nervous system inflammatory myofibroblastic tumor | NCIT:C7020 | MONDO:equivalentTo | Central Nervous System Inflammatory Myofibroblastic Tumor | | MONDO:0015798|MONDO:0003244 | -| MONDO:0857918 | meningioma by site | NCIT:C7051 | MONDO:equivalentTo | Meningioma by Site | | MONDO:0016642 | -| MONDO:0857919 | mature b-cell non-hodgkin lymphoma | NCIT:C7056 | MONDO:equivalentTo | Mature B-Cell Non-Hodgkin Lymphoma | | MONDO:0015759|MONDO:0004949 | -| MONDO:0857921 | neoplasm by special category | NCIT:C7062 | MONDO:equivalentTo | Neoplasm by Special Category | | MONDO:0005070 | -| MONDO:0857925 | megakaryocytic neoplasm | NCIT:C7066 | MONDO:equivalentTo | Megakaryocytic Neoplasm | | MONDO:0005170|MONDO:0021138 | -| MONDO:0857926 | prostate cancer by whitmore-jewett stage | NCIT:C7079 | MONDO:equivalentTo | Prostate Cancer by Whitmore-Jewett Stage | | MONDO:0005159 | -| MONDO:0857931 | metastatic non-cutaneous melanoma | NCIT:C7092 | MONDO:equivalentTo | Metastatic Non-Cutaneous Melanoma | | MONDO:0005191|MONDO:0006320 | -| MONDO:0857935 | teratoid hepatoblastoma | NCIT:C7098 | MONDO:equivalentTo | Teratoid Hepatoblastoma | | MONDO:0003650 | -| MONDO:0857937 | adult pilocytic astrocytoma | NCIT:C71016 | MONDO:equivalentTo | Adult Pilocytic Astrocytoma | | MONDO:0002503|MONDO:0016691 | -| MONDO:0857940 | liver non-epithelial neoplasm | NCIT:C7107 | MONDO:equivalentTo | Liver Non-Epithelial Neoplasm | | MONDO:0024477 | -| MONDO:0857943 | stage i liver cancer | NCIT:C7116 | MONDO:equivalentTo | Stage I Liver Cancer | | MONDO:0018531 | -| MONDO:0857944 | stage ii liver cancer | NCIT:C7117 | MONDO:equivalentTo | Stage II Liver Cancer | | MONDO:0018531 | -| MONDO:0857945 | stage iii liver cancer | NCIT:C7118 | MONDO:equivalentTo | Stage III Liver Cancer | | MONDO:0018531 | -| MONDO:0857946 | stage iv liver cancer | NCIT:C7121 | MONDO:equivalentTo | Stage IV Liver Cancer | | MONDO:0018531 | -| MONDO:0857947 | intrahepatic bile duct microcystic adenoma | NCIT:C7127 | MONDO:equivalentTo | Intrahepatic Bile Duct Microcystic Adenoma | | MONDO:0003444|MONDO:0003435 | -| MONDO:0857948 | gallbladder benign non-epithelial neoplasm | NCIT:C7129 | MONDO:equivalentTo | Gallbladder Benign Non-Epithelial Neoplasm | | MONDO:0021503 | -| MONDO:0857950 | childhood grade 2 meningioma | NCIT:C71301 | MONDO:equivalentTo | Childhood Grade 2 Meningioma | | MONDO:0003057|MONDO:0045056 | -| MONDO:0857952 | ovarian sertoli cell tumor | NCIT:C7133 | MONDO:equivalentTo | Ovarian Sertoli Cell Tumor | | MONDO:0002696|MONDO:0020807 | -| MONDO:0857961 | benign fibroblastic neoplasm | NCIT:C7147 | MONDO:equivalentTo | Benign Fibroblastic Neoplasm | | MONDO:0006209|MONDO:0044335 | -| MONDO:0857962 | soft tissue tumor of uncertain differentiation | NCIT:C7148 | MONDO:equivalentTo | Soft Tissue Tumor of Uncertain Differentiation | | MONDO:0006424 | -| MONDO:0857963 | monoclonal immunoglobulin deposition disease | NCIT:C7151 | MONDO:equivalentTo | Monoclonal Immunoglobulin Deposition Disease | | MONDO:0004949 | -| MONDO:0857964 | erythroleukemia | NCIT:C7152 | MONDO:equivalentTo | Erythroleukemia | | MONDO:0017858 | -| MONDO:0857965 | primary central chondrosarcoma | NCIT:C7155 | MONDO:equivalentTo | Primary Central Chondrosarcoma | | MONDO:0008977|MONDO:0021054 | -| MONDO:0857966 | benign dermal neoplasm | NCIT:C7158 | MONDO:equivalentTo | Benign Dermal Neoplasm | | MONDO:0002300|MONDO:0021440 | -| MONDO:0857967 | grade 1 nodular sclerosis classic hodgkin lymphoma | NCIT:C7165 | MONDO:equivalentTo | Grade 1 Nodular Sclerosis Classic Hodgkin Lymphoma | | MONDO:0004665 | -| MONDO:0857968 | grade 2 nodular sclerosis classic hodgkin lymphoma | NCIT:C7166 | MONDO:equivalentTo | Grade 2 Nodular Sclerosis Classic Hodgkin Lymphoma | | MONDO:0004665 | -| MONDO:0857971 | adult diffuse astrocytoma | NCIT:C7174 | MONDO:equivalentTo | Adult Diffuse Astrocytoma | | MONDO:0004320|MONDO:0016686 | -| MONDO:0857972 | spindle cell/pleomorphic lipoma | NCIT:C7180 | MONDO:equivalentTo | Spindle Cell/Pleomorphic Lipoma | | MONDO:0005106 | -| MONDO:0857973 | classical burkitt lymphoma | NCIT:C7188 | MONDO:equivalentTo | Classical Burkitt Lymphoma | | MONDO:0007243 | -| MONDO:0857974 | burkitt lymphoma with plasmacytoid differentiation | NCIT:C7189 | MONDO:equivalentTo | Burkitt Lymphoma with Plasmacytoid Differentiation | | MONDO:0007243 | -| MONDO:0857975 | type b lymphomatoid papulosis | NCIT:C7198 | MONDO:equivalentTo | Type B Lymphomatoid Papulosis | | MONDO:0020326 | -| MONDO:0857976 | lymphoepithelioid variant peripheral t-cell lymphoma, not otherwise specified | NCIT:C7205 | MONDO:equivalentTo | Lymphoepithelioid Variant Peripheral T-Cell Lymphoma, Not Otherwise Specified | | MONDO:0004964 | -| MONDO:0857977 | common variant anaplastic large cell lymphoma | NCIT:C7206 | MONDO:equivalentTo | Common Variant Anaplastic Large Cell Lymphoma | | MONDO:0020325 | -| MONDO:0857978 | lymphohistiocytic variant anaplastic large cell lymphoma | NCIT:C7207 | MONDO:equivalentTo | Lymphohistiocytic Variant Anaplastic Large Cell Lymphoma | | MONDO:0020325 | -| MONDO:0857981 | non-hodgkin lymphoma by clinical course | NCIT:C7215 | MONDO:equivalentTo | Non-Hodgkin Lymphoma by Clinical Course | | MONDO:0018908 | -| MONDO:0857982 | primary cutaneous hodgkin lymphoma | NCIT:C7221 | MONDO:equivalentTo | Primary Cutaneous Hodgkin Lymphoma | | MONDO:0004952|MONDO:0018898 | -| MONDO:0857984 | blastoid variant mantle cell lymphoma | NCIT:C7229 | MONDO:equivalentTo | Blastoid Variant Mantle Cell Lymphoma | | MONDO:0018876 | -| MONDO:0857995 | follicular lymphoma with predominantly diffuse growth pattern | NCIT:C7264 | MONDO:equivalentTo | Follicular Lymphoma with Predominantly Diffuse Growth Pattern | | MONDO:0018906 | -| MONDO:0857996 | minimally invasive lung mucinous adenocarcinoma | NCIT:C7268 | MONDO:equivalentTo | Minimally Invasive Lung Mucinous Adenocarcinoma | | MONDO:0004991 | -| MONDO:0857997 | minimally invasive lung non-mucinous adenocarcinoma | NCIT:C7269 | MONDO:equivalentTo | Minimally Invasive Lung Non-Mucinous Adenocarcinoma | | MONDO:0004991 | -| MONDO:0857998 | ovarian dermoid cyst with secondary tumor | NCIT:C7284 | MONDO:equivalentTo | Ovarian Dermoid Cyst with Secondary Tumor | | MONDO:0003331 | -| MONDO:0857999 | ovarian granulosa-stromal cell tumor | NCIT:C7287 | MONDO:equivalentTo | Ovarian Granulosa-Stromal Cell Tumor | | MONDO:0021657 | -| MONDO:0858001 | malignant splenic soft tissue neoplasm | NCIT:C7292 | MONDO:equivalentTo | Malignant Splenic Soft Tissue Neoplasm | | MONDO:0024637|MONDO:0005966 | -| MONDO:0858002 | splenic manifestation of t-cell prolymphocytic leukemia | NCIT:C7298 | MONDO:equivalentTo | Splenic Manifestation of T-Cell Prolymphocytic Leukemia | | MONDO:0002966|MONDO:0019468 | -| MONDO:0858003 | splenic manifestation of b-cell prolymphocytic leukemia | NCIT:C7299 | MONDO:equivalentTo | Splenic Manifestation of B-Cell Prolymphocytic Leukemia | | MONDO:0002966|MONDO:0019461 | -| MONDO:0858004 | splenic manifestation of chronic lymphocytic leukemia | NCIT:C7300 | MONDO:equivalentTo | Splenic Manifestation of Chronic Lymphocytic Leukemia | | MONDO:0004107|MONDO:0004948 | -| MONDO:0858005 | splenic manifestation of t-cell large granular lymphocyte leukemia | NCIT:C7302 | MONDO:equivalentTo | Splenic Manifestation of T-Cell Large Granular Lymphocyte Leukemia | | MONDO:0004107|MONDO:0019469 | -| MONDO:0858006 | splenic manifestation of chronic myeloid leukemia, bcr-abl1 positive | NCIT:C7303 | MONDO:equivalentTo | Splenic Manifestation of Chronic Myeloid Leukemia, BCR-ABL1 Positive | | MONDO:0004107|MONDO:0011996 | -| MONDO:0858007 | splenic lymphoplasmacytic lymphoma | NCIT:C7305 | MONDO:equivalentTo | Splenic Lymphoplasmacytic Lymphoma | | MONDO:0000432 | -| MONDO:0858008 | splenic lymphoblastic lymphoma | NCIT:C7312 | MONDO:equivalentTo | Splenic Lymphoblastic Lymphoma | | MONDO:0000873 | -| MONDO:0858010 | acute monoblastic and monocytic leukemia | NCIT:C7318 | MONDO:equivalentTo | Acute Monoblastic and Monocytic Leukemia | | MONDO:0015667 | -| MONDO:0858011 | childhood chronic myeloid leukemia, bcr-abl1 positive | NCIT:C7320 | MONDO:equivalentTo | Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive | | MONDO:0011996|MONDO:0004355 | -| MONDO:0858012 | ovarian mixed germ cell-sex cord-stromal tumor | NCIT:C7321 | MONDO:equivalentTo | Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor | | MONDO:0002478|MONDO:0021068 | -| MONDO:0858013 | testicular mixed germ cell-sex cord-stromal tumor | NCIT:C7322 | MONDO:equivalentTo | Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor | | MONDO:0002478|MONDO:0021348 | -| MONDO:0858016 | reproductive endocrine neoplasm | NCIT:C7335 | MONDO:equivalentTo | Reproductive Endocrine Neoplasm | | MONDO:0006054|MONDO:0002082|MONDO:0002259 | -| MONDO:0858017 | high grade intraepithelial neoplasia | NCIT:C7348 | MONDO:equivalentTo | High Grade Intraepithelial Neoplasia | | MONDO:0024474 | -| MONDO:0858019 | cerebellar glioneuronal and neuronal tumors | NCIT:C7372 | MONDO:equivalentTo | Cerebellar Glioneuronal and Neuronal Tumors | | MONDO:0016729|MONDO:0002913 | -| MONDO:0858020 | benign vascular neoplasm | NCIT:C7389 | MONDO:equivalentTo | Benign Vascular Neoplasm | | MONDO:0024296|MONDO:0000654 | -| MONDO:0858021 | malignant vascular neoplasm | NCIT:C7390 | MONDO:equivalentTo | Malignant Vascular Neoplasm | | MONDO:0024296|MONDO:0002100 | -| MONDO:0858024 | precancerous condition by site | NCIT:C7422 | MONDO:equivalentTo | Precancerous Condition by Site | | | -| MONDO:0858025 | oral cavity and lip precancerous condition | NCIT:C7425 | MONDO:equivalentTo | Oral Cavity and Lip Precancerous Condition | | | -| MONDO:0858029 | invasive papillary adenocarcinoma | NCIT:C7438 | MONDO:equivalentTo | Invasive Papillary Adenocarcinoma | | MONDO:0040677|MONDO:0002512 | -| MONDO:0858030 | benign myoepithelioma | NCIT:C7442 | MONDO:equivalentTo | Benign Myoepithelioma | | MONDO:0044335|MONDO:0002380 | -| MONDO:0858036 | pure erythroid leukemia | NCIT:C7467 | MONDO:equivalentTo | Pure Erythroid Leukemia | | MONDO:0017858 | -| MONDO:0858037 | anal extramucosal (perianal) adenocarcinoma | NCIT:C7474 | MONDO:equivalentTo | Anal Extramucosal (Perianal) Adenocarcinoma | | MONDO:0002652 | -| MONDO:0858042 | ameloblastic carcinoma-primary type | NCIT:C7493 | MONDO:equivalentTo | Ameloblastic Carcinoma-Primary Type | | MONDO:0006079 | -| MONDO:0858043 | ameloblastic carcinoma-secondary type (dedifferentiated) | NCIT:C7496 | MONDO:equivalentTo | Ameloblastic Carcinoma-Secondary Type (Dedifferentiated) | | MONDO:0006079|MONDO:0024878 | -| MONDO:0858044 | ameloblastic carcinoma derived from odontogenic cyst | NCIT:C7497 | MONDO:equivalentTo | Ameloblastic Carcinoma Derived From Odontogenic Cyst | | MONDO:0006079|MONDO:0024878 | -| MONDO:0858045 | primary intraosseous carcinoma, not otherwise specified, derived from odontogenic cyst | NCIT:C7500 | MONDO:equivalentTo | Primary Intraosseous Carcinoma, Not Otherwise Specified, Derived from Odontogenic Cyst | | MONDO:0006385 | -| MONDO:0858049 | metastatic malignant neoplasm in the breast | NCIT:C7511 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Breast | | MONDO:0007254|MONDO:0024880 | -| MONDO:0858050 | malignant esophageal neoplasm by anatomic region | NCIT:C7512 | MONDO:equivalentTo | Malignant Esophageal Neoplasm by Anatomic Region | | MONDO:0007576 | -| MONDO:0858051 | malignant esophageal neoplasm by topographic region | NCIT:C7513 | MONDO:equivalentTo | Malignant Esophageal Neoplasm by Topographic Region | | MONDO:0007576 | -| MONDO:0858052 | kidney and ureter neoplasm | NCIT:C7514 | MONDO:equivalentTo | Kidney and Ureter Neoplasm | | MONDO:0021066 | -| MONDO:0858059 | atypical adenoma | NCIT:C7559 | MONDO:equivalentTo | Atypical Adenoma | | MONDO:0004972 | -| MONDO:0858060 | eccrine hidrocystoma | NCIT:C7565 | MONDO:equivalentTo | Eccrine Hidrocystoma | | MONDO:0024247|MONDO:0006787 | -| MONDO:0858066 | regressing nevus | NCIT:C7603 | MONDO:equivalentTo | Regressing Nevus | | MONDO:0044794 | -| MONDO:0858068 | cerebral non-hodgkin lymphoma | NCIT:C7609 | MONDO:equivalentTo | Cerebral Non-Hodgkin Lymphoma | | MONDO:0003655|MONDO:0044887 | -| MONDO:0858069 | malignant thymoma | NCIT:C7612 | MONDO:equivalentTo | Malignant Thymoma | | MONDO:0002586|MONDO:0006456 | -| MONDO:0858070 | cutaneous lymphoproliferative disorder | NCIT:C7614 | MONDO:equivalentTo | Cutaneous Lymphoproliferative Disorder | | | -| MONDO:0858074 | bilateral malignant neoplasm | NCIT:C7627 | MONDO:equivalentTo | Bilateral Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0858080 | intermediate soft tissue neoplasm | NCIT:C7653 | MONDO:equivalentTo | Intermediate Soft Tissue Neoplasm | | MONDO:0006424 | -| MONDO:0858081 | carcinoma in a polyp | NCIT:C7682 | MONDO:equivalentTo | Carcinoma in a Polyp | | MONDO:0004993 | -| MONDO:0858082 | invasive breast ductal carcinoma and lobular carcinoma in situ | NCIT:C7689 | MONDO:equivalentTo | Invasive Breast Ductal Carcinoma and Lobular Carcinoma In Situ | | MONDO:0005050 | -| MONDO:0858083 | breast ductal carcinoma in situ and lobular carcinoma | NCIT:C7690 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ and Lobular Carcinoma | | MONDO:0006306 | -| MONDO:0858086 | adult hodgkin lymphoma | NCIT:C7702 | MONDO:equivalentTo | Adult Hodgkin Lymphoma | | MONDO:0004952|MONDO:0003660 | -| MONDO:0858087 | adult non-hodgkin lymphoma | NCIT:C7704 | MONDO:equivalentTo | Adult Non-Hodgkin Lymphoma | | MONDO:0003660|MONDO:0018908 | -| MONDO:0858088 | childhood non-hodgkin lymphoma | NCIT:C7706 | MONDO:equivalentTo | Childhood Non-Hodgkin Lymphoma | | MONDO:0003659|MONDO:0018908 | -| MONDO:0858089 | adult soft tissue sarcoma | NCIT:C7707 | MONDO:equivalentTo | Adult Soft Tissue Sarcoma | | MONDO:0018078 | -| MONDO:0858091 | adult liver carcinoma | NCIT:C7711 | MONDO:equivalentTo | Adult Liver Carcinoma | | MONDO:0018531 | -| MONDO:0858092 | childhood hodgkin lymphoma | NCIT:C7714 | MONDO:equivalentTo | Childhood Hodgkin Lymphoma | | MONDO:0004952|MONDO:0003659 | -| MONDO:0858094 | gingival carcinoma | NCIT:C7721 | MONDO:equivalentTo | Gingival Carcinoma | | MONDO:0005507|MONDO:0044925 | -| MONDO:0858095 | vaginal clear cell adenocarcinoma | NCIT:C7735 | MONDO:equivalentTo | Vaginal Clear Cell Adenocarcinoma | | MONDO:0020653|MONDO:0005004 | -| MONDO:0858096 | digestive system hemangioma | NCIT:C7741 | MONDO:equivalentTo | Digestive System Hemangioma | | MONDO:0000385|MONDO:0006500 | -| MONDO:0858097 | mucous membrane hemangioma | NCIT:C7744 | MONDO:equivalentTo | Mucous Membrane Hemangioma | | MONDO:0006500 | -| MONDO:0858099 | cardiac myxoma | NCIT:C7748 | MONDO:equivalentTo | Cardiac Myxoma | | MONDO:0044784|MONDO:0021505 | -| MONDO:0858100 | malignant pericarditis | NCIT:C7753 | MONDO:equivalentTo | Malignant Pericarditis | | MONDO:0001322|MONDO:0005904 | -| MONDO:0858108 | adult leiomyosarcoma | NCIT:C7810 | MONDO:equivalentTo | Adult Leiomyosarcoma | | MONDO:0005058 | -| MONDO:0858116 | regional neuroblastoma | NCIT:C7836 | MONDO:equivalentTo | Regional Neuroblastoma | | MONDO:0005072 | -| MONDO:0858119 | stage i kidney wilms tumor | NCIT:C7840 | MONDO:equivalentTo | Stage I Kidney Wilms Tumor | | MONDO:0019004 | -| MONDO:0858120 | stage ii kidney wilms tumor | NCIT:C7841 | MONDO:equivalentTo | Stage II Kidney Wilms Tumor | | MONDO:0019004 | -| MONDO:0858121 | stage iii kidney wilms tumor | NCIT:C7842 | MONDO:equivalentTo | Stage III Kidney Wilms Tumor | | MONDO:0019004 | -| MONDO:0858122 | stage iv kidney wilms tumor | NCIT:C7843 | MONDO:equivalentTo | Stage IV Kidney Wilms Tumor | | MONDO:0019004 | -| MONDO:0858123 | stage v kidney wilms tumor | NCIT:C7844 | MONDO:equivalentTo | Stage V Kidney Wilms Tumor | | MONDO:0019004 | -| MONDO:0858126 | limited stage lung small cell carcinoma | NCIT:C7853 | MONDO:equivalentTo | Limited Stage Lung Small Cell Carcinoma | | MONDO:0008433 | -| MONDO:0858151 | grade i lymphomatoid granulomatosis | NCIT:C7931 | MONDO:equivalentTo | Grade I Lymphomatoid Granulomatosis | | MONDO:0019466 | -| MONDO:0858152 | grade ii lymphomatoid granulomatosis | NCIT:C7932 | MONDO:equivalentTo | Grade II Lymphomatoid Granulomatosis | | MONDO:0019466 | -| MONDO:0858155 | breast ductal carcinoma in situ, high grade | NCIT:C7949 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, High Grade | | MONDO:0005023 | -| MONDO:0858156 | breast paget disease with invasive ductal carcinoma | NCIT:C7951 | MONDO:equivalentTo | Breast Paget Disease with Invasive Ductal Carcinoma | | MONDO:0006256|MONDO:0002648 | -| MONDO:0858161 | childhood acute promyelocytic leukemia with t(15;17)(q24.1;q21.2); pml-rara | NCIT:C7968 | MONDO:equivalentTo | Childhood Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA | | MONDO:0012883|MONDO:0004996 | -| MONDO:0858166 | distal bile duct adenocarcinoma | NCIT:C7976 | MONDO:equivalentTo | Distal Bile Duct Adenocarcinoma | | MONDO:0002665|MONDO:0003707|MONDO:0019087 | -| MONDO:0858169 | carcinoma arising from craniopharyngioma | NCIT:C79949 | MONDO:equivalentTo | Carcinoma Arising from Craniopharyngioma | | MONDO:0024878 | -| MONDO:0858170 | testicular mixed embryonal carcinoma and yolk sac tumor | NCIT:C8001 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor | | MONDO:0003120|MONDO:0003403 | -| MONDO:0858171 | testicular mixed yolk sac tumor and teratoma | NCIT:C8002 | MONDO:equivalentTo | Testicular Mixed Yolk Sac Tumor and Teratoma | | MONDO:0003120|MONDO:0003403 | -| MONDO:0858172 | testicular mixed yolk sac tumor and teratoma with seminoma | NCIT:C8003 | MONDO:equivalentTo | Testicular Mixed Yolk Sac Tumor and Teratoma with Seminoma | | MONDO:0003120 | -| MONDO:0858173 | pancreatic somatostatin-producing neuroendocrine tumor | NCIT:C8006 | MONDO:equivalentTo | Pancreatic Somatostatin-Producing Neuroendocrine Tumor | | MONDO:0006976|MONDO:0002994 | -| MONDO:0858174 | salivary gland low grade carcinoma | NCIT:C8012 | MONDO:equivalentTo | Salivary Gland Low Grade Carcinoma | | MONDO:0000521 | -| MONDO:0858175 | lip basal cell carcinoma | NCIT:C8014 | MONDO:equivalentTo | Lip Basal Cell Carcinoma | | MONDO:0005341|MONDO:0021333 | -| MONDO:0858176 | salivary gland intermediate grade mucoepidermoid carcinoma | NCIT:C8017 | MONDO:equivalentTo | Salivary Gland Intermediate Grade Mucoepidermoid Carcinoma | | MONDO:0021009 | -| MONDO:0858177 | salivary gland high grade carcinoma | NCIT:C8018 | MONDO:equivalentTo | Salivary Gland High Grade Carcinoma | | MONDO:0000521 | -| MONDO:0858178 | salivary gland adenocarcinoma | NCIT:C8021 | MONDO:equivalentTo | Salivary Gland Adenocarcinoma | | MONDO:0000521|MONDO:0004970 | -| MONDO:0858179 | salivary gland poorly differentiated squamous cell carcinoma | NCIT:C8022 | MONDO:equivalentTo | Salivary Gland Poorly Differentiated Squamous Cell Carcinoma | | MONDO:0044740 | -| MONDO:0858180 | salivary gland undifferentiated carcinoma | NCIT:C8024 | MONDO:equivalentTo | Salivary Gland Undifferentiated Carcinoma | | MONDO:0000521|MONDO:0005617 | -| MONDO:0858182 | diffuse large b-cell lymphoma, not otherwise specified | NCIT:C80280 | MONDO:equivalentTo | Diffuse Large B-Cell Lymphoma, Not Otherwise Specified | | MONDO:0018905 | -| MONDO:0858183 | diffuse large b-cell lymphoma associated with chronic inflammation | NCIT:C80289 | MONDO:equivalentTo | Diffuse Large B-Cell Lymphoma Associated with Chronic Inflammation | | MONDO:0018905 | -| MONDO:0858184 | progressive hairy cell leukemia initial treatment | NCIT:C8029 | MONDO:equivalentTo | Progressive Hairy Cell Leukemia Initial Treatment | | MONDO:0018935 | -| MONDO:0858185 | high grade b-cell lymphoma, not otherwise specified | NCIT:C80291 | MONDO:equivalentTo | High Grade B-Cell Lymphoma, Not Otherwise Specified | | MONDO:0044889 | -| MONDO:0858186 | pediatric-type follicular lymphoma | NCIT:C80297 | MONDO:equivalentTo | Pediatric-Type Follicular Lymphoma | | MONDO:0018906 | -| MONDO:0858189 | monoclonal b-cell lymphocytosis | NCIT:C80310 | MONDO:equivalentTo | Monoclonal B-Cell Lymphocytosis | | MONDO:0004949 | -| MONDO:0858190 | b lymphoblastic leukemia/lymphoma, not otherwise specified | NCIT:C80326 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified | | MONDO:0004947 | -| MONDO:0858191 | b lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); tcf3-pbx1 | NCIT:C80341 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 | | MONDO:0035605 | -| MONDO:0858205 | regional adrenal gland pheochromocytoma | NCIT:C8045 | MONDO:equivalentTo | Regional Adrenal Gland Pheochromocytoma | | MONDO:0004974 | -| MONDO:0858211 | stage i ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8083 | MONDO:equivalentTo | Stage I Ovarian Germ Cell Tumor AJCC v6 and v7 | | MONDO:0018171 | -| MONDO:0858212 | stage ii ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8084 | MONDO:equivalentTo | Stage II Ovarian Germ Cell Tumor AJCC v6 and v7 | | MONDO:0018171 | -| MONDO:0858213 | stage iii ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8085 | MONDO:equivalentTo | Stage III Ovarian Germ Cell Tumor AJCC v6 and v7 | | MONDO:0018171 | -| MONDO:0858214 | stage iv ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8086 | MONDO:equivalentTo | Stage IV Ovarian Germ Cell Tumor AJCC v6 and v7 | | MONDO:0018171 | -| MONDO:0858219 | regional renal pelvis and ureter urothelial carcinoma | NCIT:C8168 | MONDO:equivalentTo | Regional Renal Pelvis and Ureter Urothelial Carcinoma | | MONDO:0020654 | -| MONDO:0858221 | buccal mucosa verrucous carcinoma | NCIT:C8175 | MONDO:equivalentTo | Buccal Mucosa Verrucous Carcinoma | | MONDO:0021538|MONDO:0021431 | -| MONDO:0858222 | fibroblastic reticular cell sarcoma | NCIT:C81758 | MONDO:equivalentTo | Fibroblastic Reticular Cell Sarcoma | | MONDO:0006247|MONDO:0004992 | -| MONDO:0858224 | disseminated juvenile xanthogranuloma | NCIT:C81772 | MONDO:equivalentTo | Disseminated Juvenile Xanthogranuloma | | MONDO:0006247 | -| MONDO:0858225 | oral cavity adenoid cystic carcinoma | NCIT:C8179 | MONDO:equivalentTo | Oral Cavity Adenoid Cystic Carcinoma | | MONDO:0044925|MONDO:0004971 | -| MONDO:0858240 | mixed phenotype acute leukemia, b/myeloid | NCIT:C82212 | MONDO:equivalentTo | Mixed Phenotype Acute Leukemia, B/Myeloid | | MONDO:0020743 | -| MONDO:0858241 | mixed phenotype acute leukemia, t/myeloid | NCIT:C82213 | MONDO:equivalentTo | Mixed Phenotype Acute Leukemia, T/Myeloid | | MONDO:0020743 | -| MONDO:0858242 | natural killer cell lymphoblastic leukemia/lymphoma | NCIT:C82217 | MONDO:equivalentTo | Natural Killer Cell Lymphoblastic Leukemia/Lymphoma | | MONDO:0003538 | -| MONDO:0858245 | myelodysplastic/myeloproliferative neoplasm post cytotoxic therapy | NCIT:C82397 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm Post Cytotoxic Therapy | | MONDO:0006450|MONDO:0006311 | -| MONDO:0858246 | acute myeloid leukemia with myelodysplasia-related gene mutations | NCIT:C82430 | MONDO:equivalentTo | Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations | | MONDO:0100409 | -| MONDO:0858249 | de novo myelodysplastic syndrome | NCIT:C8253 | MONDO:equivalentTo | de novo Myelodysplastic Syndrome | | MONDO:0018881 | -| MONDO:0858251 | adult anaplastic astrocytoma | NCIT:C8257 | MONDO:equivalentTo | Adult Anaplastic Astrocytoma | | MONDO:0016684|MONDO:0004320 | -| MONDO:0858252 | refractory neutropenia | NCIT:C82593 | MONDO:equivalentTo | Refractory Neutropenia | | MONDO:0005272 | -| MONDO:0858253 | refractory thrombocytopenia | NCIT:C82594 | MONDO:equivalentTo | Refractory Thrombocytopenia | | MONDO:0005272 | -| MONDO:0858254 | myelodysplastic syndrome with excess blasts and fibrosis | NCIT:C82595 | MONDO:equivalentTo | Myelodysplastic Syndrome with Excess Blasts and Fibrosis | | MONDO:0019454 | -| MONDO:0858256 | myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis, not otherwise specified | NCIT:C82616 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis, Not Otherwise Specified | | MONDO:0006311 | -| MONDO:0858257 | adult cholangiocarcinoma | NCIT:C8265 | MONDO:equivalentTo | Adult Cholangiocarcinoma | | MONDO:0019087 | -| MONDO:0858258 | meyerson nevus | NCIT:C82862 | MONDO:equivalentTo | Meyerson Nevus | | MONDO:0044794 | -| MONDO:0858259 | cystic oncocytic neoplasm | NCIT:C82890 | MONDO:equivalentTo | Cystic Oncocytic Neoplasm | | MONDO:0010795 | -| MONDO:0858265 | duodenal extraskeletal osteosarcoma | NCIT:C82972 | MONDO:equivalentTo | Duodenal Extraskeletal Osteosarcoma | | MONDO:0000920|MONDO:0002621|MONDO:0003361 | -| MONDO:0858272 | cellular pleomorphic adenoma | NCIT:C83174 | MONDO:equivalentTo | Cellular Pleomorphic Adenoma | | MONDO:0008401 | -| MONDO:0858275 | atypical hyperplasia | NCIT:C8355 | MONDO:equivalentTo | Atypical Hyperplasia | | | -| MONDO:0858277 | low grade intraepithelial neoplasia | NCIT:C8367 | MONDO:equivalentTo | Low Grade Intraepithelial Neoplasia | | MONDO:0024474 | -| MONDO:0858280 | lymphangiomatosis | NCIT:C8373 | MONDO:equivalentTo | Lymphangiomatosis | | MONDO:0036870 | -| MONDO:0858283 | fibrohistiocytic neoplasm | NCIT:C8402 | MONDO:equivalentTo | Fibrohistiocytic Neoplasm | | MONDO:0002616 | -| MONDO:0858284 | benign supraglottis neoplasm | NCIT:C8414 | MONDO:equivalentTo | Benign Supraglottis Neoplasm | | MONDO:0004427|MONDO:0002354 | -| MONDO:0858285 | benign bartholin gland neoplasm | NCIT:C8418 | MONDO:equivalentTo | Benign Bartholin Gland Neoplasm | | MONDO:0021114|MONDO:0000643 | -| MONDO:0858286 | diffuse malignant mesothelioma | NCIT:C8420 | MONDO:equivalentTo | Diffuse Malignant Mesothelioma | | MONDO:0006292 | -| MONDO:0858287 | renal benign mesenchymoma | NCIT:C84256 | MONDO:equivalentTo | Renal Benign Mesenchymoma | | MONDO:0002382 | -| MONDO:0858288 | diffuse neurofibroma | NCIT:C8426 | MONDO:equivalentTo | Diffuse Neurofibroma | | MONDO:0016755 | -| MONDO:0858289 | anaplastic astroblastoma, mn1-altered | NCIT:C84347 | MONDO:equivalentTo | Anaplastic Astroblastoma, MN1-Altered | | MONDO:0016707 | -| MONDO:0858299 | asbestos-related lung disorder | NCIT:C84472 | MONDO:equivalentTo | Asbestos-Related Lung Disorder | | | -| MONDO:0858304 | central nervous system cavernous hemangioma | NCIT:C84621 | MONDO:equivalentTo | Central Nervous System Cavernous Hemangioma | | MONDO:0003241|MONDO:0003155 | -| MONDO:0858314 | invasive malignant neoplasm | NCIT:C8505 | MONDO:equivalentTo | Invasive Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0858316 | refractory carcinoma | NCIT:C8511 | MONDO:equivalentTo | Refractory Carcinoma | | MONDO:0036501|MONDO:0004993 | -| MONDO:0858321 | locally advanced malignant neoplasm | NCIT:C8524 | MONDO:equivalentTo | Locally Advanced Malignant Neoplasm | | MONDO:0024880 | -| MONDO:0858324 | benign respiratory system neoplasm | NCIT:C8531 | MONDO:equivalentTo | Benign Respiratory System Neoplasm | | MONDO:0005165|MONDO:0020641 | -| MONDO:0858330 | metastatic malignant neoplasm in the nervous system | NCIT:C8547 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Nervous System | | MONDO:0005872|MONDO:0024880 | -| MONDO:0858334 | metastatic malignant neoplasm in the retina | NCIT:C8555 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Retina | | MONDO:0044913|MONDO:0003072 | -| MONDO:0858337 | metastatic malignant neoplasm of unknown primary | NCIT:C8566 | MONDO:equivalentTo | Metastatic Malignant Neoplasm of Unknown Primary | | MONDO:0024880 | -| MONDO:0858339 | invasive cervical carcinoma | NCIT:C8577 | MONDO:equivalentTo | Invasive Cervical Carcinoma | | MONDO:0040677|MONDO:0005131 | -| MONDO:0858341 | precancerous polyp | NCIT:C8587 | MONDO:equivalentTo | Precancerous Polyp | | MONDO:0021075 | -| MONDO:0858342 | leukemic phase of lymphoma | NCIT:C8594 | MONDO:equivalentTo | Leukemic Phase of Lymphoma | | MONDO:0005402|MONDO:0018908 | -| MONDO:0858343 | postcricoid carcinoma | NCIT:C8595 | MONDO:equivalentTo | Postcricoid Carcinoma | | MONDO:0005216|MONDO:0004635 | -| MONDO:0858346 | anaplastic (malignant) intraspinal meningioma | NCIT:C8605 | MONDO:equivalentTo | Anaplastic (Malignant) Intraspinal Meningioma | | MONDO:0001279|MONDO:0020635 | -| MONDO:0858350 | malignant hepatobiliary neoplasm | NCIT:C8609 | MONDO:equivalentTo | Malignant Hepatobiliary Neoplasm | | MONDO:0002514|MONDO:0002516 | -| MONDO:0858351 | metastatic malignant neoplasm in the adrenal gland | NCIT:C8610 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Adrenal Gland | | MONDO:0002817|MONDO:0024880 | -| MONDO:0858363 | stage i t lymphoblastic leukemia/lymphoma | NCIT:C8697 | MONDO:equivalentTo | Stage I T Lymphoblastic Leukemia/Lymphoma | | MONDO:0003537 | -| MONDO:0858364 | stage ii t lymphoblastic leukemia/lymphoma | NCIT:C8698 | MONDO:equivalentTo | Stage II T Lymphoblastic Leukemia/Lymphoma | | MONDO:0003537 | -| MONDO:0858365 | stage iii t lymphoblastic leukemia/lymphoma | NCIT:C8699 | MONDO:equivalentTo | Stage III T Lymphoblastic Leukemia/Lymphoma | | MONDO:0003537 | -| MONDO:0858366 | stage iv t lymphoblastic leukemia/lymphoma | NCIT:C8700 | MONDO:equivalentTo | Stage IV T Lymphoblastic Leukemia/Lymphoma | | MONDO:0003537 | -| MONDO:0858370 | metastatic malignant hemangiopericytoma | NCIT:C8709 | MONDO:equivalentTo | Metastatic Malignant Hemangiopericytoma | | MONDO:0009330 | -| MONDO:0858371 | primary malignant hemangiopericytoma | NCIT:C8710 | MONDO:equivalentTo | Primary Malignant Hemangiopericytoma | | MONDO:0009330 | -| MONDO:0858381 | stage i ovarian choriocarcinoma | NCIT:C8730 | MONDO:equivalentTo | Stage I Ovarian Choriocarcinoma | | MONDO:0003507 | -| MONDO:0858382 | stage ii ovarian choriocarcinoma | NCIT:C8731 | MONDO:equivalentTo | Stage II Ovarian Choriocarcinoma | | MONDO:0003507 | -| MONDO:0858383 | stage iii ovarian choriocarcinoma | NCIT:C8732 | MONDO:equivalentTo | Stage III Ovarian Choriocarcinoma | | MONDO:0003507 | -| MONDO:0858384 | stage iv ovarian choriocarcinoma | NCIT:C8733 | MONDO:equivalentTo | Stage IV Ovarian Choriocarcinoma | | MONDO:0003507 | -| MONDO:0858395 | stage i pharyngeal cancer | NCIT:C8768 | MONDO:equivalentTo | Stage I Pharyngeal Cancer | | MONDO:0021345 | -| MONDO:0858396 | stage ii pharyngeal cancer | NCIT:C8769 | MONDO:equivalentTo | Stage II Pharyngeal Cancer | | MONDO:0021345 | -| MONDO:0858397 | stage iii pharyngeal cancer | NCIT:C8770 | MONDO:equivalentTo | Stage III Pharyngeal Cancer | | MONDO:0021345 | -| MONDO:0858398 | stage iv pharyngeal cancer | NCIT:C8771 | MONDO:equivalentTo | Stage IV Pharyngeal Cancer | | MONDO:0021345 | -| MONDO:0858443 | b lymphoblastic lymphoma | NCIT:C8868 | MONDO:equivalentTo | B Lymphoblastic Lymphoma | | MONDO:0000873|MONDO:0017595|MONDO:0004947 | -| MONDO:0858446 | extragonadal embryonal carcinoma | NCIT:C8880 | MONDO:equivalentTo | Extragonadal Embryonal Carcinoma | | MONDO:0003578|MONDO:0005440 | -| MONDO:0858459 | pediatric disorder | NCIT:C89328 | MONDO:equivalentTo | Pediatric Disorder | | | -| MONDO:0858464 | fundic gland polyp | NCIT:C8961 | MONDO:equivalentTo | Fundic Gland Polyp | | MONDO:0006221|MONDO:0036976 | -| MONDO:0858471 | oral neoplasm | NCIT:C8989 | MONDO:equivalentTo | Oral Neoplasm | | MONDO:0006858|MONDO:0005586 | -| MONDO:0858472 | malignant mastocytosis | NCIT:C8991 | MONDO:equivalentTo | Malignant Mastocytosis | | MONDO:0004992|MONDO:0016586 | -| MONDO:0858473 | benign adrenal cortical neoplasm | NCIT:C9004 | MONDO:equivalentTo | Benign Adrenal Cortical Neoplasm | | MONDO:0021511|MONDO:0036591 | -| MONDO:0858474 | acute myelomonocytic leukemia with abnormal eosinophils | NCIT:C9020 | MONDO:equivalentTo | Acute Myelomonocytic Leukemia with Abnormal Eosinophils | | MONDO:0018871 | -| MONDO:0858475 | sarcoma by fnclcc grade | NCIT:C9023 | MONDO:equivalentTo | Sarcoma by FNCLCC Grade | | MONDO:0005089 | -| MONDO:0858477 | atypical cartilaginous tumor/chondrosarcoma, grade 1 | NCIT:C9027 | MONDO:equivalentTo | Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 | | MONDO:0008977 | -| MONDO:0858479 | renal cell cancer by ajcc v6 stage | NCIT:C90343 | MONDO:equivalentTo | Renal Cell Cancer by AJCC v6 Stage | | MONDO:0005549 | -| MONDO:0858480 | bladder cancer by ajcc v6 stage | NCIT:C90344 | MONDO:equivalentTo | Bladder Cancer by AJCC v6 Stage | | MONDO:0004986 | -| MONDO:0858481 | vulvar cancer by ajcc v6 stage | NCIT:C90345 | MONDO:equivalentTo | Vulvar Cancer by AJCC v6 Stage | | MONDO:0005215 | -| MONDO:0858482 | vaginal cancer by ajcc v6 stage | NCIT:C90347 | MONDO:equivalentTo | Vaginal Cancer by AJCC v6 Stage | | MONDO:0015867 | -| MONDO:0858483 | adult angiosarcoma | NCIT:C9040 | MONDO:equivalentTo | Adult Angiosarcoma | | MONDO:0016982 | -| MONDO:0858485 | extensive stage lung small cell carcinoma | NCIT:C9049 | MONDO:equivalentTo | Extensive Stage Lung Small Cell Carcinoma | | MONDO:0008433 | -| MONDO:0858486 | cervical cancer by ajcc v6 stage | NCIT:C90493 | MONDO:equivalentTo | Cervical Cancer by AJCC v6 Stage | | MONDO:0005131 | -| MONDO:0858487 | uterine corpus cancer by ajcc v6 stage | NCIT:C90494 | MONDO:equivalentTo | Uterine Corpus Cancer by AJCC v6 Stage | | MONDO:0006003 | -| MONDO:0858488 | fallopian tube cancer by ajcc v6 stage | NCIT:C90499 | MONDO:equivalentTo | Fallopian Tube Cancer by AJCC v6 Stage | | MONDO:0006206 | -| MONDO:0858489 | esophageal cancer by ajcc v6 stage | NCIT:C90500 | MONDO:equivalentTo | Esophageal Cancer by AJCC v6 Stage | | MONDO:0019086 | -| MONDO:0858490 | gastric cancer by ajcc v6 stage | NCIT:C90503 | MONDO:equivalentTo | Gastric Cancer by AJCC v6 Stage | | MONDO:0004950 | -| MONDO:0858491 | colorectal cancer by ajcc v6 stage | NCIT:C90506 | MONDO:equivalentTo | Colorectal Cancer by AJCC v6 Stage | | MONDO:0024331 | -| MONDO:0858493 | hepatocellular carcinoma by ajcc v6 stage | NCIT:C90510 | MONDO:equivalentTo | Hepatocellular Carcinoma by AJCC v6 Stage | | MONDO:0007256 | -| MONDO:0858494 | gallbladder cancer by ajcc v6 stage | NCIT:C90512 | MONDO:equivalentTo | Gallbladder Cancer by AJCC v6 Stage | | MONDO:0003220 | -| MONDO:0858495 | breast cancer by ajcc v6 stage | NCIT:C90513 | MONDO:equivalentTo | Breast Cancer by AJCC v6 Stage | | MONDO:0004989 | -| MONDO:0858496 | cutaneous melanoma by ajcc v6 stage | NCIT:C90514 | MONDO:equivalentTo | Cutaneous Melanoma by AJCC v6 Stage | | MONDO:0005012 | -| MONDO:0858497 | lung cancer by ajcc v6 stage | NCIT:C90519 | MONDO:equivalentTo | Lung Cancer by AJCC v6 Stage | | MONDO:0005138 | -| MONDO:0858498 | penile cancer by ajcc v6 stage | NCIT:C90520 | MONDO:equivalentTo | Penile Cancer by AJCC v6 Stage | | MONDO:0006360 | -| MONDO:0858499 | prostate cancer by ajcc v6 stage | NCIT:C90521 | MONDO:equivalentTo | Prostate Cancer by AJCC v6 Stage | | MONDO:0005159 | -| MONDO:0858502 | pharyngeal carcinoma by ajcc v6 stage | NCIT:C90525 | MONDO:equivalentTo | Pharyngeal Carcinoma by AJCC v6 Stage | | MONDO:0021345 | -| MONDO:0858503 | laryngeal cancer by ajcc v6 stage | NCIT:C90527 | MONDO:equivalentTo | Laryngeal Cancer by AJCC v6 Stage | | MONDO:0002358 | -| MONDO:0858504 | sinonasal cancer by ajcc v6 stage | NCIT:C90528 | MONDO:equivalentTo | Sinonasal Cancer by AJCC v6 Stage | | MONDO:0056819 | -| MONDO:0858510 | kaposi sarcoma related to immunosuppressive treatment | NCIT:C9113 | MONDO:equivalentTo | Kaposi Sarcoma Related to Immunosuppressive Treatment | | MONDO:0005188 | -| MONDO:0858511 | renal cell cancer by ajcc v7 stage | NCIT:C91201 | MONDO:equivalentTo | Renal Cell Cancer by AJCC v7 Stage | | MONDO:0005549 | -| MONDO:0858512 | bladder cancer by ajcc v7 stage | NCIT:C91202 | MONDO:equivalentTo | Bladder Cancer by AJCC v7 Stage | | MONDO:0004986 | -| MONDO:0858513 | vulvar cancer by ajcc v7 stage | NCIT:C91203 | MONDO:equivalentTo | Vulvar Cancer by AJCC v7 Stage | | MONDO:0005215 | -| MONDO:0858514 | vaginal cancer by ajcc v7 stage | NCIT:C91204 | MONDO:equivalentTo | Vaginal Cancer by AJCC v7 Stage | | MONDO:0015867 | -| MONDO:0858515 | cervical cancer by ajcc v7 stage | NCIT:C91208 | MONDO:equivalentTo | Cervical Cancer by AJCC v7 Stage | | MONDO:0005131 | -| MONDO:0858516 | uterine corpus cancer by ajcc v7 stage | NCIT:C91218 | MONDO:equivalentTo | Uterine Corpus Cancer by AJCC v7 Stage | | MONDO:0006003 | -| MONDO:0858517 | fallopian tube cancer by ajcc v7 stage | NCIT:C91219 | MONDO:equivalentTo | Fallopian Tube Cancer by AJCC v7 Stage | | MONDO:0006206 | -| MONDO:0858518 | esophageal cancer by ajcc v7 stage | NCIT:C91221 | MONDO:equivalentTo | Esophageal Cancer by AJCC v7 Stage | | MONDO:0019086 | -| MONDO:0858519 | gastric cancer by ajcc v7 stage | NCIT:C91222 | MONDO:equivalentTo | Gastric Cancer by AJCC v7 Stage | | MONDO:0004950 | -| MONDO:0858520 | colorectal cancer by ajcc v7 stage | NCIT:C91223 | MONDO:equivalentTo | Colorectal Cancer by AJCC v7 Stage | | MONDO:0024331 | -| MONDO:0858522 | hepatocellular carcinoma by ajcc v7 stage | NCIT:C91228 | MONDO:equivalentTo | Hepatocellular Carcinoma by AJCC v7 Stage | | MONDO:0007256 | -| MONDO:0858523 | gallbladder cancer by ajcc v7 stage | NCIT:C91229 | MONDO:equivalentTo | Gallbladder Cancer by AJCC v7 Stage | | MONDO:0003220 | -| MONDO:0858524 | breast cancer by ajcc v7 stage | NCIT:C91230 | MONDO:equivalentTo | Breast Cancer by AJCC v7 Stage | | MONDO:0004989 | -| MONDO:0858525 | cutaneous melanoma by ajcc v7 stage | NCIT:C91231 | MONDO:equivalentTo | Cutaneous Melanoma by AJCC v7 Stage | | MONDO:0005012 | -| MONDO:0858526 | lung cancer by ajcc v7 stage | NCIT:C91232 | MONDO:equivalentTo | Lung Cancer by AJCC v7 Stage | | MONDO:0005138 | -| MONDO:0858527 | prostate cancer by ajcc v7 stage | NCIT:C91233 | MONDO:equivalentTo | Prostate Cancer by AJCC v7 Stage | | MONDO:0005159 | -| MONDO:0858528 | penile cancer by ajcc v7 stage | NCIT:C91234 | MONDO:equivalentTo | Penile Cancer by AJCC v7 Stage | | MONDO:0006360 | -| MONDO:0858531 | pharyngeal carcinoma by ajcc v7 stage | NCIT:C91252 | MONDO:equivalentTo | Pharyngeal Carcinoma by AJCC v7 Stage | | MONDO:0021345 | -| MONDO:0858532 | sinonasal cancer by ajcc v7 stage | NCIT:C91255 | MONDO:equivalentTo | Sinonasal Cancer by AJCC v7 Stage | | MONDO:0056819 | -| MONDO:0858533 | laryngeal cancer by ajcc v7 stage | NCIT:C91256 | MONDO:equivalentTo | Laryngeal Cancer by AJCC v7 Stage | | MONDO:0002358 | -| MONDO:0858534 | chronic myeloid leukemia, philadelphia chromosome positive, bcr-abl1 positive | NCIT:C9128 | MONDO:equivalentTo | Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive | | MONDO:0024685|MONDO:0011996 | -| MONDO:0858535 | adult rhabdomyosarcoma | NCIT:C9130 | MONDO:equivalentTo | Adult Rhabdomyosarcoma | | MONDO:0005212 | -| MONDO:0858536 | invasive breast carcinoma of no special type with predominant intraductal component | NCIT:C9132 | MONDO:equivalentTo | Invasive Breast Carcinoma of No Special Type with Predominant Intraductal Component | | MONDO:0004953 | -| MONDO:0858537 | invasive breast lobular carcinoma with predominant in situ component | NCIT:C9136 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma with Predominant In Situ Component | | MONDO:0005051 | -| MONDO:0858538 | adult acute myeloid leukemia | NCIT:C9154 | MONDO:equivalentTo | Adult Acute Myeloid Leukemia | | MONDO:0018874 | -| MONDO:0858543 | testicular mixed embryonal carcinoma and yolk sac tumor with seminoma | NCIT:C9172 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor with Seminoma | | MONDO:0003120 | -| MONDO:0858546 | good prognosis metastatic gestational trophoblastic tumor | NCIT:C9177 | MONDO:equivalentTo | Good Prognosis Metastatic Gestational Trophoblastic Tumor | | MONDO:0018944 | -| MONDO:0858547 | poor prognosis metastatic gestational trophoblastic tumor | NCIT:C9178 | MONDO:equivalentTo | Poor Prognosis Metastatic Gestational Trophoblastic Tumor | | MONDO:0018944 | -| MONDO:0858549 | intraocular schwannoma | NCIT:C92182 | MONDO:equivalentTo | Intraocular Schwannoma | | MONDO:0021454|MONDO:0004820 | -| MONDO:0858550 | esophageal malignant peripheral nerve sheath tumor | NCIT:C92185 | MONDO:equivalentTo | Esophageal Malignant Peripheral Nerve Sheath Tumor | | MONDO:0001204|MONDO:0017827 | -| MONDO:0858551 | intraocular malignant peripheral nerve sheath tumor | NCIT:C92186 | MONDO:equivalentTo | Intraocular Malignant Peripheral Nerve Sheath Tumor | | MONDO:0002236|MONDO:0017827 | -| MONDO:0858558 | non-hematologic malignancy | NCIT:C9226 | MONDO:equivalentTo | Non-Hematologic Malignancy | | MONDO:0004992 | -| MONDO:0858562 | recurrent malignant hemangiopericytoma | NCIT:C9254 | MONDO:equivalentTo | Recurrent Malignant Hemangiopericytoma | | MONDO:0009330 | -| MONDO:0858563 | multifocal glioblastomas | NCIT:C92549 | MONDO:equivalentTo | Multifocal Glioblastomas | | MONDO:0018177 | -| MONDO:0858565 | glioneuronal tumor with neuropil-like islands | NCIT:C92550 | MONDO:equivalentTo | Glioneuronal Tumor with Neuropil-Like Islands | | MONDO:0019781 | -| MONDO:0858569 | anaplastic medulloblastoma | NCIT:C92625 | MONDO:equivalentTo | Anaplastic Medulloblastoma | | MONDO:0007959 | -| MONDO:0858573 | malignant peripheral nerve sheath tumor with mesenchymal differentiation | NCIT:C92647 | MONDO:equivalentTo | Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation | | MONDO:0017827 | -| MONDO:0858574 | mycosis fungoides and sezary syndrome | NCIT:C9265 | MONDO:equivalentTo | Mycosis Fungoides and Sezary Syndrome | | MONDO:0000430 | -| MONDO:0858580 | advanced malignant neoplasm | NCIT:C9270 | MONDO:equivalentTo | Advanced Malignant Neoplasm | | MONDO:0024880 | -| MONDO:0858584 | lymphocyte-depleted classic hodgkin lymphoma | NCIT:C9283 | MONDO:equivalentTo | Lymphocyte-Depleted Classic Hodgkin Lymphoma | | MONDO:0009348 | -| MONDO:0858585 | central nervous system histiocytic and dendritic cell neoplasm | NCIT:C92944 | MONDO:equivalentTo | Central Nervous System Histiocytic and Dendritic Cell Neoplasm | | MONDO:0006247|MONDO:0003641 | -| MONDO:0858588 | peritoneal malignant mesothelioma | NCIT:C9350 | MONDO:equivalentTo | Peritoneal Malignant Mesothelioma | | MONDO:0006292|MONDO:0002087|MONDO:0006362 | -| MONDO:0858595 | combined lung small cell carcinoma and lung adenocarcinoma | NCIT:C9379 | MONDO:equivalentTo | Combined Lung Small Cell Carcinoma and Lung Adenocarcinoma | | MONDO:0003438 | -| MONDO:0858597 | well differentiated malignant hemangiopericytoma | NCIT:C9392 | MONDO:equivalentTo | Well Differentiated Malignant Hemangiopericytoma | | MONDO:0009330 | -| MONDO:0858598 | malignant hemangiopericytoma nci grade 2 | NCIT:C9393 | MONDO:equivalentTo | Malignant Hemangiopericytoma NCI Grade 2 | | MONDO:0002789 | -| MONDO:0858599 | malignant hemangiopericytoma nci grade 3 | NCIT:C9394 | MONDO:equivalentTo | Malignant Hemangiopericytoma NCI Grade 3 | | MONDO:0002789 | -| MONDO:0858600 | round cell liposarcoma nci grade 2 | NCIT:C9401 | MONDO:equivalentTo | Round Cell Liposarcoma NCI Grade 2 | | MONDO:0005238 | -| MONDO:0858601 | round cell liposarcoma nci grade 3 | NCIT:C9402 | MONDO:equivalentTo | Round Cell Liposarcoma NCI Grade 3 | | MONDO:0005238 | -| MONDO:0858603 | childhood hematopoietic and lymphoid cell neoplasm | NCIT:C9431 | MONDO:equivalentTo | Childhood Hematopoietic and Lymphoid Cell Neoplasm | | MONDO:0021079|MONDO:0044881 | -| MONDO:0858619 | grade 1 colorectal adenocarcinoma | NCIT:C9446 | MONDO:equivalentTo | Grade 1 Colorectal Adenocarcinoma | | MONDO:0005008 | -| MONDO:0858620 | grade 2 colorectal adenocarcinoma | NCIT:C9447 | MONDO:equivalentTo | Grade 2 Colorectal Adenocarcinoma | | MONDO:0005008 | -| MONDO:0858621 | grade 3 colorectal adenocarcinoma | NCIT:C9448 | MONDO:equivalentTo | Grade 3 Colorectal Adenocarcinoma | | MONDO:0005008 | -| MONDO:0858623 | spindle cell oncocytoma | NCIT:C94537 | MONDO:equivalentTo | Spindle Cell Oncocytoma | | MONDO:0003257|MONDO:0010795 | -| MONDO:0858625 | breast ductal carcinoma in situ, intermediate grade | NCIT:C9456 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Intermediate Grade | | MONDO:0005023 | -| MONDO:0858626 | breast ductal carcinoma in situ, low grade | NCIT:C9457 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Low Grade | | MONDO:0005023 | -| MONDO:0858627 | borderline ovarian brenner tumor | NCIT:C9459 | MONDO:equivalentTo | Borderline Ovarian Brenner Tumor | | MONDO:0016093|MONDO:0002370 | -| MONDO:0858628 | systemic anaplastic large cell lymphoma | NCIT:C9470 | MONDO:equivalentTo | Systemic Anaplastic Large Cell Lymphoma | | MONDO:0020325 | -| MONDO:0858630 | meningeal leukemia | NCIT:C94754 | MONDO:equivalentTo | Meningeal Leukemia | | MONDO:0001606|MONDO:0700219 | -| MONDO:0858631 | meningeal lymphoma | NCIT:C94756 | MONDO:equivalentTo | Meningeal Lymphoma | | MONDO:0002571|MONDO:0021322 | -| MONDO:0858632 | multifocal breast carcinoma | NCIT:C94770 | MONDO:equivalentTo | Multifocal Breast Carcinoma | | MONDO:0004989 | -| MONDO:0858633 | multicentric breast carcinoma | NCIT:C94772 | MONDO:equivalentTo | Multicentric Breast Carcinoma | | MONDO:0004989 | -| MONDO:0858634 | early stage breast carcinoma | NCIT:C94774 | MONDO:equivalentTo | Early Stage Breast Carcinoma | | MONDO:0004989 | -| MONDO:0858635 | hereditary malignant neoplasm | NCIT:C9479 | MONDO:equivalentTo | Hereditary Malignant Neoplasm | | MONDO:0004992 | -| MONDO:0858637 | stage i borderline ovarian surface epithelial-stromal tumor | NCIT:C94821 | MONDO:equivalentTo | Stage I Borderline Ovarian Surface Epithelial-Stromal Tumor | | MONDO:0016093 | -| MONDO:0858638 | stage ii borderline ovarian surface epithelial-stromal tumor | NCIT:C94822 | MONDO:equivalentTo | Stage II Borderline Ovarian Surface Epithelial-Stromal Tumor | | MONDO:0016093 | -| MONDO:0858639 | stage iii borderline ovarian surface epithelial-stromal tumor | NCIT:C94824 | MONDO:equivalentTo | Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor | | MONDO:0016093 | -| MONDO:0858640 | stage iv borderline ovarian surface epithelial-stromal tumor | NCIT:C94825 | MONDO:equivalentTo | Stage IV Borderline Ovarian Surface Epithelial-Stromal Tumor | | MONDO:0016093 | -| MONDO:0858648 | melanocytoma | NCIT:C9498 | MONDO:equivalentTo | Melanocytoma | | MONDO:0021143 | -| MONDO:0858649 | myolipoma | NCIT:C9502 | MONDO:equivalentTo | Myolipoma | | MONDO:0005106 | -| MONDO:0858650 | thymoliposarcoma | NCIT:C95038 | MONDO:equivalentTo | Thymoliposarcoma | | MONDO:0003601|MONDO:0002586 | -| MONDO:0858651 | ectopic cervical thymoma | NCIT:C95048 | MONDO:equivalentTo | Ectopic Cervical Thymoma | | MONDO:0006456|MONDO:0021351 | -| MONDO:0858656 | intramucosal adenocarcinoma | NCIT:C95397 | MONDO:equivalentTo | Intramucosal Adenocarcinoma | | MONDO:0004970 | -| MONDO:0858658 | pancreatic well differentiated ductal adenocarcinoma | NCIT:C95426 | MONDO:equivalentTo | Pancreatic Well Differentiated Ductal Adenocarcinoma | | MONDO:0005184 | -| MONDO:0858659 | pancreatic moderately differentiated ductal adenocarcinoma | NCIT:C95427 | MONDO:equivalentTo | Pancreatic Moderately Differentiated Ductal Adenocarcinoma | | MONDO:0005184 | -| MONDO:0858660 | pancreatic poorly differentiated ductal adenocarcinoma | NCIT:C95428 | MONDO:equivalentTo | Pancreatic Poorly Differentiated Ductal Adenocarcinoma | | MONDO:0005184 | -| MONDO:0858661 | pancreatic mixed acinar-ductal carcinoma | NCIT:C95458 | MONDO:equivalentTo | Pancreatic Mixed Acinar-Ductal Carcinoma | | MONDO:0006047 | -| MONDO:0858662 | pancreatic mixed ductal adenocarcinoma-acinar carcinoma-neuroendocrine carcinoma | NCIT:C95460 | MONDO:equivalentTo | Pancreatic Mixed Ductal Adenocarcinoma-Acinar Carcinoma-Neuroendocrine Carcinoma | | MONDO:0044727 | -| MONDO:0858663 | pancreatic hepatoid adenocarcinoma | NCIT:C95465 | MONDO:equivalentTo | Pancreatic Hepatoid Adenocarcinoma | | MONDO:0005184|MONDO:0006243 | -| MONDO:0858664 | pancreatic medullary carcinoma | NCIT:C95466 | MONDO:equivalentTo | Pancreatic Medullary Carcinoma | | MONDO:0005184 | -| MONDO:0858665 | pancreatic serous adenoma | NCIT:C95470 | MONDO:equivalentTo | Pancreatic Serous Adenoma | | MONDO:0021441|MONDO:0002810|MONDO:0036976 | -| MONDO:0858666 | pancreatic intraductal neoplasm | NCIT:C95505 | MONDO:equivalentTo | Pancreatic Intraductal Neoplasm | | MONDO:0024276|MONDO:0021076 | -| MONDO:0858667 | pancreatic intraductal papillary mucinous neoplasm, gastric-type | NCIT:C95508 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type | | MONDO:0004286 | -| MONDO:0858668 | pancreatic intraductal papillary mucinous neoplasm, intestinal-type | NCIT:C95510 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type | | MONDO:0004286 | -| MONDO:0858669 | pancreatic intraductal papillary mucinous neoplasm, pancreatobiliary-type | NCIT:C95512 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type | | MONDO:0004286 | -| MONDO:0858675 | non-functioning pancreatic neuroendocrine tumor g1 | NCIT:C95585 | MONDO:equivalentTo | Non-Functioning Pancreatic Neuroendocrine Tumor G1 | | MONDO:0021535|MONDO:0004334 | -| MONDO:0858676 | pancreatic vipoma | NCIT:C95599 | MONDO:equivalentTo | Pancreatic Vipoma | | MONDO:0023206|MONDO:0003622 | -| MONDO:0858677 | esophageal spindle cell carcinoma | NCIT:C95608 | MONDO:equivalentTo | Esophageal Spindle Cell Carcinoma | | MONDO:0005580|MONDO:0021663 | -| MONDO:0858678 | esophageal well differentiated squamous cell carcinoma | NCIT:C95610 | MONDO:equivalentTo | Esophageal Well Differentiated Squamous Cell Carcinoma | | MONDO:0005580 | -| MONDO:0858679 | esophageal moderately differentiated squamous cell carcinoma | NCIT:C95611 | MONDO:equivalentTo | Esophageal Moderately Differentiated Squamous Cell Carcinoma | | MONDO:0005580 | -| MONDO:0858680 | esophageal poorly differentiated squamous cell carcinoma | NCIT:C95612 | MONDO:equivalentTo | Esophageal Poorly Differentiated Squamous Cell Carcinoma | | MONDO:0005580 | -| MONDO:0858681 | esophageal mixed adenoneuroendocrine carcinoma | NCIT:C95621 | MONDO:equivalentTo | Esophageal Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0019086 | -| MONDO:0858683 | esophageal synovial sarcoma | NCIT:C95624 | MONDO:equivalentTo | Esophageal Synovial Sarcoma | | MONDO:0001204|MONDO:0010434 | -| MONDO:0858686 | gastric adenoma, gastric-type | NCIT:C95775 | MONDO:equivalentTo | Gastric Adenoma, Gastric-Type | | MONDO:0006221 | -| MONDO:0858689 | gastric mixed adenoneuroendocrine carcinoma | NCIT:C95886 | MONDO:equivalentTo | Gastric Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0004950 | -| MONDO:0858691 | gastric schwannoma | NCIT:C95901 | MONDO:equivalentTo | Gastric Schwannoma | | MONDO:0004820|MONDO:0021449 | -| MONDO:0858693 | ampulla of vater pancreatobiliary type adenocarcinoma | NCIT:C95963 | MONDO:equivalentTo | Ampulla of Vater Pancreatobiliary Type Adenocarcinoma | | MONDO:0002670 | -| MONDO:0858694 | ampulla of vater hepatoid adenocarcinoma | NCIT:C95966 | MONDO:equivalentTo | Ampulla of Vater Hepatoid Adenocarcinoma | | MONDO:0006243|MONDO:0002670 | -| MONDO:0858695 | ampulla of vater neuroendocrine neoplasm | NCIT:C95980 | MONDO:equivalentTo | Ampulla of Vater Neuroendocrine Neoplasm | | MONDO:0000921|MONDO:0024503 | -| MONDO:0858696 | ampulla of vater mixed adenoneuroendocrine carcinoma | NCIT:C95986 | MONDO:equivalentTo | Ampulla of Vater Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0017590 | -| MONDO:0858702 | intestinal neuroendocrine tumor | NCIT:C96062 | MONDO:equivalentTo | Intestinal Neuroendocrine Tumor | | MONDO:0000386|MONDO:0002883 | -| MONDO:0858703 | small intestinal mixed adenoneuroendocrine carcinoma | NCIT:C96066 | MONDO:equivalentTo | Small Intestinal Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0005522 | -| MONDO:0858705 | colorectal neuroendocrine neoplasm | NCIT:C96152 | MONDO:equivalentTo | Colorectal Neuroendocrine Neoplasm | | MONDO:0002883|MONDO:0005335 | -| MONDO:0858706 | colorectal mixed adenoneuroendocrine carcinoma | NCIT:C96158 | MONDO:equivalentTo | Colorectal Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0024331 | -| MONDO:0858707 | digestive system neuroendocrine tumor g2 | NCIT:C96166 | MONDO:equivalentTo | Digestive System Neuroendocrine Tumor G2 | | MONDO:0000386|MONDO:0006095 | -| MONDO:0858715 | serrated lesions and polyps | NCIT:C96414 | MONDO:equivalentTo | Serrated Lesions and Polyps | | MONDO:0006180 | -| MONDO:0858717 | appendix enterochromaffin cell serotonin-producing neuroendocrine tumor | NCIT:C96424 | MONDO:equivalentTo | Appendix Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor | | MONDO:0015066 | -| MONDO:0858721 | rectal serrated lesions and polyps | NCIT:C96465 | MONDO:equivalentTo | Rectal Serrated Lesions and Polyps | | MONDO:0006164|MONDO:0000530|MONDO:0021398 | -| MONDO:0858725 | colon serrated adenocarcinoma | NCIT:C96486 | MONDO:equivalentTo | Colon Serrated Adenocarcinoma | | MONDO:0006163|MONDO:0002271 | -| MONDO:0858726 | rectal serrated adenocarcinoma | NCIT:C96487 | MONDO:equivalentTo | Rectal Serrated Adenocarcinoma | | MONDO:0006163|MONDO:0002169 | -| MONDO:0858729 | colorectal sarcomatoid carcinoma | NCIT:C96494 | MONDO:equivalentTo | Colorectal Sarcomatoid Carcinoma | | MONDO:0024331|MONDO:0006406 | -| MONDO:0858735 | colorectal schwannoma | NCIT:C96512 | MONDO:equivalentTo | Colorectal Schwannoma | | MONDO:0021444|MONDO:0004820 | -| MONDO:0858736 | colorectal ganglioneuroma | NCIT:C96514 | MONDO:equivalentTo | Colorectal Ganglioneuroma | | MONDO:0021444|MONDO:0005033 | -| MONDO:0858737 | colorectal benign granular cell tumor | NCIT:C96516 | MONDO:equivalentTo | Colorectal Benign Granular Cell Tumor | | MONDO:0021444|MONDO:0003250 | -| MONDO:0858738 | anal canal undifferentiated carcinoma | NCIT:C96529 | MONDO:equivalentTo | Anal Canal Undifferentiated Carcinoma | | MONDO:0007108|MONDO:0005617 | -| MONDO:0858741 | anal canal mixed adenoneuroendocrine carcinoma | NCIT:C96553 | MONDO:equivalentTo | Anal Canal Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0007108 | -| MONDO:0858742 | anal canal squamous papilloma | NCIT:C96554 | MONDO:equivalentTo | Anal Canal Squamous Papilloma | | MONDO:0021469|MONDO:0060766|MONDO:0001825 | -| MONDO:0858743 | anal hidradenoma papilliferum | NCIT:C96699 | MONDO:equivalentTo | Anal Hidradenoma Papilliferum | | MONDO:0021469|MONDO:0003446 | -| MONDO:0858745 | hnf1alpha-inactivated hepatocellular adenoma | NCIT:C96758 | MONDO:equivalentTo | HNF1alpha-Inactivated Hepatocellular Adenoma | | MONDO:0018902 | -| MONDO:0858746 | beta-catenin-activated hepatocellular adenoma | NCIT:C96759 | MONDO:equivalentTo | Beta-Catenin-Activated Hepatocellular Adenoma | | MONDO:0018902 | -| MONDO:0858747 | inflammatory hepatocellular adenoma | NCIT:C96760 | MONDO:equivalentTo | Inflammatory Hepatocellular Adenoma | | MONDO:0018902 | -| MONDO:0858748 | unclassified hepatocellular adenoma | NCIT:C96761 | MONDO:equivalentTo | Unclassified Hepatocellular Adenoma | | MONDO:0018902 | -| MONDO:0858750 | liver neuroendocrine neoplasm | NCIT:C96786 | MONDO:equivalentTo | Liver Neuroendocrine Neoplasm | | MONDO:0024477|MONDO:0024503 | -| MONDO:0858751 | lymphocyte-rich hepatocellular carcinoma | NCIT:C96788 | MONDO:equivalentTo | Lymphocyte-Rich Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0858752 | well differentiated hepatocellular carcinoma | NCIT:C96789 | MONDO:equivalentTo | Well Differentiated Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0858753 | moderately differentiated hepatocellular carcinoma | NCIT:C96790 | MONDO:equivalentTo | Moderately Differentiated Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0858754 | poorly differentiated hepatocellular carcinoma | NCIT:C96791 | MONDO:equivalentTo | Poorly Differentiated Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0858755 | liver undifferentiated carcinoma | NCIT:C96792 | MONDO:equivalentTo | Liver Undifferentiated Carcinoma | | MONDO:0018531|MONDO:0005617 | -| MONDO:0858756 | small duct intrahepatic cholangiocarcinoma | NCIT:C96805 | MONDO:equivalentTo | Small Duct Intrahepatic Cholangiocarcinoma | | MONDO:0003210 | -| MONDO:0858757 | bile duct intraductal papillary neoplasm with an associated invasive carcinoma | NCIT:C96810 | MONDO:equivalentTo | Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma | | MONDO:0003455|MONDO:0003193 | -| MONDO:0858758 | extrahepatic bile duct tubulopapillary adenoma | NCIT:C96811 | MONDO:equivalentTo | Extrahepatic Bile Duct Tubulopapillary Adenoma | | MONDO:0003445|MONDO:0024661 | -| MONDO:0858760 | liver synovial sarcoma | NCIT:C96845 | MONDO:equivalentTo | Liver Synovial Sarcoma | | MONDO:0002397|MONDO:0010434 | -| MONDO:0858761 | liver carcinosarcoma | NCIT:C96848 | MONDO:equivalentTo | Liver Carcinosarcoma | | MONDO:0018531|MONDO:0002928 | -| MONDO:0858765 | gallbladder mucinous cystic neoplasm | NCIT:C96881 | MONDO:equivalentTo | Gallbladder Mucinous Cystic Neoplasm | | MONDO:0021253 | -| MONDO:0858766 | gallbladder carcinosarcoma | NCIT:C96888 | MONDO:equivalentTo | Gallbladder Carcinosarcoma | | MONDO:0003220|MONDO:0002928 | -| MONDO:0858767 | gallbladder hepatoid adenocarcinoma | NCIT:C96890 | MONDO:equivalentTo | Gallbladder Hepatoid Adenocarcinoma | | MONDO:0006215|MONDO:0006243 | -| MONDO:0858768 | gallbladder cribriform carcinoma | NCIT:C96891 | MONDO:equivalentTo | Gallbladder Cribriform Carcinoma | | MONDO:0006215|MONDO:0006176 | -| MONDO:0858769 | gallbladder adenocarcinoma, biliary type | NCIT:C96915 | MONDO:equivalentTo | Gallbladder Adenocarcinoma, Biliary Type | | MONDO:0006215|MONDO:0005606 | -| MONDO:0858770 | gallbladder adenocarcinoma, gastric foveolar type | NCIT:C96916 | MONDO:equivalentTo | Gallbladder Adenocarcinoma, Gastric Foveolar Type | | MONDO:0006215 | -| MONDO:0858774 | gallbladder mixed adenoneuroendocrine carcinoma | NCIT:C96927 | MONDO:equivalentTo | Gallbladder Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0003220 | -| MONDO:0858775 | gallbladder tubular carcinoid | NCIT:C96930 | MONDO:equivalentTo | Gallbladder Tubular Carcinoid | | MONDO:0015073 | -| MONDO:0858776 | extrahepatic bile duct adenocarcinoma, biliary type | NCIT:C96936 | MONDO:equivalentTo | Extrahepatic Bile Duct Adenocarcinoma, Biliary Type | | MONDO:0002665|MONDO:0005606 | -| MONDO:0858777 | extrahepatic bile duct adenocarcinoma, gastric foveolar type | NCIT:C96937 | MONDO:equivalentTo | Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type | | MONDO:0002665 | -| MONDO:0858778 | extrahepatic bile duct adenocarcinoma, intestinal type | NCIT:C96938 | MONDO:equivalentTo | Extrahepatic Bile Duct Adenocarcinoma, Intestinal Type | | MONDO:0002665 | -| MONDO:0858779 | extrahepatic bile duct carcinosarcoma | NCIT:C96939 | MONDO:equivalentTo | Extrahepatic Bile Duct Carcinosarcoma | | MONDO:0003090|MONDO:0002928 | -| MONDO:0858780 | extrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma | NCIT:C96946 | MONDO:equivalentTo | Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma | | MONDO:0002665|MONDO:0004462|MONDO:0002868 | -| MONDO:0858781 | intrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma | NCIT:C96947 | MONDO:equivalentTo | Intrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma | | MONDO:0003979|MONDO:0018531|MONDO:0002868 | -| MONDO:0858783 | extrahepatic bile duct lymphoma | NCIT:C96952 | MONDO:equivalentTo | Extrahepatic Bile Duct Lymphoma | | MONDO:0021321|MONDO:0004699 | -| MONDO:0858785 | extrahepatic bile duct neuroendocrine neoplasm | NCIT:C96954 | MONDO:equivalentTo | Extrahepatic Bile Duct Neuroendocrine Neoplasm | | MONDO:0021385|MONDO:0024503 | -| MONDO:0858786 | extrahepatic bile duct mixed adenoneuroendocrine carcinoma | NCIT:C96959 | MONDO:equivalentTo | Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma | | MONDO:0006182|MONDO:0003090 | -| MONDO:0858788 | invasive breast lobular carcinoma, alveolar variant | NCIT:C97049 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Alveolar Variant | | MONDO:0005051 | -| MONDO:0858789 | invasive breast lobular carcinoma, pleomorphic variant | NCIT:C97051 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Pleomorphic Variant | | MONDO:0005051 | -| MONDO:0858790 | invasive breast lobular carcinoma, solid variant | NCIT:C97052 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Solid Variant | | MONDO:0005051 | -| MONDO:0858791 | invasive breast lobular carcinoma, tubulolobular variant | NCIT:C97053 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Tubulolobular Variant | | MONDO:0005051 | -| MONDO:0858792 | mixed congenital mesoblastic nephroma | NCIT:C97058 | MONDO:equivalentTo | Mixed Congenital Mesoblastic Nephroma | | MONDO:0017043|MONDO:0005853 | -| MONDO:0858851 | contralateral breast carcinoma | NCIT:C99390 | MONDO:equivalentTo | Contralateral Breast Carcinoma | | MONDO:0003982 | -| MONDO:0859471 | neoplastic medium-sized lymphocyte | NCIT:C37004 | MONDO:equivalentTo | Neoplastic Medium-Sized Lymphocyte | | | -| MONDO:0859472 | neoplastic b-lymphocyte | NCIT:C38640 | MONDO:equivalentTo | Neoplastic B-Lymphocyte | | | -| MONDO:0859554 | medaka melanoma | NCIT:C134572 | MONDO:equivalentTo | Medaka Melanoma | | MONDO:0700196 | -| MONDO:0859555 | xiphophorus melanoma | NCIT:C134575 | MONDO:equivalentTo | Xiphophorus Melanoma | | MONDO:0700196 | -| MONDO:0859556 | non-human or experimental organism neoplasm | NCIT:C134576 | MONDO:equivalentTo | Non-Human or Experimental Organism Neoplasm | | | -| MONDO:0859560 | tubulostromal adenoma | NCIT:C79953 | MONDO:equivalentTo | Tubulostromal Adenoma | | | -| MONDO:0859561 | tubulostromal adenocarcinoma | NCIT:C80356 | MONDO:equivalentTo | Tubulostromal Adenocarcinoma | | | -| MONDO:0859730 | vaginal non-keratinizing squamous cell carcinoma | NCIT:C40244 | MONDO:equivalentTo | Vaginal Non-Keratinizing Squamous Cell Carcinoma | | MONDO:0006490 | -| MONDO:0860042 | lymphoproliferative disease associated with primary immune disorder | NCIT:C150673 | MONDO:equivalentTo | Lymphoproliferative Disease Associated with Primary Immune Disorder | | | -| MONDO:0860043 | genitourinary system disorder | NCIT:C156660 | MONDO:equivalentTo | Genitourinary System Disorder | | | -| MONDO:0860044 | recurrent hiv-related lymphoproliferative disorder | NCIT:C157685 | MONDO:equivalentTo | Recurrent HIV-Related Lymphoproliferative Disorder | | | -| MONDO:0860045 | refractory hiv-related lymphoproliferative disorder | NCIT:C157687 | MONDO:equivalentTo | Refractory HIV-Related Lymphoproliferative Disorder | | | -| MONDO:0860046 | hiv-related lymphoproliferative disorder | NCIT:C157709 | MONDO:equivalentTo | HIV-Related Lymphoproliferative Disorder | | | -| MONDO:0860047 | ebv-related lymphoproliferative disease with primary immunodeficiency | NCIT:C160150 | MONDO:equivalentTo | EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency | | | -| MONDO:0860048 | recurrent ebv-related lymphoproliferative disease with primary immunodeficiency | NCIT:C160151 | MONDO:equivalentTo | Recurrent EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency | | | -| MONDO:0860049 | refractory ebv-related lymphoproliferative disease with primary immunodeficiency | NCIT:C160152 | MONDO:equivalentTo | Refractory EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency | | | -| MONDO:0860050 | tonsillar disorder | NCIT:C173797 | MONDO:equivalentTo | Tonsillar Disorder | | | -| MONDO:0860051 | soft tissue disorder | NCIT:C27042 | MONDO:equivalentTo | Soft Tissue Disorder | | | -| MONDO:0860052 | connective and soft tissue disorder | NCIT:C27574 | MONDO:equivalentTo | Connective and Soft Tissue Disorder | | | -| MONDO:0860053 | neck disorder | NCIT:C27648 | MONDO:equivalentTo | Neck Disorder | | | -| MONDO:0860054 | peritoneal and retroperitoneal disorder | NCIT:C27664 | MONDO:equivalentTo | Peritoneal and Retroperitoneal Disorder | | | -| MONDO:0860055 | female reproductive system precancerous condition | NCIT:C27788 | MONDO:equivalentTo | Female Reproductive System Precancerous Condition | | | -| MONDO:0860056 | tobacco use disorder | NCIT:C35074 | MONDO:equivalentTo | Tobacco Use Disorder | | | -| MONDO:0860057 | sternal disorder | NCIT:C35744 | MONDO:equivalentTo | Sternal Disorder | | | -| MONDO:0860058 | chest wall disorder | NCIT:C35745 | MONDO:equivalentTo | Chest Wall Disorder | | | -| MONDO:0860059 | axillary disorder | NCIT:C35746 | MONDO:equivalentTo | Axillary Disorder | | | -| MONDO:0860060 | hematopoietic and lymphatic system disorder | NCIT:C35814 | MONDO:equivalentTo | Hematopoietic and Lymphatic System Disorder | | | -| MONDO:0860062 | anal precancerous condition | NCIT:C7407 | MONDO:equivalentTo | Anal Precancerous Condition | | | -| MONDO:0860063 | esophageal precancerous condition | NCIT:C7423 | MONDO:equivalentTo | Esophageal Precancerous Condition | | | -| MONDO:0860064 | gastric precancerous condition | NCIT:C7424 | MONDO:equivalentTo | Gastric Precancerous Condition | | | -| MONDO:0860065 | pulmonary precancerous condition | NCIT:C7435 | MONDO:equivalentTo | Pulmonary Precancerous Condition | | | -| MONDO:0860066 | hepatobiliary precancerous condition | NCIT:C7655 | MONDO:equivalentTo | Hepatobiliary Precancerous Condition | | | -| MONDO:0860067 | intestinal precancerous condition | NCIT:C7657 | MONDO:equivalentTo | Intestinal Precancerous Condition | | | -| MONDO:0860068 | digestive system precancerous condition | NCIT:C7659 | MONDO:equivalentTo | Digestive System Precancerous Condition | | | -| MONDO:0860069 | cutaneous precancerous condition | NCIT:C8957 | MONDO:equivalentTo | Cutaneous Precancerous Condition | | | -| MONDO:0860070 | neonatal disorder | NCIT:C98996 | MONDO:equivalentTo | Neonatal Disorder | | | -| MONDO:0950158 | core binding factor acute myeloid leukemia | NCIT:C122688 | MONDO:equivalentTo | Core Binding Factor Acute Myeloid Leukemia | | MONDO:0020078 | -| MONDO:0955884 | adult acute eosinophilic leukemia | NCIT:C7963 | MONDO:equivalentTo | Adult Acute Eosinophilic Leukemia | | MONDO:0043881 | -| MONDO:0956044 | acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13.3;q13.1); rbm15-mkl1 | NCIT:C82427 | MONDO:equivalentTo | Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 | | MONDO:0020078 | -| MONDO:0956704 | childhood acute eosinophilic leukemia | NCIT:C9165 | MONDO:equivalentTo | Childhood Acute Eosinophilic Leukemia | | MONDO:0043881 | -| MONDO:0956756 | acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); cbfb-myh11 | NCIT:C9287 | MONDO:equivalentTo | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | | MONDO:0020078 | -| MONDO:0956757 | acute myeloid leukemia with t(8;21)(q22; q22.1); runx1-runx1t1 | NCIT:C9288 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 | | MONDO:0020078 | -| MONDO:0957380 | cic-rearranged sarcoma | NCIT:C120224 | MONDO:equivalentTo | CIC-Rearranged Sarcoma | | MONDO:0858921 | -| MONDO:0957623 | smoldering systemic mastocytosis | NCIT:C115460 | MONDO:equivalentTo | Smoldering Systemic Mastocytosis | | MONDO:0016586 | -| MONDO:0957624 | indolent clonal t-cell lymphoproliferative disorder of the gastrointestinal tract | NCIT:C139021 | MONDO:equivalentTo | Indolent Clonal T-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract | | MONDO:0005169 | -| MONDO:0957625 | penile adenosquamous carcinoma | NCIT:C159248 | MONDO:equivalentTo | Penile Adenosquamous Carcinoma | | MONDO:0006360|MONDO:0006074 | -| MONDO:0957626 | seminal vesicle soft tissue neoplasm | NCIT:C161637 | MONDO:equivalentTo | Seminal Vesicle Soft Tissue Neoplasm | | MONDO:0002790|MONDO:0006424 | -| MONDO:0957627 | hepatocellular malignant neoplasm, not otherwise specified | NCIT:C161838 | MONDO:equivalentTo | Hepatocellular Malignant Neoplasm, Not Otherwise Specified | | MONDO:0018666 | -| MONDO:0957628 | epididymal melanotic neuroectodermal tumor | NCIT:C162488 | MONDO:equivalentTo | Epididymal Melanotic Neuroectodermal Tumor | | MONDO:0002072|MONDO:0021473 | -| MONDO:0957629 | systemic mastocytosis with an associated germ cell tumor | NCIT:C186735 | MONDO:equivalentTo | Systemic Mastocytosis with an Associated Germ Cell Tumor | | MONDO:0016586 | -| MONDO:0957630 | estrogen receptor-positive breast carcinoma | NCIT:C188366 | MONDO:equivalentTo | Estrogen Receptor-Positive Breast Carcinoma | | | -| MONDO:0957631 | childhood myelodysplastic syndrome with excess blasts | NCIT:C188449 | MONDO:equivalentTo | Childhood Myelodysplastic Syndrome with Excess Blasts | | MONDO:0019454|MONDO:0044873 | -| MONDO:0957632 | childhood acute myeloid leukemia with t(9;11)(p21.3;q23.3); mllt3-kmt2a | NCIT:C188451 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A | | MONDO:0004996|MONDO:0020317 | -| MONDO:0957633 | lung small cell carcinoma neuroendocrine subtype | NCIT:C188753 | MONDO:equivalentTo | Lung Small Cell Carcinoma Neuroendocrine Subtype | | MONDO:0008433 | -| MONDO:0957634 | lung small cell carcinoma molecular subtypes | NCIT:C188756 | MONDO:equivalentTo | Lung Small Cell Carcinoma Molecular Subtypes | | MONDO:0008433 | -| MONDO:0957635 | adult ganglioneuroma | NCIT:C188947 | MONDO:equivalentTo | Adult Ganglioneuroma | | MONDO:0005033 | -| MONDO:0957636 | childhood nervous system neoplasm | NCIT:C188950 | MONDO:equivalentTo | Childhood Nervous System Neoplasm | | MONDO:0021079|MONDO:0021248 | -| MONDO:0957637 | choroidal ganglioneuroma | NCIT:C188956 | MONDO:equivalentTo | Choroidal Ganglioneuroma | | MONDO:0021487|MONDO:0005033 | -| MONDO:0957638 | childhood connective and soft tissue neoplasm | NCIT:C188963 | MONDO:equivalentTo | Childhood Connective and Soft Tissue Neoplasm | | MONDO:0021079|MONDO:0044334 | -| MONDO:0957639 | childhood low grade fibromyxoid sarcoma | NCIT:C188970 | MONDO:equivalentTo | Childhood Low Grade Fibromyxoid Sarcoma | | MONDO:0002678|MONDO:0006272 | -| MONDO:0957640 | extragonadal teratoma | NCIT:C189045 | MONDO:equivalentTo | Extragonadal Teratoma | | MONDO:0018201|MONDO:0002601 | -| MONDO:0957641 | testicular teratoma, postpubertal-type | NCIT:C189057 | MONDO:equivalentTo | Testicular Teratoma, Postpubertal-Type | | MONDO:0003510|MONDO:0018193 | -| MONDO:0957642 | kidney carcinoma molecular subtypes | NCIT:C189241 | MONDO:equivalentTo | Kidney Carcinoma Molecular Subtypes | | MONDO:0005206 | -| MONDO:0957644 | ovarian sertoli-leydig cell tumor molecular subtypes | NCIT:C189319 | MONDO:equivalentTo | Ovarian Sertoli-Leydig Cell Tumor Molecular Subtypes | | MONDO:0036595 | -| MONDO:0957645 | mullerian papilloma | NCIT:C189336 | MONDO:equivalentTo | Mullerian Papilloma | | MONDO:0021078 | -| MONDO:0957646 | childhood breast neoplasm | NCIT:C189338 | MONDO:equivalentTo | Childhood Breast Neoplasm | | MONDO:0021079|MONDO:0021100 | -| MONDO:0957647 | childhood digestive system neoplasm | NCIT:C189869 | MONDO:equivalentTo | Childhood Digestive System Neoplasm | | MONDO:0021079|MONDO:0021223 | -| MONDO:0957648 | epithelial hepatoblastoma | NCIT:C189923 | MONDO:equivalentTo | Epithelial Hepatoblastoma | | MONDO:0018666 | -| MONDO:0957649 | non-teratoid hepatoblastoma | NCIT:C189926 | MONDO:equivalentTo | Non-Teratoid Hepatoblastoma | | MONDO:0003650 | -| MONDO:0957650 | hepatoblastoma by pretext stage | NCIT:C189927 | MONDO:equivalentTo | Hepatoblastoma by PRETEXT Stage | | MONDO:0018666 | -| MONDO:0957651 | hepatoblastoma by postsurgical stage | NCIT:C189929 | MONDO:equivalentTo | Hepatoblastoma by Postsurgical Stage | | MONDO:0018666 | -| MONDO:0957652 | childhood fibrolamellar carcinoma | NCIT:C189932 | MONDO:equivalentTo | Childhood Fibrolamellar Carcinoma | | MONDO:0018055|MONDO:0006210 | -| MONDO:0957653 | childhood endocrine neoplasm | NCIT:C190056 | MONDO:equivalentTo | Childhood Endocrine Neoplasm | | MONDO:0021079|MONDO:0002082 | -| MONDO:0957654 | childhood thoracic neoplasm | NCIT:C190090 | MONDO:equivalentTo | Childhood Thoracic Neoplasm | | MONDO:0021079|MONDO:0021350 | -| MONDO:0957655 | childhood head and neck neoplasm | NCIT:C190119 | MONDO:equivalentTo | Childhood Head and Neck Neoplasm | | MONDO:0021079|MONDO:0005586 | -| MONDO:0957656 | childhood skin neoplasm | NCIT:C190123 | MONDO:equivalentTo | Childhood Skin Neoplasm | | MONDO:0021079|MONDO:0002531 | -| MONDO:0957657 | childhood carcinoma | NCIT:C190275 | MONDO:equivalentTo | Childhood Carcinoma | | MONDO:0004993|MONDO:0036491 | -| MONDO:0957658 | refractory t/nk-cell lymphoproliferative disorder | NCIT:C190397 | MONDO:equivalentTo | Refractory T/NK-Cell Lymphoproliferative Disorder | | | -| MONDO:0957659 | recurrent t/nk-cell lymphoproliferative disorder | NCIT:C190398 | MONDO:equivalentTo | Recurrent T/NK-Cell Lymphoproliferative Disorder | | | -| MONDO:0957660 | ebv-related t/nk-cell lymphoproliferative disorder | NCIT:C190402 | MONDO:equivalentTo | EBV-Related T/NK-Cell Lymphoproliferative Disorder | | | -| MONDO:0957661 | childhood benign neoplasm | NCIT:C190573 | MONDO:equivalentTo | Childhood Benign Neoplasm | | MONDO:0021079|MONDO:0005165 | -| MONDO:0957662 | benign liver neoplasm | NCIT:C190592 | MONDO:equivalentTo | Benign Liver Neoplasm | | MONDO:0024477|MONDO:0000385 | -| MONDO:0957663 | high grade endometrial carcinoma | NCIT:C190680 | MONDO:equivalentTo | High Grade Endometrial Carcinoma | | MONDO:0002447 | -| MONDO:0957664 | iridociliary melanoma | NCIT:C190746 | MONDO:equivalentTo | Iridociliary Melanoma | | MONDO:0006486 | -| MONDO:0957665 | b acute lymphoblastic leukemia associated with down syndrome | NCIT:C190847 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia Associated with Down Syndrome | | MONDO:0020511 | -| MONDO:0957666 | androgen receptor-positive breast carcinoma | NCIT:C190851 | MONDO:equivalentTo | Androgen Receptor-Positive Breast Carcinoma | | | -| MONDO:0957667 | b lymphoblastic leukemia/lymphoma with etv6-runx1-like features | NCIT:C190956 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1-Like Features | | MONDO:0035605 | -| MONDO:0957668 | renal cell carcinoma, not otherwise specified | NCIT:C191370 | MONDO:equivalentTo | Renal Cell Carcinoma, Not Otherwise Specified | | MONDO:0005549 | -| MONDO:0957669 | kidney classic angiomyolipoma | NCIT:C191391 | MONDO:equivalentTo | Kidney Classic Angiomyolipoma | | MONDO:0002513|MONDO:0004555 | -| MONDO:0957670 | secondary plasma cell leukemia | NCIT:C191432 | MONDO:equivalentTo | Secondary Plasma Cell Leukemia | | MONDO:0024881|MONDO:0018689 | -| MONDO:0957671 | papillary urothelial neoplasm of low malignant potential | NCIT:C191672 | MONDO:equivalentTo | Papillary Urothelial Neoplasm of Low Malignant Potential | | MONDO:0003755|MONDO:0003443 | -| MONDO:0957672 | invasive lymphoepithelioma-like urothelial carcinoma | NCIT:C191678 | MONDO:equivalentTo | Invasive Lymphoepithelioma-Like Urothelial Carcinoma | | MONDO:0003572|MONDO:0040678 | -| MONDO:0957673 | invasive giant cell urothelial carcinoma | NCIT:C191679 | MONDO:equivalentTo | Invasive Giant Cell Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957674 | invasive urothelial carcinoma with glandular differentiation | NCIT:C191680 | MONDO:equivalentTo | Invasive Urothelial Carcinoma with Glandular Differentiation | | MONDO:0040678 | -| MONDO:0957675 | invasive urothelial carcinoma with squamous differentiation | NCIT:C191681 | MONDO:equivalentTo | Invasive Urothelial Carcinoma with Squamous Differentiation | | MONDO:0040678 | -| MONDO:0957676 | invasive urothelial carcinoma with trophoblastic differentiation | NCIT:C191682 | MONDO:equivalentTo | Invasive Urothelial Carcinoma with Trophoblastic Differentiation | | MONDO:0040678 | -| MONDO:0957677 | invasive clear cell (glycogen-rich) urothelial carcinoma | NCIT:C191683 | MONDO:equivalentTo | Invasive Clear Cell (Glycogen-Rich) Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957678 | invasive lipid-rich urothelial carcinoma | NCIT:C191684 | MONDO:equivalentTo | Invasive Lipid-Rich Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957679 | invasive microcystic urothelial carcinoma | NCIT:C191685 | MONDO:equivalentTo | Invasive Microcystic Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957680 | invasive nested urothelial carcinoma | NCIT:C191687 | MONDO:equivalentTo | Invasive Nested Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957681 | invasive plasmacytoid urothelial carcinoma | NCIT:C191688 | MONDO:equivalentTo | Invasive Plasmacytoid Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957682 | invasive large nested urothelial carcinoma | NCIT:C191725 | MONDO:equivalentTo | Invasive Large Nested Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957683 | invasive tubular urothelial carcinoma | NCIT:C191728 | MONDO:equivalentTo | Invasive Tubular Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957684 | invasive poorly differentiated urothelial carcinoma | NCIT:C191730 | MONDO:equivalentTo | Invasive Poorly Differentiated Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957685 | invasive conventional urothelial carcinoma | NCIT:C191734 | MONDO:equivalentTo | Invasive Conventional Urothelial Carcinoma | | MONDO:0040678 | -| MONDO:0957686 | prostatic intraepithelial neoplasia-like adenocarcinoma | NCIT:C191961 | MONDO:equivalentTo | Prostatic Intraepithelial Neoplasia-Like Adenocarcinoma | | MONDO:0002493 | -| MONDO:0957687 | extrapulmonary neuroendocrine carcinoma | NCIT:C191977 | MONDO:equivalentTo | Extrapulmonary Neuroendocrine Carcinoma | | MONDO:0002120 | -| MONDO:0957688 | intratubular embryonal carcinoma | NCIT:C192096 | MONDO:equivalentTo | Intratubular Embryonal Carcinoma | | MONDO:0004520|MONDO:0006446 | -| MONDO:0957689 | testicular yolk sac tumor, postpubertal-type | NCIT:C192099 | MONDO:equivalentTo | Testicular Yolk Sac Tumor, Postpubertal-Type | | MONDO:0003402 | -| MONDO:0957690 | cystic trophoblastic tumor | NCIT:C192105 | MONDO:equivalentTo | Cystic Trophoblastic Tumor | | MONDO:0021077|MONDO:0002872 | -| MONDO:0957691 | testicular teratoma, prepubertal-type | NCIT:C192107 | MONDO:equivalentTo | Testicular Teratoma, Prepubertal-Type | | MONDO:0018193 | -| MONDO:0957692 | gonadal myoid stromal tumor | NCIT:C192116 | MONDO:equivalentTo | Gonadal Myoid Stromal Tumor | | MONDO:0021447 | -| MONDO:0957693 | penile squamous cell carcinoma, not otherwise specified | NCIT:C192222 | MONDO:equivalentTo | Penile Squamous Cell Carcinoma, Not Otherwise Specified | | MONDO:0018352 | -| MONDO:0957694 | penile mucoepidermoid carcinoma | NCIT:C192223 | MONDO:equivalentTo | Penile Mucoepidermoid Carcinoma | | MONDO:0006360|MONDO:0003036 | -| MONDO:0957695 | urinary tract neoplasm | NCIT:C192666 | MONDO:equivalentTo | Urinary Tract Neoplasm | | MONDO:0021066 | -| MONDO:0957696 | benign cranial nerve neoplasm | NCIT:C193416 | MONDO:equivalentTo | Benign Cranial Nerve Neoplasm | | MONDO:0000648|MONDO:0002633 | -| MONDO:0957697 | benign spinal meningioma | NCIT:C193417 | MONDO:equivalentTo | Benign Spinal Meningioma | | MONDO:0001279|MONDO:0003054 | -| MONDO:0957698 | rectal gastrointestinal stromal tumor | NCIT:C193420 | MONDO:equivalentTo | Rectal Gastrointestinal Stromal Tumor | | MONDO:0002165|MONDO:0006159 | -| MONDO:0957699 | malignant ileal neoplasm | NCIT:C193425 | MONDO:equivalentTo | Malignant Ileal Neoplasm | | MONDO:0006801|MONDO:0000956 | -| MONDO:0957700 | refractory malignant phyllodes tumor | NCIT:C193453 | MONDO:equivalentTo | Refractory Malignant Phyllodes Tumor | | MONDO:0037003|MONDO:0036501 | -| MONDO:0957701 | childhood cancer stage by toronto guidelines v2 | NCIT:C198027 | MONDO:equivalentTo | Childhood Cancer Stage by Toronto Guidelines v2 | | MONDO:0006517 | -| MONDO:0957702 | myeloproliferative neoplasm, bcr-abl1 negative | NCIT:C198555 | MONDO:equivalentTo | Myeloproliferative Neoplasm, BCR-ABL1 Negative | | MONDO:0020076 | -| MONDO:0957703 | myeloid/lymphoid neoplasms with flt3 rearrangement | NCIT:C198559 | MONDO:equivalentTo | Myeloid/Lymphoid Neoplasms with FLT3 Rearrangement | | MONDO:0015688 | -| MONDO:0957704 | myeloid/lymphoid neoplasms with etv6-abl1 | NCIT:C198565 | MONDO:equivalentTo | Myeloid/Lymphoid Neoplasms with ETV6-ABL1 | | MONDO:0015688 | -| MONDO:0957705 | bone marrow mastocytosis | NCIT:C198573 | MONDO:equivalentTo | Bone Marrow Mastocytosis | | MONDO:0020331 | -| MONDO:0957706 | clonal monocytosis of undetermined significance | NCIT:C198580 | MONDO:equivalentTo | Clonal Monocytosis of Undetermined Significance | | MONDO:0006311 | -| MONDO:0957707 | myelodysplastic/myeloproliferative neoplasm with sf3b1 mutation and thrombocytosis | NCIT:C198581 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis | | MONDO:0006311 | -| MONDO:0957708 | clonal cytopenia with monocytosis of undetermined significance | NCIT:C198582 | MONDO:equivalentTo | Clonal Cytopenia with Monocytosis of Undetermined Significance | | MONDO:0006311 | -| MONDO:0957709 | myeloid neoplasm with mutated tp53 | NCIT:C198593 | MONDO:equivalentTo | Myeloid Neoplasm with Mutated TP53 | | MONDO:0005170 | -| MONDO:0957710 | myelodysplastic syndrome/acute myeloid leukemia, not otherwise specified | NCIT:C198597 | MONDO:equivalentTo | Myelodysplastic Syndrome/Acute Myeloid Leukemia, Not Otherwise Specified | | MONDO:0015041 | -| MONDO:0957711 | pediatric and/or germline mutation-associated myeloid disorders | NCIT:C198663 | MONDO:equivalentTo | Pediatric and/or Germline Mutation-Associated Myeloid Disorders | | MONDO:0005170 | -| MONDO:0957712 | b acute lymphoblastic leukemia with germline predisposition | NCIT:C198683 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia with Germline Predisposition | | MONDO:0020511 | -| MONDO:0957713 | acute myeloid leukemia with stat3-rara | NCIT:C198827 | MONDO:equivalentTo | Acute Myeloid Leukemia with STAT3-RARA | | MONDO:0100375 | -| MONDO:0957714 | acute myeloid leukemia with t(1;17)(q42.3;q21.2); irf2bp2-rara | NCIT:C198831 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(1;17)(q42.3;q21.2); IRF2BP2-RARA | | MONDO:0100375 | -| MONDO:0957715 | acute myeloid leukemia with tbl1xr1-rara | NCIT:C198834 | MONDO:equivalentTo | Acute Myeloid Leukemia with TBL1XR1-RARA | | MONDO:0100375 | -| MONDO:0957716 | acute myeloid leukemia with fip1l1-rara | NCIT:C198839 | MONDO:equivalentTo | Acute Myeloid Leukemia with FIP1L1-RARA | | MONDO:0100375 | -| MONDO:0957717 | acute myeloid leukemia with bcor-rara | NCIT:C198841 | MONDO:equivalentTo | Acute Myeloid Leukemia with BCOR-RARA | | MONDO:0100375 | -| MONDO:0957718 | acute myeloid leukemia with in-frame bzip cebpa mutation | NCIT:C198891 | MONDO:equivalentTo | Acute Myeloid Leukemia with In-Frame bZIP CEBPA Mutation | | MONDO:0017894 | -| MONDO:0957719 | acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities | NCIT:C198957 | MONDO:equivalentTo | Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities | | MONDO:0100409 | -| MONDO:0957720 | low grade endometrioid adenocarcinoma | NCIT:C199146 | MONDO:equivalentTo | Low Grade Endometrioid Adenocarcinoma | | MONDO:0005026 | -| MONDO:0957721 | high grade endometrioid adenocarcinoma | NCIT:C199149 | MONDO:equivalentTo | High Grade Endometrioid Adenocarcinoma | | MONDO:0005026 | -| MONDO:0957722 | early t precursor lymphoblastic leukemia/lymphoma | NCIT:C199170 | MONDO:equivalentTo | Early T Precursor Lymphoblastic Leukemia/Lymphoma | | MONDO:0003537 | -| MONDO:0957724 | early t precursor acute lymphoblastic leukemia, not otherwise specified | NCIT:C199172 | MONDO:equivalentTo | Early T Precursor Acute Lymphoblastic Leukemia, Not Otherwise Specified | | MONDO:0100291 | -| MONDO:0957725 | t lymphoblastic leukemia/lymphoma, not otherwise specified | NCIT:C199173 | MONDO:equivalentTo | T Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified | | MONDO:0003537 | -| MONDO:0957726 | b acute lymphoblastic leukemia with recurrent genetic abnormalities | NCIT:C199202 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities | | MONDO:0020511|MONDO:0035605 | -| MONDO:0957727 | b lymphoblastic leukemia/lymphoma with myc rearrangement | NCIT:C199231 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with MYC Rearrangement | | MONDO:0035605 | -| MONDO:0957728 | primary cold agglutinin disease | NCIT:C199387 | MONDO:equivalentTo | Primary Cold Agglutinin Disease | | MONDO:0004949 | -| MONDO:0957729 | multiple myeloma with recurrent genetic abnormalities | NCIT:C199392 | MONDO:equivalentTo | Multiple Myeloma with Recurrent Genetic Abnormalities | | MONDO:0009693 | -| MONDO:0957730 | multiple myeloma, not otherwise specified | NCIT:C199418 | MONDO:equivalentTo | Multiple Myeloma, Not Otherwise Specified | | MONDO:0009693 | -| MONDO:0957731 | heavy chain class-switched primary cutaneous marginal zone lymphoproliferative disorder | NCIT:C199457 | MONDO:equivalentTo | Heavy Chain Class-Switched Primary Cutaneous Marginal Zone Lymphoproliferative Disorder | | MONDO:0015813 | -| MONDO:0957732 | igm-positive primary cutaneous marginal zone lymphoproliferative disorder | NCIT:C199460 | MONDO:equivalentTo | IgM-Positive Primary Cutaneous Marginal Zone Lymphoproliferative Disorder | | MONDO:0015813 | -| MONDO:0957733 | bcl2-r-negative, cd23-positive follicle center lymphoma | NCIT:C199467 | MONDO:equivalentTo | BCL2-R-Negative, CD23-Positive Follicle Center Lymphoma | | MONDO:0018906 | -| MONDO:0957734 | cyclin d1-positive mantle cell lymphoma | NCIT:C199481 | MONDO:equivalentTo | Cyclin D1-Positive Mantle Cell Lymphoma | | MONDO:0018876 | -| MONDO:0957735 | hhv-8 and ebv-negative primary effusion-based lymphoma | NCIT:C199576 | MONDO:equivalentTo | HHV-8 and EBV-Negative Primary Effusion-Based Lymphoma | | MONDO:0018905 | -| MONDO:0957736 | classic hydroa vacciniforme lymphoproliferative disorder | NCIT:C199676 | MONDO:equivalentTo | Classic Hydroa Vacciniforme Lymphoproliferative Disorder | | MONDO:0018224 | -| MONDO:0957737 | systemic hydroa vacciniforme lymphoproliferative disorder | NCIT:C199677 | MONDO:equivalentTo | Systemic Hydroa Vacciniforme Lymphoproliferative Disorder | | MONDO:0018224 | -| MONDO:0957738 | indolent nk-cell lymphoproliferative disorder of the gastrointestinal tract | NCIT:C200037 | MONDO:equivalentTo | Indolent NK-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract | | MONDO:0005169 | -| MONDO:0957739 | peripheral t-cell lymphoma-gata3 | NCIT:C200073 | MONDO:equivalentTo | Peripheral T-Cell Lymphoma-GATA3 | | MONDO:0004964 | -| MONDO:0957740 | peripheral t-cell lymphoma-tbx21 | NCIT:C200074 | MONDO:equivalentTo | Peripheral T-Cell Lymphoma-TBX21 | | MONDO:0004964 | -| MONDO:0957741 | alk-positive histiocytosis | NCIT:C200105 | MONDO:equivalentTo | ALK-Positive Histiocytosis | | MONDO:0006247 | -| MONDO:0957742 | vulvar tubulovillous adenoma | NCIT:C200207 | MONDO:equivalentTo | Vulvar Tubulovillous Adenoma | | MONDO:0002198|MONDO:0000643 | -| MONDO:0957743 | pancreatic cystic neoplasm | NCIT:C200227 | MONDO:equivalentTo | Pancreatic Cystic Neoplasm | | MONDO:0021077|MONDO:0021076 | -| MONDO:0957744 | myelodysplastic syndrome with low blasts | NCIT:C200389 | MONDO:equivalentTo | Myelodysplastic Syndrome with Low Blasts | | MONDO:0018881 | -| MONDO:0957745 | myelodysplastic syndrome with genetic abnormalities | NCIT:C200390 | MONDO:equivalentTo | Myelodysplastic Syndrome with Genetic Abnormalities | | MONDO:0018881 | -| MONDO:0957746 | myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related gene mutations | NCIT:C200400 | MONDO:equivalentTo | Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations | | MONDO:0015041 | -| MONDO:0957747 | myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities | NCIT:C200402 | MONDO:equivalentTo | Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities | | MONDO:0015041 | -| MONDO:0957748 | acute myeloid leukemia with mecom rearrangement | NCIT:C200407 | MONDO:equivalentTo | Acute Myeloid Leukemia with MECOM Rearrangement | | MONDO:0020078 | -| MONDO:0957749 | acute myeloid leukemia with nup98 rearrangement | NCIT:C200411 | MONDO:equivalentTo | Acute Myeloid Leukemia with NUP98 Rearrangement | | MONDO:0020078 | -| MONDO:0957750 | acute myeloid leukemia with fus-erg | NCIT:C200419 | MONDO:equivalentTo | Acute Myeloid Leukemia with FUS-ERG | | MONDO:0020078 | -| MONDO:0957751 | acute myeloid leukemia with npm1-mlf1 | NCIT:C200420 | MONDO:equivalentTo | Acute Myeloid Leukemia with NPM1-MLF1 | | MONDO:0020078 | -| MONDO:0957752 | acute myeloid leukemia with kat6a-crebbp | NCIT:C200421 | MONDO:equivalentTo | Acute Myeloid Leukemia with KAT6A-CREBBP | | MONDO:0020078 | -| MONDO:0957753 | acute leukemia of ambiguous lineage with defining genetic abnormalities | NCIT:C200494 | MONDO:equivalentTo | Acute Leukemia of Ambiguous Lineage with Defining Genetic Abnormalities | | MONDO:0019460 | -| MONDO:0957754 | mature plasmacytoid dendritic cell proliferation associated with myeloid neoplasm | NCIT:C200513 | MONDO:equivalentTo | Mature Plasmacytoid Dendritic Cell Proliferation Associated with Myeloid Neoplasm | | MONDO:0006247 | -| MONDO:0957755 | b lymphoblastic leukemia/lymphoma with tcf3-hlf rearrangement | NCIT:C200587 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement | | MONDO:0035605 | -| MONDO:0957756 | atypical teratoid/rhabdoid tumor molecular subtypes | NCIT:C200597 | MONDO:equivalentTo | Atypical Teratoid/Rhabdoid Tumor Molecular Subtypes | | MONDO:0020560 | -| MONDO:0957757 | classic follicular lymphoma | NCIT:C200669 | MONDO:equivalentTo | Classic Follicular Lymphoma | | MONDO:0018906 | -| MONDO:0957758 | follicular lymphoma with unusual cytological features | NCIT:C200684 | MONDO:equivalentTo | Follicular Lymphoma with Unusual Cytological Features | | MONDO:0018906 | -| MONDO:0957759 | cyclin d1-negative mantle cell lymphoma | NCIT:C200685 | MONDO:equivalentTo | Cyclin D1-Negative Mantle Cell Lymphoma | | MONDO:0018876 | -| MONDO:0957760 | primary large b-cell lymphoma of immune-privileged site | NCIT:C200687 | MONDO:equivalentTo | Primary Large B-Cell Lymphoma of Immune-Privileged Site | | MONDO:0018905 | -| MONDO:0957761 | ebv-negative burkitt lymphoma | NCIT:C200688 | MONDO:equivalentTo | EBV-Negative Burkitt Lymphoma | | MONDO:0007243 | -| MONDO:0957762 | plasma cell neoplasm with associated paraneoplastic syndrome | NCIT:C200738 | MONDO:equivalentTo | Plasma Cell Neoplasm with Associated Paraneoplastic Syndrome | | MONDO:0004959 | -| MONDO:0957763 | who grade 4 glioma | NCIT:C200758 | MONDO:equivalentTo | WHO Grade 4 Glioma | | MONDO:0100342 | -| MONDO:0957764 | primary cutaneous peripheral t-cell lymphoma, not otherwise specified | NCIT:C201080 | MONDO:equivalentTo | Primary Cutaneous Peripheral T-Cell Lymphoma, Not Otherwise Specified | | MONDO:0000607 | -| MONDO:0957765 | cribriform comedo-type adenocarcinoma | NCIT:C201124 | MONDO:equivalentTo | Cribriform Comedo-Type Adenocarcinoma | | MONDO:0003575|MONDO:0006176 | -| MONDO:0957766 | aleukemic myeloid leukemia | NCIT:C201127 | MONDO:equivalentTo | Aleukemic Myeloid leukemia | | MONDO:0003730|MONDO:0004643 | -| MONDO:0957767 | solid pseudopapillary neoplasm | NCIT:C201136 | MONDO:equivalentTo | Solid Pseudopapillary Neoplasm | | MONDO:0004992 | -| MONDO:0957768 | endemic burkitt lymphoma | NCIT:C27122 | MONDO:equivalentTo | Endemic Burkitt Lymphoma | | MONDO:0007243 | -| MONDO:0957769 | multicystic mesothelioma | NCIT:C3765 | MONDO:equivalentTo | Multicystic Mesothelioma | | MONDO:0006856|MONDO:0021077 | -| MONDO:0957770 | low grade myofibroblastic sarcoma | NCIT:C49024 | MONDO:equivalentTo | Low Grade Myofibroblastic Sarcoma | | MONDO:0005164 | -| MONDO:0957771 | sclerosing epithelioid fibrosarcoma | NCIT:C49027 | MONDO:equivalentTo | Sclerosing Epithelioid Fibrosarcoma | | MONDO:0005164 | -| MONDO:0957772 | meningothelial cell neoplasm | NCIT:C6971 | MONDO:equivalentTo | Meningothelial Cell Neoplasm | | MONDO:0002616 | -| MONDO:0957773 | type a lymphomatoid papulosis | NCIT:C7197 | MONDO:equivalentTo | Type A Lymphomatoid Papulosis | | MONDO:0020326 | -| MONDO:0957774 | type c lymphomatoid papulosis | NCIT:C7199 | MONDO:equivalentTo | Type C Lymphomatoid Papulosis | | MONDO:0020326 | -| MONDO:0957775 | pancreatic intraductal papillary mucinous neoplasm, oncocytic-type | NCIT:C95514 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type | | MONDO:0004286|MONDO:0010795 | -| MONDO:0957850 | post-essential thrombocythemia myelofibrosis | NCIT:C126806 | MONDO:equivalentTo | Post-Essential Thrombocythemia Myelofibrosis | | MONDO:0005029 | -| MONDO:0957851 | recurrent myelofibrosis | NCIT:C162424 | MONDO:equivalentTo | Recurrent Myelofibrosis | | | -| MONDO:0957852 | refractory myelofibrosis | NCIT:C162425 | MONDO:equivalentTo | Refractory Myelofibrosis | | | -| MONDO:0957853 | bone rosai-dorfman-destombes disease | NCIT:C178613 | MONDO:equivalentTo | Bone Rosai-Dorfman-Destombes Disease | | MONDO:0019060|MONDO:0006412 | -| MONDO:0957854 | stage m0 medulloblastoma | NCIT:C186521 | MONDO:equivalentTo | Stage M0 Medulloblastoma | | MONDO:0007959 | -| MONDO:0957855 | stage m1 medulloblastoma | NCIT:C186522 | MONDO:equivalentTo | Stage M1 Medulloblastoma | | MONDO:0007959 | -| MONDO:0957856 | stage m2 medulloblastoma | NCIT:C186523 | MONDO:equivalentTo | Stage M2 Medulloblastoma | | MONDO:0007959 | -| MONDO:0957857 | stage m3 medulloblastoma | NCIT:C186524 | MONDO:equivalentTo | Stage M3 Medulloblastoma | | MONDO:0007959 | -| MONDO:0957858 | stage m4 medulloblastoma | NCIT:C186525 | MONDO:equivalentTo | Stage M4 Medulloblastoma | | MONDO:0007959 | -| MONDO:0957859 | stage m0 atypical teratoid/rhabdoid tumor | NCIT:C186528 | MONDO:equivalentTo | Stage M0 Atypical Teratoid/Rhabdoid Tumor | | MONDO:0020560 | -| MONDO:0957860 | stage m1 atypical teratoid/rhabdoid tumor | NCIT:C186529 | MONDO:equivalentTo | Stage M1 Atypical Teratoid/Rhabdoid Tumor | | MONDO:0020560 | -| MONDO:0957861 | stage m2 atypical teratoid/rhabdoid tumor | NCIT:C186530 | MONDO:equivalentTo | Stage M2 Atypical Teratoid/Rhabdoid Tumor | | MONDO:0020560 | -| MONDO:0957862 | stage m3 atypical teratoid/rhabdoid tumor | NCIT:C186531 | MONDO:equivalentTo | Stage M3 Atypical Teratoid/Rhabdoid Tumor | | MONDO:0020560 | -| MONDO:0957863 | stage m4 atypical teratoid/rhabdoid tumor | NCIT:C186532 | MONDO:equivalentTo | Stage M4 Atypical Teratoid/Rhabdoid Tumor | | MONDO:0020560 | -| MONDO:0957864 | stage m0 pineoblastoma | NCIT:C186568 | MONDO:equivalentTo | Stage M0 Pineoblastoma | | MONDO:0016722 | -| MONDO:0957865 | stage m1 pineoblastoma | NCIT:C186569 | MONDO:equivalentTo | Stage M1 Pineoblastoma | | MONDO:0016722 | -| MONDO:0957866 | stage m2 pineoblastoma | NCIT:C186570 | MONDO:equivalentTo | Stage M2 Pineoblastoma | | MONDO:0016722 | -| MONDO:0957867 | stage m3 pineoblastoma | NCIT:C186571 | MONDO:equivalentTo | Stage M3 Pineoblastoma | | MONDO:0016722 | -| MONDO:0957868 | stage m4 pineoblastoma | NCIT:C186572 | MONDO:equivalentTo | Stage M4 Pineoblastoma | | MONDO:0016722 | -| MONDO:0958220 | colorectal perineurioma | NCIT:C96513 | MONDO:equivalentTo | Colorectal Perineurioma | | MONDO:0015031|MONDO:0021444 | -| MONDO:0970840 | platinum-resistant primary peritoneal carcinoma | NCIT:C157622 | MONDO:equivalentTo | Platinum-Resistant Primary Peritoneal Carcinoma | | MONDO:0015686 | -| MONDO:0970841 | platinum-resistant malignant female reproductive system neoplasm | NCIT:C169021 | MONDO:equivalentTo | Platinum-Resistant Malignant Female Reproductive System Neoplasm | | MONDO:0001416 | -| MONDO:0970842 | extracutaneous merkel cell carcinoma | NCIT:C173586 | MONDO:equivalentTo | Extracutaneous Merkel Cell Carcinoma | | MONDO:0019210 | -| MONDO:0970843 | non-neoplastic tonsillar disorder | NCIT:C173798 | MONDO:equivalentTo | Non-Neoplastic Tonsillar Disorder | | | -| MONDO:0970844 | swi/snf complex-deficient sinonasal carcinoma | NCIT:C201634 | MONDO:equivalentTo | SWI/SNF Complex-Deficient Sinonasal Carcinoma | | MONDO:0056819 | -| MONDO:0970845 | tracheal verrucous carcinoma | NCIT:C201742 | MONDO:equivalentTo | Tracheal Verrucous Carcinoma | | MONDO:0001419|MONDO:0006006 | -| MONDO:0970846 | hypopharyngeal verrucous carcinoma | NCIT:C201743 | MONDO:equivalentTo | Hypopharyngeal Verrucous Carcinoma | | MONDO:0044638|MONDO:0006006 | -| MONDO:0970847 | hypopharyngeal papillary squamous cell carcinoma | NCIT:C201748 | MONDO:equivalentTo | Hypopharyngeal Papillary Squamous Cell Carcinoma | | MONDO:0002979|MONDO:0044638 | -| MONDO:0970848 | hypopharyngeal spindle cell squamous carcinoma | NCIT:C201749 | MONDO:equivalentTo | Hypopharyngeal Spindle Cell Squamous Carcinoma | | MONDO:0044638|MONDO:0021663 | -| MONDO:0970849 | parotid gland keratocystoma | NCIT:C201770 | MONDO:equivalentTo | Parotid Gland Keratocystoma | | MONDO:0021460 | -| MONDO:0970850 | hyalinizing clear cell carcinoma | NCIT:C201821 | MONDO:equivalentTo | Hyalinizing Clear Cell Carcinoma | | MONDO:0004993 | -| MONDO:0970851 | tongue verrucous carcinoma | NCIT:C201878 | MONDO:equivalentTo | Tongue Verrucous Carcinoma | | MONDO:0021538|MONDO:0000500 | -| MONDO:0970852 | palatine tonsil hamartomatous polyp | NCIT:C201900 | MONDO:equivalentTo | Palatine Tonsil Hamartomatous Polyp | | | -| MONDO:0970853 | transformed chronic lymphocytic leukemia to hodgkin lymphoma | NCIT:C201960 | MONDO:equivalentTo | Transformed Chronic Lymphocytic Leukemia to Hodgkin Lymphoma | | MONDO:0004948 | -| MONDO:0970854 | pineoblastoma molecular subtypes | NCIT:C201966 | MONDO:equivalentTo | Pineoblastoma Molecular Subtypes | | MONDO:0016722 | -| MONDO:0970855 | spinal cord pilocytic astrocytoma | NCIT:C201976 | MONDO:equivalentTo | Spinal Cord Pilocytic Astrocytoma | | MONDO:0003174|MONDO:0016691 | -| MONDO:0970856 | brain low grade glioma | NCIT:C201977 | MONDO:equivalentTo | Brain Low Grade Glioma | | MONDO:0021632|MONDO:0021637 | -| MONDO:0970857 | clear cell calcifying epithelial odontogenic tumor | NCIT:C202057 | MONDO:equivalentTo | Clear Cell Calcifying Epithelial Odontogenic Tumor | | MONDO:0022057 | -| MONDO:0970858 | cystic/microcystic calcifying epithelial odontogenic tumor | NCIT:C202058 | MONDO:equivalentTo | Cystic/Microcystic Calcifying Epithelial Odontogenic Tumor | | MONDO:0022057 | -| MONDO:0970859 | non-calcifying/langerhans cell-rich calcifying epithelial odontogenic tumor | NCIT:C202059 | MONDO:equivalentTo | Non-Calcifying/Langerhans Cell-Rich Calcifying Epithelial Odontogenic Tumor | | MONDO:0022057 | -| MONDO:0970860 | adenoid ameloblastoma | NCIT:C202061 | MONDO:equivalentTo | Adenoid Ameloblastoma | | MONDO:0017795 | -| MONDO:0970861 | egfr-positive lung non-small cell carcinoma | NCIT:C202131 | MONDO:equivalentTo | EGFR-Positive Lung Non-Small Cell Carcinoma | | MONDO:0005233 | -| MONDO:0970862 | juvenile trabecular ossifying fibroma | NCIT:C202205 | MONDO:equivalentTo | Juvenile Trabecular Ossifying Fibroma | | MONDO:0002119 | -| MONDO:0970863 | psammomatoid ossifying fibroma | NCIT:C202209 | MONDO:equivalentTo | Psammomatoid Ossifying Fibroma | | MONDO:0002119 | -| MONDO:0970864 | surface osteoma | NCIT:C202252 | MONDO:equivalentTo | Surface Osteoma | | MONDO:0005166 | -| MONDO:0970865 | central osteoma | NCIT:C202253 | MONDO:equivalentTo | Central Osteoma | | MONDO:0005166 | -| MONDO:0970866 | rhabdomyosarcoma with tfcp2 rearrangement | NCIT:C202263 | MONDO:equivalentTo | Rhabdomyosarcoma with TFCP2 Rearrangement | | MONDO:0005212 | -| MONDO:0970867 | non-clear cell renal cell carcinoma | NCIT:C202497 | MONDO:equivalentTo | Non-Clear Cell Renal Cell Carcinoma | | MONDO:0005549 | -| MONDO:0970868 | middle ear papilloma | NCIT:C202582 | MONDO:equivalentTo | Middle Ear Papilloma | | MONDO:0021078|MONDO:0021482 | -| MONDO:0970869 | external auditory canal squamous cell carcinoma | NCIT:C202594 | MONDO:equivalentTo | External Auditory Canal Squamous Cell Carcinoma | | MONDO:0003501 | -| MONDO:0970870 | orbit solitary fibrous tumor | NCIT:C202620 | MONDO:equivalentTo | Orbit Solitary Fibrous Tumor | | MONDO:0016238|MONDO:0024611 | -| MONDO:0970871 | head and neck soft tissue neoplasm | NCIT:C202623 | MONDO:equivalentTo | Head and Neck Soft Tissue Neoplasm | | MONDO:0006424|MONDO:0005586 | -| MONDO:0970872 | proximal colon carcinoma | NCIT:C202633 | MONDO:equivalentTo | Proximal Colon Carcinoma | | MONDO:0002032 | -| MONDO:0970873 | distal colon carcinoma | NCIT:C202634 | MONDO:equivalentTo | Distal Colon Carcinoma | | MONDO:0002032 | -| MONDO:0970874 | oral cavity neurofibroma | NCIT:C202860 | MONDO:equivalentTo | Oral Cavity Neurofibroma | | MONDO:0021445|MONDO:0016755 | -| MONDO:0970875 | oral cavity schwannoma | NCIT:C202876 | MONDO:equivalentTo | Oral Cavity Schwannoma | | MONDO:0021445|MONDO:0004820 | -| MONDO:0970876 | head and neck phosphaturic mesenchymal tumor | NCIT:C202879 | MONDO:equivalentTo | Head and Neck Phosphaturic Mesenchymal Tumor | | MONDO:0006368|MONDO:0005586 | -| MONDO:0970877 | appendicular skeleton phosphaturic mesenchymal tumor | NCIT:C202880 | MONDO:equivalentTo | Appendicular Skeleton Phosphaturic Mesenchymal Tumor | | MONDO:0019060|MONDO:0006368 | -| MONDO:0970878 | poorly differentiated synovial sarcoma | NCIT:C202883 | MONDO:equivalentTo | Poorly Differentiated Synovial Sarcoma | | MONDO:0010434 | -| MONDO:0970879 | primary cd30-positive t-cell lymphoproliferative disorder | NCIT:C202952 | MONDO:equivalentTo | Primary CD30-Positive T-Cell Lymphoproliferative Disorder | | MONDO:0005169 | -| MONDO:0970880 | head and neck hematopoietic and lymphoid cell neoplasm | NCIT:C202954 | MONDO:equivalentTo | Head and Neck Hematopoietic and Lymphoid Cell Neoplasm | | MONDO:0005586|MONDO:0044881 | -| MONDO:0970881 | head and neck germ cell tumor | NCIT:C202977 | MONDO:equivalentTo | Head and Neck Germ Cell Tumor | | MONDO:0018201|MONDO:0005586 | -| MONDO:0970882 | cecum neuroendocrine tumor | NCIT:C203386 | MONDO:equivalentTo | Cecum Neuroendocrine Tumor | | MONDO:0005694|MONDO:0015067 | -| MONDO:0970883 | ascending colon neuroendocrine tumor | NCIT:C203387 | MONDO:equivalentTo | Ascending Colon Neuroendocrine Tumor | | MONDO:0015067 | -| MONDO:0970884 | descending colon neuroendocrine tumor | NCIT:C203388 | MONDO:equivalentTo | Descending Colon Neuroendocrine Tumor | | MONDO:0015067 | -| MONDO:0970885 | sigmoid colon neuroendocrine tumor | NCIT:C203389 | MONDO:equivalentTo | Sigmoid Colon Neuroendocrine Tumor | | MONDO:0015067 | -| MONDO:0970886 | transverse colon neuroendocrine tumor | NCIT:C203390 | MONDO:equivalentTo | Transverse Colon Neuroendocrine Tumor | | MONDO:0015067 | -| MONDO:0970887 | histiocytic disorder | NCIT:C203422 | MONDO:equivalentTo | Histiocytic Disorder | | | -| MONDO:0970888 | myelodysplastic chronic myelomonocytic leukemia | NCIT:C203443 | MONDO:equivalentTo | Myelodysplastic Chronic Myelomonocytic Leukemia | | MONDO:0020311 | -| MONDO:0970889 | myeloproliferative chronic myelomonocytic leukemia | NCIT:C203444 | MONDO:equivalentTo | Myeloproliferative Chronic Myelomonocytic Leukemia | | MONDO:0020311 | -| MONDO:0970890 | t acute lymphoblastic leukemia with recurrent genetic abnormalities | NCIT:C203469 | MONDO:equivalentTo | T Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities | | MONDO:0004963 | -| MONDO:0970891 | esophageal and gastroesophageal junction carcinoma | NCIT:C203673 | MONDO:equivalentTo | Esophageal and Gastroesophageal Junction Carcinoma | | MONDO:0006181 | -| MONDO:0970892 | low grade mucinous carcinoma peritonei | NCIT:C203946 | MONDO:equivalentTo | Low Grade Mucinous Carcinoma Peritonei | | MONDO:0017048 | -| MONDO:0970893 | high grade mucinous carcinoma peritonei | NCIT:C203948 | MONDO:equivalentTo | High Grade Mucinous Carcinoma Peritonei | | MONDO:0017048 | -| MONDO:0970894 | merkel cell polyoma virus-positive merkel cell carcinoma | NCIT:C204383 | MONDO:equivalentTo | Merkel Cell Polyoma Virus-Positive Merkel Cell Carcinoma | | MONDO:0019210 | -| MONDO:0970895 | merkel cell polyoma virus-negative merkel cell carcinoma | NCIT:C204385 | MONDO:equivalentTo | Merkel Cell Polyoma Virus-Negative Merkel Cell Carcinoma | | MONDO:0019210 | -| MONDO:0970896 | lentiginous melanocytic nevus | NCIT:C204482 | MONDO:equivalentTo | Lentiginous Melanocytic Nevus | | MONDO:0044794 | -| MONDO:0970897 | mitf pathway-activated melanocytic tumor | NCIT:C204739 | MONDO:equivalentTo | MITF Pathway-Activated Melanocytic Tumor | | MONDO:0021583 | -| MONDO:0970898 | dermal spitz nevus | NCIT:C204789 | MONDO:equivalentTo | Dermal Spitz Nevus | | MONDO:0006813|MONDO:0044793 | -| MONDO:0970899 | spitz tumor | NCIT:C204790 | MONDO:equivalentTo | Spitz Tumor | | MONDO:0021583 | -| MONDO:0970900 | melanoma in intermittently sun-exposed skin | NCIT:C204840 | MONDO:equivalentTo | Melanoma in Intermittently Sun-Exposed Skin | | MONDO:0005012 | -| MONDO:0970901 | low-csd melanoma, superficial spreading melanoma subtype | NCIT:C204843 | MONDO:equivalentTo | Low-CSD Melanoma, Superficial Spreading Melanoma Subtype | | MONDO:0020638 | -| MONDO:0970902 | melanoma in chronically sun-exposed skin | NCIT:C204864 | MONDO:equivalentTo | Melanoma in Chronically Sun-Exposed Skin | | MONDO:0005012 | -| MONDO:0970903 | mucosal nevus | NCIT:C204907 | MONDO:equivalentTo | Mucosal Nevus | | MONDO:0005073 | -| MONDO:0970904 | dendritic blue nevus | NCIT:C204910 | MONDO:equivalentTo | Dendritic Blue Nevus | | MONDO:0006680 | -| MONDO:0970905 | intermediate congenital melanocytic nevus | NCIT:C204976 | MONDO:equivalentTo | Intermediate Congenital Melanocytic Nevus | | MONDO:0044792 | -| MONDO:0970906 | conjunctival melanocytic neoplasm | NCIT:C204977 | MONDO:equivalentTo | Conjunctival Melanocytic Neoplasm | | MONDO:0021143|MONDO:0020204 | -| MONDO:0970907 | uveal melanocytic neoplasm | NCIT:C205057 | MONDO:equivalentTo | Uveal Melanocytic Neoplasm | | MONDO:0021143|MONDO:0021225 | -| MONDO:0970908 | nodular melanoma | NCIT:C205125 | MONDO:equivalentTo | Nodular Melanoma | | MONDO:0005105 | -| MONDO:0970909 | dermal melanoma | NCIT:C205129 | MONDO:equivalentTo | Dermal Melanoma | | MONDO:0005012 | -| MONDO:0970910 | metastatic melanoma in the lymph nodes | NCIT:C205131 | MONDO:equivalentTo | Metastatic Melanoma in the Lymph Nodes | | MONDO:0005191|MONDO:0005438 | -| MONDO:0970911 | platinum-sensitive endometrial carcinoma | NCIT:C205187 | MONDO:equivalentTo | Platinum-Sensitive Endometrial Carcinoma | | MONDO:0002447 | -| MONDO:0970912 | early stage cervical carcinoma | NCIT:C205287 | MONDO:equivalentTo | Early Stage Cervical Carcinoma | | MONDO:0005131 | -| MONDO:0970913 | early stage clear cell renal cell carcinoma | NCIT:C205289 | MONDO:equivalentTo | Early Stage Clear Cell Renal Cell Carcinoma | | MONDO:0005005 | -| MONDO:0970914 | early stage colorectal carcinoma | NCIT:C205290 | MONDO:equivalentTo | Early Stage Colorectal Carcinoma | | MONDO:0024331 | -| MONDO:0970915 | early stage endometrial carcinoma | NCIT:C205295 | MONDO:equivalentTo | Early Stage Endometrial Carcinoma | | MONDO:0002447 | -| MONDO:0970916 | early stage esophageal carcinoma | NCIT:C205298 | MONDO:equivalentTo | Early Stage Esophageal Carcinoma | | MONDO:0019086 | -| MONDO:0970917 | early stage hepatocellular carcinoma | NCIT:C205301 | MONDO:equivalentTo | Early Stage Hepatocellular Carcinoma | | MONDO:0007256 | -| MONDO:0970918 | early stage lung non-small cell carcinoma | NCIT:C205303 | MONDO:equivalentTo | Early Stage Lung Non-Small Cell Carcinoma | | MONDO:0005233 | -| MONDO:0970919 | early stage malignant skin neoplasm | NCIT:C205307 | MONDO:equivalentTo | Early Stage Malignant Skin Neoplasm | | MONDO:0002898 | -| MONDO:0970920 | primary cutaneous nut adnexal carcinoma | NCIT:C205357 | MONDO:equivalentTo | Primary Cutaneous NUT Adnexal Carcinoma | | MONDO:0005563|MONDO:0006973 | -| MONDO:0970921 | trichogerminoma | NCIT:C205371 | MONDO:equivalentTo | Trichogerminoma | | MONDO:0020593 | -| MONDO:0970922 | apocrine cystadenoma | NCIT:C205459 | MONDO:equivalentTo | Apocrine Cystadenoma | | MONDO:0002804|MONDO:0002369 | -| MONDO:0970923 | eccrine poroma | NCIT:C205462 | MONDO:equivalentTo | Eccrine Poroma | | MONDO:0006738|MONDO:0024247 | -| MONDO:0970924 | hidroacanthoma simplex | NCIT:C205475 | MONDO:equivalentTo | Hidroacanthoma Simplex | | MONDO:0006738 | -| MONDO:0970925 | solid cystic hidradenoma | NCIT:C205539 | MONDO:equivalentTo | Solid Cystic Hidradenoma | | MONDO:0002805 | -| MONDO:0970926 | sialoblastoma | NCIT:C35837 | MONDO:equivalentTo | Sialoblastoma | | MONDO:0004669 | -| MONDO:0970927 | cribriform trichoblastoma | NCIT:C43322 | MONDO:equivalentTo | Cribriform Trichoblastoma | | MONDO:0020593 | -| MONDO:0970928 | lung neuroendocrine carcinoma | NCIT:C45569 | MONDO:equivalentTo | Lung Neuroendocrine Carcinoma | | MONDO:0005454|MONDO:0005138|MONDO:0002120 | -| MONDO:0970929 | branchioma | NCIT:C53595 | MONDO:equivalentTo | Branchioma | | MONDO:0021455 | -| MONDO:0970930 | ear carcinoma | NCIT:C54262 | MONDO:equivalentTo | Ear Carcinoma | | MONDO:0003277|MONDO:0002038 | -| MONDO:0970931 | intracranial melanoma | NCIT:C5442 | MONDO:equivalentTo | Intracranial Melanoma | | MONDO:0003761|MONDO:0001657|MONDO:0021632 | -| MONDO:0970932 | meckel diverticulum neuroendocrine tumor g1 | NCIT:C6424 | MONDO:equivalentTo | Meckel Diverticulum Neuroendocrine Tumor G1 | | MONDO:0021533 | -| MONDO:0970933 | duodenal neuroendocrine tumor g1 | NCIT:C6425 | MONDO:equivalentTo | Duodenal Neuroendocrine Tumor G1 | | MONDO:0000540|MONDO:0015063 | -| MONDO:0970934 | intracranial myeloid sarcoma | NCIT:C7008 | MONDO:equivalentTo | Intracranial Myeloid Sarcoma | | MONDO:0003641|MONDO:0001657|MONDO:0006861|MONDO:0021632 | -| MONDO:0970935 | hamartomatous polyp | NCIT:C8372 | MONDO:equivalentTo | Hamartomatous Polyp | | | -| MONDO:0970936 | well differentiated fibrosarcoma | NCIT:C9025 | MONDO:equivalentTo | Well Differentiated Fibrosarcoma | | MONDO:0005164 | -| MONDO:0970937 | poorly differentiated angiosarcoma | NCIT:C9031 | MONDO:equivalentTo | Poorly Differentiated Angiosarcoma | | MONDO:0016982 | -| MONDO:0970938 | well differentiated leiomyosarcoma | NCIT:C9389 | MONDO:equivalentTo | Well Differentiated Leiomyosarcoma | | MONDO:0005058 | -| MONDO:0970939 | poorly differentiated fibrosarcoma | NCIT:C9404 | MONDO:equivalentTo | Poorly Differentiated Fibrosarcoma | | MONDO:0005164 | -| MONDO:0970940 | low grade sarcoma | NCIT:C9417 | MONDO:equivalentTo | Low Grade Sarcoma | | MONDO:0005089 | -| MONDO:0970941 | high grade sarcoma | NCIT:C9418 | MONDO:equivalentTo | High Grade Sarcoma | | MONDO:0005089 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:---------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:---------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0853241 | primary central nervous system neoplasm | NCIT:C102871 | MONDO:equivalentTo | Primary Central Nervous System Neoplasm | A benign or malignant neoplasm that arises from the brain or the spinal cord. | MONDO:0006130 | +| MONDO:0853254 | adrenal cortical carcinoma by ensat stage | NCIT:C104030 | MONDO:equivalentTo | Adrenal Cortical Carcinoma by ENSAT Stage | A term that refers to the staging of adrenal cortical carcinoma according to the European Network for the Study of Adrenal Tumors (ENSAT). | MONDO:0006639 | +| MONDO:0853255 | ovarian high grade serous adenocarcinoma | NCIT:C105555 | MONDO:equivalentTo | Ovarian High Grade Serous Adenocarcinoma | A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures. | MONDO:0005211 | +| MONDO:0853256 | ovarian low grade serous adenocarcinoma | NCIT:C105556 | MONDO:equivalentTo | Ovarian Low Grade Serous Adenocarcinoma | A slow-growing serous adenocarcinoma that arises from the ovary. It usually originates from borderline neoplastic processes or adenofibromas. It is characterized by the presence of low grade cytologic features and infrequent mitotic figures. | MONDO:0005211 | +| MONDO:0853260 | uveal melanoma by gene expression profile | NCIT:C111030 | MONDO:equivalentTo | Uveal Melanoma by Gene Expression Profile | | MONDO:0006486 | +| MONDO:0853262 | glioblastoma by gene expression profile | NCIT:C111691 | MONDO:equivalentTo | Glioblastoma by Gene Expression Profile | Classification of glioblastoma into molecular subtypes as defined by gene expression profiling. | MONDO:0018177 | +| MONDO:0853267 | thymoma by masaoka-koga stage | NCIT:C112006 | MONDO:equivalentTo | Thymoma by Masaoka-Koga Stage | A staging system for thymoma based on the anatomic extent of disease at the time of surgery. | MONDO:0006456 | +| MONDO:0853279 | uterine carcinosarcoma, homologous type | NCIT:C113238 | MONDO:equivalentTo | Uterine Carcinosarcoma, Homologous Type | A carcinosarcoma of the uterus characterized by the presence of sarcomatous elements that arise from the tissues of the uterus. | MONDO:0006485 | +| MONDO:0853280 | uterine carcinosarcoma, heterologous type | NCIT:C113239 | MONDO:equivalentTo | Uterine Carcinosarcoma, Heterologous Type | A carcinosarcoma of the uterus characterized by the presence of sarcomatous elements composed of tissues that are not found in the uterus (e.g., bone, cartilage, skeletal muscle). | MONDO:0006485 | +| MONDO:0853284 | main duct pancreatic intraductal papillary-mucinous neoplasm | NCIT:C113664 | MONDO:equivalentTo | Main Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm | An intraductal papillary-mucinous neoplasm of the pancreas that arises from the main pancreatic duct. | MONDO:0004286 | +| MONDO:0853285 | branch duct pancreatic intraductal papillary-mucinous neoplasm | NCIT:C113665 | MONDO:equivalentTo | Branch Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm | An intraductal papillary-mucinous neoplasm of the pancreas that arises in one of the branches of the main pancreatic duct. It usually has an indolent behavior. | MONDO:0004286 | +| MONDO:0853286 | mixed type pancreatic intraductal papillary-mucinous neoplasm | NCIT:C113667 | MONDO:equivalentTo | Mixed Type Pancreatic Intraductal Papillary-Mucinous Neoplasm | An intraductal papillary-mucinous neoplasm of the pancreas that arises primarily from the main pancreatic duct and extends to the branch ducts. | MONDO:0004286 | +| MONDO:0853303 | adult undifferentiated high grade pleomorphic sarcoma of bone | NCIT:C114782 | MONDO:equivalentTo | Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone | An undifferentiated high grade pleomorphic sarcoma that arises from the bone and occurs during adulthood. | MONDO:0002618 | +| MONDO:0853306 | metastatic malignant neoplasm in the soft tissues | NCIT:C114831 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Soft Tissues | A malignant neoplasm that has spread to the soft tissues from another anatomic site. | MONDO:0024880 | +| MONDO:0853313 | adult epithelioid hemangioendothelioma | NCIT:C114923 | MONDO:equivalentTo | Adult Epithelioid Hemangioendothelioma | An epithelioid hemangioendothelioma that occurs during adulthood. | MONDO:0015523 | +| MONDO:0853316 | central nervous system hodgkin lymphoma | NCIT:C114951 | MONDO:equivalentTo | Central Nervous System Hodgkin Lymphoma | A Hodgkin lymphoma that arises from the central nervous system. | MONDO:0004952|MONDO:0002571 | +| MONDO:0853326 | adult fibrolamellar carcinoma | NCIT:C114992 | MONDO:equivalentTo | Adult Fibrolamellar Carcinoma | Fibrolamellar variant of hepatocellular carcinoma that occurs during adulthood. | MONDO:0016216|MONDO:0006210 | +| MONDO:0853331 | hepatocellular carcinoma by bclc stage | NCIT:C115132 | MONDO:equivalentTo | Hepatocellular Carcinoma by BCLC Stage | A staging classification system for hepatocellular carcinoma that uses variables related to tumor stage, liver functional status, physical status, and cancer-related symptoms, and links the stages with a treatment algorithm. (HPB (Oxford) 2005; 7(1):35-41) | MONDO:0007256 | +| MONDO:0853337 | adult myelodysplastic syndrome | NCIT:C115153 | MONDO:equivalentTo | Adult Myelodysplastic Syndrome | Myelodysplastic syndrome that occurs in adulthood. | MONDO:0018881 | +| MONDO:0853343 | distal urethral carcinoma | NCIT:C115210 | MONDO:equivalentTo | Distal Urethral Carcinoma | A carcinoma that arises from the distal part of the urethra. | MONDO:0021327 | +| MONDO:0853344 | familial testicular germ cell tumor | NCIT:C115211 | MONDO:equivalentTo | Familial Testicular Germ Cell Tumor | Germ cell tumor that arises from the testis and is diagnosed in at least two relatives. | MONDO:0010108 | +| MONDO:0853348 | proximal urethral carcinoma | NCIT:C115334 | MONDO:equivalentTo | Proximal Urethral Carcinoma | A carcinoma that arises from the proximal part of the urethra. | MONDO:0021327 | +| MONDO:0853359 | invasive bladder urothelial carcinoma associated with urethral carcinoma | NCIT:C115966 | MONDO:equivalentTo | Invasive Bladder Urothelial Carcinoma Associated with Urethral Carcinoma | Invasive urothelial carcinoma of the bladder which is associated with the presence of in situ or infiltrating urethral carcinoma. | MONDO:0040678 | +| MONDO:0853386 | congenital cystic hygroma | NCIT:C116899 | MONDO:equivalentTo | Congenital Cystic Hygroma | A congenital lymphatic malformation usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. | MONDO:0009761 | +| MONDO:0853405 | anaplastic plasmacytoma | NCIT:C118421 | MONDO:equivalentTo | Anaplastic Plasmacytoma | A plasmacytoma characterized by the presence of malignant plasma cells with anaplastic features. | MONDO:0005615|MONDO:0020633 | +| MONDO:0853427 | adult penile carcinoma | NCIT:C118820 | MONDO:equivalentTo | Adult Penile Carcinoma | A carcinoma of the penis that occurs during adulthood. | MONDO:0006360 | +| MONDO:0853431 | adult salivary gland carcinoma | NCIT:C118825 | MONDO:equivalentTo | Adult Salivary Gland Carcinoma | A carcinoma of the salivary gland that occurs during adulthood. | MONDO:0000521 | +| MONDO:0853434 | orbital melanoma | NCIT:C118828 | MONDO:equivalentTo | Orbital Melanoma | A melanoma that arises from the structures of the orbit. | MONDO:0002889|MONDO:0005105 | +| MONDO:0853464 | malignant kidney neoplasm except pelvis | NCIT:C120456 | MONDO:equivalentTo | Malignant Kidney Neoplasm Except Pelvis | A malignant neoplasm that affects the renal parenchyma but not the pelvis. | MONDO:0002367 | +| MONDO:0853467 | mammary-type myofibroblastoma | NCIT:C121181 | MONDO:equivalentTo | Mammary-Type Myofibroblastoma | A benign mesenchymal neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. It is histologically identical to the myofibroblastoma of breast. It usually arises from the subcutaneous tissue and the most common sites of involvement are the inguinal/groin, paratesticular, and vulvovaginal areas. | MONDO:0040675 | +| MONDO:0853473 | leiomyosarcoma of deep soft tissue | NCIT:C121571 | MONDO:equivalentTo | Leiomyosarcoma of Deep Soft Tissue | A rare leiomyosarcoma that arises from the deep soft tissue in the retroperitoneum or abdominal cavity. | MONDO:0018078|MONDO:0005058 | +| MONDO:0853476 | spindle cell/sclerosing rhabdomyosarcoma | NCIT:C121654 | MONDO:equivalentTo | Spindle Cell/Sclerosing Rhabdomyosarcoma | An uncommon variant of rhabdomyosarcoma with spindle cell or sclerosing morphology. It affects both children and adults and it is more common in males. | MONDO:0005212 | +| MONDO:0853478 | soft tissue angiosarcoma | NCIT:C121671 | MONDO:equivalentTo | Soft Tissue Angiosarcoma | An angiosarcoma that arises from the soft tissues, usually in the deep muscles of the lower extremities, retroperitoneum, mediastinum, and mesentery. | MONDO:0018078|MONDO:0016982 | +| MONDO:0853479 | conventional schwannoma | NCIT:C121677 | MONDO:equivalentTo | Conventional Schwannoma | A common, usually encapsulated benign nerve sheath tumor composed of well-differentiated Schwann cells. | MONDO:0002546 | +| MONDO:0853481 | solitary circumscribed neuroma | NCIT:C121681 | MONDO:equivalentTo | Solitary Circumscribed Neuroma | A benign peripheral nerve sheath tumor characterized by the presence of Schwann cells, axons, and perineurial fibroblasts. It usually arises from the skin of the head and neck or the oral mucosa. It presents as a solitary and painless nodular mass. | MONDO:0002547|MONDO:0000648 | +| MONDO:0853483 | hybrid nerve sheath tumor | NCIT:C121686 | MONDO:equivalentTo | Hybrid Nerve Sheath Tumor | A benign nerve sheath tumor characterized by the combination of histologic features seen in schwannomas, neurofibromas, and perineuriomas. | MONDO:0002547|MONDO:0000648|MONDO:0021043 | +| MONDO:0853491 | malignant mixed tumor, not otherwise specified | NCIT:C121787 | MONDO:equivalentTo | Malignant Mixed Tumor, Not Otherwise Specified | A malignant myoepithelioma characterized by the presence of a minor ductal component. | MONDO:0003158|MONDO:0005853 | +| MONDO:0853492 | benign phosphaturic mesenchymal tumor | NCIT:C121788 | MONDO:equivalentTo | Benign Phosphaturic Mesenchymal Tumor | A phosphaturic mesenchymal tumor with benign histologic features. It may recur locally but does not metastasize. Complete excision is curative. | MONDO:0006368|MONDO:0000654 | +| MONDO:0853493 | malignant phosphaturic mesenchymal tumor | NCIT:C121789 | MONDO:equivalentTo | Malignant Phosphaturic Mesenchymal Tumor | A phosphaturic mesenchymal tumor characterized by the presence of nuclear atypia, high mitotic activity, increased cellularity, marked pleomorphism, and necrosis. It usually develops in lesions that have recurred locally and metastasizes to other sites. | MONDO:0006368|MONDO:0002927 | +| MONDO:0853494 | sclerosing pecoma | NCIT:C121790 | MONDO:equivalentTo | Sclerosing PEComa | A tumor with perivascular epithelioid cell differentiation characterized by the presence of cords of neoplastic cells in a densely collagenous stroma. | MONDO:0006359 | +| MONDO:0853495 | undifferentiated soft tissue sarcoma | NCIT:C121793 | MONDO:equivalentTo | Undifferentiated Soft Tissue Sarcoma | A term that refers to a heterogeneous group of uncommon soft tissue sarcomas that do not show an identifiable line of differentiation using currently available technologies. This is a diagnosis of exclusion and includes undifferentiated pleomorphic sarcoma (also known as malignant fibrous histiocytoma), undifferentiated spindle cell sarcoma, undifferentiated round cell sarcoma, and undifferentiated epithelioid sarcoma. | MONDO:0018078 | +| MONDO:0853498 | osteochondromyxoma | NCIT:C121842 | MONDO:equivalentTo | Osteochondromyxoma | A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. It may be a locally destructive neoplasm and has been reported in patients with Carney complex. | MONDO:0000631|MONDO:0024470 | +| MONDO:0853499 | subungual exostosis | NCIT:C121844 | MONDO:equivalentTo | Subungual Exostosis | A benign tumor that affects the distal phalanx, most often the great toe. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone. Pain and swelling are present. Simple resection is usually curative. | MONDO:0024470 | +| MONDO:0853500 | bizarre parosteal osteochondromatous proliferation | NCIT:C121845 | MONDO:equivalentTo | Bizarre Parosteal Osteochondromatous Proliferation | A benign lesion that usually affects the proximal small bones of the hands or feet. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by the presence of spindle cells, cartilage, and bone, usually in a disorganized pattern compared to subungual exostosis. Enlarged (bizarre) chondrocytes are present in the cartilage. Swelling with or without pain is present. Recurrences following resection have been reported in approximately half of cases. | MONDO:0024470 | +| MONDO:0853501 | intermediate chondrogenic neoplasm | NCIT:C121846 | MONDO:equivalentTo | Intermediate Chondrogenic Neoplasm | A locally aggressive or rarely metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. | MONDO:0024469 | +| MONDO:0853502 | chondrosarcoma, grade 2 | NCIT:C121870 | MONDO:equivalentTo | Chondrosarcoma, Grade 2 | An intermediate-grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma. It is characterized by the presence of increased cellularity and a greater degree of nuclear atypia and hyperchromasia as compared to grade 1 chondrosarcoma. Mitotic activity is present. | MONDO:0008977 | +| MONDO:0853503 | chondrosarcoma, grade 3 | NCIT:C121871 | MONDO:equivalentTo | Chondrosarcoma, Grade 3 | A high-grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma. It is characterized by the presence of increased cellularity and a greater degree of nuclear atypia, hyperchromasia, and mitotic activity as compared to grade 2 chondrosarcoma. | MONDO:0008977 | +| MONDO:0853504 | benign notochordal cell tumor | NCIT:C121901 | MONDO:equivalentTo | Benign Notochordal Cell Tumor | An intraosseous benign tumor of notochord origin that arises in the bones of the base of the skull, vertebral bodies, sacrum or coccyx. It contains vacuolated tumor cells without atypia, but lacks myxoid matrix, necrosis, and lobular architecture, which are features that characterize its malignant counterpart, chordoma. Most lesions are incidental findings. | MONDO:0002597|MONDO:0000631 | +| MONDO:0853507 | intermediate osteogenic neoplasm | NCIT:C121925 | MONDO:equivalentTo | Intermediate Osteogenic Neoplasm | A non-metastasizing, locally aggressive, bone-forming neoplasm. | MONDO:0045053 | +| MONDO:0853508 | intermediate bone neoplasm | NCIT:C121926 | MONDO:equivalentTo | Intermediate Bone Neoplasm | A locally aggressive or rarely metastasizing neoplasm that arises from the bone. | MONDO:0019060 | +| MONDO:0853510 | primary bone non-hodgkin lymphoma | NCIT:C121930 | MONDO:equivalentTo | Primary Bone Non-Hodgkin Lymphoma | A non-Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most frequently affected areas. The majority of cases are diffuse large B-cell lymphomas. Most patients present with pain in the affected area. Systemic symptoms are rare. | MONDO:0017814|MONDO:0018908 | +| MONDO:0853512 | bone epithelioid hemangioendothelioma | NCIT:C121941 | MONDO:equivalentTo | Bone Epithelioid Hemangioendothelioma | A low-grade malignant blood vessel neoplasm arising from the bone. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. | MONDO:0024499|MONDO:0002129|MONDO:0015523 | +| MONDO:0853515 | acute lymphoblastic leukemia by gene expression profile | NCIT:C121973 | MONDO:equivalentTo | Acute Lymphoblastic Leukemia by Gene Expression Profile | Gene expression-based patient cluster groups in acute lymphoblastic leukemia. | MONDO:0004967 | +| MONDO:0853523 | borderline ovarian serous tumor/atypical proliferative ovarian serous tumor | NCIT:C122584 | MONDO:equivalentTo | Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor | A non-invasive serous neoplasm that arises from the ovary and shows greater cellular proliferation and cytologic atypia as compared to benign ovarian serous tumors, but less as compared to low-grade ovarian serous carcinoma. | MONDO:0020662 | +| MONDO:0853524 | borderline ovarian serous tumor-micropapillary variant/non-invasive low grade ovarian serous carcinoma | NCIT:C122585 | MONDO:equivalentTo | Borderline Ovarian Serous Tumor-Micropapillary Variant/Non-Invasive Low Grade Ovarian Serous Carcinoma | A non-invasive serous neoplasm that arises from the ovary and shows micropapillary and/or cribriform architectural patterns. It is composed of round epithelial cells with scant cytoplasm and moderate nuclear atypia. | MONDO:0020662 | +| MONDO:0853525 | infant leukemia | NCIT:C122603 | MONDO:equivalentTo | Infant Leukemia | An acute lymphoblastic or acute myeloid leukemia that occurs in infancy. | MONDO:0004355 | +| MONDO:0853528 | childhood acute myeloid leukemia not otherwise specified | NCIT:C122625 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia Not Otherwise Specified | Acute myeloid leukemias that occur in childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. | MONDO:0015667|MONDO:0004996 | +| MONDO:0853529 | hypoplastic myelodysplastic syndrome | NCIT:C122686 | MONDO:equivalentTo | Hypoplastic Myelodysplastic Syndrome | Myelodysplastic syndrome characterized by decreased cellularity in the bone marrow. | MONDO:0018881 | +| MONDO:0853530 | cytogenetically normal acute myeloid leukemia | NCIT:C122687 | MONDO:equivalentTo | Cytogenetically Normal Acute Myeloid Leukemia | Acute myeloid leukemia not associated with cytogenetic abnormalities. | MONDO:0018874 | +| MONDO:0853532 | childhood acute myeloid leukemia with abnormalities of chromosome 5q | NCIT:C122725 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q | A rare acute myeloid leukemia that occurs in childhood and is characterized primarily by deletions of 5q. | MONDO:0004996 | +| MONDO:0853533 | childhood acute myeloid leukemia with abnormalities of chromosome 7 | NCIT:C122726 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 | A rare acute myeloid leukemia that occurs in childhood and is characterized by deletion of chromosome 7. | MONDO:0004996 | +| MONDO:0853659 | childhood lymphomatoid granulomatosis | NCIT:C123392 | MONDO:equivalentTo | Childhood Lymphomatoid Granulomatosis | Lymphomatoid granulomatosis that occurs during childhood. | MONDO:0019466 | +| MONDO:0853660 | childhood langerhans cell histiocytosis with risk organ involvement | NCIT:C123395 | MONDO:equivalentTo | Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement | Langerhans cell histiocytosis that occurs during childhood and involves the bone marrow, spleen, liver, or lung. | MONDO:0017025 | +| MONDO:0853661 | childhood langerhans cell histiocytosis without risk organ involvement | NCIT:C123396 | MONDO:equivalentTo | Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement | Langerhans cell histiocytosis that occurs during childhood and does not involve the bone marrow, spleen, liver, or lung. | MONDO:0017025 | +| MONDO:0853668 | fusion-positive rhabdomyosarcoma | NCIT:C123735 | MONDO:equivalentTo | Fusion-Positive Rhabdomyosarcoma | A rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion. | MONDO:0005212 | +| MONDO:0853669 | fusion-negative rhabdomyosarcoma | NCIT:C123736 | MONDO:equivalentTo | Fusion-Negative Rhabdomyosarcoma | A rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion. | MONDO:0005212 | +| MONDO:0853671 | refractory malignant germ cell tumor | NCIT:C123739 | MONDO:equivalentTo | Refractory Malignant Germ Cell Tumor | Malignant germ cell tumor resistant to treatment. | MONDO:0006290|MONDO:0036501 | +| MONDO:0853673 | childhood germinomatous germ cell tumor | NCIT:C123838 | MONDO:equivalentTo | Childhood Germinomatous Germ Cell Tumor | A germinomatous germ cell tumor occurring in children. | MONDO:0020580|MONDO:0003751 | +| MONDO:0853675 | childhood nongerminomatous germ cell tumor | NCIT:C123841 | MONDO:equivalentTo | Childhood Nongerminomatous Germ Cell Tumor | A nongerminomatous germ cell tumor occurring in children. | MONDO:0021656|MONDO:0003751 | +| MONDO:0853680 | childhood mixed germ cell tumor | NCIT:C123848 | MONDO:equivalentTo | Childhood Mixed Germ Cell Tumor | A mixed germ cell tumor occurring in children. | MONDO:0015864|MONDO:0004479|MONDO:0005853 | +| MONDO:0853693 | childhood astrocytoma | NCIT:C124275 | MONDO:equivalentTo | Childhood Astrocytoma | An astrocytoma that occurs during childhood. | MONDO:0019781|MONDO:0002505 | +| MONDO:0853694 | childhood atypical choroid plexus papilloma | NCIT:C124291 | MONDO:equivalentTo | Childhood Atypical Choroid Plexus Papilloma | An atypical choroid plexus papilloma that occurs during childhood. | MONDO:0002684|MONDO:0024744 | +| MONDO:0853721 | ovarian adenomatoid tumor | NCIT:C126331 | MONDO:equivalentTo | Ovarian Adenomatoid Tumor | A rare benign mesothelial tumor that arises from the ovary. It is characterized by the presence of gland-like structures. | MONDO:0004230|MONDO:0000646 | +| MONDO:0853728 | chronic eosinophilic leukemia with fip1l1-pdgfra | NCIT:C126351 | MONDO:equivalentTo | Chronic Eosinophilic Leukemia with FIP1L1-PDGFRA | Chronic eosinophilic leukemia characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. | MONDO:0015689|MONDO:0001014 | +| MONDO:0853729 | primary peritoneal high grade serous adenocarcinoma | NCIT:C126353 | MONDO:equivalentTo | Primary Peritoneal High Grade Serous Adenocarcinoma | A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features. | MONDO:0006386 | +| MONDO:0853730 | primary peritoneal low grade serous adenocarcinoma | NCIT:C126354 | MONDO:equivalentTo | Primary Peritoneal Low Grade Serous Adenocarcinoma | A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features. | MONDO:0006386 | +| MONDO:0853731 | peritoneal desmoplastic small round cell tumor | NCIT:C126356 | MONDO:equivalentTo | Peritoneal Desmoplastic Small Round Cell Tumor | A desmoplastic small round cell tumor that occurs in the abdominal and/or pelvic peritoneum. | MONDO:0019373|MONDO:0002087 | +| MONDO:0853732 | pelvic fibromatosis | NCIT:C126358 | MONDO:equivalentTo | Pelvic Fibromatosis | Fibromatosis that occurs in the pelvis. It affects almost always females. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern. It recurs if incompletely resected but lacks metastatic potential. | MONDO:0007608 | +| MONDO:0853733 | abdominal inflammatory myofibroblastic tumor | NCIT:C126359 | MONDO:equivalentTo | Abdominal Inflammatory Myofibroblastic Tumor | Inflammatory myofibroblastic tumor that arises from the abdominal cavity. | MONDO:0015798 | +| MONDO:0853734 | thyroid gland cribriform morular carcinoma | NCIT:C126408 | MONDO:equivalentTo | Thyroid Gland Cribriform Morular Carcinoma | A thyroid gland carcinoma characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. It may occur with familial adenomatous polyposis or sporadically. | MONDO:0015075 | +| MONDO:0853735 | thyroid gland papillary carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma | NCIT:C126410 | MONDO:equivalentTo | Thyroid Gland Papillary Carcinoma with Fibromatosis/Fasciitis-Like/Desmoid-Type Stroma | A rare morphologic variant of papillary thyroid gland carcinoma characterized by the presence of abundant and cellular stroma resembling nodular fasciitis, fibromatosis, or other proliferative myofibroblastic processes. (WHO) | MONDO:0005075 | +| MONDO:0853736 | fallopian tube high grade serous adenocarcinoma | NCIT:C126456 | MONDO:equivalentTo | Fallopian Tube High Grade Serous Adenocarcinoma | A rapidly growing serous adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of high grade cytologic features and frequent mitotic figures. | MONDO:0006208 | +| MONDO:0853738 | fallopian tube lymphoma | NCIT:C126464 | MONDO:equivalentTo | Fallopian Tube Lymphoma | An exceedingly rare lymphoma that arises from the fallopian tube. | MONDO:0002158|MONDO:0017207 | +| MONDO:0853742 | broad ligament serous adenocarcinoma | NCIT:C126479 | MONDO:equivalentTo | Broad Ligament Serous Adenocarcinoma | A rare serous adenocarcinoma that arises from the broad ligament. | MONDO:0002741|MONDO:0005278 | +| MONDO:0853743 | oropharyngeal poorly differentiated carcinoma | NCIT:C126750 | MONDO:equivalentTo | Oropharyngeal Poorly Differentiated Carcinoma | A high-grade carcinoma that arises from the oropharynx. It is characterized by the presence of malignant cells which bear minimal resemblance to the cells from which they arose. | MONDO:0044704 | +| MONDO:0853745 | endometrial dedifferentiated carcinoma | NCIT:C126769 | MONDO:equivalentTo | Endometrial Dedifferentiated Carcinoma | A carcinoma that arises from the endometrium and is characterized by the presence of an undifferentiated carcinomatous component and a second component of either FIGO grade 1 or 2 endometrioid carcinoma. | MONDO:0002447 | +| MONDO:0853748 | uterine corpus hydropic leiomyoma | NCIT:C126975 | MONDO:equivalentTo | Uterine Corpus Hydropic Leiomyoma | A variant of leiomyoma arising from the uterine corpus. It is characterized by conspicuous zonal edema. Hyalinization may also be present. | MONDO:0007886 | +| MONDO:0853749 | uterine corpus high grade endometrial stromal sarcoma | NCIT:C126998 | MONDO:equivalentTo | Uterine Corpus High Grade Endometrial Stromal Sarcoma | A rare, high grade sarcoma that arises from the endometrial stroma. It is characterized by round cell morphology. It was previously also known as undifferentiated uterine sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. | MONDO:0002923 | +| MONDO:0853751 | benign uterine corpus pecoma | NCIT:C127071 | MONDO:equivalentTo | Benign Uterine Corpus PEComa | A benign neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus. It is characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. It usually affects perimenopausal women. Patients present with a pelvic mass or abnormal bleeding. | MONDO:0004221|MONDO:0020581|MONDO:0021525 | +| MONDO:0853753 | uterine corpus germ cell tumor | NCIT:C127077 | MONDO:equivalentTo | Uterine Corpus Germ Cell Tumor | A benign or malignant germ cell tumor that arises from the uterine corpus. Representative examples include teratoma and yolk sac tumor. | MONDO:0021254|MONDO:0018201 | +| MONDO:0853764 | cervical neuroendocrine neoplasm | NCIT:C128041 | MONDO:equivalentTo | Cervical Neuroendocrine Neoplasm | A neuroendocrine neoplasm that arises from the cervix. This category includes neuroendocrine tumor grade 1, neuroendocrine tumor grade 2, and neuroendocrine carcinoma (small cell and large cell neuroendocrine carcinoma). | MONDO:0019496|MONDO:0021230 | +| MONDO:0853771 | vaginal papillary carcinoma | NCIT:C128060 | MONDO:equivalentTo | Vaginal Papillary Carcinoma | A rare squamous cell carcinoma that arises from the vagina resembling transitional cell carcinoma of the urinary tract. | MONDO:0002979|MONDO:0006490 | +| MONDO:0853775 | ovarian cancer by figo stage | NCIT:C128081 | MONDO:equivalentTo | Ovarian Cancer by FIGO Stage | A category of staging terms for ovarian cancer according to the International Federation of Gynecology and Obstetrics (FIGO), 2014. AJCC ovarian cancer stage terms from the 6th and 7th editions that are synonymous to the FIGO ovarian cancer staging classification of 2014 are included as preferred terms. | MONDO:0005140 | +| MONDO:0853776 | ovarian cancer by ajcc v6 and v7 stage | NCIT:C128106 | MONDO:equivalentTo | Ovarian Cancer by AJCC v6 and v7 Stage | A category of staging terms for ovarian cancer according to the American Joint Committee on cancer (AJCC) 6th and 7th editions. International Federation of Gynecology and Obstetrics (FIGO) ovarian cancer staging terms prior to 2014 are included in this category if synonymous with the AJCC terms. | MONDO:0005140 | +| MONDO:0853779 | vaginal germ cell tumor | NCIT:C128112 | MONDO:equivalentTo | Vaginal Germ Cell Tumor | A germ tumor that arises from the vagina. | MONDO:0005040|MONDO:0021050 | +| MONDO:0853781 | vulvar squamous intraepithelial lesion, hpv-associated | NCIT:C128142 | MONDO:equivalentTo | Vulvar Squamous Intraepithelial Lesion, HPV-Associated | An intraepithelial lesion of the vulvar squamous epithelium associated with HPV infection. It is characterized by maturation abnormalities and nuclear hyperchromasia that are confined to the basement membrane. | MONDO:0005198 | +| MONDO:0853784 | vulvar adenocarcinoma of mammary gland type | NCIT:C128162 | MONDO:equivalentTo | Vulvar Adenocarcinoma of Mammary Gland Type | A primary invasive malignant epithelial neoplasm of the vulva showing morphological features of recognized breast adenocarcinomas. (WHO, 2014) | MONDO:0024336 | +| MONDO:0853787 | vulvar mucinous adenocarcinoma, intestinal-type | NCIT:C128166 | MONDO:equivalentTo | Vulvar Mucinous Adenocarcinoma, Intestinal-Type | A rare vulvar mucinous adenocarcinoma that resembles a large intestinal adenocarcinoma. | MONDO:0004957|MONDO:0024336|MONDO:0006254 | +| MONDO:0853788 | vulvar keratoacanthoma | NCIT:C128167 | MONDO:equivalentTo | Vulvar Keratoacanthoma | A keratoacanthoma that arises from the vulva. It grows rapidly and may regress spontaneously. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. | MONDO:0024609|MONDO:0002527 | +| MONDO:0853797 | vulvar germ cell tumor | NCIT:C128294 | MONDO:equivalentTo | Vulvar Germ Cell Tumor | A rare germ cell tumor that arises from the vulva. | MONDO:0005040|MONDO:0021049 | +| MONDO:0853835 | b acute lymphoblastic leukemia, philadelphia chromosome negative | NCIT:C128629 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative | A B-acute lymphoblastic leukemia (B-ALL) that does not have the cytogenetic abnormality t(9;22)(q34;q11.2). Most cases of B-ALL do not have this translocation. | MONDO:0020511 | +| MONDO:0853837 | nk-cell lymphoma, unclassifiable | NCIT:C128697 | MONDO:equivalentTo | NK-Cell Lymphoma, Unclassifiable | A very rare NK-cell lymphoma with pathologic and clinical features posing difficulty in its exact diagnosis and classification. | MONDO:0000430 | +| MONDO:0853840 | cutaneous malignant melanoma 2 | NCIT:C128801 | MONDO:equivalentTo | Cutaneous Malignant Melanoma 2 | An autosomal dominant genetic disorder caused by mutations in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by cutaneous malignant melanoma associated with this genetic alteration. | MONDO:0018961 | +| MONDO:0853846 | glioblastoma, not otherwise specified | NCIT:C129295 | MONDO:equivalentTo | Glioblastoma, Not Otherwise Specified | A central nervous system tumor with morphological features of glioblastoma in which there is insufficient information on the IDH genes status. | MONDO:0018177 | +| MONDO:0853849 | oligodendroglioma, idh-mutant and 1p/19q-codeleted | NCIT:C129318 | MONDO:equivalentTo | Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted | An oligodendroglioma carrying IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). | MONDO:0016695 | +| MONDO:0853850 | oligodendroglioma, not otherwise specified | NCIT:C129319 | MONDO:equivalentTo | Oligodendroglioma, Not Otherwise Specified | A central nervous system tumor with morphological features of oligodendroglioma in which there is insufficient information on the IDH genes and 1p/19q codeletion status. | MONDO:0016695 | +| MONDO:0853851 | anaplastic oligodendroglioma, idh-mutant and 1p/19q-codeleted | NCIT:C129321 | MONDO:equivalentTo | Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted | An anaplastic oligodendroglioma carrying IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). | MONDO:0016696 | +| MONDO:0853852 | anaplastic oligodendroglioma, not otherwise specified | NCIT:C129322 | MONDO:equivalentTo | Anaplastic Oligodendroglioma, Not Otherwise Specified | A central nervous system tumor with morphological features of anaplastic oligodendroglioma in which there is insufficient information on the IDH genes and 1p/19q codeletion status. | MONDO:0016696 | +| MONDO:0853853 | oligoastrocytoma, not otherwise specified | NCIT:C129323 | MONDO:equivalentTo | Oligoastrocytoma, Not Otherwise Specified | A central nervous system tumor with morphological features of oligoastrocytoma in which there is insufficient information on the IDH genes status. | MONDO:0016702 | +| MONDO:0853854 | anaplastic oligoastrocytoma, not otherwise specified | NCIT:C129324 | MONDO:equivalentTo | Anaplastic Oligoastrocytoma, Not Otherwise Specified | A central nervous system tumor with morphological features of anaplastic oligoastrocytoma in which there is insufficient information on the IDH genes status. | MONDO:0016703 | +| MONDO:0853855 | diffuse glioma | NCIT:C129325 | MONDO:equivalentTo | Diffuse Glioma | A glioma that has diffusely infiltrated the surrounding central nervous system tissues. | MONDO:0021042 | +| MONDO:0853856 | anaplastic pleomorphic xanthoastrocytoma | NCIT:C129327 | MONDO:equivalentTo | Anaplastic Pleomorphic Xanthoastrocytoma | A WHO grade 3 pleomorphic xanthoastrocytoma characterized by the presence of five or more mitoses per 10 high-power fields. Necrosis may be present. Patients have shorter survival rates when compared to those with WHO grade 2 pleomorphic xanthoastrocytoma. | MONDO:0019781|MONDO:0021640|MONDO:0020633 | +| MONDO:0853857 | diffuse leptomeningeal glioneuronal tumor | NCIT:C129424 | MONDO:equivalentTo | Diffuse Leptomeningeal Glioneuronal Tumor | A relatively slow growing diffuse leptomeningeal neoplasm usually affecting children and adolescents. It is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. A neuronal component may be present. The prognosis is variable. | MONDO:0016729 | +| MONDO:0853858 | multinodular and vacuolated neuronal tumor | NCIT:C129427 | MONDO:equivalentTo | Multinodular and Vacuolated Neuronal Tumor | A low-grade tumor affecting the cerebral hemispheres. It is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation. | MONDO:0016729|MONDO:0021632|MONDO:0021374 | +| MONDO:0853859 | medulloblastoma molecular subtypes | NCIT:C129439 | MONDO:equivalentTo | Medulloblastoma Molecular Subtypes | A term that refers to the classification of medulloblastomas according to their molecular characteristics. | MONDO:0007959 | +| MONDO:0853860 | medulloblastoma, not otherwise specified | NCIT:C129447 | MONDO:equivalentTo | Medulloblastoma, Not Otherwise Specified | A medulloblastoma which has not been further characterized. | MONDO:0007959 | +| MONDO:0853861 | small cell adenocarcinoma | NCIT:C129449 | MONDO:equivalentTo | Small Cell Adenocarcinoma | An adenocarcinoma composed of small malignant cells. | MONDO:0004970 | +| MONDO:0853862 | central nervous system solitary fibrous tumor | NCIT:C129526 | MONDO:equivalentTo | Central Nervous System Solitary Fibrous Tumor | A mesenchymal, non-meningothelial neoplasm arising from the central nervous system. It is characterized by a collagenous and low cellularity spindle cell and/or hemangiopericytomatous histopathological pattern, recurrent intrachromosomal rearrangement on chromosome 12q that results in the fusion of the NAB2 and STAT6 genes, high recurrence rates, and long-term risk of systemic metastasis. | MONDO:0003244|MONDO:0016238 | +| MONDO:0853863 | central nervous system mesenchymal chondrosarcoma | NCIT:C129534 | MONDO:equivalentTo | Central Nervous System Mesenchymal Chondrosarcoma | A mesenchymal chondrosarcoma that arises from the central nervous system. | MONDO:0002217|MONDO:0006853 | +| MONDO:0853864 | central nervous system epithelioid hemangioendothelioma | NCIT:C129536 | MONDO:equivalentTo | Central Nervous System Epithelioid Hemangioendothelioma | A low-grade malignant blood vessel neoplasm that arises from the central nervous system. It is characterized by the presence of epithelioid endothelial cells. | MONDO:0037740|MONDO:0015523 | +| MONDO:0853865 | central nervous system angiolipoma | NCIT:C129538 | MONDO:equivalentTo | Central Nervous System Angiolipoma | An angiolipoma that arises from the central nervous system. | MONDO:0003844|MONDO:0006085 | +| MONDO:0853866 | central nervous system undifferentiated pleomorphic sarcoma | NCIT:C129566 | MONDO:equivalentTo | Central Nervous System Undifferentiated Pleomorphic Sarcoma | A rare undifferentiated pleomorphic sarcoma (formerly known as malignant fibrous histiocytoma) involving the central nervous system. | MONDO:0002217|MONDO:0002142 | +| MONDO:0853868 | central nervous system anaplastic large cell lymphoma, alk-positive | NCIT:C129598 | MONDO:equivalentTo | Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Positive | An anaplastic large cell lymphoma, ALK-positive, arising from the central nervous system. | MONDO:0006128|MONDO:0017602 | +| MONDO:0853869 | central nervous system anaplastic large cell lymphoma, alk-negative | NCIT:C129599 | MONDO:equivalentTo | Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Negative | An anaplastic large cell lymphoma, ALK-negative, arising from the central nervous system. | MONDO:0006128|MONDO:0017603 | +| MONDO:0853870 | central nervous system intravascular large b-cell lymphoma | NCIT:C129602 | MONDO:equivalentTo | Central Nervous System Intravascular Large B-Cell Lymphoma | A rare extranodal B-cell non-Hodgkin lymphoma that affects the central nervous system. It is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. | MONDO:0017596|MONDO:0020324 | +| MONDO:0853881 | acute myeloid leukemia with biallelic cebpa mutation | NCIT:C129782 | MONDO:equivalentTo | Acute Myeloid Leukemia with Biallelic CEBPA Mutation | An acute myeloid leukemia with double mutations of the CEBPA gene. | MONDO:0017894 | +| MONDO:0853882 | acute myeloid leukemia with monoallelic cebpa mutation | NCIT:C129783 | MONDO:equivalentTo | Acute Myeloid Leukemia with Monoallelic CEBPA Mutation | An acute myeloid leukemia with single mutations of the CEBPA gene. | MONDO:0017894 | +| MONDO:0853884 | b lymphoblastic leukemia/lymphoma, bcr-abl1-like | NCIT:C129787 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | B lymphoblastic leukemia/lymphoma characterized by a gene-expression profile similar to that of BCR-ABL1-positive B lymphoblastic leukemia/lymphoma, absence of the pathognomonic BCR-ABL1 rearrangement, alterations of lymphoid transcription factor genes, and a poor outcome. | MONDO:0035605 | +| MONDO:0853887 | metastatic transitional cell carcinoma | NCIT:C129828 | MONDO:equivalentTo | Metastatic Transitional Cell Carcinoma | A carcinoma that arises from transitional cells and has spread from its original site of growth to another anatomic site. | MONDO:0024879|MONDO:0006474 | +| MONDO:0853888 | chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)(q31;p12) | NCIT:C129852 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) | Chronic myelomonocytic leukemia characterized by the presence of eosinophilia, PDGFRB gene rearrangement, and t(5;12)(q31;p12). | MONDO:0015690 | +| MONDO:0853892 | chronic myelomonocytic leukemia-0 | NCIT:C130035 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia-0 | A chronic myelomonocytic leukemia characterized by the presence of less than 5 percent blasts in the bone marrow and less than 2 percent blasts in the peripheral blood. | MONDO:0020311 | +| MONDO:0853893 | myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia | NCIT:C130037 | MONDO:equivalentTo | Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia | A myelodysplastic syndrome with ring sideroblasts and dysplastic changes involving only one myeloid cell lineage in the bone marrow. | MONDO:0019157 | +| MONDO:0853894 | b lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21 | NCIT:C130039 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 | B lymphoblastic leukemia/lymphoma characterized by amplification of a portion of chromosome 21. It usually occurs in children and is associated with an adverse prognosis. | MONDO:0035605 | +| MONDO:0853943 | anastomosing hemangioma | NCIT:C131760 | MONDO:equivalentTo | Anastomosing Hemangioma | An unusual variant of capillary hemangioma. It is characterized by a unique anastomosing sinusoidal-like architecture which may mimic angiosarcoma. It was originally described in the kidney but rare cases have been reported in other sites. | MONDO:0002407 | +| MONDO:0853956 | acute megakaryoblastic leukemia with cbfa2t3-glis2 | NCIT:C132109 | MONDO:equivalentTo | Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2 | A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with CBFA2T3-GLIS2 chimeric oncogene and has an unfavorable prognosis. | MONDO:0004996 | +| MONDO:0853959 | small intestinal myeloid sarcoma | NCIT:C132260 | MONDO:equivalentTo | Small Intestinal Myeloid Sarcoma | An extramedullary myeloid tumor that arises from the small intestine. It often presents with abdominal pain and obstruction. | MONDO:0000956|MONDO:0006861 | +| MONDO:0853961 | atypical pituitary neuroendocrine tumor | NCIT:C132296 | MONDO:equivalentTo | Atypical Pituitary Neuroendocrine Tumor | A usually aggressive and invasive pituitary neuroendocrine tumor characterized by excessive p53 immunoreactivity, increased mitotic activity, and MIB-1 proliferative index greater than 3%. | MONDO:0006373 | +| MONDO:0853963 | lip and oral cavity cancer by ajcc v8 stage | NCIT:C132728 | MONDO:equivalentTo | Lip and Oral Cavity Cancer by AJCC v8 Stage | A term that refers to the staging of lip and oral cavity carcinoma according to the American Joint Committee on Cancer, 8th edition. | MONDO:0023644 | +| MONDO:0853964 | lip and oral cavity cancer by ajcc v6 and v7 stage | NCIT:C132736 | MONDO:equivalentTo | Lip and Oral Cavity Cancer by AJCC v6 and v7 Stage | A term that refers to the staging of lip and oral cavity carcinoma according to the American Joint Committee on Cancer, 6th and 7th editions. | MONDO:0023644 | +| MONDO:0853965 | major salivary gland cancer by ajcc v7 stage | NCIT:C132778 | MONDO:equivalentTo | Major Salivary Gland Cancer by AJCC v7 Stage | A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0006284 | +| MONDO:0853966 | major salivary gland cancer by ajcc v8 stage | NCIT:C132779 | MONDO:equivalentTo | Major Salivary Gland Cancer by AJCC v8 Stage | A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 8th edition. | MONDO:0006284 | +| MONDO:0853968 | pharyngeal carcinoma by ajcc v8 stage | NCIT:C132814 | MONDO:equivalentTo | Pharyngeal Carcinoma by AJCC v8 Stage | A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition. | MONDO:0021345 | +| MONDO:0853973 | metastatic malignant germ cell tumor | NCIT:C132854 | MONDO:equivalentTo | Metastatic Malignant Germ Cell Tumor | A malignant germ cell tumor that has spread from its original site of growth to another anatomic site. | MONDO:0024880|MONDO:0006290 | +| MONDO:0853979 | sinonasal cancer by ajcc v8 stage | NCIT:C133074 | MONDO:equivalentTo | Sinonasal Cancer by AJCC v8 Stage | A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 8th edition. | MONDO:0056819 | +| MONDO:0853980 | lung adenofibroma | NCIT:C133091 | MONDO:equivalentTo | Lung Adenofibroma | A very rare benign neoplasm that arises from the lung. It is characterized by the presence of a stromal and an epithelial component. It resembles the adenofibromas that arise from the organs of the female reproductive system. | MONDO:0021043|MONDO:0002732 | +| MONDO:0853981 | laryngeal cancer by ajcc v8 stage | NCIT:C133156 | MONDO:equivalentTo | Laryngeal Cancer by AJCC v8 Stage | A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 8th edition. | MONDO:0002358 | +| MONDO:0853984 | cutaneous squamous cell carcinoma of the head and neck | NCIT:C133252 | MONDO:equivalentTo | Cutaneous Squamous Cell Carcinoma of the Head and Neck | A squamous cell carcinoma that arises from the skin of the head and neck. | MONDO:0010150|MONDO:0002529 | +| MONDO:0853986 | esophageal cancer by ajcc v8 stage | NCIT:C133399 | MONDO:equivalentTo | Esophageal Cancer by AJCC v8 Stage | A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 8th edition. | MONDO:0019086 | +| MONDO:0853991 | gastroesophageal junction adenocarcinoma by ajcc v8 stage | NCIT:C133548 | MONDO:equivalentTo | Gastroesophageal Junction Adenocarcinoma by AJCC v8 Stage | A term that refers to the staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition. | MONDO:0003219 | +| MONDO:0853993 | gastric cancer by ajcc v8 stage | NCIT:C133638 | MONDO:equivalentTo | Gastric Cancer by AJCC v8 Stage | A term that refers to the staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition. | MONDO:0004950 | +| MONDO:0853994 | small intestinal cancer by ajcc v7 stage | NCIT:C133716 | MONDO:equivalentTo | Small Intestinal Cancer by AJCC v7 Stage | A term that refers to the staging of small intestinal cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0005522 | +| MONDO:0853996 | appendix carcinoma by ajcc v7 stage | NCIT:C133733 | MONDO:equivalentTo | Appendix Carcinoma by AJCC v7 Stage | A term that refers to the staging of appendiceal carcinoma according to the American Joint Committee on Cancer, 7th edition. Carcinoid tumors are staged separately. (from AJCC 7th Ed.) | MONDO:0003196 | +| MONDO:0853997 | anal canal cancer by ajcc v6 and v7 stage | NCIT:C133787 | MONDO:equivalentTo | Anal Canal Cancer by AJCC v6 and v7 Stage | A term that refers to the staging of anal canal cancer according to the American Joint Committee on Cancer, 6th and 7th editions. This staging system applies to carcinomas arising in the anal canal only; melanomas, carcinoid tumors, sarcomas, and perianal tumors are not included. (from AJCC 6th and 7th Eds.) | MONDO:0007108 | +| MONDO:0853998 | anal cancer by ajcc v8 stage | NCIT:C133794 | MONDO:equivalentTo | Anal Cancer by AJCC v8 Stage | A term that refers to the staging of anal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas arising in the anal canal, including carcinomas that arise within anorectal fistulas and those arising in the perianal area (anal margin). High-grade neuroendocrine carcinomas (small cell neuroendocrine carcinoma and large cell neuroendocrine carcinoma) are staged using this system. There is no AJCC staging system for anal mucosal melanomas and anal well-differentiated neuroendocrine tumors. (from AJCC 8th Ed.) | MONDO:0003199 | +| MONDO:0854000 | small intestinal adenocarcinoma by ajcc v8 stage | NCIT:C133893 | MONDO:equivalentTo | Small Intestinal Adenocarcinoma by AJCC v8 Stage | A term that refers to the staging of small intestinal adenocarcinoma according to the American Joint Committee on Cancer, 8th edition. Nonadenocarcinomas arising in the small intestine should have a TNM assigned but are not assigned a stage classification. (from AJCC 8th Ed.) | MONDO:0003198 | +| MONDO:0854002 | appendix carcinoma by ajcc v8 stage | NCIT:C134117 | MONDO:equivalentTo | Appendix Carcinoma by AJCC v8 Stage | A term that refers to the staging of appendiceal carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas of the appendix, including high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and goblet cell carcinoids. Well-differentiated neuroendocrine tumors (carcinoids) are staged according to the classification for neuroendocrine tumors of the appendix. (from AJCC 8th Ed.) | MONDO:0003196 | +| MONDO:0854009 | colorectal cancer by ajcc v8 stage | NCIT:C134180 | MONDO:equivalentTo | Colorectal Cancer by AJCC v8 Stage | A term that refers to the staging of colorectal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas, high-grade neuroendocrine carcinomas, and squamous cell carcinomas of the colon and rectum. Appendiceal carcinomas, anal carcinomas, and well-differentiated neuroendocrine tumors (carcinoids) are not covered by this staging system. (from AJCC 8th Ed.) | MONDO:0024331 | +| MONDO:0854013 | intrahepatic cholangiocarcinoma by ajcc v7 stage | NCIT:C134514 | MONDO:equivalentTo | Intrahepatic Cholangiocarcinoma by AJCC v7 Stage | A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0003210 | +| MONDO:0854014 | hepatocellular carcinoma by ajcc v8 stage | NCIT:C134515 | MONDO:equivalentTo | Hepatocellular Carcinoma by AJCC v8 Stage | A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to hepatocellular carcinomas and fibrolamellar carcinomas (fibrolamellar variant of hepatocellular carcinoma). Intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas, and sarcomas of the liver are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0007256 | +| MONDO:0854017 | intrahepatic bile duct cancer by ajcc v8 stage | NCIT:C134604 | MONDO:equivalentTo | Intrahepatic Bile Duct Cancer by AJCC v8 Stage | A term that refers to the staging of intrahepatic bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas (mixed hepatocholangiocarcinomas), and primary neuroendocrine tumors of the liver. Primary sarcomas of the liver, pure hepatocellular carcinomas, hilar cholangiocarcinomas, and gallbladder carcinomas are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0018531 | +| MONDO:0854018 | gallbladder cancer by ajcc v8 stage | NCIT:C134660 | MONDO:equivalentTo | Gallbladder Cancer by AJCC v8 Stage | A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to gallbladder carcinomas. Well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0003220 | +| MONDO:0854019 | hilar cholangiocarcinoma by ajcc v7 stage | NCIT:C134742 | MONDO:equivalentTo | Hilar Cholangiocarcinoma by AJCC v7 Stage | A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0003345 | +| MONDO:0854020 | hilar cholangiocarcinoma by ajcc v8 stage | NCIT:C134743 | MONDO:equivalentTo | Hilar Cholangiocarcinoma by AJCC v8 Stage | A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0003345 | +| MONDO:0854022 | distal bile duct cancer by ajcc v7 stage | NCIT:C134810 | MONDO:equivalentTo | Distal Bile Duct Cancer by AJCC v7 Stage | A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0003707 | +| MONDO:0854023 | distal bile duct cancer by ajcc v8 stage | NCIT:C134811 | MONDO:equivalentTo | Distal Bile Duct Cancer by AJCC v8 Stage | A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0003707 | +| MONDO:0854024 | ampulla of vater cancer by ajcc v7 stage | NCIT:C134863 | MONDO:equivalentTo | Ampulla of Vater Cancer by AJCC v7 Stage | A term that refers to the staging of ampulla of Vater cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0017590 | +| MONDO:0854025 | ampulla of vater cancer by ajcc v8 stage | NCIT:C134864 | MONDO:equivalentTo | Ampulla of Vater Cancer by AJCC v8 Stage | A term that refers to the staging of ampulla of Vater cancer according to the American Joint Committee on Cancer, 8th edition. This staging system does not apply to well-differentiated neuroendocrine (carcinoid) tumors but does apply to high-grade neuroendocrine carcinomas, such as small cell carcinoma and large cell neuroendocrine carcinoma. (from AJCC 8th Ed.) | MONDO:0017590 | +| MONDO:0854026 | pancreatic cancer by ajcc v6 and v7 stage | NCIT:C134902 | MONDO:equivalentTo | Pancreatic Cancer by AJCC v6 and v7 Stage | A term that refers to the staging of exocrine and endocrine pancreatic cancer including well-differentiated neuroendocrine tumors according to the American Joint Committee on Cancer, 6th and 7th editions. | MONDO:0005192 | +| MONDO:0854027 | pancreatic cancer by ajcc v8 stage | NCIT:C134909 | MONDO:equivalentTo | Pancreatic Cancer by AJCC v8 Stage | A term that refers to the staging of exocrine pancreatic cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to pancreatic ductal adenocarcinoma, acinar cell carcinoma, intraductal papillary mucinous neoplasm with associated invasive carcinoma, intraductal tubulopapillary neoplasm with associated invasive carcinoma, colloid carcinoma, mucinous cystic neoplasm with associated invasive carcinoma, solid pseudopapillary neoplasm, large cell neuroendocrine carcinoma, small cell neuroendocrine carcinoma, and pancreatoblastoma. Well-differentiated neuroendocrine tumors are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0005192 | +| MONDO:0854029 | lung non-squamous non-small cell carcinoma | NCIT:C135017 | MONDO:equivalentTo | Lung Non-Squamous Non-Small Cell Carcinoma | A non-small cell lung carcinoma without evidence of squamous differentiation. | MONDO:0005233 | +| MONDO:0854030 | gastric neuroendocrine tumor by ajcc v8 stage | NCIT:C135045 | MONDO:equivalentTo | Gastric Neuroendocrine Tumor by AJCC v8 Stage | A term that refers to the staging of a gastric neuroendocrine tumor according to the American Joint Committee on Cancer, 8th edition. This staging system applies to gastric "carcinoid" tumors (NET G1 and G2, and rare well-differentiated G3). Gastric high-grade neuroendocrine carcinoma and gastric mixed adenoneuroendocrine carcinoma are not included in this staging system. (from AJCC 8th Ed.) | MONDO:0015062 | +| MONDO:0854031 | duodenal neuroendocrine tumor by ajcc v8 stage | NCIT:C135075 | MONDO:equivalentTo | Duodenal Neuroendocrine Tumor by AJCC v8 Stage | A term that refers to the staging of a duodenal neuroendocrine tumor according to the American Joint Committee on Cancer, 8th edition. This staging system applies to well-differentiated neuroendocrine tumors of the duodenum. Carcinomas of the duodenum, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not included in this staging system. (from AJCC 8th Ed.) | MONDO:0015063 | +| MONDO:0854032 | jejunal neuroendocrine tumor by ajcc v8 stage | NCIT:C135119 | MONDO:equivalentTo | Jejunal Neuroendocrine Tumor by AJCC v8 Stage | A term that refers to the staging of a jejunal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to small bowel "carcinoid" tumors (NET G1 and G2, and rare well-differentiated G3) arising in the jejunum. This classification system does not apply to high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and neuroendocrine tumors of the duodenum. (from AJCC 8th Ed.) | MONDO:0015064 | +| MONDO:0854033 | ileal neuroendocrine tumor by ajcc v8 stage | NCIT:C135124 | MONDO:equivalentTo | Ileal Neuroendocrine Tumor by AJCC v8 Stage | A term that refers to the staging of an ileal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to small bowel "carcinoid" tumors (NET G1 and G2, and rare well-differentiated G3) arising in the ileum. This classification system does not apply to high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and neuroendocrine tumors of the duodenum. (from AJCC 8th Ed.) | MONDO:0015065 | +| MONDO:0854034 | digestive system neuroendocrine tumor by ajcc v7 stage | NCIT:C135129 | MONDO:equivalentTo | Digestive System Neuroendocrine Tumor by AJCC v7 Stage | A term that refers to the staging of a digestive system neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system. | MONDO:0000386 | +| MONDO:0854036 | appendix neuroendocrine tumor by ajcc v8 stage | NCIT:C135156 | MONDO:equivalentTo | Appendix Neuroendocrine Tumor by AJCC v8 Stage | A term that refers to the staging of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to appendiceal NETs (carcinoid tumors) (NET G1 and G2, and rare well-differentiated G3). High-grade neuroendocrine carcinomas (NEC), goblet cell carcinoids, mixed adenocarcinomas, and adenocarcinomas of the appendix are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0015066 | +| MONDO:0854042 | pancreatic neuroendocrine tumor by ajcc v8 stage | NCIT:C135560 | MONDO:equivalentTo | Pancreatic Neuroendocrine Tumor by AJCC v8 Stage | A term that refers to the staging of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to well-differentiated neuroendocrine tumors arising in the pancreas. Carcinomas of the pancreas, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0019954 | +| MONDO:0854043 | thymic epithelial neoplasm by ajcc v8 stage | NCIT:C136320 | MONDO:equivalentTo | Thymic Epithelial Neoplasm by AJCC v8 Stage | A term that refers to the staging of a thymic epithelial neoplasm, following the rules of the TNM AJCC v8 classification system. This staging system applies to thymomas, thymic carcinomas, thymic neuroendocrine tumors, and combined thymic carcinomas. (from AJCC 8th Ed.) | MONDO:0018079 | +| MONDO:0854045 | pleural malignant mesothelioma by ajcc v7 stage | NCIT:C136374 | MONDO:equivalentTo | Pleural Malignant Mesothelioma by AJCC v7 Stage | A term that refers to the staging of pleural malignant mesothelioma, following the rules of the TNM AJCC v7 classification system. | MONDO:0005112 | +| MONDO:0854046 | pleural malignant mesothelioma by ajcc v8 stage | NCIT:C136399 | MONDO:equivalentTo | Pleural Malignant Mesothelioma by AJCC v8 Stage | A term that refers to the staging of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system. This staging system applies to pleural diffuse malignant mesothelioma only. Localized pleural malignant mesotheliomas and other primary tumors of the pleura are not staged using this staging system. (from AJCC 8th Ed.) | MONDO:0005112 | +| MONDO:0854048 | lung cancer by ajcc v8 stage | NCIT:C136467 | MONDO:equivalentTo | Lung Cancer by AJCC v8 Stage | A term that refers to the staging of lung cancer, following the rules of the TNM AJCC v8 classification system. This staging system derives from analyses of the new retrospective and prospective databases of the International Association for the Study of Lung Cancer (IASLC). These databases contain information on patients diagnosed with lung cancer from 1999 to 2010 originating from 35 different databases in 16 countries around the world. This staging system applies to carcinomas of the lung, including non-small cell and small cell carcinomas, and bronchopulmonary carcinoid tumors. It does not apply to sarcomas or other rare tumors of the lung. (from AJCC 8th Ed.) | MONDO:0005138 | +| MONDO:0854057 | bone cancer by ajcc v7 stage | NCIT:C136610 | MONDO:equivalentTo | Bone Cancer by AJCC v7 Stage | A term that refers to the staging of bone cancer, following the rules of the TNM AJCC v7 classification system. | MONDO:0002129 | +| MONDO:0854058 | bone cancer by ajcc v8 stage | NCIT:C136612 | MONDO:equivalentTo | Bone Cancer by AJCC v8 Stage | A term that refers to the staging of appendicular skeleton, trunk, skull, and facial bones cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to osteosarcoma, chondrosarcoma, Ewing sarcoma, spindle cell sarcoma, hemangioendothelioma, angiosarcoma, fibrosarcoma/myofibroid sarcoma, chordoma, adamantinoma, and other cancers arising in the bone. It does not apply to primary malignant lymphoma of the bone and multiple myeloma. There are no AJCC prognostic stage groupings for spine and pelvis. (from AJCC 8th Ed.) | MONDO:0002129 | +| MONDO:0854060 | soft tissue sarcoma by ajcc v8 stage | NCIT:C136693 | MONDO:equivalentTo | Soft Tissue Sarcoma by AJCC v8 Stage | A term that refers to the staging of soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system. | MONDO:0018078 | +| MONDO:0854061 | soft tissue sarcoma by ajcc v7 stage | NCIT:C136707 | MONDO:equivalentTo | Soft Tissue Sarcoma by AJCC v7 Stage | A term that refers to the staging of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0018078 | +| MONDO:0854062 | uterine corpus sarcoma by ajcc v7 stage | NCIT:C136708 | MONDO:equivalentTo | Uterine Corpus Sarcoma by AJCC v7 Stage | A term that refers to the staging of uterine corpus sarcoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0005210 | +| MONDO:0854063 | invasive lung mucinous adenocarcinoma | NCIT:C136709 | MONDO:equivalentTo | Invasive Lung Mucinous Adenocarcinoma | An invasive adenocarcinoma that arises from the lung. It is characterized by the presence of tall columnar cells and mucin production. This category refers to cases formerly classified as mucinous bronchioloalveolar carcinoma, excluding cases that meet the criteria for adenocarcinoma in situ or mucinous minimally invasive adenocarcinoma. | MONDO:0040677|MONDO:0005061|MONDO:0004957 | +| MONDO:0854064 | lung enteric adenocarcinoma | NCIT:C136710 | MONDO:equivalentTo | Lung Enteric Adenocarcinoma | A well-differentiated adenocarcinoma located in the lung periphery. It resembles colorectal adenocarcinoma with acinar and/or cribriform architecture and papillotubular structures. | MONDO:0006254|MONDO:0005061 | +| MONDO:0854065 | lung keratinizing squamous cell carcinoma | NCIT:C136713 | MONDO:equivalentTo | Lung Keratinizing Squamous Cell Carcinoma | A squamous cell lung carcinoma characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. | MONDO:0005097 | +| MONDO:0854066 | lung non-keratinizing squamous cell carcinoma | NCIT:C136714 | MONDO:equivalentTo | Lung Non-Keratinizing Squamous Cell Carcinoma | A squamous cell lung carcinoma characterized by the absence of keratinization, pearl formation, and intercellular bridges. | MONDO:0005097 | +| MONDO:0854067 | lung non-mucinous adenocarcinoma in situ | NCIT:C136716 | MONDO:equivalentTo | Lung Non-Mucinous Adenocarcinoma In Situ | Lung adenocarcinoma in situ characterized by the presence of type II pneumocyte and/or Clara cell differentiation. Almost all cases of lung adenocarcinoma in situ are non-mucinous. | MONDO:0000503 | +| MONDO:0854068 | lung mucinous adenocarcinoma in situ | NCIT:C136717 | MONDO:equivalentTo | Lung Mucinous Adenocarcinoma In Situ | A very rare lung adenocarcinoma in situ variant characterized by the presence of tall columnar cells with basal nuclei and abundant cytoplasmic mucin. | MONDO:0000503 | +| MONDO:0854069 | lung squamous cell carcinoma in situ | NCIT:C136719 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma In Situ | A preinvasive bronchial neoplastic lesion affecting the squamous epithelium. It is characterized by the absence of progression of maturation from base to luminal surface, basilar zone expansion with cellular crowding throughout the epithelium, absence of the intermediate zone, and surface flattening confined to the most superficial cells. The nuclear-to-cytoplasmic ratio is often high and variable, the chromatin is coarse and uneven, and mitotic figures are present through full thickness. The cell size may be markedly increased. Anisocytosis and pleomorphism may be present. (Adapted from WHO, 2015) | MONDO:0005097|MONDO:0004693 | +| MONDO:0854075 | cutaneous melanoma by ajcc v8 stage | NCIT:C137645 | MONDO:equivalentTo | Cutaneous Melanoma by AJCC v8 Stage | A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system. This staging system does not apply to melanoma of the conjunctiva, melanoma of the uvea, mucosal melanoma arising in the head and neck, and mucosal melanoma of the urethra, vagina, rectum, and anus. (from AJCC 8th Ed.) | MONDO:0005012 | +| MONDO:0854076 | occult breast carcinoma | NCIT:C137674 | MONDO:equivalentTo | Occult Breast Carcinoma | Breast carcinoma presenting with isolated axillary lymphadenopathy, without clinical or mammographic evidence of breast tumor. | MONDO:0004989 | +| MONDO:0854077 | breast pleomorphic lobular carcinoma in situ | NCIT:C137839 | MONDO:equivalentTo | Breast Pleomorphic Lobular Carcinoma In Situ | Breast lobular carcinoma in situ characterized by the presence of neoplastic large cells with marked nuclear pleomorphism. | MONDO:0006270 | +| MONDO:0854089 | prostate carcinoma by gene expression profile | NCIT:C138167 | MONDO:equivalentTo | Prostate Carcinoma by Gene Expression Profile | A header term that includes the following prostate carcinoma subtypes determined by gene expression profiling: luminal A prostate carcinoma, luminal B prostate carcinoma, and basal-like prostate carcinoma. | MONDO:0005159 | +| MONDO:0854090 | duodenal-type follicular lymphoma | NCIT:C138185 | MONDO:equivalentTo | Duodenal-Type Follicular Lymphoma | A localized low-grade follicular lymphoma within the gastrointestinal tract, which is distinct from other gastrointestinal tract follicular lymphomas. It has features that overlap with in situ follicular neoplasia as well as some features resembling an extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue. The prognosis is excellent. | MONDO:0018906 | +| MONDO:0854092 | high grade b-cell lymphoma with myc and bcl2 and/or bcl6 rearrangements | NCIT:C138195 | MONDO:equivalentTo | High Grade B-Cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements | High-grade B-cell lymphoma characterized by the abnormal rearrangement of MYC gene, BCL2 gene, and/or BCL6 gene. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis. | MONDO:0044889 | +| MONDO:0854094 | double-expressor lymphoma | NCIT:C138899 | MONDO:equivalentTo | Double-Expressor Lymphoma | A diffuse large B-cell lymphoma characterized by double expression of MYC and BCL2 proteins without MYC and BCL2 gene aberrations. These lymphomas may have a worse prognosis than other diffuse large B-cell lymphomas, not otherwise specified, but they are not as aggressive as the high-grade B-cell lymphomas, with rearrangements of MYC and BCL2 and/or BCL6 genes. | MONDO:0018905 | +| MONDO:0854097 | follicular helper t-cell lymphoma | NCIT:C139005 | MONDO:equivalentTo | Follicular Helper T-Cell Lymphoma | A group of node-based peripheral T-cell lymphomas with phenotypic features of T follicular helper (TFH) cells. This category includes the following: follicular helper T-cell lymphoma, angioimmunoblastic-type; follicular helper T-cell lymphoma, follicular-type; and follicular helper T-cell lymphoma, not otherwise specified. | MONDO:0000430 | +| MONDO:0854098 | multiple myeloma myeloma by ds stage | NCIT:C139008 | MONDO:equivalentTo | Multiple Myeloma Myeloma by DS Stage | A header term that refers to the staging of multiple myeloma according to the Durie/Salmon staging system. | MONDO:0009693 | +| MONDO:0854099 | multiple myeloma by iss stage | NCIT:C139009 | MONDO:equivalentTo | Multiple Myeloma by ISS Stage | A header term that refers to the staging of multiple myeloma according to the International Staging System. | MONDO:0009693 | +| MONDO:0854100 | type d lymphomatoid papulosis | NCIT:C139014 | MONDO:equivalentTo | Type D Lymphomatoid Papulosis | A variant of lymphomatoid papulosis which mimics primary cutaneous aggressive epidermotropic CD8-positive cytotoxic T-cell lymphoma. | MONDO:0020326 | +| MONDO:0854101 | type e lymphomatoid papulosis | NCIT:C139015 | MONDO:equivalentTo | Type E Lymphomatoid Papulosis | A variant of lymphomatoid papulosis characterized by the presence of atypical lymphocytes which exhibited distinct angioinvasion. | MONDO:0020326 | +| MONDO:0854102 | lymphomatoid papulosis with dusp22-irf4 gene rearrangement | NCIT:C139017 | MONDO:equivalentTo | Lymphomatoid Papulosis with DUSP22-IRF4 Gene Rearrangement | A variant of lymphomatoid papulosis associated with chromosomal rearrangements involving the DUSP22-IRF4 locus at 6p25.3. | MONDO:0020326 | +| MONDO:0854105 | breast cancer by ajcc v8 stage | NCIT:C139532 | MONDO:equivalentTo | Breast Cancer by AJCC v8 Stage | A term that refers to the staging of breast cancer, following the rules of the TNM AJCC v8 classification system. It applies to invasive (infiltrating) carcinoma of the breast and ductal carcinoma in situ of the breast. It does not apply to breast sarcoma, phyllodes tumor, and breast lymphoma. (from AJCC 8th Ed.) | MONDO:0004989 | +| MONDO:0854108 | fibroadenoma of anogenital mammary-type glands | NCIT:C139547 | MONDO:equivalentTo | Fibroadenoma of Anogenital Mammary-Type Glands | A benign epithelial-stromal neoplasm that arises from the perineum and resembles the breast fibroadenoma. | MONDO:0000383|MONDO:0021045 | +| MONDO:0854109 | vulvar composite hidradenoma papilliferum and fibroadenoma | NCIT:C139548 | MONDO:equivalentTo | Vulvar Composite Hidradenoma Papilliferum and Fibroadenoma | A benign composite neoplasm that arises from the vulva and is characterized by mixed histopathologic features of hidradenoma papilliferum and fibroadenoma. | MONDO:0021043|MONDO:0000643 | +| MONDO:0854111 | vulvar cancer by ajcc v8 stage | NCIT:C139618 | MONDO:equivalentTo | Vulvar Cancer by AJCC v8 Stage | A term that refers to the staging of vulvar cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vulva. Melanoma of the vulva is staged according to the classification for melanoma of the skin. (AJCC 8th Ed.) | MONDO:0005215 | +| MONDO:0854112 | vaginal cancer by ajcc v8 stage | NCIT:C139657 | MONDO:equivalentTo | Vaginal Cancer by AJCC v8 Stage | A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.) | MONDO:0015867 | +| MONDO:0854113 | cervical cancer by ajcc v8 stage | NCIT:C139733 | MONDO:equivalentTo | Cervical Cancer by AJCC v8 Stage | A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 8th edition. | MONDO:0005131 | +| MONDO:0854114 | uterine corpus cancer by ajcc v8 stage | NCIT:C139801 | MONDO:equivalentTo | Uterine Corpus Cancer by AJCC v8 Stage | A term that refers to the staging of uterine corpus cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas and carcinosarcomas. It does not apply to uterine corpus sarcomas: leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas. These sarcomas are staged according to the classification for uterine corpus sarcomas. (from AJCC 8th Ed.) | MONDO:0006003 | +| MONDO:0854115 | uterine corpus sarcoma by ajcc v8 stage | NCIT:C139869 | MONDO:equivalentTo | Uterine Corpus Sarcoma by AJCC v8 Stage | A term that refers to the staging of uterine corpus sarcoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas of the uterine corpus. It does not apply to carcinosarcomas which are staged according to the carcinomas and carcinosarcomas of the uterine corpus. (from AJCC 8th Ed.) | MONDO:0005210 | +| MONDO:0854119 | ovarian cancer by ajcc v8 stage | NCIT:C139963 | MONDO:equivalentTo | Ovarian Cancer by AJCC v8 Stage | A term that refers to the staging of ovarian cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to ovarian carcinomas. Nonepithelial primary ovarian cancers may be staged using this classification but should be reported separately. (from AJCC 8th Ed.) | MONDO:0005140 | +| MONDO:0854120 | fallopian tube cancer by ajcc v8 stage | NCIT:C139983 | MONDO:equivalentTo | Fallopian Tube Cancer by AJCC v8 Stage | A term that refers to the staging of fallopian tube cancer according to the American Joint Committee on Cancer, 8th edition. | MONDO:0006206 | +| MONDO:0854121 | primary peritoneal cancer by ajcc v7 stage | NCIT:C140003 | MONDO:equivalentTo | Primary Peritoneal Cancer by AJCC v7 Stage | A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0015686 | +| MONDO:0854122 | primary peritoneal cancer by ajcc v8 stage | NCIT:C140004 | MONDO:equivalentTo | Primary Peritoneal Cancer by AJCC v8 Stage | A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 8th edition. | MONDO:0015686 | +| MONDO:0854123 | gestational trophoblastic tumor by ajcc v7 stage | NCIT:C140032 | MONDO:equivalentTo | Gestational Trophoblastic Tumor by AJCC v7 Stage | A term that refers to the staging of gestational trophoblastic tumor according to the American Joint Committee on Cancer, 7th edition. | MONDO:0018944 | +| MONDO:0854124 | penile cancer by ajcc v8 stage | NCIT:C140075 | MONDO:equivalentTo | Penile Cancer by AJCC v8 Stage | A term that refers to the staging of penile cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to penile squamous cell carcinoma and associated histologic subtypes. It does not apply to urethral carcinomas, sarcomas, and melanomas. (from AJCC 8th Ed.) | MONDO:0006360 | +| MONDO:0854125 | prostate cancer by ajcc v8 stage | NCIT:C140163 | MONDO:equivalentTo | Prostate Cancer by AJCC v8 Stage | A term that refers to the staging of prostate cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas and squamous cell carcinomas of the prostate gland. It does not apply to sarcomas, urothelial cell carcinomas, and urothelial carcinoma of bladder involving prostate. (from AJCC 8th Ed.) | MONDO:0005159 | +| MONDO:0854126 | testicular cancer by ajcc v8 stage | NCIT:C140225 | MONDO:equivalentTo | Testicular Cancer by AJCC v8 Stage | A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to postpubertal germ cell tumors of the testis and malignant sex cord-stromal tumors of the testis. It does not apply to spermatocytic tumors (no AJCC staging system), nonmalignant sex cord-/gonadal -stromal tumors (no AJCC staging system), prepubertal germ cell tumors (no AJCC staging system), hematolymphoid tumors (hematologic malignancies staging system), and paratesticular neoplasms (no AJCC staging system). (from AJCC 8th Ed.) | MONDO:0005447 | +| MONDO:0854127 | testicular cancer by ajcc v6 and v7 stage | NCIT:C140241 | MONDO:equivalentTo | Testicular Cancer by AJCC v6 and v7 Stage | A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions. | MONDO:0005447 | +| MONDO:0854128 | renal cell cancer by ajcc v8 stage | NCIT:C140322 | MONDO:equivalentTo | Renal Cell Cancer by AJCC v8 Stage | A term that refers to the staging of kidney cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas arising in the kidney. It does not apply to urothelial carcinomas (are staged according to the classification for renal pelvis and ureter), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs), and Wilms tumor (no AJCC staging system). (from AJCC 8th Ed.) | MONDO:0005549 | +| MONDO:0854130 | renal pelvis and ureter cancer by ajcc v8 stage | NCIT:C140355 | MONDO:equivalentTo | Renal Pelvis and Ureter Cancer by AJCC v8 Stage | A term that refers to the staging of renal pelvis and ureter cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to renal pelvis and ureter urothelial (transitional cell) carcinoma, including histologic variants micropapillary and nested subtypes. It does not apply to renal cell carcinomas (are staged according to the classification for kidney), renal medullary carcinomas (are staged according to the classification for kidney), collecting duct carcinomas (are staged according to the classification for kidney), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and mesenchymal tumors (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.) | MONDO:0020654 | +| MONDO:0854134 | renal pelvis and ureter cancer by ajcc v7 stage | NCIT:C140376 | MONDO:equivalentTo | Renal Pelvis and Ureter Cancer by AJCC v7 Stage | A term that refers to the staging of renal pelvis and ureter cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0020654 | +| MONDO:0854137 | bladder cancer by ajcc v8 stage | NCIT:C140416 | MONDO:equivalentTo | Bladder Cancer by AJCC v8 Stage | A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas arising in the bladder. The typical carcinoma of the bladder is urothelial carcinoma. These carcinomas may include other histologic elements, including adenocarcinoma, squamous cell carcinoma, and small cell neuroendocrine carcinoma, but should be classified as urothelial unless the cancer is composed entirely of the alternative histology. All histologic cell types that are derived primarily from the urinary bladder epithelium should follow this staging system. It does not apply to prostatic urothelial carcinomas (are staged according to the classification for urethra), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.) | MONDO:0004986 | +| MONDO:0854139 | urethral cancer by ajcc v8 stage | NCIT:C140457 | MONDO:equivalentTo | Urethral Cancer by AJCC v8 Stage | A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to urothelial (transitional cell), squamous, and glandular carcinomas of the urethra and to urothelial (transitional cell) carcinomas of the prostate and prostatic urethra. It does not apply to squamous cell carcinomas of the penile foreskin (are staged according to the classification for penis), primary urothelial carcinomas of the bladder with transmural involvement of the prostate (are staged according to the classification for urinary bladder), prostatic adenocarcinomas (are staged according to the classification for prostate), mucosal melanomas of the urethra (no AJCC staging system), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.) | MONDO:0021327 | +| MONDO:0854141 | urethral cancer by ajcc v7 stage | NCIT:C140464 | MONDO:equivalentTo | Urethral Cancer by AJCC v7 Stage | A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0021327 | +| MONDO:0854142 | eyelid carcinoma by ajcc v7 stage | NCIT:C140511 | MONDO:equivalentTo | Eyelid Carcinoma by AJCC v7 Stage | A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0003876 | +| MONDO:0854143 | eyelid carcinoma by ajcc v8 stage | NCIT:C140513 | MONDO:equivalentTo | Eyelid Carcinoma by AJCC v8 Stage | A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin). (from AJCC 8th Ed.) | MONDO:0003876 | +| MONDO:0854144 | choroidal and ciliary body melanoma by ajcc v8 stage | NCIT:C140659 | MONDO:equivalentTo | Choroidal and Ciliary Body Melanoma by AJCC v8 Stage | A term that refers to the staging of choroidal and ciliary body melanoma, following the rules of the TNM AJCC v8 classification system. | MONDO:0006486 | +| MONDO:0854145 | uveal melanoma by ajcc v7 stage | NCIT:C140672 | MONDO:equivalentTo | Uveal Melanoma by AJCC v7 Stage | A term that refers to the staging of uveal melanoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0006486 | +| MONDO:0854146 | retinoblastoma by ajcc v8 stage | NCIT:C140750 | MONDO:equivalentTo | Retinoblastoma by AJCC v8 Stage | A term that refers to the staging of retinoblastoma according to the American Joint Committee on Cancer, 8th edition. This staging system does not apply to central nervous system component of "trilateral retinoblastoma" (is staged according to the classification for brain and spinal cord), retinoma (or retinocytoma) (no AJCC staging system), and medulloepithelioma (no AJCC staging system). (from AJCC 8th Ed.) | MONDO:0008380 | +| MONDO:0854148 | differentiated thyroid gland carcinoma by ajcc v7 stage | NCIT:C140959 | MONDO:equivalentTo | Differentiated Thyroid Gland Carcinoma by AJCC v7 Stage | A term that refers to the staging of differentiated thyroid gland carcinoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0015447 | +| MONDO:0854150 | differentiated thyroid gland carcinoma by ajcc v8 stage | NCIT:C140965 | MONDO:equivalentTo | Differentiated Thyroid Gland Carcinoma by AJCC v8 Stage | A term that refers to the staging of differentiated thyroid gland carcinoma, following the rules of the TNM AJCC v8 classification system. | MONDO:0015447 | +| MONDO:0854153 | thyroid gland anaplastic carcinoma by ajcc v7 stage | NCIT:C140999 | MONDO:equivalentTo | Thyroid Gland Anaplastic Carcinoma by AJCC v7 Stage | A term that refers to the staging of thyroid gland anaplastic carcinoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0006468 | +| MONDO:0854154 | thyroid gland anaplastic carcinoma by ajcc v8 stage | NCIT:C141000 | MONDO:equivalentTo | Thyroid Gland Anaplastic Carcinoma by AJCC v8 Stage | A term that refers to the staging of thyroid gland anaplastic carcinoma, following the rules of the TNM AJCC v8 classification system. | MONDO:0006468 | +| MONDO:0854155 | thyroid gland medullary carcinoma by ajcc v7 stage | NCIT:C141041 | MONDO:equivalentTo | Thyroid Gland Medullary Carcinoma by AJCC v7 Stage | A term that refers to the staging of thyroid gland medullary carcinoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0015277 | +| MONDO:0854156 | thyroid gland medullary carcinoma by ajcc v8 stage | NCIT:C141042 | MONDO:equivalentTo | Thyroid Gland Medullary Carcinoma by AJCC v8 Stage | A term that refers to the staging of thyroid gland medullary carcinoma, following the rules of the TNM AJCC v8 classification system. Differentiated and anaplastic thyroid gland carcinomas are staged according to the classification for thyroid-differentiated and anaplastic carcinoma. (from AJCC 8th Ed.) | MONDO:0015277 | +| MONDO:0854157 | adrenal cortical carcinoma by ajcc v7 stage | NCIT:C141098 | MONDO:equivalentTo | Adrenal Cortical Carcinoma by AJCC v7 Stage | A term that refers to the staging of adrenal cortical carcinoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0006639 | +| MONDO:0854158 | adrenal cortical carcinoma by ajcc v8 stage | NCIT:C141100 | MONDO:equivalentTo | Adrenal Cortical Carcinoma by AJCC v8 Stage | A term that refers to the staging of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system. Adrenal medullary pheochromocytoma is staged according to the classification for adrenal neuroendocrine tumors. There is no AJCC staging system for neuroblastic tumors of the adrenal gland. (from AJCC 8th Ed.) | MONDO:0006639 | +| MONDO:0854159 | adrenal gland pheochromocytoma and sympathetic paraganglioma by ajcc v8 stage | NCIT:C141128 | MONDO:equivalentTo | Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma by AJCC v8 Stage | A term that refers to the staging of adrenal gland pheochromocytoma and sympathetic paraganglioma, following the rules of the TNM AJCC v8 classification system. Parasympathetic paragangliomas are not staged because they are largely benign. This staging system does not apply to neuroendocrine tumors of the pancreas (are staged according to the classification for neuroendocrine tumors of the pancreas) and carotid body tumors (not staged). (from AJCC 8th Ed.) | MONDO:0021072 | +| MONDO:0854166 | chronic lymphocytic leukemia- modified rai staging system | NCIT:C141206 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia- Modified Rai Staging System | A term that refers to the staging of chronic lymphocytic leukemia according to modified Rai staging system. This system is mainly used in North America. | MONDO:0004948 | +| MONDO:0854167 | chronic lymphocytic leukemia- binet staging system | NCIT:C141208 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia- Binet Staging System | A term that refers to the staging of chronic lymphocytic leukemia according to Binet staging system. This system is in wide use outside the United States. | MONDO:0004948 | +| MONDO:0854189 | multiple myeloma by riss stage | NCIT:C141393 | MONDO:equivalentTo | Multiple Myeloma by RISS Stage | A staging system for multiple myeloma based on the Revised International Staging System (RISS) criteria. This staging system does not apply to smoldering multiple myeloma (no AJCC staging system), monoclonal gammopathy of undetermined significance (no AJCC staging system), and Waldenstrom macroglobulinemia (no AJCC staging system). (from AJCC 8th Ed.) | MONDO:0009693 | +| MONDO:0854192 | thoracic nut carcinoma | NCIT:C142781 | MONDO:equivalentTo | Thoracic NUT Carcinoma | A highly aggressive, poorly differentiated carcinoma that arises from the thoracic structures. It is characterized by mutations and rearrangement of the NUT gene. It usually presents at an advanced stage with pleuritic chest pain and pleural effusion, non-productive cough, shortness of breath, and weigh loss. | MONDO:0005563|MONDO:0003274 | +| MONDO:0854193 | benign lung pecoma | NCIT:C142784 | MONDO:equivalentTo | Benign Lung PEComa | A benign lung tumor that arises from perivascular epithelioid cells (PECs). | MONDO:0002732|MONDO:0020588|MONDO:0020581 | +| MONDO:0854200 | pulmonary artery intimal sarcoma | NCIT:C142825 | MONDO:equivalentTo | Pulmonary Artery Intimal Sarcoma | A sarcoma arising from the arterial intima of pulmonary arteries. | MONDO:0006255|MONDO:0002426 | +| MONDO:0854201 | primary pulmonary myxoid sarcoma with ewsr1-creb1 fusion | NCIT:C142827 | MONDO:equivalentTo | Primary Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Fusion | A sarcoma that arises from the lung. It is related to a bronchus and is often predominantly endobronchial. It is characterized by the proliferation of round and spindle cells within a myxoid stroma. It is associated with the presence of an EWSR1::CREB1 fusion gene. | MONDO:0002426 | +| MONDO:0854212 | refractory rhabdoid tumor | NCIT:C142858 | MONDO:equivalentTo | Refractory Rhabdoid Tumor | Rhabdoid tumor that does not respond to treatment. | MONDO:0002728|MONDO:0036501 | +| MONDO:0854225 | atypical type a thymoma | NCIT:C146640 | MONDO:equivalentTo | Atypical Type A Thymoma | A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis). | MONDO:0002588 | +| MONDO:0854227 | thymic hepatoid adenocarcinoma | NCIT:C146717 | MONDO:equivalentTo | Thymic Hepatoid Adenocarcinoma | A very rare adenocarcinoma arising from the thymus. It is characterized by the presence of malignant polygonal cells resembling hepatocytes. | MONDO:0006243|MONDO:0003209 | +| MONDO:0854229 | malignant mediastinal germ cell tumor stage grouping of the pediatric study group | NCIT:C146848 | MONDO:equivalentTo | Malignant Mediastinal Germ Cell Tumor Stage Grouping of the Pediatric Study Group | A term that refers to the staging of mediastinal malignant germ cell tumors according to the Pediatric Study Group staging criteria. This staging system is not an official UICC TNM classification. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015) | MONDO:0006298 | +| MONDO:0854230 | metastatic epithelioid hemangioendothelioma | NCIT:C146858 | MONDO:equivalentTo | Metastatic Epithelioid Hemangioendothelioma | An epithelioid hemangioendothelioma that has spread from its original site of growth to another anatomic site. | MONDO:0015523|MONDO:0024880 | +| MONDO:0854231 | mediastinal mixed germ cell tumor | NCIT:C146861 | MONDO:equivalentTo | Mediastinal Mixed Germ Cell Tumor | A malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of at least two different germ cell tumor components. The different germ cell tumor components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. | MONDO:0006298|MONDO:0015864|MONDO:0005853 | +| MONDO:0854234 | mediastinal epithelioid hemangioendothelioma | NCIT:C146988 | MONDO:equivalentTo | Mediastinal Epithelioid Hemangioendothelioma | An epithelioid hemangioendothelioma that arises from the mediastinum. | MONDO:0037743|MONDO:0015523 | +| MONDO:0854235 | cardiac extraskeletal osteosarcoma | NCIT:C147003 | MONDO:equivalentTo | Cardiac Extraskeletal Osteosarcoma | An extraskeletal osteosarcoma that arises from the heart. It produces osteoid and bone, and occasionally shows chondroblastic differentiation. | MONDO:0002621|MONDO:0003354 | +| MONDO:0854236 | cardiac myxofibrosarcoma | NCIT:C147004 | MONDO:equivalentTo | Cardiac Myxofibrosarcoma | A low-grade sarcoma that arises from the heart. It is composed of spindle or rounded cells in a myxoid stroma. The most common location is the left atrium. | MONDO:0019202|MONDO:0003742 | +| MONDO:0854237 | cardiac yolk sac tumor | NCIT:C147006 | MONDO:equivalentTo | Cardiac Yolk Sac Tumor | A yolk sac tumor that arises within the myocardium or cardiac chambers. | MONDO:0001991|MONDO:0005744 | +| MONDO:0854242 | pericardial sarcoma | NCIT:C147098 | MONDO:equivalentTo | Pericardial Sarcoma | A rare sarcoma that arises from the pericardium. The two most common types are angiosarcoma and synovial sarcoma. Patients present with symptoms related to pericardial effusion. | MONDO:0018078|MONDO:0001322 | +| MONDO:0854249 | recurrent lymphoproliferative disorder | NCIT:C147861 | MONDO:equivalentTo | Recurrent Lymphoproliferative Disorder | The reemergence of a lymphoproliferative disorder after a period of remission. | | +| MONDO:0854250 | oropharyngeal p16ink4a-negative squamous cell carcinoma | NCIT:C147906 | MONDO:equivalentTo | Oropharyngeal p16INK4a-Negative Squamous Cell Carcinoma | An oropharyngeal squamous cell carcinoma which is negative for p16INK4a by immunohistochemistry. This negative immunohistochemistry result does not exclude human papillomavirus infection. | MONDO:0044704 | +| MONDO:0854251 | central nervous system b-cell non-hodgkin lymphoma | NCIT:C147948 | MONDO:equivalentTo | Central Nervous System B-Cell Non-Hodgkin Lymphoma | A B-cell non-Hodgkin lymphoma that arises from the brain, meninges, or spinal cord. | MONDO:0015759|MONDO:0044887 | +| MONDO:0854253 | refractory melanoma | NCIT:C147983 | MONDO:equivalentTo | Refractory Melanoma | Melanoma that does not respond to treatment. | MONDO:0036501|MONDO:0005105 | +| MONDO:0854268 | refractory round cell liposarcoma | NCIT:C148299 | MONDO:equivalentTo | Refractory Round Cell Liposarcoma | Round cell liposarcoma that does not respond to treatment. | MONDO:0005238 | +| MONDO:0854269 | metastatic round cell liposarcoma | NCIT:C148300 | MONDO:equivalentTo | Metastatic Round Cell Liposarcoma | Round cell liposarcoma that has spread to other anatomic sites. | MONDO:0005238 | +| MONDO:0854270 | refractory sarcoma | NCIT:C148301 | MONDO:equivalentTo | Refractory Sarcoma | A sarcoma that does not respond to treatment. | MONDO:0036501|MONDO:0005089 | +| MONDO:0854284 | refractory leukemia | NCIT:C148426 | MONDO:equivalentTo | Refractory Leukemia | Leukemia that is resistant to treatment. | MONDO:0005059|MONDO:0004111 | +| MONDO:0854293 | castration-naive prostate carcinoma | NCIT:C148536 | MONDO:equivalentTo | Castration-Naive Prostate Carcinoma | Advanced prostatic carcinoma which was not previously treated with androgen-deprivation therapy. | MONDO:0004956 | +| MONDO:0854294 | thoracic esophagus adenocarcinoma | NCIT:C150027 | MONDO:equivalentTo | Thoracic Esophagus Adenocarcinoma | An adenocarcinoma that arises from the thoracic esophagus. | MONDO:0005028|MONDO:0021325 | +| MONDO:0854295 | thoracic esophagus squamous cell carcinoma | NCIT:C150029 | MONDO:equivalentTo | Thoracic Esophagus Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the thoracic esophagus. | MONDO:0005580|MONDO:0021325 | +| MONDO:0854296 | cervical esophagus adenocarcinoma | NCIT:C150031 | MONDO:equivalentTo | Cervical Esophagus Adenocarcinoma | An adenocarcinoma that arises from the cervical esophagus. | MONDO:0021326|MONDO:0005028 | +| MONDO:0854297 | cervical esophagus squamous cell carcinoma | NCIT:C150032 | MONDO:equivalentTo | Cervical Esophagus Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the cervical esophagus. | MONDO:0021326|MONDO:0005580 | +| MONDO:0854298 | gastric cardia squamous cell carcinoma | NCIT:C150034 | MONDO:equivalentTo | Gastric Cardia Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the gastric cardia. | MONDO:0003834|MONDO:0006230 | +| MONDO:0854317 | high risk neuroblastoma | NCIT:C150281 | MONDO:equivalentTo | High Risk Neuroblastoma | Neuroblastoma usually presenting with metastatic disease and MYCN gene amplifications. | MONDO:0005072 | +| MONDO:0854322 | hhv8-related lymphoproliferative disorder | NCIT:C150399 | MONDO:equivalentTo | HHV8-Related Lymphoproliferative Disorder | A lymphoproliferative disorder caused by the human herpesvirus 8 (HHV8). This category includes the following: HHV8-positive multicentric Castleman disease; HHV8-positive diffuse large B-cell lymphoma, not otherwise specified; primary effusion lymphoma; and germinotropic lymphoproliferative disorders. | | +| MONDO:0854323 | hhv8-positive multicentric castleman disease | NCIT:C150404 | MONDO:equivalentTo | HHV8-Positive Multicentric Castleman Disease | Multicentric Castleman disease associated with HHV8 infection. | | +| MONDO:0854324 | extracavitary primary effusion lymphoma | NCIT:C150406 | MONDO:equivalentTo | Extracavitary Primary Effusion Lymphoma | A rare HHV8-positive B-cell lymphoma indistinguishable from primary effusion lymphoma presenting as solid tumor mass. (WHO 2017) | MONDO:0018842 | +| MONDO:0854325 | body cavity primary effusion lymphoma | NCIT:C150407 | MONDO:equivalentTo | Body Cavity Primary Effusion Lymphoma | A large B-cell lymphoma presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV8), also called Kaposi sarcoma-associated herpesvirus. It mostly occurs in the setting of immunodeficiency. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. (WHO 2017) | MONDO:0018842 | +| MONDO:0854332 | refractory malignant bone neoplasm | NCIT:C150525 | MONDO:equivalentTo | Refractory Malignant Bone Neoplasm | Malignant bone neoplasm that is resistant to treatment. | MONDO:0002129|MONDO:0036501 | +| MONDO:0854334 | refractory malignant female reproductive system neoplasm | NCIT:C150527 | MONDO:equivalentTo | Refractory Malignant Female Reproductive System Neoplasm | Malignant female reproductive system neoplasm that is resistant to treatment. | MONDO:0001416|MONDO:0036501 | +| MONDO:0854335 | refractory malignant neoplasm of multiple primary sites | NCIT:C150529 | MONDO:equivalentTo | Refractory Malignant Neoplasm of Multiple Primary Sites | Malignant neoplasm of multiple primary sites that is resistant to treatment. | MONDO:0036501 | +| MONDO:0854339 | refractory malignant male reproductive system neoplasm | NCIT:C150534 | MONDO:equivalentTo | Refractory Malignant Male Reproductive System Neoplasm | Malignant male reproductive system neoplasm that is resistant to treatment. | MONDO:0005836|MONDO:0036501 | +| MONDO:0854340 | refractory malignant mesothelioma | NCIT:C150535 | MONDO:equivalentTo | Refractory Malignant Mesothelioma | Malignant mesothelioma that is resistant to treatment. | MONDO:0006292|MONDO:0036501 | +| MONDO:0854342 | refractory malignant soft tissue neoplasm | NCIT:C150537 | MONDO:equivalentTo | Refractory Malignant Soft Tissue Neoplasm | Malignant soft tissue neoplasm that is resistant to treatment. | MONDO:0024637|MONDO:0036501 | +| MONDO:0854345 | refractory malignant endocrine neoplasm | NCIT:C150541 | MONDO:equivalentTo | Refractory Malignant Endocrine Neoplasm | Malignant endocrine neoplasm that is resistant to treatment. | MONDO:0021069|MONDO:0036501 | +| MONDO:0854347 | refractory malignant urinary system neoplasm | NCIT:C150543 | MONDO:equivalentTo | Refractory Malignant Urinary System Neoplasm | Malignant urinary system neoplasm that is resistant to treatment. | MONDO:0006295|MONDO:0036501 | +| MONDO:0854349 | refractory malignant skin neoplasm | NCIT:C150546 | MONDO:equivalentTo | Refractory Malignant Skin Neoplasm | Malignant skin neoplasm that is resistant to treatment. | MONDO:0002898|MONDO:0036501 | +| MONDO:0854350 | prostate adenocarcinoma without neuroendocrine differentiation | NCIT:C150557 | MONDO:equivalentTo | Prostate Adenocarcinoma without Neuroendocrine Differentiation | A prostate adenocarcinoma characterized by the absence of focal or diffuse neuroendocrine differentiation. | MONDO:0005082 | +| MONDO:0854351 | igm monoclonal gammopathy of undetermined significance | NCIT:C150566 | MONDO:equivalentTo | IgM Monoclonal Gammopathy of Undetermined Significance | Monoclonal gammopathy of undetermined significance defined by a serum IgM paraprotein concentration less than 30g/L; bone marrow lymphoplasmacytic infiltration of less than 10%; and no evidence of anemia, constitutional symptoms, hyperviscocity, lymphadenopathy, hepatosplenomegaly, or other end-organ damage that can be attributed to the underlying lymphoproliferative disorder. It is a precursor condition that may progress to lymphoplasmacytic lymphoma/ Waldenstrom macroglobulinemia, other B-cell neoplasms, or primary amyloidosis. Progression to plasma cell myeloma occurs rarely, if at all. (WHO 2017) | MONDO:0004225 | +| MONDO:0854352 | invasive bladder carcinoma | NCIT:C150570 | MONDO:equivalentTo | Invasive Bladder Carcinoma | A carcinoma that arises from the bladder mucosa and invades the bladder wall. | MONDO:0004986|MONDO:0040677 | +| MONDO:0854353 | localized cerebral neoplasm | NCIT:C150573 | MONDO:equivalentTo | Localized Cerebral Neoplasm | A cerebral neoplasm that is confined to a specific site without evidence of spread to other anatomic sites. | MONDO:0021632|MONDO:0021374 | +| MONDO:0854358 | non-igm monoclonal gammopathy of undetermined significance | NCIT:C150588 | MONDO:equivalentTo | Non-IgM Monoclonal Gammopathy of Undetermined Significance | Monoclonal gammopathy of undetermined significance defined by the presence in the serum of an IgG, IgA, or (rarely) IgD paraprotein at a concentration of less than 30g/L; clonal bone marrow plasma cells less than 10%; and absence of end-organ damage such as hypercalcemia, renal insufficiency, anemia, bone marrow lesions, and amyloidosis attributable to the plasma cell proliferative disorder. The risk of progression to plasma cell myeloma, light-chain amyloidosis, or a related disorder is 1% per year. (WHO 2017) | MONDO:0004225 | +| MONDO:0854359 | testicular follicular lymphoma | NCIT:C150589 | MONDO:equivalentTo | Testicular Follicular Lymphoma | A distinctive variant of follicular lymphoma arising from the testis. It has been reported with higher frequency in children, but is also seen rarely in adults. It differs biologically from nodal follicular lymphoma because it lacks evidence of the BCL2 translocation. It is usually of high cytological grade, usually grade 3A, but has a good prognosis, even without additional therapy beyond surgical excision. (WHO 2017) | MONDO:0001472|MONDO:0018906 | +| MONDO:0854363 | metastatic malignant neoplasm in the viscera | NCIT:C150597 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Viscera | A malignant neoplasm which has spread from its original site of growth to any visceral site. | MONDO:0024880 | +| MONDO:0854365 | resectable malignant neoplasm | NCIT:C150602 | MONDO:equivalentTo | Resectable Malignant Neoplasm | Malignant neoplasm that is amenable to surgical resection. | MONDO:0004992 | +| MONDO:0854374 | immunodeficiency-related lymphoproliferative disorder | NCIT:C150672 | MONDO:equivalentTo | Immunodeficiency-Related Lymphoproliferative Disorder | A lymphoproliferative disorder that occurs in a patient with immunodeficiency. | | +| MONDO:0854376 | tumors derived from langerhans cells | NCIT:C150692 | MONDO:equivalentTo | Tumors Derived from Langerhans Cells | This category includes two main sub-groups, according to the degree of cytological atypia and clinical aggressiveness: Langerhans cell histiocytosis and Langerhans cell sarcoma. (WHO 2017) | MONDO:0006247 | +| MONDO:0854377 | langerhans cell histiocytosis, monostotic | NCIT:C150701 | MONDO:equivalentTo | Langerhans Cell Histiocytosis, Monostotic | Langerhans cell histiocytosis presenting as a solitary lesion. | MONDO:0018310 | +| MONDO:0854378 | langerhans cell histiocytosis, polyostotic | NCIT:C150702 | MONDO:equivalentTo | Langerhans Cell Histiocytosis, Polyostotic | Langerhans cell histiocytosis presenting with multiple sites of involvement. | MONDO:0018310 | +| MONDO:0854379 | langerhans cell histiocytosis, disseminated | NCIT:C150703 | MONDO:equivalentTo | Langerhans Cell Histiocytosis, Disseminated | Langerhans cell histiocytosis presenting with disseminated disease. | MONDO:0018310 | +| MONDO:0854381 | transformed non-hodgkin lymphoma | NCIT:C151957 | MONDO:equivalentTo | Transformed Non-Hodgkin Lymphoma | Histologic transformation of a usually indolent non-Hodgkin lymphoma to an aggressive non-Hodgkin lymphoma. | MONDO:0018908 | +| MONDO:0854382 | acute leukemia of ambiguous lineage, not otherwise specified | NCIT:C151975 | MONDO:equivalentTo | Acute Leukemia of Ambiguous Lineage, Not Otherwise Specified | Acute leukemia of ambiguous lineage, expressing combinations of markers that do not allow for its classification as either acute undifferentiated leukemia or mixed phenotype acute leukemia, and definitive classification along a single lineage is difficult. (WHO 2017) | MONDO:0019460 | +| MONDO:0854385 | abdominal rhabdomyosarcoma | NCIT:C151982 | MONDO:equivalentTo | Abdominal Rhabdomyosarcoma | Rhabdomyosarcoma involving the organs and structures in the abdomen. | MONDO:0005212 | +| MONDO:0854388 | abdominal undifferentiated pleomorphic sarcoma | NCIT:C151985 | MONDO:equivalentTo | Abdominal Undifferentiated Pleomorphic Sarcoma | Undifferentiated pleomorphic sarcoma involving the organs and structures in the abdomen. | MONDO:0002142 | +| MONDO:0854389 | mixed phenotype acute leukemia, rare types | NCIT:C151990 | MONDO:equivalentTo | Mixed Phenotype Acute Leukemia, Rare Types | A very rare mixed phenotype acute leukemia in which the blasts express combinations of B, T, myeloid, and megakaryocytic lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable. | MONDO:0020743 | +| MONDO:0854394 | metastatic sarcoma | NCIT:C152076 | MONDO:equivalentTo | Metastatic Sarcoma | A sarcoma that has spread from its original site of growth to another anatomic site. | MONDO:0005089|MONDO:0024880 | +| MONDO:0854395 | refractory malignant head and neck neoplasm | NCIT:C152078 | MONDO:equivalentTo | Refractory Malignant Head and Neck Neoplasm | A malignant head and neck neoplasm that is resistant to treatment. | MONDO:0005627|MONDO:0036501 | +| MONDO:0854414 | refractory ewing sarcoma/peripheral primitive neuroectodermal tumor | NCIT:C153286 | MONDO:equivalentTo | Refractory Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | A malignant small round cell tumor with or without neural differentiation that is resistant to treatment. | MONDO:0021038|MONDO:0036501 | +| MONDO:0854420 | metastatic chordoma | NCIT:C153323 | MONDO:equivalentTo | Metastatic Chordoma | A chordoma that has spread from its original site of growth to other anatomic sites. | MONDO:0024880|MONDO:0008978 | +| MONDO:0854422 | castration-sensitive prostate carcinoma | NCIT:C153336 | MONDO:equivalentTo | Castration-Sensitive Prostate Carcinoma | Metastatic prostatic carcinoma which is sensitive to androgen-deprivation therapy. | MONDO:0004956 | +| MONDO:0854468 | sinonasal poorly differentiated carcinoma | NCIT:C154324 | MONDO:equivalentTo | Sinonasal Poorly Differentiated Carcinoma | A poorly differentiated carcinoma that arises from the nasal cavity and/or paranasal sinuses. | MONDO:0056819 | +| MONDO:0854469 | densely granulated corticotroph pituitary neuroendocrine tumor | NCIT:C154339 | MONDO:equivalentTo | Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor | A corticotroph pituitary neuroendocrine tumor composed of basophilic PAS-positive cells that are diffusely and strongly positive for ACTH, consistent with the abundance of secretory granules seen at the ultrastructural level. (WHO) | MONDO:0006068 | +| MONDO:0854470 | sparsely granulated corticotroph pituitary neuroendocrine tumor | NCIT:C154340 | MONDO:equivalentTo | Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor | A corticotroph pituitary neuroendocrine tumor composed of faintly basophilic or chromophobic PAS-positive cells with weak or patchy positivity for ACTH, consistent with the scant, small secretory granules seen ultrastructurally. (WHO) | MONDO:0006068 | +| MONDO:0854471 | crooke cell tumor | NCIT:C154342 | MONDO:equivalentTo | Crooke Cell Tumor | A corticotroph pituitary tumor composed of cells with Crooke hyaline change. Ring-like cytokeratin expression is typical of these neoplasms. ACTH expression is dislocated to the cell periphery and juxtanuclear region. Ultrastructurally, intermediate filaments are arranged in a ring-like pattern. (WHO) | MONDO:0006068 | +| MONDO:0854472 | non-functioning corticotroph pituitary neuroendocrine tumor | NCIT:C154429 | MONDO:equivalentTo | Non-Functioning Corticotroph Pituitary Neuroendocrine Tumor | Corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome. | MONDO:0019613|MONDO:0006068 | +| MONDO:0854479 | anaplastic sarcoma of the kidney | NCIT:C154496 | MONDO:equivalentTo | Anaplastic Sarcoma of the Kidney | A rare tumor, usually occurring in young adults (mean age 12 years) with slight female predominance. It is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. Most cases show chondroid differentiation. | MONDO:0002930|MONDO:0020633 | +| MONDO:0854480 | multiple synchronous pituitary neuroendocrine tumors of distinct lineages | NCIT:C154520 | MONDO:equivalentTo | Multiple Synchronous Pituitary Neuroendocrine Tumors of Distinct Lineages | Multiple pituitary neuroendocrine tumors composed of adenohypopheseal cells of two or more lineages or a null cell tumor in combination with a lineage-specific pituitary neuroendocrine tumor in the same gland. | MONDO:0006373 | +| MONDO:0854485 | cutaneous melanoma of the extremity | NCIT:C155305 | MONDO:equivalentTo | Cutaneous Melanoma of the Extremity | A cutaneous melanoma that arises from the upper or lower extremity. | MONDO:0005012 | +| MONDO:0854489 | sarcoma of the extremity | NCIT:C155647 | MONDO:equivalentTo | Sarcoma of the Extremity | A sarcoma that arises from the soft tissues or bones of the upper or lower extremity. | MONDO:0005089 | +| MONDO:0854492 | mixed gangliocytoma-pituitary neuroendocrine tumor | NCIT:C155767 | MONDO:equivalentTo | Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor | A pituitary neoplasm composed of mature ganglionic cells admixed with pituitary neoplastic neuroendocrine cells. | MONDO:0021043|MONDO:0006373 | +| MONDO:0854495 | ependymal pituicytoma | NCIT:C155774 | MONDO:equivalentTo | Ependymal Pituicytoma | A very rare, low-grade neoplasm that arises from the posterior pituitary. It is composed of epithelioid and oncocytic cells forming sheets and fascicles. It shows histopathological features reminiscent of ependymomas, including perivascular pseudorosettes and true rosettes. There is no evidence of necrosis or increased mitotic activity. Despite the presence of ependymal histopathological features, these neoplasms probably are not related to ependymomas. Their prognosis is unknown. | MONDO:0003257 | +| MONDO:0854496 | sellar meningioma | NCIT:C155776 | MONDO:equivalentTo | Sellar Meningioma | A rare meningioma that arises from the sellar region. | MONDO:0002998|MONDO:0002720 | +| MONDO:0854500 | sellar solitary fibrous tumor | NCIT:C155784 | MONDO:equivalentTo | Sellar Solitary Fibrous Tumor | An extremely rare meningeal solitary fibrous tumor that arises from the sellar region. | MONDO:0002720|MONDO:0003223 | +| MONDO:0854518 | metastatic malignant pancreatic neoplasm | NCIT:C155852 | MONDO:equivalentTo | Metastatic Malignant Pancreatic Neoplasm | A malignant neoplasm that arises from the pancreas and has metastasized to another anatomic site. | MONDO:0009831|MONDO:0024880 | +| MONDO:0854521 | chest wall sarcoma | NCIT:C155873 | MONDO:equivalentTo | Chest Wall Sarcoma | A sarcoma that arises from the anatomic structures that surround the lungs and the pleura. | MONDO:0005089|MONDO:0021323 | +| MONDO:0854523 | unresectable desmoid fibromatosis | NCIT:C155877 | MONDO:equivalentTo | Unresectable Desmoid Fibromatosis | Desmoid fibromatosis that is not amenable to surgical resection. | MONDO:0007608 | +| MONDO:0854527 | smoldering waldenstrom macroglobulinemia | NCIT:C155910 | MONDO:equivalentTo | Smoldering Waldenstrom Macroglobulinemia | Waldenstrom macroglobulinemia with serum IgM monoclonal protein equal or more than 3 g/dL and/or at least 10% bone marrow lymphoplasmacytic infiltration but no evidence of constitutional symptoms, symptomatic anemia, or hyperviscosity. (Blood 2008, 112:2709) | MONDO:0100280 | +| MONDO:0854528 | metastatic malignant neoplasm in the thoracic cavity | NCIT:C155919 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Thoracic Cavity | A malignant neoplasm that has spread to the thoracic cavity from another anatomic site. | MONDO:0024880|MONDO:0003274 | +| MONDO:0854529 | medullary hemangioblastoma | NCIT:C155949 | MONDO:equivalentTo | Medullary Hemangioblastoma | A hemangioblastoma that arises from the medulla oblongata. | MONDO:0003902 | +| MONDO:0854530 | chromophobe renal cell carcinoma associated with birt-hogg-dube syndrome | NCIT:C155951 | MONDO:equivalentTo | Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome | Chromophobe renal cell carcinoma that develops in a patient with Birt-Hogg-Dube syndrome. | MONDO:0017885 | +| MONDO:0854531 | uterine ligament papillary cystadenoma | NCIT:C155952 | MONDO:equivalentTo | Uterine Ligament Papillary Cystadenoma | A cystadenoma that arises from the broad or other uterine ligaments. It is characterized by the presence of small papillary projections in the inner surface of the cysts. It may be sporadic or associated with von Hippel-Lindau disease. | MONDO:0021091|MONDO:0020582 | +| MONDO:0854533 | thyroid gland spindle cell follicular adenoma | NCIT:C155957 | MONDO:equivalentTo | Thyroid Gland Spindle Cell Follicular Adenoma | A rare thyroid gland follicular adenoma composed predominantly of spindle cells. | MONDO:0005032 | +| MONDO:0854534 | thyroid gland black follicular adenoma | NCIT:C155958 | MONDO:equivalentTo | Thyroid Gland Black Follicular Adenoma | A thyroid gland follicular adenoma seen in patients treated with minocycline. The tumors have black discoloration visible on macroscopic examination and cytoplasmic accumulation of black pigment. (WHO 2017) | MONDO:0005032 | +| MONDO:0854545 | hypothalamic-chiasmatic pilomyxoid astrocytoma | NCIT:C156038 | MONDO:equivalentTo | Hypothalamic-Chiasmatic Pilomyxoid Astrocytoma | A pilomyxoid astrocytoma occurring in the hypothalamic-chiasmatic region. | MONDO:0016692 | +| MONDO:0854546 | fourth ventricle medulloblastoma | NCIT:C156039 | MONDO:equivalentTo | Fourth Ventricle Medulloblastoma | A medulloblastoma occurring in the fourth ventricle. | MONDO:0007959 | +| MONDO:0854547 | third ventricle germinoma | NCIT:C156040 | MONDO:equivalentTo | Third Ventricle Germinoma | A germinoma that arises from the third ventricle. | MONDO:0002214 | +| MONDO:0854549 | temporal lobe pleomorphic xanthoastrocytoma | NCIT:C156042 | MONDO:equivalentTo | Temporal Lobe Pleomorphic Xanthoastrocytoma | A pleomorphic xanthoastrocytoma that arises from the temporal lobe of the brain. | MONDO:0016690 | +| MONDO:0854550 | spindle cell variant thyroid gland papillary carcinoma | NCIT:C156045 | MONDO:equivalentTo | Spindle Cell Variant Thyroid Gland Papillary Carcinoma | Papillary carcinoma of the thyroid gland with focal areas of spindle cell metaplasia. | MONDO:0005075 | +| MONDO:0854551 | hobnail variant thyroid gland papillary carcinoma | NCIT:C156050 | MONDO:equivalentTo | Hobnail Variant Thyroid Gland Papillary Carcinoma | A rare variant of papillary thyroid gland carcinoma in which more than 30% of cells have hobnail features. (WHO) | MONDO:0005075 | +| MONDO:0854584 | metastatic neuroblastoma | NCIT:C156101 | MONDO:equivalentTo | Metastatic Neuroblastoma | A neuroblastoma that has metastasized from its original site of growth to another anatomic site. | MONDO:0024880|MONDO:0005072 | +| MONDO:0854588 | thyroid gland follicular carcinoma, encapsulated angioinvasive | NCIT:C156122 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Encapsulated Angioinvasive | An encapsulated follicular carcinoma of the thyroid gland which shows angioinvasion. | MONDO:0005034 | +| MONDO:0854589 | thyroid gland follicular carcinoma, widely invasive | NCIT:C156123 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Widely Invasive | A follicular carcinoma of the thyroid gland with extension into surrounding thyroid or extrathyroid tissues. | MONDO:0040677|MONDO:0005034 | +| MONDO:0854594 | thyroid gland mucinous carcinoma | NCIT:C156267 | MONDO:equivalentTo | Thyroid Gland Mucinous Carcinoma | A rare primary carcinoma of the thyroid gland characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. | MONDO:0015075 | +| MONDO:0854595 | intrathyroidal thymoma | NCIT:C156268 | MONDO:equivalentTo | Intrathyroidal Thymoma | A rare thymoma arising within or is attached to the thyroid gland. | MONDO:0015074|MONDO:0006456 | +| MONDO:0854598 | orbital alveolar soft part sarcoma | NCIT:C156276 | MONDO:equivalentTo | Orbital Alveolar Soft Part Sarcoma | An alveolar soft part sarcoma involving the orbit. It usually occurs in children. | MONDO:0004943|MONDO:0011655 | +| MONDO:0854599 | bladder alveolar soft part sarcoma | NCIT:C156277 | MONDO:equivalentTo | Bladder Alveolar Soft Part Sarcoma | An alveolar soft part sarcoma involving the bladder. | MONDO:0001374|MONDO:0011655 | +| MONDO:0854600 | cellular nerve sheath myxoma | NCIT:C156278 | MONDO:equivalentTo | Cellular Nerve Sheath Myxoma | A nerve sheath myxoma with increased cellularity. | MONDO:0006317 | +| MONDO:0854601 | colon liposarcoma | NCIT:C156279 | MONDO:equivalentTo | Colon Liposarcoma | A liposarcoma that arises from the colon. | MONDO:0003352|MONDO:0005060 | +| MONDO:0854608 | thyroid gland schwannoma | NCIT:C156340 | MONDO:equivalentTo | Thyroid Gland Schwannoma | A rare schwannoma that arises from the thyroid gland. | MONDO:0004820|MONDO:0006107 | +| MONDO:0854616 | thyroid gland solitary fibrous tumor | NCIT:C156349 | MONDO:equivalentTo | Thyroid Gland Solitary Fibrous Tumor | A rare solitary fibrous tumor that arises from the thyroid gland. | MONDO:0016238|MONDO:0015074 | +| MONDO:0854631 | metastatic neuroendocrine neoplasm | NCIT:C156485 | MONDO:equivalentTo | Metastatic Neuroendocrine Neoplasm | A neuroendocrine neoplasm that has spread from its original site of growth to another anatomic site. | MONDO:0019496|MONDO:0024880 | +| MONDO:0854639 | malignant abdominal neoplasm | NCIT:C156714 | MONDO:equivalentTo | Malignant Abdominal Neoplasm | A primary or metastatic malignant neoplasm that affects the organs and structures of the abdomen. | MONDO:0004992 | +| MONDO:0854640 | malignant pelvic neoplasm | NCIT:C156715 | MONDO:equivalentTo | Malignant Pelvic Neoplasm | A primary or metastatic malignant neoplasm that affects the organs and structures of the pelvis. | MONDO:0004992 | +| MONDO:0854647 | metastatic basal cell carcinoma | NCIT:C156769 | MONDO:equivalentTo | Metastatic Basal Cell Carcinoma | A carcinoma that arises from the basal cells and has metastasized to another anatomic site. | MONDO:0024879|MONDO:0020804 | +| MONDO:0854656 | adrenal cortical sex cord-stromal tumor | NCIT:C156943 | MONDO:equivalentTo | Adrenal Cortical Sex Cord-Stromal Tumor | An extremely rare sex cord-stromal tumor that arises from the adrenal cortex. The reported cases were solitary and unilateral. | MONDO:0006055|MONDO:0036591 | +| MONDO:0854657 | adrenal gland schwannoma | NCIT:C156944 | MONDO:equivalentTo | Adrenal Gland Schwannoma | A rare schwannoma that arises from the adrenal medulla. | MONDO:0021468|MONDO:0004820 | +| MONDO:0854658 | adrenal gland lymphoma | NCIT:C156945 | MONDO:equivalentTo | Adrenal Gland Lymphoma | A rare lymphoma that arises from the adrenal gland. | MONDO:0002817|MONDO:0001499 | +| MONDO:0854659 | adrenal gland sarcoma | NCIT:C156956 | MONDO:equivalentTo | Adrenal Gland Sarcoma | A rare sarcoma that arises from the adrenal gland. | MONDO:0002817|MONDO:0001501 | +| MONDO:0854660 | primary vitreoretinal non-hodgkin lymphoma | NCIT:C157065 | MONDO:equivalentTo | Primary Vitreoretinal Non-Hodgkin Lymphoma | An uncommon and potentially fatal intraocular non-Hodgkin lymphoma that involves the uvea, retina, vitreous body, and optic nerve. It is a subset of primary central nervous system non-Hodgkin lymphoma. The majority of cases are diffuse large B-cell lymphomas. | MONDO:0004351|MONDO:0044887 | +| MONDO:0854663 | unresectable paraganglioma | NCIT:C157126 | MONDO:equivalentTo | Unresectable Paraganglioma | Paraganglioma that is not amenable to surgical resection. | MONDO:0000448 | +| MONDO:0854669 | breast histiocytoid carcinoma | NCIT:C157235 | MONDO:equivalentTo | Breast Histiocytoid Carcinoma | A rare variant of invasive lobular breast carcinoma characterized by the presence of histiocyte-like malignant cells with pale cytoplasm forming sheets or linear patterns. Apocrine differentiation may be present. It usually has an aggressive clinical course. | MONDO:0005051 | +| MONDO:0854670 | adrenal gland ganglioneuroblastoma, intermixed | NCIT:C157243 | MONDO:equivalentTo | Adrenal Gland Ganglioneuroblastoma, Intermixed | An intermixed ganglioneuroblastoma arising from the adrenal gland. | MONDO:0004477|MONDO:0003326 | +| MONDO:0854671 | adrenal gland ganglioneuroblastoma, nodular | NCIT:C157244 | MONDO:equivalentTo | Adrenal Gland Ganglioneuroblastoma, Nodular | A nodular ganglioneuroblastoma arising from the adrenal gland. | MONDO:0004477|MONDO:0003325 | +| MONDO:0854672 | composite paraganglioma | NCIT:C157246 | MONDO:equivalentTo | Composite Paraganglioma | A neoplasm that combines morphologic characteristics of paraganglioma and neuroectodermal tumors such as neuroblastoma, ganglioneuroma, ganglioneuroblastoma, or peripheral nerve sheath tumor. | MONDO:0000448 | +| MONDO:0854679 | peripheral hemangioblastoma | NCIT:C157450 | MONDO:equivalentTo | Peripheral Hemangioblastoma | A hemangioblastoma that arises from peripheral nerves or extraneural tissues. | MONDO:0016748 | +| MONDO:0854680 | metastatic squamous cell carcinoma in the cervical lymph nodes | NCIT:C157452 | MONDO:equivalentTo | Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes | A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes. | MONDO:0044907|MONDO:0005438 | +| MONDO:0854688 | bap1-mutant clear cell renal cell carcinoma | NCIT:C157614 | MONDO:equivalentTo | BAP1-Mutant Clear Cell Renal Cell Carcinoma | A clear cell renal cell carcinoma that is associated with a mutation in BAP1 gene. These tumors are typically high grade and associated with poor outcome. | MONDO:0005005 | +| MONDO:0854691 | transformed chronic lymphocytic leukemia to diffuse large b-cell lymphoma | NCIT:C157624 | MONDO:equivalentTo | Transformed Chronic Lymphocytic Leukemia to Diffuse Large B-Cell Lymphoma | Histologic transformation of an indolent chronic lymphocytic leukemia to an aggressive diffuse large B-cell lymphoma. | MONDO:0004948 | +| MONDO:0854692 | metastatic adenoid cystic carcinoma | NCIT:C157638 | MONDO:equivalentTo | Metastatic Adenoid Cystic Carcinoma | An adenoid cystic carcinoma that has spread from the original site of growth to other anatomic sites. | MONDO:0004971|MONDO:0024879 | +| MONDO:0854698 | refractory lymphoproliferative disorder | NCIT:C157686 | MONDO:equivalentTo | Refractory Lymphoproliferative Disorder | Lymphoproliferative disorder that is resistant to treatment. | | +| MONDO:0854705 | kidney synovial sarcoma | NCIT:C157737 | MONDO:equivalentTo | Kidney Synovial Sarcoma | A synovial sarcoma arising from the kidney. | MONDO:0002930|MONDO:0010434 | +| MONDO:0854706 | kidney neuroendocrine neoplasm | NCIT:C157743 | MONDO:equivalentTo | Kidney Neuroendocrine Neoplasm | An epithelial neoplasm with neuroendocrine differentiation that arises from the kidney. It includes neuroendocrine tumor, small cell neuroendocrine carcinoma, large cell neuroendocrine carcinoma, and paraganglioma. | MONDO:0019496|MONDO:0021163 | +| MONDO:0854708 | metanephric tumor | NCIT:C157748 | MONDO:equivalentTo | Metanephric Tumor | A neoplasm arising from the distal convoluted tubule and collecting duct areas of the kidney. | MONDO:0002513|MONDO:0036976 | +| MONDO:0854714 | bladder neuroendocrine neoplasm | NCIT:C157758 | MONDO:equivalentTo | Bladder Neuroendocrine Neoplasm | A neuroendocrine neoplasm that arises from the bladder. | MONDO:0019496|MONDO:0004987 | +| MONDO:0854748 | subcutaneous disorder | NCIT:C157995 | MONDO:equivalentTo | Subcutaneous Disorder | A disorder of the subcutaneous tissue. | | +| MONDO:0854749 | kidney epithelioid angiomyolipoma | NCIT:C158032 | MONDO:equivalentTo | Kidney Epithelioid Angiomyolipoma | An angiomyolipoma that arises from the kidney and is composed exclusively or predominantly of epithelioid cells. It is often associated with cytologic atypia and may recur or metastasize. | MONDO:0004555|MONDO:0002606 | +| MONDO:0854750 | kidney mixed epithelial and stromal tumor family | NCIT:C158046 | MONDO:equivalentTo | Kidney Mixed Epithelial and Stromal Tumor Family | A family of tumors ranging from predominantly cystic tumors (adult cystic nephromas) to tumors that are variably solid (mixed epithelial and stromal tumors) and contain biphasic epithelial and stromal components with spindle stroma, glands, and cysts. Most of these tumors are benign. (WHO 2016). | MONDO:0021163 | +| MONDO:0854756 | bladder non-invasive urothelial neoplasm | NCIT:C158374 | MONDO:equivalentTo | Bladder Non-Invasive Urothelial Neoplasm | A non-invasive neoplasm that arises from the urothelial lining of the bladder. | MONDO:0003755|MONDO:0004987 | +| MONDO:0854773 | platinum-sensitive lung small cell carcinoma | NCIT:C158495 | MONDO:equivalentTo | Platinum-Sensitive Lung Small Cell Carcinoma | Lung small cell carcinoma that is sensitive to platinum therapy. | MONDO:0008433 | +| MONDO:0854780 | borderline ovarian mixed epithelial tumor/atypical proliferative ovarian mixed epithelial tumor | NCIT:C158616 | MONDO:equivalentTo | Borderline Ovarian Mixed Epithelial Tumor/Atypical Proliferative Ovarian Mixed Epithelial Tumor | A low grade, non-invasive mixed epithelial proliferative neoplasm that arises from the ovary. In most cases is composed of serous and endocervical-type mucinous cells. | MONDO:0021043|MONDO:0016093 | +| MONDO:0854781 | endometrioid tumor, variant with squamous differentiation | NCIT:C158620 | MONDO:equivalentTo | Endometrioid Tumor, Variant with Squamous Differentiation | An endometrioid tumor exhibiting squamous differentiation. | MONDO:0002480 | +| MONDO:0854783 | bladder soft tissue neoplasm | NCIT:C158636 | MONDO:equivalentTo | Bladder Soft Tissue Neoplasm | A mesenchymal neoplasm that arises from the bladder. | MONDO:0006424|MONDO:0004987 | +| MONDO:0854795 | early stage pancreatic ductal adenocarcinoma | NCIT:C158961 | MONDO:equivalentTo | Early Stage Pancreatic Ductal Adenocarcinoma | Pancreatic ductal adenocarcinoma that has not spread beyond the pancreas. | MONDO:0005184 | +| MONDO:0854803 | kidney rhabdomyosarcoma | NCIT:C159206 | MONDO:equivalentTo | Kidney Rhabdomyosarcoma | An extremely rare rhabdomyosarcoma arising from the kidney. Most cases are of embryonal type. | MONDO:0002930|MONDO:0005212 | +| MONDO:0854804 | kidney ewing sarcoma | NCIT:C159208 | MONDO:equivalentTo | Kidney Ewing Sarcoma | A rare Ewing sarcoma arising from the kidney. | MONDO:0018270|MONDO:0002930 | +| MONDO:0854806 | kidney hemangioma | NCIT:C159211 | MONDO:equivalentTo | Kidney Hemangioma | A rare hemangioma arising from the kidney. | MONDO:0002513|MONDO:0006500 | +| MONDO:0854807 | kidney lymphangioma | NCIT:C159214 | MONDO:equivalentTo | Kidney Lymphangioma | A rare lymphangioma arising from the kidney. | MONDO:0002013|MONDO:0002513 | +| MONDO:0854808 | kidney schwannoma | NCIT:C159221 | MONDO:equivalentTo | Kidney Schwannoma | A rare schwannoma arising from the kidney. | MONDO:0002513|MONDO:0004820 | +| MONDO:0854809 | kidney solitary fibrous tumor | NCIT:C159222 | MONDO:equivalentTo | Kidney Solitary Fibrous Tumor | A rare solitary fibrous tumor arising from the kidney. | MONDO:0016238|MONDO:0021163 | +| MONDO:0854812 | kidney germ cell tumor | NCIT:C159227 | MONDO:equivalentTo | Kidney Germ Cell Tumor | A rare benign or malignant germ cell tumor that arises from the kidney. | MONDO:0018201|MONDO:0021163 | +| MONDO:0854813 | penile human papillomavirus-independent squamous cell carcinoma | NCIT:C159244 | MONDO:equivalentTo | Penile Human Papillomavirus-Independent Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the penis and is not caused by human papillomavirus infection. Morphologic variants include pseudohyperplastic, pseudoglandular, verrucous, papillary, and sarcomatoid carcinoma. | MONDO:0018352 | +| MONDO:0854815 | penile carcinoma cuniculatum | NCIT:C159247 | MONDO:equivalentTo | Penile Carcinoma Cuniculatum | A variant of verrucous carcinoma of the penis. It is characterized by a labyrinthine growth pattern. | MONDO:0003698 | +| MONDO:0854817 | penile papillary-basaloid carcinoma | NCIT:C159249 | MONDO:equivalentTo | Penile Papillary-Basaloid Carcinoma | A variant of penile basaloid squamous cell carcinoma. It is characterized by a papillary exophytic or endophytic growth pattern. | MONDO:0004089 | +| MONDO:0854818 | penile warty-basaloid carcinoma | NCIT:C159250 | MONDO:equivalentTo | Penile Warty-Basaloid Carcinoma | A squamous cell carcinoma that arises from the penis. It is characterized by warty (condylomatous) and basaloid features. | MONDO:0004430|MONDO:0020656 | +| MONDO:0854819 | penile lymphoepithelioma-like carcinoma | NCIT:C159252 | MONDO:equivalentTo | Penile Lymphoepithelioma-Like Carcinoma | A variant of penile squamous cell carcinoma characterized by the presence of islands of malignant cells with uniform vesicular nuclei and prominent nucleoli, and a dense lymphocytic infiltrate. | MONDO:0003572|MONDO:0020656 | +| MONDO:0854820 | borderline ovarian mucinous tumor/atypical proliferative ovarian mucinous tumor with microinvasion | NCIT:C159311 | MONDO:equivalentTo | Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Microinvasion | A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic mucinous epithelial cells, atypia, and microinvasion of the ovarian stroma. | MONDO:0003756 | +| MONDO:0854828 | bladder rhabdomyosarcoma | NCIT:C159667 | MONDO:equivalentTo | Bladder Rhabdomyosarcoma | A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the bladder. | MONDO:0001374|MONDO:0005212 | +| MONDO:0854831 | bladder leiomyosarcoma | NCIT:C159670 | MONDO:equivalentTo | Bladder Leiomyosarcoma | A leiomyosarcoma that arises from the bladder. It is the most common type of bladder sarcoma in adults. | MONDO:0001374|MONDO:0005058 | +| MONDO:0854838 | bladder hemangioma | NCIT:C159680 | MONDO:equivalentTo | Bladder Hemangioma | A hemangioma that arises from the bladder. Most tumors occur in adults. | MONDO:0000384|MONDO:0006500 | +| MONDO:0854839 | bladder granular cell tumor | NCIT:C159681 | MONDO:equivalentTo | Bladder Granular Cell Tumor | A rare granular cell tumor arising from the bladder. Most tumors are benign. | MONDO:0006235|MONDO:0004987 | +| MONDO:0854840 | bladder neurofibroma | NCIT:C159682 | MONDO:equivalentTo | Bladder Neurofibroma | A plexiform or diffuse neurofibroma arising from the bladder. | MONDO:0000384|MONDO:0016755 | +| MONDO:0854841 | ebv-related lymphoproliferative disorder | NCIT:C159717 | MONDO:equivalentTo | EBV-Related Lymphoproliferative Disorder | A lymphoproliferative disorder associated with Epstein-Barr virus. This category includes, but is not limited to, Burkitt lymphoma, classic Hodgkin lymphoma, and lymphomas arising in immunocompromised individuals. | | +| MONDO:0854843 | platinum-sensitive ovarian carcinoma | NCIT:C159902 | MONDO:equivalentTo | Platinum-Sensitive Ovarian Carcinoma | Ovarian carcinoma that has a documented response to platinum-based chemotherapy. | MONDO:0005140 | +| MONDO:0854845 | carcinoma arising in bladder diverticulum | NCIT:C160158 | MONDO:equivalentTo | Carcinoma Arising in Bladder Diverticulum | A carcinoma arising in a bladder diverticulum. Approximately one-third to half of the cases represent non-invasive, low-grade or high-grade urothelial carcinomas. Approximately half of the invasive carcinomas are urothelial. The rest include adenocarcinomas, squamous cell carcinomas, and small cell carcinomas. | MONDO:0004986 | +| MONDO:0854847 | metastatic nut carcinoma | NCIT:C160297 | MONDO:equivalentTo | Metastatic NUT Carcinoma | NUT carcinoma that has spread from its original site of growth to another anatomic site. | MONDO:0024879|MONDO:0005563 | +| MONDO:0854850 | hematologic malignancy-associated skin squamous cell carcinoma | NCIT:C160666 | MONDO:equivalentTo | Hematologic Malignancy-Associated Skin Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the skin in a patient with a history of hematologic malignancy, usually non-Hodgkin lymphoma or chronic lymphocytic leukemia. | MONDO:0002529 | +| MONDO:0854854 | prostate acinar microcystic adenocarcinoma | NCIT:C160817 | MONDO:equivalentTo | Prostate Acinar Microcystic Adenocarcinoma | Acinar prostate adenocarcinoma characterized by the presence of microcystic foci in radical prostatectomy specimens. | MONDO:0002493 | +| MONDO:0854855 | prostate acinar pleomorphic giant cell adenocarcinoma | NCIT:C160818 | MONDO:equivalentTo | Prostate Acinar Pleomorphic Giant Cell Adenocarcinoma | An extremely rare prostate acinar adenocarcinoma characterized by the presence of giant, bizarre anaplastic cells with pleomorphic nuclei and lack of a spindle cell component. | MONDO:0002493 | +| MONDO:0854859 | platinum-sensitive primary peritoneal carcinoma | NCIT:C160872 | MONDO:equivalentTo | Platinum-Sensitive Primary Peritoneal Carcinoma | Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy. | MONDO:0015686 | +| MONDO:0854860 | platinum-sensitive fallopian tube carcinoma | NCIT:C160873 | MONDO:equivalentTo | Platinum-Sensitive Fallopian Tube Carcinoma | Fallopian tube carcinoma that has a documented response to platinum-based chemotherapy. | MONDO:0006206 | +| MONDO:0854866 | cribriform adenocarcinoma of minor salivary gland | NCIT:C160974 | MONDO:equivalentTo | Cribriform Adenocarcinoma of Minor Salivary Gland | A minor salivary gland adenocarcinoma characterized by a cribriform pattern. It often metastasizes to the neck lymph nodes. | MONDO:0006304|MONDO:0006176 | +| MONDO:0854867 | sinonasal adenocarcinoma | NCIT:C160976 | MONDO:equivalentTo | Sinonasal Adenocarcinoma | Adenocarcinomas that arises from the sinonasal tract. This category includes salivary-type and non-salivary type adenocarcinomas. The latter includes intestinal-type and non-intestinal-type adenocarcinomas. | MONDO:0056819|MONDO:0004970 | +| MONDO:0854868 | head and neck sebaceous carcinoma | NCIT:C160978 | MONDO:equivalentTo | Head and Neck Sebaceous Carcinoma | A sebaceous carcinoma that arises from the head and neck region. | MONDO:0006962|MONDO:0002038 | +| MONDO:0854872 | prostate intraductal carcinoma | NCIT:C161022 | MONDO:equivalentTo | Prostate Intraductal Carcinoma | An intra-acinar and/or intraductal neoplastic epithelial proliferation in the prostate gland that has some features of high-grade prostatic intraepithelial neoplasia but exhibits much greater architectural and/or cytological atypia, typically associated with high-grade, high-stage prostate carcinoma. (WHO 2016) | MONDO:0005159 | +| MONDO:0854873 | prostate synovial sarcoma | NCIT:C161034 | MONDO:equivalentTo | Prostate Synovial Sarcoma | A rare synovial sarcoma that arises from the prostate gland. | MONDO:0002854|MONDO:0010434 | +| MONDO:0854874 | prostate osteosarcoma | NCIT:C161035 | MONDO:equivalentTo | Prostate Osteosarcoma | A rare osteosarcoma that arises from the prostate gland. | MONDO:0002621|MONDO:0002854 | +| MONDO:0854875 | prostate undifferentiated pleomorphic sarcoma | NCIT:C161038 | MONDO:equivalentTo | Prostate Undifferentiated Pleomorphic Sarcoma | A rare undifferentiated pleomorphic sarcoma that arises from the prostate gland. | MONDO:0002854|MONDO:0002142 | +| MONDO:0854877 | prostate soft tissue neoplasm | NCIT:C161045 | MONDO:equivalentTo | Prostate Soft Tissue Neoplasm | A mesenchymal neoplasm that arises from the prostate gland. | MONDO:0006424|MONDO:0021259 | +| MONDO:0854881 | prostate hemangioma | NCIT:C161581 | MONDO:equivalentTo | Prostate Hemangioma | A rare hemangioma that arises from the prostate gland. | MONDO:0021510|MONDO:0006500 | +| MONDO:0854886 | prostate carcinoma metastatic in the lymph nodes | NCIT:C161587 | MONDO:equivalentTo | Prostate Carcinoma Metastatic in the Lymph Nodes | A carcinoma that arises from the prostate gland and has spread to the lymph nodes. | MONDO:0004956|MONDO:0005438 | +| MONDO:0854888 | prostate cystadenoma | NCIT:C161606 | MONDO:equivalentTo | Prostate Cystadenoma | A rare cystadenoma affecting the prostate gland. It is characterized by the presence of multilocular prostatic cysts. | MONDO:0021510|MONDO:0002369 | +| MONDO:0854889 | prostate wilms tumor | NCIT:C161607 | MONDO:equivalentTo | Prostate Wilms Tumor | A rare Wilms tumor affecting the prostate gland. | MONDO:0008315|MONDO:0006058 | +| MONDO:0854891 | prostate melanoma | NCIT:C161611 | MONDO:equivalentTo | Prostate Melanoma | An exceptionally rare melanoma arising from the prostate gland. | MONDO:0006320|MONDO:0008315 | +| MONDO:0854893 | seminal vesicle mixed epithelial and stromal tumor | NCIT:C161636 | MONDO:equivalentTo | Seminal Vesicle Mixed Epithelial and Stromal Tumor | A rare biphasic neoplasm that arises from the seminal vesicle. It is characterized by the presence of stromal and benign epithelial components. Rarely, the stromal component may display atypia and mitotic activity and the tumor may behave in a malignant clinical course. | MONDO:0021043|MONDO:0002790 | +| MONDO:0854895 | benign seminal vesicle neoplasm | NCIT:C161643 | MONDO:equivalentTo | Benign Seminal Vesicle Neoplasm | A neoplasm that arises from the seminal vesicle and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0000625|MONDO:0002790 | +| MONDO:0854896 | malignant seminal vesicle neoplasm | NCIT:C161644 | MONDO:equivalentTo | Malignant Seminal Vesicle Neoplasm | A primary or metastatic malignant neoplasm that affects the seminal vesicle. | MONDO:0005836|MONDO:0002790 | +| MONDO:0854902 | regressed testicular germ cell tumor | NCIT:C162139 | MONDO:equivalentTo | Regressed Testicular Germ Cell Tumor | A testicular germ cell tumor that has undergone either partial or complete regression, resulting in the creation of a fibrotic nodule in the testis. | MONDO:0010108 | +| MONDO:0854909 | cervical cancer by figo stage 2018 | NCIT:C162225 | MONDO:equivalentTo | Cervical Cancer by FIGO Stage 2018 | A term that refers to the staging of cervical cancer according to the International Federation of Gynecology and Obstetrics (FIGO) staging, 2018. | MONDO:0005131 | +| MONDO:0854911 | metastatic malignant digestive system neoplasm | NCIT:C162255 | MONDO:equivalentTo | Metastatic Malignant Digestive System Neoplasm | A malignant neoplasm that arises in the digestive system and has spread from its original site of growth to other anatomic sites. | MONDO:0002516|MONDO:0024880 | +| MONDO:0854912 | hypermutated colorectal carcinoma | NCIT:C162256 | MONDO:equivalentTo | Hypermutated Colorectal Carcinoma | A colorectal carcinoma characterized by a high mutational rate caused by DNA mismatch repair deficiency or POLE/POLD1 driver mutations. | MONDO:0024331 | +| MONDO:0854925 | thymic neuroendocrine neoplasm | NCIT:C162460 | MONDO:equivalentTo | Thymic Neuroendocrine Neoplasm | A carcinoid tumor or neuroendocrine carcinoma arising from the thymus gland. | MONDO:0018079|MONDO:0019496 | +| MONDO:0854927 | intratubular large cell hyalinizing sertoli cell neoplasia | NCIT:C162466 | MONDO:equivalentTo | Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia | A clinically benign intratubular neoplastic proliferation of large Sertoli cells in the testis. It is associated with prominent basement membrane deposits. It occurs almost exclusively in patients with Peutz-Jeghers syndrome. | MONDO:0003125 | +| MONDO:0854928 | testicular diffuse large b-cell lymphoma | NCIT:C162467 | MONDO:equivalentTo | Testicular Diffuse Large B-Cell Lymphoma | A diffuse large B-cell lymphoma that arises from the testis. It predominantly affects older men. Patients usually present with a unilateral hard painless mass. Bilateral masses have been described in a minority of patients. | MONDO:0001472|MONDO:0018905 | +| MONDO:0854929 | testicular nasal type extranodal nk/t-cell lymphoma | NCIT:C162468 | MONDO:equivalentTo | Testicular Nasal Type Extranodal NK/T-Cell Lymphoma | A nasal type extranodal NK/T-cell lymphoma affecting the testis. Patients usually present with unilateral testicular enlargement. Bilateral involvement is rare. The prognosis is poor. | MONDO:0001472|MONDO:0019472 | +| MONDO:0854930 | testicular myeloid sarcoma | NCIT:C162469 | MONDO:equivalentTo | Testicular Myeloid Sarcoma | A rare myeloid sarcoma that arises from the testis. At presentation the involvement is usually unilateral. | MONDO:0005447|MONDO:0006861 | +| MONDO:0854931 | testicular plasmacytoma | NCIT:C162470 | MONDO:equivalentTo | Testicular Plasmacytoma | A rare plasmacytoma that arises in the testis. At presentation the involvement is usually unilateral. | MONDO:0005447|MONDO:0002754 | +| MONDO:0854936 | paratesticular neoplasm | NCIT:C162485 | MONDO:equivalentTo | Paratesticular Neoplasm | A benign, borderline, or malignant neoplasm that affects the paratesticular structures. | MONDO:0024582 | +| MONDO:0854952 | penile melanoma | NCIT:C162547 | MONDO:equivalentTo | Penile Melanoma | A melanoma that arises from the penis. It may be cutaneous or mucosal. The most common site of involvement is glans penis. | MONDO:0001325|MONDO:0005105 | +| MONDO:0854953 | penile lymphoma | NCIT:C162548 | MONDO:equivalentTo | Penile Lymphoma | A lymphoma that arises from penile skin, subcutis, corpora cavernosa, and spongiosum. Diffuse large B-cell lymphoma is the most common primary penile lymphoma. (WHO 2016) | MONDO:0001325|MONDO:0017207 | +| MONDO:0854955 | primary peritoneal undifferentiated carcinoma | NCIT:C162562 | MONDO:equivalentTo | Primary Peritoneal Undifferentiated Carcinoma | An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation. | MONDO:0015686|MONDO:0005617 | +| MONDO:0854956 | primary peritoneal transitional cell carcinoma | NCIT:C162564 | MONDO:equivalentTo | Primary Peritoneal Transitional Cell Carcinoma | An extremely rare transitional cell carcinoma that arises from the peritoneum. | MONDO:0015686|MONDO:0006474 | +| MONDO:0854959 | penile soft tissue neoplasm | NCIT:C162574 | MONDO:equivalentTo | Penile Soft Tissue Neoplasm | A rare mesenchymal neoplasm that arises from the penis. | MONDO:0006424|MONDO:0006895 | +| MONDO:0854966 | penile malignant peripheral nerve sheath tumor | NCIT:C162584 | MONDO:equivalentTo | Penile Malignant Peripheral Nerve Sheath Tumor | A rare malignant peripheral nerve sheath tumor that occurs in the penis. | MONDO:0001387|MONDO:0017827 | +| MONDO:0854967 | penile leiomyosarcoma | NCIT:C162585 | MONDO:equivalentTo | Penile Leiomyosarcoma | A leiomyosarcoma that occurs in the penis. | MONDO:0001387|MONDO:0005058 | +| MONDO:0854968 | penile schwannoma | NCIT:C162586 | MONDO:equivalentTo | Penile Schwannoma | A schwannoma that occurs in the penis. | MONDO:0004820|MONDO:0021458 | +| MONDO:0854969 | penile neurofibroma | NCIT:C162587 | MONDO:equivalentTo | Penile Neurofibroma | A neurofibroma that occurs in the penis. | MONDO:0021458|MONDO:0016755 | +| MONDO:0854970 | penile rhabdomyosarcoma | NCIT:C162588 | MONDO:equivalentTo | Penile Rhabdomyosarcoma | A rhabdomyosarcoma that occurs in the penis. It usually affects young children. Embryonal rhabdomyosarcoma is the most common type. | MONDO:0001387|MONDO:0005212 | +| MONDO:0854971 | penile undifferentiated pleomorphic sarcoma | NCIT:C162589 | MONDO:equivalentTo | Penile Undifferentiated Pleomorphic Sarcoma | A rare undifferentiated pleomorphic sarcoma that occurs in the penis. | MONDO:0001387|MONDO:0002142 | +| MONDO:0854974 | metastatic malignant neoplasm in the head and neck | NCIT:C162594 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Head and Neck | The spread of a malignant neoplasm to the head and neck. This may be from a primary head and neck malignant neoplasm, or from a malignant neoplasm at a distant site. | MONDO:0005627|MONDO:0024880 | +| MONDO:0854984 | refractory childhood malignant neoplasm | NCIT:C162703 | MONDO:equivalentTo | Refractory Childhood Malignant Neoplasm | A childhood malignant neoplasm that does not respond to treatment. | MONDO:0006517|MONDO:0036501 | +| MONDO:0854998 | asph-positive head and neck squamous cell carcinoma | NCIT:C162770 | MONDO:equivalentTo | ASPH-Positive Head and Neck Squamous Cell Carcinoma | A head and neck squamous cell carcinoma in which the malignant cells are positive for ASPH gene. | MONDO:0010150 | +| MONDO:0855003 | parapharyngeal neoplasm | NCIT:C162820 | MONDO:equivalentTo | Parapharyngeal Neoplasm | A benign or malignant neoplasm that affects the parapharyngeal space. | MONDO:0021351 | +| MONDO:0855006 | retropharyngeal neoplasm | NCIT:C162825 | MONDO:equivalentTo | Retropharyngeal Neoplasm | A benign or malignant neoplasm that affects the retropharyngeal space. | MONDO:0021351 | +| MONDO:0855015 | non-invasive cribriform carcinoma | NCIT:C162973 | MONDO:equivalentTo | Non-Invasive Cribriform Carcinoma | A carcinoma characterized by the presence of a cribriform architectural pattern. There is no evidence of surrounding stromal invasion by the malignant cells. | MONDO:0006176 | +| MONDO:0855016 | malignant brain glioma | NCIT:C162993 | MONDO:equivalentTo | Malignant Brain Glioma | A grade 3 or 4 glioma that arises from the brain. This category includes anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligoastrocytoma, anaplastic oligodendroglioma, anaplastic pleomorphic xanthoastrocytoma (all grade 3 gliomas), and glioblastoma (grade 4 glioma). | MONDO:0100342|MONDO:0021632|MONDO:0001657 | +| MONDO:0855028 | micropapillary carcinoma | NCIT:C164144 | MONDO:equivalentTo | Micropapillary Carcinoma | A carcinoma characterized by the presence of a predominant micropapillary pattern. | MONDO:0006509 | +| MONDO:0855034 | aggressive prostate adenocarcinoma | NCIT:C164185 | MONDO:equivalentTo | Aggressive Prostate Adenocarcinoma | Prostate adenocarcinoma that metastasizes quickly to other anatomic sites. It usually has a Gleason score between 8 and 10, a PSA level higher than 20 ng/ml, and is classified as T3b or T4. | MONDO:0005082 | +| MONDO:0855035 | head and neck sarcoma | NCIT:C164198 | MONDO:equivalentTo | Head and Neck Sarcoma | A sarcoma that arises from the head and neck region. | MONDO:0005089|MONDO:0005627 | +| MONDO:0855040 | warty carcinoma | NCIT:C164248 | MONDO:equivalentTo | Warty Carcinoma | A squamous cell carcinoma characterized by a papillary growth pattern, hyperkeratosis, and koilocytosis. | MONDO:0002979 | +| MONDO:0855041 | differentiated intraepithelial neoplasia | NCIT:C164249 | MONDO:equivalentTo | Differentiated Intraepithelial Neoplasia | Intraepithelial neoplasia of the penis or vulva. It usually presents as a solitary white or pink macule or plaque that may be slightly elevated. A background of long-standing lichen sclerosus is often present. | MONDO:0024474 | +| MONDO:0855042 | human papillomavirus-independent squamous cell carcinoma | NCIT:C164250 | MONDO:equivalentTo | Human Papillomavirus-Independent Squamous Cell Carcinoma | A squamous cell carcinoma not associated with human papilloma virus infection. | MONDO:0005096 | +| MONDO:0855043 | invasive sarcomatoid urothelial carcinoma | NCIT:C164252 | MONDO:equivalentTo | Invasive Sarcomatoid Urothelial Carcinoma | An invasive urothelial carcinoma that exhibits spindle cell sarcomatoid features. | MONDO:0040678|MONDO:0002837 | +| MONDO:0855044 | mixed neuroendocrine non-neuroendocrine neoplasm | NCIT:C164255 | MONDO:equivalentTo | Mixed Neuroendocrine Non-Neuroendocrine Neoplasm | A rare neoplasm that consists of neuroendocrine and non-neuroendocrine cellular components. At least 30% of either component should be present for the diagnosis to be made. | MONDO:0021043|MONDO:0005626 | +| MONDO:0855047 | nf1-associated malignant peripheral nerve sheath tumor | NCIT:C164313 | MONDO:equivalentTo | NF1-Associated Malignant Peripheral Nerve Sheath Tumor | A malignant peripheral nerve sheath tumor that is associated with NF1 gene inactivation and a history of neurofibromatosis type 1. | MONDO:0017827 | +| MONDO:0855048 | sporadic malignant peripheral nerve sheath tumor | NCIT:C164314 | MONDO:equivalentTo | Sporadic Malignant Peripheral Nerve Sheath Tumor | A malignant peripheral nerve sheath tumor that is not caused by inherited genetic mutations. | MONDO:0017827 | +| MONDO:0855049 | radiation-induced malignant peripheral nerve sheath tumor | NCIT:C164316 | MONDO:equivalentTo | Radiation-Induced Malignant Peripheral Nerve Sheath Tumor | A malignant peripheral nerve sheath tumor that is the result of exposure to ionizing radiation. | MONDO:0017827 | +| MONDO:0855058 | soft tissue sarcoma of the trunk and extremities | NCIT:C165190 | MONDO:equivalentTo | Soft Tissue Sarcoma of the Trunk and Extremities | A soft tissue sarcoma that arises from the trunk or the extremities. | MONDO:0018078 | +| MONDO:0855059 | metastatic malignant mesothelioma | NCIT:C165252 | MONDO:equivalentTo | Metastatic Malignant Mesothelioma | Malignant mesothelioma that has spread from its original site of growth to another anatomic site. | MONDO:0006292|MONDO:0024880 | +| MONDO:0855079 | skin verrucous carcinoma | NCIT:C165465 | MONDO:equivalentTo | Skin Verrucous Carcinoma | A verrucous carcinoma that arises from the skin. It usually affects the palms, soles, and distal digits. | MONDO:0002529|MONDO:0006006 | +| MONDO:0855080 | skin squamous cell carcinoma with osteoclast-like giant cells | NCIT:C165466 | MONDO:equivalentTo | Skin Squamous Cell Carcinoma with Osteoclast-Like Giant Cells | A rare squamous cell carcinoma of the skin characterized by the presence of multinucleated non-neoplastic giant cells that resemble osteoclasts. | MONDO:0002529 | +| MONDO:0855081 | skin lymphoepithelial carcinoma | NCIT:C165467 | MONDO:equivalentTo | Skin Lymphoepithelial Carcinoma | A rare, poorly differentiated squamous cell carcinoma of the skin. It is characterized by the presence of tumor cells islands surrounded and infiltrated by lymphocytes and plasma cells. | MONDO:0002529|MONDO:0003572 | +| MONDO:0855082 | skin squamous cell carcinoma with sarcomatoid differentiation | NCIT:C165468 | MONDO:equivalentTo | Skin Squamous Cell Carcinoma with Sarcomatoid Differentiation | A rare carcinoma of the skin characterized by the presence of squamous cell carcinomatous and sarcomatous components. | MONDO:0002529|MONDO:0002928 | +| MONDO:0855085 | lichen planus-like keratosis | NCIT:C165485 | MONDO:equivalentTo | Lichen Planus-Like Keratosis | A benign intraepidermal squamoproliferative neoplasm characterized by irregular acanthosis, hyperkeratosis, parakeratosis, and prominent chronic inflammation. | MONDO:0002093 | +| MONDO:0855094 | combined nevus | NCIT:C165529 | MONDO:equivalentTo | Combined Nevus | A nevus that contains two or more melanocytic nevus components in the same lesion. The cellular components can be any combination of any nevus variants, but most frequently, a common nevus component is combined with a blue nevus, deep penetrating nevus, or Spitz nevus component. (WHO 2018) | MONDO:0044794 | +| MONDO:0855104 | proximal gastric adenocarcinoma | NCIT:C165628 | MONDO:equivalentTo | Proximal Gastric Adenocarcinoma | A gastric adenocarcinoma that arises from the proximal part of the stomach. | MONDO:0005036 | +| MONDO:0855113 | mixed carcinoma | NCIT:C165723 | MONDO:equivalentTo | Mixed Carcinoma | A carcinoma characterized by the presence of more than one malignant epithelial histologic pattern. | MONDO:0005853|MONDO:0004993 | +| MONDO:0855116 | hormone receptor-negative breast carcinoma | NCIT:C165743 | MONDO:equivalentTo | Hormone Receptor-Negative Breast Carcinoma | Breast adenocarcinoma that is negative for hormone receptors. | MONDO:0004988 | +| MONDO:0855127 | musculoskeletal neoplasm | NCIT:C166354 | MONDO:equivalentTo | Musculoskeletal Neoplasm | A benign, intermediate, or malignant neoplasm that affects muscles and bones. | MONDO:0002081|MONDO:0044334 | +| MONDO:0855132 | pancreatobiliary carcinoma | NCIT:C166418 | MONDO:equivalentTo | Pancreatobiliary Carcinoma | A carcinoma that arises from the pancreas, bile ducts, gallbladder, or ampulla of Vater. | MONDO:0006181 | +| MONDO:0855139 | acute myeloid leukemia with ram immunophenotype | NCIT:C167089 | MONDO:equivalentTo | Acute Myeloid Leukemia with RAM Immunophenotype | A high risk pediatric acute myeloid leukemia with an extremely poor prognosis. The blasts show bright CD56 expression, dim-to-negative expression of CD45 and CD38, and lack of HLA-DR expression. This immunophenotype was named after one of the pediatric patient's initials (RAM), from Children's Oncology Group (COG) clinical trial AAML0531. | MONDO:0004996 | +| MONDO:0855140 | obesity-related malignant neoplasm | NCIT:C167168 | MONDO:equivalentTo | Obesity-Related Malignant Neoplasm | A malignant neoplasm that occurs in the context of obesity. | MONDO:0004992 | +| MONDO:0855143 | metastatic primary peritoneal carcinoma | NCIT:C167203 | MONDO:equivalentTo | Metastatic Primary Peritoneal Carcinoma | A carcinoma that arises from the peritoneum and has metastasized to another anatomic site. | MONDO:0015686|MONDO:0024879 | +| MONDO:0855150 | midgut neuroendocrine tumor | NCIT:C167327 | MONDO:equivalentTo | Midgut Neuroendocrine Tumor | A neuroendocrine tumor that arises from the jejunum, ileum, proximal colon, or appendix. | MONDO:0000386 | +| MONDO:0855151 | adnexal adenocarcinoma, not otherwise specified | NCIT:C167341 | MONDO:equivalentTo | Adnexal Adenocarcinoma, Not Otherwise Specified | An adnexal carcinoma with ductal/glandular differentiation lacking specific histological features that would allow further classification. (WHO 2018) | MONDO:0006973|MONDO:0004970 | +| MONDO:0855152 | spiradenocylindroma | NCIT:C167342 | MONDO:equivalentTo | Spiradenocylindroma | A benign adnexal neoplasm with histological features of both spiradenoma and cylindroma in a single nodular lesion. | MONDO:0021489 | +| MONDO:0855153 | spiradenocylindrocarcinoma | NCIT:C167344 | MONDO:equivalentTo | Spiradenocylindrocarcinoma | A carcinoma that arises in a spiradenocylindroma. | MONDO:0005524|MONDO:0024878 | +| MONDO:0855154 | malignant mixed tumor of the skin | NCIT:C167346 | MONDO:equivalentTo | Malignant Mixed Tumor of the Skin | A rare malignant skin neoplasm that arises from a benign mixed tumor of the skin (chondroid syringoma). | MONDO:0002206|MONDO:0005853 | +| MONDO:0855157 | syringocystadenocarcinoma papilliferum | NCIT:C167365 | MONDO:equivalentTo | Syringocystadenocarcinoma Papilliferum | A sweat gland carcinoma usually arising from a pre-existing syringocystadenoma papilliferum. | MONDO:0005524 | +| MONDO:0855158 | adnexal cribriform carcinoma | NCIT:C167366 | MONDO:equivalentTo | Adnexal Cribriform Carcinoma | A rare indolent adnexal carcinoma with a cribriform pattern. | MONDO:0006973|MONDO:0006176 | +| MONDO:0855159 | adnexal secretory carcinoma | NCIT:C167368 | MONDO:equivalentTo | Adnexal Secretory Carcinoma | A rare adnexal carcinoma that is histopathologically identical to homologous lesions in the salivary gland and breast. (WHO 2018) | MONDO:0006973|MONDO:0004970 | +| MONDO:0855160 | signet ring cell/histiocytoid carcinoma | NCIT:C167369 | MONDO:equivalentTo | Signet Ring Cell/Histiocytoid Carcinoma | A rare aggressive adnexal carcinoma preferentially affecting the eyelid and histopathologically resembling a metastatic lobular carcinoma of the breast and/or some adenocarcinomas arising in the gastrointestinal tract. (WHO 2018) | MONDO:0006973|MONDO:0004970 | +| MONDO:0855173 | resectable glioma | NCIT:C168573 | MONDO:equivalentTo | Resectable Glioma | A glioma that is amenable to surgical resection. | MONDO:0021042 | +| MONDO:0855181 | phyllodes tumor of anogenital mammary-type glands | NCIT:C168602 | MONDO:equivalentTo | Phyllodes Tumor of Anogenital Mammary-Type Glands | A rare phyllodes tumor that arises from mammary-like glands in the anogenital region. | MONDO:0005078 | +| MONDO:0855182 | metastatic malignant neoplasm in the digestive system | NCIT:C168669 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Digestive System | A malignant neoplasm that has spread to the digestive system from another anatomic site. | MONDO:0024880|MONDO:0002516 | +| MONDO:0855187 | unresectable round cell liposarcoma | NCIT:C168724 | MONDO:equivalentTo | Unresectable Round Cell Liposarcoma | A round cell liposarcoma that is not amenable to surgical resection. | MONDO:0005238 | +| MONDO:0855221 | skin soft tissue neoplasm | NCIT:C169100 | MONDO:equivalentTo | Skin Soft Tissue Neoplasm | A mesenchymal neoplasm that arises from the skin. | MONDO:0006424|MONDO:0002531 | +| MONDO:0855230 | metastatic malignant head and neck neoplasm | NCIT:C170467 | MONDO:equivalentTo | Metastatic Malignant Head and Neck Neoplasm | A malignant neoplasm that arises from the head and neck region and has spread to another anatomic site. | MONDO:0005627|MONDO:0024880 | +| MONDO:0855232 | skin pleomorphic liposarcoma | NCIT:C170473 | MONDO:equivalentTo | Skin Pleomorphic Liposarcoma | A rare pleomorphic liposarcoma arising from the skin. | MONDO:0003600|MONDO:0020562 | +| MONDO:0855235 | skin angiolipoma | NCIT:C170478 | MONDO:equivalentTo | Skin Angiolipoma | An angiolipoma arising from the skin. | MONDO:0000964|MONDO:0006085 | +| MONDO:0855238 | benign periampullary neoplasm | NCIT:C170725 | MONDO:equivalentTo | Benign Periampullary Neoplasm | A neoplasm that arises from the periampullary region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.. | MONDO:0006734 | +| MONDO:0855241 | metastatic malignant breast neoplasm | NCIT:C170728 | MONDO:equivalentTo | Metastatic Malignant Breast Neoplasm | A malignant breast neoplasm that has metastasized to another anatomic site. | MONDO:0007254|MONDO:0024880 | +| MONDO:0855243 | primary peritoneal adenocarcinoma | NCIT:C170733 | MONDO:equivalentTo | Primary Peritoneal Adenocarcinoma | A rare adenocarcinoma that arises from the lining of the peritoneum. | MONDO:0015686|MONDO:0004970 | +| MONDO:0855244 | appendix mucinous neoplasm | NCIT:C170734 | MONDO:equivalentTo | Appendix Mucinous Neoplasm | An appendiceal neoplasm characterized by mucinous epithelial proliferation with extracellular mucin and pushing tumour margins. (WHO 2019) | MONDO:0024338|MONDO:0001236 | +| MONDO:0855245 | pleomorphic fibroma | NCIT:C170736 | MONDO:equivalentTo | Pleomorphic Fibroma | A benign, often polypoid, fibroblastic neoplasm characterized by bizarre pleomorphic cells. (WHO 2018) | MONDO:0005167 | +| MONDO:0855249 | non-muscle invasive bladder urothelial carcinoma | NCIT:C170772 | MONDO:equivalentTo | Non-Muscle Invasive Bladder Urothelial Carcinoma | An infiltrating urothelial carcinoma of the bladder that has not invaded into the bladder muscularis propria. | MONDO:0003890|MONDO:0004200 | +| MONDO:0855250 | alveolar ridge squamous cell carcinoma | NCIT:C170774 | MONDO:equivalentTo | Alveolar Ridge Squamous Cell Carcinoma | Squamous cell carcinoma arising from the upper or lower alveolar ridge. | MONDO:0004958 | +| MONDO:0855252 | metastatic malignant skin neoplasm | NCIT:C170811 | MONDO:equivalentTo | Metastatic Malignant Skin Neoplasm | A malignant neoplasm of the skin that has spread to other anatomic sites. | MONDO:0024880|MONDO:0002898 | +| MONDO:0855256 | metastatic rhabdoid tumor | NCIT:C170828 | MONDO:equivalentTo | Metastatic Rhabdoid Tumor | A rhabdoid tumor that has spread from the original site of growth to another anatomic site. | MONDO:0002728|MONDO:0024880 | +| MONDO:0855262 | malignant jejunal neoplasm | NCIT:C170919 | MONDO:equivalentTo | Malignant Jejunal Neoplasm | A primary or metastatic malignant neoplasm that affects the jejunum. | MONDO:0002564|MONDO:0000956 | +| MONDO:0855263 | metastatic carcinosarcoma | NCIT:C170924 | MONDO:equivalentTo | Metastatic Carcinosarcoma | Carcinosarcoma that has spread from its original site of growth to another anatomic site. | MONDO:0024880|MONDO:0002928 | +| MONDO:0855266 | malignant fundus neoplasm | NCIT:C170940 | MONDO:equivalentTo | Malignant Fundus Neoplasm | A primary or metastatic malignant neoplasm that affects the gastric fundus. | MONDO:0001056 | +| MONDO:0855281 | human papillomavirus-related mucosal head and neck squamous cell carcinoma | NCIT:C171023 | MONDO:equivalentTo | Human Papillomavirus-Related Mucosal Head and Neck Squamous Cell Carcinoma | A squamous cell carcinoma associated with human papilloma virus, arising from the mucosal sites of head and neck. | MONDO:0020657|MONDO:0010150 | +| MONDO:0855283 | ovarian neuroendocrine carcinoma | NCIT:C171032 | MONDO:equivalentTo | Ovarian Neuroendocrine Carcinoma | A small cell carcinoma, pulmonary-type or large cell neuroendocrine carcinoma arising from the ovary. | MONDO:0002481|MONDO:0005140 | +| MONDO:0855284 | endometrial neuroendocrine carcinoma | NCIT:C171033 | MONDO:equivalentTo | Endometrial Neuroendocrine Carcinoma | A small cell or large cell neuroendocrine carcinoma arising from the endometrium. | MONDO:0002447|MONDO:0021650 | +| MONDO:0855285 | mediastinal non-hodgkin lymphoma | NCIT:C171037 | MONDO:equivalentTo | Mediastinal Non-Hodgkin Lymphoma | Non-Hodgkin lymphoma arising from the mediastinum. | MONDO:0004021|MONDO:0018908 | +| MONDO:0855297 | oligometastatic prostate carcinoma | NCIT:C171265 | MONDO:equivalentTo | Oligometastatic Prostate Carcinoma | Prostate carcinoma that has metastasized to a limited number of sites. | MONDO:0004956 | +| MONDO:0855330 | acute myeloid leukemia arising from previous myeloproliferative neoplasm | NCIT:C172129 | MONDO:equivalentTo | Acute Myeloid Leukemia Arising from Previous Myeloproliferative Neoplasm | An acute myeloid leukemia developing in patients with a prior history of myeloproliferative neoplasm. | MONDO:0019457 | +| MONDO:0855331 | acute myeloid leukemia arising from previous myelodysplastic/myeloproliferative neoplasm | NCIT:C172130 | MONDO:equivalentTo | Acute Myeloid Leukemia Arising from Previous Myelodysplastic/Myeloproliferative Neoplasm | An acute myeloid leukemia developing in patients with a prior history of myelodysplastic/myeloproliferative neoplasm. | MONDO:0019457 | +| MONDO:0855335 | progesterone receptor-positive malignant neoplasm | NCIT:C172183 | MONDO:equivalentTo | Progesterone Receptor-Positive Malignant Neoplasm | A malignant neoplasm that is positive for progesterone receptors. | MONDO:0004992 | +| MONDO:0855336 | sinusoidal hemangioma | NCIT:C172206 | MONDO:equivalentTo | Sinusoidal Hemangioma | A rare hemangioma occurring mainly in middle-aged adults. The most common location is in the trunk. The lesions are small, asymptomatic, and bluish. They are composed of irregular, dilated, congested thin-walled vascular channels with scant smooth muscle in a sinusoidal or sieve-like pattern. (WHO 2018) | MONDO:0006557 | +| MONDO:0855346 | refractory myeloid neoplasm | NCIT:C172281 | MONDO:equivalentTo | Refractory Myeloid Neoplasm | A myeloid neoplasm that does not respond to treatment. | MONDO:0005170|MONDO:0004111 | +| MONDO:0855368 | skin ewing sarcoma | NCIT:C172634 | MONDO:equivalentTo | Skin Ewing Sarcoma | A rare Ewing sarcoma that arises from the skin. | MONDO:0018270|MONDO:0006414 | +| MONDO:0855377 | oxyntic gland adenoma | NCIT:C172655 | MONDO:equivalentTo | Oxyntic Gland Adenoma | A benign epithelial neoplasm composed of columnar cells with differentiation to chief cells, parietal cells, or both, with a high rate of progression to adenocarcinoma (submucosal invasion). (WHO 2019) | MONDO:0006221 | +| MONDO:0855378 | gastroblastoma | NCIT:C172659 | MONDO:equivalentTo | Gastroblastoma | A very rare biphasic tumor arising in the gastric muscularis propria (usually of the antrum), generally in boys and young men. It is associated with MALAT1-GLI1 gene fusion. (WHO 2019) | MONDO:0001056 | +| MONDO:0855386 | colorectal conventional adenoma | NCIT:C172680 | MONDO:equivalentTo | Colorectal Conventional Adenoma | A benign, premalignant colorectal neoplasm composed of dysplastic epithelium. The descriptor "conventional" distinguishes this from lesions in the serrated pathway. (WHO 2019) | MONDO:0005484 | +| MONDO:0855389 | colorectal poorly cohesive adenocarcinoma | NCIT:C172694 | MONDO:equivalentTo | Colorectal Poorly Cohesive Adenocarcinoma | An adenocarcinoma that arises from the colorectal mucosa and is characterized by the presence of isolated malignant cells or malignant cells that form small aggregates. | MONDO:0005008 | +| MONDO:0855390 | colorectal adenoma-like adenocarcinoma | NCIT:C172699 | MONDO:equivalentTo | Colorectal Adenoma-Like Adenocarcinoma | A well differentiated colorectal adenocarcinoma with good prognosis. It resembles a villous adenoma on the surface. | MONDO:0005008|MONDO:0003204 | +| MONDO:0855391 | inflammatory bowel disease-associated colorectal adenocarcinoma | NCIT:C172700 | MONDO:equivalentTo | Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma | A colorectal adenocarcinoma that develops in patients with a history of inflammatory bowel disease. | MONDO:0005008 | +| MONDO:0855393 | steatohepatitic hepatocellular carcinoma | NCIT:C172709 | MONDO:equivalentTo | Steatohepatitic Hepatocellular Carcinoma | Hepatocellular carcinoma characterized by the presence of steatohepatitis features, including macrovesicular steatosis, fibrosis, ballooning of malignant hepatocytes, Mallory bodies, and inflammation. | MONDO:0007256 | +| MONDO:0855394 | macrotrabecular massive hepatocellular carcinoma | NCIT:C172710 | MONDO:equivalentTo | Macrotrabecular Massive Hepatocellular Carcinoma | Hepatocellular carcinoma characterized by more than 50% growth of macrotrabecular pattern (equal to or more than 6 to 10 cells thick). It presents with higher grade and stage compared to conventional hepatocellular carcinoma. It has poor prognosis with early recurrence and poor overall survival. | MONDO:0007256 | +| MONDO:0855395 | chromophobe hepatocellular carcinoma | NCIT:C172712 | MONDO:equivalentTo | Chromophobe Hepatocellular Carcinoma | Hepatocellular carcinoma characterized by the presence of malignant cells with smooth chromophobic cytoplasm, abrupt focal nuclear anaplasia, and scattered microscopic pseudocysts. | MONDO:0007256 | +| MONDO:0855396 | neutrophil-rich hepatocellular carcinoma | NCIT:C172713 | MONDO:equivalentTo | Neutrophil-Rich Hepatocellular Carcinoma | Hepatocellular carcinoma characterized by the presence of diffuse neutrophil infiltrates within the tumor. | MONDO:0007256 | +| MONDO:0855397 | small hepatocellular carcinoma | NCIT:C172714 | MONDO:equivalentTo | Small Hepatocellular Carcinoma | Hepatocellular carcinoma measuring equal to or less than 2 cm in diameter. It includes early hepatocellular carcinoma and small progressed hepatocellular carcinoma. | MONDO:0007256 | +| MONDO:0855398 | liver mixed adenoneuroendocrine carcinoma | NCIT:C172718 | MONDO:equivalentTo | Liver Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the liver and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0006182|MONDO:0018531 | +| MONDO:0855401 | gallbladder pyloric gland adenoma | NCIT:C172731 | MONDO:equivalentTo | Gallbladder Pyloric Gland Adenoma | A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019) | MONDO:0006216 | +| MONDO:0855408 | pancreatic poorly cohesive adenocarcinoma | NCIT:C172811 | MONDO:equivalentTo | Pancreatic Poorly Cohesive Adenocarcinoma | An adenocarcinoma that arises from the pancreas and is characterized by the presence of isolated malignant cells or malignant cells that form small aggregates. | MONDO:0005184 | +| MONDO:0855409 | pancreatic undifferentiated carcinoma with rhabdoid cells | NCIT:C172812 | MONDO:equivalentTo | Pancreatic Undifferentiated Carcinoma with Rhabdoid Cells | An undifferentiated carcinoma that arises from the pancreas. It is characterized by the presence of rhabdoid cells. | MONDO:0006478 | +| MONDO:0855413 | conventional follicular dendritic cell sarcoma | NCIT:C172846 | MONDO:equivalentTo | Conventional Follicular Dendritic Cell Sarcoma | Follicular dendritic cell sarcoma that is not associated with Epstein-Barr virus. | MONDO:0005764 | +| MONDO:0855418 | digestive system soft tissue neoplasm | NCIT:C172852 | MONDO:equivalentTo | Digestive System Soft Tissue Neoplasm | A benign, intermediate, or malignant mesenchymal neoplasm that arises from the digestive system. | MONDO:0006424|MONDO:0021223 | +| MONDO:0855432 | sinonasal spindle cell squamous carcinoma | NCIT:C173079 | MONDO:equivalentTo | Sinonasal Spindle Cell Squamous Carcinoma | A poorly differentiated squamous cell carcinoma arising from the sinonasal tract. It is characterized by the presence of malignant cells with spindle cell features. | MONDO:0021663|MONDO:0044787 | +| MONDO:0855433 | sinonasal lymphoepithelial carcinoma | NCIT:C173080 | MONDO:equivalentTo | Sinonasal Lymphoepithelial Carcinoma | A nonkeratinizing squamous cell carcinoma arising from the sinonasal tract. It is characterized by the presence of large cells with vesicular nuclei and prominent nucleoli, a syncytial growth pattern, and a lymphoplasmacytic infiltrate. | MONDO:0002831|MONDO:0003572 | +| MONDO:0855435 | head and neck nut carcinoma | NCIT:C173087 | MONDO:equivalentTo | Head and Neck NUT Carcinoma | A highly aggressive, poorly differentiated carcinoma that arises from the head and neck. Most cases are in the nasal cavity and paranasal sinuses. It is characterized by mutations and rearrangement of the NUT gene. | MONDO:0005563|MONDO:0002038 | +| MONDO:0855439 | malignant sinonasal neoplasm | NCIT:C173097 | MONDO:equivalentTo | Malignant Sinonasal Neoplasm | A primary or metastatic malignant neoplasm involving the nasal cavity and paranasal sinuses. | MONDO:0056820|MONDO:0005627 | +| MONDO:0855471 | peritoneal implant | NCIT:C173164 | MONDO:equivalentTo | Peritoneal Implant | Deposits of borderline, malignant, and rarely benign tumors, usually from the ovary, on the peritoneal surface. | MONDO:0006901 | +| MONDO:0855472 | sinonasal ameloblastoma | NCIT:C173166 | MONDO:equivalentTo | Sinonasal Ameloblastoma | A locally aggressive, primarily gnathic (jaw) tumor with a high propensity for recurrence. It originates wholly within the sinonasal tract, without connection to gnathic sites, arising from sinonasal epithelium and showing histological features identical to those of its counterpart originating in the jaw. (WHO 2017) | MONDO:0056820 | +| MONDO:0855481 | microsatellite stable colorectal carcinoma | NCIT:C173324 | MONDO:equivalentTo | Microsatellite Stable Colorectal Carcinoma | Colorectal carcinoma characterized by the absence of microsatellite instability. | MONDO:0024331 | +| MONDO:0855487 | nasopharyngeal adenoid cystic carcinoma | NCIT:C173340 | MONDO:equivalentTo | Nasopharyngeal Adenoid Cystic Carcinoma | An adenoid cystic carcinoma that arises from the nasopharynx. | MONDO:0006367|MONDO:0015459 | +| MONDO:0855489 | ectopic pituitary neuroendocrine tumor | NCIT:C173345 | MONDO:equivalentTo | Ectopic Pituitary Neuroendocrine Tumor | A pituitary neuroendocrine tumor that does not involve the sella turcica. | MONDO:0006373 | +| MONDO:0855495 | cutaneous merkel cell carcinoma | NCIT:C173385 | MONDO:equivalentTo | Cutaneous Merkel Cell Carcinoma | A rare aggressive neuroendocrine carcinoma that arises from the skin and most often affects older individuals. It is usually located in the head, neck, and extremities. The tumor is composed of small round cells with scanty cytoplasm. Merkel cell polyomavirus is implicated in the majority of cases. | MONDO:0002656|MONDO:0019210 | +| MONDO:0855506 | laryngeal chondroma | NCIT:C173406 | MONDO:equivalentTo | Laryngeal Chondroma | A benign neoplasm arising from hyaline cartilage of the larynx. It is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. | MONDO:0002360|MONDO:0002354 | +| MONDO:0855507 | laryngeal chondrosarcoma | NCIT:C173407 | MONDO:equivalentTo | Laryngeal Chondrosarcoma | A chondrosarcoma that arises from hyaline cartilage of the larynx. | MONDO:0002448|MONDO:0008977 | +| MONDO:0855526 | head and neck melanocytic neoplasm | NCIT:C173488 | MONDO:equivalentTo | Head and Neck Melanocytic Neoplasm | A melanocytic neoplasm that arises from the skin or mucosal sites in the head and neck region. | MONDO:0021143|MONDO:0005586 | +| MONDO:0855532 | refractory primitive neuroectodermal tumor | NCIT:C173565 | MONDO:equivalentTo | Refractory Primitive Neuroectodermal Tumor | Primitive neuroectodermal tumor that does not respond to treatment. | MONDO:0005462|MONDO:0036501 | +| MONDO:0855540 | head and neck heterotopia-associated carcinoma | NCIT:C173588 | MONDO:equivalentTo | Head and Neck Heterotopia-Associated Carcinoma | A head and neck carcinoma arising from heterotopic tissue elements (i.e. histologically normal tissue of a particular type that is present at an abnormal anatomical site). (WHO 2017) | MONDO:0002038 | +| MONDO:0855551 | salivary gland poorly differentiated carcinoma | NCIT:C173649 | MONDO:equivalentTo | Salivary Gland Poorly Differentiated Carcinoma | A high-grade carcinoma that arises from the salivary glands. This category includes large and small cell types with or without neuroendocrine differentiation. | MONDO:0000521 | +| MONDO:0855553 | salivary gland lymphadenoma | NCIT:C173659 | MONDO:equivalentTo | Salivary Gland Lymphadenoma | A rare benign salivary gland tumor that consists of a well-circumscribed biphasic proliferation of epithelial cells and reactive lymphoid tissue. Sebaceous and non-sebaceous forms can be distinguished. (WHO 2017) | MONDO:0021460 | +| MONDO:0855558 | sialolipoma | NCIT:C173682 | MONDO:equivalentTo | Sialolipoma | A benign salivary gland neoplasm composed of mature adipose tissue and epithelial tissue. It usually occurs in the parotid gland. | MONDO:0021460 | +| MONDO:0855575 | appendix disorder | NCIT:C173799 | MONDO:equivalentTo | Appendix Disorder | A non-neoplastic or neoplastic disorder that affects the appendix. | | +| MONDO:0855576 | retroperitoneal undifferentiated pleomorphic sarcoma | NCIT:C173808 | MONDO:equivalentTo | Retroperitoneal Undifferentiated Pleomorphic Sarcoma | A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum. | MONDO:0001501|MONDO:0002142 | +| MONDO:0855577 | lung alveolar soft part sarcoma | NCIT:C173809 | MONDO:equivalentTo | Lung Alveolar Soft Part Sarcoma | An exceptionally rare alveolar soft part sarcoma that arises from the lung. | MONDO:0002426|MONDO:0011655 | +| MONDO:0855584 | maxillofacial neoplasm | NCIT:C173845 | MONDO:equivalentTo | Maxillofacial Neoplasm | A neoplasm that arises in a maxillofacial bone. | MONDO:0019060|MONDO:0024653 | +| MONDO:0855590 | craniofacial fibrous dysplasia | NCIT:C173926 | MONDO:equivalentTo | Craniofacial Fibrous Dysplasia | Fibrous dysplasia affecting the craniofacial bones. | MONDO:0000845 | +| MONDO:0855591 | benign head and neck neoplasm | NCIT:C173932 | MONDO:equivalentTo | Benign Head and Neck Neoplasm | A neoplasm that arises from the head and neck and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0005165|MONDO:0005586 | +| MONDO:0855593 | aggressive papillary tumor | NCIT:C174022 | MONDO:equivalentTo | Aggressive Papillary Tumor | A locally invasive, papillary epithelial neoplasm arising in any area of the middle ear, including the mastoid process and air cells, and may fill the tympanic cavity. It is characterized by the presence of a papillary glandular pattern, with complex interdigitating papillae lying loosely or infiltrating fibrous connective tissue. (WHO 2017) | MONDO:0021366|MONDO:0021096 | +| MONDO:0855594 | benign inner ear neoplasm | NCIT:C174023 | MONDO:equivalentTo | Benign Inner Ear Neoplasm | A neoplasm that arises from the inner ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include vestibular schwannoma and lipoma. | MONDO:0021474|MONDO:0024320 | +| MONDO:0855597 | malignant inner ear neoplasm | NCIT:C174026 | MONDO:equivalentTo | Malignant Inner Ear Neoplasm | A malignant neoplasm that affects the inner ear. | MONDO:0003277|MONDO:0024320 | +| MONDO:0855616 | conjunctival oncocytoma | NCIT:C174388 | MONDO:equivalentTo | Conjunctival Oncocytoma | A benign epithelial neoplasm that arises from the conjunctiva. It is characterized by the presence of oncocytic cells with abundant eosinophilic and granular cytoplasm. | MONDO:0010795|MONDO:0006105 | +| MONDO:0855617 | conjunctival keratoacanthoma | NCIT:C174390 | MONDO:equivalentTo | Conjunctival Keratoacanthoma | A rapidly growing neoplasm that arises from the conjunctiva. It is characterized by a proliferation of squamous cells, acanthosis, keratinization, dysplasia, increased mitotic activity, and a central crater filled with keratinocytes. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. | MONDO:0006173|MONDO:0002527 | +| MONDO:0855618 | conjunctival spindle cell carcinoma | NCIT:C174398 | MONDO:equivalentTo | Conjunctival Spindle Cell Carcinoma | A variant of conjunctival squamous cell carcinoma characterized by the presence of malignant spindle cells and/or pleomorphic cells. | MONDO:0006173|MONDO:0021663 | +| MONDO:0855620 | conjunctival carcinoma | NCIT:C174403 | MONDO:equivalentTo | Conjunctival Carcinoma | A carcinoma that arises from the conjunctiva. | MONDO:0002466|MONDO:0003454 | +| MONDO:0855625 | conjunctival subepithelial (stromal) nevus | NCIT:C174426 | MONDO:equivalentTo | Conjunctival Subepithelial (Stromal) Nevus | A conjunctival nevus characterized by an intrastromal proliferation of predominantly type B nevus cells. | MONDO:0006172 | +| MONDO:0855630 | conjunctival blue nevus | NCIT:C174452 | MONDO:equivalentTo | Conjunctival Blue Nevus | A benign melanocytic neoplasm that arises from the conjunctiva. It is characterized by the presence of dendritic and spindle-shaped melanocytes in the subepithelial connective tissue. It presents as a dark brown or black, slightly elevated conjunctival lesion. | MONDO:0006172 | +| MONDO:0855631 | atypical ewing sarcoma | NCIT:C174456 | MONDO:equivalentTo | Atypical Ewing Sarcoma | Ewing sarcoma characterized by the presence of large malignant cells with prominent nucleoli and irregular contours. | MONDO:0012817 | +| MONDO:0855633 | conjunctival spitz nevus | NCIT:C174493 | MONDO:equivalentTo | Conjunctival Spitz Nevus | A rare nevus that arises from the conjunctiva. It is characterized by the presence of large spindle-shaped or epithelioid melanocytes. | MONDO:0006172 | +| MONDO:0855634 | metastatic malignant neoplasm in the conjunctiva | NCIT:C174496 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Conjunctiva | A malignant neoplasm that has spread to the conjunctiva from another anatomic site. | MONDO:0044913|MONDO:0003454 | +| MONDO:0855635 | iris epithelioid cell melanoma | NCIT:C174498 | MONDO:equivalentTo | Iris Epithelioid Cell Melanoma | An iris melanoma characterized by the presence of malignant large epithelioid melanocytes. | MONDO:0004064|MONDO:0006200 | +| MONDO:0855640 | iris mixed epithelioid and spindle cell melanoma | NCIT:C174506 | MONDO:equivalentTo | Iris Mixed Epithelioid and Spindle Cell Melanoma | A melanoma arising from the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. | MONDO:0004064|MONDO:0003910 | +| MONDO:0855641 | metastatic malignant neoplasm in the uvea | NCIT:C174507 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Uvea | A malignant neoplasm that has spread to the uvea from another anatomic site. | MONDO:0002659|MONDO:0044913 | +| MONDO:0855646 | retinal astrocytoma | NCIT:C174539 | MONDO:equivalentTo | Retinal Astrocytoma | An astrocytoma that arises from the retina. It is often found in association with the tuberous sclerosis complex. | MONDO:0021231|MONDO:0024649 | +| MONDO:0855649 | adenoma of the retinal pigment epithelium | NCIT:C174550 | MONDO:equivalentTo | Adenoma of the Retinal Pigment Epithelium | A benign neoplasm that arises from the retinal pigment epithelium. It consists of cords and tubules of variably pigmented proliferating retinal pigment epithelium cells, separated by fibrous stroma. Malignant transformation is rare. (WHO 2018) | MONDO:0021453|MONDO:0004972 | +| MONDO:0855650 | retinal pigment epithelium adenocarcinoma | NCIT:C174551 | MONDO:equivalentTo | Retinal Pigment Epithelium Adenocarcinoma | An adenocarcinoma that arises from the retinal pigment epithelium. The prognosis is good if the tumor has not extended extraocularly. | MONDO:0002466|MONDO:0003072|MONDO:0004970 | +| MONDO:0855653 | ciliary body adenoma | NCIT:C174560 | MONDO:equivalentTo | Ciliary Body Adenoma | A benign neoplasm of the pigmented ciliary epithelium (pigmented epithelial adenoma) and/ or the non-pigmented ciliary epithelium (non-pigmented epithelial adenoma). (WHO 2018) | MONDO:0021486|MONDO:0004972 | +| MONDO:0855654 | ciliary body adenocarcinoma | NCIT:C174561 | MONDO:equivalentTo | Ciliary Body Adenocarcinoma | An adenocarcinoma arising from the pigmented or non-pigmented ciliary epithelium. | MONDO:0002466|MONDO:0002969|MONDO:0004970 | +| MONDO:0855667 | incidental gallbladder carcinoma | NCIT:C175214 | MONDO:equivalentTo | Incidental Gallbladder Carcinoma | Gallbladder carcinoma that is discovered incidental to gallbladder surgery for another indication. | MONDO:0003220 | +| MONDO:0855668 | metastatic malignant neoplasm in the regional lymph nodes | NCIT:C175222 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Regional Lymph Nodes | The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes. | MONDO:0005438 | +| MONDO:0855669 | lacrimal gland oncocytoma | NCIT:C175264 | MONDO:equivalentTo | Lacrimal Gland Oncocytoma | A benign epithelial neoplasm that arises from the lacrimal gland. It is characterized by the presence of oncocytic cells with abundant eosinophilic and granular cytoplasm. | MONDO:0010795|MONDO:0021488 | +| MONDO:0855671 | lacrimal gland myoepithelial carcinoma | NCIT:C175274 | MONDO:equivalentTo | Lacrimal Gland Myoepithelial Carcinoma | A carcinoma that arises from the lacrimal gland. It is characterized by the presence of a malignant cellular infiltrate exhibiting myoepithelial differentiation. | MONDO:0003158|MONDO:0002463 | +| MONDO:0855672 | lacrimal gland carcinosarcoma | NCIT:C175279 | MONDO:equivalentTo | Lacrimal Gland Carcinosarcoma | An aggressive, high grade malignant neoplasm that arises from the lacrimal gland. It is characterized by the presence of a malignant epithelial and a sarcomatous component. | MONDO:0002464|MONDO:0002928 | +| MONDO:0855673 | lacrimal gland epithelial-myoepithelial carcinoma | NCIT:C175288 | MONDO:equivalentTo | Lacrimal Gland Epithelial-Myoepithelial Carcinoma | A rare, slow-growing carcinoma that arises from the lacrimal gland. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells. | MONDO:0002463|MONDO:0003389 | +| MONDO:0855674 | lacrimal gland acinic cell carcinoma | NCIT:C175290 | MONDO:equivalentTo | Lacrimal Gland Acinic Cell Carcinoma | An extremely rare, low-grade, salivary gland-type carcinoma that arises from the lacrimal gland. It exhibits acinar differentiation. | MONDO:0002475|MONDO:0004965 | +| MONDO:0855675 | lacrimal gland warthin tumor | NCIT:C175291 | MONDO:equivalentTo | Lacrimal Gland Warthin Tumor | A rare benign tumor that arises from the lacrimal gland. It is characterized by an oncocytic epithelial component and dense lymphoid stroma. | MONDO:0021488|MONDO:0006493 | +| MONDO:0855677 | benign lacrimal system neoplasm | NCIT:C175307 | MONDO:equivalentTo | Benign Lacrimal System Neoplasm | A neoplasm that arises from the lacrimal gland or lacrimal drainage system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0002460|MONDO:0021454 | +| MONDO:0855678 | malignant lacrimal system neoplasm | NCIT:C175308 | MONDO:equivalentTo | Malignant Lacrimal System Neoplasm | A primary or metastatic malignant neoplasm affecting the lacrimal gland or the lacrimal drainage system. | MONDO:0002460|MONDO:0002236 | +| MONDO:0855679 | lacrimal drainage system neoplasm | NCIT:C175316 | MONDO:equivalentTo | Lacrimal Drainage System Neoplasm | A benign or malignant neoplasm that affects the lacrimal drainage system. | MONDO:0002460 | +| MONDO:0855684 | lacrimal drainage system non-keratinizing squamous cell carcinoma | NCIT:C175335 | MONDO:equivalentTo | Lacrimal Drainage System Non-Keratinizing Squamous Cell Carcinoma | A squamous cell carcinoma of the lacrimal drainage system characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. | MONDO:0003492 | +| MONDO:0855694 | conjunctival non-hodgkin lymphoma | NCIT:C175432 | MONDO:equivalentTo | Conjunctival Non-Hodgkin Lymphoma | A non-Hodgkin lymphoma that arises from the conjunctiva. | MONDO:0004034|MONDO:0003454 | +| MONDO:0855700 | primary uveal non-hodgkin lymphoma | NCIT:C175451 | MONDO:equivalentTo | Primary Uveal Non-Hodgkin Lymphoma | An indolent, low-grade B-cell non-Hodgkin lymphoma that arises from the choroid, iris, or ciliary body. It is characterized by the presence of a diffuse infiltrate of small, round lymphocytes. Lymphoid follicles with germinal centers may be present. In the past these tumors were termed 'reactive lymphoid hyperplasia'. Now they are considered low-grade B-cell lymphomas, most commonly extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue. | MONDO:0004351|MONDO:0002659|MONDO:0017594 | +| MONDO:0855708 | conjunctival myxoma | NCIT:C175495 | MONDO:equivalentTo | Conjunctival Myxoma | A rare myxoma arising from the bulbar conjunctiva. | MONDO:0044784|MONDO:0006105 | +| MONDO:0855710 | conjunctival hemangioma | NCIT:C175497 | MONDO:equivalentTo | Conjunctival Hemangioma | A hemangioma that arises from the conjunctiva. | MONDO:0006105|MONDO:0006500 | +| MONDO:0855711 | conjunctival lymphangioma | NCIT:C175498 | MONDO:equivalentTo | Conjunctival Lymphangioma | A lymphangioma that arises from the conjunctiva. | MONDO:0002013|MONDO:0006105 | +| MONDO:0855715 | conjunctival sarcoma | NCIT:C175502 | MONDO:equivalentTo | Conjunctival Sarcoma | A sarcoma that arises from the conjunctiva. | MONDO:0018078|MONDO:0003454 | +| MONDO:0855718 | malignant hypothalamic neoplasm | NCIT:C175539 | MONDO:equivalentTo | Malignant Hypothalamic Neoplasm | A primary or metastatic malignant neoplasm that affects the hypothalamus. | MONDO:0002786|MONDO:0006799 | +| MONDO:0855721 | breast polymorphous adenocarcinoma | NCIT:C175604 | MONDO:equivalentTo | Breast Polymorphous Adenocarcinoma | A rare, low grade malignant epithelial neoplasm arising from the breast. It is characterized by the presence of uniform, small to medium size malignant epithelial cells and an infiltrating pattern. | MONDO:0006256 | +| MONDO:0855722 | breast tall cell carcinoma with reversed polarity | NCIT:C175607 | MONDO:equivalentTo | Breast Tall Cell Carcinoma with Reversed Polarity | A rare subtype of invasive breast carcinoma characterized by tall columnar cells with reversed nuclear polarity, arranged in solid and solid papillary patterns, most commonly associated with IDH2 p.Arg172 hotspot mutations. (WHO 2019) | MONDO:0006256 | +| MONDO:0855725 | metastatic malignant glomus tumor | NCIT:C175662 | MONDO:equivalentTo | Metastatic Malignant Glomus Tumor | A malignant glomus tumor that has spread from its original site of growth to another anatomic site. | MONDO:0003340|MONDO:0024880 | +| MONDO:0855727 | locally invasive desmoid-type fibromatosis | NCIT:C175667 | MONDO:equivalentTo | Locally Invasive Desmoid-Type Fibromatosis | Desmoid-type fibromatosis that has invaded the surrounding tissues. | MONDO:0007608 | +| MONDO:0855734 | metastatic malignant neoplasm in the supraclavicular lymph nodes | NCIT:C175934 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Supraclavicular Lymph Nodes | The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes. | MONDO:0005438 | +| MONDO:0855737 | breast classic lobular carcinoma in situ | NCIT:C175949 | MONDO:equivalentTo | Breast Classic Lobular Carcinoma In Situ | Breast lobular carcinoma in situ characterized by the presence of dyscohesive proliferations of type A and/or type B epithelial cells. Type A cells are small cells with uniform hyperchromatic nuclei, whereas type B cells have slightly larger vesicular nuclei, with mild variability in size and shape and with small nucleoli. The cell populations may be mixed in individual proliferations. (WHO 2019) | MONDO:0006270 | +| MONDO:0855738 | breast florid lobular carcinoma in situ | NCIT:C175950 | MONDO:equivalentTo | Breast Florid Lobular Carcinoma In Situ | Breast lobular carcinoma in situ characterized by the presence of neoplastic cells with cytological features identical to classic lobular carcinoma in situ, but with marked distention of terminal ductal lobular units or ducts. | MONDO:0006270 | +| MONDO:0855740 | breast ductal carcinoma in situ, comedo type | NCIT:C176005 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Comedo Type | Breast ductal carcinoma in situ characterized by the presence of sheets of tumor cells with evidence of central necrosis and associated karyorrhectic/nuclear debris. | MONDO:0003575|MONDO:0005023 | +| MONDO:0855747 | ocular surface squamous neoplasia | NCIT:C176043 | MONDO:equivalentTo | Ocular Surface Squamous Neoplasia | An umbrella term that comprises the spectrum of squamous neoplasms of the conjunctiva, ranging from low-grade squamous intraepithelial neoplasia to invasive conjunctival squamous cell carcinoma. | MONDO:0020204 | +| MONDO:0855748 | breast cellular fibroadenoma | NCIT:C176045 | MONDO:equivalentTo | Breast Cellular Fibroadenoma | A fibroadenoma characterized by the presence of a pericanalicular growth pattern, increased stromal cellularity, and less than 2 mitoses per 10 high-power fields. | MONDO:0002056 | +| MONDO:0855749 | primary breast angiosarcoma | NCIT:C176251 | MONDO:equivalentTo | Primary Breast Angiosarcoma | An angiosarcoma that arises from the breast parenchyma and is not associated with radiation exposure. | MONDO:0003024 | +| MONDO:0855751 | breast angiolipoma | NCIT:C176255 | MONDO:equivalentTo | Breast Angiolipoma | An angiolipoma that arises from the breast. The majority are located in the subcutaneous tissue overlying the breast parenchyma, rather than in breast parenchyma. | MONDO:0000970|MONDO:0006085 | +| MONDO:0855753 | breast schwannoma | NCIT:C176414 | MONDO:equivalentTo | Breast Schwannoma | A schwannoma that arises from the breast. | MONDO:0000620|MONDO:0004820 | +| MONDO:0855754 | breast neurofibroma | NCIT:C176415 | MONDO:equivalentTo | Breast Neurofibroma | A neurofibroma that arises from the breast. | MONDO:0000620|MONDO:0016755 | +| MONDO:0855756 | synovial chondrosarcoma | NCIT:C176467 | MONDO:equivalentTo | Synovial Chondrosarcoma | An extremely rare chondrosarcoma arising from the synovium either as a de novo neoplasm or secondary to synovial chondromatosis. | MONDO:0018078|MONDO:0002403|MONDO:0008977 | +| MONDO:0855757 | male breast carcinoma in situ | NCIT:C176503 | MONDO:equivalentTo | Male Breast Carcinoma In Situ | A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the male breast. It includes the entire spectrum of carcinoma in situ observed in the female breast. It usually develops in the retroareolar region. | MONDO:0005628|MONDO:0004658 | +| MONDO:0855758 | invasive male breast carcinoma | NCIT:C176504 | MONDO:equivalentTo | Invasive Male Breast Carcinoma | A rare invasive carcinoma that arises from the male breast. Morphologically, it is similar to the invasive carcinomas that arise from the female breast. It usually develops in the retroareolar region. | MONDO:0006256|MONDO:0005628 | +| MONDO:0855763 | invasive female breast carcinoma | NCIT:C176579 | MONDO:equivalentTo | Invasive Female Breast Carcinoma | An invasive carcinoma that arises from the breast in females. | MONDO:0006256|MONDO:0004379 | +| MONDO:0855764 | female breast carcinoma in situ | NCIT:C176580 | MONDO:equivalentTo | Female Breast Carcinoma In Situ | A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the female breast. | MONDO:0004658|MONDO:0004379 | +| MONDO:0855783 | functioning lung neuroendocrine tumor | NCIT:C176705 | MONDO:equivalentTo | Functioning Lung Neuroendocrine Tumor | A lung neuroendocrine tumor that is associated with carcinoid syndrome. | MONDO:0021120|MONDO:0006041 | +| MONDO:0855784 | non-functioning lung neuroendocrine tumor | NCIT:C176706 | MONDO:equivalentTo | Non-Functioning Lung Neuroendocrine Tumor | A lung neuroendocrine tumor that is not associated with carcinoid syndrome. | MONDO:0021119|MONDO:0006041 | +| MONDO:0855809 | metastatic malignant thoracic neoplasm | NCIT:C176862 | MONDO:equivalentTo | Metastatic Malignant Thoracic Neoplasm | A malignant thoracic neoplasm that has spread from its original site of growth to another anatomic site. | MONDO:0024880|MONDO:0003274 | +| MONDO:0855811 | psammocarcinoma | NCIT:C176887 | MONDO:equivalentTo | Psammocarcinoma | An extremely rare variant of serous carcinoma arising from the ovary or peritoneum. It is characterized by extensive formation of psammoma bodies, low-grade cytological features, and invasion of surrounding structures. | MONDO:0004970 | +| MONDO:0855859 | infantile myofibromatosis 1 | NCIT:C176943 | MONDO:equivalentTo | Infantile Myofibromatosis 1 | A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the PDGFRB gene, encoding platelet-derived growth factor receptor beta. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. The lesions may be present at birth or become apparent in early infancy or even occasionally in adult life. | MONDO:0016824 | +| MONDO:0855860 | infantile myofibromatosis 2 | NCIT:C176944 | MONDO:equivalentTo | Infantile Myofibromatosis 2 | A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the NOTCH3 gene, encoding neurogenic locus notch homolog protein 3. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. Soft tissue lesions may regress spontaneously whereas visceral lesions are associated with high morbidity and mortality. | MONDO:0016824 | +| MONDO:0855861 | lipoma-like atypical lipomatous tumor/well differentiated liposarcoma | NCIT:C176979 | MONDO:equivalentTo | Lipoma-Like Atypical Lipomatous Tumor/Well Differentiated Liposarcoma | An atypical lipomatous tumor/well differentiated liposarcoma composed of mature adipocytes in which, unlike in benign lipoma, substantial variation in cell size is appreciated alongside nuclear atypia in fat cells or stromal spindle cells. (WHO 2020) | MONDO:0006097 | +| MONDO:0855862 | superficial atypical lipomatous tumor/well differentiated liposarcoma | NCIT:C176980 | MONDO:equivalentTo | Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma | An atypical lipomatous tumor/well differentiated liposarcoma that occurs in a superficial body structure. | MONDO:0006097 | +| MONDO:0855863 | atypical lipomatous tumor/well differentiated liposarcoma of deep soft tissue | NCIT:C176981 | MONDO:equivalentTo | Atypical Lipomatous Tumor/Well Differentiated Liposarcoma of Deep Soft Tissue | An atypical lipomatous tumor/well differentiated liposarcoma that occurs in deep soft tissue. | MONDO:0006097 | +| MONDO:0855864 | myxoid pleomorphic liposarcoma | NCIT:C176989 | MONDO:equivalentTo | Myxoid Pleomorphic Liposarcoma | An exceptionally rare, aggressive adipocytic neoplasm, typically occurring in children and adolescents. Myxoid pleomorphic liposarcoma shows mixed histological features of conventional myxoid liposarcoma and pleomorphic liposarcoma and lacks the gene fusions and amplifications of myxoid liposarcoma, atypical lipomatous tumor, and dedifferentiated liposarcoma. (WHO 2020) | MONDO:0005060 | +| MONDO:0855883 | plaque-like dermatofibrosarcoma protuberans | NCIT:C177325 | MONDO:equivalentTo | Plaque-Like Dermatofibrosarcoma Protuberans | A rare variant of dermatofibrosarcoma protuberans characterized by plaque-like growth, resembling plaque-like CD34-positive dermal fibroma. | MONDO:0011934 | +| MONDO:0855884 | somatic-type malignancy | NCIT:C177364 | MONDO:equivalentTo | Somatic-Type Malignancy | A malignant non-germ cell component that typically develops secondarily within a germ cell tumor. The malignant cellular component is usually sarcomatous or carcinomatous. | MONDO:0004992 | +| MONDO:0855885 | epithelioid myxofibrosarcoma | NCIT:C177414 | MONDO:equivalentTo | Epithelioid Myxofibrosarcoma | A rare subtype of myxofibrosarcoma composed predominantly of malignant epithelioid cells with abundant eosinophilic cytoplasm. | MONDO:0019202 | +| MONDO:0855891 | bladder flat urothelial carcinoma | NCIT:C177531 | MONDO:equivalentTo | Bladder Flat Urothelial Carcinoma | An in situ or invasive urothelial carcinoma that arises from the bladder wall and does not grow toward the hollow part of the bladder. | MONDO:0005611 | +| MONDO:0855897 | epithelioid hemangioendothelioma with wwtr1-camta1 gene fusion | NCIT:C177552 | MONDO:equivalentTo | Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion | Epithelioid hemangioendothelioma characterized by a t(1;3)(p36;q23-q25) translocation, resulting in a WWTR1-CAMTA1 gene fusion. This translocation and associated gene fusion occur in more than 90% of epithelioid hemangioendotheliomas. | MONDO:0015523 | +| MONDO:0855898 | epithelioid hemangioendothelioma with yap1-tfe3 gene fusion | NCIT:C177553 | MONDO:equivalentTo | Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion | Epithelioid hemangioendothelioma characterized by a YAP1-TFE3 gene fusion. This gene fusion occurs in a subset of epithelioid hemangioendotheliomas characterized by the presence of well-formed vessels lined by epithelioid endothelial cells with abundant eosinophilic cytoplasm. Patients with YAP1-TFE3 gene fusion tumors tend to be younger than those with a WWTR1-CAMTA1 gene fusion. | MONDO:0015523 | +| MONDO:0855909 | who grade 1 glioma | NCIT:C177797 | MONDO:equivalentTo | WHO Grade 1 Glioma | A category of low grade gliomas that includes subependymal giant cell astrocytoma, pilocytic astrocytoma, angiocentric glioma, and subependymoma. | MONDO:0021637 | +| MONDO:0855911 | poorly differentiated chordoma | NCIT:C177898 | MONDO:equivalentTo | Poorly Differentiated Chordoma | A rare, aggressive type of chordoma characterized by loss of SMARCB1 expression. It affects children and occasionally young adults. Females are affected twice as frequently as males. It usually arises in the axial skeleton. It is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. The prognosis is poor. | MONDO:0008978 | +| MONDO:0855914 | ebv-associated smooth muscle tumor | NCIT:C178217 | MONDO:equivalentTo | EBV-Associated Smooth Muscle Tumor | A rare smooth muscle neoplasm of uncertain biological potential. It is associated with Epstein-Barr virus infection and seen in patients with immunodeficiency, including primary immunodeficiency, HIV/AIDS infection, and post-transplant immunosuppression. | MONDO:0006975 | +| MONDO:0855915 | pleomorphic leiomyosarcoma | NCIT:C178220 | MONDO:equivalentTo | Pleomorphic Leiomyosarcoma | A leiomyosarcoma characterized by the presence of poorly differentiated areas with pleomorphic appearance, in addition to areas with typical morphologic features. | MONDO:0005058 | +| MONDO:0855916 | epithelioid schwannoma | NCIT:C178245 | MONDO:equivalentTo | Epithelioid Schwannoma | A schwannoma characterized by the presence of epithelioid cells with eosinophilic cytoplasm, within a myxoid and/or hyalinized stroma. | MONDO:0002546 | +| MONDO:0855929 | round cell sarcoma with ewsr1-non-ets fusion | NCIT:C178459 | MONDO:equivalentTo | Round Cell Sarcoma with EWSR1-non-ETS Fusion | A group of rare round and spindle cell sarcomas characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. This category includes EWSR1-NFATC2, EWSR1-PATZ1, and FUS-NFATC2 sarcomas. | MONDO:0006974 | +| MONDO:0855930 | sarcoma with bcor genetic alterations | NCIT:C178465 | MONDO:equivalentTo | Sarcoma with BCOR Genetic Alterations | A group of rare primitive round cell sarcomas characterized by the presence of BCOR genetic alterations. This category includes sarcomas with BCOR-related gene fusions, most frequently BCOR-CCNB3, and sarcomas showing internal tandem duplication (BCOR-ITD). | MONDO:0006974 | +| MONDO:0855935 | gastric melanoma | NCIT:C178519 | MONDO:equivalentTo | Gastric Melanoma | A melanoma that arises from mucosa of the stomach. | MONDO:0001056|MONDO:0045070 | +| MONDO:0855938 | yolk sac tumor with somatic-type malignancy | NCIT:C178523 | MONDO:equivalentTo | Yolk Sac Tumor with Somatic-Type Malignancy | A yolk sac tumor that is characterized by morphologic transformation to somatic-type malignancy. The somatic-type malignant component most often is sarcomatous or carcinomatous. | MONDO:0005744 | +| MONDO:0855939 | conventional chordoma | NCIT:C178563 | MONDO:equivalentTo | Conventional Chordoma | A malignant bone tumor arising from the remnants of the fetal notochord. It is characterized by the presence of large epithelioid cells with clear to light eosinophilic cytoplasm. Some of the cells are large with bubbly, vacuolated cytoplasm (physaliphorous cells). The cells form cords and nests that are embedded within an extracellular myxoid matrix. | MONDO:0008978 | +| MONDO:0855941 | bone langerhans cell histiocytosis | NCIT:C178607 | MONDO:equivalentTo | Bone Langerhans Cell Histiocytosis | Langerhans cell histiocytosis affecting the bone. | MONDO:0019060|MONDO:0018310 | +| MONDO:0855942 | bone erdheim-chester disease | NCIT:C178609 | MONDO:equivalentTo | Bone Erdheim-Chester Disease | Erdheim-Chester disease affecting the bone. | MONDO:0019060|MONDO:0018153 | +| MONDO:0855961 | b-cell lymphoproliferative disorder | NCIT:C179052 | MONDO:equivalentTo | B-Cell Lymphoproliferative Disorder | A non-neoplastic or neoplastic proliferation of B-lymphocytes. | | +| MONDO:0855962 | t/nk-cell lymphoproliferative disorder | NCIT:C179053 | MONDO:equivalentTo | T/NK-Cell Lymphoproliferative Disorder | A non-neoplastic or neoplastic proliferation of T-lymphocytes and/or NK-cells. | | +| MONDO:0855976 | ovarian signet ring cell carcinoma | NCIT:C179208 | MONDO:equivalentTo | Ovarian Signet Ring Cell Carcinoma | An extremely rare adenocarcinoma that arises from the ovary. It is characterized by the presence of signet ring malignant epithelial cells. | MONDO:0005092|MONDO:0002752 | +| MONDO:0855982 | myxoid glioneuronal tumor | NCIT:C179229 | MONDO:equivalentTo | Myxoid Glioneuronal Tumor | A rare, low-grade glioneuronal neoplasm characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum. It has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It has histologic features reminiscent of either dysembryoplastic neuroepithelial tumor or rosette-forming glioneuronal tumor. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. | MONDO:0016729 | +| MONDO:0855983 | borderline ovarian seromucinous tumor | NCIT:C179259 | MONDO:equivalentTo | Borderline Ovarian Seromucinous Tumor | A low grade ovarian epithelial neoplasm characterized by the presence of atypical neoplastic serous and mucinous cells. | MONDO:0016093|MONDO:0003811 | +| MONDO:0855987 | mesonephric-like adenocarcinoma | NCIT:C179320 | MONDO:equivalentTo | Mesonephric-Like Adenocarcinoma | An exceedingly rare adenocarcinoma that arises from the uterine corpus and ovary and displays mesonephric differentiation. Some tumors are thought to derive from mesonephric duct (Wolffian duct) remnants. Others may have a Mullerian duct lineage. | MONDO:0001416|MONDO:0004970 | +| MONDO:0855990 | ovarian dedifferentiated carcinoma | NCIT:C179334 | MONDO:equivalentTo | Ovarian Dedifferentiated Carcinoma | An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by the presence of an undifferentiated carcinomatous component and a second component of either endometrioid carcinoma or, rarely, serous carcinoma. | MONDO:0005140 | +| MONDO:0855991 | ovarian mixed cell adenocarcinoma | NCIT:C179339 | MONDO:equivalentTo | Ovarian Mixed Cell Adenocarcinoma | An adenocarcinoma that arises from the ovary and is characterized by the presence of two or more adenocarcinoma components, most often endometrioid and clear cell. | MONDO:0002752 | +| MONDO:0855993 | giant cell-rich osteosarcoma | NCIT:C179410 | MONDO:equivalentTo | Giant Cell-Rich Osteosarcoma | An exceedingly rare, high-grade variant of conventional osteosarcoma characterized by the presence of numerous osteoclast-like giant cells and variable amount of tumor osteoid. | MONDO:0002631 | +| MONDO:0855995 | unresectable plexiform neurofibroma | NCIT:C179423 | MONDO:equivalentTo | Unresectable Plexiform Neurofibroma | Plexiform neurofibroma that is not amenable to surgical resection. | MONDO:0003304 | +| MONDO:0855999 | ovarian neuroectodermal-type tumor | NCIT:C179474 | MONDO:equivalentTo | Ovarian Neuroectodermal-Type Tumor | A rare ovarian malignant tumor with neuroectodermal differentiation. It is characterized either by a small round cell proliferation or by neuronal or glial differentiation. | MONDO:0008170 | +| MONDO:0856000 | ovarian wolffian tumor | NCIT:C179548 | MONDO:equivalentTo | Ovarian Wolffian Tumor | An epithelial neoplasm of Wolffian (mesonephric) origin arising from the ovarian hilum. Most tumors behave in a benign fashion. | MONDO:0002229|MONDO:0004255 | +| MONDO:0856002 | her2-low breast carcinoma | NCIT:C179553 | MONDO:equivalentTo | HER2-Low Breast Carcinoma | A breast adenocarcinoma defined by low expression of HER2 (IHC1+ or IHC2+; FISH negative). | MONDO:0004988 | +| MONDO:0856003 | peritoneal calcifying fibrous tumor | NCIT:C179560 | MONDO:equivalentTo | Peritoneal Calcifying Fibrous Tumor | A benign well-circumscribed lesion arising from the mesentery. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications. | MONDO:0000650|MONDO:0006121 | +| MONDO:0856016 | basal ganglia neoplasm | NCIT:C179882 | MONDO:equivalentTo | Basal Ganglia Neoplasm | A benign or malignant neoplasm that affects the basal ganglia. | MONDO:0021374 | +| MONDO:0856017 | cerebellar peduncle neoplasm | NCIT:C179883 | MONDO:equivalentTo | Cerebellar Peduncle Neoplasm | A benign or malignant neoplasm that affects the cerebellar peduncle. | MONDO:0002913 | +| MONDO:0856018 | corpus callosum neoplasm | NCIT:C179884 | MONDO:equivalentTo | Corpus Callosum Neoplasm | A benign or malignant neoplasm that affects the corpus callosum. | MONDO:0021374 | +| MONDO:0856019 | oral cavity carcinoma cuniculatum | NCIT:C179894 | MONDO:equivalentTo | Oral Cavity Carcinoma Cuniculatum | A variant of well-differentiated squamous cell carcinoma arising from the oral cavity. It is characterized by the presence of minimal cytological atypia, multiple keratin-filled crypts, and intraepithelial neutrophils. | MONDO:0021538 | +| MONDO:0856021 | uterine ligament leiomyoma | NCIT:C179923 | MONDO:equivalentTo | Uterine Ligament Leiomyoma | A leiomyoma that arises from the broad or other uterine ligaments. | MONDO:0001572|MONDO:0020582 | +| MONDO:0856022 | uterine ligament adenomyoma | NCIT:C179925 | MONDO:equivalentTo | Uterine Ligament Adenomyoma | A benign neoplasm that arises from the broad or other uterine ligaments. It is characterized by the presence of a glandular and a mesenchymal component. | MONDO:0005635|MONDO:0020582 | +| MONDO:0856024 | uterine ligament wolffian tumor | NCIT:C179927 | MONDO:equivalentTo | Uterine Ligament Wolffian Tumor | An epithelial neoplasm of Wolffian (mesonephric) origin arising from a uterine ligament. Most tumors behave in a benign fashion. | MONDO:0004255|MONDO:0021629 | +| MONDO:0856025 | uterine ligament ependymoma | NCIT:C179928 | MONDO:equivalentTo | Uterine Ligament Ependymoma | A rare neoplasm that arises from the broad or other uterine ligaments and shows ependymal differentiation. | MONDO:0021629 | +| MONDO:0856026 | broad ligament neoplasm | NCIT:C179931 | MONDO:equivalentTo | Broad Ligament Neoplasm | A benign, borderline, or malignant neoplasm that affects the broad ligament. | MONDO:0021629 | +| MONDO:0856027 | microsatellite stable ovarian carcinoma | NCIT:C180332 | MONDO:equivalentTo | Microsatellite Stable Ovarian Carcinoma | Ovarian carcinoma characterized by the absence of microsatellite instability. | MONDO:0005140 | +| MONDO:0856028 | microsatellite stable endometrial carcinoma | NCIT:C180335 | MONDO:equivalentTo | Microsatellite Stable Endometrial Carcinoma | Endometrial carcinoma characterized by the absence of microsatellite instability. | MONDO:0002447 | +| MONDO:0856030 | polymorphous low grade neuroepithelial tumor of the young | NCIT:C180378 | MONDO:equivalentTo | Polymorphous Low Grade Neuroepithelial Tumor of the Young | A low-grade cerebral tumor associated with seizures and in many cases refractory epilepsy. It usually occurs in the second and third decades of life. It is characterized by the presence of oligodendroglioma-like components. It may also contain astrocytic components. MAPK pathway-activating genetic alterations play a role in the development of this tumor. Causative gene alterations include mutations resulting in the expression of BRAF p.V600E and gene fusions involving FGFR2 or FGFR3 genes. IDH gene mutations and 1p/19q codeletion are not present. | MONDO:0016729|MONDO:0021632 | +| MONDO:0856033 | tectal glioma | NCIT:C180407 | MONDO:equivalentTo | Tectal Glioma | A glioma that arises from the tectum mesenchephali. | MONDO:0021042 | +| MONDO:0856035 | pole-ultramutated endometrial endometrioid adenocarcinoma | NCIT:C180512 | MONDO:equivalentTo | POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma | An endometrial endometrioid adenocarcinoma characterized by mutations in the exonuclease domain of the DNA polymerase epsilon (POLE) gene that result in an ultra-mutated tumor phenotype. | MONDO:0006192 | +| MONDO:0856036 | mismatch repair-deficient endometrial endometrioid adenocarcinoma | NCIT:C180514 | MONDO:equivalentTo | Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma | An endometrial endometrioid adenocarcinoma characterized by mismatch repair (MMR) deficiency caused by inactivating methylation or less frequently mutation of an MMR gene (MLH1, PMS2, MSH2, or MSH6). | MONDO:0006192 | +| MONDO:0856037 | p53-mutant endometrial endometrioid adenocarcinoma | NCIT:C180515 | MONDO:equivalentTo | p53-Mutant Endometrial Endometrioid Adenocarcinoma | An endometrial endometrioid adenocarcinoma characterized by the presence of p53 gene mutations. | MONDO:0006192 | +| MONDO:0856038 | no specific molecular profile endometrial endometrioid adenocarcinoma | NCIT:C180516 | MONDO:equivalentTo | No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma | An endometrial endometrioid adenocarcinoma characterized by the absence of POLE gene mutations, mismatch repair (MMR) deficiency, and p53 gene mutations. | MONDO:0006192 | +| MONDO:0856040 | dysembryoplastic neuroepithelial-like tumor of the septum pellucidum | NCIT:C180532 | MONDO:equivalentTo | Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum | A very rare, low-grade midline brain neoplasm that affects the septum pellucidum. It is characterized by similar histological features to those found in dysembryoplastic neuroepithelial tumor, but does not display multinodularity. It usually manifests with symptoms related to increased intracranial pressure. Epilepsy has been reported in approximately one third of patients. PDGFRA gene mutations have been identified in the majority of patients. Alterations in FGFR1 and NF1 genes have also been reported. BRAF mutations which represent the most common molecular alteration found in cortical dysembryoplastic neuroepithelial tumor, were absent in this rare group of midline tumors. | MONDO:0016729 | +| MONDO:0856041 | endometrial mucinous adenocarcinoma, intestinal-type | NCIT:C180536 | MONDO:equivalentTo | Endometrial Mucinous Adenocarcinoma, Intestinal-Type | A rare mucinous adenocarcinoma arising from intestinal metaplasia of the endometrium. | MONDO:0005461|MONDO:0006254 | +| MONDO:0856042 | endometrial mucinous adenocarcinoma, gastric-type | NCIT:C180537 | MONDO:equivalentTo | Endometrial Mucinous Adenocarcinoma, Gastric-Type | A rare mucinous adenocarcinoma arising from gastric metaplasia of the endometrium. | MONDO:0005461 | +| MONDO:0856044 | uterine corpus central primitive neuroectodermal tumor | NCIT:C180546 | MONDO:equivalentTo | Uterine Corpus Central Primitive Neuroectodermal Tumor | A rare uterine corpus malignant small round cell tumor with neuroglial differentiation. The prognosis is poor. | MONDO:0005210|MONDO:0006974 | +| MONDO:0856048 | urothelial carcinoma, high grade | NCIT:C180606 | MONDO:equivalentTo | Urothelial Carcinoma, High Grade | Urothelial carcinoma characterized by the presence of neoplastic epithelial cells with high grade features. | MONDO:0040679 | +| MONDO:0856052 | gestational trophoblastic disorder | NCIT:C180633 | MONDO:equivalentTo | Gestational Trophoblastic Disorder | A group of pregnancy-related proliferative disorders. It includes non-neoplastic disorders (complete hydatidiform mole, partial hydatidiform mole, placental site nodule and plaque, and exaggerated placental site reaction) and neoplasms (invasive hydatidiform mole and trophoblastic tumors). Trophoblastic tumors include gestational choriocarcinoma, epithelioid trophoblastic tumor, placental-site trophoblastic tumor, and mixed trophoblastic tumor. | | +| MONDO:0856053 | mixed trophoblastic tumor | NCIT:C180634 | MONDO:equivalentTo | Mixed Trophoblastic Tumor | A gestational trophoblastic tumor characterized by the presence of two or three histological types of gestational trophoblastic tumor, including choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. | MONDO:0018944 | +| MONDO:0856054 | metastatic hydatidiform mole | NCIT:C180635 | MONDO:equivalentTo | Metastatic Hydatidiform Mole | The spread of abnormal molar chorionic villi from an invasive hydatidiform mole in the uterine cavity to other anatomic sites, usually the vaginal wall and pelvis. | MONDO:0020549 | +| MONDO:0856055 | low grade papillary schneiderian carcinoma | NCIT:C180670 | MONDO:equivalentTo | Low Grade Papillary Schneiderian Carcinoma | A rare sinonasal carcinoma characterized by the presence of a papillary architecture and bland morphological features similar to the Schneiderian papilloma, a pushing pattern of stromal invasion, and an increased risk of local recurrence. | MONDO:0056819 | +| MONDO:0856057 | cervical squamous cell carcinoma, not otherwise specified | NCIT:C180839 | MONDO:equivalentTo | Cervical Squamous Cell Carcinoma, Not Otherwise Specified | Cervical squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available. | MONDO:0006143 | +| MONDO:0856060 | human papillomavirus-independent cervical adenocarcinoma | NCIT:C180848 | MONDO:equivalentTo | Human Papillomavirus-Independent Cervical Adenocarcinoma | Cervical adenocarcinoma not associated with human papillomavirus infection. | MONDO:0005153 | +| MONDO:0856067 | cervical adenocarcinoma, not otherwise specified | NCIT:C180870 | MONDO:equivalentTo | Cervical Adenocarcinoma, Not Otherwise Specified | A cervical adenocarcinoma that cannot be classified by WHO criteria or International Endocervical Adenocarcinoma Criteria and Classification (IECC). | MONDO:0005153 | +| MONDO:0856070 | cervical mucoepidermoid carcinoma | NCIT:C180878 | MONDO:equivalentTo | Cervical Mucoepidermoid Carcinoma | A rare carcinoma that arises from the cervix. It is characterized by the presence of squamous cells, mucus producing cells, and cells of intermediate type. | MONDO:0005131|MONDO:0003036 | +| MONDO:0856071 | cervical germ cell tumor | NCIT:C180879 | MONDO:equivalentTo | Cervical Germ Cell Tumor | A rare germ cell tumor that arises from the cervix. Examples include mature cystic teratoma, yolk sac tumor, and choriocarcinoma. | MONDO:0005040|MONDO:0021230 | +| MONDO:0856072 | minor salivary gland intraductal papillary neoplasm | NCIT:C180880 | MONDO:equivalentTo | Minor Salivary Gland Intraductal Papillary Neoplasm | A rare papillary neoplasm that grows within and is limited to the duct system of the minor salivary glands. This category includes papillary cystadenoma, ductal papilloma (including the intraductal and inverted variants), sialadenoma papilliferum, and intraductal papillary mucinous neoplasm. | MONDO:0021370 | +| MONDO:0856074 | adult myofibroma | NCIT:C180888 | MONDO:equivalentTo | Adult Myofibroma | A rare myofibroma that occurs in adults. | MONDO:0006312 | +| MONDO:0856077 | human papillomavirus-related vaginal squamous cell carcinoma | NCIT:C180917 | MONDO:equivalentTo | Human Papillomavirus-Related Vaginal Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the vagina and is caused by human papillomavirus infection. | MONDO:0020657|MONDO:0006490 | +| MONDO:0856083 | vaginal adenocarcinoma of skene gland origin | NCIT:C180947 | MONDO:equivalentTo | Vaginal Adenocarcinoma of Skene Gland Origin | A rare vaginal adenocarcinoma arising from the Skene gland. It is characterized by morphological and immunohistochemical features similar to prostate adenocarcinoma. | MONDO:0020653|MONDO:0004173 | +| MONDO:0856100 | hybrid salivary gland tumor | NCIT:C181078 | MONDO:equivalentTo | Hybrid Salivary Gland Tumor | A rare neoplasm that arises from the salivary gland and consists of at least two histologically distinct types of tumor within the same topographic location. The tumor components can be either benign or malignant. | MONDO:0021043|MONDO:0021357 | +| MONDO:0856104 | eyelid basal cell carcinoma | NCIT:C181159 | MONDO:equivalentTo | Eyelid Basal Cell Carcinoma | A basal cell carcinoma that arises from the eyelid. | MONDO:0003876|MONDO:0005341 | +| MONDO:0856106 | major salivary gland squamous cell carcinoma | NCIT:C181161 | MONDO:equivalentTo | Major Salivary Gland Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the parotid or submandibular gland. | MONDO:0044740|MONDO:0006284 | +| MONDO:0856110 | lung rhabdomyosarcoma | NCIT:C181201 | MONDO:equivalentTo | Lung Rhabdomyosarcoma | A rare rhabdomyosarcoma that arises from the lung. | MONDO:0002426|MONDO:0005212 | +| MONDO:0856111 | lung hodgkin lymphoma | NCIT:C181205 | MONDO:equivalentTo | Lung Hodgkin Lymphoma | A rare Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. | MONDO:0003987|MONDO:0004952 | +| MONDO:0856112 | primary bone hodgkin lymphoma | NCIT:C181207 | MONDO:equivalentTo | Primary Bone Hodgkin Lymphoma | An exceedingly rare Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. | MONDO:0004952|MONDO:0017814 | +| MONDO:0856114 | cervical cancer by ajcc v9 stage | NCIT:C181562 | MONDO:equivalentTo | Cervical Cancer by AJCC v9 Stage | A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 9th edition. This staging system applies to carcinomas and carcinosarcomas. It does not apply to sarcomas, lymphomas, and melanomas. Sarcomas are staged according to the corpus uteri classification for sarcomas. Lymphomas are staged according to Hodgkin and non-Hodgkin lymphoma classification. Melanomas are not staged. (from AJCC 9th Ed.) | MONDO:0005131 | +| MONDO:0856117 | epiglottic squamous cell carcinoma | NCIT:C181714 | MONDO:equivalentTo | Epiglottic Squamous Cell Carcinoma | A squamous cell carcinoma of the larynx that arises from the epiglottis. | MONDO:0004293|MONDO:0004473 | +| MONDO:0856124 | vulvar squamous cell carcinoma, not otherwise specified | NCIT:C181902 | MONDO:equivalentTo | Vulvar Squamous Cell Carcinoma, Not Otherwise Specified | Vulvar squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available. | MONDO:0024609 | +| MONDO:0856128 | endometrial mucosa-associated lymphoid tissue lymphoma | NCIT:C181910 | MONDO:equivalentTo | Endometrial Mucosa-Associated Lymphoid Tissue Lymphoma | A rare extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue affecting the endometrium. | MONDO:0007650|MONDO:0011962 | +| MONDO:0856134 | vulvar kaposi sarcoma | NCIT:C181938 | MONDO:equivalentTo | Vulvar Kaposi Sarcoma | A Kaposi sarcoma arising from the vulva. | MONDO:0005055|MONDO:0005214 | +| MONDO:0856136 | vulvar rhabdomyosarcoma | NCIT:C181944 | MONDO:equivalentTo | Vulvar Rhabdomyosarcoma | A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vulva. | MONDO:0005214|MONDO:0005212 | +| MONDO:0856137 | vulvar epithelioid sarcoma | NCIT:C181971 | MONDO:equivalentTo | Vulvar Epithelioid Sarcoma | An epithelioid sarcoma that arises from the vulva. | MONDO:0005214|MONDO:0017387 | +| MONDO:0856139 | vulvar ewing sarcoma | NCIT:C181977 | MONDO:equivalentTo | Vulvar Ewing Sarcoma | Ewing sarcoma arising from the vulva. | MONDO:0018270|MONDO:0005214 | +| MONDO:0856154 | bronchiolar adenoma/ciliated muconodular papillary tumor | NCIT:C183045 | MONDO:equivalentTo | Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor | A rare, benign, circumscribed nodule arising from the bronchioles. It is usually seen in middle-aged to elderly patients. It is characterized by the presence a two-layer cellular structure composed of a basal and luminal layer. | MONDO:0003422 | +| MONDO:0856155 | invasive lung non-mucinous adenocarcinoma | NCIT:C183109 | MONDO:equivalentTo | Invasive Lung Non-Mucinous Adenocarcinoma | An invasive adenocarcinoma that arises from the lung. It is characterized by the absence of tall columnar cells and mucin production. This category includes lepidic adenocarcinoma, acinar adenocarcinoma, papillary adenocarcinoma, micropapillary adenocarcinoma, and solid adenocarcinoma. | MONDO:0040677|MONDO:0005061 | +| MONDO:0856156 | thoracic smarca4-deficient undifferentiated tumor | NCIT:C183115 | MONDO:equivalentTo | Thoracic SMARCA4-Deficient Undifferentiated Tumor | An aggressive, high-grade malignant neoplasm characterized by biallelic inactivation of SMARCA4 gene. It affects adults, usually heavy smokers, and involves the thorax (lung, pulmonary hilum, mediastinum, and/or pleura) with or without chest wall invasion. It is composed of sheets of malignant large round to epithelioid cells. Rhabdoid cells may be present. Increased number of mitoses and necrosis are frequently seen. The prognosis is poor. | MONDO:0003274 | +| MONDO:0856158 | lung intravascular large b-cell lymphoma | NCIT:C183121 | MONDO:equivalentTo | Lung Intravascular Large B-Cell Lymphoma | An aggressive extranodal B-cell non-Hodgkin lymphoma that affects the lung. It is characterized by the presence of large neoplastic lymphocytes exclusively in the lumina of small vessels, particularly capillaries. | MONDO:0020324|MONDO:0006387 | +| MONDO:0856161 | pleural mesothelioma in situ | NCIT:C183134 | MONDO:equivalentTo | Pleural Mesothelioma In Situ | A non-invasive mesothelial neoplasm that arises from the pleura. It is characterized by the proliferation of a single-layer of flat or cuboidal neoplastic mesothelial cells. Cytological atypia is absent or minimal. Mitoses are absent. BAP1 gene inactivation and/or CDKN2A gene homozygous deletion are present. Patients present with non-resolving pleural effusion. It may progress to invasive epithelioid mesothelioma. | MONDO:0003308 | +| MONDO:0856165 | cardiac diffuse large b-cell lymphoma | NCIT:C183146 | MONDO:equivalentTo | Cardiac Diffuse Large B-Cell Lymphoma | A diffuse large B-cell lymphoma that arises from the heart. | MONDO:0003917|MONDO:0018905 | +| MONDO:0856172 | pleural calcifying fibrous tumor | NCIT:C183277 | MONDO:equivalentTo | Pleural Calcifying Fibrous Tumor | A rare, benign, well-circumscribed lesion arising from the pleura. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, and dystrophic calcifications. Patients may present with chest pain, dyspnea, cough, or may be asymptomatic. | MONDO:0006121|MONDO:0021457 | +| MONDO:0856178 | thymic carcinoma with adenoid cystic carcinoma-like features | NCIT:C183313 | MONDO:equivalentTo | Thymic Carcinoma with Adenoid Cystic Carcinoma-Like Features | A very rare primary thymic carcinoma that resembles adenoid cystic carcinoma of the salivary gland. | MONDO:0006451 | +| MONDO:0856179 | thymic enteric-type adenocarcinoma | NCIT:C183314 | MONDO:equivalentTo | Thymic Enteric-Type Adenocarcinoma | A primary thymic adenocarcinoma characterized by morphological and immunohistochemical features seen in colorectal adenocarcinoma. | MONDO:0003209|MONDO:0006254 | +| MONDO:0856180 | thymic adenocarcinoma, not otherwise specified | NCIT:C183315 | MONDO:equivalentTo | Thymic Adenocarcinoma, Not Otherwise Specified | A primary thymic adenocarcinoma that does not conform to either low-grade papillary adenocarcinoma or enteric-type adenocarcinoma. | MONDO:0003209 | +| MONDO:0856181 | thymic carcinoma, not otherwise specified | NCIT:C183316 | MONDO:equivalentTo | Thymic Carcinoma, Not Otherwise Specified | A primary thymic carcinoma that cannot be defined as one of the thymic carcinomas with specific morphologic characteristics. | MONDO:0006451 | +| MONDO:0856182 | mediastinal follicular dendritic cell sarcoma | NCIT:C183374 | MONDO:equivalentTo | Mediastinal Follicular Dendritic Cell Sarcoma | A rare follicular dendritic cell sarcoma that affects the structures of the mediastinum. | MONDO:0005764|MONDO:0005843 | +| MONDO:0856183 | metastatic malignant neoplasm in the mediastinal lymph nodes | NCIT:C183510 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Mediastinal Lymph Nodes | The spread of a malignant neoplasm to the mediastinal lymph nodes from an adjacent or distant anatomic site. | MONDO:0005438 | +| MONDO:0856191 | salivary gland adenoma | NCIT:C184295 | MONDO:equivalentTo | Salivary Gland Adenoma | A benign adenoma that arises from the salivary gland. This group includes pleomorphic adenoma, canalicular adenoma, basal cell adenoma, and sebaceous adenoma. | MONDO:0021460|MONDO:0004972 | +| MONDO:0856197 | multiple solitary plasmacytoma of bone | NCIT:C185035 | MONDO:equivalentTo | Multiple Solitary Plasmacytoma of Bone | The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma. | MONDO:0002755 | +| MONDO:0856199 | splenic plasmacytoma | NCIT:C185041 | MONDO:equivalentTo | Splenic Plasmacytoma | A plasmacytoma that arises in the spleen. | MONDO:0002754|MONDO:0005966 | +| MONDO:0856204 | extramedullary disease in multiple myeloma | NCIT:C185149 | MONDO:equivalentTo | Extramedullary Disease in Multiple Myeloma | Infiltration of organs and soft tissues by malignant (clonal) plasma cells in patients with history of multiple myeloma. Skin, liver, lymph nodes, pleura, and central nervous system are the most frequently affected sites. | MONDO:0009693 | +| MONDO:0856206 | astrocytoma, idh-mutant | NCIT:C185167 | MONDO:equivalentTo | Astrocytoma, IDH-Mutant | An astrocytoma associated with IDH1 or IDH2 gene mutations and absence of 1p/19q codeletion. It is classified as grade 2, 3, or 4. | MONDO:0019781 | +| MONDO:0856207 | astrocytoma, idh-wildtype | NCIT:C185184 | MONDO:equivalentTo | Astrocytoma, IDH-Wildtype | Astrocytoma lacking mutations in IDH1 or IDH2 genes. It includes diffuse astrocytoma, IDH-wildtype and anaplastic astrocytoma, IDH-wildtype. | MONDO:0019781 | +| MONDO:0856208 | astrocytoma, not otherwise specified | NCIT:C185185 | MONDO:equivalentTo | Astrocytoma, Not Otherwise Specified | A central nervous system tumor with morphological features of astrocytoma in which there is insufficient information on the IDH genes status. | MONDO:0019781 | +| MONDO:0856216 | extranodal lymphoma | NCIT:C185752 | MONDO:equivalentTo | Extranodal Lymphoma | A non-Hodgkin or Hodgkin lymphoma that arises from an anatomic site other than a lymph node. | MONDO:0017207 | +| MONDO:0856218 | high grade astrocytoma with piloid features | NCIT:C185879 | MONDO:equivalentTo | High Grade Astrocytoma with Piloid Features | An astrocytoma characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. Alterations in the following three pathways are responsible for the pathogenesis of this tumor: MAPK pathway, retinoblastoma tumor suppressor protein cell-cycle pathway, and telomere maintenance pathway. | MONDO:0016684 | +| MONDO:0856232 | spinal cord ependymoma, mycn amplified | NCIT:C186494 | MONDO:equivalentTo | Spinal Cord Ependymoma, MYCN Amplified | A rare, aggressive ependymoma that arises from the spinal cord. It displays microvascular proliferation, necrosis, and high mitotic rate. It is characterized by high-level MYCN amplification. Cytogenetic abnormalities include loss of chromosome 10 and focal losses on chromosome 11q. The prognosis is poor. | MONDO:0002542|MONDO:0016698 | +| MONDO:0856233 | childhood spinal cord ependymoma | NCIT:C186495 | MONDO:equivalentTo | Childhood Spinal Cord Ependymoma | An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children. | MONDO:0002716|MONDO:0003478|MONDO:0003473 | +| MONDO:0856234 | central nervous system neuroblastoma, foxr2-activated | NCIT:C186547 | MONDO:equivalentTo | Central Nervous System Neuroblastoma, FOXR2-Activated | A rare central nervous system neoplasm with neuroblastic and/or neuronal differentiation. It is characterized by the presence of structural rearrangements of FOXR2 gene that result in the activation of the transcription factor FOXR2. | MONDO:0002900 | +| MONDO:0856238 | primary intracranial sarcoma, dicer1-mutant | NCIT:C186610 | MONDO:equivalentTo | Primary Intracranial Sarcoma, DICER1-Mutant | A primary intracranial sarcoma composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. | MONDO:0002216 | +| MONDO:0856239 | central nervous system ewing sarcoma | NCIT:C186611 | MONDO:equivalentTo | Central Nervous System Ewing Sarcoma | Ewing sarcoma that arises in the central nervous system. | MONDO:0018270|MONDO:0002217|MONDO:0016713 | +| MONDO:0856240 | intracranial mesenchymal tumor, fet-creb fusion-positive | NCIT:C186614 | MONDO:equivalentTo | Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive | A provisional entity that refers to a group of neoplasms with a broad morphological spectrum, characterized by fusion of a FET family gene (usually EWSR1 and rarely FUS) with a member of the CREB family of transcription factors (CREB1, ATF1, or CREM). It includes entities previously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. It is usually located in the supratentorial brain and mostly affects children and young adults. There is a spectrum of clinical behaviors ranging from slowly growing tumors to rapid recurrences, and rarely metastases. | MONDO:0003244|MONDO:0021632 | +| MONDO:0856241 | cervical cancer by figo stage 2009 | NCIT:C186619 | MONDO:equivalentTo | Cervical Cancer by FIGO Stage 2009 | A term that refers to the staging of cervical cancer according to the International Federation of Gynecology and Obstetrics (FIGO) staging, 2009. | MONDO:0005131 | +| MONDO:0856244 | central nervous system lymphomatoid granulomatosis | NCIT:C186662 | MONDO:equivalentTo | Central Nervous System Lymphomatoid Granulomatosis | Lymphomatoid granulomatosis that affects the brain, spinal cord, and leptomeninges. | MONDO:0019466|MONDO:0003641 | +| MONDO:0856246 | smarcb1 schwannomatosis 1 | NCIT:C186703 | MONDO:equivalentTo | SMARCB1 Schwannomatosis 1 | Schwannomatosis caused by germline mutations in the SMARCB1 gene. | MONDO:0008075 | +| MONDO:0856247 | lztr1 schwannomatosis 2 | NCIT:C186704 | MONDO:equivalentTo | LZTR1 Schwannomatosis 2 | Schwannomatosis caused by germline mutations in the LZTR1 gene. | MONDO:0008075 | +| MONDO:0856253 | childhood acute leukemia | NCIT:C187056 | MONDO:equivalentTo | Childhood Acute Leukemia | An acute leukemia that occurs during childhood. | MONDO:0010643|MONDO:0004355 | +| MONDO:0856254 | pituitary neuroendocrine tumor of pit1-lineage | NCIT:C187086 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor of PIT1-Lineage | A pituitary neuroendocrine tumor arising from PIT1-lineage adenohypophysial cells. | MONDO:0006373 | +| MONDO:0856255 | pituitary neuroendocrine tumor of tpit-lineage | NCIT:C187087 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor of TPIT-Lineage | A pituitary neuroendocrine tumor arising from TPIT-lineage adenohypophysial cells. | MONDO:0006373 | +| MONDO:0856256 | pituitary neuroendocrine tumor of sf1-lineage | NCIT:C187088 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor of SF1-Lineage | A pituitary neuroendocrine tumor arising from SF1-lineage adenohypophysial cells. | MONDO:0006373 | +| MONDO:0856257 | pituitary neuroendocrine tumor without distinct lineage differentiation | NCIT:C187096 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation | A pituitary neuroendocrine tumor that belongs to more than one adenohypophysial cell lineage or does not show evidence of adenohypophysial hormonal immunoreactivity and specific adenohypophysial cell derivation. | MONDO:0006373 | +| MONDO:0856258 | pituitary neuroendocrine tumor, not otherwise specified | NCIT:C187135 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor, Not Otherwise Specified | A pituitary neuroendocrine tumor in which further characterization regarding subtyping is not available. | MONDO:0006373 | +| MONDO:0856267 | thyroid gland follicular adenoma with papillary architecture | NCIT:C187261 | MONDO:equivalentTo | Thyroid Gland Follicular Adenoma with Papillary Architecture | A benign, encapsulated thyroid gland neoplasm characterized by the presence of large follicles with intrafollicular papillary architecture. The cells lining the papillae are usually columnar. It is usually a cystic neoplasm and lacks nuclear atypia and capsular invasion. Psammoma bodies are not present. Activating TSHR mutations have been described in the majority of cases. In a small number of cases GNAS mutations have been identified. | MONDO:0005032 | +| MONDO:0856268 | low risk thyroid gland neoplasm | NCIT:C187273 | MONDO:equivalentTo | Low Risk Thyroid Gland Neoplasm | A thyroid gland neoplasm in which the incidence of metastatic spread is extremely low. This category includes thyroid gland noninvasive follicular neoplasm with papillary-like nuclear features, thyroid gland hyalinizing trabecular tumor, and thyroid gland tumors of uncertain malignant potential. | MONDO:0015074 | +| MONDO:0856272 | invasive breast lobular carcinoma with extracellular mucin | NCIT:C187405 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma with Extracellular Mucin | A rare variant of invasive breast lobular carcinoma characterized by the presence of pools of extracellular mucin in which groups of floating lobular carcinoma cells are identified. | MONDO:0005051 | +| MONDO:0856275 | thyroid gland follicular carcinoma, signet ring cell variant | NCIT:C187643 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Signet Ring Cell Variant | A morphologic variant of follicular carcinoma of the thyroid gland characterized by the presence of malignant follicular cells with cytoplasmic vacuoles and eccentrically placed nuclei. | MONDO:0005034 | +| MONDO:0856276 | classic thyroid gland papillary carcinoma | NCIT:C187644 | MONDO:equivalentTo | Classic Thyroid Gland Papillary Carcinoma | A thyroid gland papillary carcinoma characterized by the presence of thin cores of fibrovascular tissue lined by one or occasionally several layers of malignant cells with distinct nuclear features that include nuclear pseudoinclusions, nuclear grooves, and ground glass nuclear inclusions. | MONDO:0005075 | +| MONDO:0856277 | high grade follicular cell-derived non-anaplastic thyroid gland carcinoma | NCIT:C187645 | MONDO:equivalentTo | High Grade Follicular Cell-Derived Non-Anaplastic Thyroid Gland Carcinoma | A thyroid gland carcinoma that arises from follicular cells and is characterized by the presence of high mitotic activity and necrotic changes in the absence of anaplastic histological features. This category includes poorly differentiated thyroid gland carcinoma and differentiated high-grade thyroid gland carcinoma. | MONDO:0024622 | +| MONDO:0856285 | thyroid gland secretory carcinoma | NCIT:C187994 | MONDO:equivalentTo | Thyroid Gland Secretory Carcinoma | An invasive adenocarcinoma of the thyroid gland characterized by the presence of cells that secrete eosinophilic material. It is composed of cystic spaces, tubular structures, and solid areas. ETV6 translocations and ETV6-NTRK3 fusion are present. | MONDO:0024622 | +| MONDO:0856286 | thyroblastoma | NCIT:C187995 | MONDO:equivalentTo | Thyroblastoma | A high-grade, rapidly growing malignant embryonal neoplasm that arises from the thyroid gland. It is characterized by the presence of primitive follicular-like structures surrounded by primitive small cells and primitive spindle cell mesenchymal stroma. It is associated with DICER1 gene mutations. The prognosis is poor. | MONDO:0002108|MONDO:0005564 | +| MONDO:0856287 | teratoma with endocrine differentiation | NCIT:C188013 | MONDO:equivalentTo | Teratoma with Endocrine Differentiation | A teratoma that arises outside an endocrine organ and shows endocrine differentiation. The endocrine component ranges from benign endocrine tissue to malignant endocrine neoplasms. This category includes struma ovarii, thyroid carcinoma arising in struma ovarii, and carcinoid tumor arising in ovarian teratoma. | MONDO:0002601 | +| MONDO:0856289 | b-cell malignant neoplasm | NCIT:C188021 | MONDO:equivalentTo | B-Cell Malignant Neoplasm | A clonal lymphoproliferative disorder composed of neoplastic B-cells. It includes B-cell non-Hodgkin lymphomas, B-cell leukemias, and plasma cell myeloma. | MONDO:0004992|MONDO:0004095 | +| MONDO:0856293 | mast cell leukemia with an associated myeloid neoplasm | NCIT:C188031 | MONDO:equivalentTo | Mast Cell Leukemia with an Associated Myeloid Neoplasm | Mast cell leukemia associated with another clonal non-mast cell myeloid neoplasm (e.g., myelodysplastic syndrome, myeloproliferative neoplasm, and acute myeloid leukemia). | MONDO:0020332|MONDO:0020334 | +| MONDO:0856298 | refractory wilms tumor | NCIT:C188038 | MONDO:equivalentTo | Refractory Wilms Tumor | Wilms tumor that is resistant to treatment. | MONDO:0006058|MONDO:0036501 | +| MONDO:0856302 | pleural proximal-type epithelioid sarcoma | NCIT:C188055 | MONDO:equivalentTo | Pleural Proximal-Type Epithelioid Sarcoma | A rare epithelioid sarcoma of the proximal type that arises from the pleura. | MONDO:0004244|MONDO:0006294 | +| MONDO:0856303 | lung osteosarcoma | NCIT:C188061 | MONDO:equivalentTo | Lung Osteosarcoma | A rare extraskeletal osteosarcoma that arises from the lung parenchyma. | MONDO:0002621|MONDO:0002426 | +| MONDO:0856304 | pleural leiomyosarcoma | NCIT:C188063 | MONDO:equivalentTo | Pleural Leiomyosarcoma | A rare leiomyosarcoma that arises from the pleural cavity. | MONDO:0006294|MONDO:0005058 | +| MONDO:0856305 | bone malignant peripheral nerve sheath tumor | NCIT:C188064 | MONDO:equivalentTo | Bone Malignant Peripheral Nerve Sheath Tumor | An exceedingly rare malignant peripheral nerve sheath tumor that arises from the bone. | MONDO:0021054|MONDO:0017827 | +| MONDO:0856308 | lung secretory carcinoma | NCIT:C188068 | MONDO:equivalentTo | Lung Secretory Carcinoma | A rare carcinoma that arises from the lung and has histopathological, immunohistochemical, and genetic features identical to those described in breast and salivary gland secretory carcinomas. | MONDO:0005138 | +| MONDO:0856309 | prostate alveolar rhabdomyosarcoma | NCIT:C188070 | MONDO:equivalentTo | Prostate Alveolar Rhabdomyosarcoma | A rare alveolar rhabdomyosarcoma arising from the prostate gland. | MONDO:0006389|MONDO:0009994 | +| MONDO:0856310 | retroperitoneal rhabdomyosarcoma | NCIT:C188071 | MONDO:equivalentTo | Retroperitoneal Rhabdomyosarcoma | A rhabdomyosarcoma arising from the retroperitoneum. | MONDO:0005212|MONDO:0001501 | +| MONDO:0856312 | retroperitoneal malignant peripheral nerve sheath tumor | NCIT:C188073 | MONDO:equivalentTo | Retroperitoneal Malignant Peripheral Nerve Sheath Tumor | Malignant peripheral nerve sheath tumor that arises in the retroperitoneum. | MONDO:0001501|MONDO:0017827 | +| MONDO:0856313 | rectal epithelioid cell melanoma | NCIT:C188079 | MONDO:equivalentTo | Rectal Epithelioid Cell Melanoma | An epithelioid cell melanoma arising from the rectum. | MONDO:0002167|MONDO:0002973 | +| MONDO:0856316 | lung anaplastic large cell lymphoma | NCIT:C188082 | MONDO:equivalentTo | Lung Anaplastic Large Cell Lymphoma | A rare anaplastic large cell lymphoma that arises in the lung parenchyma. | MONDO:0020644|MONDO:0020325 | +| MONDO:0856325 | adrenal cortical myxoid carcinoma | NCIT:C188182 | MONDO:equivalentTo | Adrenal Cortical Myxoid Carcinoma | A carcinoma that arises from the adrenal cortex and is characterized by the presence of abundant extracellular connective tissue mucin. | MONDO:0006639 | +| MONDO:0856326 | adrenal cortical high grade carcinoma | NCIT:C188183 | MONDO:equivalentTo | Adrenal Cortical High Grade Carcinoma | A carcinoma that arises from the adrenal cortex and is characterized by the presence of more than twenty mitoses per ten square millimeters. | MONDO:0006639 | +| MONDO:0856327 | adrenal cortical melanoma | NCIT:C188185 | MONDO:equivalentTo | Adrenal Cortical Melanoma | A rare melanoma that arises within the adrenal cortex. | MONDO:0021312|MONDO:0006320 | +| MONDO:0856335 | neuroendocrine tumor | NCIT:C188218 | MONDO:equivalentTo | Neuroendocrine Tumor | A well-differentiated neuroendocrine neoplasm of low, intermediate, or high grade. | MONDO:0019496 | +| MONDO:0856336 | head and neck neuroendocrine neoplasm | NCIT:C188222 | MONDO:equivalentTo | Head and Neck Neuroendocrine Neoplasm | A neoplasm with neuroendocrine differentiation that arises from the head and neck. This category includes neuroendocrine tumors, neuroendocrine carcinomas, and paragangliomas. | MONDO:0019496|MONDO:0005586 | +| MONDO:0856338 | adrenal gland lipoma | NCIT:C188250 | MONDO:equivalentTo | Adrenal Gland Lipoma | A rare lipoma that arises from the adrenal gland. | MONDO:0021511|MONDO:0005106 | +| MONDO:0856339 | adrenal gland hemangioma | NCIT:C188251 | MONDO:equivalentTo | Adrenal Gland Hemangioma | A rare hemangioma that arises from the adrenal gland. | MONDO:0021511|MONDO:0006500 | +| MONDO:0856340 | adrenal gland lymphangioma | NCIT:C188252 | MONDO:equivalentTo | Adrenal Gland Lymphangioma | A rare lymphangioma that arises from the adrenal gland. | MONDO:0002013|MONDO:0021511 | +| MONDO:0856341 | adrenal gland leiomyoma | NCIT:C188253 | MONDO:equivalentTo | Adrenal Gland Leiomyoma | A rare leiomyoma that arises from the adrenal gland. | MONDO:0021511|MONDO:0001572 | +| MONDO:0856343 | multiple endocrine neoplasia type 5 | NCIT:C188257 | MONDO:equivalentTo | Multiple Endocrine Neoplasia Type 5 | An inherited neoplastic syndrome caused by mutations in the MYC-associated factor X (MAX) gene. It is associated with the development of paragangliomas/pheochromocytomas, pituitary neuroendocrine tumors, and parathyroid adenomas. Renal cell carcinomas, squamous cell carcinomas, breast carcinomas, lung carcinomas, and endometrial carcinomas have also been reported. | MONDO:0017169 | +| MONDO:0856349 | chronic phase primary myelofibrosis | NCIT:C188314 | MONDO:equivalentTo | Chronic Phase Primary Myelofibrosis | Primary myelofibrosis characterized by the presence of less than 10% blasts in the peripheral blood or bone marrow. | MONDO:0009692 | +| MONDO:0856350 | accelerated phase myeloproliferative neoplasm | NCIT:C188315 | MONDO:equivalentTo | Accelerated Phase Myeloproliferative Neoplasm | Rapid progression of a myeloproliferative neoplasm, characterized by the presence of myeloblasts accounting for 10-19% of the peripheral blood white cells or the nucleated cells in the bone marrow. | MONDO:0020076 | +| MONDO:0856351 | blast phase myeloproliferative neoplasm | NCIT:C188316 | MONDO:equivalentTo | Blast Phase Myeloproliferative Neoplasm | Transformation of a myeloproliferative neoplasm into acute myeloid leukemia, typically via accelerated phase myeloproliferative neoplasm. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow. | MONDO:0020076 | +| MONDO:0856357 | intraductal hyperplasia | NCIT:C26458 | MONDO:equivalentTo | Intraductal Hyperplasia | A hyperplasia of the intraductal cells. | | +| MONDO:0856375 | reticulosarcoma involving spleen | NCIT:C26959 | MONDO:equivalentTo | Reticulosarcoma Involving Spleen | An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes affecting the spleen. | MONDO:0009975 | +| MONDO:0856376 | lymphosarcoma involving spleen | NCIT:C26960 | MONDO:equivalentTo | Lymphosarcoma Involving Spleen | An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes affecting the spleen. | MONDO:0004638 | +| MONDO:0856398 | nonpigmented nevus | NCIT:C27095 | MONDO:equivalentTo | Nonpigmented Nevus | A benign nevus characterized by the absence of melanin pigment in the melanocytes. | MONDO:0044794 | +| MONDO:0856421 | transplant-related disorder | NCIT:C27233 | MONDO:equivalentTo | Transplant-Related Disorder | | | +| MONDO:0856422 | familial adenomatous polyposis associated medulloblastoma | NCIT:C27237 | MONDO:equivalentTo | Familial Adenomatous Polyposis Associated Medulloblastoma | A medulloblastoma developing in patients with familiar adenomatous polyposis syndrome. It is observed in patients with Turcot syndrome, type 2. | MONDO:0007959 | +| MONDO:0856423 | lymphoma by stage | NCIT:C27268 | MONDO:equivalentTo | Lymphoma by Stage | | MONDO:0005062 | +| MONDO:0856424 | glandular cell intraepithelial neoplasia | NCIT:C27269 | MONDO:equivalentTo | Glandular Cell Intraepithelial Neoplasia | | MONDO:0024474|MONDO:0024276 | +| MONDO:0856425 | secondary myelodysplastic syndrome | NCIT:C27280 | MONDO:equivalentTo | Secondary Myelodysplastic Syndrome | A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer or exposure to certain chemicals. | MONDO:0018881|MONDO:0024881 | +| MONDO:0856428 | metastatic ewing sarcoma/peripheral primitive neuroectodermal tumor | NCIT:C27292 | MONDO:equivalentTo | Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | A small round cell tumor with or without neural differentiation that has spread from its original site of growth to another anatomic site. | MONDO:0021038|MONDO:0024880 | +| MONDO:0856443 | unresectable malignant neoplasm | NCIT:C27359 | MONDO:equivalentTo | Unresectable Malignant Neoplasm | A malignant neoplasm which is not amenable to surgical resection. | MONDO:0004992 | +| MONDO:0856447 | mucin-producing adenocarcinoma | NCIT:C27379 | MONDO:equivalentTo | Mucin-Producing Adenocarcinoma | An invasive adenocarcinoma composed of malignant glandular cells which produce mucin. | MONDO:0020596|MONDO:0004970 | +| MONDO:0856451 | extraosseous/peripheral ameloblastoma | NCIT:C27396 | MONDO:equivalentTo | Extraosseous/Peripheral Ameloblastoma | An ameloblastoma that arises from the soft tissues in the gingiva or alveolar mucosa. It presents as a painless exophytic mass. | MONDO:0017795 | +| MONDO:0856452 | ampulla of vater intestinal-type adenocarcinoma | NCIT:C27415 | MONDO:equivalentTo | Ampulla of Vater Intestinal-Type Adenocarcinoma | An invasive adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of intestinal-type malignant epithelial cells. | MONDO:0002670|MONDO:0006254 | +| MONDO:0856453 | ampulla of vater undifferentiated carcinoma | NCIT:C27419 | MONDO:equivalentTo | Ampulla of Vater Undifferentiated Carcinoma | An aggressive carcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of malignant epithelial cells without evidence of glandular or squamous differentiation. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. | MONDO:0017590|MONDO:0005617 | +| MONDO:0856456 | small intestinal gastrin-producing neuroendocrine tumor | NCIT:C27450 | MONDO:equivalentTo | Small Intestinal Gastrin-Producing Neuroendocrine Tumor | A gastrin-producing neuroendocrine tumor that arises from the small intestine. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. | MONDO:0002995|MONDO:0003523 | +| MONDO:0856457 | small intestinal enterochromaffin cell serotonin-producing neuroendocrine tumor | NCIT:C27451 | MONDO:equivalentTo | Small Intestinal Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor | A well differentiated neuroendocrine tumor that arises from the small intestine and produces serotonin. | MONDO:0002995 | +| MONDO:0856458 | small intestinal somatostatin-producing neuroendocrine tumor | NCIT:C27453 | MONDO:equivalentTo | Small Intestinal Somatostatin-Producing Neuroendocrine Tumor | A somatostatin-producing neuroendocrine tumor that arises from the small intestine. | MONDO:0002995|MONDO:0006976 | +| MONDO:0856460 | colorectal adenoma with moderate dysplasia | NCIT:C27457 | MONDO:equivalentTo | Colorectal Adenoma with Moderate Dysplasia | An adenoma that arises from the colon or rectum. It is characterized by the presence of moderate epithelial dysplasia. | MONDO:0005484 | +| MONDO:0856461 | colorectal adenoma with mild dysplasia | NCIT:C27458 | MONDO:equivalentTo | Colorectal Adenoma with Mild Dysplasia | An adenoma that arises from the colon or rectum. It is characterized by the presence of mild epithelial dysplasia. | MONDO:0005484 | +| MONDO:0856463 | disseminated malignant neoplasm | NCIT:C27470 | MONDO:equivalentTo | Disseminated Malignant Neoplasm | Cancer that is spread throughout the body, a metastatic phenomenon. | MONDO:0024880 | +| MONDO:0856464 | bone lipoma | NCIT:C27475 | MONDO:equivalentTo | Bone Lipoma | A benign neoplasm which is composed of adipocytes and arises from the surface of the bone or the medullary cavity. | MONDO:0000631|MONDO:0005106 | +| MONDO:0856465 | bone schwannoma | NCIT:C27476 | MONDO:equivalentTo | Bone Schwannoma | A very rare schwannoma of the bone. It is often located in the mandible and is well circumscribed. | MONDO:0004820|MONDO:0000631 | +| MONDO:0856468 | secondary chondrosarcoma | NCIT:C27482 | MONDO:equivalentTo | Secondary Chondrosarcoma | A chondrosarcoma that arises either in a pre-existing enchondroma or within the cartilaginous cap of a pre-existing osteochondroma. | MONDO:0021054|MONDO:0024881|MONDO:0008977 | +| MONDO:0856469 | conventional alveolar rhabdomyosarcoma | NCIT:C27492 | MONDO:equivalentTo | Conventional Alveolar Rhabdomyosarcoma | An alveolar rhabdomyosarcoma characterized by the presence of large striated muscle cells with clear cytoplasm, giant cells with myoblastic differentiation, and fibrovascular septa. | MONDO:0009994 | +| MONDO:0856470 | solid alveolar rhabdomyosarcoma | NCIT:C27493 | MONDO:equivalentTo | Solid Alveolar Rhabdomyosarcoma | A morphologic variant of alveolar rhabdomyosarcoma. It is characterized by the presence of a solid growth pattern and the absence of fibrovascular stroma. | MONDO:0009994 | +| MONDO:0856471 | lymphadenopathic kaposi sarcoma | NCIT:C27500 | MONDO:equivalentTo | Lymphadenopathic Kaposi Sarcoma | A Kaposi sarcoma affecting the lymph nodes. | MONDO:0001082|MONDO:0005055 | +| MONDO:0856472 | conventional extraskeletal myxoid chondrosarcoma | NCIT:C27501 | MONDO:equivalentTo | Conventional Extraskeletal Myxoid Chondrosarcoma | A well differentiated extraskeletal myxoid chondrosarcoma. | MONDO:0012825 | +| MONDO:0856473 | intra-abdominal lymphangioma | NCIT:C27508 | MONDO:equivalentTo | Intra-Abdominal Lymphangioma | A lymphangioma arising from the organs of the abdominal cavity. | MONDO:0002013 | +| MONDO:0856474 | angiosarcoma associated with lymphedema | NCIT:C27512 | MONDO:equivalentTo | Angiosarcoma Associated with Lymphedema | An angiosarcoma that develops in association with long standing lymphedema. | MONDO:0016982 | +| MONDO:0856475 | desmoplastic fibroblastoma | NCIT:C27515 | MONDO:equivalentTo | Desmoplastic Fibroblastoma | A rare benign soft tissue neoplasm characterized by the presence of an abundant collagenous or myxocollagenous matrix, spindle-shaped, and stellate-shaped fibroblasts. It usually presents as an asymptomatic, slowly growing subcutaneous mass. The most common sites of involvement are the upper arm, shoulder, and lower limb. | MONDO:0005167 | +| MONDO:0856477 | columnar trichoblastoma | NCIT:C27524 | MONDO:equivalentTo | Columnar Trichoblastoma | A benign adnexal tumor occurring in the face of young female subjects. It is characterized by the presence of epithelial neoplastic cells and keratinous cysts in a desmoplastic stroma. | MONDO:0020593 | +| MONDO:0856478 | tubular apocrine adenoma | NCIT:C27527 | MONDO:equivalentTo | Tubular Apocrine Adenoma | A benign dermal adnexal neoplasm with apocrine differentiation. It usually occurs in the scalp and has a female predilection. It presents as an asymptomatic solitary nodule. It is characterized by a lobular architecture. The lobules are composed by tubular structures lined by epithelial cells. There is no cytologic atypia or mitotic figures present. | MONDO:0002804 | +| MONDO:0856479 | primary cutaneous mucinous carcinoma | NCIT:C27533 | MONDO:equivalentTo | Primary Cutaneous Mucinous Carcinoma | A rare low-grade carcinoma of the sweat glands. The most common sites are eyelids, scalp, axilla, face and trunk. It is histologically characterized by proliferating ducts until the overproduction of mucin creates islands of tumor cells, essentially floating in mucinous pools (Rosai J. Ackerman's Surgical Pathology). | MONDO:0005524|MONDO:0004957 | +| MONDO:0856501 | oral cavity disorder | NCIT:C27641 | MONDO:equivalentTo | Oral Cavity Disorder | A non-neoplastic or neoplastic disorder affecting the oral cavity. | | +| MONDO:0856504 | sinonasal disorder | NCIT:C27647 | MONDO:equivalentTo | Sinonasal Disorder | A non-neoplastic or neoplastic disorder that affects the nasal cavity or paranasal sinuses. Representative examples include inflammatory disorders, papillomas, and carcinomas. | | +| MONDO:0856509 | human papillomavirus-related verrucous carcinoma | NCIT:C27678 | MONDO:equivalentTo | Human Papillomavirus-Related Verrucous Carcinoma | A verrucous carcinoma that is associated with human papillomavirus infection. | MONDO:0020657|MONDO:0006006 | +| MONDO:0856510 | human papillomavirus-related vulvar squamous cell carcinoma | NCIT:C27679 | MONDO:equivalentTo | Human Papillomavirus-Related Vulvar Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the vulva and is caused by human papillomavirus infection. | MONDO:0020657|MONDO:0024609 | +| MONDO:0856511 | human papillomavirus-related esophageal squamous cell carcinoma | NCIT:C27680 | MONDO:equivalentTo | Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma | An esophageal squamous cell carcinoma that arises from squamous epithelial cells infected with human papillomavirus. | MONDO:0005580|MONDO:0020657 | +| MONDO:0856512 | human papillomavirus-related anal squamous cell carcinoma | NCIT:C27681 | MONDO:equivalentTo | Human Papillomavirus-Related Anal Squamous Cell Carcinoma | An anal squamous cell carcinoma related to infection with sexually transmittable human papillomavirus. | MONDO:0020657|MONDO:0006082 | +| MONDO:0856518 | ebv-related post-transplant lymphoproliferative disorder | NCIT:C27696 | MONDO:equivalentTo | EBV-Related Post-Transplant Lymphoproliferative Disorder | A lymphoproliferative disorder that develops following organ transplantation and is associated with Epstein-Barr virus infection. | | +| MONDO:0856523 | extragastrointestinal gastrointestinal stromal tumor | NCIT:C27716 | MONDO:equivalentTo | Extragastrointestinal Gastrointestinal Stromal Tumor | A rare gastrointestinal stromal tumor that presents as a solitary mass outside the gastrointestinal tract. | MONDO:0011719 | +| MONDO:0856526 | myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia | NCIT:C27726 | MONDO:equivalentTo | Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia | A myelodysplastic syndrome characterized by bi-cytopenia or pancytopenia, dysplastic changes in 10% or more of the cells in two or more of the myeloid cell lines, and 15% or more ring sideroblasts in the bone marrow. (WHO, 2001) | MONDO:0019157 | +| MONDO:0856529 | typical acute promyelocytic leukemia | NCIT:C27756 | MONDO:equivalentTo | Typical Acute Promyelocytic Leukemia | Acute Promyelocytic leukemia characterized by the presence of hypergranular promyelocytes and characteristic cells that contain bundles of Auer rods. | MONDO:0012883 | +| MONDO:0856530 | microgranular acute promyelocytic leukemia | NCIT:C27757 | MONDO:equivalentTo | Microgranular Acute Promyelocytic Leukemia | Acute promyelocytic leukemia in which the promyelocytes in the peripheral blood have paucity or absence of cytoplasmic granules and characteristic bilobed nuclei. | MONDO:0012883 | +| MONDO:0856539 | myelodysplastic/myeloproliferative neoplasm, not otherwise specified | NCIT:C27780 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm, Not Otherwise Specified | A myelodysplastic/myeloproliferative neoplasm that does not meet the criteria of other myelodysplastic/myeloproliferative neoplasms, myelodysplastic syndromes, and myeloproliferative neoplasms. It is associated with cytopenia, blasts less than 20% in bone marrow and peripheral blood, thrombocytosis, and absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions. | MONDO:0006311 | +| MONDO:0856541 | spindle cell type gastrointestinal stromal tumor | NCIT:C27792 | MONDO:equivalentTo | Spindle Cell Type Gastrointestinal Stromal Tumor | A gastrointestinal stromal tumor composed of neoplastic spindle cells. | MONDO:0011719 | +| MONDO:0856542 | mixed cell type gastrointestinal stromal tumor | NCIT:C27793 | MONDO:equivalentTo | Mixed Cell Type Gastrointestinal Stromal Tumor | A gastrointestinal stromal tumor composed of a mixture of neoplastic epithelioid and spindle cells. | MONDO:0011719 | +| MONDO:0856545 | nodular sclerosis classic hodgkin lymphoma, syncytial variant | NCIT:C27807 | MONDO:equivalentTo | Nodular Sclerosis Classic Hodgkin Lymphoma, Syncytial Variant | | MONDO:0004665 | +| MONDO:0856546 | pigmented nevus | NCIT:C27816 | MONDO:equivalentTo | Pigmented Nevus | A nevus characterised by the presence of excessive pigment. | MONDO:0044794 | +| MONDO:0856549 | invasive breast carcinoma by histologic grade | NCIT:C27829 | MONDO:equivalentTo | Invasive Breast Carcinoma by Histologic Grade | | MONDO:0006256 | +| MONDO:0856551 | endometrial endometrioid adenocarcinoma with clear cell change | NCIT:C27843 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma with Clear Cell Change | A morphologic variant of endometrioid adenocarcinoma characterized by the presence of large multinucleated clear cells. | MONDO:0006192|MONDO:0005004 | +| MONDO:0856552 | endometrial endometrioid adenocarcinoma with a poorly differentiated carcinomatous component | NCIT:C27844 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma with a Poorly Differentiated Carcinomatous Component | A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of a component with poorly differentiated carcinoma cells. | MONDO:0006192 | +| MONDO:0856553 | endometrial endometrioid adenocarcinoma with an undifferentiated carcinomatous component | NCIT:C27845 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma with an Undifferentiated Carcinomatous Component | A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of a component with undifferentiated malignant cells. | MONDO:0006192 | +| MONDO:0856554 | endometrial endometrioid adenocarcinoma, ciliated variant | NCIT:C27848 | MONDO:equivalentTo | Endometrial Endometrioid Adenocarcinoma, Ciliated Variant | An endometrioid adenocarcinoma arising from the endometrium, in which ciliated cells line the majority of the malignant glands. | MONDO:0006192 | +| MONDO:0856567 | transitional cell intraepithelial neoplasia | NCIT:C27881 | MONDO:equivalentTo | Transitional Cell Intraepithelial Neoplasia | | MONDO:0024474|MONDO:0037254 | +| MONDO:0856569 | type 1 papillary renal cell carcinoma | NCIT:C27886 | MONDO:equivalentTo | Type 1 Papillary Renal Cell Carcinoma | A papillary renal cell carcinoma characterized by the presence of papillae covered by small cells with scant amount of cytoplasm. The cells are arranged in a single layer on the basement membrane of the papillae. | MONDO:0017884 | +| MONDO:0856570 | type 2 papillary renal cell carcinoma | NCIT:C27887 | MONDO:equivalentTo | Type 2 Papillary Renal Cell Carcinoma | A papillary renal cell carcinoma characterized by the presence of papillae covered by cells of a higher nuclear grade as compared to type 1 papillary renal cell carcinoma. The cells have eosinophilic cytoplasm and pseudostratified nuclei. | MONDO:0017884 | +| MONDO:0856571 | sporadic papillary renal cell carcinoma | NCIT:C27890 | MONDO:equivalentTo | Sporadic Papillary Renal Cell Carcinoma | A papillary renal cell carcinoma that occurs in a patient who does not have a family history of papillary renal cell carcinoma nor is a carrier of an inherited DNA change that would increase the risk of developing this carcinoma. | MONDO:0017884 | +| MONDO:0856577 | well differentiated prostate adenocarcinoma | NCIT:C27905 | MONDO:equivalentTo | Well Differentiated Prostate Adenocarcinoma | An invasive prostate adenocarcinoma characterized by the presence of well differentiated malignant glandular epithelial components. | MONDO:0005082 | +| MONDO:0856578 | moderately differentiated prostate adenocarcinoma | NCIT:C27906 | MONDO:equivalentTo | Moderately Differentiated Prostate Adenocarcinoma | An invasive prostate adenocarcinoma characterized by the presence of malignant cells exhibiting moderate differentiation. | MONDO:0005082 | +| MONDO:0856579 | alkylating agent-related acute myeloid leukemia and myelodysplastic syndrome | NCIT:C27913 | MONDO:equivalentTo | Alkylating Agent-Related Acute Myeloid Leukemia and Myelodysplastic Syndrome | Acute myeloid leukemias and myelodysplastic syndromes arising as a result of the mutagenic effect of alkylating agents that are used for the treatment of malignant tumors. Patients usually develop a myelodysplastic syndrome which may evolve to a higher grade myelodysplastic syndrome or acute myeloid leukemia. A minority of patients present with an acute myeloid leukemia. Clonal cytogenetic abnormalities are frequently present and usually are unbalanced translocations or deletions of chromosomes 5 and 7. Patients with acute myeloid leukemia usually do not respond to treatment and have an unfavorable clinical outcome. | MONDO:0006450 | +| MONDO:0856580 | sporadic burkitt lymphoma | NCIT:C27914 | MONDO:equivalentTo | Sporadic Burkitt Lymphoma | A clinical variant of Burkitt lymphoma that occurs throughout the world. It affects both children and adults and is more frequently seen in males. | MONDO:0007243 | +| MONDO:0856582 | poorly differentiated prostate adenocarcinoma | NCIT:C27916 | MONDO:equivalentTo | Poorly Differentiated Prostate Adenocarcinoma | An invasive prostate adenocarcinoma characterized by the presence of poorly differentiated malignant cells. | MONDO:0005082 | +| MONDO:0856592 | metaplastic carcinoma | NCIT:C27949 | MONDO:equivalentTo | Metaplastic Carcinoma | A general term used to describe carcinomas arising from epithelial cells that have been transformed into another cells type (metaplastic epithelial cells). A representative example is the adenocarcinoma arising in Barrett esophagus. This term is also used to describe carcinomas in which the malignant epithelial cells show differentiation towards another cell type. A representative example of the latter is the metaplastic breast carcinoma in which the malignant glandular cells show squamous, spindle cell, or chondroid/osseous differentiation. | MONDO:0004993 | +| MONDO:0856593 | squamous cell carcinoma in situ of the nipple | NCIT:C28292 | MONDO:equivalentTo | Squamous Cell Carcinoma In Situ of the Nipple | An intraepidermal squamous cell carcinoma involving the area of the nipple. | MONDO:0004693|MONDO:0003950 | +| MONDO:0856599 | biliary system disorder | NCIT:C2899 | MONDO:equivalentTo | Biliary System Disorder | A non-neoplastic or neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts or the gallbladder. Representative examples of non-neoplastic disorders include cholangitis and cholecystitis. Representative examples of neoplastic disorders include extrahepatic bile duct adenoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. | | +| MONDO:0856602 | enchondroma | NCIT:C3007 | MONDO:equivalentTo | Enchondroma | A common benign hyaline cartilage neoplasm arising in the intramedullary bone. It is characterized by the presence of chondrocytes, low mitotic activity, and in some cases, a nodular pattern and calcification. The small bones of the hands and feet are the most frequently affected sites. | MONDO:0000631|MONDO:0002360 | +| MONDO:0856604 | pancreatic glucagon-producing neuroendocrine tumor | NCIT:C3062 | MONDO:equivalentTo | Pancreatic Glucagon-Producing Neuroendocrine Tumor | A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may or may not be associated with inappropriate secretion of glucagon and an associated clinical syndrome. | MONDO:0019954 | +| MONDO:0856606 | chronic phase chronic myeloid leukemia, bcr-abl1 positive | NCIT:C3175 | MONDO:equivalentTo | Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive | A phase of chronic myeloid leukemia, BCR-ABL1 positive in which the peripheral blood smear shows leukocytosis with neutrophils in different stages of maturation, less than 2% blasts, and normal or increased platelet count. Most patients have mild anemia. The bone marrow is hypercellular due to increased numbers of neutrophils and their precursors, and blasts usually account for fewer than 5% of the marrow cells. Megakaryocytes are smaller than normal and have hypolobated nuclei. The spleen is enlarged due to infiltration of the cords of the red pulp by granulocytes. | MONDO:0001014|MONDO:0011996 | +| MONDO:0856607 | myeloid leukemia, philadelphia-negative | NCIT:C3176 | MONDO:equivalentTo | Myeloid Leukemia, Philadelphia-Negative | Myeloid leukemia characterized by the absence of Philadelphia chromosome. | MONDO:0004643 | +| MONDO:0856608 | neoplasm by site | NCIT:C3263 | MONDO:equivalentTo | Neoplasm by Site | A term that refers to the classification of a neoplastic process according to the anatomic site that is involved. | MONDO:0005070 | +| MONDO:0856610 | osteochondroma | NCIT:C3295 | MONDO:equivalentTo | Osteochondroma | A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus. | MONDO:0000631|MONDO:0024470 | +| MONDO:0856611 | extra-adrenal paraganglioma | NCIT:C3309 | MONDO:equivalentTo | Extra-Adrenal Paraganglioma | A paraganglioma arising from sympathetic or parasympathetic paraganglia outside the adrenal gland. | MONDO:0000448 | +| MONDO:0856614 | supratentorial neoplasm | NCIT:C3397 | MONDO:equivalentTo | Supratentorial Neoplasm | A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. | MONDO:0021211 | +| MONDO:0856615 | thyroid gland nodule | NCIT:C3415 | MONDO:equivalentTo | Thyroid Gland Nodule | A nodular lesion that develops in the thyroid gland. Causes include adenoma, thyroiditis, fluid-filled cyst, multinodular goiter, and carcinoma. | | +| MONDO:0856638 | grade 3 follicular lymphoma | NCIT:C3460 | MONDO:equivalentTo | Grade 3 Follicular Lymphoma | A follicular lymphoma which contains more than 15 centroblasts per 40X high-power microscopic field. | MONDO:0018906|MONDO:0017595 | +| MONDO:0856655 | lobular capillary hemangioma | NCIT:C3480 | MONDO:equivalentTo | Lobular Capillary Hemangioma | | MONDO:0002407 | +| MONDO:0856661 | epithelioid cell type gastrointestinal stromal tumor | NCIT:C3486 | MONDO:equivalentTo | Epithelioid Cell Type Gastrointestinal Stromal Tumor | A benign or malignant gastrointestinal stromal tumor with epithelioid morphology. | MONDO:0011719 | +| MONDO:0856691 | uterine corpus degenerated leiomyoma | NCIT:C3511 | MONDO:equivalentTo | Uterine Corpus Degenerated Leiomyoma | A morphologic variant of uterine corpus leiomyoma characterized by the presence of hyalinized or myxoid stroma, edema, cystic changes, hemorrhage, and calcifications. | MONDO:0007886 | +| MONDO:0856703 | eyelid vascular disorder | NCIT:C35198 | MONDO:equivalentTo | Eyelid Vascular Disorder | Any non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels of the eyelid. | | +| MONDO:0856706 | placental polyp | NCIT:C3521 | MONDO:equivalentTo | Placental Polyp | A polyp in the uterine cavity that is formed by placenta remnants. | MONDO:0021498|MONDO:0005079 | +| MONDO:0856715 | chondromatosis | NCIT:C35259 | MONDO:equivalentTo | Chondromatosis | A multifocal benign neoplasm arising from bone or soft tissue. It is characterized by the presence of chondrocytes and is composed of hyaline cartilage. | MONDO:0024470 | +| MONDO:0856716 | malignant submandibular gland neoplasm | NCIT:C3526 | MONDO:equivalentTo | Malignant Submandibular Gland Neoplasm | A malignant neoplasm that arises from the submandibular gland. The majority are carcinomas. | MONDO:0021244|MONDO:0044743 | +| MONDO:0856723 | malignant palate neoplasm | NCIT:C3530 | MONDO:equivalentTo | Malignant Palate Neoplasm | A primary or metastatic malignant neoplasm that affects the hard palate, soft palate, or uvula. | MONDO:0005515|MONDO:0005286 | +| MONDO:0856758 | malignant neoplasm of multiple primary sites | NCIT:C35427 | MONDO:equivalentTo | Malignant Neoplasm of Multiple Primary Sites | A malignant neoplasm arising in multiple primary sites. | MONDO:0004992 | +| MONDO:0856764 | behavioral disorder | NCIT:C35470 | MONDO:equivalentTo | Behavioral Disorder | A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment. | | +| MONDO:0856772 | lung kaposi sarcoma | NCIT:C3551 | MONDO:equivalentTo | Lung Kaposi Sarcoma | A Kaposi sarcoma arising from the lung. | MONDO:0002426|MONDO:0005055 | +| MONDO:0856784 | malignant exocervical neoplasm | NCIT:C3554 | MONDO:equivalentTo | Malignant Exocervical Neoplasm | A malignant neoplasm that affects the exocervix. | MONDO:0002974 | +| MONDO:0856786 | malignant uterine corpus neoplasm | NCIT:C3556 | MONDO:equivalentTo | Malignant Uterine Corpus Neoplasm | A malignant neoplasm that affects the uterine corpus. Representative examples include endometrial carcinoma, carcinosarcoma, leiomyosarcoma, and adenosarcoma. | MONDO:0021254|MONDO:0002715 | +| MONDO:0856787 | complex endometrial hyperplasia with atypia | NCIT:C35560 | MONDO:equivalentTo | Complex Endometrial Hyperplasia with Atypia | A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma. | MONDO:0006169 | +| MONDO:0856810 | mixed tumor of the salivary gland | NCIT:C35691 | MONDO:equivalentTo | Mixed Tumor of the Salivary Gland | A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma. | MONDO:0021043|MONDO:0021357 | +| MONDO:0856811 | posterior pharyngeal wall carcinoma | NCIT:C35692 | MONDO:equivalentTo | Posterior Pharyngeal Wall Carcinoma | A carcinoma that arises from the posterior wall of the pharynx. | MONDO:0021345 | +| MONDO:0856812 | benign uvula neoplasm | NCIT:C35698 | MONDO:equivalentTo | Benign Uvula Neoplasm | A non-metastasizing neoplasm that arises from the uvula. | MONDO:0021480 | +| MONDO:0856814 | testicular teratoma with somatic-type malignancy | NCIT:C35711 | MONDO:equivalentTo | Testicular Teratoma with Somatic-Type Malignancy | A testicular teratoma associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma). | MONDO:0003403|MONDO:0006444|MONDO:0018193 | +| MONDO:0856818 | salivary gland lymphoepithelial carcinoma | NCIT:C35736 | MONDO:equivalentTo | Salivary Gland Lymphoepithelial Carcinoma | A rare carcinoma that arises from the salivary glands, most often the parotid gland. It is characterized by the presence of an undifferentiated carcinomatous component associated with a prominent reactive lymphoplasmacytic infiltrate. | MONDO:0000521|MONDO:0003572 | +| MONDO:0856830 | metastatic malignant neoplasm in the bone | NCIT:C3580 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Bone | The spread of a malignant neoplasm from a primary site to the skeletal system. The majority of metastatic neoplasms to the bone are carcinomas. | MONDO:0002129|MONDO:0024880 | +| MONDO:0856835 | monoblastic sarcoma | NCIT:C35816 | MONDO:equivalentTo | Monoblastic Sarcoma | A less common form of myeloid sarcoma composed of monoblasts. Monoblastic sarcoma may precede or occur simultaneously with acute monoblastic leukemia. (WHO 2001) | MONDO:0006861 | +| MONDO:0856836 | blastic granulocytic sarcoma | NCIT:C35817 | MONDO:equivalentTo | Blastic Granulocytic Sarcoma | A granulocytic sarcoma composed primarily of myeloblasts (WHO 2001). | MONDO:0006237 | +| MONDO:0856837 | immature granulocytic sarcoma | NCIT:C35818 | MONDO:equivalentTo | Immature Granulocytic Sarcoma | A granulocytic sarcoma composed of myeloblasts and promyelocytes (WHO 2001). | MONDO:0006237 | +| MONDO:0856838 | differentiated granulocytic sarcoma | NCIT:C35819 | MONDO:equivalentTo | Differentiated Granulocytic Sarcoma | A granulocytic sarcoma composed of promyelocytes and more mature neutrophils (WHO 2001). | MONDO:0006237 | +| MONDO:0856840 | salivary gland cystadenoma | NCIT:C35833 | MONDO:equivalentTo | Salivary Gland Cystadenoma | An uncommon benign epithelial tumor, characterized by predominantly unicystic or multicystic growth; there is focal intraluminal papillary proliferation of the lining epithelium. Nearly half occur in the parotid gland. In the minor salivary glands, women are affected more than men. In the major salivary glands, cystadenomas present as slowly enlarging, asymptomatic masses that may be slightly compressible. Cystadenocarcinoma is the malignant counterpart. | MONDO:0021460|MONDO:0036976|MONDO:0002369 | +| MONDO:0856844 | salivary gland ductal papilloma | NCIT:C35839 | MONDO:equivalentTo | Salivary Gland Ductal Papilloma | A benign papillary neoplasm that arises from the salivary glands. This category includes intraductal papilloma, inverted ductal papilloma, and sialadenoma papilliferum. | MONDO:0002363|MONDO:0021460 | +| MONDO:0856847 | grade 1 clear cell renal cell carcinoma | NCIT:C35851 | MONDO:equivalentTo | Grade 1 Clear Cell Renal Cell Carcinoma | A clear cell renal cell carcinoma characterized by absent or inconspicuous and basophilic nucleoli at x 400 magnification. (WHO 1982 /ISUP 2014) | MONDO:0005005 | +| MONDO:0856848 | grade 2 clear cell renal cell carcinoma | NCIT:C35852 | MONDO:equivalentTo | Grade 2 Clear Cell Renal Cell Carcinoma | A clear cell renal cell carcinoma characterized by nucleoli conspicuous and eosinophilic at x 400 magnification, and visible but not prominent at x 100 magnification. (WHO 1982 /ISUP 2014) | MONDO:0005005 | +| MONDO:0856849 | grade 3 clear cell renal cell carcinoma | NCIT:C35853 | MONDO:equivalentTo | Grade 3 Clear Cell Renal Cell Carcinoma | A clear cell renal cell carcinoma characterized by nucleoli conspicuous and eosinophilic at x 100 magnification. (WHO 1982 /ISUP 2014) | MONDO:0005005 | +| MONDO:0856850 | grade 4 clear cell renal cell carcinoma | NCIT:C35854 | MONDO:equivalentTo | Grade 4 Clear Cell Renal Cell Carcinoma | A clear cell renal cell carcinoma characterized by extreme nuclear pleomorphism and/or sarcomatoid and/or rhabdoid differentiation and/or tumor giant cells. (WHO, 1982 /ISUP 2014) | MONDO:0005005 | +| MONDO:0856855 | endemic african kaposi sarcoma | NCIT:C35874 | MONDO:equivalentTo | Endemic African Kaposi Sarcoma | A Kaposi sarcoma that occurs in adults and children in Equatorial Africa. | MONDO:0005055 | +| MONDO:0856856 | distantly metastatic malignant neoplasm | NCIT:C35933 | MONDO:equivalentTo | Distantly Metastatic Malignant Neoplasm | A malignant tumor that has spread from its original (primary) site of growth to another site distant from the primary site. | MONDO:0024880 | +| MONDO:0856857 | malignant neoplasm by grade | NCIT:C36041 | MONDO:equivalentTo | Malignant Neoplasm by Grade | A term that refers to the categorization of malignant neoplasm by histologic grade. | MONDO:0004992 | +| MONDO:0856858 | moderately differentiated malignant neoplasm | NCIT:C36049 | MONDO:equivalentTo | Moderately Differentiated Malignant Neoplasm | A neoplasm whose histologic characteristics are intermediate between poorly differentiated and well differentiated. | MONDO:0004992 | +| MONDO:0856859 | poorly differentiated malignant neoplasm | NCIT:C36050 | MONDO:equivalentTo | Poorly Differentiated Malignant Neoplasm | A neoplasm whose histologic characteristics have regressed and are more similar to stem cells. | MONDO:0004992 | +| MONDO:0856860 | undifferentiated malignant neoplasm | NCIT:C36051 | MONDO:equivalentTo | Undifferentiated Malignant Neoplasm | A neoplasm that has minimal to no differentiating features. | MONDO:0004992 | +| MONDO:0856861 | well differentiated malignant neoplasm | NCIT:C36052 | MONDO:equivalentTo | Well Differentiated Malignant Neoplasm | A malignant neoplasm with morphological features reminiscent of the tissue from which it arose. | MONDO:0004992 | +| MONDO:0856862 | acute myeloid leukemia with t(11;17)(q23;q21); zbtb16-rara | NCIT:C36056 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(11;17)(q23;q21); ZBTB16-RARA | Acute myeloid leukemia with the variant RARA t(11;17)(q23;q21) and the expression of ZBTB16-RARA fusion protein. It lacks differentiation response to retinoids treatment. | MONDO:0100375 | +| MONDO:0856863 | acute myeloid leukemia with t(5;17)(q35;q21); npm1-rara | NCIT:C36057 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(5;17)(q35;q21); NPM1-RARA | Acute myeloid leukemia with the variant RARA t(5;17)(q35;q21) and the expression of NPM1-RARA fusion protein. | MONDO:0100375 | +| MONDO:0856864 | acute myeloid leukemia with t(11;17)(q13;q21); numa1-rara | NCIT:C36058 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(11;17)(q13;q21); NUMA1-RARA | Acute myeloid leukemia with the variant RARA t(11;17)(q13;q21) and the expression of NUMA1-RARA fusion protein. | MONDO:0100375 | +| MONDO:0856865 | chronic myelomonocytic leukemia with eosinophilia | NCIT:C36060 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia with Eosinophilia | A chronic myelomonocytic leukemia characterized by a peripheral blood eosinophil count of equal or greater than 1.5x10E9/L, and absence of PDGFRA or PDGFRB gene abnormalities. | MONDO:0020311 | +| MONDO:0856866 | chronic myelomonocytic leukemia-1 | NCIT:C36061 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia-1 | A chronic myelomonocytic leukemia characterized by the presence of less than 10 percent blasts in the bone marrow and less than 5 percent blasts in the peripheral blood. | MONDO:0020311 | +| MONDO:0856867 | chronic myelomonocytic leukemia-2 | NCIT:C36062 | MONDO:equivalentTo | Chronic Myelomonocytic Leukemia-2 | A chronic myelomonocytic leukemia characterized by the presence of 10-19 percent blasts in the bone marrow and 5-19 percent blasts in the peripheral blood or by the presence of Auer rods regardless of the blasts count. | MONDO:0020311 | +| MONDO:0856875 | hereditary male breast carcinoma | NCIT:C36106 | MONDO:equivalentTo | Hereditary Male Breast Carcinoma | Breast carcinoma that has developed in male relatives of patients with history of breast carcinoma. | MONDO:0016419|MONDO:0005628 | +| MONDO:0856876 | hereditary female breast carcinoma | NCIT:C36107 | MONDO:equivalentTo | Hereditary Female Breast Carcinoma | Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma. | MONDO:0016419|MONDO:0004379 | +| MONDO:0856880 | non-hereditary clear cell renal cell carcinoma | NCIT:C36261 | MONDO:equivalentTo | Non-Hereditary Clear Cell Renal Cell Carcinoma | The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. | MONDO:0005005 | +| MONDO:0856882 | metastatic benign neoplasm | NCIT:C36264 | MONDO:equivalentTo | Metastatic Benign Neoplasm | A very rare benign neoplasm that metastasizes inexplicably. This category includes metastasizing pleomorphic adenoma of the salivary gland and uterine corpus metastasizing leiomyoma. | MONDO:0005165|MONDO:0024883 | +| MONDO:0856883 | lymphomatous adult t-cell leukemia/lymphoma | NCIT:C36266 | MONDO:equivalentTo | Lymphomatous Adult T-Cell Leukemia/Lymphoma | An adult T-cell leukemia/lymphoma characterized by generalized lymphadenopathy without peripheral blood involvement. Most patients have advanced disease, however hypercalcemia is not frequently present. | MONDO:0019471 | +| MONDO:0856884 | hodgkin-like adult t-cell leukemia/lymphoma | NCIT:C36268 | MONDO:equivalentTo | Hodgkin-Like Adult T-Cell Leukemia/Lymphoma | A rare morphologic variant of adult T-cell leukemia/lymphoma characterized by the presence of Hodgkin-like and Reed-Sternberg-like cells. | MONDO:0019471 | +| MONDO:0856885 | t-cell prolymphocytic leukemia, small cell variant | NCIT:C36270 | MONDO:equivalentTo | T-Cell Prolymphocytic Leukemia, Small Cell Variant | A T-cell prolymphocytic leukemia characterized by the presence of small neoplastic prolymphocytes often with invisible nucleolus by light microscopy. | MONDO:0019468 | +| MONDO:0856886 | t-cell prolymphocytic leukemia, cerebriform cell variant | NCIT:C36271 | MONDO:equivalentTo | T-Cell Prolymphocytic Leukemia, Cerebriform Cell Variant | A T-cell prolymphocytic leukemia characterized by the presence of neoplastic prolymphocytes with irregular or cerebriform nuclear outline. | MONDO:0019468 | +| MONDO:0856887 | chronic lymphocytic leukemia with plasmacytoid differentiation | NCIT:C36272 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia with Plasmacytoid Differentiation | A chronic lymphocytic leukemia characterized by the presence of neoplastic lymphocytes with plasmacytoid morphology. | MONDO:0004948 | +| MONDO:0856891 | prostate carcinoma metastatic in the bone | NCIT:C36308 | MONDO:equivalentTo | Prostate Carcinoma Metastatic in the Bone | A carcinoma that arises from the prostate gland and has spread to the bone. | MONDO:0004956|MONDO:0024884 | +| MONDO:0856897 | oncocytic adenocarcinoma | NCIT:C3679 | MONDO:equivalentTo | Oncocytic Adenocarcinoma | An adenocarcinoma characterized by the presence of large malignant epithelial cells with abundant granular eosinophilic cytoplasm (oncocytes). Representative examples include thyroid gland oncocytic follicular carcinoma, oncocytic breast carcinoma, and salivary gland oncocytic carcinoma. | MONDO:0004970|MONDO:0010795 | +| MONDO:0856898 | sweat gland tubular carcinoma | NCIT:C3682 | MONDO:equivalentTo | Sweat Gland Tubular Carcinoma | An aggressive adenocarcinoma that arises from the sweat glands. It usually presents as a firm, erythematous nodular lesion in the axilla. Morphologically, it is characterized by the presence of tubular structures and apocrine differentiation. | MONDO:0005524|MONDO:0005606 | +| MONDO:0856899 | trabecular adenoma | NCIT:C3688 | MONDO:equivalentTo | Trabecular Adenoma | A benign epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. | MONDO:0004972 | +| MONDO:0856900 | carcinomatosis | NCIT:C3693 | MONDO:equivalentTo | Carcinomatosis | Carcinoma that has spread diffusely to an anatomic site or throughout the body. | MONDO:0024879 | +| MONDO:0856901 | papillary fibroelastoma | NCIT:C3695 | MONDO:equivalentTo | Papillary Fibroelastoma | A rare benign neoplasm of the endocardium. The vast majority of cases arise in the heart valves. Histopathologic examination reveals a papilloma lined by endothelial cells with a central avascular core which contains fibroblasts and elastic fibers. Patients may be asymptomatic or present with ischemic or embolic events. | MONDO:0021505 | +| MONDO:0856902 | meningiomatosis | NCIT:C3707 | MONDO:equivalentTo | Meningiomatosis | The presence of multiple meningiomas in the leptomeninges. | MONDO:0016642 | +| MONDO:0856905 | chronic lymphocytic leukemia with immunoglobulin heavy chain variable-region gene somatic hypermutation | NCIT:C37202 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation | Chronic lymphocytic leukemia characterized by the presence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a better prognosis as compared to those with unmutated immunoglobulin heavy chain gene variable region rearrangements. | MONDO:0004948|MONDO:0004152 | +| MONDO:0856906 | chronic lymphocytic leukemia with unmutated immunoglobulin heavy chain variable-region gene | NCIT:C37205 | MONDO:equivalentTo | Chronic Lymphocytic Leukemia with Unmutated Immunoglobulin Heavy Chain Variable-Region Gene | Chronic lymphocytic leukemia characterized by the absence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a significantly worse prognosis as compared to those with mutated immunoglobulin heavy chain gene variable region rearrangements. | MONDO:0004478|MONDO:0004948 | +| MONDO:0856907 | high grade b-cell lymphoma with blastoid morphologic features | NCIT:C37209 | MONDO:equivalentTo | High Grade B-Cell Lymphoma with Blastoid Morphologic Features | A high-grade B-cell lymphoma characterized by the presence of medium-size neoplastic lymphocytes with a scant amount of cytoplasm and inconspicuous nucleoli, resembling lymphoblasts. | MONDO:0044889 | +| MONDO:0856911 | benign kidney mixed epithelial and stromal tumor | NCIT:C37264 | MONDO:equivalentTo | Benign Kidney Mixed Epithelial and Stromal Tumor | A rare, benign neoplasm that most often manifests as a multiloculated cystic renal mass. It is characterized by the presence of solid and cystic components. The solid components contain a mixture of epithelial and stromal elements. | MONDO:0002513|MONDO:0002386 | +| MONDO:0856912 | atypical small acinar proliferation of the prostate gland | NCIT:C37268 | MONDO:equivalentTo | Atypical Small Acinar Proliferation of the Prostate Gland | Focal proliferation of small acinar glandular cells in the prostate gland with cytologic changes ranging from atypia to highly suggestive of malignancy. | MONDO:0021259 | +| MONDO:0856914 | head and neck basaloid squamous cell carcinoma | NCIT:C37290 | MONDO:equivalentTo | Head and Neck Basaloid Squamous Cell Carcinoma | A high-grade, aggressive variant of squamous cell carcinoma that arises from the head and neck region. The most common sites of origin are pyriform sinus, epiglottis, and base of tongue. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. Comedonecrosis may be present. | MONDO:0010150|MONDO:0003486 | +| MONDO:0856915 | mixed mesodermal (mullerian) tumor | NCIT:C3730 | MONDO:equivalentTo | Mixed Mesodermal (Mullerian) Tumor | A group of tumors affecting the female reproductive system, characterized by the presence of epithelial and stromal elements. It includes the following clinicopathological entities: adenofibroma, adenomyoma, Mullerian adenosarcoma, and malignant mixed mesodermal (Mullerian) tumor. | MONDO:0021148|MONDO:0021043 | +| MONDO:0856917 | abdominal (mesenteric) fibromatosis | NCIT:C3741 | MONDO:equivalentTo | Abdominal (Mesenteric) Fibromatosis | An insidious poorly circumscribed neoplasm arising from the deep soft tissues of the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern. | MONDO:0007608 | +| MONDO:0856918 | adenomatous polyp | NCIT:C3764 | MONDO:equivalentTo | Adenomatous Polyp | A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum.. | MONDO:0006180|MONDO:0021075 | +| MONDO:0856920 | giant cell carcinoma | NCIT:C3779 | MONDO:equivalentTo | Giant Cell Carcinoma | A malignant epithelial neoplasm composed of giant, pleomorphic cells. | MONDO:0005232|MONDO:0002402|MONDO:0005617 | +| MONDO:0856923 | renal cell carcinoma associated with t(x;1)(p11.2;q21) | NCIT:C37872 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) | A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;q21) resulting in fusion of the PRCC and TFE3 genes. | MONDO:0006397 | +| MONDO:0856924 | renal cell carcinoma associated with t(x;1)(p11.2;p34) | NCIT:C37874 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) | A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;p34) resulting in fusion of the PSF and TFE3 genes. | MONDO:0006397 | +| MONDO:0856925 | renal cell carcinoma associated with t(x;17)(p11.2;q25) | NCIT:C37876 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with t(X;17)(p11.2;q25) | A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;q25) resulting in fusion of the ASPL and TFE3 genes. | MONDO:0006397 | +| MONDO:0856927 | angiofibroma | NCIT:C3799 | MONDO:equivalentTo | Angiofibroma | A morphologic variant of fibroma characterized by the presence of numerous dilated vascular channels. | MONDO:0005167 | +| MONDO:0856930 | dermatofibrosarcoma protuberans with myoid differentiation | NCIT:C38105 | MONDO:equivalentTo | Dermatofibrosarcoma Protuberans with Myoid Differentiation | A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of areas of myofibroblastic differentiation. | MONDO:0011934 | +| MONDO:0856931 | myxoid dermatofibrosarcoma protuberans | NCIT:C38106 | MONDO:equivalentTo | Myxoid Dermatofibrosarcoma Protuberans | A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of extensive myxoid stroma formation and a storiform growth pattern. | MONDO:0011934 | +| MONDO:0856932 | dedifferentiated dermatofibrosarcoma protuberans | NCIT:C38107 | MONDO:equivalentTo | Dedifferentiated Dermatofibrosarcoma Protuberans | A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of poorly differentiated sarcomatous components. | MONDO:0011934 | +| MONDO:0856933 | dermatofibrosarcoma protuberans with giant cell fibroblastoma-like differentiation | NCIT:C38108 | MONDO:equivalentTo | Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like Differentiation | A morphologic variant of dermatofibrosarcoma protuberans characterized by areas of fibroblastoma like-differentiation, and the presence of giant cells. | MONDO:0011934 | +| MONDO:0856934 | skin basal cell carcinoma with adnexal differentiation | NCIT:C38109 | MONDO:equivalentTo | Skin Basal Cell Carcinoma with Adnexal Differentiation | A basal cell carcinoma of the skin that is characterized by adnexal differentiation. | MONDO:0005341 | +| MONDO:0856938 | clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres | NCIT:C38154 | MONDO:equivalentTo | Clear Cell Myomelanocytic Tumor of the Falciform Ligament/Ligamentum Teres | A very rare, usually benign neoplasm with perivascular epithelioid cell differentiation characterized by the presence of clear spindle cells arranged in fascicles and nests that usually affects young girls. Patients usually present with a painful abdominal mass. | MONDO:0006359 | +| MONDO:0856939 | metachronous malignant neoplasm | NCIT:C38156 | MONDO:equivalentTo | Metachronous Malignant Neoplasm | A malignant tumor that arises at a site separate from another, primary malignant tumor in the same anatomic system. It is not clear if metachronous malignant neoplasms represent new primary tumors or metastatic disease. Examples include metachronous osteosarcoma of the bones that develops in patients with known primary bone osteosarcoma, and metachronous Wilms' tumor that affects the opposite kidney in patients with a history of Wilms' tumor. | MONDO:0004992 | +| MONDO:0856940 | plasmablastic lymphoma of mucosa site | NCIT:C38159 | MONDO:equivalentTo | Plasmablastic Lymphoma of Mucosa Site | A plasmablastic lymphoma that arises from a mucosal site. | MONDO:0017347 | +| MONDO:0856941 | digestive system non-hodgkin lymphoma | NCIT:C38161 | MONDO:equivalentTo | Digestive System Non-Hodgkin Lymphoma | A non-Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. | MONDO:0018908|MONDO:0004699 | +| MONDO:0856942 | digestive system hodgkin lymphoma | NCIT:C38163 | MONDO:equivalentTo | Digestive System Hodgkin Lymphoma | A Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. | MONDO:0004699|MONDO:0004952 | +| MONDO:0856943 | acute myeloid leukemia with stat5b-rara | NCIT:C38377 | MONDO:equivalentTo | Acute Myeloid Leukemia with STAT5B-RARA | Acute myeloid leukemia with variant RARA rearrangement and expression of STAT5B-RARA fusion protein. | MONDO:0100375 | +| MONDO:0856945 | traditional serrated adenoma | NCIT:C38458 | MONDO:equivalentTo | Traditional Serrated Adenoma | An adenoma that arises from the large intestine and the appendix. It is characterized by prominent serration of the glands. | MONDO:0006180 | +| MONDO:0856947 | benign female breast neoplasm | NCIT:C3848 | MONDO:equivalentTo | Benign Female Breast Neoplasm | A neoplasm that arises from the breast in females and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0000620 | +| MONDO:0856948 | aggravated malignant neoplasm | NCIT:C3851 | MONDO:equivalentTo | Aggravated Malignant Neoplasm | A malignant neoplasm that shows clinical and/or pathologic progression. | MONDO:0004992 | +| MONDO:0856949 | thyroid gland sclerosing mucoepidermoid carcinoma with eosinophilia | NCIT:C38763 | MONDO:equivalentTo | Thyroid Gland Sclerosing Mucoepidermoid Carcinoma with Eosinophilia | A rare type of mucoepidermoid carcinoma of the thyroid gland, usually associated with chronic lymphocytic thyroiditis. It exhibits a unique morphologic appearance consisting of a squamoid, nested growth pattern, dense fibrosis, and mucinous differentiation. The histogenesis of this unusual carcinoma has been debated, and it is unclear if it arises from remnants of the ultimobranchial body or from the follicular epithelial cells. | MONDO:0006463 | +| MONDO:0856951 | grade 1 meningioma | NCIT:C38936 | MONDO:equivalentTo | Grade 1 Meningioma | A benign meningioma which may recur in approximately 7-20% of the cases. This category includes the angiomatous meningioma, fibrous meningioma, lymphoplasmacyte-rich meningioma, meningothelial meningioma, metaplastic meningioma, microcystic meningioma, psammomatous meningioma, secretory meningioma, and transitional meningioma. | MONDO:0016642 | +| MONDO:0856952 | compound nevus | NCIT:C3901 | MONDO:equivalentTo | Compound Nevus | A nevus composed of neoplastic melanocytes that infiltrate both the epidermis and the dermis. | MONDO:0005073 | +| MONDO:0856963 | t-cell large granular lymphocyte leukemia, common variant | NCIT:C39584 | MONDO:equivalentTo | T-Cell Large Granular Lymphocyte Leukemia, Common Variant | T-cell large granular lymphocyte leukemia defined by the presence of CD3-positive, CD8-positive, and T-cell receptor alpha-beta-positive cytotoxic T-cells. | MONDO:0019469 | +| MONDO:0856964 | t-cell large granular lymphocyte leukemia expressing the t-cell receptor gamma-delta | NCIT:C39586 | MONDO:equivalentTo | T-Cell Large Granular Lymphocyte Leukemia Expressing the T-Cell Receptor Gamma-Delta | An uncommon variant of T-cell large granular lymphocyte leukemia expressing the gamma-delta T-cell receptor. Approximately 60% of these cases are CD8-positive and the remainder are CD4/CD8-negative. | MONDO:0019469 | +| MONDO:0856966 | anaplastic large cell lymphoma, giant cell rich subtype | NCIT:C39674 | MONDO:equivalentTo | Anaplastic Large Cell Lymphoma, Giant Cell Rich Subtype | An anaplastic large cell lymphoma characterized by the presence of numerous giant cells. | MONDO:0020325 | +| MONDO:0856967 | anaplastic large cell lymphoma, sarcomatoid subtype | NCIT:C39675 | MONDO:equivalentTo | Anaplastic Large Cell Lymphoma, Sarcomatoid Subtype | A are variant of anaplastic large cell lymphoma. It is characterized by presence of large spindle shaped cells resembling a soft tissue sarcoma. | MONDO:0020325 | +| MONDO:0856968 | anaplastic large cell lymphoma, signet ring-like subtype | NCIT:C39676 | MONDO:equivalentTo | Anaplastic Large Cell Lymphoma, Signet Ring-Like Subtype | An anaplastic large cell lymphoma, characterized by lymphoid cells with signet ring nuclei. | MONDO:0020325 | +| MONDO:0856969 | pleomorphic variant mantle cell lymphoma | NCIT:C39747 | MONDO:equivalentTo | Pleomorphic Variant Mantle Cell Lymphoma | An aggressive mantle cell lymphoma characterized by the presence of pleomorphic neoplastic B-lymphocytes. | MONDO:0018876 | +| MONDO:0856970 | type ii endometrial adenocarcinoma | NCIT:C39749 | MONDO:equivalentTo | Type II Endometrial Adenocarcinoma | A classification of primary endometrial adenocarcinomas that refers to clear cell adenocarcinoma, serous adenocarcinoma, and serous endometrial intraepithelial carcinoma. | MONDO:0005461 | +| MONDO:0856971 | glioblastoma, idh-wildtype | NCIT:C39750 | MONDO:equivalentTo | Glioblastoma, IDH-Wildtype | A glioblastoma that arises de novo. It is more commonly seen in older patients. Mutations in IDH1 or IDH2 genes are not present. | MONDO:0018177 | +| MONDO:0856972 | secondary glioblastoma | NCIT:C39751 | MONDO:equivalentTo | Secondary Glioblastoma | A glioblastoma arising from a lower grade astrocytoma. | MONDO:0018177 | +| MONDO:0856973 | conventional ameloblastoma | NCIT:C39755 | MONDO:equivalentTo | Conventional Ameloblastoma | An intraosseous ameloblastoma that arises from the jaw, usually the mandible. It grows slowly, invades locally, and recurs frequently. It presents with swelling of the jaw. | MONDO:0017795 | +| MONDO:0856974 | unicystic ameloblastoma | NCIT:C39756 | MONDO:equivalentTo | Unicystic Ameloblastoma | An ameloblastoma that presents as a unilocular cyst. It usually arises from the mandible. | MONDO:0021077|MONDO:0017795 | +| MONDO:0856975 | renal cell carcinoma with constitutional chromosome 3 translocations | NCIT:C39790 | MONDO:equivalentTo | Renal Cell Carcinoma with Constitutional Chromosome 3 Translocations | A renal cell carcinoma with constitutional chromosome 3 translocations. | MONDO:0003008 | +| MONDO:0856976 | renal cell carcinoma associated with inv(x)(p11;q12) | NCIT:C39802 | MONDO:equivalentTo | Renal Cell Carcinoma Associated with inv(X)(p11;q12) | A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the inv(X)(p11;q12) resulting in fusion of the NONO (p54nrb) and TFE3 genes. | MONDO:0006397 | +| MONDO:0856980 | invasive bladder sarcomatoid urothelial carcinoma with heterologous elements | NCIT:C39825 | MONDO:equivalentTo | Invasive Bladder Sarcomatoid Urothelial Carcinoma with Heterologous Elements | Invasive bladder sarcomatoid urothelial carcinoma characterized by the presence of heterologous elements. | MONDO:0004278 | +| MONDO:0856981 | invasive bladder sarcomatoid urothelial carcinoma without heterologous elements | NCIT:C39826 | MONDO:equivalentTo | Invasive Bladder Sarcomatoid Urothelial Carcinoma without Heterologous Elements | Invasive bladder sarcomatoid urothelial carcinoma characterized by the absence of heterologous elements. | MONDO:0004278 | +| MONDO:0856984 | bladder adenocarcinoma, not otherwise specified | NCIT:C39836 | MONDO:equivalentTo | Bladder Adenocarcinoma, Not Otherwise Specified | An adenocarcinoma, not otherwise specified, arising from the bladder. | MONDO:0002751 | +| MONDO:0856986 | human papillomavirus-related urethral squamous cell carcinoma | NCIT:C39862 | MONDO:equivalentTo | Human Papillomavirus-Related Urethral Squamous Cell Carcinoma | A rare urethral squamous cell carcinoma that is related to human papilloma virus (HPV) infection of the urinary tract. | MONDO:0002764|MONDO:0020657 | +| MONDO:0856987 | bladder mucosa-associated lymphoid tissue lymphoma | NCIT:C39878 | MONDO:equivalentTo | Bladder Mucosa-Associated Lymphoid Tissue Lymphoma | A rare mucosa-associated lymphoid tissue lymphoma affecting the bladder. | MONDO:0001381|MONDO:0007650 | +| MONDO:0856988 | prostate acinar adenocarcinoma, atrophic pattern | NCIT:C39880 | MONDO:equivalentTo | Prostate Acinar Adenocarcinoma, Atrophic Pattern | An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm. | MONDO:0002493 | +| MONDO:0856989 | prostate acinar pseudohyperplastic adenocarcinoma | NCIT:C39881 | MONDO:equivalentTo | Prostate Acinar Pseudohyperplastic Adenocarcinoma | Acinar prostate adenocarcinoma characterized by the presence of neoplastic large glands that resemble the benign, non-neoplastic prostate glands. | MONDO:0002493 | +| MONDO:0856991 | prostatic duct urothelial carcinoma | NCIT:C39901 | MONDO:equivalentTo | Prostatic Duct Urothelial Carcinoma | An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts. | MONDO:0002834 | +| MONDO:0856992 | testicular seminoma with syncytiotrophoblastic cells | NCIT:C39919 | MONDO:equivalentTo | Testicular Seminoma with Syncytiotrophoblastic Cells | A testicular seminoma characterized by the presence of syncytiotrophoblastic giant cells. | MONDO:0003669 | +| MONDO:0856994 | testicular seminoma with high mitotic index | NCIT:C39920 | MONDO:equivalentTo | Testicular Seminoma with High Mitotic Index | A seminoma of the testis characterized by increased cellular pleomorphism, high mitotic activity, and a non-prominent stromal lymphocytic infiltrate. | MONDO:0020633|MONDO:0003669 | +| MONDO:0856995 | testicular spermatocytic tumor with sarcoma | NCIT:C39922 | MONDO:equivalentTo | Testicular Spermatocytic Tumor with Sarcoma | A malignant germ cell tumor that arises from the testis and is characterized by the presence of a spermatocytic tumor component that is contiguous with an undifferentiated or differentiated sarcomatous component. It usually presents as a slowly growing mass that enlarges very rapidly soon after the initial diagnosis. | MONDO:0020513 | +| MONDO:0856996 | monodermal testicular teratoma | NCIT:C39936 | MONDO:equivalentTo | Monodermal Testicular Teratoma | A teratoma that arises from the testis. It is composed exclusively of one of the following tissue types: endoderm, ectoderm, or mesoderm. | MONDO:0018193 | +| MONDO:0856997 | testicular sertoli cell tumor, lipid rich variant | NCIT:C39943 | MONDO:equivalentTo | Testicular Sertoli Cell Tumor, Lipid Rich Variant | A testicular Sertoli cell tumor in which the neoplastic cells have clear and vacuolated cytoplasm due to accumulation of intracytoplasmic lipids. | MONDO:0020813 | +| MONDO:0856998 | testicular large cell calcifying sertoli cell tumor | NCIT:C39944 | MONDO:equivalentTo | Testicular Large Cell Calcifying Sertoli Cell Tumor | A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma. Malignant behavior is uncommon. | MONDO:0020808 | +| MONDO:0856999 | testicular sclerosing sertoli cell tumor | NCIT:C39945 | MONDO:equivalentTo | Testicular Sclerosing Sertoli Cell Tumor | A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma. | MONDO:0020813 | +| MONDO:0857002 | tumor of the thecoma/fibroma group | NCIT:C39950 | MONDO:equivalentTo | Tumor of the Thecoma/Fibroma Group | A sex cord-stromal tumor that arises from the ovary or the testis. Representative examples include fibroma, fibrosarcoma, and thecoma. | MONDO:0006055 | +| MONDO:0857004 | moderately differentiated ovarian sertoli-leydig cell tumor | NCIT:C39968 | MONDO:equivalentTo | Moderately Differentiated Ovarian Sertoli-Leydig Cell Tumor | A Sertoli-Leydig cell tumor of the ovary characterized by the presence of spindle-shaped gonadal stromal cells and Sertoli cells, some of which are atypical. Leydig cells are also present forming clusters at the periphery of the cellular aggregates. Metastases have been reported in a minority of patients. | MONDO:0036595 | +| MONDO:0857005 | ovarian sertoli-leydig cell tumor with heterologous elements | NCIT:C39970 | MONDO:equivalentTo | Ovarian Sertoli-Leydig Cell Tumor with Heterologous Elements | A Sertoli-Leydig cell tumor that arises from the ovary. It is characterized by the presence of epithelial and/or mesenchymal components and neoplasms that arise from these components. | MONDO:0036595 | +| MONDO:0857006 | ovarian retiform sertoli-leydig cell tumor | NCIT:C39971 | MONDO:equivalentTo | Ovarian Retiform Sertoli-Leydig Cell Tumor | A Sertoli-Leydig cell tumor of the ovary in which anastomosing, slit-like spaces resembling rete testis constitute at least 90% of the tumor elements. It may present with estrogenic and less often androgenic manifestations. It usually follows a benign clinical course. | MONDO:0036595 | +| MONDO:0857007 | ovarian sertoli-leydig cell tumor with retiform elements | NCIT:C39974 | MONDO:equivalentTo | Ovarian Sertoli-Leydig Cell Tumor with Retiform Elements | A Sertoli-Leydig cell tumor characterized by the presence of spaces that resemble rete testis (retiform elements). These spaces form anastomosing patterns and comprise at least ten percent but less than ninety percent of the tumor. When the retiform elements comprise ninety percent or more of the tumor, the term retiform Sertoli-Leydig cell tumor is used. A minority of patients may have an aggressive clinical course. | MONDO:0036595 | +| MONDO:0857008 | ovarian stromal-leydig cell tumor | NCIT:C39977 | MONDO:equivalentTo | Ovarian Stromal-Leydig Cell Tumor | A rare, benign and well circumscribed stromal tumor of the ovary. It is characterized by the presence of a fibrotic stroma with clusters of Leydig cells. The Leydig cells contain crystals of Reinke. Patients may present with virilization. | MONDO:0024387|MONDO:0020807 | +| MONDO:0857009 | ovarian sex cord-stromal tumor, not otherwise specified | NCIT:C39978 | MONDO:equivalentTo | Ovarian Sex Cord-Stromal Tumor, Not Otherwise Specified | A sex cord-stromal tumor that arises from the ovary and lacks the morphologic features that belong to the categories of granulosa-stromal tumors, Sertoli-stromal tumors, or steroid cell tumors. | MONDO:0021657 | +| MONDO:0857012 | malignant ovarian teratoma | NCIT:C39995 | MONDO:equivalentTo | Malignant Ovarian Teratoma | A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements. | MONDO:0003514|MONDO:0003821|MONDO:0018171 | +| MONDO:0857014 | borderline ovarian serous tumor/atypical proliferative ovarian serous tumor with microinvasion | NCIT:C40027 | MONDO:equivalentTo | Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor with Microinvasion | A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic serous epithelial cells, atypia, and microinvasion of the ovarian stroma. | MONDO:0037255 | +| MONDO:0857015 | borderline ovarian serous adenofibroma | NCIT:C40028 | MONDO:equivalentTo | Borderline Ovarian Serous Adenofibroma | A low malignant potential adenofibroma arising from the ovary. It is characterized by an atypical epithelial hyperplasia. The epithelial cells are of serous type. There is no evidence of stromal destructive invasion. | MONDO:0024886|MONDO:0003462|MONDO:0020662 | +| MONDO:0857016 | borderline ovarian mucinous tumor | NCIT:C40036 | MONDO:equivalentTo | Borderline Ovarian Mucinous Tumor | A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type. | MONDO:0003756|MONDO:0016093 | +| MONDO:0857017 | ovarian mucinous cystic tumor with mural nodules | NCIT:C40042 | MONDO:equivalentTo | Ovarian Mucinous Cystic Tumor with Mural Nodules | A mucinous cystic tumor of the ovary characterized by the presence of one or more well circumscribed solid nodules in the wall of the cysts (mural nodules) that protrude into the lumen. The mural nodules may be benign (sarcoma-like) or malignant. The malignant mural nodules histologically are anaplastic carcinomas, carcinosarcomas, or sarcomas. The clinical course depends on the histology of the mural nodules. The prognosis of mucinous cystic tumors with benign mural nodules is the same as the corresponding types of mucinous cystic tumors without the mural nodules. Mucinous cystic tumors with malignant mural nodules may follow a malignant clinical course. | MONDO:0003756 | +| MONDO:0857018 | ovarian mucinous cystic tumor associated with pseudomyxoma peritonei | NCIT:C40043 | MONDO:equivalentTo | Ovarian Mucinous Cystic Tumor Associated with Pseudomyxoma Peritonei | The presence of abundant mucoid or gelatinous, cellular or acellular material in the pelvis and abdominal cavity (pseudomyxoma peritonei) that is associated with the presence of an ovarian mucinous cystic tumor. In the vast majority of cases, the presence of pseudomyxoma peritonei is the result of metastasis from a primary appendiceal or gastrointestinal tumor site, and the ovarian mucinous tumor is metastatic rather than primary. | MONDO:0003756 | +| MONDO:0857022 | borderline ovarian clear cell tumor | NCIT:C40080 | MONDO:equivalentTo | Borderline Ovarian Clear Cell Tumor | An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion. | MONDO:0021144|MONDO:0016093 | +| MONDO:0857025 | fallopian tube serous neoplasm | NCIT:C40102 | MONDO:equivalentTo | Fallopian Tube Serous Neoplasm | A benign, borderline, or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic serous epithelial cells. | MONDO:0037256|MONDO:0021092 | +| MONDO:0857028 | fallopian tube endometrioid polyp | NCIT:C40115 | MONDO:equivalentTo | Fallopian Tube Endometrioid Polyp | An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium. It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy. | MONDO:0021075|MONDO:0021576 | +| MONDO:0857029 | fallopian tube metaplastic papillary tumor | NCIT:C40116 | MONDO:equivalentTo | Fallopian Tube Metaplastic Papillary Tumor | A rare metaplastic lesion that arises from the fallopian tube. It is characterized by the presence of an intraluminal papillary proliferation composed of atypical epithelial cells with abundant eosinophilic cytoplasm. In the vast majority of cases, it is an incidental finding during microscopic examination of a fallopian tube in the postpartum period. | MONDO:0021096|MONDO:0000645|MONDO:0036976 | +| MONDO:0857030 | fallopian tube soft tissue neoplasm | NCIT:C40126 | MONDO:equivalentTo | Fallopian Tube Soft Tissue Neoplasm | A benign or malignant mesenchymal neoplasm of the fallopian tube. Representative examples include leiomyoma and leiomyosarcoma. | MONDO:0006424|MONDO:0021092 | +| MONDO:0857031 | type i endometrial adenocarcinoma | NCIT:C40145 | MONDO:equivalentTo | Type I Endometrial Adenocarcinoma | A classification of primary endometrial adenocarcinomas that refers to endometrioid adenocarcinoma and mucinous adenocarcinoma. | MONDO:0005461 | +| MONDO:0857033 | figo grade 1 endometrial mucinous adenocarcinoma | NCIT:C40149 | MONDO:equivalentTo | FIGO Grade 1 Endometrial Mucinous Adenocarcinoma | A primary mucinous adenocarcinoma of the endometrium that contains equal to or less than 5% non-squamous solid areas. | MONDO:0002747 | +| MONDO:0857034 | figo grade 2 endometrial mucinous adenocarcinoma | NCIT:C40150 | MONDO:equivalentTo | FIGO Grade 2 Endometrial Mucinous Adenocarcinoma | A primary mucinous adenocarcinoma of the endometrium that contains 6-50% non-squamous solid areas. | MONDO:0002747 | +| MONDO:0857035 | figo grade 3 endometrial mucinous adenocarcinoma | NCIT:C40151 | MONDO:equivalentTo | FIGO Grade 3 Endometrial Mucinous Adenocarcinoma | A primary mucinous adenocarcinoma of the endometrium that contains more than 50% non-squamous solid areas. | MONDO:0002747 | +| MONDO:0857036 | uterine corpus leiomyoma, mitotically active variant | NCIT:C40162 | MONDO:equivalentTo | Uterine Corpus Leiomyoma, Mitotically Active Variant | A morphologic variant of uterine corpus leiomyoma characterized by an increased number of mitoses (up to 19 mitoses per 10 high-powered fields). | MONDO:0007886 | +| MONDO:0857037 | uterine corpus soft tissue neoplasm | NCIT:C40179 | MONDO:equivalentTo | Uterine Corpus Soft Tissue Neoplasm | A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma. | MONDO:0021254|MONDO:0006424 | +| MONDO:0857039 | cervical squamous neoplasm | NCIT:C40195 | MONDO:equivalentTo | Cervical Squamous Neoplasm | A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the cervix. Representative examples include condyloma acuminatum, cervical intraepithelial neoplasia, and squamous cell carcinoma. | MONDO:0002532|MONDO:0021230 | +| MONDO:0857040 | cervical glandular neoplasm | NCIT:C40210 | MONDO:equivalentTo | Cervical Glandular Neoplasm | A benign, malignant, or precancerous neoplasm that arises from the glandular epithelium of the cervix. Representative examples include endocervical polyp, cervical adenocarcinoma, and cervical glandular intraepithelial neoplasia. | MONDO:0024276|MONDO:0021230 | +| MONDO:0857041 | cervical soft tissue neoplasm | NCIT:C40216 | MONDO:equivalentTo | Cervical Soft Tissue Neoplasm | A benign or malignant mesenchymal neoplasm of the cervix. Representative examples include rhabdomyoma, alveolar soft part sarcoma, and AIDS-related Kaposi sarcoma. | MONDO:0006424|MONDO:0021230 | +| MONDO:0857043 | cervical mixed epithelial and mesenchymal neoplasm | NCIT:C40226 | MONDO:equivalentTo | Cervical Mixed Epithelial and Mesenchymal Neoplasm | A benign or malignant neoplasm that arises from the cervix and is characterized by the presence of epithelial and mesenchymal elements. This category includes adenofibroma, adenomyoma, adenosarcoma, and carcinosarcoma. | MONDO:0021043|MONDO:0021230 | +| MONDO:0857045 | vaginal keratinizing squamous cell carcinoma | NCIT:C40243 | MONDO:equivalentTo | Vaginal Keratinizing Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the vagina and is characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. | MONDO:0005056|MONDO:0006490 | +| MONDO:0857046 | vaginal basaloid squamous cell carcinoma | NCIT:C40245 | MONDO:equivalentTo | Vaginal Basaloid Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the vagina and is characterized by the presence of nests of malignant basaloid squamous cells with scant amounts of cytoplasm. | MONDO:0003486|MONDO:0006490 | +| MONDO:0857047 | vaginal endometrioid adenocarcinoma | NCIT:C40251 | MONDO:equivalentTo | Vaginal Endometrioid Adenocarcinoma | A rare adenocarcinoma that arises from the vagina with histologic features resembling the endometrioid adenocarcinoma of the endometrium. | MONDO:0020653|MONDO:0005026 | +| MONDO:0857048 | vaginal mucinous adenocarcinoma | NCIT:C40252 | MONDO:equivalentTo | Vaginal Mucinous Adenocarcinoma | A rare adenocarcinoma that arises from the vagina with histologic features resembling cervical mucinous adenocarcinoma. | MONDO:0020653|MONDO:0004957 | +| MONDO:0857049 | vaginal mesonephric adenocarcinoma | NCIT:C40253 | MONDO:equivalentTo | Vaginal Mesonephric Adenocarcinoma | Vaginal adenocarcinoma that derives from Wolffian duct remnants and shows mesonephric differentiation. | MONDO:0020653|MONDO:0005613 | +| MONDO:0857050 | vaginal adenosquamous carcinoma | NCIT:C40260 | MONDO:equivalentTo | Vaginal Adenosquamous Carcinoma | A carcinoma that arises from the vagina and is characterized by the presence of malignant glandular and malignant squamous epithelial components. | MONDO:0006074|MONDO:0015867 | +| MONDO:0857051 | vaginal adenoid basal carcinoma | NCIT:C40262 | MONDO:equivalentTo | Vaginal Adenoid Basal Carcinoma | A carcinoma that arises from the vagina and is characterized by the presence of nests of basaloid cells with focal glandular formations. | MONDO:0015867 | +| MONDO:0857052 | vaginal undifferentiated carcinoma | NCIT:C40264 | MONDO:equivalentTo | Vaginal Undifferentiated Carcinoma | A carcinoma that arises from the vagina and is characterized by the lack of specific cellular differentiation. | MONDO:0015867|MONDO:0005617 | +| MONDO:0857053 | vaginal soft tissue neoplasm | NCIT:C40265 | MONDO:equivalentTo | Vaginal Soft Tissue Neoplasm | A benign or malignant mesenchymal neoplasm that arises from the vagina. Representative examples include leiomyoma, rhabdomyoma, leiomyosarcoma, endometrioid stromal sarcoma, and botryoid-type embryonal rhabdomyosarcoma. | MONDO:0021050|MONDO:0006424 | +| MONDO:0857056 | vaginal mixed epithelial and mesenchymal neoplasm | NCIT:C40274 | MONDO:equivalentTo | Vaginal Mixed Epithelial and Mesenchymal Neoplasm | A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of epithelial and mesenchymal elements. This category includes benign mixed tumor, adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. | MONDO:0021043|MONDO:0021050 | +| MONDO:0857057 | malignant vaginal mixed tumor resembling synovial sarcoma | NCIT:C40279 | MONDO:equivalentTo | Malignant Vaginal Mixed Tumor Resembling Synovial Sarcoma | A very rare malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and resembles synovial sarcoma. It is characterized by a biphasic pattern and is composed of gland-like structures that are lined by epithelial cells and a cellular mesenchymal component. | MONDO:0037746 | +| MONDO:0857058 | vulvar squamous cell carcinoma with tumor giant cells | NCIT:C40289 | MONDO:equivalentTo | Vulvar Squamous Cell Carcinoma with Tumor Giant Cells | An aggressive squamous cell carcinoma that arises from the vulva and is characterized by the prominence of malignant giant cells. | MONDO:0024609 | +| MONDO:0857059 | vulvar neoplasm of skin appendage origin | NCIT:C40303 | MONDO:equivalentTo | Vulvar Neoplasm of Skin Appendage Origin | A benign or malignant vulvar neoplasm with differentiating characteristics towards sweat or sebaceous glands or hair follicles. Representative examples include trichoepithelioma, syringoma, and eccrine adenocarcinoma. | MONDO:0002297|MONDO:0021049 | +| MONDO:0857061 | vulvar soft tissue neoplasm | NCIT:C40316 | MONDO:equivalentTo | Vulvar Soft Tissue Neoplasm | A benign or malignant mesenchymal neoplasm of the vulva. Representative examples include leiomyoma, cellular angiofibroma, angiomyxoma, leiomyosarcoma, liposarcoma, and childhood botryoid-type embryonal rhabdomyosarcoma. | MONDO:0021049|MONDO:0006424 | +| MONDO:0857062 | superficial angiomyxoma | NCIT:C40323 | MONDO:equivalentTo | Superficial Angiomyxoma | An angiomyxoma arising from the dermis or subcutaneous tissues. It may recur following resection. | MONDO:0006086 | +| MONDO:0857067 | vulvar melanocytic neoplasm | NCIT:C40335 | MONDO:equivalentTo | Vulvar Melanocytic Neoplasm | A neoplasm that originates from melanocytes and arises from the vulva. This category includes congenital and acquired melanocytic nevus, blue nevus, dysplastic melanocytic nevus, atypical melanocytic nevus of genital type, and melanoma. | MONDO:0021143|MONDO:0021049 | +| MONDO:0857071 | breast carcinoma with osteoclast-like stromal giant cells | NCIT:C40349 | MONDO:equivalentTo | Breast Carcinoma with Osteoclast-Like Stromal Giant Cells | An invasive breast adenocarcinoma characterised by the presence of non-neoplastic stromal osteoclastic giant cells. The carcinomatous component is usually an invasive ductal carcinoma, although all other breast adenocarcinoma subtypes have also been described. The prognosis depends on the characteristics of the adenocarcinomatous component, and is not related to the presence of the giant cells. | MONDO:0004953 | +| MONDO:0857072 | breast carcinoma with choriocarcinomatous features | NCIT:C40350 | MONDO:equivalentTo | Breast Carcinoma with Choriocarcinomatous Features | An invasive ductal breast carcinoma, not otherwise specified, characterized by increased levels of human beta-chorionic gonadotropin in the serum. Morphologic evidence of choriocarcinomatous differentiation is rare. | MONDO:0004953 | +| MONDO:0857073 | breast carcinoma with melanotic features | NCIT:C40351 | MONDO:equivalentTo | Breast Carcinoma with Melanotic Features | A very rare primary malignant tumor of the breast, characterized by an invasive breast carcinoma that co-exists with a melanoma component. The vast majority of melanotic tumors that affect the breast are metastatic melanomas that originate in extra-mammary sites. | MONDO:0004953 | +| MONDO:0857075 | low grade breast adenosquamous carcinoma | NCIT:C40362 | MONDO:equivalentTo | Low Grade Breast Adenosquamous Carcinoma | A low grade metaplastic carcinoma of the breast with morphologic features similar to the adenosquamous carcinoma of the skin. In the majority of cases the prognosis is excellent. | MONDO:0003548 | +| MONDO:0857076 | acute myeloid leukemia arising from previous myelodysplastic syndrome | NCIT:C4037 | MONDO:equivalentTo | Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | An acute myeloid leukemia developing in patients with a prior history of myelodysplastic syndrome. | MONDO:0019457 | +| MONDO:0857078 | postradiation breast angiosarcoma | NCIT:C40378 | MONDO:equivalentTo | Postradiation Breast Angiosarcoma | A malignant vascular neoplasm arising from the skin of the breast secondary to radiation treatment for breast cancer. | MONDO:0003024 | +| MONDO:0857080 | salivary gland myoepithelial tumor | NCIT:C40393 | MONDO:equivalentTo | Salivary Gland Myoepithelial Tumor | A benign or malignant tumor that arises from the salivary glands. It is characterized by the presence of neoplastic cells with myoepithelial differentiation. This category includes benign myoepithelioma and myoepithelial carcinoma. | MONDO:0002380|MONDO:0021357 | +| MONDO:0857083 | breast soft tissue neoplasm | NCIT:C40406 | MONDO:equivalentTo | Breast Soft Tissue Neoplasm | A benign, intermediate, or malignant mesenchymal neoplasm that arises from the breast. | MONDO:0006424|MONDO:0021100 | +| MONDO:0857084 | breast pleomorphic adenoma | NCIT:C40408 | MONDO:equivalentTo | Breast Pleomorphic Adenoma | A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial and myoepithelial cells surrounded by chondroid stroma. | MONDO:0008401|MONDO:0002058 | +| MONDO:0857089 | ovarian sex cord-stromal tumor associated with peutz-jeghers syndrome | NCIT:C40436 | MONDO:equivalentTo | Ovarian Sex Cord-Stromal Tumor Associated with Peutz-Jeghers Syndrome | A sex cord-stromal tumor that arises from the ovary in a patient diagnosed with Peutz-Jeghers syndrome. | MONDO:0021657 | +| MONDO:0857091 | esophageal polyp | NCIT:C4057 | MONDO:equivalentTo | Esophageal Polyp | A benign intraluminal polypoid neoplasm of the esophagus. It includes the squamous papilloma and the giant fibrovascular polyp. | MONDO:0021459|MONDO:0024292 | +| MONDO:0857095 | polycythemia vera, polycythemic phase | NCIT:C41232 | MONDO:equivalentTo | Polycythemia Vera, Polycythemic Phase | Polycythemia vera characterized by the proliferation of the erythroid, granulocytic, and megakaryocytic lineages. The peripheral blood shows excess of red blood cells, neutrophilia, and thrombocytosis. The bone marrow is hypercellular for the patient's age. | MONDO:0009891 | +| MONDO:0857096 | polycythemia vera, post-polycythemic myelofibrosis phase | NCIT:C41233 | MONDO:equivalentTo | Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase | Progression of polycythemia vera characterized by decreased erythropoiesis and granulopoiesis, reticulin and collagen fibrosis of the bone marrow, leucoerythroblastic reaction in the peripheral blood, poikilocytosis, tear-drop shaped red blood cells, and splenomegaly. | MONDO:0009891 | +| MONDO:0857097 | overt primary myelofibrosis | NCIT:C41238 | MONDO:equivalentTo | Overt Primary Myelofibrosis | Primary myelofibrosis characterized by reticulin or collagen fibrosis in the bone marrow. The bone marrow is usually normocellular or hypocellular. Myeloblasts account for less than 10% of the bone marrow cells. Atypical megakaryocytes are present. | MONDO:0009692 | +| MONDO:0857098 | metastatic adenocarcinoma | NCIT:C4124 | MONDO:equivalentTo | Metastatic Adenocarcinoma | An adenocarcinoma that has spread from its original site of growth to another anatomic site. | MONDO:0004970|MONDO:0024879 | +| MONDO:0857100 | solid carcinoma | NCIT:C4137 | MONDO:equivalentTo | Solid Carcinoma | A carcinoma morphologically characterized by the presence of solid sheets of malignant epithelial cells in tissues. | MONDO:0004993 | +| MONDO:0857101 | basophilic adenocarcinoma | NCIT:C4150 | MONDO:equivalentTo | Basophilic Adenocarcinoma | A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. | MONDO:0004970 | +| MONDO:0857102 | juxtaglomerular cell tumor | NCIT:C4162 | MONDO:equivalentTo | Juxtaglomerular Cell Tumor | A benign, well circumscribed neoplasm arising from the cortex of the kidney. It secrets renin and the patients usually present with severe hypertension and marked hypokalemia. Morphologically, it is characterized by the presence of sheets of polygonal or spindle-shaped neoplastic cells forming a hemangiopericytic pattern. | MONDO:0002513 | +| MONDO:0857103 | adrenal cortical compact cell adenoma | NCIT:C4163 | MONDO:equivalentTo | Adrenal Cortical Compact Cell Adenoma | An adenoma of the adrenal cortex composed of neoplastic compact cells with eosinophilic cytoplasm. | MONDO:0003924 | +| MONDO:0857104 | pigmented adrenal cortical adenoma | NCIT:C4164 | MONDO:equivalentTo | Pigmented Adrenal Cortical Adenoma | A usually functioning adenoma of the adrenal cortex. Grossly, it has a dark brown appearance and is characterized by the presence of neoplastic cells containing abundant intracytoplasmic lipofuscin. It may be associated with Cushing syndrome. | MONDO:0003924 | +| MONDO:0857105 | adrenal cortical clear cell adenoma | NCIT:C4165 | MONDO:equivalentTo | Adrenal Cortical Clear Cell Adenoma | An adenoma of the adrenal cortex composed of neoplastic clear cells containing intracytoplasmic lipid droplets. | MONDO:0003924|MONDO:0003426 | +| MONDO:0857106 | adrenal cortical glomerulosa cell adenoma | NCIT:C4166 | MONDO:equivalentTo | Adrenal Cortical Glomerulosa Cell Adenoma | An adenoma of the adrenal cortex composed of neoplastic cells with cytologic features of glomerulosa cells. | MONDO:0003924 | +| MONDO:0857107 | adrenal cortical mixed cell adenoma | NCIT:C4167 | MONDO:equivalentTo | Adrenal Cortical Mixed Cell Adenoma | An adenoma of the adrenal cortex composed of a mixed neoplastic cellular population, including varying numbers of neoplastic clear and compact cells. | MONDO:0003421|MONDO:0003924 | +| MONDO:0857109 | papillary serous cystadenoma | NCIT:C4180 | MONDO:equivalentTo | Papillary Serous Cystadenoma | A serous benign or low malignant potential cystic epithelial neoplasm characterized by the presence of glandular epithelial cells forming papillary structures. | MONDO:0005177|MONDO:0021091 | +| MONDO:0857110 | serous surface papillary carcinoma | NCIT:C4182 | MONDO:equivalentTo | Serous Surface Papillary Carcinoma | An invasive serous adenocarcinoma arising from the ovary and rarely the peritoneum. Morphologically, it may be a well, moderately, or poorly differentiated neoplasm. It is characterized by a papillary growth pattern often associated with the presence of psammoma bodies. | MONDO:0005278|MONDO:0002512 | +| MONDO:0857111 | papillary mucinous cystadenoma | NCIT:C4184 | MONDO:equivalentTo | Papillary Mucinous Cystadenoma | A usually benign and less often low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It is characterized by the presence of papillary structures. | MONDO:0021091|MONDO:0006859 | +| MONDO:0857112 | gliomatosis cerebri type i | NCIT:C41842 | MONDO:equivalentTo | Gliomatosis Cerebri Type I | A classic form of gliomatosis cerebri. It is characterized by diffuse growth of neoplastic glial tissue without any focal mass. | MONDO:0016683 | +| MONDO:0857113 | gliomatosis cerebri type ii | NCIT:C41843 | MONDO:equivalentTo | Gliomatosis Cerebri Type II | A classic form of gliomatosis cerebri. It is characterized by diffuse growth of neoplastic glial tissue without any focal mass. | MONDO:0016683 | +| MONDO:0857115 | thyroid gland medullary carcinoma with amyloid stroma | NCIT:C4193 | MONDO:equivalentTo | Thyroid Gland Medullary Carcinoma with Amyloid Stroma | A medullary thyroid gland carcinoma characterized by the presence of amyloid stroma. The majority of medullary carcinomas of the thyroid gland are associated with amyloid deposits. The latter are highlighted with Congo red staining method. | MONDO:0015277 | +| MONDO:0857117 | acinar cell neoplasm | NCIT:C4197 | MONDO:equivalentTo | Acinar Cell Neoplasm | A benign or malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. It includes the acinar cell adenoma and acinar cell carcinoma. | MONDO:0024276 | +| MONDO:0857118 | ovarian luteinized thecoma | NCIT:C4203 | MONDO:equivalentTo | Ovarian Luteinized Thecoma | A variant of ovarian thecoma characterized by the presence of lutein cells. It is associated with a lower frequency of estrogenic manifestations compared to typical thecomas. In a minority of cases androgenic manifestations are present. | MONDO:0037253 | +| MONDO:0857119 | undifferentiated neuroblastoma | NCIT:C42046 | MONDO:equivalentTo | Undifferentiated Neuroblastoma | A neuroblastoma characterized by the absence of differentiating neuroblasts. | MONDO:0005072 | +| MONDO:0857120 | poorly differentiated neuroblastoma | NCIT:C42047 | MONDO:equivalentTo | Poorly Differentiated Neuroblastoma | A neuroblastoma in which the differentiating neuroblasts constitute less than five-percent of the tumor cells. | MONDO:0005072 | +| MONDO:0857121 | malignant granulosa cell tumor | NCIT:C4205 | MONDO:equivalentTo | Malignant Granulosa Cell Tumor | A granulosa cell tumor which has an aggressive clinical course and metastasizes to other anatomic sites. | MONDO:0006036 | +| MONDO:0857122 | maturing ganglioneuroma | NCIT:C42064 | MONDO:equivalentTo | Maturing Ganglioneuroma | A ganglioneuroma characterized by the presence of differentiating neuroblasts, maturing and mature ganglion cells. | MONDO:0005033 | +| MONDO:0857123 | mature ganglioneuroma | NCIT:C42065 | MONDO:equivalentTo | Mature Ganglioneuroma | A ganglioneuroma characterized by the presence of mature ganglion cells and a mature Schwannian stroma. | MONDO:0005033 | +| MONDO:0857125 | ovarian sex cord tumor with annular tubules | NCIT:C4208 | MONDO:equivalentTo | Ovarian Sex Cord Tumor with Annular Tubules | An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course. | MONDO:0021657 | +| MONDO:0857126 | well differentiated ovarian sertoli-leydig cell tumor | NCIT:C4209 | MONDO:equivalentTo | Well Differentiated Ovarian Sertoli-Leydig Cell Tumor | A Sertoli-Leydig tumor of the ovary characterized by the presence of Sertoli cells in tubules without evidence of significant nuclear atypia or mitotic activity. Primitive gonadal stromal cells are not present. It usually follows a benign clinical course. | MONDO:0036595 | +| MONDO:0857127 | poorly differentiated ovarian sertoli-leydig cell tumor | NCIT:C4210 | MONDO:equivalentTo | Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor | A Sertoli-Leydig tumor of the ovary characterized by the presence of a sarcomatoid stroma which contains primitive gonadal stromal cells. It may behave in a malignant fashion and metastasize to other anatomic sites. | MONDO:0018172|MONDO:0036595 | +| MONDO:0857128 | ovarian steroid cell tumor | NCIT:C4215 | MONDO:equivalentTo | Ovarian Steroid Cell Tumor | An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course. | MONDO:0021657 | +| MONDO:0857129 | balloon cell nevus | NCIT:C4226 | MONDO:equivalentTo | Balloon Cell Nevus | An uncommon variant of melanocytic nevus. It presents as a small pigmented skin lesion. It is characterized by the presence of large melanocytes with clear, foamy or finely vacuolated cytoplasm. It may recur if it is not completely excised. | MONDO:0044794 | +| MONDO:0857130 | regressing melanoma | NCIT:C4228 | MONDO:equivalentTo | Regressing Melanoma | A skin lesion characterized by the disappearance of the melanoma cells from the primary melanoma site. The disappearance of the malignant cells is associated with fibroplasia of the papillary dermis. According to some authors, complete regression of the primary melanoma may occur in 4-8% of patients. | MONDO:0005105 | +| MONDO:0857131 | neuronevus | NCIT:C4229 | MONDO:equivalentTo | Neuronevus | An intradermal nevus characterized by the presence of nests of atrophic nevus cells which are hyalinized and resemble nerve bundles. | MONDO:0006813 | +| MONDO:0857132 | junctional nevus | NCIT:C4231 | MONDO:equivalentTo | Junctional Nevus | A nevus characterized by the presence of an intraepidermal proliferation of nevus cells. The nevus cells form multiple nests in the dermal-epidermal junction. It presents as a small, slightly raised, pigmented skin lesion. | MONDO:0005073 | +| MONDO:0857133 | melanoma in junctional nevus | NCIT:C4232 | MONDO:equivalentTo | Melanoma in Junctional Nevus | A melanoma arising from a melanocytic nevus which involves the dermal-epidermal junction of the skin. | MONDO:0005012 | +| MONDO:0857134 | type a spindle cell melanoma | NCIT:C4238 | MONDO:equivalentTo | Type A Spindle Cell Melanoma | A melanoma characterized by the presence of malignant spindle-shaped melanocytes with slender nuclei and no visible nucleoli. Representative example is the type A spindle cell uveal melanoma. | MONDO:0006427 | +| MONDO:0857135 | type b spindle cell melanoma | NCIT:C4239 | MONDO:equivalentTo | Type B Spindle Cell Melanoma | A melanoma characterized by the presence of malignant spindle-shaped melanocytes with larger nuclei and distinct nucleoli. Representative example is the type B spindle cell uveal melanoma. | MONDO:0006427 | +| MONDO:0857136 | melanoma arising in blue nevus | NCIT:C4240 | MONDO:equivalentTo | Melanoma Arising in Blue Nevus | A rare melanoma which develops in a pre-existing blue nevus. It occurs more frequently on the scalp, face, orbit, back, buttocks, extremities, hands, and feet. | MONDO:0005012 | +| MONDO:0857137 | cellular blue nevus | NCIT:C4241 | MONDO:equivalentTo | Cellular Blue Nevus | A blue nevus characterized by a multinodular cellular infiltrate with a dumb-bell architecture occupying the reticular dermis. The cellular infiltrate often extends into the subcutaneous tissue. The cellular infiltrate is composed of spindle-shaped melanocytes with pale cytoplasm alternating with bundles of pigmented spindle-shaped melanocytes. In occasional cases an increased mitotic activity, focal necrosis, and nuclear pleomorphism may be seen. Such cases with atypical features may have an uncertain malignant potential. | MONDO:0006680 | +| MONDO:0857138 | fibrolipoma | NCIT:C4249 | MONDO:equivalentTo | Fibrolipoma | A benign well-circumscribed tumor composed of mature adipocytes, characterized by areas of abundant fibrous tissue. | MONDO:0005106 | +| MONDO:0857139 | fibromyxolipoma | NCIT:C4251 | MONDO:equivalentTo | Fibromyxolipoma | A benign well-circumscribed tumor composed of mature adipocytes, characterized by areas of abundant fibrous tissue and extensive myxoid change. | MONDO:0005106 | +| MONDO:0857140 | lipoblastomatosis | NCIT:C4255 | MONDO:equivalentTo | Lipoblastomatosis | A neoplastic process characterized by the presence of multiple lipoblastomas. | MONDO:0044983 | +| MONDO:0857141 | sporadic retinoblastoma | NCIT:C42596 | MONDO:equivalentTo | Sporadic Retinoblastoma | A retinoblastoma that occurs in a patient without a family history of the disease. | MONDO:0008380 | +| MONDO:0857144 | acute myelomonocytic leukemia without abnormal eosinophils | NCIT:C42779 | MONDO:equivalentTo | Acute Myelomonocytic Leukemia without Abnormal Eosinophils | Acute myelomonocytic leukemia without an abnormal eosinophilic component in the bone marrow. | MONDO:0018871 | +| MONDO:0857145 | pericardial solitary fibrous tumor | NCIT:C4281 | MONDO:equivalentTo | Pericardial Solitary Fibrous Tumor | A localized neoplasm of probable fibroblastic derivation, that arises from the pericardium. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. | MONDO:0021381|MONDO:0016238 | +| MONDO:0857146 | benign hemangiopericytoma | NCIT:C4300 | MONDO:equivalentTo | Benign Hemangiopericytoma | A hemangiopericytoma without malignant morphologic or clinical characteristics. | MONDO:0005094 | +| MONDO:0857147 | benign odontogenic neoplasm | NCIT:C4306 | MONDO:equivalentTo | Benign Odontogenic Neoplasm | A benign, slow growing neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Representative examples include adenomatoid odontogenic tumor, calcifying cystic odontogenic tumor, and squamous odontogenic tumor. | MONDO:0021445|MONDO:0021192 | +| MONDO:0857152 | pure cutaneous mastocytosis | NCIT:C43277 | MONDO:equivalentTo | Pure Cutaneous Mastocytosis | Mastocytosis that manifests with pure cutaneous involvement. | MONDO:0019023 | +| MONDO:0857155 | germinative follicular epithelium neoplasm | NCIT:C43311 | MONDO:equivalentTo | Germinative Follicular Epithelium Neoplasm | A neoplasm involving the germinative follicular epithelium. | MONDO:0003413|MONDO:0021634 | +| MONDO:0857156 | adamantinoid trichoblastoma | NCIT:C43312 | MONDO:equivalentTo | Adamantinoid Trichoblastoma | A trichoblastoma characterized by the presence of neoplastic epithelial cell forming nodules. There are palisaded basaloid cells present at the periphery and pale larger cells with vesicular nuclei, prominent nucleoli, and abundant cytoplasm present at the center of the nodules. The epithelial cells are admixed with numerous small lymphocytes and occasional large multinucleated cells that resemble Reed-Sternberg cells. | MONDO:0020593 | +| MONDO:0857160 | outer hair sheath and infundibulum neoplasm | NCIT:C43324 | MONDO:equivalentTo | Outer Hair Sheath and Infundibulum Neoplasm | A neoplasm involving the outer hair sheath and infundibulum. | MONDO:0003413 | +| MONDO:0857163 | superficial epithelioma with sebaceous differentiation | NCIT:C43334 | MONDO:equivalentTo | Superficial Epithelioma with Sebaceous Differentiation | A benign epithelial neoplasm occurring in the head, neck or back region. It is characterized by proliferation of basaloid cells in the upper dermis with broad attachments to the epidermis. | MONDO:0021490 | +| MONDO:0857164 | sebaceoma | NCIT:C43336 | MONDO:equivalentTo | Sebaceoma | A benign neoplasm characterized by sebaceous cell differentiation. It arises from the dermis and typically affects the face and neck. | MONDO:0021490 | +| MONDO:0857165 | extraocular cutaneous sebaceous carcinoma | NCIT:C43341 | MONDO:equivalentTo | Extraocular Cutaneous Sebaceous Carcinoma | A rare variant of sebaceous carcinoma that does not affect the ocular region. | MONDO:0006962 | +| MONDO:0857166 | apocrine hidrocystoma | NCIT:C43342 | MONDO:equivalentTo | Apocrine Hidrocystoma | A slow-growing, usually solitary, dome-shaped benign sweat gland adenoma, most frequently located on the eyelid. It is characterized by a cystic proliferation of apocrine glands. Surgical excision is curative. | MONDO:0002804|MONDO:0006787 | +| MONDO:0857167 | cylindrocarcinoma | NCIT:C43344 | MONDO:equivalentTo | Cylindrocarcinoma | A carcinoma that arises in a cylindroma. | MONDO:0005524|MONDO:0024878 | +| MONDO:0857168 | ductal eccrine carcinoma with spindle cell elements | NCIT:C43346 | MONDO:equivalentTo | Ductal Eccrine Carcinoma with Spindle Cell Elements | A variant of ductal eccrine carcinoma with spindled cell appearance. | MONDO:0024245 | +| MONDO:0857169 | squamoid eccrine ductal carcinoma | NCIT:C43347 | MONDO:equivalentTo | Squamoid Eccrine Ductal Carcinoma | A variant of ductal eccrine carcinoma with squamoid metaplasia. | MONDO:0024245 | +| MONDO:0857170 | ductal eccrine carcinoma with abundant fibromyxoid stroma | NCIT:C43349 | MONDO:equivalentTo | Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma | A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma. | MONDO:0024245 | +| MONDO:0857171 | sporadic cylindroma | NCIT:C43351 | MONDO:equivalentTo | Sporadic Cylindroma | A cylindroma occurring as a solitary sporadic lesion. | MONDO:0021812 | +| MONDO:0857172 | classic poroma | NCIT:C43353 | MONDO:equivalentTo | Classic Poroma | A poroma characterized by the presence of cords and aggregates of neoplastic cells in the superficial dermis in connection with the epidermis. | MONDO:0006738 | +| MONDO:0857173 | porocarcinoma in situ | NCIT:C43354 | MONDO:equivalentTo | Porocarcinoma In Situ | A rare intraepidermal neoplasia that arises from the acrosyringial portion of the eccrine duct. | MONDO:0006189 | +| MONDO:0857174 | aleukemic lymphoid leukemia | NCIT:C4343 | MONDO:equivalentTo | Aleukemic Lymphoid Leukemia | | MONDO:0003730|MONDO:0005402 | +| MONDO:0857175 | sporadic gastric adenocarcinoma | NCIT:C43527 | MONDO:equivalentTo | Sporadic Gastric Adenocarcinoma | A primary adenocarcinoma of the stomach in a patient with no family history of gastric cancer or inherited high risk mutations. | MONDO:0005036 | +| MONDO:0857177 | small intestinal adenosquamous carcinoma | NCIT:C43535 | MONDO:equivalentTo | Small Intestinal Adenosquamous Carcinoma | A carcinoma that arises from the small intestine. It is composed of malignant glandular cells and malignant squamous cells. | MONDO:0005522|MONDO:0006074 | +| MONDO:0857178 | small intestinal mucinous adenocarcinoma | NCIT:C43536 | MONDO:equivalentTo | Small Intestinal Mucinous Adenocarcinoma | An invasive adenocarcinoma that arises from the small intestine. It is composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. | MONDO:0003198|MONDO:0004957 | +| MONDO:0857179 | small intestinal medullary carcinoma | NCIT:C43537 | MONDO:equivalentTo | Small Intestinal Medullary Carcinoma | A carcinoma that arises from the small intestine. It is characterized by the presence of malignant epithelial cells with vesicular nucleus, distinct nucleolus, and abundant pink cytoplasm. | MONDO:0005522 | +| MONDO:0857180 | small intestinal undifferentiated carcinoma | NCIT:C43538 | MONDO:equivalentTo | Small Intestinal Undifferentiated Carcinoma | A carcinoma that arises from the small intestine. It is composed of malignant epithelial cells which do not display evidence of glandular, squamous, or transitional cell differentiation. | MONDO:0005522|MONDO:0005617 | +| MONDO:0857181 | pituitary neuroendocrine tumor/microadenoma | NCIT:C43541 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor/Microadenoma | A pituitary neuroendocrine tumor with a diameter equal or less than 10 mm. | MONDO:0006373 | +| MONDO:0857182 | pituitary neuroendocrine tumor/macroadenoma | NCIT:C43542 | MONDO:equivalentTo | Pituitary Neuroendocrine Tumor/Macroadenoma | A pituitary neuroendocrine tumor with a diameter greater than 10 mm. Clinical manifestations include headache, visual field disturbances, pituitary insufficiency, and mild hyperprolactinemia. | MONDO:0006373 | +| MONDO:0857183 | small intestinal signet ring cell carcinoma | NCIT:C43543 | MONDO:equivalentTo | Small Intestinal Signet Ring Cell Carcinoma | An invasive adenocarcinoma that arises from the small intestine. It is characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. | MONDO:0003198|MONDO:0005092 | +| MONDO:0857184 | appendix tubular adenoma | NCIT:C43546 | MONDO:equivalentTo | Appendix Tubular Adenoma | An adenoma arising from the appendix. It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia. | MONDO:0006088|MONDO:0024660 | +| MONDO:0857185 | appendix tubulovillous adenoma | NCIT:C43547 | MONDO:equivalentTo | Appendix Tubulovillous Adenoma | An adenoma arising from the appendix. It is characterized by the presence of tubular and villous epithelial structures and it is associated with dysplasia. | MONDO:0006088|MONDO:0024661 | +| MONDO:0857187 | eyelid squamous papilloma | NCIT:C4355 | MONDO:equivalentTo | Eyelid Squamous Papilloma | A papilloma that arises from the eyelid. It is composed of squamous cells and is characterized by the presence of an acanthotic epithelium with hyperkeratosis and papillary projections with an inner fibrovascular core. It is the most common benign epithelial tumor of eyelid. It usually affects middle-aged or older adults. | MONDO:0001825|MONDO:0021275 | +| MONDO:0857188 | small intestinal villous adenoma | NCIT:C43551 | MONDO:equivalentTo | Small Intestinal Villous Adenoma | A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. | MONDO:0000502|MONDO:0021303 | +| MONDO:0857189 | appendix signet ring cell carcinoma | NCIT:C43554 | MONDO:equivalentTo | Appendix Signet Ring Cell Carcinoma | An adenocarcinoma arising from the appendix, characterized by the presence of signet-ring, mucin-producing malignant cells. The signet-ring cells constitute more than fifty-percent of the malignant cells. | MONDO:0006087|MONDO:0005092 | +| MONDO:0857190 | appendix undifferentiated carcinoma | NCIT:C43556 | MONDO:equivalentTo | Appendix Undifferentiated Carcinoma | A high grade carcinoma arising from the appendix, characterized by the absence of glandular or squamous differentiation. | MONDO:0003196|MONDO:0005617 | +| MONDO:0857191 | appendix mixed adenoneuroendocrine carcinoma | NCIT:C43564 | MONDO:equivalentTo | Appendix Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the appendix. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0006182|MONDO:0003196 | +| MONDO:0857192 | appendix tubular carcinoid | NCIT:C43565 | MONDO:equivalentTo | Appendix Tubular Carcinoid | A neuroendocrine tumor that arises from the appendix. It does not show the morphologic characteristics of typical carcinoid tumors (neoplastic cells forming solid nests). In contrast, the tumor cells form small discrete tubules. | MONDO:0015066 | +| MONDO:0857194 | rectosigmoid adenocarcinoma | NCIT:C43584 | MONDO:equivalentTo | Rectosigmoid Adenocarcinoma | An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. | MONDO:0005008|MONDO:0002424 | +| MONDO:0857195 | colorectal mucinous adenocarcinoma | NCIT:C43585 | MONDO:equivalentTo | Colorectal Mucinous Adenocarcinoma | An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion. | MONDO:0005008|MONDO:0004957 | +| MONDO:0857196 | colorectal undifferentiated carcinoma | NCIT:C43591 | MONDO:equivalentTo | Colorectal Undifferentiated Carcinoma | An invasive malignant epithelial tumor that arises from the colon or rectum. There is no morphologic, immunophenotypic, or molecular biological evidence of glandular or squamous differentiation. | MONDO:0005617|MONDO:0024331 | +| MONDO:0857198 | gallbladder adenocarcinoma, intestinal-type | NCIT:C43604 | MONDO:equivalentTo | Gallbladder Adenocarcinoma, Intestinal-Type | An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells. | MONDO:0006215|MONDO:0006254 | +| MONDO:0857199 | gallbladder clear cell adenocarcinoma | NCIT:C43605 | MONDO:equivalentTo | Gallbladder Clear Cell Adenocarcinoma | A rare morphologic variant of gallbladder adenocarcinoma composed of malignant glandular epithelium with a predominance of glycogen rich clear cells. The cells display hyperchromic nuclei and well-defined cytoplasmic borders. | MONDO:0006215|MONDO:0005004 | +| MONDO:0857200 | gallbladder flat biliary intraepithelial neoplasia | NCIT:C43607 | MONDO:equivalentTo | Gallbladder Flat Biliary Intraepithelial Neoplasia | Biliary intraepithelial neoplasia that affects the gallbladder epithelium. It is characterized by the absence of intraluminal micropapillary projections. | MONDO:0006218 | +| MONDO:0857201 | gallbladder papillary biliary intraepithelial neoplasia | NCIT:C43609 | MONDO:equivalentTo | Gallbladder Papillary Biliary Intraepithelial Neoplasia | Biliary intraepithelial neoplasia that affects the gallbladder epithelium. It is characterized by the presence of intraluminal micropapillary projections. | MONDO:0006218 | +| MONDO:0857202 | pleomorphic hepatocellular carcinoma | NCIT:C43625 | MONDO:equivalentTo | Pleomorphic Hepatocellular Carcinoma | A morphologic variant of hepatocellular carcinoma, characterized by the presence of malignant cells which show marked variation in their size and shape. Bizarre mononuclear or multinucleated giant cells are often present. | MONDO:0007256 | +| MONDO:0857203 | sarcomatoid hepatocellular carcinoma | NCIT:C43627 | MONDO:equivalentTo | Sarcomatoid Hepatocellular Carcinoma | A morphologic variant of hepatocellular carcinoma characterized by the presence of malignant spindle cells or atypical giant cells. | MONDO:0007256 | +| MONDO:0857206 | accessory urethral gland neoplasm | NCIT:C4378 | MONDO:equivalentTo | Accessory Urethral Gland Neoplasm | A benign or malignant, primary or metastatic neoplasm affecting the accessory urethral gland. | MONDO:0021239 | +| MONDO:0857208 | clear cell intrahepatic cholangiocarcinoma | NCIT:C43848 | MONDO:equivalentTo | Clear Cell Intrahepatic Cholangiocarcinoma | A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise. | MONDO:0005004|MONDO:0003210 | +| MONDO:0857210 | anogenital papillomaviral intraepithelial neoplasia | NCIT:C4394 | MONDO:equivalentTo | Anogenital Papillomaviral Intraepithelial Neoplasia | | MONDO:0024475 | +| MONDO:0857211 | posterior tongue neoplasm | NCIT:C4400 | MONDO:equivalentTo | Posterior Tongue Neoplasm | A benign or malignant neoplasm that affects the base of the tongue. | MONDO:0021240 | +| MONDO:0857212 | pyriform fossa neoplasm | NCIT:C4424 | MONDO:equivalentTo | Pyriform Fossa Neoplasm | A benign or malignant neoplasm that affects the pyriform sinus. | MONDO:0021358 | +| MONDO:0857213 | gastric pylorus carcinoma in situ ajcc v6 and v7 | NCIT:C4431 | MONDO:equivalentTo | Gastric Pylorus Carcinoma In Situ AJCC v6 and v7 | Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0003971|MONDO:0004716 | +| MONDO:0857215 | lung epithelioid hemangioendothelioma | NCIT:C4453 | MONDO:equivalentTo | Lung Epithelioid Hemangioendothelioma | A low-grade malignant blood vessel neoplasm arising from the lung. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. | MONDO:0008903|MONDO:0015523 | +| MONDO:0857216 | dermal duct tumor | NCIT:C4473 | MONDO:equivalentTo | Dermal Duct Tumor | A poroma characterized by the presence of small nodules of neoplastic cells in the superficial dermis without connection to the epidermis. | MONDO:0006738 | +| MONDO:0857217 | cutaneous neural neoplasm | NCIT:C4479 | MONDO:equivalentTo | Cutaneous Neural Neoplasm | A peripheral nervous system neoplasm that arises from the dermis. | MONDO:0001406|MONDO:0002300 | +| MONDO:0857219 | malignant skin hemangiopericytoma | NCIT:C4493 | MONDO:equivalentTo | Malignant Skin Hemangiopericytoma | A malignant hemangiopericytoma arising in the skin. | MONDO:0021424|MONDO:0009330 | +| MONDO:0857220 | cockade nevus | NCIT:C4495 | MONDO:equivalentTo | Cockade Nevus | A rare speckled nevus with concentric pattern of pigmentation and central papule surrounded by clear zone. | MONDO:0044794 | +| MONDO:0857222 | common blue nevus | NCIT:C4496 | MONDO:equivalentTo | Common Blue Nevus | A blue nevus that is not associated with increased cellularity. | MONDO:0006680 | +| MONDO:0857223 | nevus spilus | NCIT:C4498 | MONDO:equivalentTo | Nevus Spilus | A melanocytic nevus that contains a variable number of darkly pigmented macules and papules. | MONDO:0044792 | +| MONDO:0857224 | benign ovarian epithelial tumor | NCIT:C4510 | MONDO:equivalentTo | Benign Ovarian Epithelial Tumor | A neoplasm that arises from the surface epithelium of the ovary and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor. | MONDO:0002229|MONDO:0000646|MONDO:0036976 | +| MONDO:0857229 | classical low grade fibromyxoid sarcoma | NCIT:C45210 | MONDO:equivalentTo | Classical Low Grade Fibromyxoid Sarcoma | A low grade fibromyxoid sarcoma that may have poorly formed collagen rosettes, but lacks prominent, well formed collagen rosettes. | MONDO:0006272 | +| MONDO:0857233 | cutaneous hematopoietic and lymphoid cell neoplasm | NCIT:C45240 | MONDO:equivalentTo | Cutaneous Hematopoietic and Lymphoid Cell Neoplasm | A neoplasm of hematopoietic and lymphoid cell origin that affects the skin. | MONDO:0002531|MONDO:0044881 | +| MONDO:0857240 | lacrimal gland pleomorphic adenoma | NCIT:C4542 | MONDO:equivalentTo | Lacrimal Gland Pleomorphic Adenoma | A benign, usually encapsulated neoplasm of the lacrimal gland composed of epithelial and mesenchymal cells. Pleomorphic adenomas are neoplasms that develop in the salivary glands or heterotopic salivary gland tissues. It has been suggested that myoepithelial cells play a major role in the histogenesis of these tumors. In the lacrimal gland, pleomorphic adenomas presumably develop from metaplastic myoepithelial cells. | MONDO:0008401|MONDO:0021488 | +| MONDO:0857244 | orbit capillary hemangioma | NCIT:C4545 | MONDO:equivalentTo | Orbit Capillary Hemangioma | A capillary hemangioma arising from the orbit. | MONDO:0001974|MONDO:0002407 | +| MONDO:0857245 | orbit hemangiopericytoma | NCIT:C4547 | MONDO:equivalentTo | Orbit Hemangiopericytoma | A benign or malignant hemangiopericytoma arising from the orbit. | MONDO:0005094 | +| MONDO:0857247 | lymphangioma circumscriptum | NCIT:C45485 | MONDO:equivalentTo | Lymphangioma Circumscriptum | A localized lymphangioma characterized by microcystic changes. | MONDO:0002013 | +| MONDO:0857248 | lung squamous cell carcinoma, papillary variant | NCIT:C45502 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma, Papillary Variant | A morphologic variant of squamous cell lung carcinoma characterized by the presence of papillary structures. | MONDO:0005056|MONDO:0002979|MONDO:0056806 | +| MONDO:0857249 | lung squamous cell carcinoma, clear cell variant | NCIT:C45503 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma, Clear Cell Variant | A morphologic variant of squamous cell lung carcinoma characterized by the presence of clear cells. | MONDO:0005056|MONDO:0056806 | +| MONDO:0857250 | lung squamous cell carcinoma, small cell variant | NCIT:C45504 | MONDO:equivalentTo | Lung Squamous Cell Carcinoma, Small Cell Variant | A poorly differentiated morphologic variant of squamous cell lung carcinoma characterized by the presence of small tumor cells with focal squamous differentiation. | MONDO:0005056|MONDO:0005097 | +| MONDO:0857251 | lung basaloid squamous cell carcinoma | NCIT:C45507 | MONDO:equivalentTo | Lung Basaloid Squamous Cell Carcinoma | A morphologic variant of squamous cell lung carcinoma characterized by nuclear palisading. | MONDO:0003486|MONDO:0005097|MONDO:0005056 | +| MONDO:0857252 | lung spindle cell carcinoma | NCIT:C45541 | MONDO:equivalentTo | Lung Spindle Cell Carcinoma | A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant spindle cells and focal lymphoplasmacytic infiltrates. Adenocarcinoma cells, malignant squamous cells, and giant cells are not present. | MONDO:0006279 | +| MONDO:0857253 | lung pleomorphic carcinoma | NCIT:C45542 | MONDO:equivalentTo | Lung Pleomorphic Carcinoma | A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells. | MONDO:0006279|MONDO:0003573 | +| MONDO:0857254 | lung carcinosarcoma | NCIT:C45543 | MONDO:equivalentTo | Lung Carcinosarcoma | A morphologic variant of lung sarcomatoid carcinoma composed of a mixture of non-small cell lung carcinoma and a sarcomatous component. | MONDO:0006279|MONDO:0002928 | +| MONDO:0857256 | lung neuroendocrine tumor g2 | NCIT:C45551 | MONDO:equivalentTo | Lung Neuroendocrine Tumor G2 | A neuroendocrine tumor of the lung showing focal necrotic changes or a number of mitotic figures between 2 and 10/10 high power fields. | MONDO:0006041|MONDO:0006095 | +| MONDO:0857259 | ciliary body malignant medulloepithelioma | NCIT:C4557 | MONDO:equivalentTo | Ciliary Body Malignant Medulloepithelioma | A rare, unilateral, malignant embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium. | MONDO:0002969|MONDO:0017050 | +| MONDO:0857260 | lung squamous papilloma | NCIT:C45573 | MONDO:equivalentTo | Lung Squamous Papilloma | A papillary neoplasm that arises endobronchially. It is characterized by the presence of a delicate fibrovascular core lined by stratified squamous epithelium. Squamous cell papillomas can be solitary or multiple. Patients usually present with signs and symptoms of bronchial obstruction. Because of the possibility of recurrence and reported cases of squamous cell carcinomas arising at the excision site of squamous cell papillomas, complete excision is indicated. | MONDO:0006278|MONDO:0001825 | +| MONDO:0857262 | bronchial glandular papilloma | NCIT:C45601 | MONDO:equivalentTo | Bronchial Glandular Papilloma | A benign papillary neoplasm that arises endobronchially. It is characterized by the presence of fibrovascular cores lined by columnar, cuboidal, and goblet cells. Patients usually present with signs and symptoms of bronchial obstruction. Complete resection is curative. | MONDO:0006278|MONDO:0021078 | +| MONDO:0857263 | bronchial mixed squamous cell and glandular papilloma | NCIT:C45602 | MONDO:equivalentTo | Bronchial Mixed Squamous Cell and Glandular Papilloma | An exceedingly rare benign endobronchial neoplasm characterized by the presence of fibrovascular cores which are lined by both squamous and glandular epithelium. Patients present with obstructive symptoms. Complete resection is curative. | MONDO:0021043|MONDO:0006278 | +| MONDO:0857264 | lung pleomorphic adenoma | NCIT:C45603 | MONDO:equivalentTo | Lung Pleomorphic Adenoma | A very rare, well circumscribed, benign epithelial neoplasm that arises from the bronchus. It is characterized by the presence of epithelial cells, myoepithelial cells, and fibromyxoid stroma. | MONDO:0008401|MONDO:0003422 | +| MONDO:0857265 | lung mucinous cystadenoma | NCIT:C45604 | MONDO:equivalentTo | Lung Mucinous Cystadenoma | A very rare, well circumscribed, benign cystic neoplasm that arises from the lung. It is characterized by the presence of cysts which are lined by tall mucinous epithelium and filled with mucin. | MONDO:0003422|MONDO:0006859 | +| MONDO:0857267 | lung soft tissue neoplasm | NCIT:C45612 | MONDO:equivalentTo | Lung Soft Tissue Neoplasm | A benign, intermediate, or malignant mesenchymal neoplasm that arises from the lung. | MONDO:0006424|MONDO:0021117 | +| MONDO:0857268 | malignant lung and pleural neoplasm | NCIT:C45625 | MONDO:equivalentTo | Malignant Lung and Pleural Neoplasm | A primary or metastatic malignant neoplasm that affects the lung and pleura. | MONDO:0003274 | +| MONDO:0857270 | lung synovial sarcoma | NCIT:C45631 | MONDO:equivalentTo | Lung Synovial Sarcoma | A synovial sarcoma arising from the lungs. | MONDO:0002426|MONDO:0010434 | +| MONDO:0857273 | intrapulmonary thymoma | NCIT:C45638 | MONDO:equivalentTo | Intrapulmonary Thymoma | An epithelial neoplasm that arises from ectopic thymic tissue in the lung. Histologically it is identical to the thymomas that arise from the mediastinum. Signs and symptoms include cough, dyspnea, fever, and weight loss. Surgical excision is the recommended treatment. | MONDO:0006456|MONDO:0021117 | +| MONDO:0857274 | mediastinal thymoma | NCIT:C45639 | MONDO:equivalentTo | Mediastinal Thymoma | An invasive or non-invasive thymoma that arises from the mediastinum. Thymomas are the most common anterior mediastinal tumors. | MONDO:0006456|MONDO:0021386 | +| MONDO:0857275 | lung melanoma | NCIT:C45652 | MONDO:equivalentTo | Lung Melanoma | A rare malignant neoplasm that derives from melanocytes and arises from the lung in a patient with no history of previous melanoma and no evidence of melanoma in another site at the time of diagnosis. It usually presents as a solitary lesion and the prognosis is poor. | MONDO:0006320|MONDO:0008903 | +| MONDO:0857276 | pleural well differentiated papillary mesothelial tumor | NCIT:C45660 | MONDO:equivalentTo | Pleural Well Differentiated Papillary Mesothelial Tumor | A rare, non-invasive, localized or multifocal mesothelial neoplasm that arises from the pleura. It is characterized by the presence of papillae with myxoid fibrovascular cores, lined by a single layer of mesothelial cells. The clinical course is usually indolent. | MONDO:0003308|MONDO:0003688 | +| MONDO:0857278 | pleural lymphoma | NCIT:C45687 | MONDO:equivalentTo | Pleural Lymphoma | A rare extranodal lymphoma that arises from the pleura with no evidence of involvement of other sites at the time of diagnosis. This category includes primary effusion lymphoma and pyothorax-associated lymphoma. | MONDO:0017207|MONDO:0006294 | +| MONDO:0857279 | pleural epithelioid hemangioendothelioma | NCIT:C45695 | MONDO:equivalentTo | Pleural Epithelioid Hemangioendothelioma | A low-grade malignant blood vessel neoplasm arising from the pleura. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. | MONDO:0015523|MONDO:0006294 | +| MONDO:0857280 | pleural synovial sarcoma | NCIT:C45696 | MONDO:equivalentTo | Pleural Synovial Sarcoma | A synovial sarcoma arising in the pleural cavity. | MONDO:0006294|MONDO:0010434 | +| MONDO:0857282 | micronodular thymoma with lymphoid stroma | NCIT:C45706 | MONDO:equivalentTo | Micronodular Thymoma with Lymphoid Stroma | A rare type of thymoma characterized by the presence of multiple, well formed epithelial nodules separated by a lymphocytic stroma that usually contains germinal centers. Reported cases have not been associated with recurrences or metastases. | MONDO:0006456 | +| MONDO:0857283 | metaplastic thymoma | NCIT:C45707 | MONDO:equivalentTo | Metaplastic Thymoma | A rare type of well circumscribed or encapsulated thymoma with a biphasic architecture, consisting of epithelial cell islands and bundles of spindle cells. The vast majority of reported cases had a benign clinical course. | MONDO:0006456 | +| MONDO:0857284 | microscopic thymoma | NCIT:C45708 | MONDO:equivalentTo | Microscopic Thymoma | A rare type of thymoma, composed of multifocal epithelial proliferations less than 1 mm in diameter. This type of thymoma usually occurs in myasthenia gravis patients without any macroscopic (gross) evidence of tumor. | MONDO:0006456 | +| MONDO:0857285 | sclerosing thymoma | NCIT:C45709 | MONDO:equivalentTo | Sclerosing Thymoma | A rare type of thymoma, characterized by an exuberant amount of collagen-rich stroma. | MONDO:0006456 | +| MONDO:0857286 | malignant respiratory system neoplasm | NCIT:C4571 | MONDO:equivalentTo | Malignant Respiratory System Neoplasm | A primary or metastatic malignant neoplasm that affects the lung parenchyma, bronchial tree, or trachea. Representative examples include lung carcinoma, carcinoid tumor, lung lymphoma, lung sarcoma, and tracheal carcinoma. | MONDO:0020641|MONDO:0004992 | +| MONDO:0857287 | thymus lipofibroadenoma | NCIT:C45710 | MONDO:equivalentTo | Thymus Lipofibroadenoma | A benign thymic tumor morphologically resembling fibroadenoma of the breast. | MONDO:0021512 | +| MONDO:0857289 | combined thymic epithelial neoplasm | NCIT:C45722 | MONDO:equivalentTo | Combined Thymic Epithelial Neoplasm | A primary thymic epithelial neoplasm, characterized by the presence of at least two distinct areas, one representing a thymoma and the other a carcinoma. The most aggressive component usually determines the clinical outcome. | MONDO:0018079|MONDO:0002586 | +| MONDO:0857290 | malignant skin appendage neoplasm | NCIT:C4573 | MONDO:equivalentTo | Malignant Skin Appendage Neoplasm | A malignant neoplasm that arises from the skin appendages. | MONDO:0002898|MONDO:0002297 | +| MONDO:0857291 | mediastinal germ cell tumor with somatic-type malignancy | NCIT:C45732 | MONDO:equivalentTo | Mediastinal Germ Cell Tumor with Somatic-Type Malignancy | A rare extragonadal germ cell tumor that arises from the mediastinum and is associated with the presence of a somatic-type malignant component. The somatic malignancy is usually a sarcoma (e.g., embryonal rhabdomyosarcoma, angiosarcoma, or leiomyosarcoma), adenocarcinoma, squamous cell carcinoma, adenosquamous carcinoma, or primitive neuroectodermal tumor. The prognosis is poor. | MONDO:0006298 | +| MONDO:0857292 | mediastinal t lymphoblastic leukemia/lymphoma | NCIT:C45738 | MONDO:equivalentTo | Mediastinal T Lymphoblastic Leukemia/Lymphoma | A precursor T-cell lymphoid neoplasm composed of small to medium-sized lymphoblasts that affects the mediastinum. | MONDO:0003537|MONDO:0005843 | +| MONDO:0857294 | mediastinal myeloid sarcoma | NCIT:C45741 | MONDO:equivalentTo | Mediastinal Myeloid Sarcoma | A mass-forming malignant neoplasm that arises from the mediastinum and is characterized by the proliferation of myeloblasts or immature myeloid cells. It may present in association with or precede acute myeloid leukemia, or it may be the first manifestation of relapse of acute myeloid leukemia. | MONDO:0005843|MONDO:0006861 | +| MONDO:0857295 | mediastinal paraganglioma | NCIT:C45743 | MONDO:equivalentTo | Mediastinal Paraganglioma | An extra-adrenal parasympathetic paraganglioma that arises from paraganglia in the mediastinum. Clinical signs and symptoms include chest pain, cough, hoarseness, and dysphagia. | MONDO:0003098|MONDO:0021052 | +| MONDO:0857296 | mediastinal solitary fibrous tumor | NCIT:C45744 | MONDO:equivalentTo | Mediastinal Solitary Fibrous Tumor | A localized neoplasm of probable fibroblastic derivation, that arises from the mediastinum. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. | MONDO:0016238|MONDO:0003512 | +| MONDO:0857297 | adult cardiac cellular rhabdomyoma | NCIT:C45747 | MONDO:equivalentTo | Adult Cardiac Cellular Rhabdomyoma | A rare cardiac rhabdomyoma occurring in adults. It is characterized by the presence of neoplastic striated muscle cells with eosinophilic granular cytoplasm and increased cellularity. | MONDO:0006123 | +| MONDO:0857298 | cardiac hemangioma | NCIT:C45749 | MONDO:equivalentTo | Cardiac Hemangioma | A hemangioma arising from the heart. | MONDO:0021450|MONDO:0006500 | +| MONDO:0857300 | cardiac inflammatory myofibroblastic tumor | NCIT:C45753 | MONDO:equivalentTo | Cardiac Inflammatory Myofibroblastic Tumor | An intermediate fibroblastic neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. | MONDO:0015798|MONDO:0021209 | +| MONDO:0857301 | cystic tumor of the atrioventricular node | NCIT:C45754 | MONDO:equivalentTo | Cystic Tumor of the Atrioventricular Node | A multicystic tumor arising in the inferior interatrial septum in the region of the atrioventricular node. The vast majority of patients present with complete heart block and a minority with partial heart block. Sudden death is reported in approximately 10% of the cases. It is a morphologically benign tumor composed of cuboidal, transitional, or squamoid cells. The cells may also show sebaceous differentiation and originate from the endoderm. | MONDO:0021450 | +| MONDO:0857302 | cardiac undifferentiated pleomorphic sarcoma | NCIT:C45755 | MONDO:equivalentTo | Cardiac Undifferentiated Pleomorphic Sarcoma | An undifferentiated pleomorphic sarcoma usually arising from the left atrium of the heart. It is characterized by the presence of fibrohistiocytic cells, giant cells, and spindle cells arrranged iin a storiform pattern. Clinical presentation includes signs and symptoms associated with left atrial hemodynamic changes. | MONDO:0003354|MONDO:0002142 | +| MONDO:0857303 | cardiac synovial sarcoma | NCIT:C45756 | MONDO:equivalentTo | Cardiac Synovial Sarcoma | A synovial sarcoma arising from the heart. | MONDO:0003354|MONDO:0010434 | +| MONDO:0857305 | cardiac rhabdomyosarcoma | NCIT:C45759 | MONDO:equivalentTo | Cardiac Rhabdomyosarcoma | A rare malignant mesenchymal tumor with skeletal muscle differentiation arising within the myocardium. It is characterized by the presence of small round spindle cells. Most cardiac rhabodomyosarcomas are of embryonal type and usually present in children and young adults. | MONDO:0003354|MONDO:0005212 | +| MONDO:0857306 | pericardial germ cell tumor | NCIT:C45761 | MONDO:equivalentTo | Pericardial Germ Cell Tumor | A rare benign or malignant germ cell tumor that arises from the pericardium. The reported cases have been teratomas and yolk sac tumors. | MONDO:0021381|MONDO:0018201 | +| MONDO:0857308 | corneal kaposi sarcoma | NCIT:C4579 | MONDO:equivalentTo | Corneal Kaposi Sarcoma | A Kaposi sarcoma arising from the cornea. | MONDO:0005055|MONDO:0003802 | +| MONDO:0857310 | metastatic malignant neoplasm in the bone marrow | NCIT:C4582 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Bone Marrow | The spread of a malignant neoplasm from its original site of growth to the bone marrow. | MONDO:0024880|MONDO:0021138 | +| MONDO:0857311 | pancreatic neuroendocrine microtumor | NCIT:C45834 | MONDO:equivalentTo | Pancreatic Neuroendocrine Microtumor | A non-functioning pancreatic neuroendocrine tumor measuring less than 0.5 cm in diameter. | MONDO:0004334 | +| MONDO:0857315 | sellar gangliocytoma | NCIT:C45917 | MONDO:equivalentTo | Sellar Gangliocytoma | A tumor that arises in the sellar region and is characterized by the presence of mature ganglion cells and neuronal differentiation. It is often associated with the presence of pituitary neuroendocrine tumors/adenomas. | MONDO:0016730|MONDO:0002720 | +| MONDO:0857316 | hypothalamic gangliocytoma | NCIT:C45918 | MONDO:equivalentTo | Hypothalamic Gangliocytoma | A tumor characterized by the presence of mature ganglion cells and neuronal differentiation, arising in the hypothalamus. It is often associated with the presence of pituitary gland adenomas. Symptoms include acromegaly and precocious puberty. | MONDO:0016730|MONDO:0006799 | +| MONDO:0857317 | anterior pituitary gland neoplasm | NCIT:C45921 | MONDO:equivalentTo | Anterior Pituitary Gland Neoplasm | A neoplasm arising from the anterior lobe of the pituitary gland. The vast majority are pituitary neuroendocrine tumors (formerly pituitary adenomas). | MONDO:0017611 | +| MONDO:0857319 | densely granulated somatotroph pituitary neuroendocrine tumor | NCIT:C45925 | MONDO:equivalentTo | Densely Granulated Somatotroph Pituitary Neuroendocrine Tumor | A growth hormone-producing pituitary neuroendocrine tumor composed of medium-sized acidophilic cells with granular cytoplasm and abundant secretory granules. | MONDO:0006238 | +| MONDO:0857320 | sparsely granulated somatotroph pituitary neuroendocrine tumor | NCIT:C45926 | MONDO:equivalentTo | Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor | A growth hormone-producing pituitary neuroendocrine tumor composed of small, round cells containing fibrous bodies and scarce, small secretory granules. | MONDO:0006238 | +| MONDO:0857321 | densely granulated lactotroph pituitary neuroendocrine tumor | NCIT:C45931 | MONDO:equivalentTo | Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor | A rare prolactin-producing pituitary neuroendocrine tumor composed of acidophilic cells with many large secretory granules. The endoplasmic reticulum is not as abundant as in the sparsely granulated subtype. | MONDO:0010911 | +| MONDO:0857322 | sparsely granulated lactotroph pituitary neuroendocrine tumor | NCIT:C45932 | MONDO:equivalentTo | Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor | A prolactin-producing pituitary neuroendocrine tumor composed of relatively large, chromophobic or slightly acidophilic cells with well developed, abundant endoplasmic reticulum, and many immature secretory granules. Mature secretory granules are sparse. | MONDO:0010911 | +| MONDO:0857324 | benign palate neoplasm | NCIT:C4599 | MONDO:equivalentTo | Benign Palate Neoplasm | A non-metastasizing neoplasm that arises from the hard palate, soft palate, or uvula. | MONDO:0005286 | +| MONDO:0857325 | thyroid gland oncocytic neoplasm | NCIT:C46068 | MONDO:equivalentTo | Thyroid Gland Oncocytic Neoplasm | An adenoma or carcinoma arising from the follicular cells of the thyroid gland. It is composed of large oncocytic cells with abundant granular eosinophilic cytoplasm. | MONDO:0015074|MONDO:0010795 | +| MONDO:0857326 | unilateral breast carcinoma | NCIT:C46073 | MONDO:equivalentTo | Unilateral Breast Carcinoma | Breast carcinoma of one breast, or one side of the breast. | MONDO:0004989 | +| MONDO:0857327 | nonestrogen-dependent malignant neoplasm | NCIT:C46080 | MONDO:equivalentTo | Nonestrogen-Dependent Malignant Neoplasm | Cancer that is not dependent upon the presence of estrogen for metastasis or growth. 2005 | MONDO:0004992 | +| MONDO:0857330 | macrofollicular variant thyroid gland papillary carcinoma | NCIT:C46092 | MONDO:equivalentTo | Macrofollicular Variant Thyroid Gland Papillary Carcinoma | A morphologic variant of papillary carcinoma of the thyroid gland characterized by the predominance or the exclusive presence of macrofollicles. Some of the malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland. | MONDO:0005075 | +| MONDO:0857331 | clear cell variant thyroid gland papillary carcinoma | NCIT:C46094 | MONDO:equivalentTo | Clear Cell Variant Thyroid Gland Papillary Carcinoma | A morphologic variant of papillary carcinoma of the thyroid gland characterized by the predominance of malignant follicular clear cells. These cells have the nuclear features that characterize the papillary carcinomas of the thyroid gland. | MONDO:0005075|MONDO:0005004 | +| MONDO:0857333 | thyroid gland follicular carcinoma, clear cell variant | NCIT:C46096 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Clear Cell Variant | A morphologic variant of follicular carcinoma of the thyroid gland characterized by the predominance of malignant follicular clear cells. These cells lack the nuclear features that characterize the papillary carcinomas of the thyroid gland. | MONDO:0005034|MONDO:0005004 | +| MONDO:0857334 | sporadic thyroid gland medullary carcinoma | NCIT:C46098 | MONDO:equivalentTo | Sporadic Thyroid Gland Medullary Carcinoma | A non-hereditary medullary carcinoma of the thyroid gland not associated with multiple endocrine neoplasia. The majority of thyroid gland medullary carcinomas are sporadic. | MONDO:0015277 | +| MONDO:0857336 | thyroid gland mixed medullary and follicular cell-derived carcinoma | NCIT:C46104 | MONDO:equivalentTo | Thyroid Gland Mixed Medullary and Follicular Cell-Derived Carcinoma | A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. | MONDO:0015075|MONDO:0021069 | +| MONDO:0857337 | intrathyroid thymic carcinoma | NCIT:C46106 | MONDO:equivalentTo | Intrathyroid Thymic Carcinoma | A rare primary carcinoma of the thyroid gland, composed of groups of carcinoma cells with thymic epithelial differentiation. | MONDO:0015075 | +| MONDO:0857338 | thyroid gland follicular adenoma with papillary hyperplasia | NCIT:C46111 | MONDO:equivalentTo | Thyroid Gland Follicular Adenoma with Papillary Hyperplasia | A thyroid gland adenoma characterized by the presence of papillae lined by cells that range from cuboidal to columnar. The papillae are usually cystic and non-branching. Aggregates of follicles may be found within the papillary structures. | MONDO:0002533|MONDO:0005032 | +| MONDO:0857339 | thyroid gland signet ring cell follicular adenoma | NCIT:C46115 | MONDO:equivalentTo | Thyroid Gland Signet Ring Cell Follicular Adenoma | A thyroid gland adenoma characterized by the presence of signet ring cells that stain positive for thyroglobulin. | MONDO:0005032 | +| MONDO:0857340 | thyroid gland mucinous follicular adenoma | NCIT:C46116 | MONDO:equivalentTo | Thyroid Gland Mucinous Follicular Adenoma | A thyroid gland adenoma composed of follicles and characterized by the presence of abundant extracellular mucin. | MONDO:0005032 | +| MONDO:0857341 | thyroid gland lipoadenoma | NCIT:C46118 | MONDO:equivalentTo | Thyroid Gland Lipoadenoma | A thyroid gland adenoma composed of follicular structures and mature adipocytes. | MONDO:0003431|MONDO:0005032 | +| MONDO:0857342 | thyroid gland clear cell follicular adenoma | NCIT:C46119 | MONDO:equivalentTo | Thyroid Gland Clear Cell Follicular Adenoma | A thyroid gland adenoma composed of follicular cells with cytoplasmic clearing. | MONDO:0003426|MONDO:0005032 | +| MONDO:0857343 | thyroid gland hyperfunctioning adenoma | NCIT:C46122 | MONDO:equivalentTo | Thyroid Gland Hyperfunctioning Adenoma | A thyroid gland adenoma producing thyroxin. It is associated with hyperthyroidism. Radioactive iodine scan reveals a hot nodule. | MONDO:0005032 | +| MONDO:0857345 | thyroid gland paraganglioma | NCIT:C46125 | MONDO:equivalentTo | Thyroid Gland Paraganglioma | A rare, circumscribed or encapsulated neuroendocrine tumor arising from the thyroid gland. Microscopically, it is characterized by the presence of tumor cells arranged in a nesting (Zellballen) growth pattern. The reported cases have followed a benign clinical course. | MONDO:0006239|MONDO:0015074 | +| MONDO:0857346 | benign skin appendage neoplasm | NCIT:C4615 | MONDO:equivalentTo | Benign Skin Appendage Neoplasm | A neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma. | MONDO:0021440|MONDO:0002297 | +| MONDO:0857349 | pineal region germ cell tumor | NCIT:C4659 | MONDO:equivalentTo | Pineal Region Germ Cell Tumor | A germ cell tumor that arises in the pineal region. Representative examples include teratoma, germinoma, and choriocarcinoma. | MONDO:0021232|MONDO:0003000 | +| MONDO:0857356 | adenocarcinoma with metaplasia | NCIT:C4712 | MONDO:equivalentTo | Adenocarcinoma with Metaplasia | An adenocarcinoma characterized by the presence of metaplasia. | MONDO:0004970 | +| MONDO:0857357 | atypical meningioma | NCIT:C4723 | MONDO:equivalentTo | Atypical Meningioma | A WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis. | MONDO:0045056 | +| MONDO:0857358 | neoplasm by morphology | NCIT:C4741 | MONDO:equivalentTo | Neoplasm by Morphology | A classification system grouping neoplasms according to their cellular characteristics. | MONDO:0005070 | +| MONDO:0857359 | benign squamous cell neoplasm | NCIT:C4742 | MONDO:equivalentTo | Benign Squamous Cell Neoplasm | A non-metastasizing neoplasm composed of squamous cells. The neoplastic cells do not display malignant features. | MONDO:0036976|MONDO:0002532 | +| MONDO:0857360 | skin cavernous hemangioma | NCIT:C4750 | MONDO:equivalentTo | Skin Cavernous Hemangioma | A cavernous hemangioma arising from the skin. | MONDO:0003110|MONDO:0003155 | +| MONDO:0857361 | malignant olfactory nerve neoplasm | NCIT:C4768 | MONDO:equivalentTo | Malignant Olfactory Nerve Neoplasm | A primary or metastatic malignant neoplasm affecting the olfactory nerve. | MONDO:0002722|MONDO:0002433 | +| MONDO:0857362 | benign extrahepatic bile duct neoplasm | NCIT:C4776 | MONDO:equivalentTo | Benign Extrahepatic Bile Duct Neoplasm | A neoplasm that arises from the extrahepatic bile ducts and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021385|MONDO:0000385 | +| MONDO:0857363 | breast carcinoma with chondroid metaplasia | NCIT:C47847 | MONDO:equivalentTo | Breast Carcinoma with Chondroid Metaplasia | An invasive carcinoma of the breast showing differentiation towards cartilaginous structures. | MONDO:0004274 | +| MONDO:0857364 | breast carcinoma with osseous metaplasia | NCIT:C47848 | MONDO:equivalentTo | Breast Carcinoma with Osseous Metaplasia | An invasive breast carcinoma showing differentiation towards bone structures. | MONDO:0004274 | +| MONDO:0857365 | breast paget disease without invasive carcinoma | NCIT:C47858 | MONDO:equivalentTo | Breast Paget Disease without Invasive Carcinoma | Paget disease involving the skin overlying the mammary gland, without accompanying invasive ductal or lobular breast carcinoma. | MONDO:0002648 | +| MONDO:0857366 | breast hyperplasia | NCIT:C4804 | MONDO:equivalentTo | Breast Hyperplasia | A general term that refers to hyperplastic proliferations of the epithelial cells in the breast parenchyma. Examples include atypical ductal hyperplasia, usual ductal hyperplasia, columnar cell hyperplasia, and atypical lobular hyperplasia. | MONDO:0005043|MONDO:0021100 | +| MONDO:0857367 | malignant odontogenic neoplasm | NCIT:C4812 | MONDO:equivalentTo | Malignant Odontogenic Neoplasm | A rare neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Symptoms include swelling, pain, bleeding, mobility of affected teeth, and oral mucosa ulcerations. It may metastasize to lymph nodes and distant anatomic sites early. | MONDO:0021192|MONDO:0005515 | +| MONDO:0857369 | tongue carcinoma | NCIT:C4824 | MONDO:equivalentTo | Tongue Carcinoma | A malignant tumor arising from the epithelium that covers the tongue. The vast majority of tongue carcinomas are moderately or poorly differentiated squamous cell carcinomas. | MONDO:0044925|MONDO:0004631 | +| MONDO:0857370 | parathyroid gland lipoadenoma | NCIT:C48283 | MONDO:equivalentTo | Parathyroid Gland Lipoadenoma | A parathyroid gland adenoma that contains mature adipocytes. | MONDO:0003431|MONDO:0006890 | +| MONDO:0857371 | atypical parathyroid gland tumor | NCIT:C48285 | MONDO:equivalentTo | Atypical Parathyroid Gland Tumor | A parathyroid gland tumor that shares certain morphologic characteristics with parathyroid gland carcinomas (e.g. broad fibrous bands formation with or without hemosiderin deposition, presence of mitotic figures) but lacks unequivocal evidence of capsular or vascular invasion. It is considered a tumor of uncertain malignant potential. (WHO) | MONDO:0021360 | +| MONDO:0857375 | non-metastatic paraganglioma | NCIT:C48314 | MONDO:equivalentTo | Non-Metastatic Paraganglioma | A paraganglioma that is confined to the site of origin. | MONDO:0000448 | +| MONDO:0857376 | nasopharyngeal paraganglioma | NCIT:C48316 | MONDO:equivalentTo | Nasopharyngeal Paraganglioma | An extra-adrenal paraganglioma arising from the nasopharynx and nose. Epistaxis or nasal obstruction are common presenting symptoms. | MONDO:0006239|MONDO:0005375 | +| MONDO:0857377 | primary bone osteosarcoma | NCIT:C4834 | MONDO:equivalentTo | Primary Bone Osteosarcoma | A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It usually involves the long bones and predominantly affects adolescents and young adults. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. | MONDO:0002629 | +| MONDO:0857378 | adrenal cortical oncocytic adenoma | NCIT:C48447 | MONDO:equivalentTo | Adrenal Cortical Oncocytic Adenoma | A usually non-functioning variant of adrenal cortex adenoma, composed of large cells with abundant granular eosinophilic cytoplasm. | MONDO:0003924|MONDO:0003424 | +| MONDO:0857379 | androgen-producing adrenal cortical adenoma | NCIT:C48454 | MONDO:equivalentTo | Androgen-Producing Adrenal Cortical Adenoma | A rare adenoma of the adrenal cortex that produces androgens. Female patients usually have symptoms related to virilism. | MONDO:0006408 | +| MONDO:0857380 | estrogen-producing adrenal cortical adenoma | NCIT:C48456 | MONDO:equivalentTo | Estrogen-Producing Adrenal Cortical Adenoma | A rare adenoma of the adrenal cortex that produces estrogens. Male patients may develop gynecomastia and impotence. | MONDO:0006408 | +| MONDO:0857382 | invasive prostate carcinoma | NCIT:C48596 | MONDO:equivalentTo | Invasive Prostate Carcinoma | A carcinoma that is not confined to the prostatic epithelium but has spread to the surrounding stroma of the prostate gland. The vast majority of invasive prostate carcinomas are adenocarcinomas. | MONDO:0005159|MONDO:0040677 | +| MONDO:0857383 | minimal deviation melanoma | NCIT:C48612 | MONDO:equivalentTo | Minimal Deviation Melanoma | A melanocytic neoplasm displaying morphologic features that are intermediate between those of benign nevus and melanoma. It is characterized by a nodular architectural growth resembling a melanoma, and a loss of nevus cell maturation. The melanocytic cells forming the nodular growth are uniform, and they may display a high mitotic rate, but they do not show cytologic atypia. | MONDO:0005012 | +| MONDO:0857384 | melanoma arising in congenital melanocytic nevus | NCIT:C48613 | MONDO:equivalentTo | Melanoma Arising in Congenital Melanocytic Nevus | A melanoma of the skin arising in a congenital melanocytic nevus. | MONDO:0005012 | +| MONDO:0857385 | desmoplastic neurotropic melanoma | NCIT:C48614 | MONDO:equivalentTo | Desmoplastic Neurotropic Melanoma | A desmoplastic melanoma characterized by the presence of nerve infiltration by atypical spindled melanocytes. | MONDO:0044785 | +| MONDO:0857386 | mucosal lentiginous melanoma | NCIT:C48622 | MONDO:equivalentTo | Mucosal Lentiginous Melanoma | An acral lentiginous melanoma affecting mucosal surfaces. | MONDO:0000544 | +| MONDO:0857388 | metastatic malignant neoplasm in the trachea | NCIT:C4887 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Trachea | A malignant neoplasm that has spread to the trachea from another anatomic site. | MONDO:0024880|MONDO:0001407 | +| MONDO:0857389 | splenic lymphoma | NCIT:C48873 | MONDO:equivalentTo | Splenic Lymphoma | A non-Hodgkin lymphoma or rarely Hodgkin lymphoma that arises from the spleen. | MONDO:0017207|MONDO:0005966 | +| MONDO:0857390 | dedifferentiated chordoma | NCIT:C48876 | MONDO:equivalentTo | Dedifferentiated Chordoma | A high-grade malignant bone tumor arising from the remnants of the notochord. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells, and a sarcomatous component. | MONDO:0008978 | +| MONDO:0857391 | benign lung hilum neoplasm | NCIT:C4888 | MONDO:equivalentTo | Benign Lung Hilum Neoplasm | A neoplasm that arises from the hilar region of lung and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0003639|MONDO:0002732 | +| MONDO:0857393 | hiv lipodystrophy | NCIT:C48899 | MONDO:equivalentTo | HIV Lipodystrophy | A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the breast and cervical areas, and an accumulation of visceral fat. It is associated with antiretroviral therapy. Clinical presentation includes hyperlipidemia, insulin resistance, and fat atrophy of the face and limbs. | MONDO:0006573|MONDO:0006574 | +| MONDO:0857394 | gardner fibroma | NCIT:C49017 | MONDO:equivalentTo | Gardner Fibroma | An uncommon, poorly circumscribed, benign neoplasm arising in the soft tissues of infants, children and adolescents. It is characterized by the presence of haphazardly arranged spindle-shaped fibroblasts, collagenous stroma formation, and plaque-like growth pattern. There is a strong genetic component associating the neoplasm with Gardners syndrome and deep fibromatosis/desmoid tumor. | MONDO:0005167 | +| MONDO:0857397 | skin fibrous histiocytoma, fibroblastic variant | NCIT:C49076 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Fibroblastic Variant | A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of spindle-shaped fibrohistiocytic cells and associated acanthosis. | MONDO:0006717 | +| MONDO:0857398 | skin fibrous histiocytoma, histiocytic variant | NCIT:C49077 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Histiocytic Variant | A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of xanthomatous fibrohistiocytic cells, giant cells, and hemosiderin deposition. | MONDO:0006717 | +| MONDO:0857399 | skin fibrous histiocytoma, cellular variant | NCIT:C49078 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Cellular Variant | A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of spindle-shaped fibrohistiocytic cells and increased cellularity. | MONDO:0006717 | +| MONDO:0857400 | skin fibrous histiocytoma, epithelioid variant | NCIT:C49079 | MONDO:equivalentTo | Skin Fibrous Histiocytoma, Epithelioid Variant | A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of epithelioid fibrohistiocytic cells. | MONDO:0006717 | +| MONDO:0857401 | solid angioleiomyoma | NCIT:C49110 | MONDO:equivalentTo | Solid Angioleiomyoma | A morphologic variant of angioleiomyoma characterized by the presence of numerous small, slit-like vascular channels. | MONDO:0006646 | +| MONDO:0857402 | venous angioleiomyoma | NCIT:C49111 | MONDO:equivalentTo | Venous Angioleiomyoma | A morphologic variant of angioleiomyoma characterized by the presence of thick-walled veins. | MONDO:0006646 | +| MONDO:0857403 | cavernous angioleiomyoma | NCIT:C49115 | MONDO:equivalentTo | Cavernous Angioleiomyoma | A morphologic variant of angioleiomyoma characterized by the presence of markedly dilated vascular channels. | MONDO:0006646 | +| MONDO:0857404 | conventional cardiac rhabdomyoma | NCIT:C49179 | MONDO:equivalentTo | Conventional Cardiac Rhabdomyoma | A cardiac rhabdomyoma characterized by the presence of neoplastic large striated muscle cells with clear cytoplasm and spider cells. | MONDO:0006123 | +| MONDO:0857405 | anaplastic embryonal rhabdomyosarcoma | NCIT:C49204 | MONDO:equivalentTo | Anaplastic Embryonal Rhabdomyosarcoma | A morphologic variant of embryonal rhabdomyosarcoma. It is characterized by the presence of large hyperchromatic and anaplastic cells. | MONDO:0009993 | +| MONDO:0857407 | duodenal adenoma | NCIT:C4932 | MONDO:equivalentTo | Duodenal Adenoma | A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. | MONDO:0021303|MONDO:0006734 | +| MONDO:0857409 | benign lymphoproliferative disorder | NCIT:C4939 | MONDO:equivalentTo | Benign Lymphoproliferative Disorder | A proliferation of lymphocytes without atypia seen in infections, hypersensitivity reactions or autoimmune diseases. | | +| MONDO:0857412 | intracranial neoplasm | NCIT:C4953 | MONDO:equivalentTo | Intracranial Neoplasm | A benign or malignant neoplasm that arises from or metastasizes to structures within the cranium. This includes meningeal and other tumors that occur in the spaces that surround the brain, and neoplasms of the brain. | MONDO:0006130 | +| MONDO:0857413 | leptomeningeal neoplasm | NCIT:C4958 | MONDO:equivalentTo | Leptomeningeal Neoplasm | A malignant neoplasm that has spread from its original site to the two innermost layers of tissue that cover the brain and spinal cord. | MONDO:0016743 | +| MONDO:0857415 | benign infratentorial neoplasm | NCIT:C4965 | MONDO:equivalentTo | Benign Infratentorial Neoplasm | A neoplasm that arises from the infratentorial region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021451|MONDO:0037736 | +| MONDO:0857417 | primary brain stem neoplasm | NCIT:C4975 | MONDO:equivalentTo | Primary Brain Stem Neoplasm | A neoplasm that originates from the brain stem. | MONDO:0021228|MONDO:0021632 | +| MONDO:0857419 | carcinoma unspecified site | NCIT:C4979 | MONDO:equivalentTo | Carcinoma Unspecified Site | Carcinoma in which the site of involvement is not specified. | MONDO:0004993 | +| MONDO:0857430 | verrucous lesion | NCIT:C5028 | MONDO:equivalentTo | Verrucous Lesion | A papillomavirus related epithelial overgrowth. It can be located anywhere on the body though when it involves the perineal region it is generally referred to as condyloma acuminatum. | MONDO:0002532 | +| MONDO:0857438 | primary cerebral diffuse large b-cell lymphoma | NCIT:C5054 | MONDO:equivalentTo | Primary Cerebral Diffuse Large B-Cell Lymphoma | A diffuse large B-cell lymphoma that arises in the cerebrum. | MONDO:0003655|MONDO:0017596 | +| MONDO:0857466 | renomedullary interstitial cell tumor | NCIT:C5100 | MONDO:equivalentTo | Renomedullary Interstitial Cell Tumor | A benign, asymptomatic kidney tumor arising from renomedullary interstitial cells. It is often found incidentally at the time of nephrectomy in adults. These tumors are either single or multiple and usually measure 1-10 mm in diameter. Microscopically the tumor cells are small, stellate, or spindled cells, embedded in a faintly basophilic stroma reminiscent of renal medullary stroma. (WHO 2016) | MONDO:0002513 | +| MONDO:0857469 | solid glomus tumor | NCIT:C51133 | MONDO:equivalentTo | Solid Glomus Tumor | The most common morphologic variant of glomus tumor. It is characterized by the presence of a nest of glomus cells surrounding capillary sized vessels. | MONDO:0018327 | +| MONDO:0857473 | adult central nervous system neoplasm | NCIT:C5131 | MONDO:equivalentTo | Adult Central Nervous System Neoplasm | A benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in adults. Representative examples of primary neoplasms include astrocytoma, meningioma, pituitary adenoma, and neurilemoma. Representative examples of tumor metastases from other organs to the central nervous system include lung and breast carcinoma. | MONDO:0006130 | +| MONDO:0857476 | breast ductal carcinoma in situ, non-comedo type | NCIT:C5137 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Non-Comedo Type | Breast ductal carcinoma in situ characterized by the presence of sheets of tumor cells without evidence of central necrosis or cell death. | MONDO:0005023 | +| MONDO:0857477 | invasive breast cribriform carcinoma | NCIT:C5142 | MONDO:equivalentTo | Invasive Breast Cribriform Carcinoma | An invasive adenocarcinoma of the breast with a favorable clinical outcome, characterized by the presence of a sieve-like or cribriform infiltrating pattern. | MONDO:0004988|MONDO:0006256|MONDO:0006176 | +| MONDO:0857478 | malignant breast adenomyoepithelioma | NCIT:C5143 | MONDO:equivalentTo | Malignant Breast Adenomyoepithelioma | An adenomyoepithelioma of the breast in which the epithelial, myoepithelial, or both components have undergone malignant transformation. Such cases may follow an aggressive clinical course, including recurrences and local and distant metastases. | MONDO:0002066|MONDO:0007254 | +| MONDO:0857479 | infratentorial glioblastoma | NCIT:C5148 | MONDO:equivalentTo | Infratentorial Glioblastoma | A glioblastoma that occurs in the infratentorial region. | MONDO:0003107|MONDO:0002501 | +| MONDO:0857480 | supratentorial glioblastoma | NCIT:C5149 | MONDO:equivalentTo | Supratentorial Glioblastoma | A glioblastoma that occurs in the supratentorial region. | MONDO:0002071|MONDO:0002501 | +| MONDO:0857482 | breast high grade mucoepidermoid carcinoma | NCIT:C5167 | MONDO:equivalentTo | Breast High Grade Mucoepidermoid Carcinoma | An aggressive mucoepidermoid carcinoma that arises from the breast. It is characterized by the presence of focal necrosis and high mitotic activity. Lymph node and distant metastases are common. The prognosis is usually poor. | MONDO:0003087 | +| MONDO:0857483 | breast low grade mucoepidermoid carcinoma | NCIT:C5168 | MONDO:equivalentTo | Breast Low Grade Mucoepidermoid Carcinoma | A slow growing mucoepidermoid carcinoma that arises from the breast. It is characterized by the presence of keratinization in the neoplastic squamous cells and lumina formation by glandular neoplastic cells. Complete excision may be curative. | MONDO:0003087 | +| MONDO:0857486 | breast non-hodgkin lymphoma | NCIT:C5181 | MONDO:equivalentTo | Breast Non-Hodgkin Lymphoma | A non-Hodgkin lymphoma that arises from the breast. There is no history of extramammary breast non-Hodgkin lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast non-Hodgkin lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. | MONDO:0018908|MONDO:0003661 | +| MONDO:0857487 | breast complex fibroadenoma | NCIT:C5194 | MONDO:equivalentTo | Breast Complex Fibroadenoma | A breast fibroadenoma that displays fibrocystic changes including apocrine metaplasia, sclerosing adenosis, and cyst formation. | MONDO:0002056 | +| MONDO:0857488 | benign nipple neoplasm | NCIT:C5197 | MONDO:equivalentTo | Benign Nipple Neoplasm | A neoplasm that arises from the nipple and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0000620|MONDO:0002482 | +| MONDO:0857490 | breast papillary neoplasm | NCIT:C5206 | MONDO:equivalentTo | Breast Papillary Neoplasm | A benign or malignant papillary neoplasm that arises from the breast. It is characterized by the presence of epithelial proliferations that are supported by fibrovascular cores. Representative examples are intraductal papilloma and papillary carcinoma. | MONDO:0021100|MONDO:0021096 | +| MONDO:0857492 | malignant nipple neoplasm | NCIT:C5213 | MONDO:equivalentTo | Malignant Nipple Neoplasm | A malignant neoplasm that affects the area of the nipple. | MONDO:0007254|MONDO:0002482 | +| MONDO:0857493 | benign ovarian thecoma | NCIT:C5219 | MONDO:equivalentTo | Benign Ovarian Thecoma | A thecoma of the ovary that does not metastasize to other anatomic sites. | MONDO:0024387|MONDO:0037253 | +| MONDO:0857496 | ovarian soft tissue neoplasm | NCIT:C5244 | MONDO:equivalentTo | Ovarian Soft Tissue Neoplasm | A benign, intermediate, or malignant mesenchymal neoplasm of the ovary. Representative examples include leiomyoma, myxoma, and sarcoma. | MONDO:0006424|MONDO:0021068 | +| MONDO:0857498 | gastric burkitt lymphoma | NCIT:C5251 | MONDO:equivalentTo | Gastric Burkitt Lymphoma | An extranodal Burkitt lymphoma that arises from the stomach with the bulk of the mass located in the stomach. | MONDO:0042493|MONDO:0007243 | +| MONDO:0857499 | gastric t-cell non-hodgkin lymphoma | NCIT:C5254 | MONDO:equivalentTo | Gastric T-Cell Non-Hodgkin Lymphoma | A rare, extranodal T-cell non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. | MONDO:0042493|MONDO:0015760 | +| MONDO:0857502 | deletion of the short arm of chromosome 1 (1p) associated meningioma | NCIT:C5294 | MONDO:equivalentTo | Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma | A meningioma that is associated with deletion of chromosomal arm 1p. | MONDO:0016642 | +| MONDO:0857503 | deletion of chromosome 22 associated meningioma | NCIT:C5305 | MONDO:equivalentTo | Deletion of Chromosome 22 Associated Meningioma | A meningioma that is associated with deletion of chromosome 22. This abnormality is the most consistent cytogenetic finding that is detected in meningiomas. | MONDO:0016642 | +| MONDO:0857504 | deletion of chromosome 3p associated meningioma | NCIT:C5306 | MONDO:equivalentTo | Deletion of Chromosome 3p Associated Meningioma | A meningioma that is associated with deletion of chromosomal arm 3p. | MONDO:0016642 | +| MONDO:0857507 | extra-adrenal retroperitoneal paraganglioma | NCIT:C5328 | MONDO:equivalentTo | Extra-Adrenal Retroperitoneal Paraganglioma | A sympathetic paraganglioma arising from the retroperitoneum, outside the adrenal gland. | MONDO:0024645|MONDO:0000550 | +| MONDO:0857508 | hereditary paraganglioma | NCIT:C5329 | MONDO:equivalentTo | Hereditary Paraganglioma | A hereditary neoplasm arising from paraganglia. The majority of cases (up to 80%) are multifocal. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes. | MONDO:0000448 | +| MONDO:0857513 | great vessel neoplasm | NCIT:C5348 | MONDO:equivalentTo | Great Vessel Neoplasm | A neoplasm involving a great vessel. | MONDO:0024757 | +| MONDO:0857514 | mesenchymal chondrosarcoma of bone | NCIT:C53493 | MONDO:equivalentTo | Mesenchymal Chondrosarcoma of Bone | A morphologic variant of chondrosarcoma arising from the bone. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. | MONDO:0021054|MONDO:0006853 | +| MONDO:0857518 | cardiac schwannoma | NCIT:C5358 | MONDO:equivalentTo | Cardiac Schwannoma | A benign peripheral nervous system neoplasm that is composed of well-differentiated Schwann cells and affects the heart. | MONDO:0021450|MONDO:0004820 | +| MONDO:0857519 | cardiac epithelioid hemangioendothelioma | NCIT:C5362 | MONDO:equivalentTo | Cardiac Epithelioid Hemangioendothelioma | A low-grade malignant blood vessel neoplasm, arising from the heart. IIt is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. | MONDO:0015523|MONDO:0001340 | +| MONDO:0857520 | cardiac kaposi sarcoma | NCIT:C5363 | MONDO:equivalentTo | Cardiac Kaposi Sarcoma | A Kaposi sarcoma arising from the heart. | MONDO:0005055|MONDO:0003354 | +| MONDO:0857524 | cardiac myeloid sarcoma | NCIT:C5370 | MONDO:equivalentTo | Cardiac Myeloid Sarcoma | A rare extramedullary myeloid tumor that arises from the heart. It may present in association with or as a site of relapse of acute myeloid leukemia. Rare cases of myeloid sarcoma of the heart preceding acute myeloid leukemia have also been reported. | MONDO:0001340|MONDO:0006861 | +| MONDO:0857525 | secondary osteosarcoma | NCIT:C53704 | MONDO:equivalentTo | Secondary Osteosarcoma | An osteosarcoma arising from a pre-existing lesion of the bone, usually Paget disease, or due to radiation therapy. | MONDO:0002629|MONDO:0024881 | +| MONDO:0857526 | malignant inferior vena cava neoplasm | NCIT:C5377 | MONDO:equivalentTo | Malignant Inferior Vena Cava Neoplasm | A malignant neoplasm involving the inferior vena cava. | MONDO:0040676 | +| MONDO:0857527 | malignant superior vena cava neoplasm | NCIT:C5379 | MONDO:equivalentTo | Malignant Superior Vena Cava Neoplasm | A malignant neoplasm involving the superior vena cava. | MONDO:0040676 | +| MONDO:0857528 | malignant pulmonary artery neoplasm | NCIT:C5380 | MONDO:equivalentTo | Malignant Pulmonary Artery Neoplasm | A malignant neoplasm involving the pulmonary artery. | MONDO:0040676 | +| MONDO:0857529 | malignant pulmonary vein neoplasm | NCIT:C5383 | MONDO:equivalentTo | Malignant Pulmonary Vein Neoplasm | A malignant neoplasm involving the pulmonary vein. | MONDO:0040676 | +| MONDO:0857532 | leiomyosarcoma of vessels | NCIT:C5387 | MONDO:equivalentTo | Leiomyosarcoma of Vessels | An aggressive malignant smooth muscle neoplasm, arising from the walls of the vascular system. It is characterized by a proliferation of neoplastic spindle cells. | MONDO:0005058 | +| MONDO:0857533 | benign atrial neoplasm | NCIT:C5389 | MONDO:equivalentTo | Benign Atrial Neoplasm | A neoplasm that arises from the right or left atrium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021450 | +| MONDO:0857535 | solitary adult fibroma | NCIT:C5394 | MONDO:equivalentTo | Solitary Adult Fibroma | A solitary benign neoplasm arising from the fibrous soft tissues. The tumor is characterized by the presence of spindle-shaped fibroblasts. | MONDO:0005167 | +| MONDO:0857536 | fibrous histiocytoma of bone | NCIT:C53963 | MONDO:equivalentTo | Fibrous Histiocytoma of Bone | A rare, benign neoplasm usually arising from the non-metaphyseal regions of long bones or pelvis. It is characterized by the presence of fibroblastic spindle cells arranged in a whorled storiform pattern, osteoclast-like giant cells, foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. | MONDO:0000631|MONDO:0002989 | +| MONDO:0857537 | bone leiomyoma | NCIT:C53964 | MONDO:equivalentTo | Bone Leiomyoma | A rare leiomyoma affecting the bone. | MONDO:0001572 | +| MONDO:0857542 | benign gastrointestinal stromal tumor | NCIT:C53998 | MONDO:equivalentTo | Benign Gastrointestinal Stromal Tumor | A gastrointestinal stromal tumor that is characterized by a maximum diameter equal or less than 5 cm (gastric localization), or equal or less than 2 cm (intestinal localization) and no more than 5 mitotic figures per 50 high power fields. | MONDO:0044335|MONDO:0011719 | +| MONDO:0857543 | malignant gastrointestinal stromal tumor | NCIT:C53999 | MONDO:equivalentTo | Malignant Gastrointestinal Stromal Tumor | A gastrointestinal stromal tumor that is characterized by large size (diameter greater than 10 cm for gastric localization and greater than 5 cm for intestinal localization) or more than 5 mitotic figures per 50 high power fields. | MONDO:0011719|MONDO:0044337 | +| MONDO:0857546 | region 17p13 allelic loss associated medulloblastoma | NCIT:C5402 | MONDO:equivalentTo | Region 17p13 Allelic Loss Associated Medulloblastoma | A medulloblastoma characterized by the loss of one of the p13 regions of chromosome 17. Loss of genetic material of chromosome arm 17p is the most common molecular genetic abnormality found in medulloblastomas. | MONDO:0007959 | +| MONDO:0857547 | nevoid basal cell carcinoma syndrome associated medulloblastoma | NCIT:C5405 | MONDO:equivalentTo | Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma | A medulloblastoma developing in patients with multiple basal cell carcinomas. It is observed in patients with nevoid basal cell carcinoma syndrome and it is associated with PTCH gene inactivation. | MONDO:0007959 | +| MONDO:0857548 | central nervous system t-cell non-hodgkin lymphoma | NCIT:C5409 | MONDO:equivalentTo | Central Nervous System T-Cell Non-Hodgkin Lymphoma | A T-cell lymphoblastic lymphoma or a mature T-cell and NK-cell neoplasm that affects the brain, meninges, or spinal cord. | MONDO:0015760|MONDO:0044887 | +| MONDO:0857549 | gastric granular cell tumor | NCIT:C54094 | MONDO:equivalentTo | Gastric Granular Cell Tumor | A benign or malignant granular cell tumor that arises from the stomach. | MONDO:0006235|MONDO:0021085 | +| MONDO:0857550 | malignant central nervous system germ cell tumor | NCIT:C54099 | MONDO:equivalentTo | Malignant Central Nervous System Germ Cell Tumor | A germ cell tumor that affects the central nervous system, characterized by the presence of malignant morphologic characteristics. Representative examples include choriocarcinoma, embryonal carcinoma, and germinoma. | MONDO:0003000|MONDO:0002714|MONDO:0003113 | +| MONDO:0857552 | breast columnar cell lesion | NCIT:C54180 | MONDO:equivalentTo | Breast Columnar Cell Lesion | A morphologic spectrum of lesions that arise in the terminal ductal lobular units of the breast parenchyma. These lesions are characterized by the presence of columnar epithelial cells that line dilated terminal ductal lobular units. Cytological and architectural atypia may be absent or minimal, or significant enough to raise the possibility of atypical ductal hyperplasia or ductal carcinoma in situ. Columnar cell lesions are frequently found in breast biopsies but their biologic significance is not known. | MONDO:0021100 | +| MONDO:0857556 | head and neck keratinizing squamous cell carcinoma | NCIT:C54283 | MONDO:equivalentTo | Head and Neck Keratinizing Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the head and neck region and is characterized by prominent production of keratin. | MONDO:0005056|MONDO:0010150 | +| MONDO:0857559 | metastasizing ameloblastoma | NCIT:C54297 | MONDO:equivalentTo | Metastasizing Ameloblastoma | A rare, well differentiated, cytologically benign ameloblastoma which paradoxically metastasizes. | MONDO:0024883|MONDO:0017795 | +| MONDO:0857562 | lipomatosis of nerve | NCIT:C5431 | MONDO:equivalentTo | Lipomatosis of Nerve | A tumor composed of mature adipocytes and fibrous tissue infiltrating the epineurium and peripheral nerves. It is often seen at birth or during childhood and may be associated with macrodactyly. | MONDO:0000648|MONDO:0001406|MONDO:0006574 | +| MONDO:0857564 | laryngeal papillary squamous cell carcinoma | NCIT:C54335 | MONDO:equivalentTo | Laryngeal Papillary Squamous Cell Carcinoma | A variant of squamous cell carcinoma that arises from the larynx. It is characterized by exophytic and papillary growth usually in the supraglottic area. The papillae are covered by a malignant stratified squamous epithelium. | MONDO:0002979|MONDO:0005595 | +| MONDO:0857565 | laryngeal spindle cell squamous carcinoma | NCIT:C54336 | MONDO:equivalentTo | Laryngeal Spindle Cell Squamous Carcinoma | A squamous cell carcinoma that arises from the larynx. It is characterized by the presence of a malignant spindle cell cellular component. In some cases, there is a biphasic morphology due to the presence of a well-differentiated squamous cell carcinoma component. The latter is either in situ or invasive squamous cell carcinoma. | MONDO:0005595|MONDO:0021663 | +| MONDO:0857566 | laryngeal acantholytic squamous cell carcinoma | NCIT:C54337 | MONDO:equivalentTo | Laryngeal Acantholytic Squamous Cell Carcinoma | A rare variant of squamous cell carcinoma that arises from the larynx. It is characterized by acantholysis of the tumor cells that results in the formation of pseudolumina that resemble glandular structures. | MONDO:0003487|MONDO:0005595 | +| MONDO:0857567 | laryngeal adenosquamous carcinoma | NCIT:C54338 | MONDO:equivalentTo | Laryngeal Adenosquamous Carcinoma | A rare, aggressive carcinoma that arises from the larynx. It is characterized by the presence of squamous cell carcinoma and adenocarcinoma components. Hoarseness, sore throat, and dysphagia are the presenting symptoms. | MONDO:0002358|MONDO:0006074 | +| MONDO:0857568 | laryngeal undifferentiated carcinoma | NCIT:C54339 | MONDO:equivalentTo | Laryngeal Undifferentiated Carcinoma | An undifferentiated carcinoma that arises from the larynx. This category includes lymphoepithelial carcinoma and giant cell carcinoma. | MONDO:0005617|MONDO:0002358 | +| MONDO:0857570 | kadish stage c olfactory neuroblastoma | NCIT:C5435 | MONDO:equivalentTo | Kadish Stage C Olfactory Neuroblastoma | An olfactory neuroblastoma that extends beyond the nasal cavity and paranasal sinuses. | MONDO:0006329 | +| MONDO:0857571 | drop metastasis in the spinal cord | NCIT:C5439 | MONDO:equivalentTo | Drop Metastasis in the Spinal Cord | An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid. | MONDO:0044912 | +| MONDO:0857572 | nasopharyngeal low grade papillary adenocarcinoma | NCIT:C54400 | MONDO:equivalentTo | Nasopharyngeal Low Grade Papillary Adenocarcinoma | A low-grade exophytic adenocarcinoma with papillary growth that arises from the epithelium of the nasopharynx. If it is completely removed, the prognosis is excellent. | MONDO:0002512|MONDO:0015459 | +| MONDO:0857574 | meningeal gliomatosis | NCIT:C5446 | MONDO:equivalentTo | Meningeal Gliomatosis | Diffuse or multifocal infiltration of the meninges by malignant glioma. | MONDO:0100342|MONDO:0021322 | +| MONDO:0857575 | invasive breast apocrine carcinoma | NCIT:C5457 | MONDO:equivalentTo | Invasive Breast Apocrine Carcinoma | An invasive breast adenocarcinoma with cytological and immunophenotypic characteristics of apocrine differentiation in more than 90 percent of the malignant cells. | MONDO:0006256|MONDO:0003934 | +| MONDO:0857576 | breast nevus | NCIT:C54658 | MONDO:equivalentTo | Breast Nevus | A benign melanocytic nevus that arises from the breast skin. | MONDO:0044794|MONDO:0000620 | +| MONDO:0857577 | acral nevus | NCIT:C54659 | MONDO:equivalentTo | Acral Nevus | A melanocytic nevus that arises from the palms, soles, and nails. | MONDO:0044794 | +| MONDO:0857578 | flexural skin nevus | NCIT:C54660 | MONDO:equivalentTo | Flexural Skin Nevus | A benign nevus occurring in the flexural skin. | MONDO:0044794 | +| MONDO:0857580 | nevoid melanoma | NCIT:C54662 | MONDO:equivalentTo | Nevoid Melanoma | A rare variant of cutaneous melanoma occurring mostly in adults in their fifth decade. Morphologically it resembles an ordinary compound or dermal nevus. | MONDO:0005012 | +| MONDO:0857581 | signet ring melanoma | NCIT:C54663 | MONDO:equivalentTo | Signet Ring Melanoma | A rare variant of cutaneous melanoma, characterized by the presence of malignant cells with signet-ring morphology. | MONDO:0005012 | +| MONDO:0857583 | invasive breast lobular carcinoma, signet ring variant | NCIT:C54691 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Signet Ring Variant | An invasive lobular carcinoma characterized by the presence of malignant epithelial cells with large intracytoplasmic lumina that cause displacement of the nuclei towards one pole of the cells. | MONDO:0002671|MONDO:0005051 | +| MONDO:0857587 | central nervous system dermoid cyst | NCIT:C5508 | MONDO:equivalentTo | Central Nervous System Dermoid Cyst | A dermoid cyst arising in the central nervous system. | MONDO:0003733|MONDO:0002378 | +| MONDO:0857589 | appendix mucinous cystadenoma | NCIT:C5510 | MONDO:equivalentTo | Appendix Mucinous Cystadenoma | A cystically dilated epithelial neoplasm arising from the appendix. It is characterized by the presence of a cystic structure that is filled with mucus. | MONDO:0006859|MONDO:0006088 | +| MONDO:0857592 | prostate kaposi sarcoma | NCIT:C5523 | MONDO:equivalentTo | Prostate Kaposi Sarcoma | A Kaposi sarcoma arising from the prostate. | MONDO:0002854|MONDO:0005055 | +| MONDO:0857593 | prostate myeloid sarcoma | NCIT:C5527 | MONDO:equivalentTo | Prostate Myeloid Sarcoma | Myeloid sarcoma that affects the prostate gland. It may present in association with or as a site of relapse of acute myeloid leukemia. Cases of myeloid sarcoma of the prostate gland preceding acute myeloid leukemia have also been reported. | MONDO:0008315|MONDO:0006861 | +| MONDO:0857595 | prostate non-hodgkin lymphoma | NCIT:C5534 | MONDO:equivalentTo | Prostate Non-Hodgkin Lymphoma | A rare non-Hodgkin lymphoma that arises from the prostate gland. | MONDO:0018908|MONDO:0000996 | +| MONDO:0857596 | ceruminous neoplasm | NCIT:C5558 | MONDO:equivalentTo | Ceruminous Neoplasm | An adenoma or carcinoma that arises from the ceruminous glands in the external auditory canal. | MONDO:0003686|MONDO:0021235 | +| MONDO:0857599 | stage i skin cancer | NCIT:C5581 | MONDO:equivalentTo | Stage I Skin Cancer | Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness, Clark level equal or greater than IV, and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th ed.) | MONDO:0002656 | +| MONDO:0857600 | stage ii skin cancer | NCIT:C5582 | MONDO:equivalentTo | Stage II Skin Cancer | Stage II includes: T2, N0, M0. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness; Clark level equal or greater than IV; and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th ed.) | MONDO:0002656 | +| MONDO:0857601 | stage iii skin cancer | NCIT:C5583 | MONDO:equivalentTo | Stage III Skin Cancer | Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor with invasion of maxilla, mandible, orbit, or temporal bone. T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th Ed.) | MONDO:0002656 | +| MONDO:0857602 | stage iv skin cancer | NCIT:C5584 | MONDO:equivalentTo | Stage IV Skin Cancer | Stage IV includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T Any, N3, M0); (T4, N Any, M0); (T Any, N Any, M1). T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. T3: Tumor with invasion of maxilla, mandible, orbit, or temporal bone. T4: Tumor with invasion of skeleton or perineural invasion of skull base. N0: No regional lymph node metastasis. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M1: Distant metastases. (AJCC 7th Ed.) | MONDO:0002656 | +| MONDO:0857604 | jugular foramen neoplasm | NCIT:C5589 | MONDO:equivalentTo | Jugular Foramen Neoplasm | A neoplasm that affects the jugular foramen. Representative examples include paraganglioma, schwannoma, and meningioma. | MONDO:0021351 | +| MONDO:0857607 | benign anal granular cell tumor | NCIT:C5607 | MONDO:equivalentTo | Benign Anal Granular Cell Tumor | A granular cell tumor that arises from the anus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021469|MONDO:0003250 | +| MONDO:0857611 | metastatic malignant neoplasm in the skin | NCIT:C5629 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Skin | The spread of a malignant neoplasm to the skin. This may be from a primary skin malignant neoplasm, or from a malignant neoplasm at a distant site. | MONDO:0002898|MONDO:0024880 | +| MONDO:0857613 | occult lung carcinoma | NCIT:C5641 | MONDO:equivalentTo | Occult Lung Carcinoma | A lung carcinoma detectable by sputum cytology or bronchial washings only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. | MONDO:0005138 | +| MONDO:0857614 | endobronchial hamartoma | NCIT:C5662 | MONDO:equivalentTo | Endobronchial Hamartoma | A benign neoplasm that arises endobronchially. It is characterized by the presence of mesenchymal tissues admixed with entrapped respiratory epithelium. It presents with signs and symptoms of bronchial obstruction. Bronchoplastic resection is usually curative. Recurrence is very rare. | MONDO:0021540 | +| MONDO:0857615 | multiple pulmonary hamartomas | NCIT:C5663 | MONDO:equivalentTo | Multiple Pulmonary Hamartomas | The presence of multiple hamartomas in the lungs. Hamartomas are usually solitary lesions on chest-x-rays. Multiple lung hamartomas are rare. | MONDO:0021540 | +| MONDO:0857619 | colorectal adenoma with severe dysplasia | NCIT:C5685 | MONDO:equivalentTo | Colorectal Adenoma with Severe Dysplasia | An adenoma that arises from the colon or rectum. It is characterized by the presence of severe epithelial dysplasia. | MONDO:0005484 | +| MONDO:0857623 | esophageal schwannoma | NCIT:C5703 | MONDO:equivalentTo | Esophageal Schwannoma | A slowly growing, benign, usually encapsulated neoplasm arising from the esophagus. Morphologically, it is composed of neoplastic differentiated Schwann cells. | MONDO:0021459|MONDO:0004820 | +| MONDO:0857629 | extrahepatic bile duct undifferentiated carcinoma | NCIT:C5780 | MONDO:equivalentTo | Extrahepatic Bile Duct Undifferentiated Carcinoma | A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts. | MONDO:0005617|MONDO:0003090 | +| MONDO:0857635 | esophageal neuroendocrine neoplasm | NCIT:C5821 | MONDO:equivalentTo | Esophageal Neuroendocrine Neoplasm | A neoplasm with neuroendocrine differentiation that arises from the esophagus. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO:0021355|MONDO:0024503 | +| MONDO:0857638 | extrahepatic bile duct tubular adenoma | NCIT:C5850 | MONDO:equivalentTo | Extrahepatic Bile Duct Tubular Adenoma | An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a tubular pattern. | MONDO:0003445|MONDO:0024660 | +| MONDO:0857646 | oral cavity granular cell tumor | NCIT:C5912 | MONDO:equivalentTo | Oral Cavity Granular Cell Tumor | A rare neoplasm that arises from the oral cavity, usually the tongue. It is characterized by the presence of plump eosinophilic cells with abundant granular cytoplasm. The neoplastic cells extend into the surrounding tissues, usually skeletal muscle. The vast majority of cases follow a benign clinical course. Recurrences are rare after removal of the tumor. | MONDO:0006235|MONDO:0021245 | +| MONDO:0857647 | oral cavity adenoma | NCIT:C5913 | MONDO:equivalentTo | Oral Cavity Adenoma | A monomorphic or pleomorphic adenoma that arises from the salivary glands in the oral cavity. | MONDO:0004972|MONDO:0021445|MONDO:0036976 | +| MONDO:0857648 | oral cavity adenocarcinoma | NCIT:C5914 | MONDO:equivalentTo | Oral Cavity Adenocarcinoma | An adenocarcinoma that arises from the oral cavity. | MONDO:0044925|MONDO:0004970 | +| MONDO:0857660 | minor salivary gland mucoepidermoid carcinoma | NCIT:C5953 | MONDO:equivalentTo | Minor Salivary Gland Mucoepidermoid Carcinoma | A carcinoma that arises from the minor salivary glands. It usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. | MONDO:0021009|MONDO:0045069 | +| MONDO:0857661 | minor salivary gland small cell neuroendocrine carcinoma | NCIT:C5956 | MONDO:equivalentTo | Minor Salivary Gland Small Cell Neuroendocrine Carcinoma | An infrequent small cell carcinoma that arises from a minor salivary gland. It is characterized by the presence of neuroendocrine differentiation and a high number of mitotic figures. | MONDO:0006405|MONDO:0045069 | +| MONDO:0857663 | minor salivary gland squamous cell carcinoma | NCIT:C5959 | MONDO:equivalentTo | Minor Salivary Gland Squamous Cell Carcinoma | A squamous cell carcinoma that affects the minor salivary glands. | MONDO:0045069|MONDO:0044740 | +| MONDO:0857671 | oropharyngeal polyp | NCIT:C5988 | MONDO:equivalentTo | Oropharyngeal Polyp | A benign exophytic growth that arises from the oropharynx. | MONDO:0005079|MONDO:0021479 | +| MONDO:0857679 | lung mature b-cell neoplasm | NCIT:C60310 | MONDO:equivalentTo | Lung Mature B-Cell Neoplasm | A neoplasm that arises from mature B-lymphocytes or plasma cells in the lung. Representative examples include mucosa-associated lymphoid tissue lymphoma, diffuse large B-cell lymphoma, lymphomatoid granulomatosis, and primary pulmonary plasmacytoma. | MONDO:0021117|MONDO:0004949 | +| MONDO:0857682 | nasopharyngeal polyp | NCIT:C6034 | MONDO:equivalentTo | Nasopharyngeal Polyp | A benign exophytic growth that arises from the nasopharynx. | MONDO:0005079|MONDO:0021478 | +| MONDO:0857683 | stage 0 nasopharyngeal undifferentiated carcinoma ajcc v6, v7, and v8 | NCIT:C6035 | MONDO:equivalentTo | Stage 0 Nasopharyngeal Undifferentiated Carcinoma AJCC v6, v7, and v8 | Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.) | MONDO:0021297|MONDO:0021537 | +| MONDO:0857685 | nasopharyngeal squamous papilloma | NCIT:C6037 | MONDO:equivalentTo | Nasopharyngeal Squamous Papilloma | A benign exophytic neoplasm that arises from the nasopharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. | MONDO:0021478|MONDO:0001825 | +| MONDO:0857686 | oropharyngeal squamous papilloma | NCIT:C6038 | MONDO:equivalentTo | Oropharyngeal Squamous Papilloma | A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. | MONDO:0001825|MONDO:0021479 | +| MONDO:0857687 | stage 0 oropharyngeal squamous cell carcinoma ajcc v6 and v7 | NCIT:C6039 | MONDO:equivalentTo | Stage 0 Oropharyngeal Squamous Cell Carcinoma AJCC v6 and v7 | Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0044704|MONDO:0021298 | +| MONDO:0857689 | stage 0 hypopharyngeal squamous cell carcinoma ajcc v6, v7, and v8 | NCIT:C6048 | MONDO:equivalentTo | Stage 0 Hypopharyngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 | Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.) | MONDO:0021288|MONDO:0044638 | +| MONDO:0857690 | stage 0 oral cavity squamous cell carcinoma ajcc v6 and v7 | NCIT:C6052 | MONDO:equivalentTo | Stage 0 Oral Cavity Squamous Cell Carcinoma AJCC v6 and v7 | Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0004958|MONDO:0000371|MONDO:0004693 | +| MONDO:0857692 | anterior tongue neoplasm | NCIT:C6062 | MONDO:equivalentTo | Anterior Tongue Neoplasm | A benign or malignant neoplasm that affects the anterior portion of the tongue. | MONDO:0021240 | +| MONDO:0857697 | neck carcinoma | NCIT:C6077 | MONDO:equivalentTo | Neck Carcinoma | A carcinoma that arises from the anatomic structures of the neck region. | MONDO:0021310|MONDO:0002038 | +| MONDO:0857698 | external ear actinic keratosis | NCIT:C6080 | MONDO:equivalentTo | External Ear Actinic Keratosis | Actinic keratosis that develops in the skin of the external ear. | MONDO:0021235|MONDO:0005173 | +| MONDO:0857700 | middle ear paraganglioma | NCIT:C6085 | MONDO:equivalentTo | Middle Ear Paraganglioma | A jugulotympanic paraganglioma arising from paraganglia in the middle ear. | MONDO:0021366|MONDO:0021064 | +| MONDO:0857702 | benign uveal neoplasm | NCIT:C6104 | MONDO:equivalentTo | Benign Uveal Neoplasm | A neoplasm that arises from the uvea and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.. | MONDO:0021225|MONDO:0021454 | +| MONDO:0857703 | stage 0 laryngeal squamous cell carcinoma ajcc v6, v7, and v8 | NCIT:C6121 | MONDO:equivalentTo | Stage 0 Laryngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 | Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.) | MONDO:0004693|MONDO:0005595|MONDO:0004696 | +| MONDO:0857715 | testicular typical seminoma | NCIT:C61383 | MONDO:equivalentTo | Testicular Typical Seminoma | A testicular seminoma characterized by the presence of uniform round germ cells with glycogen-rich cytoplasm and large nuclei, and a lymphocytic infiltrate. | MONDO:0003669 | +| MONDO:0857719 | ureter undifferentiated carcinoma | NCIT:C6159 | MONDO:equivalentTo | Ureter Undifferentiated Carcinoma | Undifferentiated carcinoma that affects the ureter. | MONDO:0006481|MONDO:0005617 | +| MONDO:0857720 | urethral undifferentiated carcinoma | NCIT:C6168 | MONDO:equivalentTo | Urethral Undifferentiated Carcinoma | An undifferentiated carcinoma arising from the urethra. | MONDO:0021327|MONDO:0005617 | +| MONDO:0857725 | hard palate mucoepidermoid carcinoma | NCIT:C6214 | MONDO:equivalentTo | Hard Palate Mucoepidermoid Carcinoma | A mucoepidermoid carcinoma arising from the minor salivary glands in the hard palate. | MONDO:0044964|MONDO:0021339 | +| MONDO:0857728 | salivary gland clear cell carcinoma | NCIT:C62191 | MONDO:equivalentTo | Salivary Gland Clear Cell Carcinoma | A carcinoma that arises from the salivary glands, most often the minor salivary glands. It is characterized by the presence of a monomorphic population of malignant epithelial cells with clear cytoplasm and the absence of morphologic features that define other primary neoplasms of the salivary glands. | MONDO:0000521 | +| MONDO:0857729 | breast tubular adenoma | NCIT:C62210 | MONDO:equivalentTo | Breast Tubular Adenoma | A benign, well circumscribed neoplasm that arises from the breast. It is composed entirely of tubular structures that contain epithelial and myoepithelial cells. | MONDO:0002058 | +| MONDO:0857730 | conjunctival squamous papilloma | NCIT:C6224 | MONDO:equivalentTo | Conjunctival Squamous Papilloma | A papilloma that arises from the conjunctival squamous epithelium. It is associated with human papillomavirus infection. | MONDO:0001825|MONDO:0006105 | +| MONDO:0857731 | skin nodular basal cell carcinoma | NCIT:C62282 | MONDO:equivalentTo | Skin Nodular Basal Cell Carcinoma | A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated. | MONDO:0005341 | +| MONDO:0857732 | superficial basal cell carcinoma | NCIT:C62284 | MONDO:equivalentTo | Superficial Basal Cell Carcinoma | A variant of basal cell carcinoma of the skin presenting as erythematous, often multiple patches. Morphologically, it is characterized by the presence of superficial lobules of basaloid cells projecting into the dermis. The basaloid cell lobules are surrounded by myxoid stroma and are usually confined to the papillary dermis. | MONDO:0005341 | +| MONDO:0857734 | minor salivary gland acinic cell carcinoma | NCIT:C6243 | MONDO:equivalentTo | Minor Salivary Gland Acinic Cell Carcinoma | An adenocarcinoma with serous acinar cell differentiation that arises from the minor salivary glands. | MONDO:0006304|MONDO:0006400 | +| MONDO:0857736 | ovarian endometrioid tumor | NCIT:C6257 | MONDO:equivalentTo | Ovarian Endometrioid Tumor | A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. | MONDO:0002480|MONDO:0002229 | +| MONDO:0857738 | childhood cerebral ependymoma, not otherwise specified | NCIT:C6268 | MONDO:equivalentTo | Childhood Cerebral Ependymoma, Not Otherwise Specified | An ependymoma, not otherwise specified that arises from the cerebral hemispheres and occurs during childhood. | MONDO:0004249 | +| MONDO:0857739 | fallopian tube undifferentiated carcinoma | NCIT:C6281 | MONDO:equivalentTo | Fallopian Tube Undifferentiated Carcinoma | An invasive carcinoma arising from the fallopian tube. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation. | MONDO:0005617|MONDO:0006206 | +| MONDO:0857740 | vaginal verrucous carcinoma | NCIT:C6325 | MONDO:equivalentTo | Vaginal Verrucous Carcinoma | A squamous cell carcinoma that arises from the vagina and is characterized by a papillary growth pattern, acanthotic epithelium with minimal or absent atypia, and pushing borders. | MONDO:0006490|MONDO:0006006 | +| MONDO:0857743 | benign uterine corpus mixed epithelial and mesenchymal neoplasm | NCIT:C6335 | MONDO:equivalentTo | Benign Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm | A non-metastasizing neoplasm that arises from the uterine corpus and is composed of epithelial and mesenchymal elements. Representative examples include adenomyoma and adenofibroma. | MONDO:0021525|MONDO:0016255 | +| MONDO:0857744 | cervical undifferentiated carcinoma | NCIT:C6345 | MONDO:equivalentTo | Cervical Undifferentiated Carcinoma | A rare carcinoma that arises from the cervix and is characterized by the lack of specific cellular differentiation. | MONDO:0005617|MONDO:0005131 | +| MONDO:0857745 | testicular mixed embryonal carcinoma and seminoma | NCIT:C6350 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Seminoma | A malignant mixed germ cell tumor arising from the testis. It is characterized by the presence of a mixture of embryonal carcinoma and a seminomatous component. | MONDO:0003120 | +| MONDO:0857746 | testicular mixed embryonal carcinoma and teratoma | NCIT:C6351 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Teratoma | A malignant mixed germ cell tumor arising from the testis, characterized by the presence of an embryonal carcinomatous component and a teratomatous component. | MONDO:0003403|MONDO:0002599|MONDO:0003120 | +| MONDO:0857747 | testicular mixed embryonal carcinoma and teratoma with seminoma | NCIT:C6352 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Teratoma with Seminoma | A malignant mixed germ cell tumor arising from the testis. It is characterized by the presence of a mixture of embryonal carcinoma, a teratomatous component, and a seminomatous component. | MONDO:0003120 | +| MONDO:0857748 | kidney lymphoma | NCIT:C63532 | MONDO:equivalentTo | Kidney Lymphoma | A lymphoma that arises from the kidney. There is no evidence of a systemic lymphoproliferative disorder. | MONDO:0002367|MONDO:0017207 | +| MONDO:0857750 | testicular mature teratoma | NCIT:C6355 | MONDO:equivalentTo | Testicular Mature Teratoma | A teratoma that arises from the testis and is composed of well differentiated, adult-type tissues. | MONDO:0018193|MONDO:0021447|MONDO:0003517 | +| MONDO:0857752 | undifferentiated carcinoma with osteoclast-like giant cells | NCIT:C63622 | MONDO:equivalentTo | Undifferentiated Carcinoma with Osteoclast-Like Giant Cells | A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular or squamous differentiation and giant cells resembling osteoclasts. | MONDO:0005617 | +| MONDO:0857753 | penile kaposi sarcoma | NCIT:C6377 | MONDO:equivalentTo | Penile Kaposi Sarcoma | A Kaposi sarcoma arising from the penis. | MONDO:0022293|MONDO:0005055|MONDO:0001387 | +| MONDO:0857758 | orbit paraganglioma | NCIT:C6408 | MONDO:equivalentTo | Orbit Paraganglioma | An extra-adrenal paraganglioma arising from the orbit. Patients may present with visual disturbances or proptosis. | MONDO:0006239|MONDO:0024611 | +| MONDO:0857759 | laryngeal paraganglioma | NCIT:C6409 | MONDO:equivalentTo | Laryngeal Paraganglioma | An extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to the larynx. Patients may present with hoarseness and dysphagia. | MONDO:0006239|MONDO:0015070|MONDO:0021052 | +| MONDO:0857760 | intrathoracic paravertebral paraganglioma | NCIT:C6411 | MONDO:equivalentTo | Intrathoracic Paravertebral Paraganglioma | An intrathoracic sympathetic paraganglioma arising from paravertebral paraganglia. In functional tumors, the hypersecretion of catecholamines results in hypertension. | MONDO:0000550|MONDO:0021350 | +| MONDO:0857763 | foregut neuroendocrine tumor | NCIT:C6421 | MONDO:equivalentTo | Foregut Neuroendocrine Tumor | A neuroendocrine tumor that arises from the esophagus, stomach, or duodenum. | MONDO:0000386 | +| MONDO:0857765 | hindgut neuroendocrine tumor | NCIT:C6423 | MONDO:equivalentTo | Hindgut Neuroendocrine Tumor | A neuroendocrine tumor that arises from the sigmoid colon, descending colon, or rectum. | MONDO:0000386 | +| MONDO:0857767 | malignant mediastinal nongerminomatous germ cell tumor | NCIT:C6439 | MONDO:equivalentTo | Malignant Mediastinal Nongerminomatous Germ Cell Tumor | An extragonadal nongerminomatous malignant germ cell tumor that arises from the mediastinum. This category includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumors. | MONDO:0003578|MONDO:0006298 | +| MONDO:0857768 | gastric germ cell tumor | NCIT:C6448 | MONDO:equivalentTo | Gastric Germ Cell Tumor | A benign or malignant germ cell tumor that arises from the stomach. Representative examples include teratoma and choriocarcinoma. | MONDO:0018201|MONDO:0021085 | +| MONDO:0857769 | benign germ cell tumor | NCIT:C6449 | MONDO:equivalentTo | Benign Germ Cell Tumor | A germ cell tumor without evidence of atypia and metastatic potential. | MONDO:0005165|MONDO:0005040 | +| MONDO:0857770 | invasive thymoma | NCIT:C6453 | MONDO:equivalentTo | Invasive Thymoma | A thymoma of any morphologic type that extends beyond the capsule and infiltrates the surrounding tissues. | MONDO:0006456 | +| MONDO:0857771 | bone hemangioma | NCIT:C6477 | MONDO:equivalentTo | Bone Hemangioma | A hemangioma arising in the bone. | MONDO:0000631|MONDO:0006500|MONDO:0024499 | +| MONDO:0857772 | bone glomus tumor | NCIT:C6480 | MONDO:equivalentTo | Bone Glomus Tumor | A benign or malignant glomus tumor arising from the bone. | MONDO:0019060|MONDO:0018327 | +| MONDO:0857773 | extraabdominal fibromatosis | NCIT:C6489 | MONDO:equivalentTo | Extraabdominal Fibromatosis | An insidious poorly circumscribed neoplasm arising from the soft tissues outside the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, vascular collagenous stroma formation, and an infiltrative growth pattern. | MONDO:0007608 | +| MONDO:0857774 | deep lipoma | NCIT:C6498 | MONDO:equivalentTo | Deep Lipoma | A benign well-circumscribed tumor, composed of mature adipocytes, that arises within deep soft tissues. | MONDO:0005106 | +| MONDO:0857775 | benign skeletal muscle neoplasm | NCIT:C6515 | MONDO:equivalentTo | Benign Skeletal Muscle Neoplasm | A benign mesenchymal neoplasm arising from skeletal muscle tissue. | MONDO:0002848|MONDO:0003061 | +| MONDO:0857776 | non-small cell carcinoma | NCIT:C65151 | MONDO:equivalentTo | Non-Small Cell Carcinoma | A malignant epithelial neoplasm characterized by the absence of neoplastic small epithelial cells. A representative example is the lung non-small cell carcinoma. | MONDO:0004993 | +| MONDO:0857777 | malignant neoplasm, uncertain whether primary or metastatic | NCIT:C65153 | MONDO:equivalentTo | Malignant Neoplasm, Uncertain Whether Primary or Metastatic | A malignant neoplasm in which the examined tissue can not be determined with certainty if it represents the primary site of tumor growth or tumor spread from another anatomic site. | MONDO:0004992 | +| MONDO:0857778 | papillary carcinoma in situ | NCIT:C65163 | MONDO:equivalentTo | Papillary Carcinoma In Situ | An epithelial neoplasm with a papillary growth pattern in which the malignant cells are confined to the epithelium, without evidence of invasion. | MONDO:0004647|MONDO:0006509 | +| MONDO:0857779 | non-invasive papillary squamous cell carcinoma | NCIT:C65164 | MONDO:equivalentTo | Non-Invasive Papillary Squamous Cell Carcinoma | A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern, hyperkeratosis, and absence of invasion of adjacent tissues. | MONDO:0002979 | +| MONDO:0857780 | inverted squamous papilloma | NCIT:C65165 | MONDO:equivalentTo | Inverted Squamous Papilloma | A benign epithelial neoplasm characterized by an endophytic growth, papillary pattern, and proliferation of neoplastic squamous cells without morphologic evidence of malignancy. | MONDO:0002537|MONDO:0001825 | +| MONDO:0857781 | non-keratinizing large cell squamous cell carcinoma | NCIT:C65173 | MONDO:equivalentTo | Non-Keratinizing Large Cell Squamous Cell Carcinoma | A squamous cell carcinoma composed of large atypical cells, without morphologic evidence of keratin production. | MONDO:0005096 | +| MONDO:0857782 | non-keratinizing small cell squamous cell carcinoma | NCIT:C65175 | MONDO:equivalentTo | Non-Keratinizing Small Cell Squamous Cell Carcinoma | A squamous cell carcinoma composed of small atypical cells, without morphologic evidence of keratin production. | MONDO:0005096 | +| MONDO:0857783 | squamous cell carcinoma in situ with questionable stromal invasion | NCIT:C65176 | MONDO:equivalentTo | Squamous Cell Carcinoma In Situ with Questionable Stromal Invasion | A malignant epithelial neoplasm involving all the layers of the squamous epithelium, but it is not certain if it is confined to the squamous epithelium or it has invaded the basement membrane and the underlying stroma. | MONDO:0005096 | +| MONDO:0857785 | squamous cell carcinoma with horn formation | NCIT:C65179 | MONDO:equivalentTo | Squamous Cell Carcinoma with Horn Formation | A keratinizing squamous cell carcinoma characterized by the presence of horn pearls. Representative examples include squamous cell carcinomas of the face presenting as a cutaneous horn. | MONDO:0005056 | +| MONDO:0857786 | squamous cell carcinoma, clear cell type | NCIT:C65180 | MONDO:equivalentTo | Squamous Cell Carcinoma, Clear Cell Type | A squamous cell carcinoma characterized by the presence of malignant cells with clear cytoplasm. | MONDO:0005096 | +| MONDO:0857787 | non-invasive papillary transitional cell carcinoma | NCIT:C65181 | MONDO:equivalentTo | Non-Invasive Papillary Transitional Cell Carcinoma | A transitional cell carcinoma characterized by a papillary growth pattern and lack of stromal invasion. | MONDO:0006350 | +| MONDO:0857789 | malignant pancreatic insulinoma | NCIT:C65186 | MONDO:equivalentTo | Malignant Pancreatic Insulinoma | An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. It displays vascular invasion and metastasizes to other anatomic sites. | MONDO:0024677 | +| MONDO:0857790 | malignant pancreatic glucagonoma | NCIT:C65187 | MONDO:equivalentTo | Malignant Pancreatic Glucagonoma | A glucagon-producing neuroendocrine tumor arising from the alpha cells of the pancreas. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. It displays vascular invasion and metastasizes to other anatomic sites. | MONDO:0019959 | +| MONDO:0857791 | malignant gastrinoma | NCIT:C65188 | MONDO:equivalentTo | Malignant Gastrinoma | A gastrin-producing neuroendocrine tumor. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. It displays vascular invasion and metastasizes to other anatomic sites. | MONDO:0003523 | +| MONDO:0857792 | malignant vipoma | NCIT:C65189 | MONDO:equivalentTo | Malignant Vipoma | An aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. It displays vascular invasion and metastasizes to other anatomic sites. | MONDO:0019960 | +| MONDO:0857793 | malignant somatostatinoma | NCIT:C65190 | MONDO:equivalentTo | Malignant Somatostatinoma | A neuroendocrine tumor arising from delta cells which produce somatostatin. It displays vascular invasion and metastasizes to other anatomic sites. | MONDO:0006976 | +| MONDO:0857794 | flat adenoma | NCIT:C65193 | MONDO:equivalentTo | Flat Adenoma | An adenoma of the gastrointestinal tract mucosa which grossly and morphologically does not appear as an elevated or polypoid lesion. | MONDO:0006180 | +| MONDO:0857795 | glandular papillomatosis | NCIT:C65198 | MONDO:equivalentTo | Glandular Papillomatosis | Multifocal neoplastic proliferations of the glandular epithelium displaying a papillary pattern. | MONDO:0021098 | +| MONDO:0857796 | thyroid gland follicular carcinoma, minimally invasive | NCIT:C65200 | MONDO:equivalentTo | Thyroid Gland Follicular Carcinoma, Minimally Invasive | A follicular carcinoma of the thyroid gland showing capsular invasion only. | MONDO:0040677|MONDO:0005034 | +| MONDO:0857797 | papillary mucinous cystadenocarcinoma | NCIT:C65204 | MONDO:equivalentTo | Papillary Mucinous Cystadenocarcinoma | An invasive adenocarcinoma characterized by cystic changes, papillary growth pattern, and the presence of malignant glandular cells which contain intracytoplasmic mucin. | MONDO:0005074|MONDO:0005858 | +| MONDO:0857798 | malignant testicular sertoli cell tumor | NCIT:C6523 | MONDO:equivalentTo | Malignant Testicular Sertoli Cell Tumor | A Sertoli cell tumor that arises from the testis and is characterized by nuclear pleomorphism, increased mitotic activity and necrotic changes. Metastases may be present at diagnosis. | MONDO:0020808|MONDO:0000378 | +| MONDO:0857799 | malignant pericytic neoplasm | NCIT:C6530 | MONDO:equivalentTo | Malignant Pericytic Neoplasm | A malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels, and cytologic atypia. | MONDO:0002604|MONDO:0024637 | +| MONDO:0857802 | ancient schwannoma | NCIT:C6556 | MONDO:equivalentTo | Ancient Schwannoma | A schwannoma that is characterized by degenerative changes such as hyalinization, hemorrhage, calcification and cystic change. | MONDO:0002546 | +| MONDO:0857803 | extraskeletal cartilaginous and osseous neoplasm | NCIT:C6570 | MONDO:equivalentTo | Extraskeletal Cartilaginous and Osseous Neoplasm | A benign or malignant mesenchymal neoplasm with cartilaginous or osseous differentiation arising from the soft tissues exclusively. Representative examples include chondroma, osteoma, and osteosarcoma. | MONDO:0006424 | +| MONDO:0857804 | intramuscular myxoma | NCIT:C6579 | MONDO:equivalentTo | Intramuscular Myxoma | A benign, painless soft tissue tumor that arises in a muscle, usually in a large muscle of the thigh, buttocks, shoulder, or upper arm. It is associated with point mutations of the GNAS gene. Grossly it is characterized by a gelatinous and lobulated cut surface. Morphologically it is composed of uniform spindled and stellate-shaped cells without atypia. The cells are separated by myxoid stroma. No recurrences have been reported. | MONDO:0044784 | +| MONDO:0857805 | juxta-articular myxoma | NCIT:C6580 | MONDO:equivalentTo | Juxta-Articular Myxoma | A rare myxoma that usually arises in an area close to a large joint. Morphologically it resembles a cellular myxoma. In contrast to an intramuscular myxoma, it is not associated with mutations of the GNAS gene. | MONDO:0044784 | +| MONDO:0857806 | peripheral neuroblastoma | NCIT:C6591 | MONDO:equivalentTo | Peripheral Neuroblastoma | A neuroblastoma arising from the peripheral nervous system. | MONDO:0002749|MONDO:0021089 | +| MONDO:0857807 | benign mediastinal soft tissue neoplasm | NCIT:C6593 | MONDO:equivalentTo | Benign Mediastinal Soft Tissue Neoplasm | A mesenchymal neoplasm that arises from the mediastinum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include lipoma, leiomyoma, and rhabdomyoma. | MONDO:0021521|MONDO:0003512|MONDO:0044335 | +| MONDO:0857810 | soft tissue fibrosarcoma | NCIT:C6605 | MONDO:equivalentTo | Soft Tissue Fibrosarcoma | A usually aggressive malignant neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO:0018078|MONDO:0005164 | +| MONDO:0857811 | mediastinal malignant peripheral nerve sheath tumor | NCIT:C6626 | MONDO:equivalentTo | Mediastinal Malignant Peripheral Nerve Sheath Tumor | A malignant peripheral nerve sheath tumor that arises from the mediastinum. It may be associated with neurofibromatosis. It often spreads to the lungs or pleura. | MONDO:0003098|MONDO:0002852|MONDO:0017827 | +| MONDO:0857812 | mediastinal ganglioneuroma | NCIT:C6632 | MONDO:equivalentTo | Mediastinal Ganglioneuroma | A ganglioneuroma arising from the mediastinum. | MONDO:0021521|MONDO:0003098|MONDO:0005033 | +| MONDO:0857813 | mediastinal hodgkin lymphoma | NCIT:C6634 | MONDO:equivalentTo | Mediastinal Hodgkin Lymphoma | A Hodgkin lymphoma that arises from the mediastinum. It usually involves mediastinal lymph nodes and/or the thymus. Signs and symptoms include fever, weight loss, fatigue, and night sweats. | MONDO:0004021|MONDO:0004952 | +| MONDO:0857814 | stage 1 neuroblastoma | NCIT:C6638 | MONDO:equivalentTo | Stage 1 Neuroblastoma | Localized tumor with complete gross excision, with or without microscopic residual disease; representative ipsilateral lymph nodes negative for tumor microscopically. (cancer.gov) | MONDO:0005072 | +| MONDO:0857815 | stage 2 neuroblastoma | NCIT:C6639 | MONDO:equivalentTo | Stage 2 Neuroblastoma | Stage 2 includes stage 2A and stage 2B. Stage 2A: Localized tumor with incomplete gross excision; representative ipsilateral nonadherent lymph nodes negative for tumor microscopically. Stage 2B: Localized tumor with or without complete gross excision, with ipsilateral nonadherent lymph nodes positive for tumor. Enlarged contralateral lymph nodes must be negative microscopically. (cancer.gov) | MONDO:0005072 | +| MONDO:0857816 | stage 3 neuroblastoma | NCIT:C6640 | MONDO:equivalentTo | Stage 3 Neuroblastoma | Unresectable unilateral tumor infiltrating across the midline, with or without regional lymph node involvement; or localized unilateral tumor with contralateral regional lymph node involvement; or midline tumor with bilateral extension by infiltration (unresectable) or by lymph node involvement. The midline is defined as the vertebral column. Tumors originating on one side and crossing the midline must infiltrate to or beyond the opposite side of the vertebral column. (cancer.gov) | MONDO:0005072 | +| MONDO:0857817 | stage 4 neuroblastoma | NCIT:C6641 | MONDO:equivalentTo | Stage 4 Neuroblastoma | Any primary tumor with dissemination to distant lymph nodes, bone, bone marrow, liver, skin, and/or other organs, except as defined for stage 4S. (cancer.gov) | MONDO:0005072 | +| MONDO:0857821 | breast atypical medullary carcinoma | NCIT:C66719 | MONDO:equivalentTo | Breast Atypical Medullary Carcinoma | An invasive ductal breast carcinoma characterized by the presence of a predominantly syncytial architectural pattern. It may have some, but not all the strictly defined additional morphologic criteria which are necessary for the diagnosis of medullary breast carcinoma (presence of a diffuse lymphoplasmacytic infiltrate, neoplastic round cells with abundant cytoplasm and vesicular nuclei, complete histological circumscription, and absence of glandular or tubular structures). It does not have the relatively favorable outcome that characterizes medullary breast carcinoma. | MONDO:0004953 | +| MONDO:0857822 | adenocarcinoma with neuroendocrine differentiation | NCIT:C66745 | MONDO:equivalentTo | Adenocarcinoma with Neuroendocrine Differentiation | An invasive adenocarcinoma characterized by the presence of focal or extensive neuroendocrine differentiation. | MONDO:0004970 | +| MONDO:0857823 | testicular sex cord-stromal tumor, not otherwise specified | NCIT:C66748 | MONDO:equivalentTo | Testicular Sex Cord-Stromal Tumor, Not Otherwise Specified | A sex cord-stromal tumor of the testis in which the neoplastic cells do not show specific differentiation. | MONDO:0003125 | +| MONDO:0857824 | ovarian stromal tumor with minor sex cord elements | NCIT:C66749 | MONDO:equivalentTo | Ovarian Stromal Tumor with Minor Sex Cord Elements | A rare, benign sex cord-stromal tumor of the ovary characterized by the presence of a fibrothecomatous stroma and scattered sex cord elements. Although it is usually hormonally inactive, cases associated with endometrial hyperplasia or adenocarcinoma have been reported. | MONDO:0021657 | +| MONDO:0857825 | adult granulosa cell tumor | NCIT:C66750 | MONDO:equivalentTo | Adult Granulosa Cell Tumor | A low-grade malignant sex cord-stromal tumor occurring in the ovary and rarely in the testis. It is composed of granulosa cells in an often fibrothecomatous stroma. The neoplastic cells may form various patterns including the microfollicular, which is characterized by the presence of Call-Exner bodies, macrofollicular, insular, trabecular, and diffuse pattern. In females, it affects middle aged to post-menopausal women. Signs and symptoms include abdominal mass, hemoperitoneum, and ascites. Estrogenic and rarely androgenic manifestations may be present. The vast majority of cases present as stage I tumors; however, all tumors have a potential for aggressive clinical course. In males, it is reported in the age range of 16-76 years and the average age at presentation is 44 years. A minority of patients have gynecomastia. Metastases have been reported in a minority of patients. | MONDO:0006036 | +| MONDO:0857826 | melanoma in precancerous melanosis | NCIT:C66753 | MONDO:equivalentTo | Melanoma in Precancerous Melanosis | A melanoma arising from an atypical intraepithelial melanocytic hyperplasia. | MONDO:0005012 | +| MONDO:0857827 | small congenital melanocytic nevus | NCIT:C66754 | MONDO:equivalentTo | Small Congenital Melanocytic Nevus | A congenital melanocytic nevus of small size, with a diameter smaller than 15 mm. It presents as a macular, papular or plaque-like lesion. | MONDO:0044792 | +| MONDO:0857828 | proliferative nodules in congenital melanocytic nevus | NCIT:C66755 | MONDO:equivalentTo | Proliferative Nodules in Congenital Melanocytic Nevus | A benign proliferation of epithelioid or spindled melanocytes usually in the upper or mid dermis in a background of congenital melanocytic nevus. The congenital melanocytic nevus is usually of the deep type, involving the dermis and extending into the subcutaneous tissue. It presents as a dark plaque or nodule above a giant congenital melanocytic nevus. | MONDO:0044792 | +| MONDO:0857829 | periosteal fibroma | NCIT:C66761 | MONDO:equivalentTo | Periosteal Fibroma | A benign fibrous neoplasm arising from the periosteal connective tissue that surrounds a bone. | MONDO:0000631|MONDO:0005167 | +| MONDO:0857830 | fascial fibroma | NCIT:C66764 | MONDO:equivalentTo | Fascial Fibroma | A benign fibrous tumor arising from the fascial connective tissue. | MONDO:0005167 | +| MONDO:0857831 | fascial fibrosarcoma | NCIT:C66765 | MONDO:equivalentTo | Fascial Fibrosarcoma | A malignant fibroblastic neoplasm arising from the fascial connective tissue. | MONDO:0005164 | +| MONDO:0857834 | choriocarcinoma combined with other germ cell elements | NCIT:C66777 | MONDO:equivalentTo | Choriocarcinoma Combined with Other Germ Cell Elements | A malignant mixed germ cell tumor characterized by the presence of a choriocarcinomatous component admixed with another germ cell component (e.g. embryonal carcinoma, teratoma, or seminoma). | MONDO:0015864|MONDO:0005853 | +| MONDO:0857835 | hemolymphangioma | NCIT:C66792 | MONDO:equivalentTo | Hemolymphangioma | A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis. | MONDO:0002013 | +| MONDO:0857836 | ganglioneuromatosis | NCIT:C66804 | MONDO:equivalentTo | Ganglioneuromatosis | Extensive and diffuse infiltration of tissues by ganglioneuroma. | MONDO:0005033 | +| MONDO:0857837 | ciliary body benign medulloepithelioma | NCIT:C66807 | MONDO:equivalentTo | Ciliary Body Benign Medulloepithelioma | A rare, unilateral, benign embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium. | MONDO:0021486|MONDO:0017050 | +| MONDO:0857838 | ciliary body teratoid medulloepithelioma | NCIT:C66810 | MONDO:equivalentTo | Ciliary Body Teratoid Medulloepithelioma | A rare, unilateral, benign or malignant embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium and contains heterologous elements, particularly cartilage, skeletal muscle, and brain tissue. | MONDO:0017050 | +| MONDO:0857839 | retinocytoma | NCIT:C66812 | MONDO:equivalentTo | Retinocytoma | A rare, unilateral or bilateral benign neoplasm that arises from the retina. There is an increased risk of malignant transformation to retinoblastoma; therefore, patients with a diagnosis of retinocytoma should be closely observed. | MONDO:0021453|MONDO:0024341 | +| MONDO:0857840 | differentiated retinoblastoma | NCIT:C66813 | MONDO:equivalentTo | Differentiated Retinoblastoma | A retinoblastoma with well differentiated features. It often produces Flexner-Wintersteiner rosettes or Homer-Wright rosettes. In some cases the tumor cells form fleurettes. | MONDO:0008380 | +| MONDO:0857841 | undifferentiated retinoblastoma | NCIT:C66814 | MONDO:equivalentTo | Undifferentiated Retinoblastoma | A retinoblastoma composed of small, undifferentiated cells. It is often associated with necrotic changes. | MONDO:0008380 | +| MONDO:0857842 | diffuse retinoblastoma | NCIT:C66815 | MONDO:equivalentTo | Diffuse Retinoblastoma | A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy. | MONDO:0008380 | +| MONDO:0857844 | melanotic neurofibroma | NCIT:C66841 | MONDO:equivalentTo | Melanotic Neurofibroma | A rare neurofibroma characterized by the presence of melanin-laden cells and the absence of atypia. | MONDO:0016755 | +| MONDO:0857846 | testicular mixed sex cord-stromal tumor | NCIT:C66991 | MONDO:equivalentTo | Testicular Mixed Sex Cord-Stromal Tumor | A sex cord-stromal tumor of the testis which may contain any combination of cell types, for example Sertoli cells, Leydig cells, and granulosa cells. Symptoms include testicular swelling and gynecomastia. | MONDO:0003125 | +| MONDO:0857847 | pyriform fossa carcinoma | NCIT:C6700 | MONDO:equivalentTo | Pyriform Fossa Carcinoma | A carcinoma that arises from the pyriform sinus. Patients usually present with advanced stage disease and the prognosis is poor. | MONDO:0005216 | +| MONDO:0857848 | ovarian serous adenocarcinofibroma | NCIT:C67092 | MONDO:equivalentTo | Ovarian Serous Adenocarcinofibroma | A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns. | MONDO:0024885|MONDO:0002991 | +| MONDO:0857849 | sternal chondromyxoid fibroma | NCIT:C6714 | MONDO:equivalentTo | Sternal Chondromyxoid Fibroma | An uncommon benign cartilaginous neoplasm arising from the sternum. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. | MONDO:0021456|MONDO:0018447 | +| MONDO:0857850 | olfactory neurogenic tumor | NCIT:C67155 | MONDO:equivalentTo | Olfactory Neurogenic Tumor | A rare, benign (olfactory neurocytoma) or malignant (olfactory neuroblastoma) neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity. | MONDO:0002722 | +| MONDO:0857852 | nodular sclerosis classic hodgkin lymphoma, cellular phase | NCIT:C67171 | MONDO:equivalentTo | Nodular Sclerosis Classic Hodgkin Lymphoma, Cellular Phase | A nodular sclerosis Hodgkin lymphoma characterized by the presence of lacunar cells, nodular growth, and the absence of fibrosis. | MONDO:0004665 | +| MONDO:0857853 | sternal intraosseous schwannoma | NCIT:C6718 | MONDO:equivalentTo | Sternal Intraosseous Schwannoma | A rare schwannoma that arises from the sternum. | MONDO:0021456|MONDO:0004820 | +| MONDO:0857854 | peripheral primitive neuroectodermal tumor of the kidney | NCIT:C67214 | MONDO:equivalentTo | Peripheral Primitive Neuroectodermal Tumor of the Kidney | A small round cell tumor with neural differentiation arising from the kidney. | MONDO:0018271|MONDO:0002367 | +| MONDO:0857855 | chest wall hodgkin lymphoma | NCIT:C6723 | MONDO:equivalentTo | Chest Wall Hodgkin Lymphoma | A Hodgkin lymphoma that affects the structures of the chest wall. | MONDO:0003985|MONDO:0004952 | +| MONDO:0857858 | benign glomus tumor | NCIT:C6748 | MONDO:equivalentTo | Benign Glomus Tumor | A glomus tumor of small size characterized by the absence of nuclear atypia and mitotic activity. | MONDO:0003342|MONDO:0018327 | +| MONDO:0857859 | malignant sex cord-stromal tumor | NCIT:C67561 | MONDO:equivalentTo | Malignant Sex Cord-Stromal Tumor | A gonadal sex cord-stromal tumor with malignant characteristics. It includes the poorly differentiated ovarian Sertoli-Leydig cell tumor, malignant ovarian granulosa cell tumor, malignant ovarian steroid cell tumor, and malignant ovarian thecoma. | MONDO:0002149|MONDO:0006055 | +| MONDO:0857860 | myxoid leiomyoma | NCIT:C67563 | MONDO:equivalentTo | Myxoid Leiomyoma | A leiomyoma characterized by the presence of abundant myxoid matrix. | MONDO:0001572 | +| MONDO:0857862 | stromal neoplasm | NCIT:C6781 | MONDO:equivalentTo | Stromal Neoplasm | A benign or malignant mesenchymal neoplasm composed of stromal cells. Representative examples include gastrointestinal stromal tumor, endometrial stromal sarcoma, and prostate stromal sarcoma. | MONDO:0002616|MONDO:0006424 | +| MONDO:0857864 | benign apocrine neoplasm | NCIT:C6799 | MONDO:equivalentTo | Benign Apocrine Neoplasm | An epithelial neoplasm that arises from the apocrine glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021489|MONDO:0003686 | +| MONDO:0857866 | benign external ear neoplasm | NCIT:C6807 | MONDO:equivalentTo | Benign External Ear Neoplasm | A neoplasm that arises from the external ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include ceruminous adenoma, polyp, and lipoma. | MONDO:0021235|MONDO:0021474 | +| MONDO:0857867 | prostate ductal adenocarcinoma | NCIT:C6813 | MONDO:equivalentTo | Prostate Ductal Adenocarcinoma | A usually aggressive invasive adenocarcinoma of the prostate gland composed of large glands containing tall columnar cells. The columnar cells have abundant cytoplasm and are reminiscent of endometrial carcinoma. This type of adenocarcinoma has a tendency to metastasize to the lung and penis. | MONDO:0005082 | +| MONDO:0857872 | kadish stage a olfactory neuroblastoma | NCIT:C6853 | MONDO:equivalentTo | Kadish Stage A Olfactory Neuroblastoma | An olfactory neuroblastoma that is confined to the nasal cavity | MONDO:0006329 | +| MONDO:0857873 | kadish stage b olfactory neuroblastoma | NCIT:C6854 | MONDO:equivalentTo | Kadish Stage B Olfactory Neuroblastoma | An olfactory neuroblastoma that involves the nasal cavity and paranasal sinuses. | MONDO:0006329 | +| MONDO:0857874 | oropharyngeal undifferentiated carcinoma | NCIT:C68610 | MONDO:equivalentTo | Oropharyngeal Undifferentiated Carcinoma | A non-keratinizing carcinoma arising from the oropharynx. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate. | MONDO:0003572|MONDO:0044704 | +| MONDO:0857876 | childhood extracranial germ cell tumor | NCIT:C68627 | MONDO:equivalentTo | Childhood Extracranial Germ Cell Tumor | A childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain. | MONDO:0003751 | +| MONDO:0857879 | childhood extragonadal malignant germ cell tumor | NCIT:C68632 | MONDO:equivalentTo | Childhood Extragonadal Malignant Germ Cell Tumor | A malignant germ cell tumor in children arising from an anatomic site other than the testis or ovary. | MONDO:0003113|MONDO:0004479 | +| MONDO:0857881 | adrenal cortical low grade carcinoma | NCIT:C68635 | MONDO:equivalentTo | Adrenal Cortical Low Grade Carcinoma | A carcinoma that arises from the adrenal cortex and is characterized by the presence of twenty or less mitoses per ten square millimeters. | MONDO:0006639 | +| MONDO:0857882 | adrenal cortical sarcomatoid carcinoma | NCIT:C68644 | MONDO:equivalentTo | Adrenal Cortical Sarcomatoid Carcinoma | A carcinoma that arises from the adrenal cortex and is characterized by the partial or complete loss of adrenal cortical differentiation. | MONDO:0006406|MONDO:0006639 | +| MONDO:0857884 | hodgkin lymphoma by clinical course | NCIT:C68666 | MONDO:equivalentTo | Hodgkin Lymphoma by Clinical Course | | MONDO:0004952 | +| MONDO:0857892 | adult gliosarcoma | NCIT:C68701 | MONDO:equivalentTo | Adult Gliosarcoma | A gliosarcoma occurring in adults. | MONDO:0020690|MONDO:0016681 | +| MONDO:0857893 | adult giant cell glioblastoma | NCIT:C68702 | MONDO:equivalentTo | Adult Giant Cell Glioblastoma | A giant cell glioblastoma occurring in adults. | MONDO:0016682|MONDO:0020690 | +| MONDO:0857895 | pancreatic mixed acinar carcinoma-neuroendocrine carcinoma | NCIT:C6878 | MONDO:equivalentTo | Pancreatic Mixed Acinar Carcinoma-Neuroendocrine Carcinoma | A carcinoma that arises from the pancreas and is composed of acinar carcinoma and neuroendocrine carcinoma components in both the primary tumor and the metastatic sites. | MONDO:0044727 | +| MONDO:0857896 | cellular fibroma | NCIT:C6892 | MONDO:equivalentTo | Cellular Fibroma | A morphologic variant of fibroma characterized by increased cellularity. | MONDO:0005167 | +| MONDO:0857897 | malignant solitary fibrous tumor | NCIT:C6894 | MONDO:equivalentTo | Malignant Solitary Fibrous Tumor | A malignant neoplasm of probable fibroblastic derivation. It is characterized by the presence of atypical round to spindle-shaped cells, increased cellularity, necrotic change and high mitotic activity. | MONDO:0016238|MONDO:0004992 | +| MONDO:0857899 | atypical burkitt/burkitt-like lymphoma | NCIT:C6917 | MONDO:equivalentTo | Atypical Burkitt/Burkitt-Like Lymphoma | A morphologic variant of Burkitt lymphoma characterized by marked nuclear pleomorphism, abundant apoptotic debris, and the presence of tangible body macrophages. | MONDO:0007243 | +| MONDO:0857900 | acute myeloid leukemia with a variant kmt2a rearrangement | NCIT:C6924 | MONDO:equivalentTo | Acute Myeloid Leukemia with a Variant KMT2A Rearrangement | A term referring to acute myeloid leukemias with rearrangement of the KMT2A gene that results in translocations with various genes other than the MLLT3 (AF9) gene. | MONDO:0100404 | +| MONDO:0857901 | malignant ovarian thecoma | NCIT:C6929 | MONDO:equivalentTo | Malignant Ovarian Thecoma | A thecoma of the ovary which may metastasize to another anatomic site. It is usually characterized by nuclear atypia and mitotic activity. Malignant thecomas are rare. | MONDO:0018172|MONDO:0037253 | +| MONDO:0857902 | solitary plasmacytoma | NCIT:C6932 | MONDO:equivalentTo | Solitary Plasmacytoma | A localized malignant neoplasm that arises in the bony skeleton or soft tissue. It is composed of clonal (malignant) plasma cells forming a tumor mass. | MONDO:0005615 | +| MONDO:0857903 | deep (aggressive) angiomyxoma | NCIT:C6936 | MONDO:equivalentTo | Deep (Aggressive) Angiomyxoma | A locally infiltrating, non-metastasizing angiomyxoma arising from the pelviperineal region. It may recur following resection | MONDO:0006086 | +| MONDO:0857904 | cardiac fibroma | NCIT:C6947 | MONDO:equivalentTo | Cardiac Fibroma | A rare benign heart neoplasm usually occurring in young children. It is characterized by the presence of bland spindle cells and collagenous stroma formation. Clinical presentation may include cardiac arrhythmia, cyanosis, heart failure or sudden death. | MONDO:0005167|MONDO:0021450 | +| MONDO:0857906 | anaplastic kidney wilms tumor | NCIT:C6952 | MONDO:equivalentTo | Anaplastic Kidney Wilms Tumor | Wilms tumor of the kidney characterized by the presence of nuclear anaplasia. Anaplasia is defined by the presence of all of the following: multipolar polyploid mitotic figures, marked nuclear enlargement, and hyperchromasia. When anaplasia is diffuse, it is associated with an unfavorable clinical outcome. | MONDO:0020633|MONDO:0019004 | +| MONDO:0857907 | simple endometrial hyperplasia with atypia | NCIT:C6991 | MONDO:equivalentTo | Simple Endometrial Hyperplasia with Atypia | A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present. | MONDO:0006410 | +| MONDO:0857910 | central nervous system kaposi sarcoma | NCIT:C7006 | MONDO:equivalentTo | Central Nervous System Kaposi Sarcoma | A Kaposi sarcoma arising from the brain, spinal cord, or meninges. | MONDO:0002217|MONDO:0005055 | +| MONDO:0857913 | central nervous system inflammatory myofibroblastic tumor | NCIT:C7020 | MONDO:equivalentTo | Central Nervous System Inflammatory Myofibroblastic Tumor | A multinodular intermediate fibroblastic neoplasm affecting the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. | MONDO:0015798|MONDO:0003244 | +| MONDO:0857918 | meningioma by site | NCIT:C7051 | MONDO:equivalentTo | Meningioma by Site | | MONDO:0016642 | +| MONDO:0857919 | mature b-cell non-hodgkin lymphoma | NCIT:C7056 | MONDO:equivalentTo | Mature B-Cell Non-Hodgkin Lymphoma | A non-Hodgkin lymphoma that originates from mature B lymphocytes. Representative examples include diffuse large B-cell lymphoma, follicular lymphoma, marginal zone lymphoma, mantle cell lymphoma, and small lymphocytic lymphoma. | MONDO:0004949|MONDO:0015759 | +| MONDO:0857921 | neoplasm by special category | NCIT:C7062 | MONDO:equivalentTo | Neoplasm by Special Category | A neoplasm defined by its unique characteristic as they apply to clinical presentation and course, morphologic patterns, frequency, and/or age distribution. | MONDO:0005070 | +| MONDO:0857925 | megakaryocytic neoplasm | NCIT:C7066 | MONDO:equivalentTo | Megakaryocytic Neoplasm | A neoplasm affecting cells of the megakaryocytic lineage. | MONDO:0005170|MONDO:0021138 | +| MONDO:0857926 | prostate cancer by whitmore-jewett stage | NCIT:C7079 | MONDO:equivalentTo | Prostate Cancer by Whitmore-Jewett Stage | A term that refers to the staging of prostate carcinoma according to the Whitmore-Jewett staging system. | MONDO:0005159 | +| MONDO:0857931 | metastatic non-cutaneous melanoma | NCIT:C7092 | MONDO:equivalentTo | Metastatic Non-Cutaneous Melanoma | A non-cutaneous melanoma that has spread from its original site of growth to another anatomic site. | MONDO:0005191|MONDO:0006320 | +| MONDO:0857935 | teratoid hepatoblastoma | NCIT:C7098 | MONDO:equivalentTo | Teratoid Hepatoblastoma | A mixed epithelial and mesenchymal hepatoblastoma characterized by the presence of heterologous elements. The latter include neuroectoderm, endoderm, or melanin-holding cells. Muscle, cartilage and osteoid may or may not be present. | MONDO:0003650 | +| MONDO:0857937 | adult pilocytic astrocytoma | NCIT:C71016 | MONDO:equivalentTo | Adult Pilocytic Astrocytoma | A pilocytic astrocytoma occurring in adults. | MONDO:0002503|MONDO:0016691 | +| MONDO:0857940 | liver non-epithelial neoplasm | NCIT:C7107 | MONDO:equivalentTo | Liver Non-Epithelial Neoplasm | A benign or malignant non-epithelial neoplasm that affects the liver. | MONDO:0024477 | +| MONDO:0857943 | stage i liver cancer | NCIT:C7116 | MONDO:equivalentTo | Stage I Liver Cancer | Stage I carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0018531 | +| MONDO:0857944 | stage ii liver cancer | NCIT:C7117 | MONDO:equivalentTo | Stage II Liver Cancer | Stage II carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0018531 | +| MONDO:0857945 | stage iii liver cancer | NCIT:C7118 | MONDO:equivalentTo | Stage III Liver Cancer | Stage III carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0018531 | +| MONDO:0857946 | stage iv liver cancer | NCIT:C7121 | MONDO:equivalentTo | Stage IV Liver Cancer | Stage IV carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0018531 | +| MONDO:0857947 | intrahepatic bile duct microcystic adenoma | NCIT:C7127 | MONDO:equivalentTo | Intrahepatic Bile Duct Microcystic Adenoma | An adenoma that arises from the intrahepatic bile ducts and it is characterized by the presence of microcystic changes. | MONDO:0003444|MONDO:0003435 | +| MONDO:0857948 | gallbladder benign non-epithelial neoplasm | NCIT:C7129 | MONDO:equivalentTo | Gallbladder Benign Non-Epithelial Neoplasm | A non-epithelial neoplasm that arises from the gallbladder and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include leiomyoma, lipoma, and neurofibroma. | MONDO:0021503 | +| MONDO:0857950 | childhood grade 2 meningioma | NCIT:C71301 | MONDO:equivalentTo | Childhood Grade 2 Meningioma | A grade II meningioma that occurs during childhood. | MONDO:0045056|MONDO:0003057 | +| MONDO:0857952 | ovarian sertoli cell tumor | NCIT:C7133 | MONDO:equivalentTo | Ovarian Sertoli Cell Tumor | A rare, typically benign ovarian neoplasm composed of Sertoli cells. Patients may present with pseudoprecocity, menometrorrhagia, amenorrhea, hirsutism, and hoarseness. Rarely it may invade the ovarian stroma and extend beyond the ovary. | MONDO:0002696|MONDO:0020807 | +| MONDO:0857961 | benign fibroblastic neoplasm | NCIT:C7147 | MONDO:equivalentTo | Benign Fibroblastic Neoplasm | A benign mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts without malignant characteristics. | MONDO:0044335|MONDO:0006209 | +| MONDO:0857962 | soft tissue tumor of uncertain differentiation | NCIT:C7148 | MONDO:equivalentTo | Soft Tissue Tumor of Uncertain Differentiation | A benign,intermediate, or malignant soft tissue neoplasm in which the line of differentiation is uncertain. Representative examples include neoplasm with perivascular epithelioid cell differentiation, alveolar soft part sarcoma, desmoplastic small round cell tumor, epithelioid sarcoma, extraskeletal myxoid chondrosarcoma, and synovial sarcoma. | MONDO:0006424 | +| MONDO:0857963 | monoclonal immunoglobulin deposition disease | NCIT:C7151 | MONDO:equivalentTo | Monoclonal Immunoglobulin Deposition Disease | A mature B-cell neoplasm characterized by the deposition of immunoglobulin in tissues, resulting in impaired organ function. It includes the following entities: primary amyloidosis, heavy chain deposition disease, and light chain deposition disease. | MONDO:0004949 | +| MONDO:0857964 | erythroleukemia | NCIT:C7152 | MONDO:equivalentTo | Erythroleukemia | Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. | MONDO:0017858 | +| MONDO:0857965 | primary central chondrosarcoma | NCIT:C7155 | MONDO:equivalentTo | Primary Central Chondrosarcoma | A chondrosarcoma arising from the central portion of bone without a benign precursor. | MONDO:0008977|MONDO:0021054 | +| MONDO:0857966 | benign dermal neoplasm | NCIT:C7158 | MONDO:equivalentTo | Benign Dermal Neoplasm | A neoplasm that arises from the dermis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0002300|MONDO:0021440 | +| MONDO:0857967 | grade 1 nodular sclerosis classic hodgkin lymphoma | NCIT:C7165 | MONDO:equivalentTo | Grade 1 Nodular Sclerosis Classic Hodgkin Lymphoma | Nodular sclerosis Hodgkin lymphoma in which at least 75% of the tumor nodules contain scattered Reed-Sternberg cells. The background cellular infiltrate is lymphocytic, mixed, or fibrohistiocytic. | MONDO:0004665 | +| MONDO:0857968 | grade 2 nodular sclerosis classic hodgkin lymphoma | NCIT:C7166 | MONDO:equivalentTo | Grade 2 Nodular Sclerosis Classic Hodgkin Lymphoma | Nodular sclerosis Hodgkin lymphoma in which at least 25% of the tumor nodules contain increased numbers of Reed-Sternberg cells. | MONDO:0004665 | +| MONDO:0857971 | adult diffuse astrocytoma | NCIT:C7174 | MONDO:equivalentTo | Adult Diffuse Astrocytoma | A low grade (WHO grade II) astrocytoma occurring during adulthood. It is characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of neighboring brain structures. | MONDO:0016686|MONDO:0004320 | +| MONDO:0857972 | spindle cell/pleomorphic lipoma | NCIT:C7180 | MONDO:equivalentTo | Spindle Cell/Pleomorphic Lipoma | A benign lipomatous neoplasm characterized by the presence of an admixture of mature adipose tissue and bland spindle cells. The pleomorphic variant contains in addition multinucleated giant cells. It usually arises in the neck and upper trunk in older males. | MONDO:0005106 | +| MONDO:0857973 | classical burkitt lymphoma | NCIT:C7188 | MONDO:equivalentTo | Classical Burkitt Lymphoma | A Burkitt lymphoma characterized by the presence of a uniform malignant lymphocytic infiltrate that is composed of medium-sized cells with round nuclei and multiple basophilic nucleoli, abundant mitotic figures, and a starry-sky pattern due to the presence of multiple tangible body macrophages. | MONDO:0007243 | +| MONDO:0857974 | burkitt lymphoma with plasmacytoid differentiation | NCIT:C7189 | MONDO:equivalentTo | Burkitt Lymphoma with Plasmacytoid Differentiation | Burkitt lymphoma characterized by the presence of malignant cells with eccentric basophilic cytoplasm. The nucleoli of these cells are often single and central. This morphologic variant of Burkitt lymphoma is more often seen in patients with immunodeficiency. | MONDO:0007243 | +| MONDO:0857975 | type b lymphomatoid papulosis | NCIT:C7198 | MONDO:equivalentTo | Type B Lymphomatoid Papulosis | A variant of lymphomatoid papulosis characterized by an epidermotropic infiltrate composed of small atypical cerebriform-like lymphocytes. | MONDO:0020326 | +| MONDO:0857976 | lymphoepithelioid variant peripheral t-cell lymphoma, not otherwise specified | NCIT:C7205 | MONDO:equivalentTo | Lymphoepithelioid Variant Peripheral T-Cell Lymphoma, Not Otherwise Specified | A variant of peripheral T-cell lymphoma, not otherwise specified. It is characterized by the presence of neoplastic small lymphocytes infiltrating the lymph nodes in a diffuse and less frequently interfollicular pattern. There is an associated proliferation of epithelioid histiocytes forming confluent clusters. | MONDO:0004964 | +| MONDO:0857977 | common variant anaplastic large cell lymphoma | NCIT:C7206 | MONDO:equivalentTo | Common Variant Anaplastic Large Cell Lymphoma | An anaplastic large cell lymphoma, characterized by CD30 positive lymphoid cells. | MONDO:0020325 | +| MONDO:0857978 | lymphohistiocytic variant anaplastic large cell lymphoma | NCIT:C7207 | MONDO:equivalentTo | Lymphohistiocytic Variant Anaplastic Large Cell Lymphoma | A histologic variant of anaplastic large cell lymphoma characterized by the presence of a large number of histiocytes admixed with the anaplastic lymphoma cells. | MONDO:0020325 | +| MONDO:0857981 | non-hodgkin lymphoma by clinical course | NCIT:C7215 | MONDO:equivalentTo | Non-Hodgkin Lymphoma by Clinical Course | | MONDO:0018908 | +| MONDO:0857982 | primary cutaneous hodgkin lymphoma | NCIT:C7221 | MONDO:equivalentTo | Primary Cutaneous Hodgkin Lymphoma | Hodgkin lymphoma primarily involving the skin. This diagnosis can only be made when there is no evidence of Hodgkin lymphoma in the lymph nodes or other anatomic sites. Patients usually present with papules or nodular lesions. Morphologically, primary cutaneous Hodgkin lymphoma may resemble lymphomatoid papulosis or anaplastic large cell lymphoma. Immunohistochemical tissue evaluation is essential in establishing the diagnosis. | MONDO:0018898|MONDO:0004952 | +| MONDO:0857984 | blastoid variant mantle cell lymphoma | NCIT:C7229 | MONDO:equivalentTo | Blastoid Variant Mantle Cell Lymphoma | An aggressive mantle cell lymphoma characterized by the presence of neoplastic B-lymphocytes resembling lymphoblasts. | MONDO:0018876 | +| MONDO:0857995 | follicular lymphoma with predominantly diffuse growth pattern | NCIT:C7264 | MONDO:equivalentTo | Follicular Lymphoma with Predominantly Diffuse Growth Pattern | A lymphoma with the morphologic and immunophenotypic features of a follicular lymphoma characterized by the presence of a diffuse growth pattern with only focal and usually small micronodular foci. | MONDO:0018906 | +| MONDO:0857996 | minimally invasive lung mucinous adenocarcinoma | NCIT:C7268 | MONDO:equivalentTo | Minimally Invasive Lung Mucinous Adenocarcinoma | A morphologic variant of minimally invasive lung adenocarcinoma characterized by tall columnar cells and mucin production. | MONDO:0004991 | +| MONDO:0857997 | minimally invasive lung non-mucinous adenocarcinoma | NCIT:C7269 | MONDO:equivalentTo | Minimally Invasive Lung Non-Mucinous Adenocarcinoma | A morphologic variant of minimally invasive lung adenocarcinoma characterized by the presence of Clara cells and/or type II cells. | MONDO:0004991 | +| MONDO:0857998 | ovarian dermoid cyst with secondary tumor | NCIT:C7284 | MONDO:equivalentTo | Ovarian Dermoid Cyst with Secondary Tumor | An adult-type tumor that has derived from an ovarian dermoid cyst. Representative examples include dermoid cyst with secondary carcinoma, dermoid cyst with secondary sarcoma, and dermoid cyst with pituitary-type tumor. | MONDO:0003331 | +| MONDO:0857999 | ovarian granulosa-stromal cell tumor | NCIT:C7287 | MONDO:equivalentTo | Ovarian Granulosa-Stromal Cell Tumor | A group of sex cord-stromal tumors that arise from the ovary. These tumors are characterized by the presence of granulosa cells, stromal cells, and/or theca cells. This group includes granulosa cell tumor and tumors of the thecoma/fibroma group. | MONDO:0021657 | +| MONDO:0858001 | malignant splenic soft tissue neoplasm | NCIT:C7292 | MONDO:equivalentTo | Malignant Splenic Soft Tissue Neoplasm | A malignant mesenchymal neoplasm that arises from the spleen. | MONDO:0005966|MONDO:0024637 | +| MONDO:0858002 | splenic manifestation of t-cell prolymphocytic leukemia | NCIT:C7298 | MONDO:equivalentTo | Splenic Manifestation of T-Cell Prolymphocytic Leukemia | Infiltration and expansion of the white and red pulp of the spleen by T-cell prolymphocytic leukemia. | MONDO:0002966|MONDO:0019468 | +| MONDO:0858003 | splenic manifestation of b-cell prolymphocytic leukemia | NCIT:C7299 | MONDO:equivalentTo | Splenic Manifestation of B-Cell Prolymphocytic Leukemia | Infiltration and expansion of the white and red pulp of the spleen by B-cell prolymphocytic leukemia. | MONDO:0002966|MONDO:0019461 | +| MONDO:0858004 | splenic manifestation of chronic lymphocytic leukemia | NCIT:C7300 | MONDO:equivalentTo | Splenic Manifestation of Chronic Lymphocytic Leukemia | Infiltration of the spleen by chronic lymphocytic leukemia. It primarily involves the white pulp. | MONDO:0004107|MONDO:0004948 | +| MONDO:0858005 | splenic manifestation of t-cell large granular lymphocyte leukemia | NCIT:C7302 | MONDO:equivalentTo | Splenic Manifestation of T-Cell Large Granular Lymphocyte Leukemia | Infiltration and expansion of the red pulp cords and sinusoids of the spleen by T-cell large granular lymphocyte leukemia. The white pulp of the spleen is not involved and is often hyperplastic. | MONDO:0004107|MONDO:0019469 | +| MONDO:0858006 | splenic manifestation of chronic myeloid leukemia, bcr-abl1 positive | NCIT:C7303 | MONDO:equivalentTo | Splenic Manifestation of Chronic Myeloid Leukemia, BCR-ABL1 Positive | Infiltration and expansion of the red pulp and sinusoids of the spleen by chronic myeloid leukemia, BCR-ABL1 positive. | MONDO:0011996|MONDO:0004107 | +| MONDO:0858007 | splenic lymphoplasmacytic lymphoma | NCIT:C7305 | MONDO:equivalentTo | Splenic Lymphoplasmacytic Lymphoma | A lymphoplasmacytic lymphoma occurring in the spleen. | MONDO:0000432 | +| MONDO:0858008 | splenic lymphoblastic lymphoma | NCIT:C7312 | MONDO:equivalentTo | Splenic Lymphoblastic Lymphoma | Lymphoblastic lymphoma that affects the spleen. | MONDO:0000873 | +| MONDO:0858010 | acute monoblastic and monocytic leukemia | NCIT:C7318 | MONDO:equivalentTo | Acute Monoblastic and Monocytic Leukemia | Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features. | MONDO:0015667 | +| MONDO:0858011 | childhood chronic myeloid leukemia, bcr-abl1 positive | NCIT:C7320 | MONDO:equivalentTo | Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive | A chronic myeloid leukemia, BCR-ABL1 positive occurring during childhood. | MONDO:0011996|MONDO:0004355 | +| MONDO:0858012 | ovarian mixed germ cell-sex cord-stromal tumor | NCIT:C7321 | MONDO:equivalentTo | Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor | A neoplasm that arises from the ovary and is characterized by the presence of germ cell and sex cord-stromal tissues that are intimately admixed. If there is no malignant germ cell component present, the clinical course is benign. | MONDO:0021068|MONDO:0002478 | +| MONDO:0858013 | testicular mixed germ cell-sex cord-stromal tumor | NCIT:C7322 | MONDO:equivalentTo | Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor | A tumor that arises from the testis and is characterized by the presence of a neoplastic germ cell component and a neoplastic sex cord-stromal component. | MONDO:0021348|MONDO:0002478 | +| MONDO:0858016 | reproductive endocrine neoplasm | NCIT:C7335 | MONDO:equivalentTo | Reproductive Endocrine Neoplasm | A benign or malignant endocrine neoplasm that arises from the testis or the ovary. | MONDO:0006054|MONDO:0002082|MONDO:0002259 | +| MONDO:0858017 | high grade intraepithelial neoplasia | NCIT:C7348 | MONDO:equivalentTo | High Grade Intraepithelial Neoplasia | A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as grade II (moderate dysplasia) or grade III (severe dysplasia). | MONDO:0024474 | +| MONDO:0858019 | cerebellar glioneuronal and neuronal tumors | NCIT:C7372 | MONDO:equivalentTo | Cerebellar Glioneuronal and Neuronal Tumors | Glioneuronal and neuronal tumors occurring in the cerebellum. | MONDO:0016729|MONDO:0002913 | +| MONDO:0858020 | benign vascular neoplasm | NCIT:C7389 | MONDO:equivalentTo | Benign Vascular Neoplasm | A mesenchymal neoplasm that arises from vascular tissue usually of the skin. It is characterized by the presence of vascular channel formation and endothelial cells. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases. | MONDO:0024296|MONDO:0000654 | +| MONDO:0858021 | malignant vascular neoplasm | NCIT:C7390 | MONDO:equivalentTo | Malignant Vascular Neoplasm | A malignant neoplasm arising from the vascular tissue. It is characterized by vascular channel formation and malignant endothelial cells. | MONDO:0024296|MONDO:0002100 | +| MONDO:0858024 | precancerous condition by site | NCIT:C7422 | MONDO:equivalentTo | Precancerous Condition by Site | | | +| MONDO:0858025 | oral cavity and lip precancerous condition | NCIT:C7425 | MONDO:equivalentTo | Oral Cavity and Lip Precancerous Condition | A premalignant pathologic process that affects the mucosa surface of the oral cavity or lip. It includes leukoplakia, erythroplakia, and smoker's keratosis. | | +| MONDO:0858029 | invasive papillary adenocarcinoma | NCIT:C7438 | MONDO:equivalentTo | Invasive Papillary Adenocarcinoma | A carcinoma that has papillary growth and invades the wall and/or the surrounding tissues of the organ it originates from. | MONDO:0040677|MONDO:0002512 | +| MONDO:0858030 | benign myoepithelioma | NCIT:C7442 | MONDO:equivalentTo | Benign Myoepithelioma | A tumor with myoepithelial differentiation that lacks an infiltrative growth pattern and does not metastasize. | MONDO:0002380|MONDO:0044335 | +| MONDO:0858036 | pure erythroid leukemia | NCIT:C7467 | MONDO:equivalentTo | Pure Erythroid Leukemia | Acute erythroid leukemia characterized by the presence of immature erythroid cells in the bone marrow (at least 80% of the cellular component), without evidence of a significant myeloblastic cell population present. | MONDO:0017858 | +| MONDO:0858037 | anal extramucosal (perianal) adenocarcinoma | NCIT:C7474 | MONDO:equivalentTo | Anal Extramucosal (Perianal) Adenocarcinoma | An anal adenocarcinoma arising from the lining of an anorectal fistulous tract or the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. It usually presents as a submucosal tumor. | MONDO:0002652 | +| MONDO:0858042 | ameloblastic carcinoma-primary type | NCIT:C7493 | MONDO:equivalentTo | Ameloblastic Carcinoma-Primary Type | A rare, aggressive odontogenic malignant tumor that arises usually from the mandible and less frequently from the maxilla. It combines the histologic features of an ameloblastoma and carcinoma. | MONDO:0006079 | +| MONDO:0858043 | ameloblastic carcinoma-secondary type (dedifferentiated) | NCIT:C7496 | MONDO:equivalentTo | Ameloblastic Carcinoma-Secondary Type (Dedifferentiated) | A very rare ameloblastic carcinoma that originates from a pre-existing benign ameloblastoma. | MONDO:0006079|MONDO:0024878 | +| MONDO:0858044 | ameloblastic carcinoma derived from odontogenic cyst | NCIT:C7497 | MONDO:equivalentTo | Ameloblastic Carcinoma Derived From Odontogenic Cyst | A rare, aggressive malignant tumor that originates from an odontogenic cyst in the maxillomandibular region. It combines the histologic features of an ameloblastoma and carcinoma. | MONDO:0006079|MONDO:0024878 | +| MONDO:0858045 | primary intraosseous carcinoma, not otherwise specified, derived from odontogenic cyst | NCIT:C7500 | MONDO:equivalentTo | Primary Intraosseous Carcinoma, Not Otherwise Specified, Derived from Odontogenic Cyst | A rare primary intraosseous carcinoma, not otherwise specified, that arises from the lining of an odontogenic cyst. | MONDO:0006385 | +| MONDO:0858049 | metastatic malignant neoplasm in the breast | NCIT:C7511 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Breast | The spread of a malignant neoplasm to the breast. This may be from a primary breast malignant neoplasm on the opposite side, or from a malignant neoplasm at a distant site. | MONDO:0007254|MONDO:0024880 | +| MONDO:0858050 | malignant esophageal neoplasm by anatomic region | NCIT:C7512 | MONDO:equivalentTo | Malignant Esophageal Neoplasm by Anatomic Region | | MONDO:0007576 | +| MONDO:0858051 | malignant esophageal neoplasm by topographic region | NCIT:C7513 | MONDO:equivalentTo | Malignant Esophageal Neoplasm by Topographic Region | Esophageal segments used primarily in pathology, and distinct from the anatomic segments used for clinical purposes. | MONDO:0007576 | +| MONDO:0858052 | kidney and ureter neoplasm | NCIT:C7514 | MONDO:equivalentTo | Kidney and Ureter Neoplasm | A benign or malignant, primary or metastatic neoplasm affecting the kidney and ureter. | MONDO:0021066 | +| MONDO:0858059 | atypical adenoma | NCIT:C7559 | MONDO:equivalentTo | Atypical Adenoma | An adenoma characterized by increased cellularity and nuclear atypia without evidence of vascular or capsular invasion. A representative example is thyroid gland atypical follicular adenoma. | MONDO:0004972 | +| MONDO:0858060 | eccrine hidrocystoma | NCIT:C7565 | MONDO:equivalentTo | Eccrine Hidrocystoma | A benign sweat gland cystic lesion that arises from the dermis. It is lined by a thin epithelial layer of cells with a slightly eosinophilic cytoplasm. | MONDO:0006787|MONDO:0024247 | +| MONDO:0858066 | regressing nevus | NCIT:C7603 | MONDO:equivalentTo | Regressing Nevus | A nevus associated with focal regression-like changes. | MONDO:0044794 | +| MONDO:0858068 | cerebral non-hodgkin lymphoma | NCIT:C7609 | MONDO:equivalentTo | Cerebral Non-Hodgkin Lymphoma | A non-Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. | MONDO:0003655|MONDO:0044887 | +| MONDO:0858069 | malignant thymoma | NCIT:C7612 | MONDO:equivalentTo | Malignant Thymoma | A thymoma that has an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. Although any morphologic subtype of thymoma may eventually have a malignant clinical course, this term is most often associated with thymoma types B3 and C. | MONDO:0002586|MONDO:0006456 | +| MONDO:0858070 | cutaneous lymphoproliferative disorder | NCIT:C7614 | MONDO:equivalentTo | Cutaneous Lymphoproliferative Disorder | A lymphoproliferative disorder that affects the skin. | | +| MONDO:0858074 | bilateral malignant neoplasm | NCIT:C7627 | MONDO:equivalentTo | Bilateral Malignant Neoplasm | A malignant neoplasm that affects both sides of an organ in a simultaneous or non-simultaneous manner. | MONDO:0004992 | +| MONDO:0858080 | intermediate soft tissue neoplasm | NCIT:C7653 | MONDO:equivalentTo | Intermediate Soft Tissue Neoplasm | A soft tissue neoplasm characterized by an increased risk of local recurrence and/or a low risk of metastasis. | MONDO:0006424 | +| MONDO:0858081 | carcinoma in a polyp | NCIT:C7682 | MONDO:equivalentTo | Carcinoma in a Polyp | Carcinoma arising in a polyp. | MONDO:0004993 | +| MONDO:0858082 | invasive breast ductal carcinoma and lobular carcinoma in situ | NCIT:C7689 | MONDO:equivalentTo | Invasive Breast Ductal Carcinoma and Lobular Carcinoma In Situ | An invasive ductal breast carcinoma associated with an in situ lobular carcinomatous component. | MONDO:0005050 | +| MONDO:0858083 | breast ductal carcinoma in situ and lobular carcinoma | NCIT:C7690 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ and Lobular Carcinoma | A breast carcinoma characterized by the presence of a ductal carcinoma in situ component and an in situ or invasive lobular carcinomatous component. | MONDO:0006306 | +| MONDO:0858086 | adult hodgkin lymphoma | NCIT:C7702 | MONDO:equivalentTo | Adult Hodgkin Lymphoma | Hodgkin lymphoma occurring in adults. | MONDO:0004952|MONDO:0003660 | +| MONDO:0858087 | adult non-hodgkin lymphoma | NCIT:C7704 | MONDO:equivalentTo | Adult Non-Hodgkin Lymphoma | Non-Hodgkin lymphoma occurring in adults. | MONDO:0018908|MONDO:0003660 | +| MONDO:0858088 | childhood non-hodgkin lymphoma | NCIT:C7706 | MONDO:equivalentTo | Childhood Non-Hodgkin Lymphoma | Non-Hodgkin lymphoma occurring in childhood. | MONDO:0003659|MONDO:0018908 | +| MONDO:0858089 | adult soft tissue sarcoma | NCIT:C7707 | MONDO:equivalentTo | Adult Soft Tissue Sarcoma | Soft tissue sarcoma occurring in adults. | MONDO:0018078 | +| MONDO:0858091 | adult liver carcinoma | NCIT:C7711 | MONDO:equivalentTo | Adult Liver Carcinoma | A hepatocellular carcinoma or intrahepatic cholangiocarcinoma that occurs during adulthood. | MONDO:0018531 | +| MONDO:0858092 | childhood hodgkin lymphoma | NCIT:C7714 | MONDO:equivalentTo | Childhood Hodgkin Lymphoma | Hodgkin lymphoma occurring in childhood. | MONDO:0004952|MONDO:0003659 | +| MONDO:0858094 | gingival carcinoma | NCIT:C7721 | MONDO:equivalentTo | Gingival Carcinoma | A carcinoma of the oral cavity that arises from the upper or lower gingiva. | MONDO:0044925|MONDO:0005507 | +| MONDO:0858095 | vaginal clear cell adenocarcinoma | NCIT:C7735 | MONDO:equivalentTo | Vaginal Clear Cell Adenocarcinoma | A morphologic variant of adenocarcinoma that arises from the vagina. It is characterized by the presence of malignant glandular epithelium and clear cells containing glycogen. | MONDO:0020653|MONDO:0005004 | +| MONDO:0858096 | digestive system hemangioma | NCIT:C7741 | MONDO:equivalentTo | Digestive System Hemangioma | A hemangioma arising from any part of the digestive system. | MONDO:0000385|MONDO:0006500 | +| MONDO:0858097 | mucous membrane hemangioma | NCIT:C7744 | MONDO:equivalentTo | Mucous Membrane Hemangioma | A hemangioma arising from the mucous membranes. | MONDO:0006500 | +| MONDO:0858099 | cardiac myxoma | NCIT:C7748 | MONDO:equivalentTo | Cardiac Myxoma | A myxoma arising from the endocardium. | MONDO:0044784|MONDO:0021505 | +| MONDO:0858100 | malignant pericarditis | NCIT:C7753 | MONDO:equivalentTo | Malignant Pericarditis | Pericarditis caused by the infiltration of the pericardium by a malignant neoplasm. The diagnosis is based on the cytological examination of pericardial fluid or the histologic examination of pericardial tissue. | MONDO:0001322|MONDO:0005904 | +| MONDO:0858108 | adult leiomyosarcoma | NCIT:C7810 | MONDO:equivalentTo | Adult Leiomyosarcoma | An aggressive malignant smooth muscle neoplasm, occurring in adults. It is characterized by a proliferation of neoplastic spindle cells. | MONDO:0005058 | +| MONDO:0858116 | regional neuroblastoma | NCIT:C7836 | MONDO:equivalentTo | Regional Neuroblastoma | A neuroblastoma confined to a specific anatomic region without evidence of dissemination. | MONDO:0005072 | +| MONDO:0858119 | stage i kidney wilms tumor | NCIT:C7840 | MONDO:equivalentTo | Stage I Kidney Wilms Tumor | Wilms tumor that is found in one kidney and can be completely removed with surgery. (National Wilms Tumor Study Group Staging System) | MONDO:0019004 | +| MONDO:0858120 | stage ii kidney wilms tumor | NCIT:C7841 | MONDO:equivalentTo | Stage II Kidney Wilms Tumor | Wilms tumor that is found in the kidney and in the fat, soft tissue, or blood vessels near the kidney. It may have spread to the renal sinus. The renal sinus is the part of the kidney where blood and fluid enter and exit the organ. The tumor can be completely removed with surgery. (National Wilms Tumor Study Group Staging System) | MONDO:0019004 | +| MONDO:0858121 | stage iii kidney wilms tumor | NCIT:C7842 | MONDO:equivalentTo | Stage III Kidney Wilms Tumor | Wilms tumor that is found in areas near the kidney and cannot be completely removed with surgery. The tumor may have spread to nearby organs and blood vessels or throughout the abdomen and to nearby lymph nodes. Lymph nodes are tiny, bean-shaped organs that help fight infection. Stage III cancer has not spread outside the abdomen. (National Wilms Tumor Study Group Staging System) | MONDO:0019004 | +| MONDO:0858122 | stage iv kidney wilms tumor | NCIT:C7843 | MONDO:equivalentTo | Stage IV Kidney Wilms Tumor | Wilms tumor that has spread to other more distant organs, such as the lungs, liver, bones, and brain, or to lymph nodes outside the abdomen (National Wilms Tumor Study Group Staging System) | MONDO:0019004 | +| MONDO:0858123 | stage v kidney wilms tumor | NCIT:C7844 | MONDO:equivalentTo | Stage V Kidney Wilms Tumor | Wilms tumor that affects both kidneys at the same time. The tumor in each kidney is staged separately (National Wilms Tumor Study Group Staging System) | MONDO:0019004 | +| MONDO:0858126 | limited stage lung small cell carcinoma | NCIT:C7853 | MONDO:equivalentTo | Limited Stage Lung Small Cell Carcinoma | Small cell lung carcinoma which is confined to one hemi-thorax and the regional lymph nodes. | MONDO:0008433 | +| MONDO:0858151 | grade i lymphomatoid granulomatosis | NCIT:C7931 | MONDO:equivalentTo | Grade I Lymphomatoid Granulomatosis | Lymphomatoid granulomatosis characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. | MONDO:0019466 | +| MONDO:0858152 | grade ii lymphomatoid granulomatosis | NCIT:C7932 | MONDO:equivalentTo | Grade II Lymphomatoid Granulomatosis | Lymphomatoid granulomatosis characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. | MONDO:0019466 | +| MONDO:0858155 | breast ductal carcinoma in situ, high grade | NCIT:C7949 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, High Grade | Breast ductal carcinoma in situ characterized by the presence of neoplastic cells with severe dysplasia and the formation of micropapillary, cribriform, or solid patterns. The nuclei show marked pleomorphism and have prominent nucleoli. Mitotic activity is usually present. There is comedo-type of necrosis present in the ducts. The necrotic debris is surrounded by pleomorphic malignant cells. | MONDO:0005023 | +| MONDO:0858156 | breast paget disease with invasive ductal carcinoma | NCIT:C7951 | MONDO:equivalentTo | Breast Paget Disease with Invasive Ductal Carcinoma | Paget disease involving the skin overlying the mammary gland, accompanied by invasive ductal breast carcinoma. | MONDO:0006256|MONDO:0002648 | +| MONDO:0858161 | childhood acute promyelocytic leukemia with t(15;17)(q24.1;q21.2); pml-rara | NCIT:C7968 | MONDO:equivalentTo | Childhood Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA | An acute promyelocytic leukemia with PML-RARA fusion occurring in children. | MONDO:0012883|MONDO:0004996 | +| MONDO:0858166 | distal bile duct adenocarcinoma | NCIT:C7976 | MONDO:equivalentTo | Distal Bile Duct Adenocarcinoma | An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct. | MONDO:0002665|MONDO:0003707|MONDO:0019087 | +| MONDO:0858169 | carcinoma arising from craniopharyngioma | NCIT:C79949 | MONDO:equivalentTo | Carcinoma Arising from Craniopharyngioma | A rare condition characterized by the development of a carcinoma in a pre-existing craniopharyngioma. | MONDO:0024878 | +| MONDO:0858170 | testicular mixed embryonal carcinoma and yolk sac tumor | NCIT:C8001 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor | A malignant non-seminomatous germ cell tumor arising from the testis. It is characterized by a mixture of embryonal carcinoma and yolk sac morphologic elements. Patients may present with painless or painful testicular swelling. | MONDO:0003403|MONDO:0003120 | +| MONDO:0858171 | testicular mixed yolk sac tumor and teratoma | NCIT:C8002 | MONDO:equivalentTo | Testicular Mixed Yolk Sac Tumor and Teratoma | A malignant non-seminomatous germ cell tumor arising from the testis. It is characterized by a mixture of yolk sac and teratomatous morphologic elements. Patients may present with painless or painful testicular swelling. | MONDO:0003403|MONDO:0003120 | +| MONDO:0858172 | testicular mixed yolk sac tumor and teratoma with seminoma | NCIT:C8003 | MONDO:equivalentTo | Testicular Mixed Yolk Sac Tumor and Teratoma with Seminoma | A malignant germ cell tumor arising from the testis. It is characterized by a mixture of yolk sac, teratomatous, and seminomatous morphologic elements. Patients may present with painless or painful testicular swelling. | MONDO:0003120 | +| MONDO:0858173 | pancreatic somatostatin-producing neuroendocrine tumor | NCIT:C8006 | MONDO:equivalentTo | Pancreatic Somatostatin-Producing Neuroendocrine Tumor | A usually malignant, somatostatin producing neuroendocrine tumor, arising from the delta cells of the pancreas. It may or may not be associated with inappropriate secretion of somatostatin and an associated clinical syndrome. | MONDO:0006976|MONDO:0002994 | +| MONDO:0858174 | salivary gland low grade carcinoma | NCIT:C8012 | MONDO:equivalentTo | Salivary Gland Low Grade Carcinoma | A salivary gland carcinoma with low-grade histopathologic features. It includes the salivary gland polymorphous low grade adenocarcinoma, salivary gland low grade cribriform cystadenocarcinoma, and low grade salivary gland mucoepidermoid carcinoma. It usually follows a non-aggressive clinical course. | MONDO:0000521 | +| MONDO:0858175 | lip basal cell carcinoma | NCIT:C8014 | MONDO:equivalentTo | Lip Basal Cell Carcinoma | A basal cell carcinoma arising from the lip. | MONDO:0005341|MONDO:0021333 | +| MONDO:0858176 | salivary gland intermediate grade mucoepidermoid carcinoma | NCIT:C8017 | MONDO:equivalentTo | Salivary Gland Intermediate Grade Mucoepidermoid Carcinoma | A salivary gland mucoepidermoid carcinoma with intermediate-grade histopathologic features. | MONDO:0021009 | +| MONDO:0858177 | salivary gland high grade carcinoma | NCIT:C8018 | MONDO:equivalentTo | Salivary Gland High Grade Carcinoma | A usually aggressive salivary gland carcinoma with high-grade histopathologic features. It includes the salivary duct carcinoma, salivary gland oncocytic carcinoma, and high grade salivary gland mucoepidermoid carcinoma. | MONDO:0000521 | +| MONDO:0858178 | salivary gland adenocarcinoma | NCIT:C8021 | MONDO:equivalentTo | Salivary Gland Adenocarcinoma | An adenocarcinoma arising from the salivary gland. It includes the salivary gland polymorphous low grade adenocarcinoma, salivary gland oncocytic carcinoma, salivary gland mucinous adenocarcinoma, salivary gland low grade cribriform cystadenocarcinoma, salivary gland cystadenocarcinoma, salivary gland basal cell adenocarcinoma, salivary gland acinic cell carcinoma, salivary duct carcinoma, and salivary gland adenocarcinoma not otherwise specified. | MONDO:0000521|MONDO:0004970 | +| MONDO:0858179 | salivary gland poorly differentiated squamous cell carcinoma | NCIT:C8022 | MONDO:equivalentTo | Salivary Gland Poorly Differentiated Squamous Cell Carcinoma | A poorly differentiated squamous cell carcinoma arising from the salivary gland. | MONDO:0044740 | +| MONDO:0858180 | salivary gland undifferentiated carcinoma | NCIT:C8024 | MONDO:equivalentTo | Salivary Gland Undifferentiated Carcinoma | A salivary gland carcinoma characterized by the presence of undifferentiated, anaplastic malignant epithelial cells. | MONDO:0005617|MONDO:0000521 | +| MONDO:0858182 | diffuse large b-cell lymphoma, not otherwise specified | NCIT:C80280 | MONDO:equivalentTo | Diffuse Large B-Cell Lymphoma, Not Otherwise Specified | A term referring to a group of diffuse large B-cell lymphomas which are biologically heterogeneous. These lymphomas have a centroblastic, immunoblastic, or anaplastic morphology. | MONDO:0018905 | +| MONDO:0858183 | diffuse large b-cell lymphoma associated with chronic inflammation | NCIT:C80289 | MONDO:equivalentTo | Diffuse Large B-Cell Lymphoma Associated with Chronic Inflammation | A diffuse large B-cell lymphoma arising in body cavities or narrow spaces of long standing chronic inflammation. The classic example is the pyothorax-associated lymphoma that arises in the pleural cavity of patients with a history of long standing pyothorax. | MONDO:0018905 | +| MONDO:0858184 | progressive hairy cell leukemia initial treatment | NCIT:C8029 | MONDO:equivalentTo | Progressive Hairy Cell Leukemia Initial Treatment | A hairy cell leukemia requiring initial treatment because of the presence of signs of progression. Signs of progression include cytopenia (especially if symptomatic), increasing splenomegaly, and infectious complications. Therapy is not necessary if the patients are asymptomatic and the blood counts are maintained in an acceptable range. | MONDO:0018935 | +| MONDO:0858185 | high grade b-cell lymphoma, not otherwise specified | NCIT:C80291 | MONDO:equivalentTo | High Grade B-Cell Lymphoma, Not Otherwise Specified | High-grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma that lacks MYC, BCL2, and BCL6 gene rearrangements. | MONDO:0044889 | +| MONDO:0858186 | pediatric-type follicular lymphoma | NCIT:C80297 | MONDO:equivalentTo | Pediatric-Type Follicular Lymphoma | A nodal follicular lymphoma with favorable prognosis. It lacks BCL-2 rearrangement and 14;18 translocation. Nearly all cases are localized. It is usually seen in the pediatric population but similar lymphomas may occur in adults. | MONDO:0018906 | +| MONDO:0858189 | monoclonal b-cell lymphocytosis | NCIT:C80310 | MONDO:equivalentTo | Monoclonal B-Cell Lymphocytosis | A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia. It precedes virtually all cases of chronic lymphocytic leukemia/small lymphocytic lymphoma. | MONDO:0004949 | +| MONDO:0858190 | b lymphoblastic leukemia/lymphoma, not otherwise specified | NCIT:C80326 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified | B-lymphoblastic leukemias/lymphomas characterized by the absence of recurrent genetic abnormalities. | MONDO:0004947 | +| MONDO:0858191 | b lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); tcf3-pbx1 | NCIT:C80341 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 | A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. | MONDO:0035605 | +| MONDO:0858205 | regional adrenal gland pheochromocytoma | NCIT:C8045 | MONDO:equivalentTo | Regional Adrenal Gland Pheochromocytoma | A pheochromocytoma that has not spread to other regions. | MONDO:0004974 | +| MONDO:0858211 | stage i ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8083 | MONDO:equivalentTo | Stage I Ovarian Germ Cell Tumor AJCC v6 and v7 | Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.) | MONDO:0018171 | +| MONDO:0858212 | stage ii ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8084 | MONDO:equivalentTo | Stage II Ovarian Germ Cell Tumor AJCC v6 and v7 | Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0018171 | +| MONDO:0858213 | stage iii ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8085 | MONDO:equivalentTo | Stage III Ovarian Germ Cell Tumor AJCC v6 and v7 | Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0018171 | +| MONDO:0858214 | stage iv ovarian germ cell tumor ajcc v6 and v7 | NCIT:C8086 | MONDO:equivalentTo | Stage IV Ovarian Germ Cell Tumor AJCC v6 and v7 | Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.) | MONDO:0018171 | +| MONDO:0858219 | regional renal pelvis and ureter urothelial carcinoma | NCIT:C8168 | MONDO:equivalentTo | Regional Renal Pelvis and Ureter Urothelial Carcinoma | Urothelial carcinoma of the renal pelvis or ureter that has spread to adjacent tissues and/or regional lymph nodes but not to distant anatomic sites. | MONDO:0020654 | +| MONDO:0858221 | buccal mucosa verrucous carcinoma | NCIT:C8175 | MONDO:equivalentTo | Buccal Mucosa Verrucous Carcinoma | A verrucous carcinoma of the oral cavity that arises from the buccal mucosa. | MONDO:0021538|MONDO:0021431 | +| MONDO:0858222 | fibroblastic reticular cell sarcoma | NCIT:C81758 | MONDO:equivalentTo | Fibroblastic Reticular Cell Sarcoma | A very rare dendritic cell sarcoma affecting the lymph nodes, spleen, and soft tissues. Morphologically it is similar to the interdigitating dendritic cell sarcoma or follicular dendritic cell sarcoma. The tumor cells are positive for cytokeratin and CD68. | MONDO:0006247|MONDO:0004992 | +| MONDO:0858224 | disseminated juvenile xanthogranuloma | NCIT:C81772 | MONDO:equivalentTo | Disseminated Juvenile Xanthogranuloma | Juvenile xanthogranuloma disseminated to extracutaneous sites including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells forming nodules in the affected anatomic sites. | MONDO:0006247 | +| MONDO:0858225 | oral cavity adenoid cystic carcinoma | NCIT:C8179 | MONDO:equivalentTo | Oral Cavity Adenoid Cystic Carcinoma | An adenoid cystic carcinoma arising from the minor salivary glands in the oral cavity. | MONDO:0004971|MONDO:0044925 | +| MONDO:0858240 | mixed phenotype acute leukemia, b/myeloid | NCIT:C82212 | MONDO:equivalentTo | Mixed Phenotype Acute Leukemia, B/Myeloid | A rare mixed phenotype acute leukemia in which the blasts express B-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable. | MONDO:0020743 | +| MONDO:0858241 | mixed phenotype acute leukemia, t/myeloid | NCIT:C82213 | MONDO:equivalentTo | Mixed Phenotype Acute Leukemia, T/Myeloid | A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable. | MONDO:0020743 | +| MONDO:0858242 | natural killer cell lymphoblastic leukemia/lymphoma | NCIT:C82217 | MONDO:equivalentTo | Natural Killer Cell Lymphoblastic Leukemia/Lymphoma | A precursor lymphoid neoplasm that expresses CD56 and immature T-cell markers, lacks B-lymphoid and myeloid markers, and has immunoglobulin and T-cell receptor genes in the germline configuration. | MONDO:0003538 | +| MONDO:0858245 | myelodysplastic/myeloproliferative neoplasm post cytotoxic therapy | NCIT:C82397 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm Post Cytotoxic Therapy | A myelodysplastic/myeloproliferative neoplasm arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. | MONDO:0006311|MONDO:0006450 | +| MONDO:0858246 | acute myeloid leukemia with myelodysplasia-related gene mutations | NCIT:C82430 | MONDO:equivalentTo | Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations | A group of acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia. | MONDO:0100409 | +| MONDO:0858249 | de novo myelodysplastic syndrome | NCIT:C8253 | MONDO:equivalentTo | de novo Myelodysplastic Syndrome | A primary myelodysplastic syndrome not associated with prior radiation or chemotherapy treatment. | MONDO:0018881 | +| MONDO:0858251 | adult anaplastic astrocytoma | NCIT:C8257 | MONDO:equivalentTo | Adult Anaplastic Astrocytoma | An astrocytoma occurring in adults that is characterized by the presence of high mitotic activity, cytologic atypia, and architectural distortion. | MONDO:0004320|MONDO:0016684 | +| MONDO:0858252 | refractory neutropenia | NCIT:C82593 | MONDO:equivalentTo | Refractory Neutropenia | A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic neutrophils in the bone marrow or the peripheral blood. | MONDO:0005272 | +| MONDO:0858253 | refractory thrombocytopenia | NCIT:C82594 | MONDO:equivalentTo | Refractory Thrombocytopenia | A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic megakaryocytes, found within at least 30 megakaryocytes examined in the bone marrow. | MONDO:0005272 | +| MONDO:0858254 | myelodysplastic syndrome with excess blasts and fibrosis | NCIT:C82595 | MONDO:equivalentTo | Myelodysplastic Syndrome with Excess Blasts and Fibrosis | Myelodysplastic syndrome with excess blasts associated with significant reticulin fibrosis of the bone marrow. | MONDO:0019454 | +| MONDO:0858256 | myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis, not otherwise specified | NCIT:C82616 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis, Not Otherwise Specified | A myelodysplastic/myeloproliferative neoplasm characterized by marked thrombocytosis, anemia, erythroid lineage dysplasia, presence or absence of multilineage dysplasia, 15% or more ring sideroblasts, blasts less than 5% in bone marrow and less than 1% in peripheral blood, absence of BCR/ABL fusion, absence of SF3B1 mutation, absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, and no history of other myelodysplastic/myeloproliferative neoplasms or myeloproliferative neoplasms and myelodysplastic syndromes. | MONDO:0006311 | +| MONDO:0858257 | adult cholangiocarcinoma | NCIT:C8265 | MONDO:equivalentTo | Adult Cholangiocarcinoma | A cholangiocarcinoma occurring in adults. | MONDO:0019087 | +| MONDO:0858258 | meyerson nevus | NCIT:C82862 | MONDO:equivalentTo | Meyerson Nevus | A benign melanocytic nevus surrounded by eczematous changes. | MONDO:0044794 | +| MONDO:0858259 | cystic oncocytic neoplasm | NCIT:C82890 | MONDO:equivalentTo | Cystic Oncocytic Neoplasm | An oncocytoma with cystic degenerative changes. | MONDO:0010795 | +| MONDO:0858265 | duodenal extraskeletal osteosarcoma | NCIT:C82972 | MONDO:equivalentTo | Duodenal Extraskeletal Osteosarcoma | An extraskeletal osteosarcoma affecting the duodenum. | MONDO:0000920|MONDO:0002621|MONDO:0003361 | +| MONDO:0858272 | cellular pleomorphic adenoma | NCIT:C83174 | MONDO:equivalentTo | Cellular Pleomorphic Adenoma | A pleomorphic adenoma with increased cellularity. | MONDO:0008401 | +| MONDO:0858275 | atypical hyperplasia | NCIT:C8355 | MONDO:equivalentTo | Atypical Hyperplasia | | | +| MONDO:0858277 | low grade intraepithelial neoplasia | NCIT:C8367 | MONDO:equivalentTo | Low Grade Intraepithelial Neoplasia | A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. It is characterized by the presence of mild epithelial dysplasia. | MONDO:0024474 | +| MONDO:0858280 | lymphangiomatosis | NCIT:C8373 | MONDO:equivalentTo | Lymphangiomatosis | A lymphangioma affecting several anatomic sites. | MONDO:0036870 | +| MONDO:0858283 | fibrohistiocytic neoplasm | NCIT:C8402 | MONDO:equivalentTo | Fibrohistiocytic Neoplasm | A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. | MONDO:0002616 | +| MONDO:0858284 | benign supraglottis neoplasm | NCIT:C8414 | MONDO:equivalentTo | Benign Supraglottis Neoplasm | A neoplasm that arises from the supraglottis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0004427|MONDO:0002354 | +| MONDO:0858285 | benign bartholin gland neoplasm | NCIT:C8418 | MONDO:equivalentTo | Benign Bartholin Gland Neoplasm | A non-metastasizing neoplasm that arises from the Bartholin gland. Representative examples include adenoma and adenomyoma. | MONDO:0000643|MONDO:0021114 | +| MONDO:0858286 | diffuse malignant mesothelioma | NCIT:C8420 | MONDO:equivalentTo | Diffuse Malignant Mesothelioma | A diffuse malignant neoplasm that arises from mesothelial cells, usually in the pleura or peritoneum. Histologic variants include biphasic, epithelioid, sarcomatoid, and desmoplastic mesothelioma. | MONDO:0006292 | +| MONDO:0858287 | renal benign mesenchymoma | NCIT:C84256 | MONDO:equivalentTo | Renal Benign Mesenchymoma | A benign mesenchymoma arising from the kidney. | MONDO:0002382 | +| MONDO:0858288 | diffuse neurofibroma | NCIT:C8426 | MONDO:equivalentTo | Diffuse Neurofibroma | A rare neurofibroma with an infiltrative growth pattern. It involves the skin and subcutaneous tissue and grows in a plaque-like fashion. Malignant transformation is rare. | MONDO:0016755 | +| MONDO:0858289 | anaplastic astroblastoma, mn1-altered | NCIT:C84347 | MONDO:equivalentTo | Anaplastic Astroblastoma, MN1-Altered | An astroblastoma, MN1-altered, characterized by the presence of high mitotic activity, cytologic atypia, and architectural distortion. | MONDO:0016707 | +| MONDO:0858299 | asbestos-related lung disorder | NCIT:C84472 | MONDO:equivalentTo | Asbestos-Related Lung Disorder | A disorder affecting the lungs due to asbestos exposure. Examples include asbestosis and lung carcinoma. | | +| MONDO:0858304 | central nervous system cavernous hemangioma | NCIT:C84621 | MONDO:equivalentTo | Central Nervous System Cavernous Hemangioma | A cavernous hemangioma arising from the central nervous system. | MONDO:0003241|MONDO:0003155 | +| MONDO:0858314 | invasive malignant neoplasm | NCIT:C8505 | MONDO:equivalentTo | Invasive Malignant Neoplasm | Cancer that has spread beyond the layer of tissue in which it developed and is growing into surrounding, healthy tissues. | MONDO:0004992 | +| MONDO:0858316 | refractory carcinoma | NCIT:C8511 | MONDO:equivalentTo | Refractory Carcinoma | A carcinoma that does not respond to treatment. | MONDO:0036501|MONDO:0004993 | +| MONDO:0858321 | locally advanced malignant neoplasm | NCIT:C8524 | MONDO:equivalentTo | Locally Advanced Malignant Neoplasm | A malignant neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes. | MONDO:0024880 | +| MONDO:0858324 | benign respiratory system neoplasm | NCIT:C8531 | MONDO:equivalentTo | Benign Respiratory System Neoplasm | A neoplasm that arises from the respiratory system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0005165|MONDO:0020641 | +| MONDO:0858330 | metastatic malignant neoplasm in the nervous system | NCIT:C8547 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Nervous System | The spread of a malignant neoplasm to the nervous system. This may be from a primary nervous system malignant neoplasm, or from a malignant neoplasm at a distant site. | MONDO:0005872|MONDO:0024880 | +| MONDO:0858334 | metastatic malignant neoplasm in the retina | NCIT:C8555 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Retina | A malignant neoplasm that has spread to the retina from another anatomic site. | MONDO:0003072|MONDO:0044913 | +| MONDO:0858337 | metastatic malignant neoplasm of unknown primary | NCIT:C8566 | MONDO:equivalentTo | Metastatic Malignant Neoplasm of Unknown Primary | The spread of a malignant neoplasm from an unknown primary to another region remote from the primary site. | MONDO:0024880 | +| MONDO:0858339 | invasive cervical carcinoma | NCIT:C8577 | MONDO:equivalentTo | Invasive Cervical Carcinoma | A carcinoma that arises from the cervix and invades into the stromal tissue. | MONDO:0040677|MONDO:0005131 | +| MONDO:0858341 | precancerous polyp | NCIT:C8587 | MONDO:equivalentTo | Precancerous Polyp | A polyp with severe dysplastic features. | MONDO:0021075 | +| MONDO:0858342 | leukemic phase of lymphoma | NCIT:C8594 | MONDO:equivalentTo | Leukemic Phase of Lymphoma | A usually terminal event in the clinical course of lymphomas. The term indicates the presence of atypical, clonal (malignant) lymphocytes (lymphoma cells) in the peripheral blood. | MONDO:0005402|MONDO:0018908 | +| MONDO:0858343 | postcricoid carcinoma | NCIT:C8595 | MONDO:equivalentTo | Postcricoid Carcinoma | A carcinoma of the hypopharynx that arises from the postcricoid region. | MONDO:0005216|MONDO:0004635 | +| MONDO:0858346 | anaplastic (malignant) intraspinal meningioma | NCIT:C8605 | MONDO:equivalentTo | Anaplastic (Malignant) Intraspinal Meningioma | An anaplastic (malignant) meningioma involving the spinal meninges. | MONDO:0020635|MONDO:0001279 | +| MONDO:0858350 | malignant hepatobiliary neoplasm | NCIT:C8609 | MONDO:equivalentTo | Malignant Hepatobiliary Neoplasm | A malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. | MONDO:0002514|MONDO:0002516 | +| MONDO:0858351 | metastatic malignant neoplasm in the adrenal gland | NCIT:C8610 | MONDO:equivalentTo | Metastatic Malignant Neoplasm in the Adrenal Gland | A malignant tumor that has spread to the adrenal gland from an adjacent or distant anatomic site. The majority of cases are metastatic carcinomas, and less frequently lymphomas. | MONDO:0002817|MONDO:0024880 | +| MONDO:0858363 | stage i t lymphoblastic leukemia/lymphoma | NCIT:C8697 | MONDO:equivalentTo | Stage I T Lymphoblastic Leukemia/Lymphoma | Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (Rare in Hodgkin lymphoma). | MONDO:0003537 | +| MONDO:0858364 | stage ii t lymphoblastic leukemia/lymphoma | NCIT:C8698 | MONDO:equivalentTo | Stage II T Lymphoblastic Leukemia/Lymphoma | Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in a with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). | MONDO:0003537 | +| MONDO:0858365 | stage iii t lymphoblastic leukemia/lymphoma | NCIT:C8699 | MONDO:equivalentTo | Stage III T Lymphoblastic Leukemia/Lymphoma | Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S). | MONDO:0003537 | +| MONDO:0858366 | stage iv t lymphoblastic leukemia/lymphoma | NCIT:C8700 | MONDO:equivalentTo | Stage IV T Lymphoblastic Leukemia/Lymphoma | Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, or nodular involvement of the lungs(s). | MONDO:0003537 | +| MONDO:0858370 | metastatic malignant hemangiopericytoma | NCIT:C8709 | MONDO:equivalentTo | Metastatic Malignant Hemangiopericytoma | A malignant hemangiopericytoma which has spread to another anatomical site. | MONDO:0009330 | +| MONDO:0858371 | primary malignant hemangiopericytoma | NCIT:C8710 | MONDO:equivalentTo | Primary Malignant Hemangiopericytoma | A rare malignant mesenchymal neoplasm that is believed to have its origin in smooth muscle derived pericytes without evidence of metastases. | MONDO:0009330 | +| MONDO:0858381 | stage i ovarian choriocarcinoma | NCIT:C8730 | MONDO:equivalentTo | Stage I Ovarian Choriocarcinoma | Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0003507 | +| MONDO:0858382 | stage ii ovarian choriocarcinoma | NCIT:C8731 | MONDO:equivalentTo | Stage II Ovarian Choriocarcinoma | Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0003507 | +| MONDO:0858383 | stage iii ovarian choriocarcinoma | NCIT:C8732 | MONDO:equivalentTo | Stage III Ovarian Choriocarcinoma | Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0003507 | +| MONDO:0858384 | stage iv ovarian choriocarcinoma | NCIT:C8733 | MONDO:equivalentTo | Stage IV Ovarian Choriocarcinoma | Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.) | MONDO:0003507 | +| MONDO:0858395 | stage i pharyngeal cancer | NCIT:C8768 | MONDO:equivalentTo | Stage I Pharyngeal Cancer | Stage I carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0021345 | +| MONDO:0858396 | stage ii pharyngeal cancer | NCIT:C8769 | MONDO:equivalentTo | Stage II Pharyngeal Cancer | Stage II carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0021345 | +| MONDO:0858397 | stage iii pharyngeal cancer | NCIT:C8770 | MONDO:equivalentTo | Stage III Pharyngeal Cancer | Stage III carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0021345 | +| MONDO:0858398 | stage iv pharyngeal cancer | NCIT:C8771 | MONDO:equivalentTo | Stage IV Pharyngeal Cancer | Stage IV carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. | MONDO:0021345 | +| MONDO:0858443 | b lymphoblastic lymphoma | NCIT:C8868 | MONDO:equivalentTo | B Lymphoblastic Lymphoma | An uncommon type of lymphoma. It constitutes approximately 10% of cases of lymphoblastic lymphoma. Approximately 75% of cases reported in a literature review involved patients who were less than 18 years of age. The most commonly affected sites are the skin, bone, soft tissue, and lymph nodes. It has a high remission rate with a median survival of approximately 60 months. (WHO, 2001) | MONDO:0000873|MONDO:0017595|MONDO:0004947 | +| MONDO:0858446 | extragonadal embryonal carcinoma | NCIT:C8880 | MONDO:equivalentTo | Extragonadal Embryonal Carcinoma | An embryonal carcinoma that develops as a primary tumor in an anatomic site other than the testis or ovary. | MONDO:0003578|MONDO:0005440 | +| MONDO:0858459 | pediatric disorder | NCIT:C89328 | MONDO:equivalentTo | Pediatric Disorder | A non-neoplastic or neoplastic disorder which occurs during infancy, childhood, or adolescence. | | +| MONDO:0858464 | fundic gland polyp | NCIT:C8961 | MONDO:equivalentTo | Fundic Gland Polyp | The most common gastric polyp in the Western hemisphere. The lesion consists of a localized hyperplasia of the deep epithelial compartment of the oxyntic mucosa, with variable degrees of cystic dilatation. Malignant transformation is the exception. (WHO, 2000) | MONDO:0006221|MONDO:0036976 | +| MONDO:0858471 | oral neoplasm | NCIT:C8989 | MONDO:equivalentTo | Oral Neoplasm | A benign or malignant neoplasm involving the oral cavity and/or the lips. | MONDO:0005586|MONDO:0006858 | +| MONDO:0858472 | malignant mastocytosis | NCIT:C8991 | MONDO:equivalentTo | Malignant Mastocytosis | A group of malignant mast cell disorders including aggressive systemic mastocytosis, mast cell leukemia, mast cell sarcoma, and systemic mastocytosis with an associated myeloid neoplasm. Individuals with advanced systemic mastocytosis have a reduced life expectancy, with median survival measured in months to years. | MONDO:0004992|MONDO:0016586 | +| MONDO:0858473 | benign adrenal cortical neoplasm | NCIT:C9004 | MONDO:equivalentTo | Benign Adrenal Cortical Neoplasm | A neoplasm that arises from the adrenal cortex and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021511|MONDO:0036591 | +| MONDO:0858474 | acute myelomonocytic leukemia with abnormal eosinophils | NCIT:C9020 | MONDO:equivalentTo | Acute Myelomonocytic Leukemia with Abnormal Eosinophils | Acute myelomonocytic leukemia characterized by the presence of abnormal bone marrow eosinophils. It is associated with inv(16)(p13.1;q22) or t(16;16)(p13.1;q22). It has a favorable prognosis. | MONDO:0018871 | +| MONDO:0858475 | sarcoma by fnclcc grade | NCIT:C9023 | MONDO:equivalentTo | Sarcoma by FNCLCC Grade | Grading of sarcomas according to the French Federation of Cancer Centers Sarcoma Group (FNCLCC). This sarcoma grading system is based on three factors: differentiation, mitotic count, and tumor necrosis. The scores for each factor are added to determine the grade (1 to 3) for the sarcoma. | MONDO:0005089 | +| MONDO:0858477 | atypical cartilaginous tumor/chondrosarcoma, grade 1 | NCIT:C9027 | MONDO:equivalentTo | Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 | A low-grade chondrosarcoma characterized by the presence of moderate cellularity, hyperchromatic and plump nuclei of uniform size, and occasional binucleated cells. Mitotic figures are absent. | MONDO:0008977 | +| MONDO:0858479 | renal cell cancer by ajcc v6 stage | NCIT:C90343 | MONDO:equivalentTo | Renal Cell Cancer by AJCC v6 Stage | A term that refers to the staging of renal cell cancer according to the American Joint Committee on Cancer, 6th edition. | MONDO:0005549 | +| MONDO:0858480 | bladder cancer by ajcc v6 stage | NCIT:C90344 | MONDO:equivalentTo | Bladder Cancer by AJCC v6 Stage | A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 6th edition. | MONDO:0004986 | +| MONDO:0858481 | vulvar cancer by ajcc v6 stage | NCIT:C90345 | MONDO:equivalentTo | Vulvar Cancer by AJCC v6 Stage | A term that refers to the staging of vulvar carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0005215 | +| MONDO:0858482 | vaginal cancer by ajcc v6 stage | NCIT:C90347 | MONDO:equivalentTo | Vaginal Cancer by AJCC v6 Stage | A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 6th edition. | MONDO:0015867 | +| MONDO:0858483 | adult angiosarcoma | NCIT:C9040 | MONDO:equivalentTo | Adult Angiosarcoma | An angiosarcoma occurring in the adult population. | MONDO:0016982 | +| MONDO:0858485 | extensive stage lung small cell carcinoma | NCIT:C9049 | MONDO:equivalentTo | Extensive Stage Lung Small Cell Carcinoma | Small cell lung carcinoma which has spread beyond one hemi-thorax and the regional lymph nodes. | MONDO:0008433 | +| MONDO:0858486 | cervical cancer by ajcc v6 stage | NCIT:C90493 | MONDO:equivalentTo | Cervical Cancer by AJCC v6 Stage | A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 6th edition. | MONDO:0005131 | +| MONDO:0858487 | uterine corpus cancer by ajcc v6 stage | NCIT:C90494 | MONDO:equivalentTo | Uterine Corpus Cancer by AJCC v6 Stage | A term that refers to the staging of uterine corpus cancer according to the American Joint Committee on Cancer, 6th edition. | MONDO:0006003 | +| MONDO:0858488 | fallopian tube cancer by ajcc v6 stage | NCIT:C90499 | MONDO:equivalentTo | Fallopian Tube Cancer by AJCC v6 Stage | A term that refers to the staging of fallopian tube carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0006206 | +| MONDO:0858489 | esophageal cancer by ajcc v6 stage | NCIT:C90500 | MONDO:equivalentTo | Esophageal Cancer by AJCC v6 Stage | A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0019086 | +| MONDO:0858490 | gastric cancer by ajcc v6 stage | NCIT:C90503 | MONDO:equivalentTo | Gastric Cancer by AJCC v6 Stage | | MONDO:0004950 | +| MONDO:0858491 | colorectal cancer by ajcc v6 stage | NCIT:C90506 | MONDO:equivalentTo | Colorectal Cancer by AJCC v6 Stage | A term that refers to the staging of colorectal carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0024331 | +| MONDO:0858493 | hepatocellular carcinoma by ajcc v6 stage | NCIT:C90510 | MONDO:equivalentTo | Hepatocellular Carcinoma by AJCC v6 Stage | A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0007256 | +| MONDO:0858494 | gallbladder cancer by ajcc v6 stage | NCIT:C90512 | MONDO:equivalentTo | Gallbladder Cancer by AJCC v6 Stage | A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 6th edition. | MONDO:0003220 | +| MONDO:0858495 | breast cancer by ajcc v6 stage | NCIT:C90513 | MONDO:equivalentTo | Breast Cancer by AJCC v6 Stage | A term that refers to the staging of breast cancer according to the American Joint Committee on Cancer, 6th edition. | MONDO:0004989 | +| MONDO:0858496 | cutaneous melanoma by ajcc v6 stage | NCIT:C90514 | MONDO:equivalentTo | Cutaneous Melanoma by AJCC v6 Stage | A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system. | MONDO:0005012 | +| MONDO:0858497 | lung cancer by ajcc v6 stage | NCIT:C90519 | MONDO:equivalentTo | Lung Cancer by AJCC v6 Stage | A term that refers to the staging of lung carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0005138 | +| MONDO:0858498 | penile cancer by ajcc v6 stage | NCIT:C90520 | MONDO:equivalentTo | Penile Cancer by AJCC v6 Stage | A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0006360 | +| MONDO:0858499 | prostate cancer by ajcc v6 stage | NCIT:C90521 | MONDO:equivalentTo | Prostate Cancer by AJCC v6 Stage | A term that refers to the staging of prostate carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0005159 | +| MONDO:0858502 | pharyngeal carcinoma by ajcc v6 stage | NCIT:C90525 | MONDO:equivalentTo | Pharyngeal Carcinoma by AJCC v6 Stage | A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0021345 | +| MONDO:0858503 | laryngeal cancer by ajcc v6 stage | NCIT:C90527 | MONDO:equivalentTo | Laryngeal Cancer by AJCC v6 Stage | A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0002358 | +| MONDO:0858504 | sinonasal cancer by ajcc v6 stage | NCIT:C90528 | MONDO:equivalentTo | Sinonasal Cancer by AJCC v6 Stage | A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 6th edition. | MONDO:0056819 | +| MONDO:0858510 | kaposi sarcoma related to immunosuppressive treatment | NCIT:C9113 | MONDO:equivalentTo | Kaposi Sarcoma Related to Immunosuppressive Treatment | A Kaposi sarcoma that develops after immunosuppressive treatment. | MONDO:0005188 | +| MONDO:0858511 | renal cell cancer by ajcc v7 stage | NCIT:C91201 | MONDO:equivalentTo | Renal Cell Cancer by AJCC v7 Stage | A term that refers to the staging of renal cell cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0005549 | +| MONDO:0858512 | bladder cancer by ajcc v7 stage | NCIT:C91202 | MONDO:equivalentTo | Bladder Cancer by AJCC v7 Stage | A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0004986 | +| MONDO:0858513 | vulvar cancer by ajcc v7 stage | NCIT:C91203 | MONDO:equivalentTo | Vulvar Cancer by AJCC v7 Stage | A term that refers to the staging of vulvar carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0005215 | +| MONDO:0858514 | vaginal cancer by ajcc v7 stage | NCIT:C91204 | MONDO:equivalentTo | Vaginal Cancer by AJCC v7 Stage | A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0015867 | +| MONDO:0858515 | cervical cancer by ajcc v7 stage | NCIT:C91208 | MONDO:equivalentTo | Cervical Cancer by AJCC v7 Stage | A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0005131 | +| MONDO:0858516 | uterine corpus cancer by ajcc v7 stage | NCIT:C91218 | MONDO:equivalentTo | Uterine Corpus Cancer by AJCC v7 Stage | A term that refers to the staging of uterine corpus cancer (carcinoma or carcinosarcoma) according to the American Joint Committee on Cancer, 7th edition. | MONDO:0006003 | +| MONDO:0858517 | fallopian tube cancer by ajcc v7 stage | NCIT:C91219 | MONDO:equivalentTo | Fallopian Tube Cancer by AJCC v7 Stage | A term that refers to the staging of fallopian tube carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0006206 | +| MONDO:0858518 | esophageal cancer by ajcc v7 stage | NCIT:C91221 | MONDO:equivalentTo | Esophageal Cancer by AJCC v7 Stage | A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0019086 | +| MONDO:0858519 | gastric cancer by ajcc v7 stage | NCIT:C91222 | MONDO:equivalentTo | Gastric Cancer by AJCC v7 Stage | A term that refers to the staging of gastric carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0004950 | +| MONDO:0858520 | colorectal cancer by ajcc v7 stage | NCIT:C91223 | MONDO:equivalentTo | Colorectal Cancer by AJCC v7 Stage | A term that refers to the staging of colorectal carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0024331 | +| MONDO:0858522 | hepatocellular carcinoma by ajcc v7 stage | NCIT:C91228 | MONDO:equivalentTo | Hepatocellular Carcinoma by AJCC v7 Stage | A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0007256 | +| MONDO:0858523 | gallbladder cancer by ajcc v7 stage | NCIT:C91229 | MONDO:equivalentTo | Gallbladder Cancer by AJCC v7 Stage | A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0003220 | +| MONDO:0858524 | breast cancer by ajcc v7 stage | NCIT:C91230 | MONDO:equivalentTo | Breast Cancer by AJCC v7 Stage | A term that refers to the staging of breast cancer according to the American Joint Committee on Cancer, 7th edition. | MONDO:0004989 | +| MONDO:0858525 | cutaneous melanoma by ajcc v7 stage | NCIT:C91231 | MONDO:equivalentTo | Cutaneous Melanoma by AJCC v7 Stage | A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system. | MONDO:0005012 | +| MONDO:0858526 | lung cancer by ajcc v7 stage | NCIT:C91232 | MONDO:equivalentTo | Lung Cancer by AJCC v7 Stage | A term that refers to the staging of lung carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0005138 | +| MONDO:0858527 | prostate cancer by ajcc v7 stage | NCIT:C91233 | MONDO:equivalentTo | Prostate Cancer by AJCC v7 Stage | A term that refers to the staging of prostate carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0005159 | +| MONDO:0858528 | penile cancer by ajcc v7 stage | NCIT:C91234 | MONDO:equivalentTo | Penile Cancer by AJCC v7 Stage | A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0006360 | +| MONDO:0858531 | pharyngeal carcinoma by ajcc v7 stage | NCIT:C91252 | MONDO:equivalentTo | Pharyngeal Carcinoma by AJCC v7 Stage | A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0021345 | +| MONDO:0858532 | sinonasal cancer by ajcc v7 stage | NCIT:C91255 | MONDO:equivalentTo | Sinonasal Cancer by AJCC v7 Stage | A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0056819 | +| MONDO:0858533 | laryngeal cancer by ajcc v7 stage | NCIT:C91256 | MONDO:equivalentTo | Laryngeal Cancer by AJCC v7 Stage | A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 7th edition. | MONDO:0002358 | +| MONDO:0858534 | chronic myeloid leukemia, philadelphia chromosome positive, bcr-abl1 positive | NCIT:C9128 | MONDO:equivalentTo | Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive | A chronic myeloid leukemia characterized by the t(9;22)(q34;q11) chromosomal translocation, resulting in the presence of the Philadelphia chromosome and the BCR-ABL1 fusion gene. | MONDO:0024685|MONDO:0011996 | +| MONDO:0858535 | adult rhabdomyosarcoma | NCIT:C9130 | MONDO:equivalentTo | Adult Rhabdomyosarcoma | An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in adults. | MONDO:0005212 | +| MONDO:0858536 | invasive breast carcinoma of no special type with predominant intraductal component | NCIT:C9132 | MONDO:equivalentTo | Invasive Breast Carcinoma of No Special Type with Predominant Intraductal Component | An invasive breast carcinoma of no special type characterized by the presence of a predominant ductal carcinoma in situ component and a minor component of invasive carcinoma. | MONDO:0004953 | +| MONDO:0858537 | invasive breast lobular carcinoma with predominant in situ component | NCIT:C9136 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma with Predominant In Situ Component | A breast carcinoma characterized by the presence of a predominant lobular carcinoma in situ component and a minor component of invasive carcinoma. | MONDO:0005051 | +| MONDO:0858538 | adult acute myeloid leukemia | NCIT:C9154 | MONDO:equivalentTo | Adult Acute Myeloid Leukemia | An acute myeloid leukemia occurring in adults. | MONDO:0018874 | +| MONDO:0858543 | testicular mixed embryonal carcinoma and yolk sac tumor with seminoma | NCIT:C9172 | MONDO:equivalentTo | Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor with Seminoma | A malignant germ cell tumor arising from the testis. It is characterized by a mixture of embryonal carcinoma, yolk sac, and seminomatous morphologic elements. Patients may present with painless or painful testicular swelling. | MONDO:0003120 | +| MONDO:0858546 | good prognosis metastatic gestational trophoblastic tumor | NCIT:C9177 | MONDO:equivalentTo | Good Prognosis Metastatic Gestational Trophoblastic Tumor | Metastatic gestational trophoblastic tumor in which risk factors are absent. | MONDO:0018944 | +| MONDO:0858547 | poor prognosis metastatic gestational trophoblastic tumor | NCIT:C9178 | MONDO:equivalentTo | Poor Prognosis Metastatic Gestational Trophoblastic Tumor | Metastatic gestational trophoblastic tumor in which risk factors are present. | MONDO:0018944 | +| MONDO:0858549 | intraocular schwannoma | NCIT:C92182 | MONDO:equivalentTo | Intraocular Schwannoma | A benign schwannoma occurring in the eye. | MONDO:0021454|MONDO:0004820 | +| MONDO:0858550 | esophageal malignant peripheral nerve sheath tumor | NCIT:C92185 | MONDO:equivalentTo | Esophageal Malignant Peripheral Nerve Sheath Tumor | A malignant peripheral nerve sheath tumor that affects the esophageal wall. | MONDO:0001204|MONDO:0017827 | +| MONDO:0858551 | intraocular malignant peripheral nerve sheath tumor | NCIT:C92186 | MONDO:equivalentTo | Intraocular Malignant Peripheral Nerve Sheath Tumor | A malignant peripheral nerve sheath tumor that occurs in the intraocular area. | MONDO:0002236|MONDO:0017827 | +| MONDO:0858558 | non-hematologic malignancy | NCIT:C9226 | MONDO:equivalentTo | Non-Hematologic Malignancy | A malignant neoplasm that arises from a site other than the bone marrow and lymphoid tissue. | MONDO:0004992 | +| MONDO:0858562 | recurrent malignant hemangiopericytoma | NCIT:C9254 | MONDO:equivalentTo | Recurrent Malignant Hemangiopericytoma | A rare malignant mesenchymal neoplasm, believed to have its origin in smooth muscle derived pericytes, which has recurred after treatment. | MONDO:0009330 | +| MONDO:0858563 | multifocal glioblastomas | NCIT:C92549 | MONDO:equivalentTo | Multifocal Glioblastomas | The occurrence of multiple and independent glioblastomas that are unrelated to inherited neoplastic syndromes. | MONDO:0018177 | +| MONDO:0858565 | glioneuronal tumor with neuropil-like islands | NCIT:C92550 | MONDO:equivalentTo | Glioneuronal Tumor with Neuropil-Like Islands | A rare, WHO grade II or III infiltrating astrocytoma characterized by the presence of sharply demarcated foci, composed of a neuropil-like matrix. | MONDO:0019781 | +| MONDO:0858569 | anaplastic medulloblastoma | NCIT:C92625 | MONDO:equivalentTo | Anaplastic Medulloblastoma | A medulloblastoma characterized by marked nuclear pleomorphism, and high mitotic activity. | MONDO:0007959 | +| MONDO:0858573 | malignant peripheral nerve sheath tumor with mesenchymal differentiation | NCIT:C92647 | MONDO:equivalentTo | Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation | A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component. | MONDO:0017827 | +| MONDO:0858574 | mycosis fungoides and sezary syndrome | NCIT:C9265 | MONDO:equivalentTo | Mycosis Fungoides and Sezary Syndrome | Mature T and NK neoplasms predominantly affecting the skin and the peripheral blood. Peripheral blood involvement by abnormal T-cells (cerebriform cells) is a late manifestation of mycosis fungoides, whereas it is the presenting finding in Sezary syndrome. | MONDO:0000430 | +| MONDO:0858580 | advanced malignant neoplasm | NCIT:C9270 | MONDO:equivalentTo | Advanced Malignant Neoplasm | A malignant neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment. | MONDO:0024880 | +| MONDO:0858584 | lymphocyte-depleted classic hodgkin lymphoma | NCIT:C9283 | MONDO:equivalentTo | Lymphocyte-Depleted Classic Hodgkin Lymphoma | A diffuse subtype of classic Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) | MONDO:0009348 | +| MONDO:0858585 | central nervous system histiocytic and dendritic cell neoplasm | NCIT:C92944 | MONDO:equivalentTo | Central Nervous System Histiocytic and Dendritic Cell Neoplasm | A neoplasm that originates from histiocytes and accessory cells and affects the central nervous system. It is usually associated with the presence of identical tumors outside the central nervous system. Representative examples include Langerhans cell histiocytosis, histiocytic sarcoma, and follicular dendritic cell sarcoma. | MONDO:0006247|MONDO:0003641 | +| MONDO:0858588 | peritoneal malignant mesothelioma | NCIT:C9350 | MONDO:equivalentTo | Peritoneal Malignant Mesothelioma | An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. | MONDO:0006292|MONDO:0002087|MONDO:0006362 | +| MONDO:0858595 | combined lung small cell carcinoma and lung adenocarcinoma | NCIT:C9379 | MONDO:equivalentTo | Combined Lung Small Cell Carcinoma and Lung Adenocarcinoma | A lung carcinoma characterized by a combination of small cell carcinoma and adenocarcinoma. | MONDO:0003438 | +| MONDO:0858597 | well differentiated malignant hemangiopericytoma | NCIT:C9392 | MONDO:equivalentTo | Well Differentiated Malignant Hemangiopericytoma | A malignant hemangiopericytoma with well-differentiated morphological features. | MONDO:0009330 | +| MONDO:0858598 | malignant hemangiopericytoma nci grade 2 | NCIT:C9393 | MONDO:equivalentTo | Malignant Hemangiopericytoma NCI Grade 2 | | MONDO:0002789 | +| MONDO:0858599 | malignant hemangiopericytoma nci grade 3 | NCIT:C9394 | MONDO:equivalentTo | Malignant Hemangiopericytoma NCI Grade 3 | | MONDO:0002789 | +| MONDO:0858600 | round cell liposarcoma nci grade 2 | NCIT:C9401 | MONDO:equivalentTo | Round Cell Liposarcoma NCI Grade 2 | | MONDO:0005238 | +| MONDO:0858601 | round cell liposarcoma nci grade 3 | NCIT:C9402 | MONDO:equivalentTo | Round Cell Liposarcoma NCI Grade 3 | | MONDO:0005238 | +| MONDO:0858603 | childhood hematopoietic and lymphoid cell neoplasm | NCIT:C9431 | MONDO:equivalentTo | Childhood Hematopoietic and Lymphoid Cell Neoplasm | A neoplasm of hematopoietic and lymphoid cell origin that occurs during childhood. Representative examples include acute leukemias and lymphomas. | MONDO:0021079|MONDO:0044881 | +| MONDO:0858619 | grade 1 colorectal adenocarcinoma | NCIT:C9446 | MONDO:equivalentTo | Grade 1 Colorectal Adenocarcinoma | A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with more than 95% glandular formation. | MONDO:0005008 | +| MONDO:0858620 | grade 2 colorectal adenocarcinoma | NCIT:C9447 | MONDO:equivalentTo | Grade 2 Colorectal Adenocarcinoma | A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with 50-95% glandular formation. | MONDO:0005008 | +| MONDO:0858621 | grade 3 colorectal adenocarcinoma | NCIT:C9448 | MONDO:equivalentTo | Grade 3 Colorectal Adenocarcinoma | A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation. | MONDO:0005008 | +| MONDO:0858623 | spindle cell oncocytoma | NCIT:C94537 | MONDO:equivalentTo | Spindle Cell Oncocytoma | A very rare, WHO grade 1 neoplasm of the posterior pituitary. It is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. Electron microscopic studies demonstrate the accumulation of intracytoplasmic mitochondria and lack of secretory granules. Immunohistochemical studies are negative for pituitary hormones. Patients may present with pituitary hypofunction, visual disturbances, headache, nausea and vomiting. The clinical course is usually benign. | MONDO:0010795|MONDO:0003257 | +| MONDO:0858625 | breast ductal carcinoma in situ, intermediate grade | NCIT:C9456 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Intermediate Grade | Breast ductal carcinoma in situ characterized by the presence of monomorphic neoplastic cells that form cribriform, micropapillary, or solid patterns. Intraluminal necrosis is present in some ducts. Ducts that contain neoplastic cells with occasional nucleoli and coarse chromatin may also be present. | MONDO:0005023 | +| MONDO:0858626 | breast ductal carcinoma in situ, low grade | NCIT:C9457 | MONDO:equivalentTo | Breast Ductal Carcinoma In Situ, Low Grade | Breast ductal carcinoma in situ characterized by the presence of small, monomorphic neoplastic cells that form cribriform, micropapillary, or solid patterns. The nuclei are uniform and mitotic figures are rare. | MONDO:0005023 | +| MONDO:0858627 | borderline ovarian brenner tumor | NCIT:C9459 | MONDO:equivalentTo | Borderline Ovarian Brenner Tumor | A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic atypical urothelial-type cells in a fibrotic stroma without evidence of invasion. | MONDO:0016093|MONDO:0002370 | +| MONDO:0858628 | systemic anaplastic large cell lymphoma | NCIT:C9470 | MONDO:equivalentTo | Systemic Anaplastic Large Cell Lymphoma | An anaplastic large cell lymphoma that is not confined to a single anatomic site and involves multiple nodal and/or extranodal sites. | MONDO:0020325 | +| MONDO:0858630 | meningeal leukemia | NCIT:C94754 | MONDO:equivalentTo | Meningeal Leukemia | Infiltration of the meninges by an acute or chronic leukemia. | MONDO:0700219|MONDO:0001606 | +| MONDO:0858631 | meningeal lymphoma | NCIT:C94756 | MONDO:equivalentTo | Meningeal Lymphoma | Involvement of the meninges by Hodgkin or non-Hodgkin lymphoma. | MONDO:0002571|MONDO:0021322 | +| MONDO:0858632 | multifocal breast carcinoma | NCIT:C94770 | MONDO:equivalentTo | Multifocal Breast Carcinoma | A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from the same clone and are usually located in the same quadrant of the breast. | MONDO:0004989 | +| MONDO:0858633 | multicentric breast carcinoma | NCIT:C94772 | MONDO:equivalentTo | Multicentric Breast Carcinoma | A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from different clones and are usually located in different quadrants of the breast. | MONDO:0004989 | +| MONDO:0858634 | early stage breast carcinoma | NCIT:C94774 | MONDO:equivalentTo | Early Stage Breast Carcinoma | Breast carcinoma that has not spread beyond the breast and the axillary lymph nodes. | MONDO:0004989 | +| MONDO:0858635 | hereditary malignant neoplasm | NCIT:C9479 | MONDO:equivalentTo | Hereditary Malignant Neoplasm | Malignant neoplasms occurring in families at a rate greater than that expected by chance and caused by germline mutations in a specific gene. | MONDO:0004992 | +| MONDO:0858637 | stage i borderline ovarian surface epithelial-stromal tumor | NCIT:C94821 | MONDO:equivalentTo | Stage I Borderline Ovarian Surface Epithelial-Stromal Tumor | Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0016093 | +| MONDO:0858638 | stage ii borderline ovarian surface epithelial-stromal tumor | NCIT:C94822 | MONDO:equivalentTo | Stage II Borderline Ovarian Surface Epithelial-Stromal Tumor | Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0016093 | +| MONDO:0858639 | stage iii borderline ovarian surface epithelial-stromal tumor | NCIT:C94824 | MONDO:equivalentTo | Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor | Stage III includes: T3, N0, M0. T3: Tumor involves one or both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | MONDO:0016093 | +| MONDO:0858640 | stage iv borderline ovarian surface epithelial-stromal tumor | NCIT:C94825 | MONDO:equivalentTo | Stage IV Borderline Ovarian Surface Epithelial-Stromal Tumor | Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.) | MONDO:0016093 | +| MONDO:0858648 | melanocytoma | NCIT:C9498 | MONDO:equivalentTo | Melanocytoma | A usually benign neoplasm that arises from the sun-exposed skin, eye, and meninges. It is composed of spindle and/or epithelioid melanocytes and melanophages. It rarely progresses to melanoma. | MONDO:0021143 | +| MONDO:0858649 | myolipoma | NCIT:C9502 | MONDO:equivalentTo | Myolipoma | A benign extrauterine tumor composed of mature adipocytes and smooth muscle cells. | MONDO:0005106 | +| MONDO:0858650 | thymoliposarcoma | NCIT:C95038 | MONDO:equivalentTo | Thymoliposarcoma | A liposarcoma that arises from the thymus gland. It is characterized by the presence of a liposarcomatous malignant infiltrate that entraps lobules of thymic tissue. | MONDO:0003601|MONDO:0002586 | +| MONDO:0858651 | ectopic cervical thymoma | NCIT:C95048 | MONDO:equivalentTo | Ectopic Cervical Thymoma | A thymoma that arises in the cervical region and is not connected with the thymus gland. | MONDO:0006456|MONDO:0021351 | +| MONDO:0858656 | intramucosal adenocarcinoma | NCIT:C95397 | MONDO:equivalentTo | Intramucosal Adenocarcinoma | A neoplastic lesion that shows morphologic evidence of invasion into the lamina propria or muscularis mucosa. There is no evidence of invasion into the submucosa. Evidence of invasion may refer to stromal invasion by single cells or clusters of cells, presence of atypical and complex glandular architectural patterns beyond those that are present in normal mucosa, desmoplasia, and/or vascular invasion. | MONDO:0004970 | +| MONDO:0858658 | pancreatic well differentiated ductal adenocarcinoma | NCIT:C95426 | MONDO:equivalentTo | Pancreatic Well Differentiated Ductal Adenocarcinoma | A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures. | MONDO:0005184 | +| MONDO:0858659 | pancreatic moderately differentiated ductal adenocarcinoma | NCIT:C95427 | MONDO:equivalentTo | Pancreatic Moderately Differentiated Ductal Adenocarcinoma | A pancreatic ductal adenocarcinoma characterized by the presence of medium-sized duct-like structures and small malignant tubular glandular structures. | MONDO:0005184 | +| MONDO:0858660 | pancreatic poorly differentiated ductal adenocarcinoma | NCIT:C95428 | MONDO:equivalentTo | Pancreatic Poorly Differentiated Ductal Adenocarcinoma | A pancreatic ductal adenocarcinoma characterized by the presence of small and irregular malignant glandular structures, solid sheets of malignant cells, and single malignant cells. | MONDO:0005184 | +| MONDO:0858661 | pancreatic mixed acinar-ductal carcinoma | NCIT:C95458 | MONDO:equivalentTo | Pancreatic Mixed Acinar-Ductal Carcinoma | A carcinoma that arises from the pancreas showing either extensive mucin accumulation and acinar neoplastic cells or a mixture of columnar or signet-ring cells and acinar neoplastic cells. | MONDO:0006047 | +| MONDO:0858662 | pancreatic mixed ductal adenocarcinoma-acinar carcinoma-neuroendocrine carcinoma | NCIT:C95460 | MONDO:equivalentTo | Pancreatic Mixed Ductal Adenocarcinoma-Acinar Carcinoma-Neuroendocrine Carcinoma | A very rare carcinoma that arises from the pancreas and is composed of ductal adenocarcinoma, acinar carcinoma, and neuroendocrine carcinoma components. | MONDO:0044727 | +| MONDO:0858663 | pancreatic hepatoid adenocarcinoma | NCIT:C95465 | MONDO:equivalentTo | Pancreatic Hepatoid Adenocarcinoma | A rare adenocarcinoma that arises from the pancreas. It is characterized by marked hepatocellular differentiation. | MONDO:0006243|MONDO:0005184 | +| MONDO:0858664 | pancreatic medullary carcinoma | NCIT:C95466 | MONDO:equivalentTo | Pancreatic Medullary Carcinoma | A pancreatic ductal adenocarcinoma characterized by poor differentiation and a prominent syncytial growth pattern. The prognosis is more favorable compared to conventional pancreatic ductal adenocarcinoma. | MONDO:0005184 | +| MONDO:0858665 | pancreatic serous adenoma | NCIT:C95470 | MONDO:equivalentTo | Pancreatic Serous Adenoma | A benign, non-metastasizing, usually cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. | MONDO:0021441|MONDO:0002810|MONDO:0036976 | +| MONDO:0858666 | pancreatic intraductal neoplasm | NCIT:C95505 | MONDO:equivalentTo | Pancreatic Intraductal Neoplasm | A group of cystic or mass-forming epithelial neoplasms that arise from the exocrine pancreas, exhibit ductal differentiation, and grow mostly within the pancreatic ducts. This group includes the pancreatic intraductal papillary mucinous neoplasms and the pancreatic intraductal tubulopapillary neoplasms. | MONDO:0024276|MONDO:0021076 | +| MONDO:0858667 | pancreatic intraductal papillary mucinous neoplasm, gastric-type | NCIT:C95508 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type | A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that are similar to gastric foveolar epithelial cells. | MONDO:0004286 | +| MONDO:0858668 | pancreatic intraductal papillary mucinous neoplasm, intestinal-type | NCIT:C95510 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type | A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form tall papillae, similar to those that are present in colonic villous adenomas. | MONDO:0004286 | +| MONDO:0858669 | pancreatic intraductal papillary mucinous neoplasm, pancreatobiliary-type | NCIT:C95512 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type | A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form thin-branching papillae and exhibit high grade dysplasia. | MONDO:0004286 | +| MONDO:0858675 | non-functioning pancreatic neuroendocrine tumor g1 | NCIT:C95585 | MONDO:equivalentTo | Non-Functioning Pancreatic Neuroendocrine Tumor G1 | A low grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. | MONDO:0004334|MONDO:0021535 | +| MONDO:0858676 | pancreatic vipoma | NCIT:C95599 | MONDO:equivalentTo | Pancreatic Vipoma | A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis. | MONDO:0023206|MONDO:0003622 | +| MONDO:0858677 | esophageal spindle cell carcinoma | NCIT:C95608 | MONDO:equivalentTo | Esophageal Spindle Cell Carcinoma | An esophageal squamous cell carcinoma characterized by the presence of a spindle-cell carcinomatous component. Crossly it has a polypoid appearance and usually arises from the middle or lower third of the esophagus. | MONDO:0005580|MONDO:0021663 | +| MONDO:0858678 | esophageal well differentiated squamous cell carcinoma | NCIT:C95610 | MONDO:equivalentTo | Esophageal Well Differentiated Squamous Cell Carcinoma | An esophageal squamous cell carcinoma characterized by the presence of prominent keratinization and low mitotic activity. | MONDO:0005580 | +| MONDO:0858679 | esophageal moderately differentiated squamous cell carcinoma | NCIT:C95611 | MONDO:equivalentTo | Esophageal Moderately Differentiated Squamous Cell Carcinoma | An esophageal squamous cell carcinoma characterized by the presence of variable morphologic characteristics that include areas of prominent and poor keratinization. | MONDO:0005580 | +| MONDO:0858680 | esophageal poorly differentiated squamous cell carcinoma | NCIT:C95612 | MONDO:equivalentTo | Esophageal Poorly Differentiated Squamous Cell Carcinoma | An esophageal squamous cell carcinoma characterized by the presence of basal-like malignant squamous cells that form nests, often associated with central necrosis. | MONDO:0005580 | +| MONDO:0858681 | esophageal mixed adenoneuroendocrine carcinoma | NCIT:C95621 | MONDO:equivalentTo | Esophageal Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the esophagus and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0019086|MONDO:0006182 | +| MONDO:0858683 | esophageal synovial sarcoma | NCIT:C95624 | MONDO:equivalentTo | Esophageal Synovial Sarcoma | A synovial sarcoma that affects the esophageal wall. | MONDO:0001204|MONDO:0010434 | +| MONDO:0858686 | gastric adenoma, gastric-type | NCIT:C95775 | MONDO:equivalentTo | Gastric Adenoma, Gastric-Type | A neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation. It includes pyloric gland adenomas and foveolar-type adenomas. | MONDO:0006221 | +| MONDO:0858689 | gastric mixed adenoneuroendocrine carcinoma | NCIT:C95886 | MONDO:equivalentTo | Gastric Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the stomach and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0006182|MONDO:0004950 | +| MONDO:0858691 | gastric schwannoma | NCIT:C95901 | MONDO:equivalentTo | Gastric Schwannoma | A rare schwannoma that arises from the stomach. It follows a benign clinical course. | MONDO:0004820|MONDO:0021449 | +| MONDO:0858693 | ampulla of vater pancreatobiliary type adenocarcinoma | NCIT:C95963 | MONDO:equivalentTo | Ampulla of Vater Pancreatobiliary Type Adenocarcinoma | An invasive adenocarcinoma that arises from the ampulla of Vater. It is characterized by the presence of malignant cells that resemble the malignant cells of the pancreatic ductal or extrahepatic bile duct carcinomas. | MONDO:0002670 | +| MONDO:0858694 | ampulla of vater hepatoid adenocarcinoma | NCIT:C95966 | MONDO:equivalentTo | Ampulla of Vater Hepatoid Adenocarcinoma | A very rare adenocarcinoma that arises from the ampulla of Vater. It is usually of the intestinal type and is characterized by the presence of malignant polygonal cells with abundant eosinophilic cytoplasm resembling hepatocytes. | MONDO:0006243|MONDO:0002670 | +| MONDO:0858695 | ampulla of vater neuroendocrine neoplasm | NCIT:C95980 | MONDO:equivalentTo | Ampulla of Vater Neuroendocrine Neoplasm | A neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and periampullary region. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO:0000921|MONDO:0024503 | +| MONDO:0858696 | ampulla of vater mixed adenoneuroendocrine carcinoma | NCIT:C95986 | MONDO:equivalentTo | Ampulla of Vater Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the ampulla of Vater and the periampullary region. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0006182|MONDO:0017590 | +| MONDO:0858702 | intestinal neuroendocrine tumor | NCIT:C96062 | MONDO:equivalentTo | Intestinal Neuroendocrine Tumor | A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the small or large intestine. | MONDO:0000386|MONDO:0002883 | +| MONDO:0858703 | small intestinal mixed adenoneuroendocrine carcinoma | NCIT:C96066 | MONDO:equivalentTo | Small Intestinal Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the small intestine and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0005522|MONDO:0006182 | +| MONDO:0858705 | colorectal neuroendocrine neoplasm | NCIT:C96152 | MONDO:equivalentTo | Colorectal Neuroendocrine Neoplasm | A neoplasm with neuroendocrine differentiation that arises from the colon or rectum. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO:0002883|MONDO:0005335 | +| MONDO:0858706 | colorectal mixed adenoneuroendocrine carcinoma | NCIT:C96158 | MONDO:equivalentTo | Colorectal Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the colon or rectum and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0006182|MONDO:0024331 | +| MONDO:0858707 | digestive system neuroendocrine tumor g2 | NCIT:C96166 | MONDO:equivalentTo | Digestive System Neuroendocrine Tumor G2 | A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the digestive system. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. | MONDO:0000386|MONDO:0006095 | +| MONDO:0858715 | serrated lesions and polyps | NCIT:C96414 | MONDO:equivalentTo | Serrated Lesions and Polyps | Polyps that arises from the large intestine and the appendix. They are characterized by the presence of serrated glands and the absence of generalized dysplasia. | MONDO:0006180 | +| MONDO:0858717 | appendix enterochromaffin cell serotonin-producing neuroendocrine tumor | NCIT:C96424 | MONDO:equivalentTo | Appendix Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor | A well differentiated neuroendocrine tumor arising from the wall of the appendix. It is characterized by the presence of neoplastic cells forming round solid nests and occasionally glandular structures. The majority of the cases are asymptomatic, and they are found incidentally in appendectomy specimens. The majority of the tumors are located in the distal end of the appendix and they are enterochromaffin-cell carcinoid tumors producing serotonin. Most cases show morphologic evidence of appendiceal wall and lymphatic vessel invasion by tumor cells. Despite the morphologic evidence of invasion, appendiceal carcinoid tumors only infrequently produce lymph node or distant metastases. | MONDO:0015066 | +| MONDO:0858721 | rectal serrated lesions and polyps | NCIT:C96465 | MONDO:equivalentTo | Rectal Serrated Lesions and Polyps | Polyps that arises from the rectum. They are characterized by the presence of serrated glands and the absence of generalized dysplasia. | MONDO:0000530|MONDO:0006164|MONDO:0021398 | +| MONDO:0858725 | colon serrated adenocarcinoma | NCIT:C96486 | MONDO:equivalentTo | Colon Serrated Adenocarcinoma | A rare, invasive colon adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. | MONDO:0006163|MONDO:0002271 | +| MONDO:0858726 | rectal serrated adenocarcinoma | NCIT:C96487 | MONDO:equivalentTo | Rectal Serrated Adenocarcinoma | A rare, invasive rectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. | MONDO:0006163|MONDO:0002169 | +| MONDO:0858729 | colorectal sarcomatoid carcinoma | NCIT:C96494 | MONDO:equivalentTo | Colorectal Sarcomatoid Carcinoma | A biphasic colorectal carcinoma with a spindle cell, sarcomatoid component. | MONDO:0024331|MONDO:0006406 | +| MONDO:0858735 | colorectal schwannoma | NCIT:C96512 | MONDO:equivalentTo | Colorectal Schwannoma | A schwannoma that arises from the colon or rectum. It may cause gastrointestinal bleeding and luminal obstruction. | MONDO:0021444|MONDO:0004820 | +| MONDO:0858736 | colorectal ganglioneuroma | NCIT:C96514 | MONDO:equivalentTo | Colorectal Ganglioneuroma | A ganglioneuroma that arises from the colon or rectum. It usually presents as a small mucosal polyp. | MONDO:0021444|MONDO:0005033 | +| MONDO:0858737 | colorectal benign granular cell tumor | NCIT:C96516 | MONDO:equivalentTo | Colorectal Benign Granular Cell Tumor | A granular cell tumor that arises from the colon or rectum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021444|MONDO:0003250 | +| MONDO:0858738 | anal canal undifferentiated carcinoma | NCIT:C96529 | MONDO:equivalentTo | Anal Canal Undifferentiated Carcinoma | A usually aggressive malignant epithelial neoplasm that arises from the anal canal. It is composed of malignant cells which do not display evidence of glandular or squamous differentiation. | MONDO:0007108|MONDO:0005617 | +| MONDO:0858741 | anal canal mixed adenoneuroendocrine carcinoma | NCIT:C96553 | MONDO:equivalentTo | Anal Canal Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the anal canal. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0006182|MONDO:0007108 | +| MONDO:0858742 | anal canal squamous papilloma | NCIT:C96554 | MONDO:equivalentTo | Anal Canal Squamous Papilloma | A benign epithelial neoplasm that arises from the anal canal. It is characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. | MONDO:0021469|MONDO:0060766|MONDO:0001825 | +| MONDO:0858743 | anal hidradenoma papilliferum | NCIT:C96699 | MONDO:equivalentTo | Anal Hidradenoma Papilliferum | A benign neoplasm arising from the perianal sweat glands. It presents as a cystic nodular lesion and is characterized by the presence of cystic and papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. | MONDO:0021469|MONDO:0003446 | +| MONDO:0858745 | hnf1alpha-inactivated hepatocellular adenoma | NCIT:C96758 | MONDO:equivalentTo | HNF1alpha-Inactivated Hepatocellular Adenoma | A hepatocellular adenoma caused by inactivating mutations of the HNF1A gene. It is characterized by the presence of lobulated contours, steatosis, and absence of inflammation or nuclear atypia. | MONDO:0018902 | +| MONDO:0858746 | beta-catenin-activated hepatocellular adenoma | NCIT:C96759 | MONDO:equivalentTo | Beta-Catenin-Activated Hepatocellular Adenoma | A hepatocellular adenoma caused by activating mutations of beta-catenin. It is characterized by the presence of nuclear atypia and absence of inflammation or steatosis. There is an increased risk of malignant transformation. | MONDO:0018902 | +| MONDO:0858747 | inflammatory hepatocellular adenoma | NCIT:C96760 | MONDO:equivalentTo | Inflammatory Hepatocellular Adenoma | A hepatocellular adenoma that occurs more often in women. It is characterized by increased levels of inflammation-associated proteins. It is usually associated with steatosis and obesity. | MONDO:0018902 | +| MONDO:0858748 | unclassified hepatocellular adenoma | NCIT:C96761 | MONDO:equivalentTo | Unclassified Hepatocellular Adenoma | A hepatocellular adenoma without distinguished morphologic characteristics or known molecular abnormalities. | MONDO:0018902 | +| MONDO:0858750 | liver neuroendocrine neoplasm | NCIT:C96786 | MONDO:equivalentTo | Liver Neuroendocrine Neoplasm | An extremely rare neoplasm with neuroendocrine differentiation that arises from the liver. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO:0024477|MONDO:0024503 | +| MONDO:0858751 | lymphocyte-rich hepatocellular carcinoma | NCIT:C96788 | MONDO:equivalentTo | Lymphocyte-Rich Hepatocellular Carcinoma | A rare type of hepatocellular carcinoma characterized by the presence of pleomorphic malignant cells that are intermixed with lymphocytes. | MONDO:0007256 | +| MONDO:0858752 | well differentiated hepatocellular carcinoma | NCIT:C96789 | MONDO:equivalentTo | Well Differentiated Hepatocellular Carcinoma | A hepatocellular carcinoma characterized by the presence of malignant cells with mild atypia and an increased nuclear/cytoplasmic ratio forming thin trabecular patterns. It is usually associated with small tumors and an early stage. | MONDO:0007256 | +| MONDO:0858753 | moderately differentiated hepatocellular carcinoma | NCIT:C96790 | MONDO:equivalentTo | Moderately Differentiated Hepatocellular Carcinoma | A hepatocellular carcinoma characterized by the presence of malignant cells with abundant eosinophilic cytoplasm forming trabecular and pseudoglandular patterns. It is usually associated with tumors that are larger than 3 cm in diameter. | MONDO:0007256 | +| MONDO:0858754 | poorly differentiated hepatocellular carcinoma | NCIT:C96791 | MONDO:equivalentTo | Poorly Differentiated Hepatocellular Carcinoma | A hepatocellular carcinoma characterized by the presence of malignant pleomorphic cells forming solid patterns. | MONDO:0007256 | +| MONDO:0858755 | liver undifferentiated carcinoma | NCIT:C96792 | MONDO:equivalentTo | Liver Undifferentiated Carcinoma | A rare carcinoma that arises from the liver. The diagnosis is made by immunohistochemical studies. Morphologic studies alone cannot establish the diagnosis of carcinoma or further subclassify the malignant tumor. | MONDO:0018531|MONDO:0005617 | +| MONDO:0858756 | small duct intrahepatic cholangiocarcinoma | NCIT:C96805 | MONDO:equivalentTo | Small Duct Intrahepatic Cholangiocarcinoma | An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts. | MONDO:0003210 | +| MONDO:0858757 | bile duct intraductal papillary neoplasm with an associated invasive carcinoma | NCIT:C96810 | MONDO:equivalentTo | Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma | An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. | MONDO:0003455|MONDO:0003193 | +| MONDO:0858758 | extrahepatic bile duct tubulopapillary adenoma | NCIT:C96811 | MONDO:equivalentTo | Extrahepatic Bile Duct Tubulopapillary Adenoma | An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of tubular and papillary growth patterns. | MONDO:0003445|MONDO:0024661 | +| MONDO:0858760 | liver synovial sarcoma | NCIT:C96845 | MONDO:equivalentTo | Liver Synovial Sarcoma | A synovial sarcoma that affects the liver. | MONDO:0002397|MONDO:0010434 | +| MONDO:0858761 | liver carcinosarcoma | NCIT:C96848 | MONDO:equivalentTo | Liver Carcinosarcoma | An aggressive carcinoma with a sarcomatous component that arises from the liver. The sarcomatous component is clonally related to the more differentiated, carcinomatous component. The prognosis is usually poor. | MONDO:0002928|MONDO:0018531 | +| MONDO:0858765 | gallbladder mucinous cystic neoplasm | NCIT:C96881 | MONDO:equivalentTo | Gallbladder Mucinous Cystic Neoplasm | An epithelial, usually multiloculated neoplasm arising from the gallbladder. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. | MONDO:0021253 | +| MONDO:0858766 | gallbladder carcinosarcoma | NCIT:C96888 | MONDO:equivalentTo | Gallbladder Carcinosarcoma | A carcinoma that arises from the gallbladder and it is characterized by the presence of a sarcomatous component. The sarcomatous component may contain osteosarcoma, chondrosarcoma, or rhabdomyosarcoma elements. | MONDO:0003220|MONDO:0002928 | +| MONDO:0858767 | gallbladder hepatoid adenocarcinoma | NCIT:C96890 | MONDO:equivalentTo | Gallbladder Hepatoid Adenocarcinoma | A rare variant of gallbladder adenocarcinoma. It is characterized by the presence of a malignant glandular epithelial infiltrate that resembles hepatocellular carcinoma. | MONDO:0006215|MONDO:0006243 | +| MONDO:0858768 | gallbladder cribriform carcinoma | NCIT:C96891 | MONDO:equivalentTo | Gallbladder Cribriform Carcinoma | A rare variant of gallbladder adenocarcinoma. It is characterized by the presence of a malignant glandular epithelial infiltrate with a cribriform growth pattern. | MONDO:0006215|MONDO:0006176 | +| MONDO:0858769 | gallbladder adenocarcinoma, biliary type | NCIT:C96915 | MONDO:equivalentTo | Gallbladder Adenocarcinoma, Biliary Type | A well or moderately differentiated adenocarcinoma that arises from the gallbladder. It is the most common type of gallbladder carcinoma and is characterized by the presence of malignant tubular glands. Intestinal differentiation may be present. | MONDO:0006215|MONDO:0005606 | +| MONDO:0858770 | gallbladder adenocarcinoma, gastric foveolar type | NCIT:C96916 | MONDO:equivalentTo | Gallbladder Adenocarcinoma, Gastric Foveolar Type | An unusual, well differentiated adenocarcinoma that arises from the gallbladder. It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei. | MONDO:0006215 | +| MONDO:0858774 | gallbladder mixed adenoneuroendocrine carcinoma | NCIT:C96927 | MONDO:equivalentTo | Gallbladder Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the gallbladder and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0003220|MONDO:0006182 | +| MONDO:0858775 | gallbladder tubular carcinoid | NCIT:C96930 | MONDO:equivalentTo | Gallbladder Tubular Carcinoid | A neuroendocrine tumor that arises from the gallbladder. It does not show the morphologic characteristics of typical carcinoid tumors (neoplastic cells forming solid nests). In contrast, the tumor cells form small discrete tubules. | MONDO:0015073 | +| MONDO:0858776 | extrahepatic bile duct adenocarcinoma, biliary type | NCIT:C96936 | MONDO:equivalentTo | Extrahepatic Bile Duct Adenocarcinoma, Biliary Type | A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant tubular glands. | MONDO:0002665|MONDO:0005606 | +| MONDO:0858777 | extrahepatic bile duct adenocarcinoma, gastric foveolar type | NCIT:C96937 | MONDO:equivalentTo | Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type | An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei. | MONDO:0002665 | +| MONDO:0858778 | extrahepatic bile duct adenocarcinoma, intestinal type | NCIT:C96938 | MONDO:equivalentTo | Extrahepatic Bile Duct Adenocarcinoma, Intestinal Type | An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells. | MONDO:0002665 | +| MONDO:0858779 | extrahepatic bile duct carcinosarcoma | NCIT:C96939 | MONDO:equivalentTo | Extrahepatic Bile Duct Carcinosarcoma | A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component. | MONDO:0003090|MONDO:0002928 | +| MONDO:0858780 | extrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma | NCIT:C96946 | MONDO:equivalentTo | Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma | A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component. | MONDO:0002665|MONDO:0004462|MONDO:0002868 | +| MONDO:0858781 | intrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma | NCIT:C96947 | MONDO:equivalentTo | Intrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma | A mucinous cystic neoplasm that arises from the intrahepatic bile ducts and it is associated with an invasive carcinomatous component. | MONDO:0002868|MONDO:0018531|MONDO:0003979 | +| MONDO:0858783 | extrahepatic bile duct lymphoma | NCIT:C96952 | MONDO:equivalentTo | Extrahepatic Bile Duct Lymphoma | A lymphoma that arises from the extrahepatic bile ducts, with the bulk of the disease located at this site. | MONDO:0021321|MONDO:0004699 | +| MONDO:0858785 | extrahepatic bile duct neuroendocrine neoplasm | NCIT:C96954 | MONDO:equivalentTo | Extrahepatic Bile Duct Neuroendocrine Neoplasm | A neoplasm with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO:0021385|MONDO:0024503 | +| MONDO:0858786 | extrahepatic bile duct mixed adenoneuroendocrine carcinoma | NCIT:C96959 | MONDO:equivalentTo | Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma | A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. | MONDO:0006182|MONDO:0003090 | +| MONDO:0858788 | invasive breast lobular carcinoma, alveolar variant | NCIT:C97049 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Alveolar Variant | A grade I invasive lobular carcinoma of the breast, characterized by the presence of round groups of neoplastic cells. | MONDO:0005051 | +| MONDO:0858789 | invasive breast lobular carcinoma, pleomorphic variant | NCIT:C97051 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Pleomorphic Variant | A grade II invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells with large and atypical nuclei. | MONDO:0005051 | +| MONDO:0858790 | invasive breast lobular carcinoma, solid variant | NCIT:C97052 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Solid Variant | A grade I invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells that form trabeculae and groups infiltrating collagen bundles. | MONDO:0005051 | +| MONDO:0858791 | invasive breast lobular carcinoma, tubulolobular variant | NCIT:C97053 | MONDO:equivalentTo | Invasive Breast Lobular Carcinoma, Tubulolobular Variant | An invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells forming small tubular structures. | MONDO:0005051 | +| MONDO:0858792 | mixed congenital mesoblastic nephroma | NCIT:C97058 | MONDO:equivalentTo | Mixed Congenital Mesoblastic Nephroma | A congenital mesoblastic nephroma characterized by the presence of classic and cellular areas. | MONDO:0017043|MONDO:0005853 | +| MONDO:0858851 | contralateral breast carcinoma | NCIT:C99390 | MONDO:equivalentTo | Contralateral Breast Carcinoma | Breast carcinoma that develops in the opposite breast of a patient with an already diagnosed primary breast carcinoma. | MONDO:0003982 | +| MONDO:0859471 | neoplastic medium-sized lymphocyte | NCIT:C37004 | MONDO:equivalentTo | Neoplastic Medium-Sized Lymphocyte | | | +| MONDO:0859472 | neoplastic b-lymphocyte | NCIT:C38640 | MONDO:equivalentTo | Neoplastic B-Lymphocyte | | | +| MONDO:0859554 | medaka melanoma | NCIT:C134572 | MONDO:equivalentTo | Medaka Melanoma | Melanoma that occurs in Oryzias latipes. | MONDO:0700196 | +| MONDO:0859555 | xiphophorus melanoma | NCIT:C134575 | MONDO:equivalentTo | Xiphophorus Melanoma | Melanoma that occurs in Xiphophorus. | MONDO:0700196 | +| MONDO:0859556 | non-human or experimental organism neoplasm | NCIT:C134576 | MONDO:equivalentTo | Non-Human or Experimental Organism Neoplasm | A neoplastic condition occurring in a non-human organism; this includes neoplasms occurring in organisms used in research settings. | | +| MONDO:0859560 | tubulostromal adenoma | NCIT:C79953 | MONDO:equivalentTo | Tubulostromal Adenoma | A benign ovarian epithelial tumor. It has been described in mice and rats and is rare in other animal species. Morphologically it is characterized by the presence of tubular structures and interstitial stroma. | | +| MONDO:0859561 | tubulostromal adenocarcinoma | NCIT:C80356 | MONDO:equivalentTo | Tubulostromal Adenocarcinoma | A malignant ovarian epithelial tumor. It has been described in mice and rats and is characterized by marked pleomorphism, atypia, and an infiltrative growth pattern. | | +| MONDO:0859730 | vaginal non-keratinizing squamous cell carcinoma | NCIT:C40244 | MONDO:equivalentTo | Vaginal Non-Keratinizing Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the vagina and is characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. | MONDO:0006490 | +| MONDO:0860042 | lymphoproliferative disease associated with primary immune disorder | NCIT:C150673 | MONDO:equivalentTo | Lymphoproliferative Disease Associated with Primary Immune Disorder | A lymphoid proliferation that arises in the setting of immune deficiency due to a primary immunodeficiency or immunoregulatory disorder. The primary immune disorders most frequently associated with lymphoproliferative disorders are ataxia-telangiectasia, Wiskott-Aldrich syndrome, common variable immunodeficiency, severe combined immunodeficiency, X-linked lymphoproliferative disease, Nijmegen breakage syndrome, hyper-IgM syndrome, and autoimmune lymphoproliferative syndrome. (WHO 2017) | | +| MONDO:0860043 | genitourinary system disorder | NCIT:C156660 | MONDO:equivalentTo | Genitourinary System Disorder | A non-neoplastic or neoplastic disorder that affects the genitourinary system. | | +| MONDO:0860044 | recurrent hiv-related lymphoproliferative disorder | NCIT:C157685 | MONDO:equivalentTo | Recurrent HIV-Related Lymphoproliferative Disorder | The reemergence of HIV-associated lymphoproliferative disorder after a period of remission. | | +| MONDO:0860045 | refractory hiv-related lymphoproliferative disorder | NCIT:C157687 | MONDO:equivalentTo | Refractory HIV-Related Lymphoproliferative Disorder | HIV-associated lymphoproliferative disorder that is resistant to treatment. | | +| MONDO:0860046 | hiv-related lymphoproliferative disorder | NCIT:C157709 | MONDO:equivalentTo | HIV-Related Lymphoproliferative Disorder | A lymphoproliferative disorder that develops in an individual with HIV infection. | | +| MONDO:0860047 | ebv-related lymphoproliferative disease with primary immunodeficiency | NCIT:C160150 | MONDO:equivalentTo | EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency | An EBV-related lymphoid proliferation that arises in the setting of immune deficiency due to a primary immunodeficiency or immunoregulatory disorder. | | +| MONDO:0860048 | recurrent ebv-related lymphoproliferative disease with primary immunodeficiency | NCIT:C160151 | MONDO:equivalentTo | Recurrent EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency | The reemergence of EBV-associated lymphoproliferative disease with primary immunodeficiency after a period of remission. | | +| MONDO:0860049 | refractory ebv-related lymphoproliferative disease with primary immunodeficiency | NCIT:C160152 | MONDO:equivalentTo | Refractory EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency | EBV-associated lymphoproliferative disease with primary immunodeficiency that is resistant to treatment. | | +| MONDO:0860050 | tonsillar disorder | NCIT:C173797 | MONDO:equivalentTo | Tonsillar Disorder | A non-neoplastic or neoplastic disorder that affects the tonsils. | | +| MONDO:0860051 | soft tissue disorder | NCIT:C27042 | MONDO:equivalentTo | Soft Tissue Disorder | A non-neoplastic or neoplastic disorder that affects the soft tissue. | | +| MONDO:0860052 | connective and soft tissue disorder | NCIT:C27574 | MONDO:equivalentTo | Connective and Soft Tissue Disorder | A non-neoplastic or neoplastic disorder that affects the connective and soft tissue. | | +| MONDO:0860053 | neck disorder | NCIT:C27648 | MONDO:equivalentTo | Neck Disorder | A non-neoplastic or neoplastic disorder that affects the anatomic structures of the neck region. This category includes disorders of the pharynx, larynx, thyroid gland, and parathyroid gland. | | +| MONDO:0860054 | peritoneal and retroperitoneal disorder | NCIT:C27664 | MONDO:equivalentTo | Peritoneal and Retroperitoneal Disorder | A non-neoplastic or neoplastic disorder that affects the peritoneum and/or retroperitoneum. | | +| MONDO:0860055 | female reproductive system precancerous condition | NCIT:C27788 | MONDO:equivalentTo | Female Reproductive System Precancerous Condition | A precancerous lesion that arises from the female reproductive system. Representative examples include atypical endometrial hyperplasia, endometrial intraepithelial neoplasia, and cervical intraepithelial neoplasia. | | +| MONDO:0860056 | tobacco use disorder | NCIT:C35074 | MONDO:equivalentTo | Tobacco Use Disorder | Any disease or disorder that is caused by the use of tobacco. | | +| MONDO:0860057 | sternal disorder | NCIT:C35744 | MONDO:equivalentTo | Sternal Disorder | A non-neoplastic or neoplastic disorder that affects the sternum. | | +| MONDO:0860058 | chest wall disorder | NCIT:C35745 | MONDO:equivalentTo | Chest Wall Disorder | A non-neoplastic or neoplastic disorder that affects the structures of the chest wall. Representative examples include infection, chest wall lipoma, and chest wall lymphoma. | | +| MONDO:0860059 | axillary disorder | NCIT:C35746 | MONDO:equivalentTo | Axillary Disorder | A non-neoplastic or neoplastic disorder that affects the structures of the axilla. Representative examples include axillary lymphadenitis, axillary lipoma, and metastatic carcinoma to the axillary lymph nodes. | | +| MONDO:0860060 | hematopoietic and lymphatic system disorder | NCIT:C35814 | MONDO:equivalentTo | Hematopoietic and Lymphatic System Disorder | A non-neoplastic or neoplastic disorder that affects the hematopoietic and lymphatic system. | | +| MONDO:0860062 | anal precancerous condition | NCIT:C7407 | MONDO:equivalentTo | Anal Precancerous Condition | | | +| MONDO:0860063 | esophageal precancerous condition | NCIT:C7423 | MONDO:equivalentTo | Esophageal Precancerous Condition | | | +| MONDO:0860064 | gastric precancerous condition | NCIT:C7424 | MONDO:equivalentTo | Gastric Precancerous Condition | | | +| MONDO:0860065 | pulmonary precancerous condition | NCIT:C7435 | MONDO:equivalentTo | Pulmonary Precancerous Condition | A premalignant pathologic process that affects the lungs. This category includes bronchial intraepithelial neoplasia and atypical adenomatous hyperplasia. | | +| MONDO:0860066 | hepatobiliary precancerous condition | NCIT:C7655 | MONDO:equivalentTo | Hepatobiliary Precancerous Condition | | | +| MONDO:0860067 | intestinal precancerous condition | NCIT:C7657 | MONDO:equivalentTo | Intestinal Precancerous Condition | | | +| MONDO:0860068 | digestive system precancerous condition | NCIT:C7659 | MONDO:equivalentTo | Digestive System Precancerous Condition | | | +| MONDO:0860069 | cutaneous precancerous condition | NCIT:C8957 | MONDO:equivalentTo | Cutaneous Precancerous Condition | | | +| MONDO:0860070 | neonatal disorder | NCIT:C98996 | MONDO:equivalentTo | Neonatal Disorder | A non-neoplastic or neoplastic disorder which occurs during the neonatal period. | | +| MONDO:0950158 | core binding factor acute myeloid leukemia | NCIT:C122688 | MONDO:equivalentTo | Core Binding Factor Acute Myeloid Leukemia | Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. | MONDO:0020078 | +| MONDO:0955884 | adult acute eosinophilic leukemia | NCIT:C7963 | MONDO:equivalentTo | Adult Acute Eosinophilic Leukemia | An acute eosinophilic leukemia occurring in adults. | MONDO:0043881 | +| MONDO:0956044 | acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13.3;q13.1); rbm15-mkl1 | NCIT:C82427 | MONDO:equivalentTo | Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 | An acute myeloid leukemia associated with t(1;22)(p13.3;q13.1) resulting in the expression of RBM15-MKL1 fusion protein. It affects infants and children and usually shows megakaryocytic maturation. | MONDO:0020078 | +| MONDO:0956704 | childhood acute eosinophilic leukemia | NCIT:C9165 | MONDO:equivalentTo | Childhood Acute Eosinophilic Leukemia | An acute eosinophilic leukemia occurring in children. | MONDO:0043881 | +| MONDO:0956756 | acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); cbfb-myh11 | NCIT:C9287 | MONDO:equivalentTo | Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | An acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil component in the bone marrow. This type of acute myeloid leukemia has a favorable prognosis. (WHO, 2001) | MONDO:0020078 | +| MONDO:0956757 | acute myeloid leukemia with t(8;21)(q22; q22.1); runx1-runx1t1 | NCIT:C9288 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 | An acute myeloid leukemia with t(8;21)(q22; q22.1) giving rise to RUNX1/RUNX1T1 fusion transcript and showing maturation in the neutrophil lineage. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. This type of AML is associated with good response to chemotherapy and high complete remission rate. | MONDO:0020078 | +| MONDO:0957380 | cic-rearranged sarcoma | NCIT:C120224 | MONDO:equivalentTo | CIC-Rearranged Sarcoma | An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. | MONDO:0858921 | +| MONDO:0957623 | smoldering systemic mastocytosis | NCIT:C115460 | MONDO:equivalentTo | Smoldering Systemic Mastocytosis | Slowly progressive systemic mastocytosis with uncertain prognosis. It is characterized by organomegaly and absence of aggressive disease. | MONDO:0016586 | +| MONDO:0957624 | indolent clonal t-cell lymphoproliferative disorder of the gastrointestinal tract | NCIT:C139021 | MONDO:equivalentTo | Indolent Clonal T-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract | A clonal T-cell lymphoproliferative disorder that can involve the mucosa in all sites of the gastrointestinal tract, but is most common in the small intestine and colon. The lymphoid cells infiltrate the lamina propria but usually do not show invasion of the epithelium. The clinical course is indolent, but most patients do not respond to conventional chemotherapy. A subset of cases progress to a higher-grade T-cell lymphoma with spread beyond the gastrointestinal tract. (WHO 2017) | MONDO:0005169 | +| MONDO:0957625 | penile adenosquamous carcinoma | NCIT:C159248 | MONDO:equivalentTo | Penile Adenosquamous Carcinoma | An extremely rare carcinoma that arises from the penis and is characterized by the presence of glandular and squamous components. | MONDO:0006360|MONDO:0006074 | +| MONDO:0957626 | seminal vesicle soft tissue neoplasm | NCIT:C161637 | MONDO:equivalentTo | Seminal Vesicle Soft Tissue Neoplasm | A mesenchymal neoplasm that arises from the seminal vesicle. | MONDO:0002790|MONDO:0006424 | +| MONDO:0957627 | hepatocellular malignant neoplasm, not otherwise specified | NCIT:C161838 | MONDO:equivalentTo | Hepatocellular Malignant Neoplasm, Not Otherwise Specified | A rare childhood malignant liver neoplasm with overlapping features of hepatoblastoma and hepatocellular carcinoma. | MONDO:0018666 | +| MONDO:0957628 | epididymal melanotic neuroectodermal tumor | NCIT:C162488 | MONDO:equivalentTo | Epididymal Melanotic Neuroectodermal Tumor | A rare neoplasm that arises from the epididymis and is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It usually occurs in infants and has a benign clinical course. | MONDO:0002072|MONDO:0021473 | +| MONDO:0957629 | systemic mastocytosis with an associated germ cell tumor | NCIT:C186735 | MONDO:equivalentTo | Systemic Mastocytosis with an Associated Germ Cell Tumor | A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a co-occurring germ cell tumor. | MONDO:0016586 | +| MONDO:0957630 | estrogen receptor-positive breast carcinoma | NCIT:C188366 | MONDO:equivalentTo | Estrogen Receptor-Positive Breast Carcinoma | Breast adenocarcinoma that is positive for estrogen receptors. | | +| MONDO:0957631 | childhood myelodysplastic syndrome with excess blasts | NCIT:C188449 | MONDO:equivalentTo | Childhood Myelodysplastic Syndrome with Excess Blasts | Myelodysplastic syndrome with excess blasts that occurs during childhood. | MONDO:0044873|MONDO:0019454 | +| MONDO:0957632 | childhood acute myeloid leukemia with t(9;11)(p21.3;q23.3); mllt3-kmt2a | NCIT:C188451 | MONDO:equivalentTo | Childhood Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A | An acute myeloid leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A occurring in children. | MONDO:0004996|MONDO:0020317 | +| MONDO:0957633 | lung small cell carcinoma neuroendocrine subtype | NCIT:C188753 | MONDO:equivalentTo | Lung Small Cell Carcinoma Neuroendocrine Subtype | A header term that refers to the classification of lung small cell carcinoma based on the expression pattern of different neuroendocrine markers such as chromogranin A, synaptophysin, neural cell adhesion molecule 1, and gastrin-releasing peptide. | MONDO:0008433 | +| MONDO:0957634 | lung small cell carcinoma molecular subtypes | NCIT:C188756 | MONDO:equivalentTo | Lung Small Cell Carcinoma Molecular Subtypes | A header term that refers to the molecular classification of lung small cell carcinoma according to the relative expression of four transcription factors: achaete-scute homolog 1 (ASCL1), neurogenic differentiation factor 1 (NEUROD1), yes-associated protein 1 (YAP1), and POU class 2 homeobox 3 (POU2F3). | MONDO:0008433 | +| MONDO:0957635 | adult ganglioneuroma | NCIT:C188947 | MONDO:equivalentTo | Adult Ganglioneuroma | A ganglioneuroma that occurs in adults. | MONDO:0005033 | +| MONDO:0957636 | childhood nervous system neoplasm | NCIT:C188950 | MONDO:equivalentTo | Childhood Nervous System Neoplasm | A neoplasm that affects the nervous system during childhood. | MONDO:0021079|MONDO:0021248 | +| MONDO:0957637 | choroidal ganglioneuroma | NCIT:C188956 | MONDO:equivalentTo | Choroidal Ganglioneuroma | A rare ganglioneuroma that arises from the choroid. | MONDO:0021487|MONDO:0005033 | +| MONDO:0957638 | childhood connective and soft tissue neoplasm | NCIT:C188963 | MONDO:equivalentTo | Childhood Connective and Soft Tissue Neoplasm | A soft tissue or bone neoplasm that occurs during childhood. | MONDO:0021079|MONDO:0044334 | +| MONDO:0957639 | childhood low grade fibromyxoid sarcoma | NCIT:C188970 | MONDO:equivalentTo | Childhood Low Grade Fibromyxoid Sarcoma | A low-grade fibromyxoid sarcoma that occurs during childhood. | MONDO:0006272|MONDO:0002678 | +| MONDO:0957640 | extragonadal teratoma | NCIT:C189045 | MONDO:equivalentTo | Extragonadal Teratoma | A teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. | MONDO:0018201|MONDO:0002601 | +| MONDO:0957641 | testicular teratoma, postpubertal-type | NCIT:C189057 | MONDO:equivalentTo | Testicular Teratoma, Postpubertal-Type | A testicular teratoma associated with germ cell neoplasia in situ and chromosome 12p amplification. | MONDO:0018193|MONDO:0003510 | +| MONDO:0957642 | kidney carcinoma molecular subtypes | NCIT:C189241 | MONDO:equivalentTo | Kidney Carcinoma Molecular Subtypes | A term that refers to the classification of kidney carcinomas according to their molecular characteristics. | MONDO:0005206 | +| MONDO:0957644 | ovarian sertoli-leydig cell tumor molecular subtypes | NCIT:C189319 | MONDO:equivalentTo | Ovarian Sertoli-Leydig Cell Tumor Molecular Subtypes | A term that refers to the classification of ovarian Sertoli-Leydig cell tumors according to their molecular characteristics. | MONDO:0036595 | +| MONDO:0957645 | mullerian papilloma | NCIT:C189336 | MONDO:equivalentTo | Mullerian Papilloma | A benign papillary neoplasm that arises from the cervix or vagina. It mostly occurs in prepubertal girls and rarely in adolescents or young adults. It is characterized by the presence of a fibrovascular core covered by cuboidal or columnar epithelial cells. Squamous metaplasia may be present. Cytologic atypia is absent. | MONDO:0021078 | +| MONDO:0957646 | childhood breast neoplasm | NCIT:C189338 | MONDO:equivalentTo | Childhood Breast Neoplasm | A neoplasm that affects the breast and occurs during childhood. | MONDO:0021079|MONDO:0021100 | +| MONDO:0957647 | childhood digestive system neoplasm | NCIT:C189869 | MONDO:equivalentTo | Childhood Digestive System Neoplasm | A neoplasm that affects any part of the digestive system and occurs during childhood. | MONDO:0021079|MONDO:0021223 | +| MONDO:0957648 | epithelial hepatoblastoma | NCIT:C189923 | MONDO:equivalentTo | Epithelial Hepatoblastoma | A subtype of hepatoblastoma characterized by the presence of an epithelial component and absence of mesenchymal elements. It includes hepatoblastoma with pure fetal epithelial differentiation, hepatoblastoma with combined fetal and embryonal epithelial differentiation, macrotrabecular hepatoblastoma, and small cell undifferentiated hepatoblastoma (small cell undifferentiated hepatoblastoma with loss of INI1 nuclear staining should be classified as rhabdoid tumor). | MONDO:0018666 | +| MONDO:0957649 | non-teratoid hepatoblastoma | NCIT:C189926 | MONDO:equivalentTo | Non-Teratoid Hepatoblastoma | A mixed epithelial and mesenchymal hepatoblastoma characterized by the absence of heterologous elements, muscle, cartilage or osteoid. | MONDO:0003650 | +| MONDO:0957650 | hepatoblastoma by pretext stage | NCIT:C189927 | MONDO:equivalentTo | Hepatoblastoma by PRETEXT Stage | A term that refers to the staging of hepatoblastoma, following the rules of the PRETEXT (pre-treatment extent of tumor) system. | MONDO:0018666 | +| MONDO:0957651 | hepatoblastoma by postsurgical stage | NCIT:C189929 | MONDO:equivalentTo | Hepatoblastoma by Postsurgical Stage | A term that refers to the staging of hepatoblastoma according to post-operative findings. | MONDO:0018666 | +| MONDO:0957652 | childhood fibrolamellar carcinoma | NCIT:C189932 | MONDO:equivalentTo | Childhood Fibrolamellar Carcinoma | A fibrolamellar variant of hepatocellular carcinoma that occurs during childhood. | MONDO:0018055|MONDO:0006210 | +| MONDO:0957653 | childhood endocrine neoplasm | NCIT:C190056 | MONDO:equivalentTo | Childhood Endocrine Neoplasm | A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ during childhood. | MONDO:0021079|MONDO:0002082 | +| MONDO:0957654 | childhood thoracic neoplasm | NCIT:C190090 | MONDO:equivalentTo | Childhood Thoracic Neoplasm | A benign or malignant neoplasm that involves the tissues of the thorax during childhood. | MONDO:0021079|MONDO:0021350 | +| MONDO:0957655 | childhood head and neck neoplasm | NCIT:C190119 | MONDO:equivalentTo | Childhood Head and Neck Neoplasm | A benign or malignant neoplasm that affects the anatomic structures of the head and neck region and occurs during childhood. | MONDO:0005586|MONDO:0021079 | +| MONDO:0957656 | childhood skin neoplasm | NCIT:C190123 | MONDO:equivalentTo | Childhood Skin Neoplasm | A benign, intermediate, or malignant neoplasm that affects the skin and occurs during childhood. | MONDO:0002531|MONDO:0021079 | +| MONDO:0957657 | childhood carcinoma | NCIT:C190275 | MONDO:equivalentTo | Childhood Carcinoma | A rare carcinoma that occurs during childhood. | MONDO:0004993|MONDO:0036491 | +| MONDO:0957658 | refractory t/nk-cell lymphoproliferative disorder | NCIT:C190397 | MONDO:equivalentTo | Refractory T/NK-Cell Lymphoproliferative Disorder | T/NK-cell lymphoproliferative disorder that is resistant to treatment. | | +| MONDO:0957659 | recurrent t/nk-cell lymphoproliferative disorder | NCIT:C190398 | MONDO:equivalentTo | Recurrent T/NK-Cell Lymphoproliferative Disorder | The reemergence of T/NK-cell lymphoproliferative disorder after a period of remission. | | +| MONDO:0957660 | ebv-related t/nk-cell lymphoproliferative disorder | NCIT:C190402 | MONDO:equivalentTo | EBV-Related T/NK-Cell Lymphoproliferative Disorder | T/NK-cell lymphoproliferative disorder that is associated with Epstein-Barr virus. | | +| MONDO:0957661 | childhood benign neoplasm | NCIT:C190573 | MONDO:equivalentTo | Childhood Benign Neoplasm | A neoplasm that occurs during childhood and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0021079|MONDO:0005165 | +| MONDO:0957662 | benign liver neoplasm | NCIT:C190592 | MONDO:equivalentTo | Benign Liver Neoplasm | A neoplasm that arises from the liver and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0024477|MONDO:0000385 | +| MONDO:0957663 | high grade endometrial carcinoma | NCIT:C190680 | MONDO:equivalentTo | High Grade Endometrial Carcinoma | A group of aggressive endometrial carcinomas with high-grade histological features. It includes high grade endometrial endometrioid adenocarcinoma, endometrial clear cell adenocarcinoma, endometrial serous adenocarcinoma, and endometrial undifferentiated carcinoma. | MONDO:0002447 | +| MONDO:0957664 | iridociliary melanoma | NCIT:C190746 | MONDO:equivalentTo | Iridociliary Melanoma | Melanoma that affects both the iris and ciliary body. | MONDO:0006486 | +| MONDO:0957665 | b acute lymphoblastic leukemia associated with down syndrome | NCIT:C190847 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia Associated with Down Syndrome | A B-acute lymphoblastic leukemia that occurs in patients with Down syndrome. It usually affects young children, but it can occur in adults as well. It has an unfavorable clinical outcome. Cases of T-acute lymphoblastic leukemia in patients with Down syndrome have not been reported. | MONDO:0020511 | +| MONDO:0957666 | androgen receptor-positive breast carcinoma | NCIT:C190851 | MONDO:equivalentTo | Androgen Receptor-Positive Breast Carcinoma | Breast carcinoma that is positive for androgen receptors. | | +| MONDO:0957667 | b lymphoblastic leukemia/lymphoma with etv6-runx1-like features | NCIT:C190956 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1-Like Features | B lymphoblastic leukemia/lymphoma characterized by a gene-expression profile similar to that of ETV6-RUNX1-positive B lymphoblastic leukemia/lymphoma, absence of the pathognomonic ETV6-RUNX1 rearrangement, and rearrangements or deletions of ETV6 and IKZF1 genes. | MONDO:0035605 | +| MONDO:0957668 | renal cell carcinoma, not otherwise specified | NCIT:C191370 | MONDO:equivalentTo | Renal Cell Carcinoma, Not Otherwise Specified | A renal cell carcinoma that cannot be classified into one of the established subtypes of renal cell carcinoma. | MONDO:0005549 | +| MONDO:0957669 | kidney classic angiomyolipoma | NCIT:C191391 | MONDO:equivalentTo | Kidney Classic Angiomyolipoma | A benign mesenchymal tumor that arises from the kidney and is composed of mature adipose tissue, thick-walled blood vessels, and epithelioid and spindle smooth muscle cells. | MONDO:0002513|MONDO:0004555 | +| MONDO:0957670 | secondary plasma cell leukemia | NCIT:C191432 | MONDO:equivalentTo | Secondary Plasma Cell Leukemia | Transformation of plasma cell myeloma to plasma cell leukemia. | MONDO:0018689|MONDO:0024881 | +| MONDO:0957671 | papillary urothelial neoplasm of low malignant potential | NCIT:C191672 | MONDO:equivalentTo | Papillary Urothelial Neoplasm of Low Malignant Potential | A papillary neoplasm of the urothelium. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas. | MONDO:0003755|MONDO:0003443 | +| MONDO:0957672 | invasive lymphoepithelioma-like urothelial carcinoma | NCIT:C191678 | MONDO:equivalentTo | Invasive Lymphoepithelioma-Like Urothelial Carcinoma | Invasive urothelial carcinoma with lymphoepithelioma-like features. | MONDO:0003572|MONDO:0040678 | +| MONDO:0957673 | invasive giant cell urothelial carcinoma | NCIT:C191679 | MONDO:equivalentTo | Invasive Giant Cell Urothelial Carcinoma | An invasive urothelial carcinoma characterized by the presence of giant cells. | MONDO:0040678 | +| MONDO:0957674 | invasive urothelial carcinoma with glandular differentiation | NCIT:C191680 | MONDO:equivalentTo | Invasive Urothelial Carcinoma with Glandular Differentiation | An invasive urothelial carcinoma that exhibits glandular differentiation. | MONDO:0040678 | +| MONDO:0957675 | invasive urothelial carcinoma with squamous differentiation | NCIT:C191681 | MONDO:equivalentTo | Invasive Urothelial Carcinoma with Squamous Differentiation | An invasive urothelial carcinoma that exhibits squamous differentiation. | MONDO:0040678 | +| MONDO:0957676 | invasive urothelial carcinoma with trophoblastic differentiation | NCIT:C191682 | MONDO:equivalentTo | Invasive Urothelial Carcinoma with Trophoblastic Differentiation | An invasive urothelial carcinoma characterized by the presence of trophoblastic differentiation. | MONDO:0040678 | +| MONDO:0957677 | invasive clear cell (glycogen-rich) urothelial carcinoma | NCIT:C191683 | MONDO:equivalentTo | Invasive Clear Cell (Glycogen-Rich) Urothelial Carcinoma | An invasive urothelial carcinoma characterized by the presence of clear (glycogen-rich) cells. | MONDO:0040678 | +| MONDO:0957678 | invasive lipid-rich urothelial carcinoma | NCIT:C191684 | MONDO:equivalentTo | Invasive Lipid-Rich Urothelial Carcinoma | Invasive urothelial carcinoma characterized by the presence of lipid laden tumor cells. | MONDO:0040678 | +| MONDO:0957679 | invasive microcystic urothelial carcinoma | NCIT:C191685 | MONDO:equivalentTo | Invasive Microcystic Urothelial Carcinoma | Invasive urothelial carcinoma characterized by microcysts formation. | MONDO:0040678 | +| MONDO:0957680 | invasive nested urothelial carcinoma | NCIT:C191687 | MONDO:equivalentTo | Invasive Nested Urothelial Carcinoma | Invasive urothelial carcinoma characterized by a nested growth pattern. | MONDO:0040678 | +| MONDO:0957681 | invasive plasmacytoid urothelial carcinoma | NCIT:C191688 | MONDO:equivalentTo | Invasive Plasmacytoid Urothelial Carcinoma | Invasive urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features. | MONDO:0040678 | +| MONDO:0957682 | invasive large nested urothelial carcinoma | NCIT:C191725 | MONDO:equivalentTo | Invasive Large Nested Urothelial Carcinoma | A rare invasive urothelial carcinoma characterized by the presence of medium to large nests of malignant cells. | MONDO:0040678 | +| MONDO:0957683 | invasive tubular urothelial carcinoma | NCIT:C191728 | MONDO:equivalentTo | Invasive Tubular Urothelial Carcinoma | Invasive urothelial carcinoma characterized by the presence of a tubular growth pattern. | MONDO:0040678 | +| MONDO:0957684 | invasive poorly differentiated urothelial carcinoma | NCIT:C191730 | MONDO:equivalentTo | Invasive Poorly Differentiated Urothelial Carcinoma | Invasive urothelial carcinoma that lacks the morphological features indicating urothelial origin. Immunohistochemical studies are required to demonstrate the urothelial lineage in these tumors. | MONDO:0040678 | +| MONDO:0957685 | invasive conventional urothelial carcinoma | NCIT:C191734 | MONDO:equivalentTo | Invasive Conventional Urothelial Carcinoma | Invasive urothelial carcinoma characterized by the presence of malignant cells forming trabeculae, cords, sheets, and nests. Individual malignant cells are also present. | MONDO:0040678 | +| MONDO:0957686 | prostatic intraepithelial neoplasia-like adenocarcinoma | NCIT:C191961 | MONDO:equivalentTo | Prostatic Intraepithelial Neoplasia-Like Adenocarcinoma | A rare subtype of prostate acinar adenocarcinoma that morphologically resembles high-grade prostatic intraepithelial neoplasia. It is characterized by the presence of large malignant glands lined with pseudostratified epithelium. It is graded as Gleason score 3+3=6. | MONDO:0002493 | +| MONDO:0957687 | extrapulmonary neuroendocrine carcinoma | NCIT:C191977 | MONDO:equivalentTo | Extrapulmonary Neuroendocrine Carcinoma | A small or large cell neuroendocrine carcinoma that arises from an anatomic site other than the lung. | MONDO:0002120 | +| MONDO:0957688 | intratubular embryonal carcinoma | NCIT:C192096 | MONDO:equivalentTo | Intratubular Embryonal Carcinoma | Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by embryonal carcinoma cells. Central necrosis and calcifications are often present. | MONDO:0006446|MONDO:0004520 | +| MONDO:0957689 | testicular yolk sac tumor, postpubertal-type | NCIT:C192099 | MONDO:equivalentTo | Testicular Yolk Sac Tumor, Postpubertal-Type | Testicular yolk sac tumor that is associated with germ cell neoplasia in situ and usually occurs as a component of mixed germ cell tumor. Pure postpubertal-type testicular yolk sac tumor is exceedingly rare. | MONDO:0003402 | +| MONDO:0957690 | cystic trophoblastic tumor | NCIT:C192105 | MONDO:equivalentTo | Cystic Trophoblastic Tumor | A rare trophoblastic neoplasm that arises in metastatic sites of testicular mixed germ cell tumors following chemotherapy, or is part of treated or untreated testicular mixed germ cell tumors, or is secondary to either chemotherapy-induced or spontaneous regression of testicular choriocarcinoma. It has also been described in central nervous system post-chemotherapy primary germ cell tumors. It is characterized by the presence of cysts lined by squamoid trophoblastic cells. The cysts are often compressed surrounded by other germ cell components. | MONDO:0021077|MONDO:0002872 | +| MONDO:0957691 | testicular teratoma, prepubertal-type | NCIT:C192107 | MONDO:equivalentTo | Testicular Teratoma, Prepubertal-Type | A testicular teratoma that is not associated with germ cell neoplasia in situ or chromosome 12p amplification. | MONDO:0018193 | +| MONDO:0957692 | gonadal myoid stromal tumor | NCIT:C192116 | MONDO:equivalentTo | Gonadal Myoid Stromal Tumor | A rare, benign, well-circumscribed tumor that arises from the testis. It is characterized by the presence of fascicles of spindle cells showing muscle cell differentiation. It lacks sex cord differentiation. | MONDO:0021447 | +| MONDO:0957693 | penile squamous cell carcinoma, not otherwise specified | NCIT:C192222 | MONDO:equivalentTo | Penile Squamous Cell Carcinoma, Not Otherwise Specified | A penile squamous cell carcinoma characterized by the absence of special morphologic features and lack of information on p16 immunohistochemistry and human papilloma virus testing status. | MONDO:0018352 | +| MONDO:0957694 | penile mucoepidermoid carcinoma | NCIT:C192223 | MONDO:equivalentTo | Penile Mucoepidermoid Carcinoma | An extremely rare carcinoma that arises from the penis and is characterized by the presence of mucinous and squamous components. | MONDO:0006360|MONDO:0003036 | +| MONDO:0957695 | urinary tract neoplasm | NCIT:C192666 | MONDO:equivalentTo | Urinary Tract Neoplasm | A benign or malignant, primary or metastatic neoplasm involving the urinary tract (renal pelvis, ureter, bladder, and urethra). | MONDO:0021066 | +| MONDO:0957696 | benign cranial nerve neoplasm | NCIT:C193416 | MONDO:equivalentTo | Benign Cranial Nerve Neoplasm | A neoplasm that arises from a cranial nerve and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO:0002633|MONDO:0000648 | +| MONDO:0957697 | benign spinal meningioma | NCIT:C193417 | MONDO:equivalentTo | Benign Spinal Meningioma | A grade I, slowly growing meningioma that arises from the spinal meninges. | MONDO:0003054|MONDO:0001279 | +| MONDO:0957698 | rectal gastrointestinal stromal tumor | NCIT:C193420 | MONDO:equivalentTo | Rectal Gastrointestinal Stromal Tumor | Gastrointestinal stromal tumor that arises from the rectum. | MONDO:0002165|MONDO:0006159 | +| MONDO:0957699 | malignant ileal neoplasm | NCIT:C193425 | MONDO:equivalentTo | Malignant Ileal Neoplasm | A primary or metastatic malignant neoplasm involving the ileum. | MONDO:0006801|MONDO:0000956 | +| MONDO:0957700 | refractory malignant phyllodes tumor | NCIT:C193453 | MONDO:equivalentTo | Refractory Malignant Phyllodes Tumor | Malignant phyllodes tumor that is resistant to treatment. | MONDO:0037003|MONDO:0036501 | +| MONDO:0957701 | childhood cancer stage by toronto guidelines v2 | NCIT:C198027 | MONDO:equivalentTo | Childhood Cancer Stage by Toronto Guidelines v2 | A term that refers to the staging of childhood cancers following the rules of the Toronto guidelines v2, 2019. The guidelines were developed to address the lack of consistent information on childhood cancer staging in population registries and are not intended to replace staging systems in clinical use. They include a two-tiered approach that provides less detailed criteria for registries with limited resources and/or limited data access (Tier 1) and more detailed criteria for better-resourced registries (Tier 2). They apply to acute lymphoblastic leukemia, Hodgkin lymphoma, non-Hodgkin lymphoma, neuroblastoma, renal malignant tumors except renal cell carcinoma, rhabdomyosarcoma, non-rhabdomyosarcoma soft tissue sarcoma, malignant bone tumors, retinoblastoma, hepatoblastoma, testicular germ cell tumors, ovarian germ cell tumors, astrocytoma, medulloblastoma and ependymoma. The following changes were noted to the original classification (v1, 2014): a staging system was no longer considered appropriate for acute myeloid leukemia; all renal tumors, with the exception of renal cell carcinomas, should use the endorsed staging systems for Wilms tumor; staging systems for osteosarcoma and Ewing sarcoma were combined into a single recommendation for all malignant bone tumors; a staging system was endorsed for astrocytomas; the S category (serum tumor markers) was confirmed as an integral part of TNM staging for testicular cancer in Tier 2 recommendations; and PRETEXT number was added to Tier 2 recommendations for hepatoblastoma. (adapted from Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.) | MONDO:0006517 | +| MONDO:0957702 | myeloproliferative neoplasm, bcr-abl1 negative | NCIT:C198555 | MONDO:equivalentTo | Myeloproliferative Neoplasm, BCR-ABL1 Negative | A myeloproliferative neoplasm characterized by the absence of Philadelphia chromosome and BCR-ABL1 fusion gene expression. This group includes polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | MONDO:0020076 | +| MONDO:0957703 | myeloid/lymphoid neoplasms with flt3 rearrangement | NCIT:C198559 | MONDO:equivalentTo | Myeloid/Lymphoid Neoplasms with FLT3 Rearrangement | Hematologic neoplasms characterized by the rearrangement of the FLT3 gene, most often resulting in the formation of t(12;13)(p13.2;q12.2)/ETV6-FLT3 fusion transcripts. Patients usually present with T-ALL or myeloid sarcoma. | MONDO:0015688 | +| MONDO:0957704 | myeloid/lymphoid neoplasms with etv6-abl1 | NCIT:C198565 | MONDO:equivalentTo | Myeloid/Lymphoid Neoplasms with ETV6-ABL1 | Hematologic neoplasms characterized by t(9;12)(q34.1;p13.2) that results in ETV6-ABL1 gene fusion. They have clinicopathological features of chronic myeloid leukemia with frequent eosinophilia. | MONDO:0015688 | +| MONDO:0957705 | bone marrow mastocytosis | NCIT:C198573 | MONDO:equivalentTo | Bone Marrow Mastocytosis | A variant of indolent systemic mastocytosis that affects predominantly older males. It is characterized by a limited degree of bone marrow infiltration by clonal mast cells and an absence of skin involvement. The serum tryptase levels are normal or slightly elevated. | MONDO:0020331 | +| MONDO:0957706 | clonal monocytosis of undetermined significance | NCIT:C198580 | MONDO:equivalentTo | Clonal Monocytosis of Undetermined Significance | A myelodysplastic/myeloproliferative neoplasm characterized by the presence of persistent monocytosis, presence of at least one myeloid neoplasm-associated mutation, absence of significant dysplasia or increased blasts in the bone marrow, absence of morphologic findings suggestive of chronic myelomonocytic leukemia in the bone marrow, and absence of history of a reactive condition that would explain the persistent monocytosis. | MONDO:0006311 | +| MONDO:0957707 | myelodysplastic/myeloproliferative neoplasm with sf3b1 mutation and thrombocytosis | NCIT:C198581 | MONDO:equivalentTo | Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis | A myelodysplastic/myeloproliferative neoplasm characterized by thrombocytosis, anemia, blasts less than 5% in bone marrow and less than 1% in peripheral blood, presence of SF3B1 gene mutation, absence of BCR/ABL fusion, absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, and no history of other myelodysplastic/myeloproliferative neoplasms or myeloproliferative neoplasms and myelodysplastic syndromes. | MONDO:0006311 | +| MONDO:0957708 | clonal cytopenia with monocytosis of undetermined significance | NCIT:C198582 | MONDO:equivalentTo | Clonal Cytopenia with Monocytosis of Undetermined Significance | A myelodysplastic/myeloproliferative neoplasm that fulfills the diagnostic criteria of clonal monocytosis of undetermined significance and is associated with cytopenia. | MONDO:0006311 | +| MONDO:0957709 | myeloid neoplasm with mutated tp53 | NCIT:C198593 | MONDO:equivalentTo | Myeloid Neoplasm with Mutated TP53 | Myeloid neoplasm characterized by the presence of TP53 gene mutations. This category includes myelodysplastic syndrome, myelodysplastic syndrome/acute myeloid leukemia, and acute myeloid leukemia with mutated TP53. | MONDO:0005170 | +| MONDO:0957710 | myelodysplastic syndrome/acute myeloid leukemia, not otherwise specified | NCIT:C198597 | MONDO:equivalentTo | Myelodysplastic Syndrome/Acute Myeloid Leukemia, Not Otherwise Specified | Myelodysplastic syndrome/acute myeloid leukemia in which there is no information on myelodysplasia-related gene mutations and cytogenetic abnormalities. | MONDO:0015041 | +| MONDO:0957711 | pediatric and/or germline mutation-associated myeloid disorders | NCIT:C198663 | MONDO:equivalentTo | Pediatric and/or Germline Mutation-Associated Myeloid Disorders | A group of myeloid disorders that occur in childhood and/or are associated with germline gene mutations. It includes juvenile myelomonocytic leukemia, juvenile myelomonocytic leukemia-like neoplasm, refractory cytopenia of childhood, Noonan syndrome-associated myeloproliferative disorder, and myeloid neoplasm with germline predisposition. | MONDO:0005170 | +| MONDO:0957712 | b acute lymphoblastic leukemia with germline predisposition | NCIT:C198683 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia with Germline Predisposition | B-acute lymphoblastic leukemia that results from germline gene mutations. This category includes B-acute lymphoblastic leukemia with germline PAX5 mutation and B-acute lymphoblastic leukemia with germline IKZF1 mutation. | MONDO:0020511 | +| MONDO:0957713 | acute myeloid leukemia with stat3-rara | NCIT:C198827 | MONDO:equivalentTo | Acute Myeloid Leukemia with STAT3-RARA | Acute myeloid leukemia with variant RARA rearrangement and expression of STAT3-RARA fusion protein. | MONDO:0100375 | +| MONDO:0957714 | acute myeloid leukemia with t(1;17)(q42.3;q21.2); irf2bp2-rara | NCIT:C198831 | MONDO:equivalentTo | Acute Myeloid Leukemia with t(1;17)(q42.3;q21.2); IRF2BP2-RARA | Acute myeloid leukemia with variant RARA rearrangement associated with t(1;17)(q42.3;q21.2) resulting in IRF2BP2-RARA fusion protein expression. | MONDO:0100375 | +| MONDO:0957715 | acute myeloid leukemia with tbl1xr1-rara | NCIT:C198834 | MONDO:equivalentTo | Acute Myeloid Leukemia with TBL1XR1-RARA | Acute myeloid leukemia with variant RARA rearrangement and expression of TBL1XR1-RARA fusion protein. | MONDO:0100375 | +| MONDO:0957716 | acute myeloid leukemia with fip1l1-rara | NCIT:C198839 | MONDO:equivalentTo | Acute Myeloid Leukemia with FIP1L1-RARA | Acute myeloid leukemia with variant RARA rearrangement and expression of FIP1L1-RARA fusion protein. | MONDO:0100375 | +| MONDO:0957717 | acute myeloid leukemia with bcor-rara | NCIT:C198841 | MONDO:equivalentTo | Acute Myeloid Leukemia with BCOR-RARA | Acute myeloid leukemia with variant RARA rearrangement and expression of BCOR-RARA fusion protein. | MONDO:0100375 | +| MONDO:0957718 | acute myeloid leukemia with in-frame bzip cebpa mutation | NCIT:C198891 | MONDO:equivalentTo | Acute Myeloid Leukemia with In-Frame bZIP CEBPA Mutation | An acute myeloid leukemia characterized by the presence of CEBPA bZIP domain mutation. It is associated with a favorable clinical outcome. | MONDO:0017894 | +| MONDO:0957719 | acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities | NCIT:C198957 | MONDO:equivalentTo | Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities | A group of acute myeloid leukemias classified based on specific karyotype findings. | MONDO:0100409 | +| MONDO:0957720 | low grade endometrioid adenocarcinoma | NCIT:C199146 | MONDO:equivalentTo | Low Grade Endometrioid Adenocarcinoma | Endometrioid adenocarcinoma exhibiting 50% or less solid non-glandular, non-squamous growth. | MONDO:0005026 | +| MONDO:0957721 | high grade endometrioid adenocarcinoma | NCIT:C199149 | MONDO:equivalentTo | High Grade Endometrioid Adenocarcinoma | Endometrioid adenocarcinoma exhibiting more than 50% solid non-glandular, non-squamous growth. | MONDO:0005026 | +| MONDO:0957722 | early t precursor lymphoblastic leukemia/lymphoma | NCIT:C199170 | MONDO:equivalentTo | Early T Precursor Lymphoblastic Leukemia/Lymphoma | T lymphoblastic leukemia/lymphoma in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. | MONDO:0003537 | +| MONDO:0957724 | early t precursor acute lymphoblastic leukemia, not otherwise specified | NCIT:C199172 | MONDO:equivalentTo | Early T Precursor Acute Lymphoblastic Leukemia, Not Otherwise Specified | Early T precursor acute lymphoblastic leukemia in which further genetic/molecular characterization is not available. | MONDO:0100291 | +| MONDO:0957725 | t lymphoblastic leukemia/lymphoma, not otherwise specified | NCIT:C199173 | MONDO:equivalentTo | T Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified | T-lymphoblastic leukemia/lymphoma in which further genetic/molecular characterization is not available. | MONDO:0003537 | +| MONDO:0957726 | b acute lymphoblastic leukemia with recurrent genetic abnormalities | NCIT:C199202 | MONDO:equivalentTo | B Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities | B-acute lymphoblastic leukemias characterized by the presence of recurring cytogenetic and/or molecular abnormalities. | MONDO:0020511|MONDO:0035605 | +| MONDO:0957727 | b lymphoblastic leukemia/lymphoma with myc rearrangement | NCIT:C199231 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with MYC Rearrangement | B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. The prognosis is poor. | MONDO:0035605 | +| MONDO:0957728 | primary cold agglutinin disease | NCIT:C199387 | MONDO:equivalentTo | Primary Cold Agglutinin Disease | A clonal B-cell lymphoproliferative disease of the bone marrow that results in autoimmune hemolytic anemia. It is distinct from lymphoplasmacytic lymphoma and IgM monoclonal gammopathy of undetermined significance. It lacks MYD88 gene mutation and is associated with trisomies of chromosomes 3, 12, and 18, and mutations in KMT2D and CARD11 genes. | MONDO:0004949 | +| MONDO:0957729 | multiple myeloma with recurrent genetic abnormalities | NCIT:C199392 | MONDO:equivalentTo | Multiple Myeloma with Recurrent Genetic Abnormalities | Multiple myelomas characterized by the presence of recurring cytogenetic abnormalities. | MONDO:0009693 | +| MONDO:0957730 | multiple myeloma, not otherwise specified | NCIT:C199418 | MONDO:equivalentTo | Multiple Myeloma, Not Otherwise Specified | Multiple myelomas characterized by the absence of recurrent genetic abnormalities. | MONDO:0009693 | +| MONDO:0957731 | heavy chain class-switched primary cutaneous marginal zone lymphoproliferative disorder | NCIT:C199457 | MONDO:equivalentTo | Heavy Chain Class-Switched Primary Cutaneous Marginal Zone Lymphoproliferative Disorder | A primary cutaneous marginal zone lymphoproliferative disorder characterized by class-switched immunoglobulin heavy chain expression. The majority of cases are IgG-positive. | MONDO:0015813 | +| MONDO:0957732 | igm-positive primary cutaneous marginal zone lymphoproliferative disorder | NCIT:C199460 | MONDO:equivalentTo | IgM-Positive Primary Cutaneous Marginal Zone Lymphoproliferative Disorder | A primary cutaneous marginal zone lymphoproliferative disorder characterized by expression of IgM and absence of class-switched immunoglobulin heavy chain expression. | MONDO:0015813 | +| MONDO:0957733 | bcl2-r-negative, cd23-positive follicle center lymphoma | NCIT:C199467 | MONDO:equivalentTo | BCL2-R-Negative, CD23-Positive Follicle Center Lymphoma | Follicular lymphoma characterized by the absence of BCL2 rearrangement and the presence of CD23-positive neoplastic cells. It is associated with STAT6 mutations. It presents with low-stage disease, typically in the inguinal region, and often has a predominant diffuse growth pattern. | MONDO:0018906 | +| MONDO:0957734 | cyclin d1-positive mantle cell lymphoma | NCIT:C199481 | MONDO:equivalentTo | Cyclin D1-Positive Mantle Cell Lymphoma | A molecular subtype of mantle cell lymphoma characterized by the presence of cyclin D1 expression and/or CCND1 rearrangement.. | MONDO:0018876 | +| MONDO:0957735 | hhv-8 and ebv-negative primary effusion-based lymphoma | NCIT:C199576 | MONDO:equivalentTo | HHV-8 and EBV-Negative Primary Effusion-Based Lymphoma | An HHV-8 and EBV-negative primary effusion-based lymphoma that affects elderly, HIV-negative patients with history of medical conditions that result in fluid overload. The majority of cases have been reported in Japan. Most tumors exhibit centroblastic or immunoblastic morphology. The prognosis is good. | MONDO:0018905 | +| MONDO:0957736 | classic hydroa vacciniforme lymphoproliferative disorder | NCIT:C199676 | MONDO:equivalentTo | Classic Hydroa Vacciniforme Lymphoproliferative Disorder | Hydroa vacciniforme lymphoproliferative disorder characterized by the presence of self-limited papulovesicular skin lesions in sun-exposed areas. There is no involvement of internal organs. It has an indolent course and usually affects White individuals. | MONDO:0018224 | +| MONDO:0957737 | systemic hydroa vacciniforme lymphoproliferative disorder | NCIT:C199677 | MONDO:equivalentTo | Systemic Hydroa Vacciniforme Lymphoproliferative Disorder | Hydroa vacciniforme lymphoproliferative disorder characterized by severe clinical course and associated with fever, lymph node involvement, and involvement of internal organs by EBV-positive T-cells and NK-cells. It usually affects Asian and Latin American individuals. | MONDO:0018224 | +| MONDO:0957738 | indolent nk-cell lymphoproliferative disorder of the gastrointestinal tract | NCIT:C200037 | MONDO:equivalentTo | Indolent NK-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract | An indolent lymphoproliferative disorder that affects the gastrointestinal tract. The neoplastic lymphocytes have the typical phenotype of NK-cells, are of medium to large size, show mild pleomorphism, and are EBV infection negative. Features that characterize extranodal NK/T-cell lymphomas (e.g., angioinvasion and angiodestruction) are not present. | MONDO:0005169 | +| MONDO:0957739 | peripheral t-cell lymphoma-gata3 | NCIT:C200073 | MONDO:equivalentTo | Peripheral T-Cell Lymphoma-GATA3 | A molecular subtype of peripheral T-cell lymphoma, not otherwise specified, characterized by high expression of GATA3. It is composed of a monomorphic lymphocytic infiltrate with minimal inflammation and is associated with a poor prognosis. | MONDO:0004964 | +| MONDO:0957740 | peripheral t-cell lymphoma-tbx21 | NCIT:C200074 | MONDO:equivalentTo | Peripheral T-Cell Lymphoma-TBX21 | A molecular subtype of peripheral T-cell lymphoma, not otherwise specified, characterized by high expression of T-box 21 (TBX21). It is composed of a polymorphic lymphocytic infiltrate admixed with abundant inflammatory cells and is associated with a better prognosis compared to peripheral T-cell lymphoma-GATA3. | MONDO:0004964 | +| MONDO:0957741 | alk-positive histiocytosis | NCIT:C200105 | MONDO:equivalentTo | ALK-Positive Histiocytosis | A rare histiocytic neoplasm associated with ALK gene rearrangement leading to activation of signaling pathways. The neoplastic cells have a mature histiocytic phenotype, and usually have a foamy cytoplasm. It is characterized by frequent neurologic involvement and responds to ALK inhibition treatments. | MONDO:0006247 | +| MONDO:0957742 | vulvar tubulovillous adenoma | NCIT:C200207 | MONDO:equivalentTo | Vulvar Tubulovillous Adenoma | An intestinal-type adenoma that arises from the vulva. It is characterized by the presence of a tubulovillous architectural pattern. | MONDO:0002198|MONDO:0000643 | +| MONDO:0957743 | pancreatic cystic neoplasm | NCIT:C200227 | MONDO:equivalentTo | Pancreatic Cystic Neoplasm | A benign, borderline, or malignant cystic neoplasm that arises from the exocrine pancreas. This category includes pancreatic mucinous-cystic neoplasms, pancreatic cystadenomas, and pancreatic cystadenocarcinomas. | MONDO:0021077|MONDO:0021076 | +| MONDO:0957744 | myelodysplastic syndrome with low blasts | NCIT:C200389 | MONDO:equivalentTo | Myelodysplastic Syndrome with Low Blasts | Myelodysplastic syndrome characterized by the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood. | MONDO:0018881 | +| MONDO:0957745 | myelodysplastic syndrome with genetic abnormalities | NCIT:C200390 | MONDO:equivalentTo | Myelodysplastic Syndrome with Genetic Abnormalities | Myelodysplastic syndrome characterized by the presence of defining genetic abnormalities. | MONDO:0018881 | +| MONDO:0957746 | myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related gene mutations | NCIT:C200400 | MONDO:equivalentTo | Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations | Myelodysplastic syndromes/acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia. | MONDO:0015041 | +| MONDO:0957747 | myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities | NCIT:C200402 | MONDO:equivalentTo | Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities | Myelodysplastic syndromes/acute myeloid leukemias classified based on specific karyotype findings. | MONDO:0015041 | +| MONDO:0957748 | acute myeloid leukemia with mecom rearrangement | NCIT:C200407 | MONDO:equivalentTo | Acute Myeloid Leukemia with MECOM Rearrangement | Acute myeloid leukemia characterized by rearrangement of the MECOM gene with various genes. | MONDO:0020078 | +| MONDO:0957749 | acute myeloid leukemia with nup98 rearrangement | NCIT:C200411 | MONDO:equivalentTo | Acute Myeloid Leukemia with NUP98 Rearrangement | Acute myeloid leukemia characterized by rearrangement of the NUP98 gene with various genes. | MONDO:0020078 | +| MONDO:0957750 | acute myeloid leukemia with fus-erg | NCIT:C200419 | MONDO:equivalentTo | Acute Myeloid Leukemia with FUS-ERG | Acute myeloid leukemia associated with FUS-ERG gene fusion. The prognosis is poor. | MONDO:0020078 | +| MONDO:0957751 | acute myeloid leukemia with npm1-mlf1 | NCIT:C200420 | MONDO:equivalentTo | Acute Myeloid Leukemia with NPM1-MLF1 | Acute myeloid leukemia associated with NPM1-MLF1 gene fusion. | MONDO:0020078 | +| MONDO:0957752 | acute myeloid leukemia with kat6a-crebbp | NCIT:C200421 | MONDO:equivalentTo | Acute Myeloid Leukemia with KAT6A-CREBBP | Acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. | MONDO:0020078 | +| MONDO:0957753 | acute leukemia of ambiguous lineage with defining genetic abnormalities | NCIT:C200494 | MONDO:equivalentTo | Acute Leukemia of Ambiguous Lineage with Defining Genetic Abnormalities | Acute leukemia of ambiguous lineage characterized by the presence of defined genetic alterations. | MONDO:0019460 | +| MONDO:0957754 | mature plasmacytoid dendritic cell proliferation associated with myeloid neoplasm | NCIT:C200513 | MONDO:equivalentTo | Mature Plasmacytoid Dendritic Cell Proliferation Associated with Myeloid Neoplasm | A clonal proliferation of plasmacytoid dendritic cells in patients with defined myeloid neoplasms. It is characterized by neoplastic proliferations of mature cells with plasmacytoid morphology in the skin, bone marrow, and very rarely, lymph nodes. Patients are predominantly older males. | MONDO:0006247 | +| MONDO:0957755 | b lymphoblastic leukemia/lymphoma with tcf3-hlf rearrangement | NCIT:C200587 | MONDO:equivalentTo | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement | An exceptionally rare childhood B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement resulting in the formation of TCF3-HLF chimeric transcription factor. The prognosis is poor. | MONDO:0035605 | +| MONDO:0957756 | atypical teratoid/rhabdoid tumor molecular subtypes | NCIT:C200597 | MONDO:equivalentTo | Atypical Teratoid/Rhabdoid Tumor Molecular Subtypes | A term that refers to the classification of atypical teratoid/rhabdoid tumors according to their molecular characteristics. | MONDO:0020560 | +| MONDO:0957757 | classic follicular lymphoma | NCIT:C200669 | MONDO:equivalentTo | Classic Follicular Lymphoma | A term that refers to follicular lymphoma grade 1, 2, and 3A. | MONDO:0018906 | +| MONDO:0957758 | follicular lymphoma with unusual cytological features | NCIT:C200684 | MONDO:equivalentTo | Follicular Lymphoma with Unusual Cytological Features | An uncommon morphologic variant of follicular lymphoma characterized by the presence of predominantly medium-sized neoplastic lymphocytes with blastoid features or large neoplastic lymphocytes with cleaved nuclei. | MONDO:0018906 | +| MONDO:0957759 | cyclin d1-negative mantle cell lymphoma | NCIT:C200685 | MONDO:equivalentTo | Cyclin D1-Negative Mantle Cell Lymphoma | A molecular subtype of mantle cell lymphoma characterized by the absence of cyclin D1 expression and CCND1 rearrangement. | MONDO:0018876 | +| MONDO:0957760 | primary large b-cell lymphoma of immune-privileged site | NCIT:C200687 | MONDO:equivalentTo | Primary Large B-Cell Lymphoma of Immune-Privileged Site | A term that refers to diffuse large B-cell lymphomas that arise as primary tumors in the central nervous system, vitreoretina, and testis in immunocompetent patients. | MONDO:0018905 | +| MONDO:0957761 | ebv-negative burkitt lymphoma | NCIT:C200688 | MONDO:equivalentTo | EBV-Negative Burkitt Lymphoma | Burkitt lymphoma that is not associated with Epstein-Barr virus infection. | MONDO:0007243 | +| MONDO:0957762 | plasma cell neoplasm with associated paraneoplastic syndrome | NCIT:C200738 | MONDO:equivalentTo | Plasma Cell Neoplasm with Associated Paraneoplastic Syndrome | A term that refers to rare paraneoplastic syndromes associated with plasma cell neoplasms. This category includes the following: POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes); TEMPI syndrome (telangiectasia, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collection, and intrapulmonary shunting); and AESOP syndrome (adenopathy and extensive skin patch overlying a plasmacytoma). | MONDO:0004959 | +| MONDO:0957763 | who grade 4 glioma | NCIT:C200758 | MONDO:equivalentTo | WHO Grade 4 Glioma | A group of malignant gliomas that includes the following: glioblastoma; diffuse midline glioma; diffuse hemispheric glioma, H3 G34-mutant; astrocytoma, IDH-mutant, grade 4; and diffuse pediatric-type high grade glioma, H3-wildtype and IDH-wildtype. | MONDO:0100342 | +| MONDO:0957764 | primary cutaneous peripheral t-cell lymphoma, not otherwise specified | NCIT:C201080 | MONDO:equivalentTo | Primary Cutaneous Peripheral T-Cell Lymphoma, Not Otherwise Specified | An exceedingly rare peripheral T-cell lymphoma that arises from the skin and does not meet the criteria that define the other well characterized primary cutaneous peripheral T-cell lymphomas, i.e., it is a diagnosis of exclusion. | MONDO:0000607 | +| MONDO:0957765 | cribriform comedo-type adenocarcinoma | NCIT:C201124 | MONDO:equivalentTo | Cribriform Comedo-Type Adenocarcinoma | An adenocarcinoma characterized by the presence of malignant cribriform glands with central necrotic changes. | MONDO:0003575|MONDO:0006176 | +| MONDO:0957766 | aleukemic myeloid leukemia | NCIT:C201127 | MONDO:equivalentTo | Aleukemic Myeloid leukemia | Myeloid leukemia presenting with leukemic infiltration of tissues and normal or decreased leukocyte count in the peripheral blood. | MONDO:0003730|MONDO:0004643 | +| MONDO:0957767 | solid pseudopapillary neoplasm | NCIT:C201136 | MONDO:equivalentTo | Solid Pseudopapillary Neoplasm | A low-grade malignant neoplasm that arises from the exocrine pancreas. Rare cases arising from ectopic pancreatic tissue in the ovary have also been described. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. It usually presents as an encapsulated, solitary, and lobulated mass. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases. | MONDO:0004992 | +| MONDO:0957768 | endemic burkitt lymphoma | NCIT:C27122 | MONDO:equivalentTo | Endemic Burkitt Lymphoma | A clinical variant of Burkitt lymphoma that occurs in equatorial Africa. The Epstein-Barr virus has been detected in all patients. It is the most common malignancy of childhood in this area. | MONDO:0007243 | +| MONDO:0957769 | multicystic mesothelioma | NCIT:C3765 | MONDO:equivalentTo | Multicystic Mesothelioma | A mesothelial neoplasm that arises from the peritoneum and rarely the pleura. It is characterized by the presence of multiple cysts lined by flattened or cuboidal mesothelial cells. There is no evidence of significant cytologic atypia or increased mitotic activity. It may reoccur. Rare cases of transformation to malignant mesothelioma have been reported. | MONDO:0006856|MONDO:0021077 | +| MONDO:0957770 | low grade myofibroblastic sarcoma | NCIT:C49024 | MONDO:equivalentTo | Low Grade Myofibroblastic Sarcoma | A low-grade malignant neoplasm arising from the soft tissue and rarely bone. It is characterized by the presence of spindle-shaped myofibroblasts and collagenous stroma formation in a storiform growth pattern. Metastasis is very rare. | MONDO:0005164 | +| MONDO:0957771 | sclerosing epithelioid fibrosarcoma | NCIT:C49027 | MONDO:equivalentTo | Sclerosing Epithelioid Fibrosarcoma | A well-circumscribed malignant fibroblastic neoplasm that usually arises from the soft tissue. It is characterized by the presence of nests of malignant epithelioid fibroblasts and sclerotic collagen stroma formation. | MONDO:0005164 | +| MONDO:0957772 | meningothelial cell neoplasm | NCIT:C6971 | MONDO:equivalentTo | Meningothelial Cell Neoplasm | A neoplasm that arises from meningothelial cells. This category refers to meningiomas. | MONDO:0002616 | +| MONDO:0957773 | type a lymphomatoid papulosis | NCIT:C7197 | MONDO:equivalentTo | Type A Lymphomatoid Papulosis | A variant of lymphomatoid papulosis characterized by the presence of scattered anaplastic large lymphocytes, often resembling Reed-Sternberg cells, admixed with acute and chronic inflammatory cells. | MONDO:0020326 | +| MONDO:0957774 | type c lymphomatoid papulosis | NCIT:C7199 | MONDO:equivalentTo | Type C Lymphomatoid Papulosis | A variant of lymphomatoid papulosis characterized clinically by regressing skin papules, and morphologically by features resembling anaplastic large cell lymphoma. | MONDO:0020326 | +| MONDO:0957775 | pancreatic intraductal papillary mucinous neoplasm, oncocytic-type | NCIT:C95514 | MONDO:equivalentTo | Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type | A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells with abundant eosinophilic granular cytoplasm. | MONDO:0004286|MONDO:0010795 | +| MONDO:0957850 | post-essential thrombocythemia myelofibrosis | NCIT:C126806 | MONDO:equivalentTo | Post-Essential Thrombocythemia Myelofibrosis | Myelofibrosis that develops in a patient with history of essential thrombocythemia. | MONDO:0005029 | +| MONDO:0957851 | recurrent myelofibrosis | NCIT:C162424 | MONDO:equivalentTo | Recurrent Myelofibrosis | The reemergence of myelofibrosis after a period of remission. | | +| MONDO:0957852 | refractory myelofibrosis | NCIT:C162425 | MONDO:equivalentTo | Refractory Myelofibrosis | Myelofibrosis that is resistant to treatment. | | +| MONDO:0957853 | bone rosai-dorfman-destombes disease | NCIT:C178613 | MONDO:equivalentTo | Bone Rosai-Dorfman-Destombes Disease | Rosai-Dorfman-Destombes disease affecting the bone. | MONDO:0019060|MONDO:0006412 | +| MONDO:0957854 | stage m0 medulloblastoma | NCIT:C186521 | MONDO:equivalentTo | Stage M0 Medulloblastoma | No evidence of subarachnoid or hematogenous metastasis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0007959 | +| MONDO:0957855 | stage m1 medulloblastoma | NCIT:C186522 | MONDO:equivalentTo | Stage M1 Medulloblastoma | Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0007959 | +| MONDO:0957856 | stage m2 medulloblastoma | NCIT:C186523 | MONDO:equivalentTo | Stage M2 Medulloblastoma | Gross nodular seeding is detected in the cerebellar/cerebral subarachnoid space or in the third or lateral ventricles. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0007959 | +| MONDO:0957857 | stage m3 medulloblastoma | NCIT:C186524 | MONDO:equivalentTo | Stage M3 Medulloblastoma | Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0007959 | +| MONDO:0957858 | stage m4 medulloblastoma | NCIT:C186525 | MONDO:equivalentTo | Stage M4 Medulloblastoma | Metastasis outside the cerebrospinal axis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0007959 | +| MONDO:0957859 | stage m0 atypical teratoid/rhabdoid tumor | NCIT:C186528 | MONDO:equivalentTo | Stage M0 Atypical Teratoid/Rhabdoid Tumor | No evidence of subarachnoid or hematogenous metastasis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0020560 | +| MONDO:0957860 | stage m1 atypical teratoid/rhabdoid tumor | NCIT:C186529 | MONDO:equivalentTo | Stage M1 Atypical Teratoid/Rhabdoid Tumor | Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0020560 | +| MONDO:0957861 | stage m2 atypical teratoid/rhabdoid tumor | NCIT:C186530 | MONDO:equivalentTo | Stage M2 Atypical Teratoid/Rhabdoid Tumor | Gross nodular seeding is detected in the cerebellar/cerebral subarachnoid space or in the third or lateral ventricles. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0020560 | +| MONDO:0957862 | stage m3 atypical teratoid/rhabdoid tumor | NCIT:C186531 | MONDO:equivalentTo | Stage M3 Atypical Teratoid/Rhabdoid Tumor | Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0020560 | +| MONDO:0957863 | stage m4 atypical teratoid/rhabdoid tumor | NCIT:C186532 | MONDO:equivalentTo | Stage M4 Atypical Teratoid/Rhabdoid Tumor | Metastasis outside the cerebrospinal axis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0020560 | +| MONDO:0957864 | stage m0 pineoblastoma | NCIT:C186568 | MONDO:equivalentTo | Stage M0 Pineoblastoma | No evidence of subarachnoid or hematogenous metastasis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0016722 | +| MONDO:0957865 | stage m1 pineoblastoma | NCIT:C186569 | MONDO:equivalentTo | Stage M1 Pineoblastoma | Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0016722 | +| MONDO:0957866 | stage m2 pineoblastoma | NCIT:C186570 | MONDO:equivalentTo | Stage M2 Pineoblastoma | Gross nodular seeding is detected in the cerebellar/cerebral subarachnoid space or in the third or lateral ventricles. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0016722 | +| MONDO:0957867 | stage m3 pineoblastoma | NCIT:C186571 | MONDO:equivalentTo | Stage M3 Pineoblastoma | Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0016722 | +| MONDO:0957868 | stage m4 pineoblastoma | NCIT:C186572 | MONDO:equivalentTo | Stage M4 Pineoblastoma | Metastasis outside the cerebrospinal axis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) | MONDO:0016722 | +| MONDO:0958220 | colorectal perineurioma | NCIT:C96513 | MONDO:equivalentTo | Colorectal Perineurioma | A perineurioma that arises from the colon or rectum. It usually presents as a small sessile polyp. | MONDO:0015031|MONDO:0021444 | +| MONDO:0970840 | platinum-resistant primary peritoneal carcinoma | NCIT:C157622 | MONDO:equivalentTo | Platinum-Resistant Primary Peritoneal Carcinoma | Primary peritoneal carcinoma that progresses between one and six months of completing platinum therapy. | MONDO:0015686 | +| MONDO:0970841 | platinum-resistant malignant female reproductive system neoplasm | NCIT:C169021 | MONDO:equivalentTo | Platinum-Resistant Malignant Female Reproductive System Neoplasm | A malignant female reproductive system neoplasm that progresses between one and six months of completing platinum therapy. | MONDO:0001416 | +| MONDO:0970842 | extracutaneous merkel cell carcinoma | NCIT:C173586 | MONDO:equivalentTo | Extracutaneous Merkel Cell Carcinoma | A rare Merkel cell carcinoma that arises from extracutaneous sites, including the oral cavity, salivary glands, breast, vulva, and vaginal wall. | MONDO:0019210 | +| MONDO:0970843 | non-neoplastic tonsillar disorder | NCIT:C173798 | MONDO:equivalentTo | Non-Neoplastic Tonsillar Disorder | A non-neoplastic disorder that affects the tonsils. | | +| MONDO:0970844 | swi/snf complex-deficient sinonasal carcinoma | NCIT:C201634 | MONDO:equivalentTo | SWI/SNF Complex-Deficient Sinonasal Carcinoma | A highly aggressive, poorly to undifferentiated carcinoma that arises from the sinonasal tract. It is characterized by loss of one SWI/SNF complex subunit (either SMARCB1 or SMARCA4) and lacks histological features to allow classification into another specific entity. Most patients present with locally advanced disease. | MONDO:0056819 | +| MONDO:0970845 | tracheal verrucous carcinoma | NCIT:C201742 | MONDO:equivalentTo | Tracheal Verrucous Carcinoma | An exophytic, warty, well differentiated, slow growing and non-metastasizing squamous cell carcinoma arising from the trachea. | MONDO:0001419|MONDO:0006006 | +| MONDO:0970846 | hypopharyngeal verrucous carcinoma | NCIT:C201743 | MONDO:equivalentTo | Hypopharyngeal Verrucous Carcinoma | An exophytic, warty, well differentiated, slow growing and non-metastasizing squamous cell carcinoma arising from the hypopharynx. | MONDO:0044638|MONDO:0006006 | +| MONDO:0970847 | hypopharyngeal papillary squamous cell carcinoma | NCIT:C201748 | MONDO:equivalentTo | Hypopharyngeal Papillary Squamous Cell Carcinoma | A variant of squamous cell carcinoma that arises from the hypopharynx. It is characterized by exophytic and papillary growth. The papillae are covered by a malignant stratified squamous epithelium. | MONDO:0002979|MONDO:0044638 | +| MONDO:0970848 | hypopharyngeal spindle cell squamous carcinoma | NCIT:C201749 | MONDO:equivalentTo | Hypopharyngeal Spindle Cell Squamous Carcinoma | A squamous cell carcinoma that arises from the hypopharynx. It is characterized by the presence of a malignant spindle cell cellular component. In some cases, there is a biphasic morphology due to the presence of a well-differentiated squamous cell carcinoma component. The latter is either in situ or invasive squamous cell carcinoma. | MONDO:0044638|MONDO:0021663 | +| MONDO:0970849 | parotid gland keratocystoma | NCIT:C201770 | MONDO:equivalentTo | Parotid Gland Keratocystoma | A benign neoplasm that arises from the parotid gland. It is characterized by the presence of multicystic formations, lined by neoplastic stratified squamous epithelium and containing keratotic lamellae. The neoplastic squamous epithelial cells have bland nuclei and abundant eosinophilic cytoplasm. Focally, solid islands of squamous cells surrounded by collagenous stroma are present. | MONDO:0021460 | +| MONDO:0970850 | hyalinizing clear cell carcinoma | NCIT:C201821 | MONDO:equivalentTo | Hyalinizing Clear Cell Carcinoma | A rare, slow-growing carcinoma characterized by the presence of malignant clear and eosinophilic cells in a hyalinized stroma. It has been described in the salivary glands and lung. Most cases are associated with translocation of EWSR1 and ATF1, resulting in the formation of EWSR1-ATF1 fusion gene. The prognosis is good. | MONDO:0004993 | +| MONDO:0970851 | tongue verrucous carcinoma | NCIT:C201878 | MONDO:equivalentTo | Tongue Verrucous Carcinoma | A well differentiated squamous cell carcinoma arising from the tongue. It is an exophytic, warty, slow growing tumor, usually affecting older males. It is associated with the chronic use of smokeless tobacco. | MONDO:0021538|MONDO:0000500 | +| MONDO:0970852 | palatine tonsil hamartomatous polyp | NCIT:C201900 | MONDO:equivalentTo | Palatine Tonsil Hamartomatous Polyp | A rare hamartomatous polyp that arises from the palatine tonsil. | | +| MONDO:0970853 | transformed chronic lymphocytic leukemia to hodgkin lymphoma | NCIT:C201960 | MONDO:equivalentTo | Transformed Chronic Lymphocytic Leukemia to Hodgkin Lymphoma | Histologic transformation of chronic lymphocytic leukemia to Hodgkin lymphoma. | MONDO:0004948 | +| MONDO:0970854 | pineoblastoma molecular subtypes | NCIT:C201966 | MONDO:equivalentTo | Pineoblastoma Molecular Subtypes | A term that refers to the classification of pineoblastomas according to their molecular characteristics. | MONDO:0016722 | +| MONDO:0970855 | spinal cord pilocytic astrocytoma | NCIT:C201976 | MONDO:equivalentTo | Spinal Cord Pilocytic Astrocytoma | Pilocytic astrocytoma that arises from the spinal cord. | MONDO:0003174|MONDO:0016691 | +| MONDO:0970856 | brain low grade glioma | NCIT:C201977 | MONDO:equivalentTo | Brain Low Grade Glioma | A low-grade glioma that arises from the brain. | MONDO:0021632|MONDO:0021637 | +| MONDO:0970857 | clear cell calcifying epithelial odontogenic tumor | NCIT:C202057 | MONDO:equivalentTo | Clear Cell Calcifying Epithelial Odontogenic Tumor | A calcifying epithelial odontogenic tumor that contains a variable proportion of clear cells containing diastase-labile PAS-positive material that is consistent with glycogen. | MONDO:0022057 | +| MONDO:0970858 | cystic/microcystic calcifying epithelial odontogenic tumor | NCIT:C202058 | MONDO:equivalentTo | Cystic/Microcystic Calcifying Epithelial Odontogenic Tumor | A calcifying epithelial odontogenic tumor characterized by cystic/microcystic changes. | MONDO:0022057 | +| MONDO:0970859 | non-calcifying/langerhans cell-rich calcifying epithelial odontogenic tumor | NCIT:C202059 | MONDO:equivalentTo | Non-Calcifying/Langerhans Cell-Rich Calcifying Epithelial Odontogenic Tumor | A calcifying epithelial odontogenic tumor that contains significant numbers of Langerhans cells. | MONDO:0022057 | +| MONDO:0970860 | adenoid ameloblastoma | NCIT:C202061 | MONDO:equivalentTo | Adenoid Ameloblastoma | A rare ameloblastoma characterized by the presence of cribriform architecture and the formation of duct-like structures. Dentinoid is usually present. | MONDO:0017795 | +| MONDO:0970861 | egfr-positive lung non-small cell carcinoma | NCIT:C202131 | MONDO:equivalentTo | EGFR-Positive Lung Non-Small Cell Carcinoma | Lung non-small cell carcinoma that is associated with EGFR gene mutation. | MONDO:0005233 | +| MONDO:0970862 | juvenile trabecular ossifying fibroma | NCIT:C202205 | MONDO:equivalentTo | Juvenile Trabecular Ossifying Fibroma | A rare, benign fibro-osseous neoplasm that usually affects the jaws and predominantly arises in children and adolescents. It is characterized by prominent osteoid formation rimmed by osteoblasts in a fibrotic stroma. Patients usually present with painless jaw expansion that is associated with rapid growth and tooth displacement. Amplifications of MDM2 and RASAL1 genes have been detected in some cases. Recurrences have been reported in a minority of cases. | MONDO:0002119 | +| MONDO:0970863 | psammomatoid ossifying fibroma | NCIT:C202209 | MONDO:equivalentTo | Psammomatoid Ossifying Fibroma | A rare, benign fibro-osseous neoplasm that arises from the craniofacial skeleton. It is characterized by the presence of multiple ossicles resembling psammoma bodies in a hypercellular stroma. It usually affects individuals in their second to fourth decades. Recurrences following surgical excision have been reported in a minority of cases. | MONDO:0002119 | +| MONDO:0970864 | surface osteoma | NCIT:C202252 | MONDO:equivalentTo | Surface Osteoma | An osteoma that arises from the surface of the bone. | MONDO:0005166 | +| MONDO:0970865 | central osteoma | NCIT:C202253 | MONDO:equivalentTo | Central Osteoma | An osteoma that arises from the endosteum. | MONDO:0005166 | +| MONDO:0970866 | rhabdomyosarcoma with tfcp2 rearrangement | NCIT:C202263 | MONDO:equivalentTo | Rhabdomyosarcoma with TFCP2 Rearrangement | An aggressive, high-grade rhabdomyosarcoma characterized by TFCP2 rearrangement that results either in TFCP2-FUS or TFCP2-EWSR1 fusion gene formation. It affects young adults and arises from bone and less frequently soft tissue. It predominantly affects the craniofacial bones. Histologically, it usually shows a biphasic pattern with spindle and epithelioid cell areas. It is associated with poor prognosis. | MONDO:0005212 | +| MONDO:0970867 | non-clear cell renal cell carcinoma | NCIT:C202497 | MONDO:equivalentTo | Non-Clear Cell Renal Cell Carcinoma | A group of renal cell carcinomas characterized by the absence of lipid-containing clear adenocarcinoma cells. This category includes the following morphological subtypes: papillary renal cell carcinoma; sarcomatoid renal cell carcinoma; chromophobe renal cell carcinoma; tubulocystic renal cell carcinoma; and eosinophilic solid and cystic renal cell carcinoma. | MONDO:0005549 | +| MONDO:0970868 | middle ear papilloma | NCIT:C202582 | MONDO:equivalentTo | Middle Ear Papilloma | A rare papilloma that arises from the middle ear and resembles a sinonasal papilloma. Approximately half of the patients have concurrent sinonasal or nasopharyngeal papillomas. | MONDO:0021078|MONDO:0021482 | +| MONDO:0970869 | external auditory canal squamous cell carcinoma | NCIT:C202594 | MONDO:equivalentTo | External Auditory Canal Squamous Cell Carcinoma | A squamous cell carcinoma that arises from the keratinizing squamous epithelium that lines the external auditory canal. | MONDO:0003501 | +| MONDO:0970870 | orbit solitary fibrous tumor | NCIT:C202620 | MONDO:equivalentTo | Orbit Solitary Fibrous Tumor | A solitary fibrous tumor that arises from the orbit. Most of these tumors are benign. | MONDO:0016238|MONDO:0024611 | +| MONDO:0970871 | head and neck soft tissue neoplasm | NCIT:C202623 | MONDO:equivalentTo | Head and Neck Soft Tissue Neoplasm | A mesenchymal neoplasm that arises from the soft tissue of the head and neck. | MONDO:0006424|MONDO:0005586 | +| MONDO:0970872 | proximal colon carcinoma | NCIT:C202633 | MONDO:equivalentTo | Proximal Colon Carcinoma | A colon carcinoma that arises from cecum, ascending colon, or hepatic flexure. | MONDO:0002032 | +| MONDO:0970873 | distal colon carcinoma | NCIT:C202634 | MONDO:equivalentTo | Distal Colon Carcinoma | A colon carcinoma that arises from the splenic flexure, descending colon, or sigmoid colon. | MONDO:0002032 | +| MONDO:0970874 | oral cavity neurofibroma | NCIT:C202860 | MONDO:equivalentTo | Oral Cavity Neurofibroma | A neurofibroma that arises from the oral cavity. The tongue is the most frequently affected site. | MONDO:0021445|MONDO:0016755 | +| MONDO:0970875 | oral cavity schwannoma | NCIT:C202876 | MONDO:equivalentTo | Oral Cavity Schwannoma | A schwannoma that arises from the oral cavity. | MONDO:0021445|MONDO:0004820 | +| MONDO:0970876 | head and neck phosphaturic mesenchymal tumor | NCIT:C202879 | MONDO:equivalentTo | Head and Neck Phosphaturic Mesenchymal Tumor | A phosphaturic mesenchymal tumor that arises from the head and neck. It usually affects the paranasal sinuses. The head and neck region is the most frequently involved site for phosphaturic mesenchymal tumors, following the appendicular skeleton. | MONDO:0006368|MONDO:0005586 | +| MONDO:0970877 | appendicular skeleton phosphaturic mesenchymal tumor | NCIT:C202880 | MONDO:equivalentTo | Appendicular Skeleton Phosphaturic Mesenchymal Tumor | A phosphaturic mesenchymal tumor that arises from the appendicular skeleton. The appendicular skeleton is the most frequently involved site for phosphaturic mesenchymal tumors. | MONDO:0019060|MONDO:0006368 | +| MONDO:0970878 | poorly differentiated synovial sarcoma | NCIT:C202883 | MONDO:equivalentTo | Poorly Differentiated Synovial Sarcoma | A synovial sarcoma characterized by the presence of poorly differentiated morphological features and absence of spindle cells. | MONDO:0010434 | +| MONDO:0970879 | primary cd30-positive t-cell lymphoproliferative disorder | NCIT:C202952 | MONDO:equivalentTo | Primary CD30-Positive T-Cell Lymphoproliferative Disorder | A spectrum of T-cell lymphoproliferative disorders that arise from skin, subcutaneous tissue, and head and neck mucosal sites. They are characterized by the presence of CD30-positive neoplastic lymphocytes. Cells that resemble the hallmark cells of anaplastic large cell lymphoma are often seen. | MONDO:0005169 | +| MONDO:0970880 | head and neck hematopoietic and lymphoid cell neoplasm | NCIT:C202954 | MONDO:equivalentTo | Head and Neck Hematopoietic and Lymphoid Cell Neoplasm | A neoplasm of hematopoietic and lymphoid cell origin that affects the head and neck region. | MONDO:0005586|MONDO:0044881 | +| MONDO:0970881 | head and neck germ cell tumor | NCIT:C202977 | MONDO:equivalentTo | Head and Neck Germ Cell Tumor | An exceptionally rare benign or malignant germ cell tumor that arises from the head and neck region. It usually affects the sinonasal tract and nasopharynx. | MONDO:0018201|MONDO:0005586 | +| MONDO:0970882 | cecum neuroendocrine tumor | NCIT:C203386 | MONDO:equivalentTo | Cecum Neuroendocrine Tumor | A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the cecum. | MONDO:0005694|MONDO:0015067 | +| MONDO:0970883 | ascending colon neuroendocrine tumor | NCIT:C203387 | MONDO:equivalentTo | Ascending Colon Neuroendocrine Tumor | A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the ascending colon. | MONDO:0015067 | +| MONDO:0970884 | descending colon neuroendocrine tumor | NCIT:C203388 | MONDO:equivalentTo | Descending Colon Neuroendocrine Tumor | A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the descending colon. | MONDO:0015067 | +| MONDO:0970885 | sigmoid colon neuroendocrine tumor | NCIT:C203389 | MONDO:equivalentTo | Sigmoid Colon Neuroendocrine Tumor | A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the sigmoid colon. | MONDO:0015067 | +| MONDO:0970886 | transverse colon neuroendocrine tumor | NCIT:C203390 | MONDO:equivalentTo | Transverse Colon Neuroendocrine Tumor | A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the transverse colon. | MONDO:0015067 | +| MONDO:0970887 | histiocytic disorder | NCIT:C203422 | MONDO:equivalentTo | Histiocytic Disorder | A group of non-neoplastic and neoplastic disorders characterized by the proliferation of histiocytes. This category includes hemophagocytic lymphohistiocytosis and histiocytic and dendritic cell neoplasms. | | +| MONDO:0970888 | myelodysplastic chronic myelomonocytic leukemia | NCIT:C203443 | MONDO:equivalentTo | Myelodysplastic Chronic Myelomonocytic Leukemia | Chronic myelomonocytic leukemia characterized by the absence of a markedly elevated white blood cell count in the peripheral blood. | MONDO:0020311 | +| MONDO:0970889 | myeloproliferative chronic myelomonocytic leukemia | NCIT:C203444 | MONDO:equivalentTo | Myeloproliferative Chronic Myelomonocytic Leukemia | Chronic myelomonocytic leukemia characterized by the presence of a markedly elevated white blood cell count in the peripheral blood. | MONDO:0020311 | +| MONDO:0970890 | t acute lymphoblastic leukemia with recurrent genetic abnormalities | NCIT:C203469 | MONDO:equivalentTo | T Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities | T-acute lymphoblastic leukemias characterized by the presence of recurring cytogenetic and/or molecular abnormalities. | MONDO:0004963 | +| MONDO:0970891 | esophageal and gastroesophageal junction carcinoma | NCIT:C203673 | MONDO:equivalentTo | Esophageal and Gastroesophageal Junction Carcinoma | A carcinoma that arises from the esophagus or gastroesophageal junction. | MONDO:0006181 | +| MONDO:0970892 | low grade mucinous carcinoma peritonei | NCIT:C203946 | MONDO:equivalentTo | Low Grade Mucinous Carcinoma Peritonei | A low-grade mucinous adenocarcinoma that has spread to the peritoneum. | MONDO:0017048 | +| MONDO:0970893 | high grade mucinous carcinoma peritonei | NCIT:C203948 | MONDO:equivalentTo | High Grade Mucinous Carcinoma Peritonei | A high-grade mucinous adenocarcinoma that has spread to the peritoneum. | MONDO:0017048 | +| MONDO:0970894 | merkel cell polyoma virus-positive merkel cell carcinoma | NCIT:C204383 | MONDO:equivalentTo | Merkel Cell Polyoma Virus-Positive Merkel Cell Carcinoma | A Merkel cell carcinoma that is associated with Merkel cell polyoma virus infection. | MONDO:0019210 | +| MONDO:0970895 | merkel cell polyoma virus-negative merkel cell carcinoma | NCIT:C204385 | MONDO:equivalentTo | Merkel Cell Polyoma Virus-Negative Merkel Cell Carcinoma | A Merkel cell carcinoma that is not associated with Merkel cell polyoma virus infection. | MONDO:0019210 | +| MONDO:0970896 | lentiginous melanocytic nevus | NCIT:C204482 | MONDO:equivalentTo | Lentiginous Melanocytic Nevus | A nevus characterized by an intraepidermal proliferation of nested melanocytes along the basal epidermis. | MONDO:0044794 | +| MONDO:0970897 | mitf pathway-activated melanocytic tumor | NCIT:C204739 | MONDO:equivalentTo | MITF Pathway-Activated Melanocytic Tumor | A cutaneous neoplasm associated with MITF gene rearrangement and either ACTIN-MITF translocation or MITF-CREM translocation. It is composed of large cells with clear cytoplasm that exhibit melanocytic differentiation and proliferate in the dermis. It presents as a single non-pigmented cutaneous nodule. | MONDO:0021583 | +| MONDO:0970898 | dermal spitz nevus | NCIT:C204789 | MONDO:equivalentTo | Dermal Spitz Nevus | A Spitz nevus characterized by the presence of an intradermal melanocytic component without junctional melanocytic activity. | MONDO:0006813|MONDO:0044793 | +| MONDO:0970899 | spitz tumor | NCIT:C204790 | MONDO:equivalentTo | Spitz Tumor | A term that refers to a group of melanocytic neoplasms that are composed of epithelioid and/or spindle cells and extend from the epidermis into the reticular dermis, often in a wedge-shaped configuration. They are usually associated with oncogenic mutations that activate the MAP-kinase pathway. This category includes Spitz nevus, Spitz melanocytoma, and Spitz melanoma. | MONDO:0021583 | +| MONDO:0970900 | melanoma in intermittently sun-exposed skin | NCIT:C204840 | MONDO:equivalentTo | Melanoma in Intermittently Sun-Exposed Skin | A melanoma that arises from the skin in the absence of severe actinic keratosis. It can arise from a pre-existing nevus or de novo. | MONDO:0005012 | +| MONDO:0970901 | low-csd melanoma, superficial spreading melanoma subtype | NCIT:C204843 | MONDO:equivalentTo | Low-CSD Melanoma, Superficial Spreading Melanoma Subtype | A cutaneous melanoma that develops on sun exposed sites with low cumulative sun damage (CSD). It is characterized by a prominent junctional and intraepidermal component with intraepidermal proliferation of individual atypical melanocytes and formation of nests of atypical melanocytes along the dermal-epidermal junction. The dermal component is composed of atypical melanocytes that fail to mature. The atypical melanocytes have large nuclei, prominent nucleoli, and eosinophilic or lightly pigmented cytoplasm. It is the most common melanoma subtype in the Western world. | MONDO:0020638 | +| MONDO:0970902 | melanoma in chronically sun-exposed skin | NCIT:C204864 | MONDO:equivalentTo | Melanoma in Chronically Sun-Exposed Skin | A melanoma that arises from a chronically sun-exposed skin area. It is associated with severe actinic keratosis. | MONDO:0005012 | +| MONDO:0970903 | mucosal nevus | NCIT:C204907 | MONDO:equivalentTo | Mucosal Nevus | A nevus that arises from a mucosal site. | MONDO:0005073 | +| MONDO:0970904 | dendritic blue nevus | NCIT:C204910 | MONDO:equivalentTo | Dendritic Blue Nevus | A blue nevus characterized by the proliferation of dendritic melanocytes in sclerotic stromal collagen. | MONDO:0006680 | +| MONDO:0970905 | intermediate congenital melanocytic nevus | NCIT:C204976 | MONDO:equivalentTo | Intermediate Congenital Melanocytic Nevus | A congenital melanocytic nevus measuring 15-200 mm. It is typically amenable to surgical resection. | MONDO:0044792 | +| MONDO:0970906 | conjunctival melanocytic neoplasm | NCIT:C204977 | MONDO:equivalentTo | Conjunctival Melanocytic Neoplasm | A melanocytic neoplasm that arises from the conjunctiva. This category includes conjunctival nevus, conjunctival melanocytic intraepithelial lesions, and conjunctival melanoma. | MONDO:0021143|MONDO:0020204 | +| MONDO:0970907 | uveal melanocytic neoplasm | NCIT:C205057 | MONDO:equivalentTo | Uveal Melanocytic Neoplasm | A melanocytic neoplasm that arises from the iris, ciliary body, and choroid. This category includes nevus and its subtype melanocytoma, and melanoma. | MONDO:0021143|MONDO:0021225 | +| MONDO:0970908 | nodular melanoma | NCIT:C205125 | MONDO:equivalentTo | Nodular Melanoma | A melanoma that arises from the skin and mucosal sites. It is characterized by a vertical growth phase and lacks a significant radial growth phase. It may or may not arise from a pre-existing nevus. Morphologically, it is characterized by the presence of cohesive aggregates of neoplastic melanocytes in the dermis that often exhibit an epithelioid appearance. The overlying epidermis is often involved. | MONDO:0005105 | +| MONDO:0970909 | dermal melanoma | NCIT:C205129 | MONDO:equivalentTo | Dermal Melanoma | A melanoma that is confined to the dermis and subcutaneous tissue without involvement of the epidermis. | MONDO:0005012 | +| MONDO:0970910 | metastatic melanoma in the lymph nodes | NCIT:C205131 | MONDO:equivalentTo | Metastatic Melanoma in the Lymph Nodes | A melanoma that has spread to the lymph nodes from a cutaneous or extracutaneous primary site. | MONDO:0005191|MONDO:0005438 | +| MONDO:0970911 | platinum-sensitive endometrial carcinoma | NCIT:C205187 | MONDO:equivalentTo | Platinum-Sensitive Endometrial Carcinoma | An endometrial carcinoma that has a documented response to platinum-based chemotherapy. | MONDO:0002447 | +| MONDO:0970912 | early stage cervical carcinoma | NCIT:C205287 | MONDO:equivalentTo | Early Stage Cervical Carcinoma | A stage term that refers to cervical carcinoma stages IA, IB, and IIA. | MONDO:0005131 | +| MONDO:0970913 | early stage clear cell renal cell carcinoma | NCIT:C205289 | MONDO:equivalentTo | Early Stage Clear Cell Renal Cell Carcinoma | A stage term referring to clear cell renal cell carcinoma that presents as a small tumor and is confined to the kidney. | MONDO:0005005 | +| MONDO:0970914 | early stage colorectal carcinoma | NCIT:C205290 | MONDO:equivalentTo | Early Stage Colorectal Carcinoma | A stage term referring to colorectal carcinoma that is limited to the colon/rectum or local lymph nodes, without metastasis to distant anatomic sites. | MONDO:0024331 | +| MONDO:0970915 | early stage endometrial carcinoma | NCIT:C205295 | MONDO:equivalentTo | Early Stage Endometrial Carcinoma | A stage term referring to endometrial carcinoma that is confined to the uterus. | MONDO:0002447 | +| MONDO:0970916 | early stage esophageal carcinoma | NCIT:C205298 | MONDO:equivalentTo | Early Stage Esophageal Carcinoma | A stage term referring to esophageal carcinoma that is confined to the esophageal mucosa or submucosa. | MONDO:0019086 | +| MONDO:0970917 | early stage hepatocellular carcinoma | NCIT:C205301 | MONDO:equivalentTo | Early Stage Hepatocellular Carcinoma | A stage term referring to hepatocellular carcinoma that presents as a single tumor with the largest diameter measuring 2 cm or less. The liver function is well-preserved and there is no vascular invasion or metastasis. (Barcelona Liver Cancer Classification). | MONDO:0007256 | +| MONDO:0970918 | early stage lung non-small cell carcinoma | NCIT:C205303 | MONDO:equivalentTo | Early Stage Lung Non-Small Cell Carcinoma | A stage term that refers to lung non-small cell carcinoma stages I, II, and IIIA. | MONDO:0005233 | +| MONDO:0970919 | early stage malignant skin neoplasm | NCIT:C205307 | MONDO:equivalentTo | Early Stage Malignant Skin Neoplasm | A stage term that refers to a malignant tumor confined to a limited area of the skin without lymph node or distant metastases. | MONDO:0002898 | +| MONDO:0970920 | primary cutaneous nut adnexal carcinoma | NCIT:C205357 | MONDO:equivalentTo | Primary Cutaneous NUT Adnexal Carcinoma | A very rare carcinoma that arises from adnexal structures in the skin. It is characterized by mutations and rearrangement of the NUT gene. It presents as a papular or nodular lesion and has been described in the hand, shoulder, trunk, and lower limb. Histologically, there is a proliferation of malignant epithelial cells in the dermis and/or subcutaneous tissue. The tumor cells display round nuclei with prominent single nucleoli. Features include the presence of small round ducts and foci of abrupt keratinization. | MONDO:0005563|MONDO:0006973 | +| MONDO:0970921 | trichogerminoma | NCIT:C205371 | MONDO:equivalentTo | Trichogerminoma | A rare subtype of trichoblastoma characterized by the presence of lobules of basaloid cells. The lobules are separated by fibrous stroma. It is associated with the expression of recurrent FOXK1/GRHL and GPS2/GRHL gene fusions. | MONDO:0020593 | +| MONDO:0970922 | apocrine cystadenoma | NCIT:C205459 | MONDO:equivalentTo | Apocrine Cystadenoma | A rare, benign cystic neoplasm that arises from the apocrine gland. It is characterized by the presence of papillary-like epithelial projections and more complex architectural patterns compared to apocrine hidrocystoma. | MONDO:0002804|MONDO:0002369 | +| MONDO:0970923 | eccrine poroma | NCIT:C205462 | MONDO:equivalentTo | Eccrine Poroma | A poroma with eccrine differentiation. | MONDO:0006738|MONDO:0024247 | +| MONDO:0970924 | hidroacanthoma simplex | NCIT:C205475 | MONDO:equivalentTo | Hidroacanthoma Simplex | A poroma characterized by the presence of aggregates of basaloid cells confined to the epidermis. | MONDO:0006738 | +| MONDO:0970925 | solid cystic hidradenoma | NCIT:C205539 | MONDO:equivalentTo | Solid Cystic Hidradenoma | A hidradenoma characterized by the presence of solid lobular neoplastic cell proliferations and cystic spaces filled with homogeneous eosinophilic material. | MONDO:0002805 | +| MONDO:0970926 | sialoblastoma | NCIT:C35837 | MONDO:equivalentTo | Sialoblastoma | A rare, malignant primitive neoplasm that occurs in the salivary glands. Most tumors arise from the parotid gland, followed by the submandibular gland, and rarely the minor salivary glands. It is usually diagnosed during the neonatal period and presents with painless face swelling. | MONDO:0004669 | +| MONDO:0970927 | cribriform trichoblastoma | NCIT:C43322 | MONDO:equivalentTo | Cribriform Trichoblastoma | A trichoblastoma characterized by the presence of neoplastic epithelial cells forming cribriform patterns. | MONDO:0020593 | +| MONDO:0970928 | lung neuroendocrine carcinoma | NCIT:C45569 | MONDO:equivalentTo | Lung Neuroendocrine Carcinoma | A high grade malignant neoplasm that arises from the lung and is characterized by the presence of malignant neuroendocrine cells. This category includes small cell lung carcinoma, large cell lung neuroendocrine carcinoma, and combined lung carcinoma. | MONDO:0005454|MONDO:0005138|MONDO:0002120 | +| MONDO:0970929 | branchioma | NCIT:C53595 | MONDO:equivalentTo | Branchioma | A rare, benign, well-circumscribed or encapsulated tumor that arises from the neck and occurs in adults. It is characterized by the presence of spindle cells, epithelial islands, and adipose tissue. | MONDO:0021455 | +| MONDO:0970930 | ear carcinoma | NCIT:C54262 | MONDO:equivalentTo | Ear Carcinoma | A carcinoma that arises from the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. | MONDO:0003277|MONDO:0002038 | +| MONDO:0970931 | intracranial melanoma | NCIT:C5442 | MONDO:equivalentTo | Intracranial Melanoma | A melanoma that arises from the leptomeninges within the cranium. | MONDO:0021632|MONDO:0001657|MONDO:0003761 | +| MONDO:0970932 | meckel diverticulum neuroendocrine tumor g1 | NCIT:C6424 | MONDO:equivalentTo | Meckel Diverticulum Neuroendocrine Tumor G1 | A well differentiated, low grade neuroendocrine neoplasm that arises in a Meckel diverticulum. | MONDO:0021533 | +| MONDO:0970933 | duodenal neuroendocrine tumor g1 | NCIT:C6425 | MONDO:equivalentTo | Duodenal Neuroendocrine Tumor G1 | A well differentiated, low grade neuroendocrine neoplasm that arises from the duodenum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. | MONDO:0015063|MONDO:0000540 | +| MONDO:0970934 | intracranial myeloid sarcoma | NCIT:C7008 | MONDO:equivalentTo | Intracranial Myeloid Sarcoma | A myeloid sarcoma that affects the meninges or the cerebral hemispheres. | MONDO:0001657|MONDO:0003641|MONDO:0021632|MONDO:0006861 | +| MONDO:0970935 | hamartomatous polyp | NCIT:C8372 | MONDO:equivalentTo | Hamartomatous Polyp | A polyp characterized by an overgrowth of mature cells and tissues that normally occur in the affected area. | | +| MONDO:0970936 | well differentiated fibrosarcoma | NCIT:C9025 | MONDO:equivalentTo | Well Differentiated Fibrosarcoma | A well-differentiated malignant neoplasm arising from the deep soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO:0005164 | +| MONDO:0970937 | poorly differentiated angiosarcoma | NCIT:C9031 | MONDO:equivalentTo | Poorly Differentiated Angiosarcoma | An angiosarcoma characterized by the presence of significant cytologic atypia, necrosis and high mitotic activity. | MONDO:0016982 | +| MONDO:0970938 | well differentiated leiomyosarcoma | NCIT:C9389 | MONDO:equivalentTo | Well Differentiated Leiomyosarcoma | Grade I malignant smooth muscle neoplasm. It is characterized by a proliferation of neoplastic spindle cells. | MONDO:0005058 | +| MONDO:0970939 | poorly differentiated fibrosarcoma | NCIT:C9404 | MONDO:equivalentTo | Poorly Differentiated Fibrosarcoma | A usually aggressive malignant neoplasm arising from the deep soft tissue. It is characterized by the presence of poorly-differentiated spindle-shaped fibroblasts, collagenous stroma formation and increased mitotic activity. | MONDO:0005164 | +| MONDO:0970940 | low grade sarcoma | NCIT:C9417 | MONDO:equivalentTo | Low Grade Sarcoma | A sarcoma with the morphologic features of a low-grade tumor and presence of cellular differentiation. | MONDO:0005089 | +| MONDO:0970941 | high grade sarcoma | NCIT:C9418 | MONDO:equivalentTo | High Grade Sarcoma | A sarcoma with the morphologic features of a high-grade tumor and lack of cellular differentiation. | MONDO:0005089 | +| MONDO:0975792 | childhood glioblastoma | NCIT:C5136 | MONDO:equivalentTo | Childhood Glioblastoma | A glioblastoma that occurs during childhood. | MONDO:0002505|MONDO:0018177|MONDO:1010030 | +| MONDO:0975793 | childhood anaplastic oligodendroglioma | NCIT:C5447 | MONDO:equivalentTo | Childhood Anaplastic Oligodendroglioma | An anaplastic oligodendroglioma that arises from the central nervous system and occurs during childhood. | MONDO:1010030|MONDO:0016696 | \ No newline at end of file diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index 432f6515..575af36b 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,7 +2,15 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:----------------------------------------|:---------------------|:---------------------------|:----------------------------------------|:--------------|:--------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0975761 | immunodeficiency 126, susceptibility to | OMIM:620931 | MONDO:equivalentTo | immunodeficiency 126, susceptibility to | | MONDO:0021094 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:---------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:---------------------------------------------------------------------------------------------------|:--------------|:--------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0975795 | kariminejad-reversade neurodevelopmental syndrome | OMIM:620937 | MONDO:equivalentTo | kariminejad-reversade neurodevelopmental syndrome | | | +| MONDO:0975796 | spastic paraplegia 93, autosomal recessive | OMIM:620938 | MONDO:equivalentTo | spastic paraplegia 93, autosomal recessive | | MONDO:0019064 | +| MONDO:0975797 | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | OMIM:620939 | MONDO:equivalentTo | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | | | +| MONDO:0975798 | methylmalonic aciduria and homocystinuria, cbll type | OMIM:620940 | MONDO:equivalentTo | methylmalonic aciduria and homocystinuria, cbll type | | MONDO:0016826 | +| MONDO:0975799 | brain malformation renal syndrome | OMIM:620943 | MONDO:equivalentTo | brain malformation renal syndrome | | | +| MONDO:0975800 | spinocerebellar ataxia 51 | OMIM:620947 | MONDO:equivalentTo | spinocerebellar ataxia 51 | | MONDO:0020380 | +| MONDO:0975801 | encephalopathy, acute transient | OMIM:620950 | MONDO:equivalentTo | encephalopathy, acute transient | | | +| MONDO:0975802 | homocystinuria-megaloblastic anemia | OMIMPS:236270 | MONDO:equivalentTo | Homocystinuria-megaloblastic anemia | | | +| MONDO:0975803 | methylmalonic aciduria | OMIMPS:251000 | MONDO:equivalentTo | Methylmalonic aciduria | | | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 9b90176d..94de3ecc 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -2,13 +2,13 @@ | Ontology | Tot terms | Tot excluded | Tot deprecated | Tot deprecated unmapped | Tot mappable _(!excluded, !deprecated)_ | Tot mapped _(mappable)_ | Tot unmapped _(mappable)_ | % unmapped _(mappable)_ | |:-------------------------------------------------|:------------|:---------------|:-----------------|:--------------------------|:------------------------------------------|:--------------------------|:----------------------------|:--------------------------| | [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% | -| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,163 | 79,232 | 98.6% | -| [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 57,713 | 0 | 5,594 | 5,594 | 52,119 | 4,107 | 48,012 | 92.1% | -| [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,216 | 15,965 | 3,675 | 12,290 | 77.0% | +| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,165 | 79,230 | 98.6% | +| [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 57,713 | 0 | 5,594 | 5,594 | 52,119 | 4,108 | 48,011 | 92.1% | +| [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,216 | 15,965 | 3,676 | 12,289 | 77.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | | [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,257 | 9,291 | 9,214 | 77 | 0.8% | -| [DOID](./unmapped_doid.md) | 14,132 | 2,660 | 2,488 | 2,475 | 11,470 | 11,417 | 53 | 0.5% | -| [OMIM](./unmapped_omim.md) | 29,454 | 19,330 | 1,366 | 1,324 | 8,759 | 8,758 | 1 | 0.0% | +| [DOID](./unmapped_doid.md) | 14,158 | 2,660 | 2,488 | 2,478 | 11,496 | 11,458 | 38 | 0.3% | +| [OMIM](./unmapped_omim.md) | 29,473 | 19,341 | 1,366 | 1,324 | 8,767 | 8,758 | 9 | 0.1% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index 52e6b830..1adb6dc2 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -2,58 +2,43 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:--------------------------------------------------------------------| -| DOID:0070595 | X-linked spermatogenic failure 4 | -| DOID:0070596 | X-linked spermatogenic failure 5 | -| DOID:0070597 | X-linked spermatogenic failure 6 | -| DOID:0070598 | X-linked spermatogenic failure 7 | -| DOID:0070599 | X-linked spermatogenic failure 8 | -| DOID:2934 | aleutian mink disease | -| DOID:0081455 | auto-brewery syndrome | -| DOID:0060854 | autosomal recessive pseudohypoaldosteronism type 1 | -| DOID:0081456 | bladder fermentation syndrome | -| DOID:5154 | borna disease | -| DOID:0060160 | childhood spinal muscular atrophy | -| DOID:0111368 | cholesterol-ester transfer protein deficiency | -| DOID:2536 | chronic inflammatory demyelinating polyneuritis | -| DOID:4668 | congenital kyphosis | -| DOID:0070564 | dialysis disequilibrium syndrome | -| DOID:0050156 | idiopathic pulmonary fibrosis | -| DOID:0081457 | intrathyroid thymic carcinoma | -| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | -| DOID:146 | papilledema | -| DOID:9373 | postural kyphosis | -| DOID:0070565 | spermatogenic failure 66 | -| DOID:0070566 | spermatogenic failure 67 | -| DOID:0070567 | spermatogenic failure 68 | -| DOID:0070568 | spermatogenic failure 69 | -| DOID:0070569 | spermatogenic failure 70 | -| DOID:0070570 | spermatogenic failure 71 | -| DOID:0070571 | spermatogenic failure 72 | -| DOID:0070572 | spermatogenic failure 73 | -| DOID:0070573 | spermatogenic failure 74 | -| DOID:0070574 | spermatogenic failure 75 | -| DOID:0070575 | spermatogenic failure 76 | -| DOID:0070576 | spermatogenic failure 77 | -| DOID:0070577 | spermatogenic failure 78 | -| DOID:0070578 | spermatogenic failure 79 | -| DOID:0070579 | spermatogenic failure 80 | -| DOID:0070580 | spermatogenic failure 81 | -| DOID:0070581 | spermatogenic failure 82 | -| DOID:0070582 | spermatogenic failure 83 | -| DOID:0070583 | spermatogenic failure 84 | -| DOID:0070584 | spermatogenic failure 85 | -| DOID:0070585 | spermatogenic failure 86 | -| DOID:0070586 | spermatogenic failure 87 | -| DOID:0070587 | spermatogenic failure 88 | -| DOID:0070588 | spermatogenic failure 89 | -| DOID:0070589 | spermatogenic failure 90 | -| DOID:0070590 | spermatogenic failure 91 | -| DOID:0070591 | spermatogenic failure 92 | -| DOID:0070592 | spermatogenic failure 93 | -| DOID:0070593 | spermatogenic failure 94 | -| DOID:0070594 | spermatogenic failure 95 | -| DOID:0081458 | thyroid gland cribriform morular carcinoma | -| DOID:0081459 | thyroid gland mixed medullary and follicular cell-derived carcinoma | -| DOID:0081460 | thyroid gland mucinous carcinoma | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:----------------------------------------------------------------------------------------------| +| DOID:2934 | aleutian mink disease | +| DOID:0070601 | autosomal dominant nonsyndromic deafness 37 | +| DOID:0070602 | autosomal dominant nonsyndromic deafness 80 | +| DOID:0070608 | autosomal dominant nonsyndromic deafness 81 | +| DOID:0070603 | autosomal dominant nonsyndromic deafness 82 | +| DOID:0070609 | autosomal dominant nonsyndromic deafness 83 | +| DOID:0070604 | autosomal dominant nonsyndromic deafness 84 | +| DOID:0070605 | autosomal dominant nonsyndromic deafness 85 | +| DOID:0070610 | autosomal dominant nonsyndromic deafness 86 | +| DOID:0070606 | autosomal dominant nonsyndromic deafness 87 | +| DOID:0070611 | autosomal dominant nonsyndromic deafness 88 | +| DOID:0070612 | autosomal dominant nonsyndromic deafness 89 | +| DOID:0070607 | autosomal dominant nonsyndromic deafness 90 | +| DOID:0060854 | autosomal recessive pseudohypoaldosteronism type 1 | +| DOID:0060992 | bent bone dysplasia syndrome 1 | +| DOID:0060993 | bent bone dysplasia syndrome 2 | +| DOID:5154 | borna disease | +| DOID:0060160 | childhood spinal muscular atrophy | +| DOID:0111368 | cholesterol-ester transfer protein deficiency | +| DOID:0070614 | chromosome 11 partial duplication syndrome | +| DOID:2536 | chronic inflammatory demyelinating polyneuritis | +| DOID:0060991 | congenital disorder of deglycosylation | +| DOID:0060990 | congenital disorder of deglycosylation 2 | +| DOID:4668 | congenital kyphosis | +| DOID:0070564 | dialysis disequilibrium syndrome | +| DOID:0060984 | digenic dyskeratosis congenita | +| DOID:0060994 | encephalopathy due to defective mitochondrial and peroxisomal fission 2 | +| DOID:0070613 | familial renal glucosuria | +| DOID:0050156 | idiopathic pulmonary fibrosis | +| DOID:0070600 | intellectual disability and myopathy syndrome | +| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | +| DOID:0060988 | pancreatic agenesis 2 | +| DOID:146 | papilledema | +| DOID:9373 | postural kyphosis | +| DOID:0060987 | preaxial polydactyly I | +| DOID:0060986 | preaxial polydactyly II | +| DOID:0060985 | preaxial polydactyly type IV | +| DOID:0060989 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | \ No newline at end of file diff --git a/docs/reports/unmapped_icd10cm.md b/docs/reports/unmapped_icd10cm.md index efdcf83d..dfdab133 100644 --- a/docs/reports/unmapped_icd10cm.md +++ b/docs/reports/unmapped_icd10cm.md @@ -52855,7 +52855,6 @@ | ICD10CM:H52.521 | Paresis of accommodation, right eye | | ICD10CM:H52.529 | Paresis of accommodation, unspecified eye | | ICD10CM:G20 | Parkinson's disease | -| ICD10CM:I48.0 | Paroxysmal atrial fibrillation | | ICD10CM:D59.5 | Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli] | | ICD10CM:I47 | Paroxysmal tachycardia | | ICD10CM:I47.9 | Paroxysmal tachycardia, unspecified | @@ -54445,7 +54444,6 @@ | ICD10CM:M76.70 | Peroneal tendinitis, unspecified leg | | ICD10CM:E71.50 | Peroxisomal disorder, unspecified | | ICD10CM:E71.5 | Peroxisomal disorders | -| ICD10CM:I48.1 | Persistent atrial fibrillation | | ICD10CM:Q43.7 | Persistent cloaca | | ICD10CM:P29.3 | Persistent fetal circulation | | ICD10CM:E32.0 | Persistent hyperplasia of thymus | diff --git a/docs/reports/unmapped_icd11foundation.md b/docs/reports/unmapped_icd11foundation.md index 9a47963e..789649cf 100644 --- a/docs/reports/unmapped_icd11foundation.md +++ b/docs/reports/unmapped_icd11foundation.md @@ -35356,7 +35356,6 @@ | icd11.foundation:851453031 | Parotid gland infection | | icd11.foundation:1495830927 | Parotid region inflammation | | icd11.foundation:2108588383 | Parotitis disorder (TM2) | -| icd11.foundation:542703670 | Paroxysmal atrial fibrillation | | icd11.foundation:1174035422 | Paroxysmal atrial flutter | | icd11.foundation:1683005789 | Paroxysmal autonomic disorders | | icd11.foundation:799425295 | Paroxysmal disorders (TM2) | diff --git a/docs/reports/unmapped_ncit.md b/docs/reports/unmapped_ncit.md index 6bd69a88..d0327b26 100644 --- a/docs/reports/unmapped_ncit.md +++ b/docs/reports/unmapped_ncit.md @@ -2058,7 +2058,6 @@ | NCIT:C189870 | Childhood Malignant Digestive System Neoplasm | | NCIT:C190070 | Childhood Malignant Endocrine Neoplasm | | NCIT:C189269 | Childhood Malignant Genitourinary System Neoplasm | -| NCIT:C202298 | Childhood Malignant Glioma | | NCIT:C190121 | Childhood Malignant Head and Neck Neoplasm | | NCIT:C198104 | Childhood Malignant Kidney Neoplasm Excluding Renal Cell Carcinoma by Toronto Guidelines v2 Stage | | NCIT:C198085 | Childhood Malignant Kidney Neoplasm Excluding Renal Cell Carcinoma by Toronto Guidelines v2 Stage, Children's Oncology Group (COG) Protocol | diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 589a958e..2f0e2171 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,6 +2,14 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:----------------------------------------| -| OMIM:620931 | immunodeficiency 126, susceptibility to | \ No newline at end of file +| subject_id | subject_label | +|:--------------|:---------------------------------------------------------------------------------------------------| +| OMIMPS:236270 | Homocystinuria-megaloblastic anemia | +| OMIMPS:251000 | Methylmalonic aciduria | +| OMIM:620943 | brain malformation renal syndrome | +| OMIM:620950 | encephalopathy, acute transient | +| OMIM:620937 | kariminejad-reversade neurodevelopmental syndrome | +| OMIM:620940 | methylmalonic aciduria and homocystinuria, cbll type | +| OMIM:620939 | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | +| OMIM:620938 | spastic paraplegia 93, autosomal recessive | +| OMIM:620947 | spinocerebellar ataxia 51 | \ No newline at end of file diff --git a/python-requirements-apple-silicon.txt b/python-requirements-apple-silicon.txt index 7af503b9..3e9f7baa 100644 --- a/python-requirements-apple-silicon.txt +++ b/python-requirements-apple-silicon.txt @@ -6,7 +6,6 @@ attrs==23.1.0 Babel==2.13.1 bcp47==0.0.4 beautifulsoup4==4.12.2 -bioregistry==0.10.110 cachetools==5.3.2 cattrs==23.2.2 certifi==2023.11.17 diff --git a/python-requirements-unlocked.txt b/python-requirements-unlocked.txt index 3460c926..29b40172 100644 --- a/python-requirements-unlocked.txt +++ b/python-requirements-unlocked.txt @@ -1,4 +1,3 @@ -bioregistry curies jinja2 oaklib>=0.5.20 diff --git a/python-requirements.txt b/python-requirements.txt index 4731bf75..534aea6a 100644 --- a/python-requirements.txt +++ b/python-requirements.txt @@ -11,7 +11,6 @@ attrs==21.4.0 Babel==2.10.1 bcp47==0.0.4 beautifulsoup4==4.12.2 -bioregistry==0.6.99 bleach==5.0.0 cattrs==22.2.0 certifi==2021.10.8 diff --git a/src/analysis/problematic_exclusions.py b/src/analysis/problematic_exclusions.py index fa733c85..12457b0b 100644 --- a/src/analysis/problematic_exclusions.py +++ b/src/analysis/problematic_exclusions.py @@ -77,9 +77,8 @@ def load_and_format_tsv(path: str, prefix_map: Dict[str, str]) -> pd.DataFrame: return df2 -# TODO: refactor to use utils.py get_labels() +# todo: refactor to use utils.py get_labels() # todo: In the future, refactor to use OAK. -# # noinspection DuplicatedCode def populate_labels( df: pd.DataFrame, onto_path: str, prefix_map: Dict[str, str], template_str=SPARQL_STR_GET_LABELS, @@ -87,7 +86,7 @@ def populate_labels( ) -> pd.DataFrame: """Get labels for terms - # TODO: use this when OAK ready + # todo: use this when OAK ready # from oaklib.resource import OntologyResource # from oaklib.implementations.sqldb.sql_implementation import SqlImplementation # # https://incatools.github.io/ontology-access-kit/introduction.html#basic-python-example @@ -110,7 +109,7 @@ def populate_labels( terms = [x for x in terms if any([x.startswith(y) for y in prefix_map.keys()])] # Instantiate template - prefix_sparql_strings = [f'prefix {k}: <{v}>' for k, v in prefix_map.items()] + prefix_sparql_strings = [f'prefix {k}: <{v}>\n' for k, v in prefix_map.items()] template_obj = Template(template_str) instantiated_str = template_obj.render( prefixes=prefix_sparql_strings, diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index 2aa58b5c..90b6db12 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -1553,10 +1553,10 @@ DOID:0050876 Caroli disease oboInOwl:hasDbXref GARD:6002 semapv:UnspecifiedMatch DOID:0050876 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref NCI:C84619 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref GARD:4203 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref ORDO:2805 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis skos:exactMatch OMIM:260370 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis 1 oboInOwl:hasDbXref GARD:4203 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis 1 oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis 1 oboInOwl:hasDbXref ORDO:2805 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis 1 skos:exactMatch OMIM:260370 semapv:UnspecifiedMatching DOID:0050879 fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref OMIM:300623 semapv:UnspecifiedMatching DOID:0050879 fragile X-associated tremor/ataxia syndrome skos:exactMatch OMIM:300623 semapv:UnspecifiedMatching DOID:0050880 Koolen de Vries syndrome oboInOwl:hasDbXref GARD:10727 semapv:UnspecifiedMatching @@ -3875,11 +3875,11 @@ DOID:0060719 autosomal recessive congenital ichthyosis 10 skos:exactMatch OMIM:6 DOID:0060720 autosomal recessive congenital ichthyosis 11 oboInOwl:hasDbXref ICD10CM:Q80.8 semapv:UnspecifiedMatching DOID:0060720 autosomal recessive congenital ichthyosis 11 oboInOwl:hasDbXref OMIM:602400 semapv:UnspecifiedMatching DOID:0060720 autosomal recessive congenital ichthyosis 11 skos:exactMatch OMIM:602400 semapv:UnspecifiedMatching -DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref ICD10CM:E77.8 semapv:UnspecifiedMatching -DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref MESH:C000626124 semapv:UnspecifiedMatching -DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref OMIM:615273 semapv:UnspecifiedMatching -DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref ORDO:404454 semapv:UnspecifiedMatching -DOID:0060728 NGLY1-deficiency skos:exactMatch OMIM:615273 semapv:UnspecifiedMatching +DOID:0060728 congenital disorder of deglycosylation 1 oboInOwl:hasDbXref ICD10CM:E77.8 semapv:UnspecifiedMatching +DOID:0060728 congenital disorder of deglycosylation 1 oboInOwl:hasDbXref MESH:C000626124 semapv:UnspecifiedMatching +DOID:0060728 congenital disorder of deglycosylation 1 oboInOwl:hasDbXref OMIM:615273 semapv:UnspecifiedMatching +DOID:0060728 congenital disorder of deglycosylation 1 oboInOwl:hasDbXref ORDO:404454 semapv:UnspecifiedMatching +DOID:0060728 congenital disorder of deglycosylation 1 skos:exactMatch OMIM:615273 semapv:UnspecifiedMatching DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref OMIM:128100 semapv:UnspecifiedMatching DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref ORDO:256 semapv:UnspecifiedMatching @@ -4818,6 +4818,30 @@ DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch OMIM:620189 semapv:UnspecifiedMatching DOID:0060983 sitosterolemia 2 oboInOwl:hasDbXref OMIM:618666 semapv:UnspecifiedMatching DOID:0060983 sitosterolemia 2 skos:exactMatch OMIM:618666 semapv:UnspecifiedMatching +DOID:0060984 digenic dyskeratosis congenita oboInOwl:hasDbXref OMIM:620040 semapv:UnspecifiedMatching +DOID:0060984 digenic dyskeratosis congenita skos:exactMatch OMIM:620040 semapv:UnspecifiedMatching +DOID:0060985 preaxial polydactyly type IV oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching +DOID:0060985 preaxial polydactyly type IV skos:exactMatch OMIM:174700 semapv:UnspecifiedMatching +DOID:0060986 preaxial polydactyly II oboInOwl:hasDbXref GARD:5289 semapv:UnspecifiedMatching +DOID:0060986 preaxial polydactyly II oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching +DOID:0060986 preaxial polydactyly II oboInOwl:hasDbXref ORDO:93336 semapv:UnspecifiedMatching +DOID:0060986 preaxial polydactyly II skos:exactMatch OMIM:174500 semapv:UnspecifiedMatching +DOID:0060987 preaxial polydactyly I oboInOwl:hasDbXref GARD:4417 semapv:UnspecifiedMatching +DOID:0060987 preaxial polydactyly I oboInOwl:hasDbXref OMIM:174400 semapv:UnspecifiedMatching +DOID:0060987 preaxial polydactyly I oboInOwl:hasDbXref ORDO:93339 semapv:UnspecifiedMatching +DOID:0060987 preaxial polydactyly I skos:exactMatch OMIM:174400 semapv:UnspecifiedMatching +DOID:0060988 pancreatic agenesis 2 oboInOwl:hasDbXref OMIM:615935 semapv:UnspecifiedMatching +DOID:0060988 pancreatic agenesis 2 skos:exactMatch OMIM:615935 semapv:UnspecifiedMatching +DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 oboInOwl:hasDbXref OMIM:617877 semapv:UnspecifiedMatching +DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch OMIM:617877 semapv:UnspecifiedMatching +DOID:0060990 congenital disorder of deglycosylation 2 oboInOwl:hasDbXref OMIM:619775 semapv:UnspecifiedMatching +DOID:0060990 congenital disorder of deglycosylation 2 skos:exactMatch OMIM:619775 semapv:UnspecifiedMatching +DOID:0060992 bent bone dysplasia syndrome 1 oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching +DOID:0060992 bent bone dysplasia syndrome 1 skos:exactMatch OMIM:614592 semapv:UnspecifiedMatching +DOID:0060993 bent bone dysplasia syndrome 2 oboInOwl:hasDbXref OMIM:620076 semapv:UnspecifiedMatching +DOID:0060993 bent bone dysplasia syndrome 2 skos:exactMatch OMIM:620076 semapv:UnspecifiedMatching +DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching +DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch OMIM:617086 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 semapv:UnspecifiedMatching DOID:0070002 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching @@ -6539,6 +6563,48 @@ DOID:0070598 X-linked spermatogenic failure 7 oboInOwl:hasDbXref OMIM:301106 sem DOID:0070598 X-linked spermatogenic failure 7 skos:exactMatch OMIM:301106 semapv:UnspecifiedMatching DOID:0070599 X-linked spermatogenic failure 8 oboInOwl:hasDbXref OMIM:301119 semapv:UnspecifiedMatching DOID:0070599 X-linked spermatogenic failure 8 skos:exactMatch OMIM:301119 semapv:UnspecifiedMatching +DOID:0070600 intellectual disability and myopathy syndrome oboInOwl:hasDbXref OMIM:619719 semapv:UnspecifiedMatching +DOID:0070600 intellectual disability and myopathy syndrome skos:exactMatch OMIM:619719 semapv:UnspecifiedMatching +DOID:0070601 autosomal dominant nonsyndromic deafness 37 oboInOwl:hasDbXref OMIM:618533 semapv:UnspecifiedMatching +DOID:0070601 autosomal dominant nonsyndromic deafness 37 skos:exactMatch OMIM:618533 semapv:UnspecifiedMatching +DOID:0070602 autosomal dominant nonsyndromic deafness 80 oboInOwl:hasDbXref OMIM:619274 semapv:UnspecifiedMatching +DOID:0070602 autosomal dominant nonsyndromic deafness 80 skos:exactMatch OMIM:619274 semapv:UnspecifiedMatching +DOID:0070603 autosomal dominant nonsyndromic deafness 82 oboInOwl:hasDbXref OMIM:619804 semapv:UnspecifiedMatching +DOID:0070603 autosomal dominant nonsyndromic deafness 82 skos:exactMatch OMIM:619804 semapv:UnspecifiedMatching +DOID:0070604 autosomal dominant nonsyndromic deafness 84 oboInOwl:hasDbXref OMIM:619810 semapv:UnspecifiedMatching +DOID:0070604 autosomal dominant nonsyndromic deafness 84 skos:exactMatch OMIM:619810 semapv:UnspecifiedMatching +DOID:0070605 autosomal dominant nonsyndromic deafness 85 oboInOwl:hasDbXref OMIM:620227 semapv:UnspecifiedMatching +DOID:0070605 autosomal dominant nonsyndromic deafness 85 skos:exactMatch OMIM:620227 semapv:UnspecifiedMatching +DOID:0070606 autosomal dominant nonsyndromic deafness 87 oboInOwl:hasDbXref OMIM:620281 semapv:UnspecifiedMatching +DOID:0070606 autosomal dominant nonsyndromic deafness 87 skos:exactMatch OMIM:620281 semapv:UnspecifiedMatching +DOID:0070607 autosomal dominant nonsyndromic deafness 90 oboInOwl:hasDbXref OMIM:620722 semapv:UnspecifiedMatching +DOID:0070607 autosomal dominant nonsyndromic deafness 90 skos:exactMatch OMIM:620722 semapv:UnspecifiedMatching +DOID:0070608 autosomal dominant nonsyndromic deafness 81 oboInOwl:hasDbXref OMIM:619500 semapv:UnspecifiedMatching +DOID:0070608 autosomal dominant nonsyndromic deafness 81 skos:exactMatch OMIM:619500 semapv:UnspecifiedMatching +DOID:0070609 autosomal dominant nonsyndromic deafness 83 oboInOwl:hasDbXref OMIM:619808 semapv:UnspecifiedMatching +DOID:0070609 autosomal dominant nonsyndromic deafness 83 skos:exactMatch OMIM:619808 semapv:UnspecifiedMatching +DOID:0070610 autosomal dominant nonsyndromic deafness 86 oboInOwl:hasDbXref OMIM:620280 semapv:UnspecifiedMatching +DOID:0070610 autosomal dominant nonsyndromic deafness 86 skos:exactMatch OMIM:620280 semapv:UnspecifiedMatching +DOID:0070611 autosomal dominant nonsyndromic deafness 88 oboInOwl:hasDbXref OMIM:620283 semapv:UnspecifiedMatching +DOID:0070611 autosomal dominant nonsyndromic deafness 88 skos:exactMatch OMIM:620283 semapv:UnspecifiedMatching +DOID:0070612 autosomal dominant nonsyndromic deafness 89 oboInOwl:hasDbXref OMIM:620284 semapv:UnspecifiedMatching +DOID:0070612 autosomal dominant nonsyndromic deafness 89 skos:exactMatch OMIM:620284 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria oboInOwl:hasDbXref GARD:7548 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria oboInOwl:hasDbXref MESH:D006030 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria oboInOwl:hasDbXref OMIM:233100 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria oboInOwl:hasDbXref ORDO:69076 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria oboInOwl:hasDbXref UMLS:C3245525 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria skos:exactMatch GARD:7548 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria skos:exactMatch MESH:D006030 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria skos:exactMatch OMIM:233100 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria skos:exactMatch ORDO:69076 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria skos:exactMatch SNOMEDCT_US_2020_03_01:226309007 semapv:UnspecifiedMatching +DOID:0070613 familial renal glucosuria skos:exactMatch UMLS:C3245525 semapv:UnspecifiedMatching +DOID:0070614 chromosome 11 partial duplication syndrome oboInOwl:hasDbXref ORDO:262653 semapv:UnspecifiedMatching +DOID:0070614 chromosome 11 partial duplication syndrome oboInOwl:hasDbXref UMLS:C4518499 semapv:UnspecifiedMatching +DOID:0070614 chromosome 11 partial duplication syndrome skos:exactMatch ORDO:262653 semapv:UnspecifiedMatching +DOID:0070614 chromosome 11 partial duplication syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:726350006 semapv:UnspecifiedMatching +DOID:0070614 chromosome 11 partial duplication syndrome skos:exactMatch UMLS:C4518499 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref UMLS:C0005940 semapv:UnspecifiedMatching @@ -17778,8 +17844,8 @@ DOID:0112356 spermatogenic failure 63 oboInOwl:hasDbXref OMIM:619689 semapv:Unsp DOID:0112356 spermatogenic failure 63 skos:exactMatch OMIM:619689 semapv:UnspecifiedMatching DOID:0112357 spermatogenic failure 59 oboInOwl:hasDbXref OMIM:619645 semapv:UnspecifiedMatching DOID:0112357 spermatogenic failure 59 skos:exactMatch OMIM:619645 semapv:UnspecifiedMatching -DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies oboInOwl:hasDbXref OMIM:619184 semapv:UnspecifiedMatching -DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch OMIM:619184 semapv:UnspecifiedMatching +DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 oboInOwl:hasDbXref OMIM:619184 semapv:UnspecifiedMatching +DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch OMIM:619184 semapv:UnspecifiedMatching DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay oboInOwl:hasDbXref OMIM:617641 semapv:UnspecifiedMatching DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch OMIM:617641 semapv:UnspecifiedMatching DOID:0112360 spondylocostal dysostosis 6 oboInOwl:hasDbXref OMIM:616566 semapv:UnspecifiedMatching @@ -20274,7 +20340,6 @@ DOID:1148 polydactyly oboInOwl:hasDbXref MESH:C562429 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref MESH:D017689 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref NCI:C87110 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:603596 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref UMLS:C0152427 semapv:UnspecifiedMatching @@ -25915,8 +25980,8 @@ DOID:1923 disorder of sexual development oboInOwl:hasDbXref UMLS:C0036875 semapv DOID:1924 hypogonadism oboInOwl:hasDbXref MESH:D007006 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref NCI:C9227 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:241100 semapv:UnspecifiedMatching -DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref UMLS:C0020619 semapv:UnspecifiedMatching +DOID:1924 hypogonadism skos:exactMatch OMIM:241100 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref GARD:6124 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref MESH:C536436 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref NCI:C35321 semapv:UnspecifiedMatching @@ -37918,11 +37983,12 @@ DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref UMLS:C0151620 semapv:Un DOID:9428 intracranial hypertension oboInOwl:hasDbXref MESH:D019586 semapv:UnspecifiedMatching DOID:9428 intracranial hypertension oboInOwl:hasDbXref NCI:C84791 semapv:UnspecifiedMatching DOID:9428 intracranial hypertension oboInOwl:hasDbXref UMLS:C0151740 semapv:UnspecifiedMatching -DOID:9432 renal glycosuria oboInOwl:hasDbXref GARD:7548 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref ICD9CM:271.4 semapv:UnspecifiedMatching -DOID:9432 renal glycosuria oboInOwl:hasDbXref OMIM:233100 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref UMLS:C0017980 semapv:UnspecifiedMatching -DOID:9432 renal glycosuria skos:exactMatch OMIM:233100 semapv:UnspecifiedMatching +DOID:9432 renal glycosuria skos:broadMatch ICD10CM:E74.818 semapv:UnspecifiedMatching +DOID:9432 renal glycosuria skos:exactMatch ICD9CM:271.4 semapv:UnspecifiedMatching +DOID:9432 renal glycosuria skos:exactMatch SNOMEDCT_US_2020_03_01:267430007 semapv:UnspecifiedMatching +DOID:9432 renal glycosuria skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching DOID:9439 chronic cholangitis oboInOwl:hasDbXref NCI:C35335 semapv:UnspecifiedMatching DOID:9439 chronic cholangitis oboInOwl:hasDbXref UMLS:C0267918 semapv:UnspecifiedMatching DOID:9442 cervical Mullerian papilloma oboInOwl:hasDbXref NCI:C40215 semapv:UnspecifiedMatching diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index a7d5e661..4e65c532 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/c1ce287b-1972-411a-b4d3-e2e6e5fd5254 +# mapping_set_id: https://w3id.org/sssom/mappings/a18a538b-ede7-49ec-87cd-9de708a78ba7 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index dcd83d28..60783944 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/2af0f4d5-0d59-41e0-a07e-c55ab33febf6 +# mapping_set_id: https://w3id.org/sssom/mappings/1436dca0-2b74-4db6-bf37-db22c44b84ca diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 5ae8ba23..bb1c243f 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/76d25e15-5572-4f35-828c-7bdfb8ab81c5 +# mapping_set_id: https://w3id.org/sssom/mappings/79dcd770-f17b-4e53-922d-53d0790729ff diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index 26df93a4..93d46622 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/281e599e-a8f8-4da2-82b0-d840044209b3 +# mapping_set_id: https://w3id.org/sssom/mappings/fc744708-b1ae-474f-aa0a-fb1d5c6dfb1e diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index d477dfee..62651b29 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/d94d2018-d62f-4be8-a197-56416748fd8f +# mapping_set_id: https://w3id.org/sssom/mappings/5c6175fe-1e15-4556-af2a-97162743263c # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index a069d6a8..ce6e3127 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/37e133c7-4858-4cfa-b999-bebf7399bba3 +# mapping_set_id: https://w3id.org/sssom/mappings/b8e0acc7-e2b5-45fe-adbc-ed9377a12c9a subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index 430f6bc1..89da1f6b 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -1977,7 +1977,7 @@ MONDO:0008957 skos:exactMatch OMIM:214290 cervical vertebrae, agenesis of semap MONDO:0008958 skos:exactMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0008959 skos:exactMatch OMIM:214350 chand syndrome semapv:UnspecifiedMatching MONDO:0008960 skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers semapv:UnspecifiedMatching -MONDO:0008961 skos:exactMatch OMIM:214400 charcot-marie-tooth disease, type 4a semapv:UnspecifiedMatching +MONDO:0008961 skos:exactMatch OMIM:214400 charcot-marie-tooth disease, demyelinating, type 4a semapv:UnspecifiedMatching MONDO:0008962 skos:exactMatch OMIM:214450 griscelli syndrome, type 1 semapv:UnspecifiedMatching MONDO:0008963 skos:exactMatch OMIM:214500 chediak-higashi syndrome semapv:UnspecifiedMatching MONDO:0008964 skos:exactMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:UnspecifiedMatching @@ -3955,7 +3955,7 @@ MONDO:0011062 skos:exactMatch OMIM:601374 aprosencephaly and cerebellar dysgene MONDO:0011063 skos:exactMatch OMIM:601375 ectodermal dysplasia, hidrotic, christianson-fourie type semapv:UnspecifiedMatching MONDO:0011064 skos:exactMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:UnspecifiedMatching MONDO:0011065 skos:exactMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:UnspecifiedMatching -MONDO:0011066 skos:exactMatch OMIM:601382 charcot-marie-tooth disease, type 4b1 semapv:UnspecifiedMatching +MONDO:0011066 skos:exactMatch OMIM:601382 charcot-marie-tooth disease, demyelinating, type 4b1 semapv:UnspecifiedMatching MONDO:0011067 skos:exactMatch OMIM:601386 deafness, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0011068 skos:exactMatch OMIM:601388 type 1 diabetes mellitus 12 semapv:UnspecifiedMatching MONDO:0011069 skos:exactMatch OMIM:601389 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction semapv:UnspecifiedMatching @@ -3973,7 +3973,7 @@ MONDO:0011081 skos:exactMatch OMIM:601450 dislocation of hip, congenital, with MONDO:0011082 skos:exactMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0011083 skos:exactMatch OMIM:601453 trichodental dysplasia semapv:UnspecifiedMatching MONDO:0011084 skos:exactMatch OMIM:601454 psoriasis 3, susceptibility to semapv:UnspecifiedMatching -MONDO:0011085 skos:exactMatch OMIM:601455 charcot-marie-tooth disease, type 4d semapv:UnspecifiedMatching +MONDO:0011085 skos:exactMatch OMIM:601455 charcot-marie-tooth disease, demyelinating, type 4d semapv:UnspecifiedMatching MONDO:0011086 skos:exactMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:UnspecifiedMatching MONDO:0011087 skos:exactMatch OMIM:601458 inflammatory bowel disease 2 semapv:UnspecifiedMatching MONDO:0011088 skos:exactMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:UnspecifiedMatching @@ -3999,7 +3999,7 @@ MONDO:0011109 skos:exactMatch OMIM:601560 multiple epiphyseal dysplasia with ro MONDO:0011110 skos:exactMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:UnspecifiedMatching MONDO:0011111 skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO:0011112 skos:exactMatch OMIM:601583 wilms tumor 5 semapv:UnspecifiedMatching -MONDO:0011113 skos:exactMatch OMIM:601596 charcot-marie-tooth disease, type 4c semapv:UnspecifiedMatching +MONDO:0011113 skos:exactMatch OMIM:601596 charcot-marie-tooth disease, demyelinating, type 4c semapv:UnspecifiedMatching MONDO:0011115 skos:exactMatch OMIM:601608 spastic paraplegia and evans syndrome semapv:UnspecifiedMatching MONDO:0011116 skos:exactMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:UnspecifiedMatching MONDO:0011117 skos:exactMatch OMIM:601616 iris pigment epithelium anomalies semapv:UnspecifiedMatching @@ -4334,7 +4334,7 @@ MONDO:0011471 skos:exactMatch OMIM:604519 inflammatory bowel disease 3 semapv:U MONDO:0011472 skos:exactMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:UnspecifiedMatching MONDO:0011473 skos:exactMatch OMIM:604537 leber congenital amaurosis 5 semapv:UnspecifiedMatching MONDO:0011474 skos:exactMatch OMIM:604559 progressive familial heart block, type 1b semapv:UnspecifiedMatching -MONDO:0011475 skos:exactMatch OMIM:604563 charcot-marie-tooth disease, type 4b2 semapv:UnspecifiedMatching +MONDO:0011475 skos:exactMatch OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 semapv:UnspecifiedMatching MONDO:0011476 skos:exactMatch omim.ps:604571 MHC class I deficiency semapv:UnspecifiedMatching MONDO:0011477 skos:exactMatch OMIM:604625 tooth agenesis, selective, 3 semapv:UnspecifiedMatching MONDO:0011478 skos:exactMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:UnspecifiedMatching @@ -5065,7 +5065,7 @@ MONDO:0012245 skos:exactMatch OMIM:609304 developmental and epileptic encephalo MONDO:0012246 skos:exactMatch OMIM:609306 spinocerebellar ataxia 26 semapv:UnspecifiedMatching MONDO:0012248 skos:exactMatch OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 semapv:UnspecifiedMatching MONDO:0012249 skos:exactMatch OMIM:609310 lynch syndrome 2 semapv:UnspecifiedMatching -MONDO:0012250 skos:exactMatch OMIM:609311 charcot-marie-tooth disease, type 4h semapv:UnspecifiedMatching +MONDO:0012250 skos:exactMatch OMIM:609311 charcot-marie-tooth disease, demyelinating, type 4h semapv:UnspecifiedMatching MONDO:0012251 skos:exactMatch OMIM:609313 mednik syndrome semapv:UnspecifiedMatching MONDO:0012252 skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO:0012253 skos:exactMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:UnspecifiedMatching @@ -5445,7 +5445,7 @@ MONDO:0012636 skos:exactMatch OMIM:611185 restless legs syndrome, susceptibilit MONDO:0012637 skos:exactMatch OMIM:611209 congenital disorder of glycosylation, type iig semapv:UnspecifiedMatching MONDO:0012638 skos:exactMatch OMIM:611222 microphthalmia, syndromic 10 semapv:UnspecifiedMatching MONDO:0012639 skos:exactMatch OMIM:611225 spastic paraplegia 18b, autosomal recessive semapv:UnspecifiedMatching -MONDO:0012640 skos:exactMatch OMIM:611228 charcot-marie-tooth disease, type 4j semapv:UnspecifiedMatching +MONDO:0012640 skos:exactMatch OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j semapv:UnspecifiedMatching MONDO:0012641 skos:exactMatch OMIM:611242 restless legs syndrome, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012642 skos:exactMatch OMIM:611247 major affective disorder 4 semapv:UnspecifiedMatching MONDO:0012643 skos:exactMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:UnspecifiedMatching @@ -6881,7 +6881,7 @@ MONDO:0014113 skos:exactMatch OMIM:615279 cardiofaciocutaneous syndrome 3 semap MONDO:0014114 skos:exactMatch OMIM:615280 cardiofaciocutaneous syndrome 4 semapv:UnspecifiedMatching MONDO:0014115 skos:exactMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:UnspecifiedMatching MONDO:0014116 skos:exactMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:UnspecifiedMatching -MONDO:0014117 skos:exactMatch OMIM:615284 charcot-marie-tooth disease, type 4b3 semapv:UnspecifiedMatching +MONDO:0014117 skos:exactMatch OMIM:615284 charcot-marie-tooth disease, demyelinating, type 4b3 semapv:UnspecifiedMatching MONDO:0014118 skos:exactMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:UnspecifiedMatching MONDO:0014119 skos:exactMatch OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:UnspecifiedMatching MONDO:0014120 skos:exactMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 semapv:UnspecifiedMatching @@ -7485,7 +7485,7 @@ MONDO:0014729 skos:exactMatch OMIM:616680 spastic paraplegia 75, autosomal rece MONDO:0014730 skos:exactMatch OMIM:616681 microcephaly 16, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014731 skos:exactMatch OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome semapv:UnspecifiedMatching MONDO:0014732 skos:exactMatch OMIM:616683 leukodystrophy, hypomyelinating, 12 semapv:UnspecifiedMatching -MONDO:0014733 skos:exactMatch OMIM:616684 charcot-marie-tooth disease, type 4k semapv:UnspecifiedMatching +MONDO:0014733 skos:exactMatch OMIM:616684 charcot-marie-tooth disease, demyelinating, type 4k semapv:UnspecifiedMatching MONDO:0014734 skos:exactMatch OMIM:616685 epilepsy, idiopathic generalized, susceptibility to, 14 semapv:UnspecifiedMatching MONDO:0014735 skos:exactMatch OMIM:616687 charcot-marie-tooth disease, axonal, type 2y semapv:UnspecifiedMatching MONDO:0014736 skos:exactMatch OMIM:616688 charcot-marie-tooth disease, axonal, type 2z semapv:UnspecifiedMatching @@ -10833,9 +10833,9 @@ OMIM:104510 amelogenesis imperfecta, type 4 skos:exactMatch MONDO:0007093 semap OMIM:104530 amelogenesis imperfecta, type 1a skos:exactMatch MONDO:0007094 semapv:UnspecifiedMatching OMIM:104570 ameloonychohypohidrotic syndrome skos:exactMatch MONDO:0007095 semapv:UnspecifiedMatching OMIM:104600 amenorrhea-galactorrhea syndrome skos:exactMatch MONDO:0007096 semapv:UnspecifiedMatching -OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:80 semapv:UnspecifiedMatching -OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:AOC1 semapv:UnspecifiedMatching -OMIM:104610 ABP1 skos:exactMatch ncbigene:26 semapv:UnspecifiedMatching +OMIM:104610 AOC1 skos:exactMatch hgnc.symbol:80 semapv:UnspecifiedMatching +OMIM:104610 AOC1 skos:exactMatch hgnc.symbol:AOC1 semapv:UnspecifiedMatching +OMIM:104610 AOC1 skos:exactMatch ncbigene:26 semapv:UnspecifiedMatching OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:1620 semapv:UnspecifiedMatching OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:CCT6A semapv:UnspecifiedMatching OMIM:104613 CCT6A skos:exactMatch ncbigene:908 semapv:UnspecifiedMatching @@ -21466,9 +21466,9 @@ OMIM:214290 cervical vertebrae, agenesis of skos:exactMatch MONDO:0008957 semap OMIM:214300 klippel-feil syndrome 2, autosomal recessive skos:exactMatch MONDO:0008958 semapv:UnspecifiedMatching OMIM:214350 chand syndrome skos:exactMatch MONDO:0008959 semapv:UnspecifiedMatching OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers skos:exactMatch MONDO:0008960 semapv:UnspecifiedMatching -OMIM:214400 charcot-marie-tooth disease, type 4a skos:exactMatch MONDO:0008961 semapv:UnspecifiedMatching -OMIM:214400 charcot-marie-tooth disease, type 4a skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching -OMIM:214400 charcot-marie-tooth disease, type 4a skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, demyelinating, type 4a skos:exactMatch MONDO:0008961 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, demyelinating, type 4a skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, demyelinating, type 4a skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching OMIM:214450 griscelli syndrome, type 1 skos:exactMatch MONDO:0008962 semapv:UnspecifiedMatching OMIM:214500 chediak-higashi syndrome skos:exactMatch MONDO:0008963 semapv:UnspecifiedMatching OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch MONDO:0008964 semapv:UnspecifiedMatching @@ -25641,6 +25641,7 @@ OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exa OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching OMIM:300869 chromosome xq27.3-q28 duplication syndrome skos:exactMatch MONDO:0010467 semapv:UnspecifiedMatching OMIM:300870 aneurysm, intracranial berry, 5 skos:exactMatch MONDO:0010468 semapv:UnspecifiedMatching +OMIM:300870 aneurysm, intracranial berry, 5 skos:exactMatch hgnc.symbol:ANIB5 semapv:UnspecifiedMatching OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:28746 semapv:UnspecifiedMatching OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:FUNDC1 semapv:UnspecifiedMatching OMIM:300871 FUNDC1 skos:exactMatch ncbigene:139341 semapv:UnspecifiedMatching @@ -26210,6 +26211,9 @@ OMIM:301123 TEX13C skos:exactMatch ncbigene:100129520 semapv:UnspecifiedMatchin OMIM:301124 TEX13D skos:exactMatch hgnc.symbol:52278 semapv:UnspecifiedMatching OMIM:301124 TEX13D skos:exactMatch hgnc.symbol:TEX13D semapv:UnspecifiedMatching OMIM:301124 TEX13D skos:exactMatch ncbigene:100132015 semapv:UnspecifiedMatching +OMIM:301125 ZCCHC13 skos:exactMatch hgnc.symbol:31749 semapv:UnspecifiedMatching +OMIM:301125 ZCCHC13 skos:exactMatch hgnc.symbol:ZCCHC13 semapv:UnspecifiedMatching +OMIM:301125 ZCCHC13 skos:exactMatch ncbigene:389874 semapv:UnspecifiedMatching OMIM:301200 amelogenesis imperfecta, type 1e skos:exactMatch MONDO:0010521 semapv:UnspecifiedMatching OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 skos:exactMatch MONDO:0010522 semapv:UnspecifiedMatching OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 skos:exactMatch hgnc.symbol:AIH3 semapv:UnspecifiedMatching @@ -30765,7 +30769,7 @@ OMIM:601380 EFNA4 skos:exactMatch ncbigene:1945 semapv:UnspecifiedMatching OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:3223 semapv:UnspecifiedMatching OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:EFNA3 semapv:UnspecifiedMatching OMIM:601381 EFNA3 skos:exactMatch ncbigene:1944 semapv:UnspecifiedMatching -OMIM:601382 charcot-marie-tooth disease, type 4b1 skos:exactMatch MONDO:0011066 semapv:UnspecifiedMatching +OMIM:601382 charcot-marie-tooth disease, demyelinating, type 4b1 skos:exactMatch MONDO:0011066 semapv:UnspecifiedMatching OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:639 semapv:UnspecifiedMatching OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:AQP6 semapv:UnspecifiedMatching OMIM:601383 AQP6 skos:exactMatch ncbigene:363 semapv:UnspecifiedMatching @@ -30963,7 +30967,7 @@ OMIM:601452 oculoauriculofrontonasal syndrome skos:exactMatch MONDO:0011082 sem OMIM:601453 trichodental dysplasia skos:exactMatch MONDO:0011083 semapv:UnspecifiedMatching OMIM:601454 psoriasis 3, susceptibility to skos:exactMatch MONDO:0011084 semapv:UnspecifiedMatching OMIM:601454 psoriasis 3, susceptibility to skos:exactMatch hgnc.symbol:PSORS3 semapv:UnspecifiedMatching -OMIM:601455 charcot-marie-tooth disease, type 4d skos:exactMatch MONDO:0011085 semapv:UnspecifiedMatching +OMIM:601455 charcot-marie-tooth disease, demyelinating, type 4d skos:exactMatch MONDO:0011085 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:7178 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:MMRN1 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch ncbigene:22915 semapv:UnspecifiedMatching @@ -31377,9 +31381,9 @@ OMIM:601595 SMAD1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:6767 semapv:UnspecifiedMatching OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:SMAD1 semapv:UnspecifiedMatching OMIM:601595 SMAD1 skos:exactMatch ncbigene:4086 semapv:UnspecifiedMatching -OMIM:601596 charcot-marie-tooth disease, type 4c skos:exactMatch MONDO:0011113 semapv:UnspecifiedMatching -OMIM:601596 charcot-marie-tooth disease, type 4c skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching -OMIM:601596 charcot-marie-tooth disease, type 4c skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, demyelinating, type 4c skos:exactMatch MONDO:0011113 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, demyelinating, type 4c skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, demyelinating, type 4c skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch UMLS:C1366526 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:1131 semapv:UnspecifiedMatching @@ -39863,9 +39867,9 @@ OMIM:604561 MGAT4B skos:exactMatch ncbigene:11282 semapv:UnspecifiedMatching OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:17066 semapv:UnspecifiedMatching OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:ACIN1 semapv:UnspecifiedMatching OMIM:604562 ACIN1 skos:exactMatch ncbigene:22985 semapv:UnspecifiedMatching -OMIM:604563 charcot-marie-tooth disease, type 4b2 skos:exactMatch MONDO:0011475 semapv:UnspecifiedMatching -OMIM:604563 charcot-marie-tooth disease, type 4b2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching -OMIM:604563 charcot-marie-tooth disease, type 4b2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 skos:exactMatch MONDO:0011475 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:7064 semapv:UnspecifiedMatching OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:MGST3 semapv:UnspecifiedMatching OMIM:604564 MGST3 skos:exactMatch ncbigene:4259 semapv:UnspecifiedMatching @@ -53610,7 +53614,7 @@ OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:7325 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:MSH2 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch ncbigene:4436 semapv:UnspecifiedMatching OMIM:609310 lynch syndrome 2 skos:exactMatch MONDO:0012249 semapv:UnspecifiedMatching -OMIM:609311 charcot-marie-tooth disease, type 4h skos:exactMatch MONDO:0012250 semapv:UnspecifiedMatching +OMIM:609311 charcot-marie-tooth disease, demyelinating, type 4h skos:exactMatch MONDO:0012250 semapv:UnspecifiedMatching OMIM:609312 DBH skos:exactMatch hgnc.symbol:2689 semapv:UnspecifiedMatching OMIM:609312 DBH skos:exactMatch hgnc.symbol:DBH semapv:UnspecifiedMatching OMIM:609312 DBH skos:exactMatch ncbigene:1621 semapv:UnspecifiedMatching @@ -58951,7 +58955,7 @@ OMIM:611226 ARMC3 skos:exactMatch ncbigene:219681 semapv:UnspecifiedMatching OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:28240 semapv:UnspecifiedMatching OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:HVCN1 semapv:UnspecifiedMatching OMIM:611227 HVCN1 skos:exactMatch ncbigene:84329 semapv:UnspecifiedMatching -OMIM:611228 charcot-marie-tooth disease, type 4j skos:exactMatch MONDO:0012640 semapv:UnspecifiedMatching +OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j skos:exactMatch MONDO:0012640 semapv:UnspecifiedMatching OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:25222 semapv:UnspecifiedMatching OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:ERLEC1 semapv:UnspecifiedMatching OMIM:611229 ERLEC1 skos:exactMatch ncbigene:27248 semapv:UnspecifiedMatching @@ -68855,7 +68859,7 @@ OMIM:615283 EXOC8 skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:24659 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:EXOC8 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch ncbigene:149371 semapv:UnspecifiedMatching -OMIM:615284 charcot-marie-tooth disease, type 4b3 skos:exactMatch MONDO:0014117 semapv:UnspecifiedMatching +OMIM:615284 charcot-marie-tooth disease, demyelinating, type 4b3 skos:exactMatch MONDO:0014117 semapv:UnspecifiedMatching OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive skos:exactMatch MONDO:0014118 semapv:UnspecifiedMatching OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch MONDO:0014119 semapv:UnspecifiedMatching OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch Orphanet:363528 semapv:UnspecifiedMatching @@ -69725,9 +69729,9 @@ OMIM:615664 TESPA1 skos:exactMatch ncbigene:9840 semapv:UnspecifiedMatching OMIM:615665 joubert syndrome 22 skos:exactMatch MONDO:0014297 semapv:UnspecifiedMatching OMIM:615665 joubert syndrome 22 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching OMIM:615665 joubert syndrome 22 skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching -OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:26725 semapv:UnspecifiedMatching -OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:TRMT9B semapv:UnspecifiedMatching -OMIM:615666 KIAA1456 skos:exactMatch ncbigene:57604 semapv:UnspecifiedMatching +OMIM:615666 TRMT9B skos:exactMatch hgnc.symbol:26725 semapv:UnspecifiedMatching +OMIM:615666 TRMT9B skos:exactMatch hgnc.symbol:TRMT9B semapv:UnspecifiedMatching +OMIM:615666 TRMT9B skos:exactMatch ncbigene:57604 semapv:UnspecifiedMatching OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:26922 semapv:UnspecifiedMatching OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:ERCC6L2 semapv:UnspecifiedMatching OMIM:615667 ERCC6L2 skos:exactMatch ncbigene:375748 semapv:UnspecifiedMatching @@ -72152,7 +72156,7 @@ OMIM:616680 spastic paraplegia 75, autosomal recessive skos:exactMatch MONDO:001 OMIM:616681 microcephaly 16, primary, autosomal recessive skos:exactMatch MONDO:0014730 semapv:UnspecifiedMatching OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome skos:exactMatch MONDO:0014731 semapv:UnspecifiedMatching OMIM:616683 leukodystrophy, hypomyelinating, 12 skos:exactMatch MONDO:0014732 semapv:UnspecifiedMatching -OMIM:616684 charcot-marie-tooth disease, type 4k skos:exactMatch MONDO:0014733 semapv:UnspecifiedMatching +OMIM:616684 charcot-marie-tooth disease, demyelinating, type 4k skos:exactMatch MONDO:0014733 semapv:UnspecifiedMatching OMIM:616685 epilepsy, idiopathic generalized, susceptibility to, 14 skos:exactMatch MONDO:0014734 semapv:UnspecifiedMatching OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:16918 semapv:UnspecifiedMatching OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:SYNCRIP semapv:UnspecifiedMatching @@ -81736,6 +81740,26 @@ OMIM:620935 TEX9 skos:exactMatch ncbigene:374618 semapv:UnspecifiedMatching OMIM:620936 WDR27 skos:exactMatch hgnc.symbol:21248 semapv:UnspecifiedMatching OMIM:620936 WDR27 skos:exactMatch hgnc.symbol:WDR27 semapv:UnspecifiedMatching OMIM:620936 WDR27 skos:exactMatch ncbigene:253769 semapv:UnspecifiedMatching +OMIM:620941 SYNPO2 skos:exactMatch hgnc.symbol:17732 semapv:UnspecifiedMatching +OMIM:620941 SYNPO2 skos:exactMatch hgnc.symbol:SYNPO2 semapv:UnspecifiedMatching +OMIM:620941 SYNPO2 skos:exactMatch ncbigene:171024 semapv:UnspecifiedMatching +OMIM:620944 ARRDC5 skos:exactMatch hgnc.symbol:31407 semapv:UnspecifiedMatching +OMIM:620944 ARRDC5 skos:exactMatch hgnc.symbol:ARRDC5 semapv:UnspecifiedMatching +OMIM:620944 ARRDC5 skos:exactMatch ncbigene:645432 semapv:UnspecifiedMatching +OMIM:620945 CIMIP4 skos:exactMatch hgnc.symbol:CIMIP4 semapv:UnspecifiedMatching +OMIM:620945 CIMIP4 skos:exactMatch ncbigene:339669 semapv:UnspecifiedMatching +OMIM:620946 USP42 skos:exactMatch hgnc.symbol:20068 semapv:UnspecifiedMatching +OMIM:620946 USP42 skos:exactMatch hgnc.symbol:USP42 semapv:UnspecifiedMatching +OMIM:620946 USP42 skos:exactMatch ncbigene:84132 semapv:UnspecifiedMatching +OMIM:620948 UTP6 skos:exactMatch hgnc.symbol:18279 semapv:UnspecifiedMatching +OMIM:620948 UTP6 skos:exactMatch hgnc.symbol:UTP6 semapv:UnspecifiedMatching +OMIM:620948 UTP6 skos:exactMatch ncbigene:55813 semapv:UnspecifiedMatching +OMIM:620949 TOGARAM2 skos:exactMatch hgnc.symbol:33715 semapv:UnspecifiedMatching +OMIM:620949 TOGARAM2 skos:exactMatch hgnc.symbol:TOGARAM2 semapv:UnspecifiedMatching +OMIM:620949 TOGARAM2 skos:exactMatch ncbigene:165186 semapv:UnspecifiedMatching +OMIM:620951 WDR31 skos:exactMatch hgnc.symbol:21421 semapv:UnspecifiedMatching +OMIM:620951 WDR31 skos:exactMatch hgnc.symbol:WDR31 semapv:UnspecifiedMatching +OMIM:620951 WDR31 skos:exactMatch ncbigene:114987 semapv:UnspecifiedMatching omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching diff --git a/src/ontology/config/mondo-excluded-values.yml b/src/ontology/config/mondo-excluded-values.yml new file mode 100644 index 00000000..adf44d36 --- /dev/null +++ b/src/ontology/config/mondo-excluded-values.yml @@ -0,0 +1,2402 @@ +exclusions: + synonyms: + - id: "MONDO:0008471" + scope: "oio:hasExactSynonym" + value: "late spondyloepiphyseal dysplasia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001809" + scope: "oio:hasRelatedSynonym" + value: "intrauterine adhesions" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016688" + scope: "oio:hasRelatedSynonym" + value: "diffuse astrocytoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006490" + scope: "oio:hasRelatedSynonym" + value: "vaginal squamous cell carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008471" + scope: "oio:hasExactSynonym" + value: "spondyloepiphyseal dysplasia tarda, X-linked; SEDT" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002236" + scope: "oio:hasRelatedSynonym" + value: "malignant eye cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007667" + scope: "oio:hasRelatedSynonym" + value: "subependymal astrocytoma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006639" + scope: "oio:hasBroadSynonym" + value: "neoplasm of adrenal cortex" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007286" + scope: "oio:hasRelatedSynonym" + value: "dusty cataract" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002457" + scope: "oio:hasRelatedSynonym" + value: "mandibulofacial dysostosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006490" + scope: "oio:hasRelatedSynonym" + value: "vaginal squamous cell carcinoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001553" + scope: "oio:hasRelatedSynonym" + value: "endophthalmitis phacoanaphylactica" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006424" + scope: "oio:hasRelatedSynonym" + value: "soft tissue neoplasm, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009934" + scope: "oio:hasRelatedSynonym" + value: "persistent fetal circulation syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015540" + scope: "oio:hasRelatedSynonym" + value: "HPS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001187" + scope: "oio:hasRelatedSynonym" + value: "bladder cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002178" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of placenta" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005753" + scope: "oio:hasRelatedSynonym" + value: "acute epiglottitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002367" + scope: "oio:hasRelatedSynonym" + value: "renal cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003430" + scope: "oio:hasRelatedSynonym" + value: "prolactin-producing pituitary gland carcinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005631" + scope: "oio:hasRelatedSynonym" + value: "actinomycotic infection" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005212" + scope: "oio:hasRelatedSynonym" + value: "rhabdomyosarcoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006602" + scope: "oio:hasRelatedSynonym" + value: "disseminated superficial actinic porokeratosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018841" + scope: "oio:hasRelatedSynonym" + value: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001198" + scope: "oio:hasRelatedSynonym" + value: "secondary thrombocytopenia NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005590" + scope: "oio:hasRelatedSynonym" + value: "duct carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007037" + scope: "oio:hasExactSynonym" + value: "osteosclerosis congenita" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002108" + scope: "oio:hasBroadSynonym" + value: "thyroid neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006891" + scope: "oio:hasRelatedSynonym" + value: "epilepsy, focal motor NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006427" + scope: "oio:hasRelatedSynonym" + value: "spindle cell melanoma NOS (morphologic abnormality)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006891" + scope: "oio:hasRelatedSynonym" + value: "focal motor seizure, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007098" + scope: "oio:hasRelatedSynonym" + value: "HCHWA" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006290" + scope: "oio:hasRelatedSynonym" + value: "germ cell cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasBroadSynonym" + value: "basal cell neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016642" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of the meninges" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasBroadSynonym" + value: "basal cell neoplasm NOS (morphologic abnormality)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019796" + scope: "oio:hasRelatedSynonym" + value: "apert syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasBroadSynonym" + value: "basal cell neoplasm (morphologic abnormality)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010434" + scope: "oio:hasRelatedSynonym" + value: "synovial sarcoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003780" + scope: "oio:hasRelatedSynonym" + value: "T-lymphocyte deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasBroadSynonym" + value: "basal cell tumor (morphologic abnormality)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005017" + scope: "oio:hasRelatedSynonym" + value: "diffuse type adenocarcinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006107" + scope: "oio:hasRelatedSynonym" + value: "benign thyroid neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006995" + scope: "oio:hasRelatedSynonym" + value: "spinal dysraphism" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010434" + scope: "oio:hasRelatedSynonym" + value: "synovial sarcoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002118" + scope: "oio:hasRelatedSynonym" + value: "renal disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011587" + scope: "oio:hasRelatedSynonym" + value: "early-onset cataract with Y-shaped suture opacities" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005017" + scope: "oio:hasRelatedSynonym" + value: "diffuse type carcinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005211" + scope: "oio:hasRelatedSynonym" + value: "malignant ovarian serous tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016642" + scope: "oio:hasRelatedSynonym" + value: "meningioma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003249" + scope: "oio:hasBroadSynonym" + value: "pineal body neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001041" + scope: "oio:hasRelatedSynonym" + value: "dentin caries, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009050" + scope: "oio:hasRelatedSynonym" + value: "ACTH-producing pituitary adenoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002278" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of colon" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003249" + scope: "oio:hasBroadSynonym" + value: "neoplasm of pineal gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007805" + scope: "oio:hasRelatedSynonym" + value: "Htss1" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006874" + scope: "oio:hasRelatedSynonym" + value: "obstructive jaundice NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005059" + scope: "oio:hasRelatedSynonym" + value: "leukemia, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005059" + scope: "oio:hasRelatedSynonym" + value: "leukemia NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019040" + scope: "oio:hasRelatedSynonym" + value: "chromosomal anomaly" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004854" + scope: "oio:hasRelatedSynonym" + value: "gonococcal conjunctivitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019004" + scope: "oio:hasNarrowSynonym" + value: "adult renal Wilms' tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017851" + scope: "oio:hasRelatedSynonym" + value: "Greither's disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017851" + scope: "oio:hasRelatedSynonym" + value: "Greither disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006543" + scope: "oio:hasRelatedSynonym" + value: "dystrophic epidermolysis bullosa" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002447" + scope: "oio:hasRelatedSynonym" + value: "endometrioid carcinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002681" + scope: "oio:hasBroadSynonym" + value: "tumor of the choroid plexus" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0024331" + scope: "oio:hasBroadSynonym" + value: "colorectal cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002406" + scope: "oio:hasRelatedSynonym" + value: "eczema" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002089" + scope: "oio:hasRelatedSynonym" + value: "retinal vasc. occlusion" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002898" + scope: "oio:hasRelatedSynonym" + value: "skin cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002447" + scope: "oio:hasRelatedSynonym" + value: "endometrioid carcinoma of female reproductive system" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003443" + scope: "oio:hasRelatedSynonym" + value: "urinary tract inverted papilloma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001660" + scope: "oio:hasRelatedSynonym" + value: "PDR" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021129" + scope: "oio:hasNarrowSynonym" + value: "nanophthalmia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasBroadSynonym" + value: "malignant basal cell tumor (morphologic abnormality)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021386" + scope: "oio:hasRelatedSynonym" + value: "mediastinal neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018270" + scope: "oio:hasRelatedSynonym" + value: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002095" + scope: "oio:hasRelatedSynonym" + value: "malignant great vessel tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002129" + scope: "oio:hasBroadSynonym" + value: "neoplasm of bone" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007033" + scope: "oio:hasRelatedSynonym" + value: "abducens nerve disorder" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004460" + scope: "oio:hasRelatedSynonym" + value: "fetal adenoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019609" + scope: "oio:hasRelatedSynonym" + value: "peroxisome biogenesis disorder" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001309" + scope: "oio:hasRelatedSynonym" + value: "third cranial nerve paralysis, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasBroadSynonym" + value: "malignant basal cell tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018309" + scope: "oio:hasNarrowSynonym" + value: "total intestinal aganglionosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasBroadSynonym" + value: "malignant basal cell neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001586" + scope: "oio:hasRelatedSynonym" + value: "Hurler-Scheie syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002277" + scope: "oio:hasRelatedSynonym" + value: "arteriosclerosis NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008380" + scope: "oio:hasRelatedSynonym" + value: "neuroblastoma of retina" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002277" + scope: "oio:hasRelatedSynonym" + value: "arteriosclerotic vascular disease NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016700" + scope: "oio:hasRelatedSynonym" + value: "ependymal neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003403" + scope: "oio:hasRelatedSynonym" + value: "testicular nonseminomatous germ cell tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002277" + scope: "oio:hasRelatedSynonym" + value: "arteriosclerotic cardiovascular disease, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009807" + scope: "oio:hasRelatedSynonym" + value: "skeletal sarcoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005630" + scope: "oio:hasRelatedSynonym" + value: "actinobacillosis, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009693" + scope: "oio:hasRelatedSynonym" + value: "myeloma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006403" + scope: "oio:hasRelatedSynonym" + value: "carcinoma in pleomorphic adenoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006403" + scope: "oio:hasRelatedSynonym" + value: "carcinoma ex pleomorphic adenoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0020088" + scope: "oio:hasRelatedSynonym" + value: "Dunnigan syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018089" + scope: "oio:hasRelatedSynonym" + value: "double outlet right ventricle with subpulmonary ventricular septal defect" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018089" + scope: "oio:hasRelatedSynonym" + value: "Taussig-Bing syndrome or defect" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002655" + scope: "oio:hasRelatedSynonym" + value: "Paget's disease of skin" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005519" + scope: "oio:hasBroadSynonym" + value: "malignant tumor of renal pelvis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002912" + scope: "oio:hasBroadSynonym" + value: "tumor of adult brainstem" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002974" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of uterine cervix" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003403" + scope: "oio:hasRelatedSynonym" + value: "testicular nonseminomat. GCT, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007033" + scope: "oio:hasRelatedSynonym" + value: "sixth cranial nerve disorder, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018994" + scope: "oio:hasRelatedSynonym" + value: "Cowchock syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012866" + scope: "oio:hasRelatedSynonym" + value: "fatty acid hydroxylase-associated neurodegeneration" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012866" + scope: "oio:hasRelatedSynonym" + value: "FAHN" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015871" + scope: "oio:hasRelatedSynonym" + value: "phyllodes tumor, benign" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004970" + scope: "oio:hasRelatedSynonym" + value: "adenocarcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004964" + scope: "oio:hasRelatedSynonym" + value: "peripheral T-cell lymphoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018408" + scope: "oio:hasRelatedSynonym" + value: "echinococcus granulosus infectious disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006325" + scope: "oio:hasRelatedSynonym" + value: "intraocular melanoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015687" + scope: "oio:hasRelatedSynonym" + value: "chronic eosinophilic leukemia, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015687" + scope: "oio:hasRelatedSynonym" + value: "chronic eosinophilic leukemia, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001080" + scope: "oio:hasRelatedSynonym" + value: "gonococcal cervicitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002691" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of liver" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0100446" + scope: "oio:hasNarrowSynonym" + value: "Pingelapese blindness" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002464" + scope: "oio:hasBroadSynonym" + value: "neoplasm of lacrimal gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004209" + scope: "oio:hasRelatedSynonym" + value: "cerebral embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004209" + scope: "oio:hasRelatedSynonym" + value: "cerebral embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018096" + scope: "oio:hasRelatedSynonym" + value: "GEMSS syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002334" + scope: "oio:hasRelatedSynonym" + value: "malignant hematopoietic neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007818" + scope: "oio:hasBroadSynonym" + value: "hyperimmunoglobulin E syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0014054" + scope: "oio:hasRelatedSynonym" + value: "CD27 deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010121" + scope: "oio:hasRelatedSynonym" + value: "chromosome 1q21.1 deletion syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015285" + scope: "oio:hasRelatedSynonym" + value: "Carney complex variant" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008783" + scope: "oio:hasRelatedSynonym" + value: "familial hypoalphalipoproteinemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001658" + scope: "oio:hasRelatedSynonym" + value: "goiter, non-toxic NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009532" + scope: "oio:hasRelatedSynonym" + value: "MDS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002176" + scope: "oio:hasBroadSynonym" + value: "tumor of connective tissue" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004790" + scope: "oio:hasRelatedSynonym" + value: "alcoholic fatty liver" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006865" + scope: "oio:hasRelatedSynonym" + value: "Vincent's angina NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021061" + scope: "oio:hasNarrowSynonym" + value: "neurofibromatosis type 1" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010837" + scope: "oio:hasRelatedSynonym" + value: "familial benign hypercalcemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004041" + scope: "oio:hasRelatedSynonym" + value: "urinary bladder urothelial papilloma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007354" + scope: "oio:hasRelatedSynonym" + value: "coloboma of optic disk" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010837" + scope: "oio:hasRelatedSynonym" + value: "familial primary hyperparathyroidism" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008412" + scope: "oio:hasRelatedSynonym" + value: "Schistosoma japonicum infection" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008412" + scope: "oio:hasRelatedSynonym" + value: "Schistosoma mansoni infectious disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004665" + scope: "oio:hasRelatedSynonym" + value: "Hodgkin's disease nodular sclerosis NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003275" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of middle ear" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015273" + scope: "oio:hasRelatedSynonym" + value: "common atrioventricular canal" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018106" + scope: "oio:hasRelatedSynonym" + value: "xanthine oxidase deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001879" + scope: "oio:hasRelatedSynonym" + value: "anal cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011830" + scope: "oio:hasRelatedSynonym" + value: "lissencephaly type 1" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004380" + scope: "oio:hasRelatedSynonym" + value: "dendritic cell sarcoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001650" + scope: "oio:hasRelatedSynonym" + value: "urinary tract infection" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000397" + scope: "oio:hasRelatedSynonym" + value: "hypotonic cerebral palsy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004380" + scope: "oio:hasRelatedSynonym" + value: "dendritic cell sarcoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001952" + scope: "oio:hasRelatedSynonym" + value: "tumor of parietal lobe" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001777" + scope: "oio:hasRelatedSynonym" + value: "gonococcal cystitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002363" + scope: "oio:hasRelatedSynonym" + value: "papillomatosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002363" + scope: "oio:hasRelatedSynonym" + value: "papillomatosis, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007240" + scope: "oio:hasRelatedSynonym" + value: "bundle branch block" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005761" + scope: "oio:hasRelatedSynonym" + value: "lymphatic filariasis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018177" + scope: "oio:hasRelatedSynonym" + value: "adult glioblastoma multiforme" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008944" + scope: "oio:hasRelatedSynonym" + value: "cerebelloparenchymal disorder IV" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012455" + scope: "oio:hasRelatedSynonym" + value: "9q subtelomeric deletion syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005304" + scope: "oio:hasRelatedSynonym" + value: "tumor of the extrahepatic bile duct" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005304" + scope: "oio:hasRelatedSynonym" + value: "extrahepatic bile duct neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005062" + scope: "oio:hasRelatedSynonym" + value: "lymphoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012481" + scope: "oio:hasRelatedSynonym" + value: "mevalonate kinase deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002572" + scope: "oio:hasRelatedSynonym" + value: "Mendelson's syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018995" + scope: "oio:hasRelatedSynonym" + value: "hereditary motor and sensory neuropathy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002489" + scope: "oio:hasRelatedSynonym" + value: "malignant phyllodes tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001398" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of ureter" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002489" + scope: "oio:hasRelatedSynonym" + value: "phyllodes tumor, malignant" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001398" + scope: "oio:hasRelatedSynonym" + value: "benign ureteric neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005233" + scope: "oio:hasRelatedSynonym" + value: "non-small cell lung cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005233" + scope: "oio:hasRelatedSynonym" + value: "non small cell lung cancer NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001676" + scope: "oio:hasRelatedSynonym" + value: "EPP" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010029" + scope: "oio:hasRelatedSynonym" + value: "complete transposition" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004952" + scope: "oio:hasRelatedSynonym" + value: "Hodgkin lymphoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000920" + scope: "oio:hasBroadSynonym" + value: "duodenal neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005051" + scope: "oio:hasRelatedSynonym" + value: "lobular carcinoma of breast" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005106" + scope: "oio:hasRelatedSynonym" + value: "benign lipomatous tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002290" + scope: "oio:hasRelatedSynonym" + value: "clitoral cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015526" + scope: "oio:hasRelatedSynonym" + value: "Crisponi syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005170" + scope: "oio:hasRelatedSynonym" + value: "myeloma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0013048" + scope: "oio:hasRelatedSynonym" + value: "CPSQ3" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010936" + scope: "oio:hasRelatedSynonym" + value: "amyotrophic lateral sclerosis 17" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004691" + scope: "oio:hasRelatedSynonym" + value: "polycystic kidney and hepatic disease 1" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017346" + scope: "oio:hasRelatedSynonym" + value: "Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005106" + scope: "oio:hasRelatedSynonym" + value: "tumor of adipose tissue" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002969" + scope: "oio:hasBroadSynonym" + value: "neoplasm of ciliary body" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002268" + scope: "oio:hasRelatedSynonym" + value: "dyspepsia, indigestion NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010936" + scope: "oio:hasRelatedSynonym" + value: "amyotrophic lateral sclerosis type 17" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007893" + scope: "oio:hasRelatedSynonym" + value: "cardiocutaneous syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021470" + scope: "oio:hasRelatedSynonym" + value: "benign pancreatic neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001406" + scope: "oio:hasRelatedSynonym" + value: "CNS-excluded nervous system cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004001" + scope: "oio:hasRelatedSynonym" + value: "compartmental syndrome, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015871" + scope: "oio:hasRelatedSynonym" + value: "cystosarcoma phyllodes, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004620" + scope: "oio:hasRelatedSynonym" + value: "Hodgkin's disease, lymphocytic depletion NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006639" + scope: "oio:hasRelatedSynonym" + value: "adrenocortical carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0020321" + scope: "oio:hasRelatedSynonym" + value: "acute leukemia, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003514" + scope: "oio:hasRelatedSynonym" + value: "primary malignant extragonadal teratoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011076" + scope: "oio:hasRelatedSynonym" + value: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005034" + scope: "oio:hasNarrowSynonym" + value: "thyroid adenocarcinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0020321" + scope: "oio:hasRelatedSynonym" + value: "acute leukemia not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006335" + scope: "oio:hasRelatedSynonym" + value: "ovarian endometrioid adenocarcinoma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010362" + scope: "oio:hasRelatedSynonym" + value: "glycogen storage disease type IXe" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010362" + scope: "oio:hasRelatedSynonym" + value: "glycogenosis type IXe" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010362" + scope: "oio:hasRelatedSynonym" + value: "glycogenosis type 9E" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006335" + scope: "oio:hasRelatedSynonym" + value: "ovarian endometrioid adenocarcinoma not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021079" + scope: "oio:hasBroadSynonym" + value: "neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005086" + scope: "oio:hasRelatedSynonym" + value: "adenocarcinoma of kidney" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012817" + scope: "oio:hasRelatedSynonym" + value: "peripheral primitive neuroectodermal tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005029" + scope: "oio:hasRelatedSynonym" + value: "hereditary thrombocythemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005029" + scope: "oio:hasRelatedSynonym" + value: "familial thrombocytosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004669" + scope: "oio:hasNarrowSynonym" + value: "malignant tumor of the major salivary gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017435" + scope: "oio:hasRelatedSynonym" + value: "popliteal web syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000722" + scope: "oio:hasRelatedSynonym" + value: "syndactyly type 2" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010936" + scope: "oio:hasRelatedSynonym" + value: "ALS17" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010362" + scope: "oio:hasRelatedSynonym" + value: "glycogen storage disease type 9E" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005429" + scope: "oio:hasRelatedSynonym" + value: "transmissible spongiform encephalopathy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000241" + scope: "oio:hasRelatedSynonym" + value: "caused by deficiency of selenium in the diet" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003472" + scope: "oio:hasRelatedSynonym" + value: "pediculosis + lice NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016096" + scope: "oio:hasRelatedSynonym" + value: "ovarian nondysgerminomatous germ cell tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010362" + scope: "oio:hasRelatedSynonym" + value: "GSD type IXe" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017719" + scope: "oio:hasRelatedSynonym" + value: "mucolipidosis type IV" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010362" + scope: "oio:hasRelatedSynonym" + value: "GSD type 9E" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001226" + scope: "oio:hasRelatedSynonym" + value: "pink eye" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009576" + scope: "oio:hasRelatedSynonym" + value: "congenital anterior megalophthalmia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010298" + scope: "oio:hasBroadSynonym" + value: "hypoxanthine guanine phosphoribosyltransferase deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006143" + scope: "oio:hasRelatedSynonym" + value: "cervical squamous cell carcinoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003175" + scope: "oio:hasRelatedSynonym" + value: "cylindroma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010362" + scope: "oio:hasRelatedSynonym" + value: "X-linked muscke glycogenosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0013091" + scope: "oio:hasRelatedSynonym" + value: "glycogenosis type 9C" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011982" + scope: "oio:hasRelatedSynonym" + value: "thyroglobulin" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0013091" + scope: "oio:hasRelatedSynonym" + value: "glycogen storage disease type 9C" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011982" + scope: "oio:hasRelatedSynonym" + value: "TGN" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003175" + scope: "oio:hasRelatedSynonym" + value: "cylindroma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007307" + scope: "oio:hasRelatedSynonym" + value: "peroneal muscular atrophy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006536" + scope: "oio:hasRelatedSynonym" + value: "Beradinelli-Seip syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005550" + scope: "oio:hasRelatedSynonym" + value: "ID" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005300" + scope: "oio:hasRelatedSynonym" + value: "chronic kidney failure" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009760" + scope: "oio:hasRelatedSynonym" + value: "lissencephaly type 2" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003472" + scope: "oio:hasRelatedSynonym" + value: "lice infestation, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016096" + scope: "oio:hasRelatedSynonym" + value: "ovarian nondysgerm. GCT, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006533" + scope: "oio:hasRelatedSynonym" + value: "cholesteatoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0020804" + scope: "oio:hasRelatedSynonym" + value: "ulcer, rodent" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0020804" + scope: "oio:hasRelatedSynonym" + value: "rodent ulcer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021443" + scope: "oio:hasRelatedSynonym" + value: "benign lymph node neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005806" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of hypopharynx, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001115" + scope: "oio:hasRelatedSynonym" + value: "familial erythrocytosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005446" + scope: "oio:hasRelatedSynonym" + value: "diffuse cutaneous leishmaniasis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001115" + scope: "oio:hasRelatedSynonym" + value: "familiar polycythemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005806" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of hypopharynx NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001416" + scope: "oio:hasRelatedSynonym" + value: "female reprod. system cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008828" + scope: "oio:hasRelatedSynonym" + value: "CAP syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018381" + scope: "oio:hasRelatedSynonym" + value: "epiphyseal necrosis, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002731" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of cerebrum" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001416" + scope: "oio:hasRelatedSynonym" + value: "female reproductive system cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009211" + scope: "oio:hasRelatedSynonym" + value: "deficiency, stable" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005136" + scope: "oio:hasNarrowSynonym" + value: "induced malaria" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005027" + scope: "oio:hasNarrowSynonym" + value: "epilepsy syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012817" + scope: "oio:hasRelatedSynonym" + value: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005027" + scope: "oio:hasNarrowSynonym" + value: "epileptic syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001328" + scope: "oio:hasRelatedSynonym" + value: "Refetoff syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010298" + scope: "oio:hasBroadSynonym" + value: "hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007280" + scope: "oio:hasRelatedSynonym" + value: "CCV" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003464" + scope: "oio:hasRelatedSynonym" + value: "cystadenofibroma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005153" + scope: "oio:hasRelatedSynonym" + value: "cervical adenocarcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009330" + scope: "oio:hasRelatedSynonym" + value: "malignant hemangiopericytoma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005549" + scope: "oio:hasRelatedSynonym" + value: "renal cell carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004668" + scope: "oio:hasRelatedSynonym" + value: "liver flukes NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005153" + scope: "oio:hasRelatedSynonym" + value: "cervical adenocarcinoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003199" + scope: "oio:hasBroadSynonym" + value: "anal cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017346" + scope: "oio:hasRelatedSynonym" + value: "EBV-positive diffuse large B-cell lymphoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017346" + scope: "oio:hasRelatedSynonym" + value: "EBV-positive DLBCL, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005447" + scope: "oio:hasNarrowSynonym" + value: "childhood neoplasm of the testis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017346" + scope: "oio:hasRelatedSynonym" + value: "Epstein-Barr Virus Positive DLBCL, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018201" + scope: "oio:hasRelatedSynonym" + value: "extragonadal GCT, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001595" + scope: "oio:hasRelatedSynonym" + value: "chorea" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001530" + scope: "oio:hasRelatedSynonym" + value: "secondary hyperparathyroidism" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006522" + scope: "oio:hasRelatedSynonym" + value: "acquired keratoderma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005447" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of testis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018201" + scope: "oio:hasRelatedSynonym" + value: "extragonadal germ cell tumors, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006018" + scope: "oio:hasRelatedSynonym" + value: "Wissler-Fanconi syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005447" + scope: "oio:hasRelatedSynonym" + value: "pediatric testicular neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001657" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of brain" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004058" + scope: "oio:hasRelatedSynonym" + value: "Verner-Morrison syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018543" + scope: "oio:hasRelatedSynonym" + value: "HYPOC" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007030" + scope: "oio:hasRelatedSynonym" + value: "Greig's syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011076" + scope: "oio:hasRelatedSynonym" + value: "LGMD2R" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003175" + scope: "oio:hasBroadSynonym" + value: "adenoid cystic carcinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002913" + scope: "oio:hasRelatedSynonym" + value: "cerebellar cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0100354" + scope: "oio:hasRelatedSynonym" + value: "visceral myopathy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002726" + scope: "oio:hasRelatedSynonym" + value: "solitary mastocytoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001744" + scope: "oio:hasRelatedSynonym" + value: "closed angle glaucoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005206" + scope: "oio:hasBroadSynonym" + value: "kidney cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007361" + scope: "oio:hasRelatedSynonym" + value: "Quincke edema" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000766" + scope: "oio:hasRelatedSynonym" + value: "corneal epithelium corneal dystrophy (disease)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001541" + scope: "oio:hasRelatedSynonym" + value: "lesion of plantar nerve, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010193" + scope: "oio:hasRelatedSynonym" + value: "Weaver-Williams syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006686" + scope: "oio:hasRelatedSynonym" + value: "brainstem infarction NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006143" + scope: "oio:hasRelatedSynonym" + value: "cervical squamous cell carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018150" + scope: "oio:hasRelatedSynonym" + value: "lipoid histiocytosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002715" + scope: "oio:hasRelatedSynonym" + value: "uterine cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008223" + scope: "oio:hasRelatedSynonym" + value: "familial periodic paralysis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000359" + scope: "oio:hasRelatedSynonym" + value: "spondylothoracic dysostosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005046" + scope: "oio:hasRelatedSynonym" + value: "immune disorder, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001402" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of vagina" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008167" + scope: "oio:hasRelatedSynonym" + value: "dermoid cyst" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002714" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of central nervous system" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000359" + scope: "oio:hasRelatedSynonym" + value: "spondylothoracic dysplasia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002742" + scope: "oio:hasRelatedSynonym" + value: "cervical mucinous adenocarcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002318" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of trachea" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002742" + scope: "oio:hasRelatedSynonym" + value: "cervical mucinous adenocarcinoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005835" + scope: "oio:hasRelatedSynonym" + value: "coca 1" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008260" + scope: "oio:hasRelatedSynonym" + value: "hereditary acrokeratotic poikiloderma of Kindler-Weary" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003612" + scope: "oio:hasRelatedSynonym" + value: "tumor of the uterine ligament" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002959" + scope: "oio:hasRelatedSynonym" + value: "nerve root disorder, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018531" + scope: "oio:hasBroadSynonym" + value: "liver and hepatobiliary cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011786" + scope: "oio:hasRelatedSynonym" + value: "hay fever" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011897" + scope: "oio:hasRelatedSynonym" + value: "leukodystrophy with oligodontia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006295" + scope: "oio:hasRelatedSynonym" + value: "urothelial tract/bladder cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005843" + scope: "oio:hasRelatedSynonym" + value: "malignant mediastinal neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002536" + scope: "oio:hasRelatedSynonym" + value: "skin papilloma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005424" + scope: "oio:hasRelatedSynonym" + value: "elephantiasis NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005060" + scope: "oio:hasRelatedSynonym" + value: "liposarcoma not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019942" + scope: "oio:hasRelatedSynonym" + value: "arthrogryposis multiplex congenita" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006295" + scope: "oio:hasRelatedSynonym" + value: "urothelial/bladder cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019342" + scope: "oio:hasRelatedSynonym" + value: "microcephalic primordial dwarfism" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005516" + scope: "oio:hasRelatedSynonym" + value: "chondrodystrophy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011897" + scope: "oio:hasRelatedSynonym" + value: "tremor-ataxia-central hypomyelination syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019942" + scope: "oio:hasRelatedSynonym" + value: "freeman-Sheldon syndrome variant" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005843" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of mediastinum" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000640" + scope: "oio:hasRelatedSynonym" + value: "central nervous system embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019942" + scope: "oio:hasRelatedSynonym" + value: "freeman-Sheldon syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005028" + scope: "oio:hasRelatedSynonym" + value: "oesophageal adenocarcinoma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007002" + scope: "oio:hasRelatedSynonym" + value: "trochlear nerve disorder, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006515" + scope: "oio:hasRelatedSynonym" + value: "acute pancreatitis NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0042981" + scope: "oio:hasRelatedSynonym" + value: "congenital aortic valve stenosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011076" + scope: "oio:hasRelatedSynonym" + value: "muscular dystrophy, limb-girdle, type 2R" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000640" + scope: "oio:hasRelatedSynonym" + value: "CNS embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007450" + scope: "oio:hasRelatedSynonym" + value: "central diabetes insipidus" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0024305" + scope: "oio:hasRelatedSynonym" + value: "hyperprolactinaemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002218" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of temporal lobe" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000640" + scope: "oio:hasRelatedSynonym" + value: "central nervous system embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002648" + scope: "oio:hasBroadSynonym" + value: "Paget's disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000640" + scope: "oio:hasRelatedSynonym" + value: "CNS embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012496" + scope: "oio:hasRelatedSynonym" + value: "17q21.31 microdeletion syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002158" + scope: "oio:hasBroadSynonym" + value: "neoplasm of fallopian tube" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0042487" + scope: "oio:hasRelatedSynonym" + value: "severe dysplasia of the cervix uteri" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002679" + scope: "oio:hasRelatedSynonym" + value: "cerebral infarction NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011897" + scope: "oio:hasRelatedSynonym" + value: "TACH syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010951" + scope: "oio:hasRelatedSynonym" + value: "CMD1B" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006700" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of choroid" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003009" + scope: "oio:hasRelatedSynonym" + value: "Cushing's syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006940" + scope: "oio:hasRelatedSynonym" + value: "lesion of radial nerve, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003009" + scope: "oio:hasRelatedSynonym" + value: "Cushing syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005480" + scope: "oio:hasRelatedSynonym" + value: "contact dermatitis NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001528" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of vulva, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004177" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of urethra" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005480" + scope: "oio:hasRelatedSynonym" + value: "dermatitis, venenata NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015229" + scope: "oio:hasRelatedSynonym" + value: "Laurence-Moon syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015229" + scope: "oio:hasRelatedSynonym" + value: "Laurence-Moon-Biedl syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015229" + scope: "oio:hasRelatedSynonym" + value: "Laurence-Moon-Bardet-Biedl syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015397" + scope: "oio:hasExactSynonym" + value: "otomandibular dysostosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005836" + scope: "oio:hasRelatedSynonym" + value: "Male reprod. system cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004177" + scope: "oio:hasRelatedSynonym" + value: "benign urethral neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005341" + scope: "oio:hasRelatedSynonym" + value: "basal cell carcinoma NOS (morphologic abnormality)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002752" + scope: "oio:hasRelatedSynonym" + value: "ovarian adenoacanthoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015459" + scope: "oio:hasBroadSynonym" + value: "nasopharynx cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016686" + scope: "oio:hasRelatedSynonym" + value: "low-grade astrocytoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001062" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of antrum of stomach NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005836" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of male genital organ, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005836" + scope: "oio:hasRelatedSynonym" + value: "Male reproductive system cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005089" + scope: "oio:hasRelatedSynonym" + value: "connective and soft tissue neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002442" + scope: "oio:hasRelatedSynonym" + value: "Romano-Ward syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016695" + scope: "oio:hasRelatedSynonym" + value: "oligodendroglioma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004638" + scope: "oio:hasRelatedSynonym" + value: "malignant lymphoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007906" + scope: "oio:hasRelatedSynonym" + value: "lipoatrophic diabetes" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002724" + scope: "oio:hasRelatedSynonym" + value: "mastocytoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003499" + scope: "oio:hasRelatedSynonym" + value: "squamous cell carcinoma, sarcomatoid" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0024677" + scope: "oio:hasRelatedSynonym" + value: "insulin-producing tumor of islet cells" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001927" + scope: "oio:hasRelatedSynonym" + value: "pulmonic insufficiency NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002714" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of central nervous system, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005638" + scope: "oio:hasRelatedSynonym" + value: "dyspraxia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006277" + scope: "oio:hasRelatedSynonym" + value: "lymphangiomyomatosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "familial platelet syndrome with predisposition to acute myelogenous leukemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011479" + scope: "oio:hasRelatedSynonym" + value: "mitral valve prolapse syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "familial thrombocytopenia with propensity to acute myelogenous leukemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "platelet disorder, familial, with associated myeloid malignancy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002218" + scope: "oio:hasRelatedSynonym" + value: "tumor of temporal lobe" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "platelet disorder, aspirin-like" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006046" + scope: "oio:hasRelatedSynonym" + value: "serous cystadenoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005264" + scope: "oio:hasRelatedSynonym" + value: "transient cerebral ischaemia NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004967" + scope: "oio:hasRelatedSynonym" + value: "acute lymphoblastic leukemia, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "FPS/AML syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005520" + scope: "oio:hasRelatedSynonym" + value: "vitamin D-dependent rickets" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "IBM-3" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0013501" + scope: "oio:hasRelatedSynonym" + value: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "FPDMM" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001700" + scope: "oio:hasRelatedSynonym" + value: "Imerslund-Grasbeck syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "familial platelet disorder with associated myeloid malignancy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "asprin-like platelet disorder" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "IBM2" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000955" + scope: "oio:hasRelatedSynonym" + value: "ileal neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019307" + scope: "oio:hasRelatedSynonym" + value: "JEN-nH" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "distal myopathy with rimmed vacuoles" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "Nonaka myopathy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006734" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of duodenum" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021636" + scope: "oio:hasRelatedSynonym" + value: "cerebral astrocytoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009831" + scope: "oio:hasRelatedSynonym" + value: "pancreatic neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002109" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of pituitary gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012004" + scope: "oio:hasBroadSynonym" + value: "parathyroid cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010150" + scope: "oio:hasRelatedSynonym" + value: "head and neck squamous cell carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009831" + scope: "oio:hasRelatedSynonym" + value: "pancreatic tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0013501" + scope: "oio:hasRelatedSynonym" + value: "amyotrophic lateral sclerosis 14" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015459" + scope: "oio:hasBroadSynonym" + value: "malignant neoplasm of nasopharyngeal wall NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0013501" + scope: "oio:hasRelatedSynonym" + value: "ALS14" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003319" + scope: "oio:hasNarrowSynonym" + value: "scrotum cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015301" + scope: "oio:hasRelatedSynonym" + value: "PCA" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001895" + scope: "oio:hasRelatedSynonym" + value: "retrobulbar neuritis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003184" + scope: "oio:hasRelatedSynonym" + value: "Pancoast's tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001528" + scope: "oio:hasBroadSynonym" + value: "vulvar tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001528" + scope: "oio:hasBroadSynonym" + value: "vulvar neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005215" + scope: "oio:hasBroadSynonym" + value: "vulvar cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002399" + scope: "oio:hasRelatedSynonym" + value: "synovioma, benign" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016698" + scope: "oio:hasRelatedSynonym" + value: "ependymoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "HIBM" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006717" + scope: "oio:hasRelatedSynonym" + value: "dermatofibroma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011122" + scope: "oio:hasRelatedSynonym" + value: "leanness" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004953" + scope: "oio:hasRelatedSynonym" + value: "invasive ductal carcinoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016535" + scope: "oio:hasRelatedSynonym" + value: "Christ-Siemens-Touraine syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006360" + scope: "oio:hasBroadSynonym" + value: "penile cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004953" + scope: "oio:hasRelatedSynonym" + value: "invasive ductal carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0027407" + scope: "oio:hasRelatedSynonym" + value: "obsolete Kleefstra syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012004" + scope: "oio:hasBroadSynonym" + value: "malignant tumor of parathyroid gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002751" + scope: "oio:hasRelatedSynonym" + value: "bladder adenocarcinoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002586" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of thymus" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012004" + scope: "oio:hasBroadSynonym" + value: "neoplasm of parathyroid gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006036" + scope: "oio:hasRelatedSynonym" + value: "malignant granulosa cell neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002798" + scope: "oio:hasRelatedSynonym" + value: "childhood central nervous system embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016684" + scope: "oio:hasRelatedSynonym" + value: "high-grade astrocytoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005100" + scope: "oio:hasRelatedSynonym" + value: "PSS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009861" + scope: "oio:hasRelatedSynonym" + value: "Folling's syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009861" + scope: "oio:hasRelatedSynonym" + value: "Folling's disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009861" + scope: "oio:hasRelatedSynonym" + value: "Følling's disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009861" + scope: "oio:hasRelatedSynonym" + value: "maternal phenylketonuria" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003142" + scope: "oio:hasRelatedSynonym" + value: "intracranial embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002798" + scope: "oio:hasRelatedSynonym" + value: "childhood central nervous system embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008564" + scope: "oio:hasRelatedSynonym" + value: "DiGeorge sequence" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003142" + scope: "oio:hasRelatedSynonym" + value: "intracranial embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002798" + scope: "oio:hasRelatedSynonym" + value: "central nervous system embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "distal myopathy, Nonaka type" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001221" + scope: "oio:hasRelatedSynonym" + value: "esophageal varices without bleeding" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005184" + scope: "oio:hasRelatedSynonym" + value: "pancreatic infiltrating duct carcinoma, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "distal myopathy with rimmed vacuoles (DMRV)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018078" + scope: "oio:hasRelatedSynonym" + value: "non-rhabdomyosarcoma soft tissue sarcoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001221" + scope: "oio:hasRelatedSynonym" + value: "esophageal varices with bleeding" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005184" + scope: "oio:hasRelatedSynonym" + value: "pancreatic infiltrating duct carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "inclusion body myopathy 2" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004613" + scope: "oio:hasRelatedSynonym" + value: "acute git vascular insuffic." + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009861" + scope: "oio:hasRelatedSynonym" + value: "Folling disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "hereditary inclusion body myopathy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004613" + scope: "oio:hasRelatedSynonym" + value: "acute gastrointestinal tract vascular insuffic." + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003454" + scope: "oio:hasBroadSynonym" + value: "neoplasm of conjunctiva" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000632" + scope: "oio:hasRelatedSynonym" + value: "benign uterine neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009875" + scope: "oio:hasRelatedSynonym" + value: "Pingelapese blindness" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018881" + scope: "oio:hasRelatedSynonym" + value: "myelodysplastic syndrome, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007827" + scope: "oio:hasRelatedSynonym" + value: "inclusion body myopathy 3" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007221" + scope: "oio:hasRelatedSynonym" + value: "BDC" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015075" + scope: "oio:hasBroadSynonym" + value: "thyroid cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005627" + scope: "oio:hasRelatedSynonym" + value: "head and neck cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002438" + scope: "oio:hasRelatedSynonym" + value: "polycythemia, secondary" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016064" + scope: "oio:hasRelatedSynonym" + value: "cleft velum" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016218" + scope: "oio:hasRelatedSynonym" + value: "acute infective polyneuritis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006962" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of sebaceous gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005192" + scope: "oio:hasRelatedSynonym" + value: "pancreatic cancer (excluding islets), NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009019" + scope: "oio:hasRelatedSynonym" + value: "Maumenee corneal dystrophy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002078" + scope: "oio:hasRelatedSynonym" + value: "septal defect NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021501" + scope: "oio:hasRelatedSynonym" + value: "benign small intestinal neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005825" + scope: "oio:hasRelatedSynonym" + value: "Weil's disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003427" + scope: "oio:hasRelatedSynonym" + value: "bronchial adenoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016218" + scope: "oio:hasNarrowSynonym" + value: "infectious neuronitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003061" + scope: "oio:hasRelatedSynonym" + value: "myomatous neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011088" + scope: "oio:hasRelatedSynonym" + value: "CMS2A" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015264" + scope: "oio:hasRelatedSynonym" + value: "BOOP" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021521" + scope: "oio:hasRelatedSynonym" + value: "benign mediastinal neoplasms NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003061" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of muscle" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009044" + scope: "oio:hasRelatedSynonym" + value: "Crigler-Najjar syndrome, type I" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011006" + scope: "oio:hasRelatedSynonym" + value: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005833" + scope: "oio:hasRelatedSynonym" + value: "lymphangiopathy, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0017582" + scope: "oio:hasBroadSynonym" + value: "pituitary gland cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018908" + scope: "oio:hasRelatedSynonym" + value: "non-Hodgkin lymphoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018908" + scope: "oio:hasRelatedSynonym" + value: "NHL, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011071" + scope: "oio:hasRelatedSynonym" + value: "FPD/AML syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008767" + scope: "oio:hasRelatedSynonym" + value: "juvenile neuronal ceroid lipofuscinosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003525" + scope: "oio:hasRelatedSynonym" + value: "pancreatic gastrinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003113" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of extragonadal germ cell" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005160" + scope: "oio:hasRelatedSynonym" + value: "ruptured aortic aneurysm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006282" + scope: "oio:hasRelatedSynonym" + value: "skin lymphangiosarcoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019255" + scope: "oio:hasRelatedSynonym" + value: "sphingolipidosis, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0012639" + scope: "oio:hasRelatedSynonym" + value: "IDMDC" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005627" + scope: "oio:hasBroadSynonym" + value: "tumor of head and neck" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019503" + scope: "oio:hasRelatedSynonym" + value: "FOXE3-related ocular disorder" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003514" + scope: "oio:hasRelatedSynonym" + value: "immature teratoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003145" + scope: "oio:hasRelatedSynonym" + value: "supratentorial embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004380" + scope: "oio:hasRelatedSynonym" + value: "dendritic cell tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003145" + scope: "oio:hasRelatedSynonym" + value: "supratentorial embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004380" + scope: "oio:hasRelatedSynonym" + value: "dendritic cell tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002438" + scope: "oio:hasRelatedSynonym" + value: "secondary polycythemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002354" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of larynx" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004100" + scope: "oio:hasRelatedSynonym" + value: "combined small and large cell lung cancer" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002120" + scope: "oio:hasRelatedSynonym" + value: "neuroendocrine cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001125" + scope: "oio:hasRelatedSynonym" + value: "gonococcal epididymo-orchitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004948" + scope: "oio:hasRelatedSynonym" + value: "chronic lymphocytic leukemia, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006883" + scope: "oio:hasRelatedSynonym" + value: "pulmonary sulcus tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018310" + scope: "oio:hasRelatedSynonym" + value: "letterer-Siwe disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010298" + scope: "oio:hasRelatedSynonym" + value: "hypoxanthine-guanine-phosphoribosyltransferase deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008170" + scope: "oio:hasRelatedSynonym" + value: "ovarian cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003141" + scope: "oio:hasRelatedSynonym" + value: "cerebellopontine angle embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004380" + scope: "oio:hasRelatedSynonym" + value: "dendritic cell sarcoma, not otherwise specified (morphologic abnormality)" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005004" + scope: "oio:hasRelatedSynonym" + value: "mesonephroma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003141" + scope: "oio:hasRelatedSynonym" + value: "cerebellopontine angle embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006009" + scope: "oio:hasRelatedSynonym" + value: "epidemic encephalitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005377" + scope: "oio:hasRelatedSynonym" + value: "Finnish congenital nephrosis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011271" + scope: "oio:hasRelatedSynonym" + value: "desmin-related myopathy with Mallory body-like inclusions" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002516" + scope: "oio:hasRelatedSynonym" + value: "gastrointestinal cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010336" + scope: "oio:hasRelatedSynonym" + value: "Edwards syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010298" + scope: "oio:hasRelatedSynonym" + value: "hypoxanthine-guanine phosphoribosyltransferase deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011271" + scope: "oio:hasRelatedSynonym" + value: "early-onset desmin-related myopathy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003072" + scope: "oio:hasBroadSynonym" + value: "neoplasm of retina" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002129" + scope: "oio:hasRelatedSynonym" + value: "bone cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008693" + scope: "oio:hasRelatedSynonym" + value: "poikiloderma with neutropenia, Clericuzio type" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011481" + scope: "oio:hasRelatedSynonym" + value: "craniosynostosis Boston type" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010559" + scope: "oio:hasRelatedSynonym" + value: "L1 syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005374" + scope: "oio:hasNarrowSynonym" + value: "malignant neoplasm of bone marrow" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008056" + scope: "oio:hasRelatedSynonym" + value: "congenital myotonic dystrophy" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0011481" + scope: "oio:hasRelatedSynonym" + value: "craniosynostosis, Boston-type" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0100062" + scope: "oio:hasRelatedSynonym" + value: "epileptic encephalopathy, early infantile, 15" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0010559" + scope: "oio:hasRelatedSynonym" + value: "SPG1" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009427" + scope: "oio:hasRelatedSynonym" + value: "phosphoethanolaminuria" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0009265" + scope: "oio:hasRelatedSynonym" + value: "glucocerebrosidase deficiency" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019476" + scope: "oio:hasRelatedSynonym" + value: "primary cutaneous peripheral T-cell lymphoma NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005570" + scope: "oio:hasRelatedSynonym" + value: "blood dyscrasia NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002635" + scope: "oio:hasRelatedSynonym" + value: "disease of supporting structures of teeth, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004508" + scope: "oio:hasRelatedSynonym" + value: "apical periodontitis NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018544" + scope: "oio:hasRelatedSynonym" + value: "Schilder disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003604" + scope: "oio:hasRelatedSynonym" + value: "growth hormone producing pituitary tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007526" + scope: "oio:hasNarrowSynonym" + value: "Ehlers-Danlos syndrome, progeroid type, 2" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003516" + scope: "oio:hasRelatedSynonym" + value: "adult teratoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0027407" + scope: "oio:hasBroadSynonym" + value: "9q subtelomeric deletion syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0018544" + scope: "oio:hasRelatedSynonym" + value: "Schilder's disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003985" + scope: "oio:hasRelatedSynonym" + value: "malignant tumor of chest wall" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0024296" + scope: "oio:hasRelatedSynonym" + value: "vascular tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003802" + scope: "oio:hasBroadSynonym" + value: "neoplasm of cornea" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003157" + scope: "oio:hasRelatedSynonym" + value: "Gorham disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002817" + scope: "oio:hasBroadSynonym" + value: "neoplasm of adrenal gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006426" + scope: "oio:hasRelatedSynonym" + value: "spinal cord embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015864" + scope: "oio:hasRelatedSynonym" + value: "mixed teratoma and seminoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006426" + scope: "oio:hasRelatedSynonym" + value: "spinal cord embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003985" + scope: "oio:hasRelatedSynonym" + value: "malignant neoplasm of chest wall" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016063" + scope: "oio:hasRelatedSynonym" + value: "PTEN hamartoma syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0003273" + scope: "oio:hasBroadSynonym" + value: "sternal tumor" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002486" + scope: "oio:hasRelatedSynonym" + value: "lobular carcinoma in situ" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002368" + scope: "oio:hasRelatedSynonym" + value: "serous surface papillary carcinoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019613" + scope: "oio:hasRelatedSynonym" + value: "non-functioning neoplasm of the pituitary" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002795" + scope: "oio:hasRelatedSynonym" + value: "adult central nervous system embryonal tumor, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004522" + scope: "oio:hasRelatedSynonym" + value: "sclerosing mesenteritis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019082" + scope: "oio:hasRelatedSynonym" + value: "pemphigoid" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0013225" + scope: "oio:hasRelatedSynonym" + value: "Brunzell syndrome AGPAT2-related" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002795" + scope: "oio:hasRelatedSynonym" + value: "adult central nervous system embryonal tumor, not otherwise specified" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002141" + scope: "oio:hasRelatedSynonym" + value: "vaginal melanoma" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016063" + scope: "oio:hasRelatedSynonym" + value: "Lhermitte-Duclos disease" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005040" + scope: "oio:hasRelatedSynonym" + value: "malignant tumor of the germ cell" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0008280" + scope: "oio:hasRelatedSynonym" + value: "Peutz Jeghers polyp" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0016586" + scope: "oio:hasRelatedSynonym" + value: "systemic mastocytosis, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019297" + scope: "oio:hasRelatedSynonym" + value: "lymphoedema NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007269" + scope: "oio:hasRelatedSynonym" + value: "CMD1A" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021169" + scope: "oio:hasRelatedSynonym" + value: "angiolymphoid hyperplasia with eosinophilia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005626" + scope: "oio:hasRelatedSynonym" + value: "epithelial neoplasms, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0000644" + scope: "oio:hasRelatedSynonym" + value: "benign cervix uteri neoplasm NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005094" + scope: "oio:hasRelatedSynonym" + value: "hemangiopericytoma, malignant" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005295" + scope: "oio:hasRelatedSynonym" + value: "intermittent claudication NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0004993" + scope: "oio:hasRelatedSynonym" + value: "carcinoma, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0005872" + scope: "oio:hasBroadSynonym" + value: "neoplasm of nervous system" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0019027" + scope: "oio:hasRelatedSynonym" + value: "Taybi syndrome" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002158" + scope: "oio:hasRelatedSynonym" + value: "fallopian tube neoplasm" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006869" + scope: "oio:hasRelatedSynonym" + value: "nodular goiter NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0002507" + scope: "oio:hasRelatedSynonym" + value: "gingival enlargement NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021069" + scope: "oio:hasRelatedSynonym" + value: "endocrine cancer, NOS" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0800448" + scope: "oio:hasRelatedSynonym" + value: "CLE" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0021069" + scope: "oio:hasRelatedSynonym" + value: "neoplasm of endocrine gland" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001083" + scope: "oio:hasExactSynonym" + value: "adult Fanconi Anemia" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001319" + scope: "oio:hasExactSynonym" + value: "Lateral Wall of bladder" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0001724" + scope: "oio:hasExactSynonym" + value: "supraglottis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0006011" + scope: "oio:hasExactSynonym" + value: "animal viral hepatitis" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0007947" + scope: "oio:hasExactSynonym" + value: "Contractural arachnodactyly" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0020066" + scope: "oio:hasExactSynonym" + value: "Cutis hyperelastica" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0015364" + scope: "oio:hasExactSynonym" + value: "familial dysautonomia, type II" + reason: "MONDO:CuratorDecision" + - id: "MONDO:0020066" + scope: "oio:hasExactSynonym" + value: "India rubber skin" + reason: "MONDO:CuratorDecision" diff --git a/src/ontology/config/properties.txt b/src/ontology/config/properties.txt index d5af1460..a40c02ea 100644 --- a/src/ontology/config/properties.txt +++ b/src/ontology/config/properties.txt @@ -26,3 +26,5 @@ rdfs:label rdfs:seeAlso owl:deprecated http://purl.org/dc/terms/description +http://purl.obolibrary.org/obo/OMO_0003012 +http://purl.obolibrary.org/obo/mondo#ABBREVIATION diff --git a/src/ontology/external/mondo-omim-genes.robot.owl b/src/ontology/external/mondo-omim-genes.robot.owl index 8f151e05..f004fe37 100644 --- a/src/ontology/external/mondo-omim-genes.robot.owl +++ b/src/ontology/external/mondo-omim-genes.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -4648,12 +4648,6 @@ - - - - - - @@ -33376,37 +33370,19 @@ - - - - - - - - - - - - - - OMIM:605711 - - - - - + - + - + OMIM:605850 @@ -33415,16 +33391,16 @@ - + - + - + OMIM:605909 @@ -33433,16 +33409,16 @@ - + - + - + OMIM:605911 @@ -33451,16 +33427,16 @@ - + - + - + OMIM:605990 @@ -33469,16 +33445,16 @@ - + - + - + OMIM:606003 @@ -33487,16 +33463,16 @@ - + - + - + OMIM:606053 @@ -33505,16 +33481,16 @@ - + - + - + OMIM:606056 @@ -33523,16 +33499,16 @@ - + - + - + OMIM:606068 @@ -33541,16 +33517,16 @@ - + - + - + OMIM:606069 @@ -33559,16 +33535,16 @@ - + - + - + OMIM:606070 @@ -33577,16 +33553,16 @@ - + - + - + OMIM:606164 @@ -33595,16 +33571,16 @@ - + - + - + OMIM:606220 @@ -33613,16 +33589,16 @@ - + - + - + OMIM:606243 @@ -33631,16 +33607,16 @@ - + - + - + OMIM:606324 @@ -33649,16 +33625,16 @@ - + - + - + OMIM:606438 @@ -33667,16 +33643,16 @@ - + - + - + OMIM:606483 @@ -33685,16 +33661,16 @@ - + - + - + OMIM:606545 @@ -33703,16 +33679,16 @@ - + - + - + OMIM:606581 @@ -33721,16 +33697,16 @@ - + - + - + OMIM:606664 @@ -33739,16 +33715,16 @@ - + - + - + OMIM:606713 @@ -33757,16 +33733,16 @@ - + - + - + OMIM:606762 @@ -33775,16 +33751,16 @@ - + - + - + OMIM:606763 @@ -33793,16 +33769,16 @@ - + - + - + OMIM:606766 @@ -33811,16 +33787,16 @@ - + - + - + OMIM:606824 @@ -33829,16 +33805,16 @@ - + - + - + OMIM:606843 @@ -33847,16 +33823,16 @@ - + - + - + OMIM:606856 @@ -33865,16 +33841,16 @@ - + - + - + OMIM:606893 @@ -33883,16 +33859,16 @@ - + - + - + OMIM:606943 @@ -33901,16 +33877,16 @@ - + - + - + OMIM:607039 @@ -33919,16 +33895,16 @@ - + - + - + OMIM:607060 @@ -33937,16 +33913,16 @@ - + - + - + OMIM:607143 @@ -33955,16 +33931,16 @@ - + - + - + OMIM:607151 @@ -33973,16 +33949,16 @@ - + - + - + OMIM:607200 @@ -33991,16 +33967,16 @@ - + - + - + OMIM:607250 @@ -34009,16 +33985,16 @@ - + - + - + OMIM:607259 @@ -34027,16 +34003,16 @@ - + - + - + OMIM:607277 @@ -34045,16 +34021,16 @@ - + - + - + OMIM:607317 @@ -34063,16 +34039,16 @@ - + - + - + OMIM:607330 @@ -34081,16 +34057,16 @@ - + - + - + OMIM:607398 @@ -34099,16 +34075,16 @@ - + - + - + OMIM:607417 @@ -34117,16 +34093,16 @@ - + - + - + OMIM:607453 @@ -34135,16 +34111,16 @@ - + - + - + OMIM:607454 @@ -34153,16 +34129,16 @@ - + - + - + OMIM:607483 @@ -34171,16 +34147,16 @@ - + - + - + OMIM:607594 @@ -34189,16 +34165,16 @@ - + - + - + OMIM:607624 @@ -34207,16 +34183,16 @@ - + - + - + OMIM:607625 @@ -34225,16 +34201,16 @@ - + - + - + OMIM:607626 @@ -34243,16 +34219,16 @@ - + - + - + OMIM:607676 @@ -34261,16 +34237,16 @@ - + - + - + OMIM:607688 @@ -34279,16 +34255,16 @@ - + - + - + OMIM:607765 @@ -34297,16 +34273,16 @@ - + - + - + OMIM:607785 @@ -34315,16 +34291,16 @@ - + - + - + OMIM:607812 @@ -34333,16 +34309,16 @@ - + - + - + OMIM:607831 @@ -34351,16 +34327,16 @@ - + - + - + OMIM:607832 @@ -34369,16 +34345,16 @@ - + - + - + OMIM:607836 @@ -34387,16 +34363,16 @@ - + - + - + OMIM:607842 @@ -34405,16 +34381,16 @@ - + - + - + OMIM:607876 @@ -34423,16 +34399,16 @@ - + - + - + OMIM:607903 @@ -34441,16 +34417,16 @@ - + - + - + OMIM:607921 @@ -34459,16 +34435,16 @@ - + - + - + OMIM:607936 @@ -34477,16 +34453,16 @@ - + - + - + OMIM:607944 @@ -34495,16 +34471,16 @@ - + - + - + OMIM:608022 @@ -34513,16 +34489,16 @@ - + - + - + OMIM:608027 @@ -34531,16 +34507,16 @@ - + - + - + OMIM:608033 @@ -34549,16 +34525,16 @@ - + - + - + OMIM:608097 @@ -34567,16 +34543,16 @@ - + - + - + OMIM:608099 @@ -34585,16 +34561,16 @@ - + - + - + OMIM:608106 @@ -34603,16 +34579,16 @@ - + - + - + OMIM:608118 @@ -34621,16 +34597,16 @@ - + - + - + OMIM:608133 @@ -34639,16 +34615,16 @@ - + - + - + OMIM:608175 @@ -34657,16 +34633,16 @@ - + - + - + OMIM:608224 @@ -34675,16 +34651,16 @@ - + - + - + OMIM:608233 @@ -34693,16 +34669,16 @@ - + - + - + OMIM:608236 @@ -34711,16 +34687,16 @@ - + - + - + OMIM:608265 @@ -34729,16 +34705,16 @@ - + - + - + OMIM:608320 @@ -34747,16 +34723,16 @@ - + - + - + OMIM:608380 @@ -34765,16 +34741,16 @@ - + - + - + OMIM:608423 @@ -34783,16 +34759,16 @@ - + - + - + OMIM:608443 @@ -34801,16 +34777,16 @@ - + - + - + OMIM:608540 @@ -34819,16 +34795,16 @@ - + - + - + OMIM:608565 @@ -34837,16 +34813,16 @@ - + - + - + OMIM:608572 @@ -34855,16 +34831,16 @@ - + - + - + OMIM:608584 @@ -34873,16 +34849,16 @@ - + - + - + OMIM:608594 @@ -34891,16 +34867,16 @@ - + - + - + OMIM:608611 @@ -34909,16 +34885,16 @@ - + - + - + OMIM:608629 @@ -34927,16 +34903,16 @@ - + - + - + OMIM:608643 @@ -34945,16 +34921,16 @@ - + - + - + OMIM:608644 @@ -34963,16 +34939,16 @@ - + - + - + OMIM:608647 @@ -34981,16 +34957,16 @@ - + - + - + OMIM:608649 @@ -34999,16 +34975,16 @@ - + - + - + OMIM:608653 @@ -35017,16 +34993,16 @@ - + - + - + OMIM:608654 @@ -35035,16 +35011,16 @@ - + - + - + OMIM:608681 @@ -35053,16 +35029,16 @@ - + - + - + OMIM:608688 @@ -35071,16 +35047,16 @@ - + - + - + OMIM:608716 @@ -35089,16 +35065,16 @@ - + - + - + OMIM:608747 @@ -35107,16 +35083,16 @@ - + - + - + OMIM:608751 @@ -35125,16 +35101,16 @@ - + - + - + OMIM:608768 @@ -35143,16 +35119,16 @@ - + - + - + OMIM:608779 @@ -35161,16 +35137,16 @@ - + - + - + OMIM:608782 @@ -35179,16 +35155,16 @@ - + - + - + OMIM:608799 @@ -35197,16 +35173,16 @@ - + - + - + OMIM:608800 @@ -35215,16 +35191,16 @@ - + - + - + OMIM:608812 @@ -35233,16 +35209,16 @@ - + - + - + OMIM:608898 @@ -35251,16 +35227,16 @@ - + - + - + OMIM:608907 @@ -35269,16 +35245,16 @@ - + - + - + OMIM:608957 @@ -35287,16 +35263,16 @@ - + - + - + OMIM:608970 @@ -35305,16 +35281,16 @@ - + - + - + OMIM:608971 @@ -35323,16 +35299,16 @@ - + - + - + OMIM:609033 @@ -35341,16 +35317,16 @@ - + - + - + OMIM:609040 @@ -35359,16 +35335,16 @@ - + - + - + OMIM:609048 @@ -35377,16 +35353,16 @@ - + - + - + OMIM:609053 @@ -35395,16 +35371,16 @@ - + - + - + OMIM:609060 @@ -35413,16 +35389,16 @@ - + - + - + OMIM:609115 @@ -35431,16 +35407,16 @@ - + - + - + OMIM:609129 @@ -35449,16 +35425,16 @@ - + - + - + OMIM:609148 @@ -35467,16 +35443,16 @@ - + - + - + OMIM:609180 @@ -35485,16 +35461,16 @@ - + - + - + OMIM:609195 @@ -35503,16 +35479,16 @@ - + - + - + OMIM:609200 @@ -35521,16 +35497,16 @@ - + - + - + OMIM:609218 @@ -35539,16 +35515,16 @@ - + - + - + OMIM:609220 @@ -35557,16 +35533,16 @@ - + - + - + OMIM:609227 @@ -35575,16 +35551,16 @@ - + - + - + OMIM:609254 @@ -35593,16 +35569,16 @@ - + - + - + OMIM:609273 @@ -35611,16 +35587,16 @@ - + - + - + OMIM:609296 @@ -35629,16 +35605,16 @@ - + - + - + OMIM:609304 @@ -35647,16 +35623,16 @@ - + - + - + OMIM:609306 @@ -35665,16 +35641,16 @@ - + - + - + OMIM:609311 @@ -35683,16 +35659,16 @@ - + - + - + OMIM:609313 @@ -35701,16 +35677,16 @@ - + - + - + OMIM:609340 @@ -35719,16 +35695,16 @@ - + - + - + OMIM:609404 @@ -35737,16 +35713,16 @@ - + - + - + OMIM:609460 @@ -35755,16 +35731,16 @@ - + - + - + OMIM:609528 @@ -35773,16 +35749,16 @@ - + - + - + OMIM:609532 @@ -35791,16 +35767,16 @@ - + - + - + OMIM:609541 @@ -35809,16 +35785,16 @@ - + - + - + OMIM:609628 @@ -35827,16 +35803,16 @@ - + - + - + OMIM:609637 @@ -35845,16 +35821,16 @@ - + - + - + OMIM:609646 @@ -35863,16 +35839,16 @@ - + - + - + OMIM:609741 @@ -35881,16 +35857,16 @@ - + - + - + OMIM:609796 @@ -35899,16 +35875,16 @@ - + - + - + OMIM:609812 @@ -35917,16 +35893,16 @@ - + - + - + OMIM:609813 @@ -35935,16 +35911,16 @@ - + - + - + OMIM:609821 @@ -35953,16 +35929,16 @@ - + - + - + OMIM:609823 @@ -35971,16 +35947,16 @@ - + - + - + OMIM:609887 @@ -35989,16 +35965,16 @@ - + - + - + OMIM:609913 @@ -36007,16 +35983,16 @@ - + - + - + OMIM:609923 @@ -36025,16 +36001,16 @@ - + - + - + OMIM:609924 @@ -36043,16 +36019,16 @@ - + - + - + OMIM:609981 @@ -36061,16 +36037,16 @@ - + - + - + OMIM:610006 @@ -36079,16 +36055,16 @@ - + - + - + OMIM:610019 @@ -36097,16 +36073,16 @@ - + - + - + OMIM:610031 @@ -36115,16 +36091,16 @@ - + - + - + OMIM:610048 @@ -36133,16 +36109,16 @@ - + - + - + OMIM:610090 @@ -36151,16 +36127,16 @@ - + - + - + OMIM:610100 @@ -36169,16 +36145,16 @@ - + - + - + OMIM:610102 @@ -36187,16 +36163,16 @@ - + - + - + OMIM:610127 @@ -36205,16 +36181,16 @@ - + - + - + OMIM:610153 @@ -36223,16 +36199,16 @@ - + - + - + OMIM:610154 @@ -36241,16 +36217,16 @@ - + - + - + OMIM:610163 @@ -36259,16 +36235,16 @@ - + - + - + OMIM:610181 @@ -36277,16 +36253,16 @@ - + - + - + OMIM:610198 @@ -36295,16 +36271,16 @@ - + - + - + OMIM:610199 @@ -36313,16 +36289,16 @@ - + - + - + OMIM:610220 @@ -36331,16 +36307,16 @@ - + - + - + OMIM:610227 @@ -36349,16 +36325,16 @@ - + - + - + OMIM:610245 @@ -36367,16 +36343,16 @@ - + - + - + OMIM:610265 @@ -36385,16 +36361,16 @@ - + - + - + OMIM:610293 @@ -36403,16 +36379,16 @@ - + - + - + OMIM:610313 @@ -36421,16 +36397,16 @@ - + - + - + OMIM:610329 @@ -36439,16 +36415,16 @@ - + - + - + OMIM:610333 @@ -36457,16 +36433,16 @@ - + - + - + OMIM:610353 @@ -36475,16 +36451,16 @@ - + - + - + OMIM:610356 @@ -36493,16 +36469,16 @@ - + - + - + OMIM:610359 @@ -36511,16 +36487,16 @@ - + - + - + OMIM:610370 @@ -36529,16 +36505,16 @@ - + - + - + OMIM:610419 @@ -36547,16 +36523,16 @@ - + - + - + OMIM:610425 @@ -36565,16 +36541,16 @@ - + - + - + OMIM:610427 @@ -36583,16 +36559,16 @@ - + - + - + OMIM:610442 @@ -36601,16 +36577,16 @@ - + - + - + OMIM:610443 @@ -36619,16 +36595,16 @@ - + - + - + OMIM:610460 @@ -36637,16 +36613,16 @@ - + - + - + OMIM:610475 @@ -36655,16 +36631,16 @@ - + - + - + OMIM:610478 @@ -36673,16 +36649,16 @@ - + - + - + OMIM:610498 @@ -36691,16 +36667,16 @@ - + - + - + OMIM:610505 @@ -36709,16 +36685,16 @@ - + - + - + OMIM:610508 @@ -36727,16 +36703,16 @@ - + - + - + OMIM:610536 @@ -36745,16 +36721,16 @@ - + - + - + OMIM:610542 @@ -36763,16 +36739,16 @@ - + - + - + OMIM:610599 @@ -36781,16 +36757,16 @@ - + - + - + OMIM:610612 @@ -36799,16 +36775,16 @@ - + - + - + OMIM:610628 @@ -36817,16 +36793,16 @@ - + - + - + OMIM:610629 @@ -36835,16 +36811,16 @@ - + - + - + OMIM:610678 @@ -36853,16 +36829,16 @@ - + - + - + OMIM:610682 @@ -36871,16 +36847,16 @@ - + - + - + OMIM:610687 @@ -36889,16 +36865,16 @@ - + - + - + OMIM:610706 @@ -36907,16 +36883,16 @@ - + - + - + OMIM:610717 @@ -36925,16 +36901,16 @@ - + - + - + OMIM:610725 @@ -36943,16 +36919,16 @@ - + - + - + OMIM:610738 @@ -36961,16 +36937,16 @@ - + - + - + OMIM:610755 @@ -36979,16 +36955,16 @@ - + - + - + OMIM:610758 @@ -36997,16 +36973,16 @@ - + - + - + OMIM:610759 @@ -37015,16 +36991,16 @@ - + - + - + OMIM:610768 @@ -37033,16 +37009,16 @@ - + - + - + OMIM:610773 @@ -37051,16 +37027,16 @@ - + - + - + OMIM:610798 @@ -37069,16 +37045,16 @@ - + - + - + OMIM:610852 @@ -37087,16 +37063,16 @@ - + - + - + OMIM:610878 @@ -37105,16 +37081,16 @@ - + - + - + OMIM:610896 @@ -37123,16 +37099,16 @@ - + - + - + OMIM:610915 @@ -37141,16 +37117,16 @@ - + - + - + OMIM:610921 @@ -37159,16 +37135,16 @@ - + - + - + OMIM:610967 @@ -37177,16 +37153,16 @@ - + - + - + OMIM:610997 @@ -37195,16 +37171,16 @@ - + - + - + OMIM:611022 @@ -37213,16 +37189,16 @@ - + - + - + OMIM:611038 @@ -37231,16 +37207,16 @@ - + - + - + OMIM:611064 @@ -37249,16 +37225,16 @@ - + - + - + OMIM:611081 @@ -37267,16 +37243,16 @@ - + - + - + OMIM:611087 @@ -37285,16 +37261,16 @@ - + - + - + OMIM:611091 @@ -37303,16 +37279,16 @@ - + - + - + OMIM:611093 @@ -37321,16 +37297,16 @@ - + - + - + OMIM:611105 @@ -37339,16 +37315,16 @@ - + - + - + OMIM:611126 @@ -37357,16 +37333,16 @@ - + - + - + OMIM:611174 @@ -37375,16 +37351,16 @@ - + - + - + OMIM:611182 @@ -37393,16 +37369,16 @@ - + - + - + OMIM:611209 @@ -37411,16 +37387,16 @@ - + - + - + OMIM:611263 @@ -37429,16 +37405,16 @@ - + - + - + OMIM:611283 @@ -37447,16 +37423,16 @@ - + - + - + OMIM:611291 @@ -37465,16 +37441,16 @@ - + - + - + OMIM:611302 @@ -37483,16 +37459,16 @@ - + - + - + OMIM:611363 @@ -37501,16 +37477,16 @@ - + - + - + OMIM:611369 @@ -37519,16 +37495,16 @@ - + - + - + OMIM:611391 @@ -37537,16 +37513,16 @@ - + - + - + OMIM:611431 @@ -37555,16 +37531,16 @@ - + - + - + OMIM:611451 @@ -37573,16 +37549,16 @@ - + - + - + OMIM:611489 @@ -37591,16 +37567,16 @@ - + - + - + OMIM:611498 @@ -37609,16 +37585,16 @@ - + - + - + OMIM:611521 @@ -37627,16 +37603,16 @@ - + - + - + OMIM:611523 @@ -37645,16 +37621,16 @@ - + - + - + OMIM:611543 @@ -37663,16 +37639,16 @@ - + - + - + OMIM:611544 @@ -37681,16 +37657,16 @@ - + - + - + OMIM:611548 @@ -37699,16 +37675,16 @@ - + - + - + OMIM:611556 @@ -37717,16 +37693,16 @@ - + - + - + OMIM:611597 @@ -37735,16 +37711,16 @@ - + - + - + OMIM:611603 @@ -37753,16 +37729,16 @@ - + - + - + OMIM:611718 @@ -37771,16 +37747,16 @@ - + - + - + OMIM:611726 @@ -37789,16 +37765,16 @@ - + - + - + OMIM:611762 @@ -37807,16 +37783,16 @@ - + - + - + OMIM:611777 @@ -37825,16 +37801,16 @@ - + - + - + OMIM:611783 @@ -37843,16 +37819,16 @@ - + - + - + OMIM:611804 @@ -37861,16 +37837,16 @@ - + - + - + OMIM:611820 @@ -37879,16 +37855,16 @@ - + - + - + OMIM:611868 @@ -37897,16 +37873,16 @@ - + - + - + OMIM:611876 @@ -37915,16 +37891,16 @@ - + - + - + OMIM:611881 @@ -37933,16 +37909,16 @@ - + - + - + OMIM:611884 @@ -37951,16 +37927,16 @@ - + - + - + OMIM:611895 @@ -37969,16 +37945,16 @@ - + - + - + OMIM:611928 @@ -37987,16 +37963,16 @@ - + - + - + OMIM:611938 @@ -38005,16 +37981,16 @@ - + - + - + OMIM:611943 @@ -38023,16 +37999,16 @@ - + - + - + OMIM:612004 @@ -38041,16 +38017,16 @@ - + - + - + OMIM:612015 @@ -38059,16 +38035,16 @@ - + - + - + OMIM:612016 @@ -38077,16 +38053,16 @@ - + - + - + OMIM:612018 @@ -38095,16 +38071,16 @@ - + - + - + OMIM:612067 @@ -38113,16 +38089,16 @@ - + - + - + OMIM:612073 @@ -38131,16 +38107,16 @@ - + - + - + OMIM:612079 @@ -38149,16 +38125,16 @@ - + - + - + OMIM:612109 @@ -38167,16 +38143,16 @@ - + - + - + OMIM:612119 @@ -38185,16 +38161,16 @@ - + - + - + OMIM:612132 @@ -38203,16 +38179,16 @@ - + - + - + OMIM:612160 @@ -38221,16 +38197,16 @@ - + - + - + OMIM:612164 @@ -38239,16 +38215,16 @@ - + - + - + OMIM:612229 @@ -38257,16 +38233,16 @@ - + - + - + OMIM:612237 @@ -38275,16 +38251,16 @@ - + - + - + OMIM:612240 @@ -38293,16 +38269,16 @@ - + - + - + OMIM:612281 @@ -38311,16 +38287,16 @@ - + - + - + OMIM:612289 @@ -38329,16 +38305,16 @@ - + - + - + OMIM:612291 @@ -38347,16 +38323,16 @@ - + - + - + OMIM:612292 @@ -38365,16 +38341,16 @@ - + - + - + OMIM:612300 @@ -38383,16 +38359,16 @@ - + - + - + OMIM:612310 @@ -38401,16 +38377,16 @@ - + - + - + OMIM:612313 @@ -38419,16 +38395,16 @@ - + - + - + OMIM:612318 @@ -38437,16 +38413,16 @@ - + - + - + OMIM:612319 @@ -38455,16 +38431,16 @@ - + - + - + OMIM:612337 @@ -38473,16 +38449,16 @@ - + - + - + OMIM:612350 @@ -38491,16 +38467,16 @@ - + - + - + OMIM:612356 @@ -38509,16 +38485,16 @@ - + - + - + OMIM:612371 @@ -38527,16 +38503,16 @@ - + - + - + OMIM:612387 @@ -38545,16 +38521,16 @@ - + - + - + OMIM:612389 @@ -38563,16 +38539,16 @@ - + - + - + OMIM:612390 @@ -38581,16 +38557,16 @@ - + - + - + OMIM:612394 @@ -38599,16 +38575,16 @@ - + - + - + OMIM:612423 @@ -38617,16 +38593,16 @@ - + - + - + OMIM:612437 @@ -38635,16 +38611,16 @@ - + - + - + OMIM:612444 @@ -38653,16 +38629,16 @@ - + - + - + OMIM:612446 @@ -38671,16 +38647,16 @@ - + - + - + OMIM:612518 @@ -38689,16 +38665,16 @@ - + - + - + OMIM:612527 @@ -38707,16 +38683,16 @@ - + - + - + OMIM:612528 @@ -38725,16 +38701,16 @@ - + - + - + OMIM:612529 @@ -38743,16 +38719,16 @@ - + - + - + OMIM:612540 @@ -38761,16 +38737,16 @@ - + - + - + OMIM:612551 @@ -38779,16 +38755,16 @@ - + - + - + OMIM:612561 @@ -38797,16 +38773,16 @@ - + - + - + OMIM:612562 @@ -38815,16 +38791,16 @@ - + - + - + OMIM:612563 @@ -38833,16 +38809,16 @@ - + - + - + OMIM:612572 @@ -38851,16 +38827,16 @@ - + - + - + OMIM:612580 @@ -38869,16 +38845,16 @@ - + - + - + OMIM:612621 @@ -38887,16 +38863,16 @@ - + - + - + OMIM:612631 @@ -38905,16 +38881,16 @@ - + - + - + OMIM:612634 @@ -38923,16 +38899,16 @@ - + - + - + OMIM:612649 @@ -38941,16 +38917,16 @@ - + - + - + OMIM:612650 @@ -38959,16 +38935,16 @@ - + - + - + OMIM:612656 @@ -38977,16 +38953,16 @@ - + - + - + OMIM:612674 @@ -38995,16 +38971,16 @@ - + - + - + OMIM:612690 @@ -39013,16 +38989,16 @@ - + - + - + OMIM:612692 @@ -39031,16 +39007,16 @@ - + - + - + OMIM:612702 @@ -39049,16 +39025,16 @@ - + - + - + OMIM:612703 @@ -39067,16 +39043,16 @@ - + - + - + OMIM:612712 @@ -39085,16 +39061,16 @@ - + - + - + OMIM:612714 @@ -39103,16 +39079,16 @@ - + - + - + OMIM:612716 @@ -39121,16 +39097,16 @@ - + - + - + OMIM:612736 @@ -39139,16 +39115,16 @@ - + - + - + OMIM:612775 @@ -39157,16 +39133,16 @@ - + - + - + OMIM:612840 @@ -39175,16 +39151,16 @@ - + - + - + OMIM:612841 @@ -39193,16 +39169,16 @@ - + - + - + OMIM:612900 @@ -39211,16 +39187,16 @@ - + - + - + OMIM:612921 @@ -39229,16 +39205,16 @@ - + - + - + OMIM:612922 @@ -39247,16 +39223,16 @@ - + - + - + OMIM:612932 @@ -39265,16 +39241,16 @@ - + - + - + OMIM:612933 @@ -39283,16 +39259,16 @@ - + - + - + OMIM:612936 @@ -39301,16 +39277,16 @@ - + - + - + OMIM:612949 @@ -39319,16 +39295,16 @@ - + - + - + OMIM:612951 @@ -39337,16 +39313,16 @@ - + - + - + OMIM:612955 @@ -39355,16 +39331,16 @@ - + - + - + OMIM:612961 @@ -39373,16 +39349,16 @@ - + - + - + OMIM:612989 @@ -39391,16 +39367,16 @@ - + - + - + OMIM:612997 @@ -39409,16 +39385,16 @@ - + - + - + OMIM:612999 @@ -39427,16 +39403,16 @@ - + - + - + OMIM:613011 @@ -39445,16 +39421,16 @@ - + - + - + OMIM:613014 @@ -39463,16 +39439,16 @@ - + - + - + OMIM:613027 @@ -39481,16 +39457,16 @@ - + - + - + OMIM:613032 @@ -39499,16 +39475,16 @@ - + - + - + OMIM:613060 @@ -39517,16 +39493,16 @@ - + - + - + OMIM:613068 @@ -39535,16 +39511,16 @@ - + - + - + OMIM:613073 @@ -39553,16 +39529,16 @@ - + - + - + OMIM:613074 @@ -39571,16 +39547,16 @@ - + - + - + OMIM:613075 @@ -39589,16 +39565,16 @@ - + - + - + OMIM:613076 @@ -39607,16 +39583,16 @@ - + - + - + OMIM:613078 @@ -39625,16 +39601,16 @@ - + - + - + OMIM:613079 @@ -39643,16 +39619,16 @@ - + - + - + OMIM:613080 @@ -39661,16 +39637,16 @@ - + - + - + OMIM:613087 @@ -39679,16 +39655,16 @@ - + - + - + OMIM:613091 @@ -39697,16 +39673,16 @@ - + - + - + OMIM:613093 @@ -39715,16 +39691,16 @@ - + - + - + OMIM:613095 @@ -39733,16 +39709,16 @@ - + - + - + OMIM:613100 @@ -39751,16 +39727,16 @@ - + - + - + OMIM:613101 @@ -39769,16 +39745,16 @@ - + - + - + OMIM:613102 @@ -39787,16 +39763,16 @@ - + - + - + OMIM:613115 @@ -39805,16 +39781,16 @@ - + - + - + OMIM:613116 @@ -39823,16 +39799,16 @@ - + - + - + OMIM:613118 @@ -39841,16 +39817,16 @@ - + - + - + OMIM:613119 @@ -39859,16 +39835,16 @@ - + - + - + OMIM:613148 @@ -39877,16 +39853,16 @@ - + - + - + OMIM:613159 @@ -39895,16 +39871,16 @@ - + - + - + OMIM:613161 @@ -39913,16 +39889,16 @@ - + - + - + OMIM:613162 @@ -39931,16 +39907,16 @@ - + - + - + OMIM:613163 @@ -39949,16 +39925,16 @@ - + - + - + OMIM:613172 @@ -39967,16 +39943,16 @@ - + - + - + OMIM:613177 @@ -39985,16 +39961,16 @@ - + - + - + OMIM:613179 @@ -40003,16 +39979,16 @@ - + - + - + OMIM:613192 @@ -40021,16 +39997,16 @@ - + - + - + OMIM:613193 @@ -40039,16 +40015,16 @@ - + - + - + OMIM:613195 @@ -40057,16 +40033,16 @@ - + - + - + OMIM:613204 @@ -40075,16 +40051,16 @@ - + - + - + OMIM:613211 @@ -40093,16 +40069,16 @@ - + - + - + OMIM:613216 @@ -40111,16 +40087,16 @@ - + - + - + OMIM:613227 @@ -40129,16 +40105,16 @@ - + - + - + OMIM:613235 @@ -40147,16 +40123,16 @@ - + - + - + OMIM:613239 @@ -40165,16 +40141,16 @@ - + - + - + OMIM:613280 @@ -40183,16 +40159,16 @@ - + - + - + OMIM:613285 @@ -40201,16 +40177,16 @@ - + - + - + OMIM:613291 @@ -40219,16 +40195,16 @@ - + - + - + OMIM:613307 @@ -40237,16 +40213,16 @@ - + - + - + OMIM:613308 @@ -40255,16 +40231,16 @@ - + - + - + OMIM:613309 @@ -40273,16 +40249,16 @@ - + - + - + OMIM:613310 @@ -40291,16 +40267,16 @@ - + - + - + OMIM:613313 @@ -40309,16 +40285,16 @@ - + - + - + OMIM:613320 @@ -40327,16 +40303,16 @@ - + - + - + OMIM:613327 @@ -40345,16 +40321,16 @@ - + - + - + OMIM:613328 @@ -40363,16 +40339,16 @@ - + - + - + OMIM:613330 @@ -40381,16 +40357,16 @@ - + - + - + OMIM:613375 @@ -40399,16 +40375,16 @@ - + - + - + OMIM:613376 @@ -40417,16 +40393,16 @@ - + - + - + OMIM:613382 @@ -40435,16 +40411,16 @@ - + - + - + OMIM:613385 @@ -40453,16 +40429,16 @@ - + - + - + OMIM:613393 @@ -40471,16 +40447,16 @@ - + - + - + OMIM:613398 @@ -40489,16 +40465,16 @@ - + - + - + OMIM:613404 @@ -40507,16 +40483,16 @@ - + - + - + OMIM:613406 @@ -40525,16 +40501,16 @@ - + - + - + OMIM:613410 @@ -40543,16 +40519,16 @@ - + - + - + OMIM:613411 @@ -40561,16 +40537,16 @@ - + - + - + OMIM:613428 @@ -40579,16 +40555,16 @@ - + - + - + OMIM:613436 @@ -40597,16 +40573,16 @@ - + - + - + OMIM:613453 @@ -40615,16 +40591,16 @@ - + - + - + OMIM:613454 @@ -40633,16 +40609,16 @@ - + - + - + OMIM:613456 @@ -40651,16 +40627,16 @@ - + - + - + OMIM:613470 @@ -40669,16 +40645,16 @@ - + - + - + OMIM:613493 @@ -40687,16 +40663,16 @@ - + - + - + OMIM:613494 @@ -40705,16 +40681,16 @@ - + - + - + OMIM:613495 @@ -40723,16 +40699,16 @@ - + - + - + OMIM:613496 @@ -40741,16 +40717,16 @@ - + - + - + OMIM:613500 @@ -40759,16 +40735,16 @@ - + - + - + OMIM:613501 @@ -40777,16 +40753,16 @@ - + - + - + OMIM:613502 @@ -40795,16 +40771,16 @@ - + - + - + OMIM:613506 @@ -40813,16 +40789,16 @@ - + - + - + OMIM:613517 @@ -40831,16 +40807,16 @@ - + - + - + OMIM:613551 @@ -40849,16 +40825,16 @@ - + - + - + OMIM:613561 @@ -40867,16 +40843,16 @@ - + - + - + OMIM:613582 @@ -40885,16 +40861,16 @@ - + - + - + OMIM:613608 @@ -40903,16 +40879,16 @@ - + - + - + OMIM:613611 @@ -40921,16 +40897,16 @@ - + - + - + OMIM:613612 @@ -40939,16 +40915,16 @@ - + - + - + OMIM:613616 @@ -40957,16 +40933,16 @@ - + - + - + OMIM:613617 @@ -40975,16 +40951,16 @@ - + - + - + OMIM:613625 @@ -40993,16 +40969,16 @@ - + - + - + OMIM:613640 @@ -41011,16 +40987,16 @@ - + - + - + OMIM:613646 @@ -41029,16 +41005,16 @@ - + - + - + OMIM:613647 @@ -41047,16 +41023,16 @@ - + - + - + OMIM:613656 @@ -41065,16 +41041,16 @@ - + - + - + OMIM:613657 @@ -41083,16 +41059,16 @@ - + - + - + OMIM:613661 @@ -41101,16 +41077,16 @@ - + - + - + OMIM:613668 @@ -41119,16 +41095,16 @@ - + - + - + OMIM:613670 @@ -41137,16 +41113,16 @@ - + - + - + OMIM:613671 @@ -41155,16 +41131,16 @@ - + - + - + OMIM:613672 @@ -41173,16 +41149,16 @@ - + - + - + OMIM:613674 @@ -41191,16 +41167,16 @@ - + - + - + OMIM:613680 @@ -41209,16 +41185,16 @@ - + - + - + OMIM:613686 @@ -41227,16 +41203,16 @@ - + - + - + OMIM:613688 @@ -41245,16 +41221,16 @@ - + - + - + OMIM:613705 @@ -41263,16 +41239,16 @@ - + - + - + OMIM:613711 @@ -41281,16 +41257,16 @@ - + - + - + OMIM:613717 @@ -41299,16 +41275,16 @@ - + - + - + OMIM:613718 @@ -41317,16 +41293,16 @@ - + - + - + OMIM:613722 @@ -41335,16 +41311,16 @@ - + - + - + OMIM:613724 @@ -41353,16 +41329,16 @@ - + - + - + OMIM:613728 @@ -41371,16 +41347,16 @@ - + - + - + OMIM:613730 @@ -41389,16 +41365,16 @@ - + - + - + OMIM:613736 @@ -41407,16 +41383,16 @@ - + - + - + OMIM:613743 @@ -41425,16 +41401,16 @@ - + - + - + OMIM:613751 @@ -41443,16 +41419,16 @@ - + - + - + OMIM:613752 @@ -41461,16 +41437,16 @@ - + - + - + OMIM:613756 @@ -41479,16 +41455,16 @@ - + - + - + OMIM:613759 @@ -41497,16 +41473,16 @@ - + - + - + OMIM:613762 @@ -41515,16 +41491,16 @@ - + - + - + OMIM:613767 @@ -41533,16 +41509,16 @@ - + - + - + OMIM:613769 @@ -41551,16 +41527,16 @@ - + - + - + OMIM:613778 @@ -41569,16 +41545,16 @@ - + - + - + OMIM:613789 @@ -41587,16 +41563,16 @@ - + - + - + OMIM:613790 @@ -41605,16 +41581,16 @@ - + - + - + OMIM:613791 @@ -41623,16 +41599,16 @@ - + - + - + OMIM:613795 @@ -41641,16 +41617,16 @@ - + - + - + OMIM:613800 @@ -41659,16 +41635,16 @@ - + - + - + OMIM:613803 @@ -41677,16 +41653,16 @@ - + - + - + OMIM:613804 @@ -41695,16 +41671,16 @@ - + - + - + OMIM:613805 @@ -41713,16 +41689,16 @@ - + - + - + OMIM:613807 @@ -41731,16 +41707,16 @@ - + - + - + OMIM:613808 @@ -41749,16 +41725,16 @@ - + - + - + OMIM:613810 @@ -41767,16 +41743,16 @@ - + - + - + OMIM:613811 @@ -41785,16 +41761,16 @@ - + - + - + OMIM:613827 @@ -41803,16 +41779,16 @@ - + - + - + OMIM:613830 @@ -41821,16 +41797,16 @@ - + - + - + OMIM:613838 @@ -41839,16 +41815,16 @@ - + - + - + OMIM:613839 @@ -41857,16 +41833,16 @@ - + - + - + OMIM:613845 @@ -41875,16 +41851,16 @@ - + - + - + OMIM:613849 @@ -41893,16 +41869,16 @@ - + - + - + OMIM:613852 @@ -41911,16 +41887,16 @@ - + - + - + OMIM:613856 @@ -41929,16 +41905,16 @@ - + - + - + OMIM:613860 @@ -41947,16 +41923,16 @@ - + - + - + OMIM:613862 @@ -41965,16 +41941,16 @@ - + - + - + OMIM:613865 @@ -41983,16 +41959,16 @@ - + - + - + OMIM:613877 @@ -42001,16 +41977,16 @@ - + - + - + OMIM:613887 @@ -42019,16 +41995,16 @@ - + - + - + OMIM:613908 @@ -42037,16 +42013,16 @@ - + - + - + OMIM:613912 @@ -42055,16 +42031,16 @@ - + - + - + OMIM:613933 @@ -42073,16 +42049,16 @@ - + - + - + OMIM:613943 @@ -42091,16 +42067,16 @@ - + - + - + OMIM:613951 @@ -42109,16 +42085,16 @@ - + - + - + OMIM:613953 @@ -42127,16 +42103,16 @@ - + - + - + OMIM:613955 @@ -42145,16 +42121,16 @@ - + - + - + OMIM:613956 @@ -42163,16 +42139,16 @@ - + - + - + OMIM:613958 @@ -42181,16 +42157,16 @@ - + - + - + OMIM:613960 @@ -42199,16 +42175,16 @@ - + - + - + OMIM:613982 @@ -42217,16 +42193,16 @@ - + - + - + OMIM:613983 @@ -42235,16 +42211,16 @@ - + - + - + OMIM:613987 @@ -42253,16 +42229,16 @@ - + - + - + OMIM:613988 @@ -42271,16 +42247,16 @@ - + - + - + OMIM:614008 @@ -42289,16 +42265,16 @@ - + - + - + OMIM:614017 @@ -42307,16 +42283,16 @@ - + - + - + OMIM:614020 @@ -42325,16 +42301,16 @@ - + - + - + OMIM:614021 @@ -42343,16 +42319,16 @@ - + - + - + OMIM:614023 @@ -42361,16 +42337,16 @@ - + - + - + OMIM:614024 @@ -42379,16 +42355,16 @@ - + - + - + OMIM:614028 @@ -42397,16 +42373,16 @@ - + - + - + OMIM:614035 @@ -42415,16 +42391,16 @@ - + - + - + OMIM:614052 @@ -42433,16 +42409,16 @@ - + - + - + OMIM:614053 @@ -42451,16 +42427,16 @@ - + - + - + OMIM:614063 @@ -42469,16 +42445,16 @@ - + - + - + OMIM:614066 @@ -42487,16 +42463,16 @@ - + - + - + OMIM:614067 @@ -42505,16 +42481,16 @@ - + - + - + OMIM:614069 @@ -42523,16 +42499,16 @@ - + - + - + OMIM:614072 @@ -42541,16 +42517,16 @@ - + - + - + OMIM:614073 @@ -42559,16 +42535,16 @@ - + - + - + OMIM:614074 @@ -42577,16 +42553,16 @@ - + - + - + OMIM:614075 @@ -42595,16 +42571,16 @@ - + - + - + OMIM:614076 @@ -42613,16 +42589,16 @@ - + - + - + OMIM:614077 @@ -42631,16 +42607,16 @@ - + - + - + OMIM:614078 @@ -42649,16 +42625,16 @@ - + - + - + OMIM:614079 @@ -42667,16 +42643,16 @@ - + - + - + OMIM:614080 @@ -42685,16 +42661,16 @@ - + - + - + OMIM:614082 @@ -42703,16 +42679,16 @@ - + - + - + OMIM:614083 @@ -42721,16 +42697,16 @@ - + - + - + OMIM:614097 @@ -42739,16 +42715,16 @@ - + - + - + OMIM:614098 @@ -42757,16 +42733,16 @@ - + - + - + OMIM:614102 @@ -42775,16 +42751,16 @@ - + - + - + OMIM:614104 @@ -42793,16 +42769,16 @@ - + - + - + OMIM:614105 @@ -42811,16 +42787,16 @@ - + - + - + OMIM:614111 @@ -42829,16 +42805,16 @@ - + - + - + OMIM:614114 @@ -42847,16 +42823,16 @@ - + - + - + OMIM:614115 @@ -42865,16 +42841,16 @@ - + - + - + OMIM:614122 @@ -42883,16 +42859,16 @@ - + - + - + OMIM:614128 @@ -42901,16 +42877,16 @@ - + - + - + OMIM:614129 @@ -42919,16 +42895,16 @@ - + - + - + OMIM:614131 @@ -42937,16 +42913,16 @@ - + - + - + OMIM:614152 @@ -42955,16 +42931,16 @@ - + - + - + OMIM:614153 @@ -42973,16 +42949,16 @@ - + - + - + OMIM:614156 @@ -42991,16 +42967,16 @@ - + - + - + OMIM:614160 @@ -43009,16 +42985,16 @@ - + - + - + OMIM:614167 @@ -43027,16 +43003,16 @@ - + - + - + OMIM:614170 @@ -43045,16 +43021,16 @@ - + - + - + OMIM:614171 @@ -43063,16 +43039,16 @@ - + - + - + OMIM:614173 @@ -43081,16 +43057,16 @@ - + - + - + OMIM:614181 @@ -43099,16 +43075,16 @@ - + - + - + OMIM:614188 @@ -43117,16 +43093,16 @@ - + - + - + OMIM:614196 @@ -43135,16 +43111,16 @@ - + - + - + OMIM:614201 @@ -43153,16 +43129,16 @@ - + - + - + OMIM:614202 @@ -43171,16 +43147,16 @@ - + - + - + OMIM:614203 @@ -43189,16 +43165,16 @@ - + - + - + OMIM:614204 @@ -43207,16 +43183,16 @@ - + - + - + OMIM:614205 @@ -43225,16 +43201,16 @@ - + - + - + OMIM:614207 @@ -43243,16 +43219,16 @@ - + - + - + OMIM:614219 @@ -43261,16 +43237,16 @@ - + - + - + OMIM:614222 @@ -43279,16 +43255,16 @@ - + - + - + OMIM:614224 @@ -43297,16 +43273,16 @@ - + - + - + OMIM:614226 @@ -43315,16 +43291,16 @@ - + - + - + OMIM:614229 @@ -43333,16 +43309,16 @@ - + - + - + OMIM:614249 @@ -43351,16 +43327,16 @@ - + - + - + OMIM:614250 @@ -43369,16 +43345,16 @@ - + - + - + OMIM:614251 @@ -43387,16 +43363,16 @@ - + - + - + OMIM:614256 @@ -43405,16 +43381,16 @@ - + - + - + OMIM:614257 @@ -43423,16 +43399,16 @@ - + - + - + OMIM:614261 @@ -43441,16 +43417,16 @@ - + - + - + OMIM:614265 @@ -43459,16 +43435,16 @@ - + - + - + OMIM:614278 @@ -43477,16 +43453,16 @@ - + - + - + OMIM:614291 @@ -43495,16 +43471,16 @@ - + - + - + OMIM:614292 @@ -43513,16 +43489,16 @@ - + - + - + OMIM:614293 @@ -43531,16 +43507,16 @@ - + - + - + OMIM:614299 @@ -43549,16 +43525,16 @@ - + - + - + OMIM:614303 @@ -43567,16 +43543,16 @@ - + - + - + OMIM:614324 @@ -43585,16 +43561,16 @@ - + - + - + OMIM:614328 @@ -43603,16 +43579,16 @@ - + - + - + OMIM:614338 @@ -43621,16 +43597,16 @@ - + - + - + OMIM:614340 @@ -43639,16 +43615,16 @@ - + - + - + OMIM:614370 @@ -43657,16 +43633,16 @@ - + - + - + OMIM:614372 @@ -43675,16 +43651,16 @@ - + - + - + OMIM:614379 @@ -43693,16 +43669,16 @@ - + - + - + OMIM:614391 @@ -43711,16 +43687,16 @@ - + - + - + OMIM:614400 @@ -43729,16 +43705,16 @@ - + - + - + OMIM:614402 @@ -43747,16 +43723,16 @@ - + - + - + OMIM:614409 @@ -43765,16 +43741,16 @@ - + - + - + OMIM:614416 @@ -43783,16 +43759,16 @@ - + - + - + OMIM:614420 @@ -43801,16 +43777,16 @@ - + - + - + OMIM:614424 @@ -43819,16 +43795,16 @@ - + - + - + OMIM:614436 @@ -43837,16 +43813,16 @@ - + - + - + OMIM:614437 @@ -43855,16 +43831,16 @@ - + - + - + OMIM:614450 @@ -43873,16 +43849,16 @@ - + - + - + OMIM:614458 @@ -43891,16 +43867,16 @@ - + - + - + OMIM:614462 @@ -43909,16 +43885,16 @@ - + - + - + OMIM:614464 @@ -43927,16 +43903,16 @@ - + - + - + OMIM:614465 @@ -43945,16 +43921,16 @@ - + - + - + OMIM:614466 @@ -43963,16 +43939,16 @@ - + - + - + OMIM:614480 @@ -43981,16 +43957,16 @@ - + - + - + OMIM:614491 @@ -43999,16 +43975,16 @@ - + - + - + OMIM:614493 @@ -44017,16 +43993,16 @@ - + - + - + OMIM:614495 @@ -44035,16 +44011,16 @@ - + - + - + OMIM:614499 @@ -44053,16 +44029,16 @@ - + - + - + OMIM:614501 @@ -44071,16 +44047,16 @@ - + - + - + OMIM:614507 @@ -44089,16 +44065,16 @@ - + - + - + OMIM:614557 @@ -44107,16 +44083,16 @@ - + - + - + OMIM:614561 @@ -44125,16 +44101,16 @@ - + - + - + OMIM:614565 @@ -44143,16 +44119,16 @@ - + - + - + OMIM:614582 @@ -44161,16 +44137,16 @@ - + - + - + OMIM:614607 @@ -44179,16 +44155,16 @@ - + - + - + OMIM:614613 @@ -44197,16 +44173,16 @@ - + - + - + OMIM:614618 @@ -44215,16 +44191,16 @@ - + - + - + OMIM:614619 @@ -44233,16 +44209,16 @@ - + - + - + OMIM:614640 @@ -44251,16 +44227,16 @@ - + - + - + OMIM:614650 @@ -44269,16 +44245,16 @@ - + - + - + OMIM:614651 @@ -44287,16 +44263,16 @@ - + - + - + OMIM:614652 @@ -44305,16 +44281,16 @@ - + - + - + OMIM:614654 @@ -44323,16 +44299,16 @@ - + - + - + OMIM:614662 @@ -44341,16 +44317,16 @@ - + - + - + OMIM:614672 @@ -44359,16 +44335,16 @@ - + - + - + OMIM:614673 @@ -44377,16 +44353,16 @@ - + - + - + OMIM:614675 @@ -44395,16 +44371,16 @@ - + - + - + OMIM:614678 @@ -44413,16 +44389,16 @@ - + - + - + OMIM:614679 @@ -44431,16 +44407,16 @@ - + - + - + OMIM:614680 @@ -44449,16 +44425,16 @@ - + - + - + OMIM:614700 @@ -44467,16 +44443,16 @@ - + - + - + OMIM:614702 @@ -44485,16 +44461,16 @@ - + - + - + OMIM:614707 @@ -44503,16 +44479,16 @@ - + - + - + OMIM:614714 @@ -44521,16 +44497,16 @@ - + - + - + OMIM:614723 @@ -44539,16 +44515,16 @@ - + - + - + OMIM:614727 @@ -44557,16 +44533,16 @@ - + - + - + OMIM:614728 @@ -44575,16 +44551,16 @@ - + - + - + OMIM:614736 @@ -44593,16 +44569,16 @@ - + - + - + OMIM:614739 @@ -44611,16 +44587,16 @@ - + - + - + OMIM:614741 @@ -44629,16 +44605,16 @@ - + - + - + OMIM:614744 @@ -44647,16 +44623,16 @@ - + - + - + OMIM:614748 @@ -44665,16 +44641,16 @@ - + - + - + OMIM:614749 @@ -44683,16 +44659,16 @@ - + - + - + OMIM:614756 @@ -44701,16 +44677,16 @@ - + - + - + OMIM:614779 @@ -44719,16 +44695,16 @@ - + - + - + OMIM:614807 @@ -44737,16 +44713,16 @@ - + - + - + OMIM:614808 @@ -44755,16 +44731,16 @@ - + - + - + OMIM:614809 @@ -44773,16 +44749,16 @@ - + - + - + OMIM:614813 @@ -44791,16 +44767,16 @@ - + - + - + OMIM:614814 @@ -44809,16 +44785,16 @@ - + - + - + OMIM:614816 @@ -44827,16 +44803,16 @@ - + - + - + OMIM:614817 @@ -44845,16 +44821,16 @@ - + - + - + OMIM:614822 @@ -44863,16 +44839,16 @@ - + - + - + OMIM:614832 @@ -44881,16 +44857,16 @@ - + - + - + OMIM:614838 @@ -44899,16 +44875,16 @@ - + - + - + OMIM:614839 @@ -44917,16 +44893,16 @@ - + - + - + OMIM:614840 @@ -44935,16 +44911,16 @@ - + - + - + OMIM:614841 @@ -44953,16 +44929,16 @@ - + - + - + OMIM:614842 @@ -44971,16 +44947,16 @@ - + - + - + OMIM:614845 @@ -44989,16 +44965,16 @@ - + - + - + OMIM:614849 @@ -45007,16 +44983,16 @@ - + - + - + OMIM:614850 @@ -45025,16 +45001,16 @@ - + - + - + OMIM:614851 @@ -45043,16 +45019,16 @@ - + - + - + OMIM:614856 @@ -45061,16 +45037,16 @@ - + - + - + OMIM:614857 @@ -45079,16 +45055,16 @@ - + - + - + OMIM:614868 @@ -45097,16 +45073,16 @@ - + - + - + OMIM:614874 @@ -45115,16 +45091,16 @@ - + - + - + OMIM:614880 @@ -45133,16 +45109,16 @@ - + - + - + OMIM:614881 @@ -45151,16 +45127,16 @@ - + - + - + OMIM:614886 @@ -45169,16 +45145,16 @@ - + - + - + OMIM:614887 @@ -45187,16 +45163,16 @@ - + - + - + OMIM:614889 @@ -45205,16 +45181,16 @@ - + - + - + OMIM:614890 @@ -45223,16 +45199,16 @@ - + - + - + OMIM:614891 @@ -45241,16 +45217,16 @@ - + - + - + OMIM:614897 @@ -45259,16 +45235,16 @@ - + - + - + OMIM:614898 @@ -45277,16 +45253,16 @@ - + - + - + OMIM:614899 @@ -45295,16 +45271,16 @@ - + - + - + OMIM:614900 @@ -45313,16 +45289,16 @@ - + - + - + OMIM:614920 @@ -45331,16 +45307,16 @@ - + - + - + OMIM:614921 @@ -45349,16 +45325,16 @@ - + - + - + OMIM:614922 @@ -45367,16 +45343,16 @@ - + - + - + OMIM:614923 @@ -45385,16 +45361,16 @@ - + - + - + OMIM:614924 @@ -45403,16 +45379,16 @@ - + - + - + OMIM:614926 @@ -45421,16 +45397,16 @@ - + - + - + OMIM:614931 @@ -45439,16 +45415,16 @@ - + - + - + OMIM:614935 @@ -45457,16 +45433,16 @@ - + - + - + OMIM:614944 @@ -45475,16 +45451,16 @@ - + - + - + OMIM:614945 @@ -45493,16 +45469,16 @@ - + - + - + OMIM:614961 @@ -45511,16 +45487,16 @@ - + - + - + OMIM:614962 @@ -45529,16 +45505,16 @@ - + - + - + OMIM:614963 @@ -45547,16 +45523,16 @@ - + - + - + OMIM:614969 @@ -45565,16 +45541,16 @@ - + - + - + OMIM:614974 @@ -45583,16 +45559,16 @@ - + - + - + OMIM:614976 @@ -45601,16 +45577,16 @@ - + - + - + OMIM:614979 @@ -45619,16 +45595,16 @@ - + - + - + OMIM:614980 @@ -45637,16 +45613,16 @@ - + - + - + OMIM:615009 @@ -45655,16 +45631,16 @@ - + - + - + OMIM:615011 @@ -45673,16 +45649,16 @@ - + - + - + OMIM:615023 @@ -45691,16 +45667,16 @@ - + - + - + OMIM:615024 @@ -45709,16 +45685,16 @@ - + - + - + OMIM:615028 @@ -45727,16 +45703,16 @@ - + - + - + OMIM:615030 @@ -45745,16 +45721,16 @@ - + - + - + OMIM:615031 @@ -45763,16 +45739,16 @@ - + - + - + OMIM:615032 @@ -45781,16 +45757,16 @@ - + - + - + OMIM:615033 @@ -45799,16 +45775,16 @@ - + - + - + OMIM:615034 @@ -45817,16 +45793,16 @@ - + - + - + OMIM:615040 @@ -45835,16 +45811,16 @@ - + - + - + OMIM:615041 @@ -45853,16 +45829,16 @@ - + - + - + OMIM:615042 @@ -45871,16 +45847,16 @@ - + - + - + OMIM:615058 @@ -45889,16 +45865,16 @@ - + - + - + OMIM:615059 @@ -45907,16 +45883,16 @@ - + - + - + OMIM:615065 @@ -45925,16 +45901,16 @@ - + - + - + OMIM:615066 @@ -45943,16 +45919,16 @@ - + - + - + OMIM:615067 @@ -45961,16 +45937,16 @@ - + - + - + OMIM:615071 @@ -45979,16 +45955,16 @@ - + - + - + OMIM:615073 @@ -45997,16 +45973,16 @@ - + - + - + OMIM:615074 @@ -46015,16 +45991,16 @@ - + - + - + OMIM:615081 @@ -46033,16 +46009,16 @@ - + - + - + OMIM:615084 @@ -46051,16 +46027,16 @@ - + - + - + OMIM:615085 @@ -46069,16 +46045,16 @@ - + - + - + OMIM:615091 @@ -46087,16 +46063,16 @@ - + - + - + OMIM:615092 @@ -46105,16 +46081,16 @@ - + - + - + OMIM:615095 @@ -46123,16 +46099,16 @@ - + - + - + OMIM:615107 @@ -46141,16 +46117,16 @@ - + - + - + OMIM:615112 @@ -46159,16 +46135,16 @@ - + - + - + OMIM:615113 @@ -46177,16 +46153,16 @@ - + - + - + OMIM:615119 @@ -46195,16 +46171,16 @@ - + - + - + OMIM:615120 @@ -46213,16 +46189,16 @@ - + - + - + OMIM:615122 @@ -46231,16 +46207,16 @@ - + - + - + OMIM:615127 @@ -46249,16 +46225,16 @@ - + - + - + OMIM:615135 @@ -46267,16 +46243,16 @@ - + - + - + OMIM:615155 @@ -46285,16 +46261,16 @@ - + - + - + OMIM:615157 @@ -46303,16 +46279,16 @@ - + - + - + OMIM:615158 @@ -46321,16 +46297,16 @@ - + - + - + OMIM:615159 @@ -46339,16 +46315,16 @@ - + - + - + OMIM:615160 @@ -46357,16 +46333,16 @@ - + - + - + OMIM:615179 @@ -46375,16 +46351,16 @@ - + - + - + OMIM:615181 @@ -46393,16 +46369,16 @@ - + - + - + OMIM:615185 @@ -46411,16 +46387,16 @@ - + - + - + OMIM:615188 @@ -46429,16 +46405,16 @@ - + - + - + OMIM:615191 @@ -46447,16 +46423,16 @@ - + - + - + OMIM:615193 @@ -46465,16 +46441,16 @@ - + - + - + OMIM:615198 @@ -46483,16 +46459,16 @@ - + - + - + OMIM:615207 @@ -46501,16 +46477,16 @@ - + - + - + OMIM:615217 @@ -46519,16 +46495,16 @@ - + - + - + OMIM:615219 @@ -46537,16 +46513,16 @@ - + - + - + OMIM:615222 @@ -46555,16 +46531,16 @@ - + - + - + OMIM:615224 @@ -46573,16 +46549,16 @@ - + - + - + OMIM:615226 @@ -46591,16 +46567,16 @@ - + - + - + OMIM:615233 @@ -46609,16 +46585,16 @@ - + - + - + OMIM:615234 @@ -46627,16 +46603,16 @@ - + - + - + OMIM:615235 @@ -46645,16 +46621,16 @@ - + - + - + OMIM:615238 @@ -46663,16 +46639,16 @@ - + - + - + OMIM:615244 @@ -46681,16 +46657,16 @@ - + - + - + OMIM:615266 @@ -46699,16 +46675,16 @@ - + - + - + OMIM:615267 @@ -46717,16 +46693,16 @@ - + - + - + OMIM:615268 @@ -46735,16 +46711,16 @@ - + - + - + OMIM:615269 @@ -46753,16 +46729,16 @@ - + - + - + OMIM:615270 @@ -46771,16 +46747,16 @@ - + - + - + OMIM:615271 @@ -46789,16 +46765,16 @@ - + - + - + OMIM:615274 @@ -46807,16 +46783,16 @@ - + - + - + OMIM:615277 @@ -46825,16 +46801,16 @@ - + - + - + OMIM:615280 @@ -46843,16 +46819,16 @@ - + - + - + OMIM:615281 @@ -46861,16 +46837,16 @@ - + - + - + OMIM:615282 @@ -46879,16 +46855,16 @@ - + - + - + OMIM:615284 @@ -46897,16 +46873,16 @@ - + - + - + OMIM:615285 @@ -46915,16 +46891,16 @@ - + - + - + OMIM:615286 @@ -46933,16 +46909,16 @@ - + - + - + OMIM:615287 @@ -46951,16 +46927,16 @@ - + - + - + OMIM:615297 @@ -46969,16 +46945,16 @@ - + - + - + OMIM:615327 @@ -46987,16 +46963,16 @@ - + - + - + OMIM:615342 @@ -47005,16 +46981,16 @@ - + - + - + OMIM:615344 @@ -47023,16 +46999,16 @@ - + - + - + OMIM:615346 @@ -47041,16 +47017,16 @@ - + - + - + OMIM:615348 @@ -47059,16 +47035,16 @@ - + - + - + OMIM:615355 @@ -47077,16 +47053,16 @@ - + - + - + OMIM:615356 @@ -47095,16 +47071,16 @@ - + - + - + OMIM:615362 @@ -47113,16 +47089,16 @@ - + - + - + OMIM:615369 @@ -47131,16 +47107,16 @@ - + - + - + OMIM:615374 @@ -47149,16 +47125,16 @@ - + - + - + OMIM:615378 @@ -47167,16 +47143,16 @@ - + - + - + OMIM:615382 @@ -47185,16 +47161,16 @@ - + - + - + OMIM:615387 @@ -47203,16 +47179,16 @@ - + - + - + OMIM:615395 @@ -47221,16 +47197,16 @@ - + - + - + OMIM:615400 @@ -47239,16 +47215,16 @@ - + - + - + OMIM:615401 @@ -47257,16 +47233,16 @@ - + - + - + OMIM:615411 @@ -47275,16 +47251,16 @@ - + - + - + OMIM:615412 @@ -47293,16 +47269,16 @@ - + - + - + OMIM:615413 @@ -47311,16 +47287,16 @@ - + - + - + OMIM:615414 @@ -47329,16 +47305,16 @@ - + - + - + OMIM:615420 @@ -47347,16 +47323,16 @@ - + - + - + OMIM:615431 @@ -47365,16 +47341,16 @@ - + - + - + OMIM:615432 @@ -47383,16 +47359,16 @@ - + - + - + OMIM:615434 @@ -47401,16 +47377,16 @@ - + - + - + OMIM:615436 @@ -47419,16 +47395,16 @@ - + - + - + OMIM:615441 @@ -47437,16 +47413,16 @@ - + - + - + OMIM:615444 @@ -47455,16 +47431,16 @@ - + - + - + OMIM:615451 @@ -47473,16 +47449,16 @@ - + - + - + OMIM:615453 @@ -47491,16 +47467,16 @@ - + - + - + OMIM:615458 @@ -47509,16 +47485,16 @@ - + - + - + OMIM:615468 @@ -47527,16 +47503,16 @@ - + - + - + OMIM:615471 @@ -47545,16 +47521,16 @@ - + - + - + OMIM:615476 @@ -47563,16 +47539,16 @@ - + - + - + OMIM:615481 @@ -47581,16 +47557,16 @@ - + - + - + OMIM:615485 @@ -47599,16 +47575,16 @@ - + - + - + OMIM:615490 @@ -47617,16 +47593,16 @@ - + - + - + OMIM:615493 @@ -47635,16 +47611,16 @@ - + - + - + OMIM:615500 @@ -47653,16 +47629,16 @@ - + - + - + OMIM:615501 @@ -47671,16 +47647,16 @@ - + - + - + OMIM:615502 @@ -47689,16 +47665,16 @@ - + - + - + OMIM:615503 @@ -47707,16 +47683,16 @@ - + - + - + OMIM:615504 @@ -47725,16 +47701,16 @@ - + - + - + OMIM:615505 @@ -47743,16 +47719,16 @@ - + - + - + OMIM:615506 @@ -47761,16 +47737,16 @@ - + - + - + OMIM:615510 @@ -47779,16 +47755,16 @@ - + - + - + OMIM:615511 @@ -47797,16 +47773,16 @@ - + - + - + OMIM:615512 @@ -47815,16 +47791,16 @@ - + - + - + OMIM:615515 @@ -47833,16 +47809,16 @@ - + - + - + OMIM:615523 @@ -47851,16 +47827,16 @@ - + - + - + OMIM:615524 @@ -47869,16 +47845,16 @@ - + - + - + OMIM:615539 @@ -47887,16 +47863,16 @@ - + - + - + OMIM:615540 @@ -47905,16 +47881,16 @@ - + - + - + OMIM:615541 @@ -47923,16 +47899,16 @@ - + - + - + OMIM:615544 @@ -47941,16 +47917,16 @@ - + - + - + OMIM:615545 @@ -47959,16 +47935,16 @@ - + - + - + OMIM:615547 @@ -47977,16 +47953,16 @@ - + - + - + OMIM:615550 @@ -47995,16 +47971,16 @@ - + - + - + OMIM:615551 @@ -48013,16 +47989,16 @@ - + - + - + OMIM:615553 @@ -48031,16 +48007,16 @@ - + - + - + OMIM:615560 @@ -48049,16 +48025,16 @@ - + - + - + OMIM:615565 @@ -48067,16 +48043,16 @@ - + - + - + OMIM:615573 @@ -48085,16 +48061,16 @@ - + - + - + OMIM:615574 @@ -48103,16 +48079,16 @@ - + - + - + OMIM:615575 @@ -48121,16 +48097,16 @@ - + - + - + OMIM:615577 @@ -48139,16 +48115,16 @@ - + - + - + OMIM:615578 @@ -48157,16 +48133,16 @@ - + - + - + OMIM:615583 @@ -48175,16 +48151,16 @@ - + - + - + OMIM:615593 @@ -48193,16 +48169,16 @@ - + - + - + OMIM:615595 @@ -48211,16 +48187,16 @@ - + - + - + OMIM:615597 @@ -48229,16 +48205,16 @@ - + - + - + OMIM:615598 @@ -48247,16 +48223,16 @@ - + - + - + OMIM:615599 @@ -48265,16 +48241,16 @@ - + - + - + OMIM:615605 @@ -48283,16 +48259,16 @@ - + - + - + OMIM:615607 @@ -48301,16 +48277,16 @@ - + - + - + OMIM:615617 @@ -48319,16 +48295,16 @@ - + - + - + OMIM:615629 @@ -48337,16 +48313,16 @@ - + - + - + OMIM:615631 @@ -48355,16 +48331,16 @@ - + - + - + OMIM:615632 @@ -48373,16 +48349,16 @@ - + - + - + OMIM:615633 @@ -48391,16 +48367,16 @@ - + - + - + OMIM:615636 @@ -48409,16 +48385,16 @@ - + - + - + OMIM:615637 @@ -48427,16 +48403,16 @@ - + - + - + OMIM:615663 @@ -48445,16 +48421,16 @@ - + - + - + OMIM:615665 @@ -48463,16 +48439,16 @@ - + - + - + OMIM:615673 @@ -48481,16 +48457,16 @@ - + - + - + OMIM:615681 @@ -48499,16 +48475,16 @@ - + - + - + OMIM:615683 @@ -48517,16 +48493,16 @@ - + - + - + OMIM:615685 @@ -48535,16 +48511,16 @@ - + - + - + OMIM:615703 @@ -48553,16 +48529,16 @@ - + - + - + OMIM:615704 @@ -48571,16 +48547,16 @@ - + - + - + OMIM:615705 @@ -48589,16 +48565,16 @@ - + - + - + OMIM:615707 @@ -48607,16 +48583,16 @@ - + - + - + OMIM:615715 @@ -48625,16 +48601,16 @@ - + - + - + OMIM:615716 @@ -48643,16 +48619,16 @@ - + - + - + OMIM:615721 @@ -48661,16 +48637,16 @@ - + - + - + OMIM:615722 @@ -48679,16 +48655,16 @@ - + - + - + OMIM:615724 @@ -48697,16 +48673,16 @@ - + - + - + OMIM:615725 @@ -48715,16 +48691,16 @@ - + - + - + OMIM:615726 @@ -48733,16 +48709,16 @@ - + - + - + OMIM:615728 @@ -48751,16 +48727,16 @@ - + - + - + OMIM:615731 @@ -48769,16 +48745,16 @@ - + - + - + OMIM:615735 @@ -48787,16 +48763,16 @@ - + - + - + OMIM:615750 @@ -48805,16 +48781,16 @@ - + - + - + OMIM:615751 @@ -48823,16 +48799,16 @@ - + - + - + OMIM:615758 @@ -48841,16 +48817,16 @@ - + - + - + OMIM:615760 @@ -48859,16 +48835,16 @@ - + - + - + OMIM:615761 @@ -48877,16 +48853,16 @@ - + - + - + OMIM:615763 @@ -48895,16 +48871,16 @@ - + - + - + OMIM:615767 @@ -48913,16 +48889,16 @@ - + - + - + OMIM:615770 @@ -48931,16 +48907,16 @@ - + - + - + OMIM:615774 @@ -48949,16 +48925,16 @@ - + - + - + OMIM:615780 @@ -48967,16 +48943,16 @@ - + - + - + OMIM:615785 @@ -48985,16 +48961,16 @@ - + - + - + OMIM:615789 @@ -49003,16 +48979,16 @@ - + - + - + OMIM:615802 @@ -49021,16 +48997,16 @@ - + - + - + OMIM:615803 @@ -49039,16 +49015,16 @@ - + - + - + OMIM:615812 @@ -49057,16 +49033,16 @@ - + - + - + OMIM:615816 @@ -49075,16 +49051,16 @@ - + - + - + OMIM:615817 @@ -49093,16 +49069,16 @@ - + - + - + OMIM:615824 @@ -49111,16 +49087,16 @@ - + - + - + OMIM:615829 @@ -49129,16 +49105,16 @@ - + - + - + OMIM:615833 @@ -49147,16 +49123,16 @@ - + - + - + OMIM:615834 @@ -49165,16 +49141,16 @@ - + - + - + OMIM:615837 @@ -49183,16 +49159,16 @@ - + - + - + OMIM:615838 @@ -49201,16 +49177,16 @@ - + - + - + OMIM:615841 @@ -49219,16 +49195,16 @@ - + - + - + OMIM:615842 @@ -49237,16 +49213,16 @@ - + - + - + OMIM:615851 @@ -49255,16 +49231,16 @@ - + - + - + OMIM:615859 @@ -49273,16 +49249,16 @@ - + - + - + OMIM:615860 @@ -49291,16 +49267,16 @@ - + - + - + OMIM:615861 @@ -49309,16 +49285,16 @@ - + - + - + OMIM:615862 @@ -49327,16 +49303,16 @@ - + - + - + OMIM:615863 @@ -49345,16 +49321,16 @@ - + - + - + OMIM:615866 @@ -49363,16 +49339,16 @@ - + - + - + OMIM:615872 @@ -49381,16 +49357,16 @@ - + - + - + OMIM:615873 @@ -49399,16 +49375,16 @@ - + - + - + OMIM:615877 @@ -49417,16 +49393,16 @@ - + - + - + OMIM:615885 @@ -49435,16 +49411,16 @@ - + - + - + OMIM:615888 @@ -49453,16 +49429,16 @@ - + - + - + OMIM:615895 @@ -49471,16 +49447,16 @@ - + - + - + OMIM:615896 @@ -49489,16 +49465,16 @@ - + - + - + OMIM:615897 @@ -49507,16 +49483,16 @@ - + - + - + OMIM:615905 @@ -49525,16 +49501,16 @@ - + - + - + OMIM:615907 @@ -49543,16 +49519,16 @@ - + - + - + OMIM:615909 @@ -49561,16 +49537,16 @@ - + - + - + OMIM:615917 @@ -49579,16 +49555,16 @@ - + - + - + OMIM:615918 @@ -49597,16 +49573,16 @@ - + - + - + OMIM:615919 @@ -49615,16 +49591,16 @@ - + - + - + OMIM:615922 @@ -49633,16 +49609,16 @@ - + - + - + OMIM:615925 @@ -49651,16 +49627,16 @@ - + - + - + OMIM:615926 @@ -49669,16 +49645,16 @@ - + - + - + OMIM:615934 @@ -49687,16 +49663,16 @@ - + - + - + OMIM:615937 @@ -49705,16 +49681,16 @@ - + - + - + OMIM:615938 @@ -49723,16 +49699,16 @@ - + - + - + OMIM:615942 @@ -49741,16 +49717,16 @@ - + - + - + OMIM:615945 @@ -49759,16 +49735,16 @@ - + - + - + OMIM:615946 @@ -49777,16 +49753,16 @@ - + - + - + OMIM:615947 @@ -49795,16 +49771,16 @@ - + - + - + OMIM:615948 @@ -49813,16 +49789,16 @@ - + - + - + OMIM:615953 @@ -49831,16 +49807,16 @@ - + - + - + OMIM:615954 @@ -49849,16 +49825,16 @@ - + - + - + OMIM:615957 @@ -49867,16 +49843,16 @@ - + - + - + OMIM:615959 @@ -49885,16 +49861,16 @@ - + - + - + OMIM:615960 @@ -49903,16 +49879,16 @@ - + - + - + OMIM:615961 @@ -49921,16 +49897,16 @@ - + - + - + OMIM:615962 @@ -49939,16 +49915,16 @@ - + - + - + OMIM:615966 @@ -49957,16 +49933,16 @@ - + - + - + OMIM:615972 @@ -49975,16 +49951,16 @@ - + - + - + OMIM:615973 @@ -49993,16 +49969,16 @@ - + - + - + OMIM:615974 @@ -50011,16 +49987,16 @@ - + - + - + OMIM:615979 @@ -50029,16 +50005,16 @@ - + - + - + OMIM:615980 @@ -50047,16 +50023,16 @@ - + - + - + OMIM:615982 @@ -50065,16 +50041,16 @@ - + - + - + OMIM:615983 @@ -50083,16 +50059,16 @@ - + - + - + OMIM:615984 @@ -50101,16 +50077,16 @@ - + - + - + OMIM:615986 @@ -50119,16 +50095,16 @@ - + - + - + OMIM:615987 @@ -50137,16 +50113,16 @@ - + - + - + OMIM:615989 @@ -50155,16 +50131,16 @@ - + - + - + OMIM:615994 @@ -50173,16 +50149,16 @@ - + - + - + OMIM:615995 @@ -50191,16 +50167,16 @@ - + - + - + OMIM:615996 @@ -50209,16 +50185,16 @@ - + - + - + OMIM:616001 @@ -50227,16 +50203,16 @@ - + - + - + OMIM:616007 @@ -50245,16 +50221,16 @@ - + - + - + OMIM:616022 @@ -50263,16 +50239,16 @@ - + - + - + OMIM:616025 @@ -50281,16 +50257,16 @@ - + - + - + OMIM:616030 @@ -50299,16 +50275,16 @@ - + - + - + OMIM:616032 @@ -50317,16 +50293,16 @@ - + - + - + OMIM:616034 @@ -50335,16 +50311,16 @@ - + - + - + OMIM:616037 @@ -50353,16 +50329,16 @@ - + - + - + OMIM:616039 @@ -50371,16 +50347,16 @@ - + - + - + OMIM:616042 @@ -50389,16 +50365,16 @@ - + - + - + OMIM:616051 @@ -50407,16 +50383,16 @@ - + - + - + OMIM:616056 @@ -50425,16 +50401,16 @@ - + - + - + OMIM:616059 @@ -50443,16 +50419,16 @@ - + - + - + OMIM:616063 @@ -50461,16 +50437,16 @@ - + - + - + OMIM:616080 @@ -50479,16 +50455,16 @@ - + - + - + OMIM:616081 @@ -50497,16 +50473,16 @@ - + - + - + OMIM:616083 @@ -50515,16 +50491,16 @@ - + - + - + OMIM:616087 @@ -50533,16 +50509,16 @@ - + - + - + OMIM:616106 @@ -50551,16 +50527,16 @@ - + - + - + OMIM:616108 @@ -50569,16 +50545,16 @@ - + - + - + OMIM:616111 @@ -50587,16 +50563,16 @@ - + - + - + OMIM:616116 @@ -50605,16 +50581,16 @@ - + - + - + OMIM:616117 @@ -50623,16 +50599,16 @@ - + - + - + OMIM:616126 @@ -50641,16 +50617,16 @@ - + - + - + OMIM:616127 @@ -50659,16 +50635,16 @@ - + - + - + OMIM:616140 @@ -50677,16 +50653,16 @@ - + - + - + OMIM:616145 @@ -50695,16 +50671,16 @@ - + - + - + OMIM:616158 @@ -50713,16 +50689,16 @@ - + - + - + OMIM:616165 @@ -50731,16 +50707,16 @@ - + - + - + OMIM:616166 @@ -50749,16 +50725,16 @@ - + - + - + OMIM:616171 @@ -50767,16 +50743,16 @@ - + - + - + OMIM:616172 @@ -50785,16 +50761,16 @@ - + - + - + OMIM:616176 @@ -50803,16 +50779,16 @@ - + - + - + OMIM:616185 @@ -50821,16 +50797,16 @@ - + - + - + OMIM:616187 @@ -50839,16 +50815,16 @@ - + - + - + OMIM:616188 @@ -50857,16 +50833,16 @@ - + - + - + OMIM:616192 @@ -50875,16 +50851,16 @@ - + - + - + OMIM:616193 @@ -50893,16 +50869,16 @@ - + - + - + OMIM:616198 @@ -50911,16 +50887,16 @@ - + - + - + OMIM:616200 @@ -50929,16 +50905,16 @@ - + - + - + OMIM:616201 @@ -50947,16 +50923,16 @@ - + - + - + OMIM:616202 @@ -50965,16 +50941,16 @@ - + - + - + OMIM:616204 @@ -50983,16 +50959,16 @@ - + - + - + OMIM:616208 @@ -51001,16 +50977,16 @@ - + - + - + OMIM:616212 @@ -51019,16 +50995,16 @@ - + - + - + OMIM:616219 @@ -51037,16 +51013,16 @@ - + - + - + OMIM:616221 @@ -51055,16 +51031,16 @@ - + - + - + OMIM:616229 @@ -51073,16 +51049,16 @@ - + - + - + OMIM:616230 @@ -51091,16 +51067,16 @@ - + - + - + OMIM:616231 @@ -51109,16 +51085,16 @@ - + - + - + OMIM:616248 @@ -51127,16 +51103,16 @@ - + - + - + OMIM:616249 @@ -51145,16 +51121,16 @@ - + - + - + OMIM:616260 @@ -51163,16 +51139,16 @@ - + - + - + OMIM:616268 @@ -51181,16 +51157,16 @@ - + - + - + OMIM:616269 @@ -51199,16 +51175,16 @@ - + - + - + OMIM:616270 @@ -51217,16 +51193,16 @@ - + - + - + OMIM:616277 @@ -51235,16 +51211,16 @@ - + - + - + OMIM:616278 @@ -51253,16 +51229,16 @@ - + - + - + OMIM:616281 @@ -51271,16 +51247,16 @@ - + - + - + OMIM:616282 @@ -51289,16 +51265,16 @@ - + - + - + OMIM:616287 @@ -51307,16 +51283,16 @@ - + - + - + OMIM:616291 @@ -51325,16 +51301,16 @@ - + - + - + OMIM:616294 @@ -51343,16 +51319,16 @@ - + - + - + OMIM:616295 @@ -51361,16 +51337,16 @@ - + - + - + OMIM:616299 @@ -51379,16 +51355,16 @@ - + - + - + OMIM:616330 @@ -51397,16 +51373,16 @@ - + - + - + OMIM:616331 @@ -51415,16 +51391,16 @@ - + - + - + OMIM:616335 @@ -51433,16 +51409,16 @@ - + - + - + OMIM:616340 @@ -51451,16 +51427,16 @@ - + - + - + OMIM:616341 @@ -51469,16 +51445,16 @@ - + - + - + OMIM:616342 @@ -51487,16 +51463,16 @@ - + - + - + OMIM:616345 @@ -51505,16 +51481,16 @@ - + - + - + OMIM:616351 @@ -51523,16 +51499,16 @@ - + - + - + OMIM:616354 @@ -51541,16 +51517,16 @@ - + - + - + OMIM:616355 @@ -51559,16 +51535,16 @@ - + - + - + OMIM:616357 @@ -51577,16 +51553,16 @@ - + - + - + OMIM:616362 @@ -51595,16 +51571,16 @@ - + - + - + OMIM:616364 @@ -51613,16 +51589,16 @@ - + - + - + OMIM:616366 @@ -51631,16 +51607,16 @@ - + - + - + OMIM:616368 @@ -51649,16 +51625,16 @@ - + - + - + OMIM:616370 @@ -51667,16 +51643,16 @@ - + - + - + OMIM:616395 @@ -51685,16 +51661,16 @@ - + - + - + OMIM:616398 @@ -51703,16 +51679,16 @@ - + - + - + OMIM:616402 @@ -51721,16 +51697,16 @@ - + - + - + OMIM:616410 @@ -51739,16 +51715,16 @@ - + - + - + OMIM:616413 @@ -51757,16 +51733,16 @@ - + - + - + OMIM:616414 @@ -51775,16 +51751,16 @@ - + - + - + OMIM:616415 @@ -51793,16 +51769,16 @@ - + - + - + OMIM:616420 @@ -51811,16 +51787,16 @@ - + - + - + OMIM:616421 @@ -51829,16 +51805,16 @@ - + - + - + OMIM:616433 @@ -51847,16 +51823,16 @@ - + - + - + OMIM:616435 @@ -51865,16 +51841,16 @@ - + - + - + OMIM:616445 @@ -51883,16 +51859,16 @@ - + - + - + OMIM:616449 @@ -51901,16 +51877,16 @@ - + - + - + OMIM:616457 @@ -51919,16 +51895,16 @@ - + - + - + OMIM:616459 @@ -51937,16 +51913,16 @@ - + - + - + OMIM:616460 @@ -51955,16 +51931,16 @@ - + - + - + OMIM:616461 @@ -51973,16 +51949,16 @@ - + - + - + OMIM:616479 @@ -51991,16 +51967,16 @@ - + - + - + OMIM:616481 @@ -52009,16 +51985,16 @@ - + - + - + OMIM:616486 @@ -52027,16 +52003,16 @@ - + - + - + OMIM:616488 @@ -52045,16 +52021,16 @@ - + - + - + OMIM:616489 @@ -52063,16 +52039,16 @@ - + - + - + OMIM:616500 @@ -52081,16 +52057,16 @@ - + - + - + OMIM:616501 @@ -52099,16 +52075,16 @@ - + - + - + OMIM:616502 @@ -52117,16 +52093,16 @@ - + - + - + OMIM:616503 @@ -52135,16 +52111,16 @@ - + - + - + OMIM:616507 @@ -52153,16 +52129,16 @@ - + - + - + OMIM:616511 @@ -52171,16 +52147,16 @@ - + - + - + OMIM:616517 @@ -52189,16 +52165,16 @@ - + - + - + OMIM:616521 @@ -52207,16 +52183,16 @@ - + - + - + OMIM:616532 @@ -52225,16 +52201,16 @@ - + - + - + OMIM:616539 @@ -52243,16 +52219,16 @@ - + - + - + OMIM:616541 @@ -52261,16 +52237,16 @@ - + - + - + OMIM:616549 @@ -52279,16 +52255,16 @@ - + - + - + OMIM:616559 @@ -52297,16 +52273,16 @@ - + - + - + OMIM:616566 @@ -52315,16 +52291,16 @@ - + - + - + OMIM:616576 @@ -52333,16 +52309,16 @@ - + - + - + OMIM:616579 @@ -52351,16 +52327,16 @@ - + - + - + OMIM:616580 @@ -52369,16 +52345,16 @@ - + - + - + OMIM:616589 @@ -52387,16 +52363,16 @@ - + - + - + OMIM:616622 @@ -52405,16 +52381,16 @@ - + - + - + OMIM:616629 @@ -52423,16 +52399,16 @@ - + - + - + OMIM:616631 @@ -52441,16 +52417,16 @@ - + - + - + OMIM:616640 @@ -52459,16 +52435,16 @@ - + - + - + OMIM:616657 @@ -52477,16 +52453,16 @@ - + - + - + OMIM:616672 @@ -52495,16 +52471,16 @@ - + - + - + OMIM:616680 @@ -52513,16 +52489,16 @@ - + - + - + OMIM:616681 @@ -52531,16 +52507,16 @@ - + - + - + OMIM:616689 @@ -52549,16 +52525,16 @@ - + - + - + OMIM:616707 @@ -52567,16 +52543,16 @@ - + - + - + OMIM:616708 @@ -52585,16 +52561,16 @@ - + - + - + OMIM:616710 @@ -52603,16 +52579,16 @@ - + - + - + OMIM:616719 @@ -52621,16 +52597,16 @@ - + - + - + OMIM:616720 @@ -52639,16 +52615,16 @@ - + - + - + OMIM:616721 @@ -52657,16 +52633,16 @@ - + - + - + OMIM:616722 @@ -52675,16 +52651,16 @@ - + - + - + OMIM:616723 @@ -52693,16 +52669,16 @@ - + - + - + OMIM:616726 @@ -52711,16 +52687,16 @@ - + - + - + OMIM:616728 @@ -52729,16 +52705,16 @@ - + - + - + OMIM:616734 @@ -52747,16 +52723,16 @@ - + - + - + OMIM:616736 @@ -52765,16 +52741,16 @@ - + - + - + OMIM:616737 @@ -52783,16 +52759,16 @@ - + - + - + OMIM:616738 @@ -52801,16 +52777,16 @@ - + - + - + OMIM:616740 @@ -52819,16 +52795,16 @@ - + - + - + OMIM:616749 @@ -52837,16 +52813,16 @@ - + - + - + OMIM:616754 @@ -52855,16 +52831,16 @@ - + - + - + OMIM:616756 @@ -52873,16 +52849,16 @@ - + - + - + OMIM:616760 @@ -52891,16 +52867,16 @@ - + - + - + OMIM:616763 @@ -52909,16 +52885,16 @@ - + - + - + OMIM:616777 @@ -52927,16 +52903,16 @@ - + - + - + OMIM:616784 @@ -52945,16 +52921,16 @@ - + - + - + OMIM:616788 @@ -52963,16 +52939,16 @@ - + - + - + OMIM:616789 @@ -52981,16 +52957,16 @@ - + - + - + OMIM:616794 @@ -52999,16 +52975,16 @@ - + - + - + OMIM:616801 @@ -53017,16 +52993,16 @@ - + - + - + OMIM:616803 @@ -53035,16 +53011,16 @@ - + - + - + OMIM:616809 @@ -53053,16 +53029,16 @@ - + - + - + OMIM:616811 @@ -53071,16 +53047,16 @@ - + - + - + OMIM:616812 @@ -53089,16 +53065,16 @@ - + - + - + OMIM:616814 @@ -53107,16 +53083,16 @@ - + - + - + OMIM:616816 @@ -53125,16 +53101,16 @@ - + - + - + OMIM:616817 @@ -53143,16 +53119,16 @@ - + - + - + OMIM:616818 @@ -53161,16 +53137,16 @@ - + - + - + OMIM:616819 @@ -53179,16 +53155,16 @@ - + - + - + OMIM:616827 @@ -53197,16 +53173,16 @@ - + - + - + OMIM:616828 @@ -53215,16 +53191,16 @@ - + - + - + OMIM:616829 @@ -53233,16 +53209,16 @@ - + - + - + OMIM:616833 @@ -53251,16 +53227,16 @@ - + - + - + OMIM:616834 @@ -53269,16 +53245,16 @@ - + - + - + OMIM:616835 @@ -53287,16 +53263,16 @@ - + - + - + OMIM:616839 @@ -53305,16 +53281,16 @@ - + - + - + OMIM:616840 @@ -53323,16 +53299,16 @@ - + - + - + OMIM:616851 @@ -53341,16 +53317,16 @@ - + - + - + OMIM:616868 @@ -53359,16 +53335,16 @@ - + - + - + OMIM:616871 @@ -53377,16 +53353,16 @@ - + - + - + OMIM:616873 @@ -53395,16 +53371,16 @@ - + - + - + OMIM:616875 @@ -53413,16 +53389,16 @@ - + - + - + OMIM:616881 @@ -53431,16 +53407,16 @@ - + - + - + OMIM:616882 @@ -53449,16 +53425,16 @@ - + - + - + OMIM:616892 @@ -53467,16 +53443,16 @@ - + - + - + OMIM:616893 @@ -53485,16 +53461,16 @@ - + - + - + OMIM:616894 @@ -53503,16 +53479,16 @@ - + - + - + OMIM:616897 @@ -53521,16 +53497,16 @@ - + - + - + OMIM:616900 @@ -53539,16 +53515,16 @@ - + - + - + OMIM:616903 @@ -53557,16 +53533,16 @@ - + - + - + OMIM:616907 @@ -53575,16 +53551,16 @@ - + - + - + OMIM:616910 @@ -53593,16 +53569,16 @@ - + - + - + OMIM:616911 @@ -53611,16 +53587,16 @@ - + - + - + OMIM:616913 @@ -53629,16 +53605,16 @@ - + - + - + OMIM:616939 @@ -53647,16 +53623,16 @@ - + - + - + OMIM:616943 @@ -53665,16 +53641,16 @@ - + - + - + OMIM:616948 @@ -53683,16 +53659,16 @@ - + - + - + OMIM:616949 @@ -53701,16 +53677,16 @@ - + - + - + OMIM:616954 @@ -53719,16 +53695,16 @@ - + - + - + OMIM:616968 @@ -53737,16 +53713,16 @@ - + - + - + OMIM:616969 @@ -53755,16 +53731,16 @@ - + - + - + OMIM:616974 @@ -53773,16 +53749,16 @@ - + - + - + OMIM:616975 @@ -53791,16 +53767,16 @@ - + - + - + OMIM:616977 @@ -53809,16 +53785,16 @@ - + - + - + OMIM:616981 @@ -53827,16 +53803,16 @@ - + - + - + OMIM:617004 @@ -53845,16 +53821,16 @@ - + - + - + OMIM:617008 @@ -53863,16 +53839,16 @@ - + - + - + OMIM:617011 @@ -53881,16 +53857,16 @@ - + - + - + OMIM:617020 @@ -53899,16 +53875,16 @@ - + - + - + OMIM:617023 @@ -53917,16 +53893,16 @@ - + - + - + OMIM:617026 @@ -53935,16 +53911,16 @@ - + - + - + OMIM:617028 @@ -53953,16 +53929,16 @@ - + - + - + OMIM:617030 @@ -53971,16 +53947,16 @@ - + - + - + OMIM:617044 @@ -53989,16 +53965,16 @@ - + - + - + OMIM:617049 @@ -54007,16 +53983,16 @@ - + - + - + OMIM:617050 @@ -54025,16 +54001,16 @@ - + - + - + OMIM:617051 @@ -54043,16 +54019,16 @@ - + - + - + OMIM:617052 @@ -54061,16 +54037,16 @@ - + - + - + OMIM:617054 @@ -54079,16 +54055,16 @@ - + - + - + OMIM:617062 @@ -54097,16 +54073,16 @@ - + - + - + OMIM:617063 @@ -54115,16 +54091,16 @@ - + - + - + OMIM:617065 @@ -54133,16 +54109,16 @@ - + - + - + OMIM:617072 @@ -54151,16 +54127,16 @@ - + - + - + OMIM:617075 @@ -54169,16 +54145,16 @@ - + - + - + OMIM:617086 @@ -54187,16 +54163,16 @@ - + - + - + OMIM:617088 @@ -54205,16 +54181,16 @@ - + - + - + OMIM:617090 @@ -54223,16 +54199,16 @@ - + - + - + OMIM:617091 @@ -54241,16 +54217,16 @@ - + - + - + OMIM:617092 @@ -54259,16 +54235,16 @@ - + - + - + OMIM:617093 @@ -54277,16 +54253,16 @@ - + - + - + OMIM:617101 @@ -54295,16 +54271,16 @@ - + - + - + OMIM:617102 @@ -54313,16 +54289,16 @@ - + - + - + OMIM:617105 @@ -54331,16 +54307,16 @@ - + - + - + OMIM:617107 @@ -54349,16 +54325,16 @@ - + - + - + OMIM:617108 @@ -54367,16 +54343,16 @@ - + - + - + OMIM:617111 @@ -54385,16 +54361,16 @@ - + - + - + OMIM:617114 @@ -54403,16 +54379,16 @@ - + - + - + OMIM:617115 @@ -54421,16 +54397,16 @@ - + - + - + OMIM:617116 @@ -54439,16 +54415,16 @@ - + - + - + OMIM:617118 @@ -54457,16 +54433,16 @@ - + - + - + OMIM:617125 @@ -54475,16 +54451,16 @@ - + - + - + OMIM:617126 @@ -54493,16 +54469,16 @@ - + - + - + OMIM:617140 @@ -54511,16 +54487,16 @@ - + - + - + OMIM:617141 @@ -54529,16 +54505,16 @@ - + - + - + OMIM:617142 @@ -54547,16 +54523,16 @@ - + - + - + OMIM:617153 @@ -54565,16 +54541,16 @@ - + - + - + OMIM:617156 @@ -54583,16 +54559,16 @@ - + - + - + OMIM:617157 @@ -54601,16 +54577,16 @@ - + - + - + OMIM:617159 @@ -54619,16 +54595,16 @@ - + - + - + OMIM:617162 @@ -54637,16 +54613,16 @@ - + - + - + OMIM:617164 @@ -54655,16 +54631,16 @@ - + - + - + OMIM:617166 @@ -54673,16 +54649,16 @@ - + - + - + OMIM:617168 @@ -54691,16 +54667,16 @@ - + - + - + OMIM:617175 @@ -54709,16 +54685,16 @@ - + - + - + OMIM:617187 @@ -54727,16 +54703,16 @@ - + - + - + OMIM:617188 @@ -54745,16 +54721,16 @@ - + - + - + OMIM:617190 @@ -54763,16 +54739,16 @@ - + - + - + OMIM:617194 @@ -54781,16 +54757,16 @@ - + - + - + OMIM:617201 @@ -54799,16 +54775,16 @@ - + - + - + OMIM:617205 @@ -54817,16 +54793,16 @@ - + - + - + OMIM:617213 @@ -54835,16 +54811,16 @@ - + - + - + OMIM:617214 @@ -54853,16 +54829,16 @@ - + - + - + OMIM:617217 @@ -54871,16 +54847,16 @@ - + - + - + OMIM:617228 @@ -54889,16 +54865,16 @@ - + - + - + OMIM:617234 @@ -54907,16 +54883,16 @@ - + - + - + OMIM:617238 @@ -54925,16 +54901,16 @@ - + - + - + OMIM:617239 @@ -54943,16 +54919,16 @@ - + - + - + OMIM:617241 @@ -54961,16 +54937,16 @@ - + - + - + OMIM:617243 @@ -54979,16 +54955,16 @@ - + - + - + OMIM:617251 @@ -54997,16 +54973,16 @@ - + - + - + OMIM:617252 @@ -55015,16 +54991,16 @@ - + - + - + OMIM:617253 @@ -55033,16 +55009,16 @@ - + - + - + OMIM:617255 @@ -55051,16 +55027,16 @@ - + - + - + OMIM:617258 @@ -55069,16 +55045,16 @@ - + - + - + OMIM:617260 @@ -55087,16 +55063,16 @@ - + - + - + OMIM:617268 @@ -55105,16 +55081,16 @@ - + - + - + OMIM:617270 @@ -55123,16 +55099,16 @@ - + - + - + OMIM:617271 @@ -55141,16 +55117,16 @@ - + - + - + OMIM:617275 @@ -55159,16 +55135,16 @@ - + - + - + OMIM:617276 @@ -55177,16 +55153,16 @@ - + - + - + OMIM:617280 @@ -55195,16 +55171,16 @@ - + - + - + OMIM:617281 @@ -55213,16 +55189,16 @@ - + - + - + OMIM:617290 @@ -55231,16 +55207,16 @@ - + - + - + OMIM:617297 @@ -55249,16 +55225,16 @@ - + - + - + OMIM:617301 @@ -55267,16 +55243,16 @@ - + - + - + OMIM:617302 @@ -55285,16 +55261,16 @@ - + - + - + OMIM:617303 @@ -55303,16 +55279,16 @@ - + - + - + OMIM:617304 @@ -55321,16 +55297,16 @@ - + - + - + OMIM:617308 @@ -55339,16 +55315,16 @@ - + - + - + OMIM:617319 @@ -55357,16 +55333,16 @@ - + - + - + OMIM:617320 @@ -55375,16 +55351,16 @@ - + - + - + OMIM:617323 @@ -55393,16 +55369,16 @@ - + - + - + OMIM:617330 @@ -55411,16 +55387,16 @@ - + - + - + OMIM:617333 @@ -55429,16 +55405,16 @@ - + - + - + OMIM:617337 @@ -55447,16 +55423,16 @@ - + - + - + OMIM:617339 @@ -55465,16 +55441,16 @@ - + - + - + OMIM:617341 @@ -55483,16 +55459,16 @@ - + - + - + OMIM:260350 @@ -55501,16 +55477,16 @@ - + - + - + OMIM:225400 @@ -55519,16 +55495,16 @@ - + - + - + OMIM:164500 @@ -55537,16 +55513,16 @@ - + - + - + OMIM:618625 @@ -55555,16 +55531,16 @@ - + - + - + OMIM:251950 @@ -55573,16 +55549,16 @@ - + - + - + OMIM:615710 @@ -55591,16 +55567,16 @@ - + - + - + OMIM:618049 @@ -55609,16 +55585,16 @@ - + - + - + OMIM:608579 @@ -55627,16 +55603,16 @@ - + - + - + OMIM:609056 @@ -55645,16 +55621,16 @@ - + - + - + OMIM:619290 @@ -55663,16 +55639,16 @@ - + - + - + OMIM:614833 @@ -55681,16 +55657,16 @@ - + - + - + OMIM:602079 @@ -55699,16 +55675,16 @@ - + - + - + OMIM:618372 @@ -55717,16 +55693,16 @@ - + - + - + OMIM:616878 @@ -55735,16 +55711,16 @@ - + - + - + OMIM:617397 @@ -55753,16 +55729,16 @@ - + - + - + OMIM:614286 @@ -55771,16 +55747,16 @@ - + - + - + OMIM:300842 @@ -55789,16 +55765,16 @@ - + - + - + OMIM:117550 @@ -55807,16 +55783,16 @@ - + - + - + OMIM:618398 @@ -55825,16 +55801,16 @@ - + - + - + OMIM:618660 @@ -55843,16 +55819,16 @@ - + - + - + OMIM:130010 @@ -55861,16 +55837,16 @@ - + - + - + OMIM:612847 @@ -55879,16 +55855,16 @@ - + - + - + OMIM:617507 @@ -55897,16 +55873,16 @@ - + - + - + OMIM:603896 @@ -55915,16 +55891,16 @@ - + - + - + OMIM:110900 @@ -55933,16 +55909,16 @@ - + - + - + OMIM:111000 @@ -55951,16 +55927,16 @@ - + - + - + OMIM:111250 @@ -55969,16 +55945,16 @@ - + - + - + OMIM:111380 @@ -55987,16 +55963,16 @@ - + - + - + OMIM:112100 @@ -56005,16 +55981,16 @@ - + - + - + OMIM:617829 @@ -56023,16 +55999,16 @@ - + - + - + OMIM:618142 @@ -56041,16 +56017,16 @@ - + - + - + OMIM:601776 @@ -56059,16 +56035,16 @@ - + - + - + OMIM:130070 @@ -56077,16 +56053,16 @@ - + - + - + OMIM:130080 @@ -56095,16 +56071,16 @@ - + - + - + OMIM:277300 @@ -56113,16 +56089,16 @@ - + - + - + OMIM:251900 @@ -56131,16 +56107,16 @@ - + - + - + OMIM:274400 @@ -56149,16 +56125,16 @@ - + - + - + OMIM:615237 @@ -56167,16 +56143,16 @@ - + - + - + OMIM:264700 @@ -56185,16 +56161,16 @@ - + - + - + OMIM:174000 @@ -56203,16 +56179,16 @@ - + - + - + OMIM:220150 @@ -56221,16 +56197,16 @@ - + - + - + OMIM:601495 @@ -56239,16 +56215,16 @@ - + - + - + OMIM:612874 @@ -56257,16 +56233,16 @@ - + - + - + OMIM:191480 @@ -56275,16 +56251,16 @@ - + - + - + OMIM:616732 @@ -56293,16 +56269,16 @@ - + - + - + OMIM:143880 @@ -56311,16 +56287,16 @@ - + - + - + OMIM:266100 @@ -56329,16 +56305,16 @@ - + - + - + OMIM:618666 @@ -56347,16 +56323,16 @@ - + - + - + OMIM:221770 @@ -56365,16 +56341,16 @@ - + - + - + OMIM:618193 @@ -56383,16 +56359,16 @@ - + - + - + OMIM:618182 @@ -56401,16 +56377,16 @@ - + - + - + OMIM:618646 @@ -56419,16 +56395,16 @@ - + - + - + OMIM:618387 @@ -56437,16 +56413,16 @@ - + - + - + OMIM:618005 @@ -56455,16 +56431,16 @@ - + - + - + OMIM:618324 @@ -56473,16 +56449,16 @@ - + - + - + OMIM:617236 @@ -56491,16 +56467,16 @@ - + - + - + OMIM:618358 @@ -56509,16 +56485,16 @@ - + - + - + OMIM:617186 @@ -56527,16 +56503,16 @@ - + - + - + OMIM:612975 @@ -56545,16 +56521,16 @@ - + - + - + OMIM:251290 @@ -56563,16 +56539,16 @@ - + - + - + OMIM:607313 @@ -56581,16 +56557,16 @@ - + - + - + OMIM:122100 @@ -56599,16 +56575,16 @@ - + - + - + OMIM:618908 @@ -56617,16 +56593,16 @@ - + - + - + OMIM:601680 @@ -56635,16 +56611,16 @@ - + - + - + OMIM:617996 @@ -56653,16 +56629,16 @@ - + - + - + OMIM:618042 @@ -56671,16 +56647,16 @@ - + - + - + OMIM:618103 @@ -56689,16 +56665,16 @@ - + - + - + OMIM:618106 @@ -56707,16 +56683,16 @@ - + - + - + OMIM:618109 @@ -56725,16 +56701,16 @@ - + - + - + OMIM:618110 @@ -56743,16 +56719,16 @@ - + - + - + OMIM:618112 @@ -56761,16 +56737,16 @@ - + - + - + OMIM:618116 @@ -56779,16 +56755,16 @@ - + - + - + OMIM:618120 @@ -56797,16 +56773,16 @@ - + - + - + OMIM:235200 @@ -56815,16 +56791,16 @@ - + - + - + OMIM:234050 @@ -56833,16 +56809,16 @@ - + - + - + OMIM:603511 @@ -56851,16 +56827,16 @@ - + - + - + OMIM:203650 @@ -56869,16 +56845,16 @@ - + - + - + OMIM:218330 @@ -56887,16 +56863,16 @@ - + - + - + OMIM:617607 @@ -56905,16 +56881,16 @@ - + - + - + OMIM:616780 @@ -56923,16 +56899,16 @@ - + - + - + OMIM:617712 @@ -56941,16 +56917,16 @@ - + - + - + OMIM:617743 @@ -56959,16 +56935,16 @@ - + - + - + OMIM:619320 @@ -56977,16 +56953,16 @@ - + - + - + OMIM:619340 @@ -56995,16 +56971,16 @@ - + - + - + OMIM:619369 @@ -57013,16 +56989,16 @@ - + - + - + OMIM:619379 @@ -57031,16 +57007,16 @@ - + - + - + OMIM:248600 @@ -57049,16 +57025,16 @@ - + - + - + OMIM:620698 @@ -57067,16 +57043,16 @@ - + - + - + OMIM:620699 @@ -57085,16 +57061,16 @@ - + - + - + OMIM:218700 @@ -57103,16 +57079,16 @@ - + - + - + OMIM:617039 @@ -57121,16 +57097,16 @@ - + - + - + OMIM:180700 @@ -57139,16 +57115,16 @@ - + - + - + OMIM:613038 @@ -57157,16 +57133,16 @@ - + - + - + OMIM:610913 @@ -57175,16 +57151,16 @@ - + - + - + OMIM:137800 @@ -57193,16 +57169,16 @@ - + - + - + OMIM:100300 @@ -57211,16 +57187,16 @@ - + - + - + OMIM:191830 @@ -57229,16 +57205,16 @@ - + - + - + OMIM:105250 @@ -57247,16 +57223,16 @@ - + - + - + OMIM:202200 @@ -57265,16 +57241,16 @@ - + - + - + OMIM:213600 @@ -57283,16 +57259,16 @@ - + - + - + OMIM:224050 @@ -57301,16 +57277,16 @@ - + - + - + OMIM:229200 @@ -57319,16 +57295,16 @@ - + - + - + OMIM:308240 @@ -57337,16 +57313,16 @@ - + - + - + OMIM:309801 @@ -57355,16 +57331,16 @@ - + - + - + OMIM:600462 @@ -57373,16 +57349,16 @@ - + - + - + OMIM:600721 @@ -57391,16 +57367,16 @@ - + - + - + OMIM:604004 @@ -57409,16 +57385,16 @@ - + - + - + OMIM:604391 @@ -57427,16 +57403,16 @@ - + - + - + OMIM:605432 @@ -57445,16 +57421,16 @@ - + - + - + OMIM:610551 @@ -57463,16 +57439,16 @@ - + - + - + OMIM:612199 @@ -57481,16 +57457,16 @@ - + - + - + OMIM:613573 @@ -57499,16 +57475,16 @@ - + - + - + OMIM:615438 @@ -57517,16 +57493,16 @@ - + - + - + OMIM:617404 @@ -57535,16 +57511,16 @@ - + - + - + OMIM:301074 @@ -57553,16 +57529,16 @@ - + - + - + OMIM:301076 @@ -57571,16 +57547,16 @@ - + - + - + OMIM:301077 @@ -57589,16 +57565,16 @@ - + - + - + OMIM:301078 @@ -57607,16 +57583,16 @@ - + - + - + OMIM:301082 @@ -57625,16 +57601,16 @@ - + - + - + OMIM:301056 @@ -57643,16 +57619,16 @@ - + - + - + OMIM:301059 @@ -57661,16 +57637,16 @@ - + - + - + OMIM:301060 @@ -57679,16 +57655,16 @@ - + - + - + OMIM:619278 @@ -57697,16 +57673,16 @@ - + - + - + OMIM:619291 @@ -57715,16 +57691,16 @@ - + - + - + OMIM:619325 @@ -57733,16 +57709,16 @@ - + - + - + OMIM:619328 @@ -57751,16 +57727,16 @@ - + - + - + OMIM:619366 @@ -57769,16 +57745,16 @@ - + - + - + OMIM:300087 @@ -57787,16 +57763,16 @@ - + - + - + OMIM:301020 @@ -57805,16 +57781,16 @@ - + - + - + OMIM:301024 @@ -57823,16 +57799,16 @@ - + - + - + OMIM:301025 @@ -57841,16 +57817,16 @@ - + - + - + OMIM:301028 @@ -57859,16 +57835,16 @@ - + - + - + OMIM:301029 @@ -57877,16 +57853,16 @@ - + - + - + OMIM:301032 @@ -57895,16 +57871,16 @@ - + - + - + OMIM:301033 @@ -57913,16 +57889,16 @@ - + - + - + OMIM:301035 @@ -57931,16 +57907,16 @@ - + - + - + OMIM:301039 @@ -57949,16 +57925,16 @@ - + - + - + OMIM:400047 @@ -57967,16 +57943,16 @@ - + - + - + OMIM:610253 @@ -57985,16 +57961,16 @@ - + - + - + OMIM:617402 @@ -58003,16 +57979,16 @@ - + - + - + OMIM:143400 @@ -58021,16 +57997,16 @@ - + - + - + OMIM:618124 @@ -58039,16 +58015,16 @@ - + - + - + OMIM:618131 @@ -58057,16 +58033,16 @@ - + - + - + OMIM:618140 @@ -58075,16 +58051,16 @@ - + - + - + OMIM:618141 @@ -58093,16 +58069,16 @@ - + - + - + OMIM:618143 @@ -58111,16 +58087,16 @@ - + - + - + OMIM:618144 @@ -58129,16 +58105,16 @@ - + - + - + OMIM:618145 @@ -58147,16 +58123,16 @@ - + - + - + OMIM:618147 @@ -58165,16 +58141,16 @@ - + - + - + OMIM:618148 @@ -58183,16 +58159,16 @@ - + - + - + OMIM:618152 @@ -58201,16 +58177,16 @@ - + - + - + OMIM:618153 @@ -58219,16 +58195,16 @@ - + - + - + OMIM:618830 @@ -58237,16 +58213,16 @@ - + - + - + OMIM:618835 @@ -58255,16 +58231,16 @@ - + - + - + OMIM:618838 @@ -58273,16 +58249,16 @@ - + - + - + OMIM:618839 @@ -58291,16 +58267,16 @@ - + - + - + OMIM:618841 @@ -58309,16 +58285,16 @@ - + - + - + OMIM:618846 @@ -58327,16 +58303,16 @@ - + - + - + OMIM:618847 @@ -58345,16 +58321,16 @@ - + - + - + OMIM:618848 @@ -58363,16 +58339,16 @@ - + - + - + OMIM:618849 @@ -58381,16 +58357,16 @@ - + - + - + OMIM:618851 @@ -58399,16 +58375,16 @@ - + - + - + OMIM:618853 @@ -58417,16 +58393,16 @@ - + - + - + OMIM:618855 @@ -58435,16 +58411,16 @@ - + - + - + OMIM:618859 @@ -58453,16 +58429,16 @@ - + - + - + OMIM:618862 @@ -58471,16 +58447,16 @@ - + - + - + OMIM:618863 @@ -58489,16 +58465,16 @@ - + - + - + OMIM:618868 @@ -58507,16 +58483,16 @@ - + - + - + OMIM:618870 @@ -58525,16 +58501,16 @@ - + - + - + OMIM:618872 @@ -58543,16 +58519,16 @@ - + - + - + OMIM:618873 @@ -58561,16 +58537,16 @@ - + - + - + OMIM:618875 @@ -58579,16 +58555,16 @@ - + - + - + OMIM:618876 @@ -58597,16 +58573,16 @@ - + - + - + OMIM:618878 @@ -58615,16 +58591,16 @@ - + - + - + OMIM:618879 @@ -58633,16 +58609,16 @@ - + - + - + OMIM:618885 @@ -58651,16 +58627,16 @@ - + - + - + OMIM:618889 @@ -58669,16 +58645,16 @@ - + - + - + OMIM:618890 @@ -58687,16 +58663,16 @@ - + - + - + OMIM:618891 @@ -58705,16 +58681,16 @@ - + - + - + OMIM:618906 @@ -58723,16 +58699,16 @@ - + - + - + OMIM:618910 @@ -58741,16 +58717,16 @@ - + - + - + OMIM:618912 @@ -58759,16 +58735,16 @@ - + - + - + OMIM:618914 @@ -58777,16 +58753,16 @@ - + - + - + OMIM:618915 @@ -58795,16 +58771,16 @@ - + - + - + OMIM:618916 @@ -58813,16 +58789,16 @@ - + - + - + OMIM:618917 @@ -58831,16 +58807,16 @@ - + - + - + OMIM:618922 @@ -58849,16 +58825,16 @@ - + - + - + OMIM:618935 @@ -58867,16 +58843,16 @@ - + - + - + OMIM:618939 @@ -58885,16 +58861,16 @@ - + - + - + OMIM:618948 @@ -58903,16 +58879,16 @@ - + - + - + OMIM:618955 @@ -58921,16 +58897,16 @@ - + - + - + OMIM:618959 @@ -58939,16 +58915,16 @@ - + - + - + OMIM:618961 @@ -58957,16 +58933,16 @@ - + - + - + OMIM:618845 @@ -58975,16 +58951,16 @@ - + - + - + OMIM:618881 @@ -58993,16 +58969,16 @@ - + - + - + OMIM:618940 @@ -59011,16 +58987,16 @@ - + - + - + OMIM:619301 @@ -59029,16 +59005,16 @@ - + - + - + OMIM:619302 @@ -59047,16 +59023,16 @@ - + - + - + OMIM:619304 @@ -59065,16 +59041,16 @@ - + - + - + OMIM:619310 @@ -59083,16 +59059,16 @@ - + - + - + OMIM:619313 @@ -59101,16 +59077,16 @@ - + - + - + OMIM:619319 @@ -59119,16 +59095,16 @@ - + - + - + OMIM:619361 @@ -59137,16 +59113,16 @@ - + - + - + OMIM:619362 @@ -59155,16 +59131,16 @@ - + - + - + OMIM:619365 @@ -59173,16 +59149,16 @@ - + - + - + OMIM:619367 @@ -59191,16 +59167,16 @@ - + - + - + OMIM:619371 @@ -59209,16 +59185,16 @@ - + - + - + OMIM:619374 @@ -59227,16 +59203,16 @@ - + - + - + OMIM:619380 @@ -59245,16 +59221,16 @@ - + - + - + OMIM:619381 @@ -59263,16 +59239,16 @@ - + - + - + OMIM:619386 @@ -59281,16 +59257,16 @@ - + - + - + OMIM:619389 @@ -59299,16 +59275,16 @@ - + - + - + OMIM:619396 @@ -59317,16 +59293,16 @@ - + - + - + OMIM:619398 @@ -59335,16 +59311,16 @@ - + - + - + OMIM:619401 @@ -59353,16 +59329,16 @@ - + - + - + OMIM:619402 @@ -59371,16 +59347,16 @@ - + - + - + OMIM:619405 @@ -59389,16 +59365,16 @@ - + - + - + OMIM:619422 @@ -59407,16 +59383,16 @@ - + - + - + OMIM:619433 @@ -59425,16 +59401,16 @@ - + - + - + OMIM:619435 @@ -59443,16 +59419,16 @@ - + - + - + OMIM:619436 @@ -59461,16 +59437,16 @@ - + - + - + OMIM:619437 @@ -59479,16 +59455,16 @@ - + - + - + OMIM:619451 @@ -59497,16 +59473,16 @@ - + - + - + OMIM:619452 @@ -59515,16 +59491,16 @@ - + - + - + OMIM:619453 @@ -59533,16 +59509,16 @@ - + - + - + OMIM:619466 @@ -59551,16 +59527,16 @@ - + - + - + OMIM:619477 @@ -59569,16 +59545,16 @@ - + - + - + OMIM:619484 @@ -59587,16 +59563,16 @@ - + - + - + OMIM:619486 @@ -59605,16 +59581,16 @@ - + - + - + OMIM:619487 @@ -59623,16 +59599,16 @@ - + - + - + OMIM:619407 @@ -59641,16 +59617,16 @@ - + - + - + OMIM:619423 @@ -59659,16 +59635,16 @@ - + - + - + OMIM:619463 @@ -59677,16 +59653,16 @@ - + - + - + OMIM:619493 @@ -59695,16 +59671,16 @@ - + - + - + OMIM:619510 @@ -59713,16 +59689,16 @@ - + - + - + OMIM:619515 @@ -59731,16 +59707,16 @@ - + - + - + OMIM:619519 @@ -59749,16 +59725,16 @@ - + - + - + OMIM:619523 @@ -59767,16 +59743,16 @@ - + - + - + OMIM:619528 @@ -59785,16 +59761,16 @@ - + - + - + OMIM:619531 @@ -59803,16 +59779,16 @@ - + - + - + OMIM:619549 @@ -59821,16 +59797,16 @@ - + - + - + OMIM:619561 @@ -59839,16 +59815,16 @@ - + - + - + OMIM:619562 @@ -59857,16 +59833,16 @@ - + - + - + OMIM:619565 @@ -59875,16 +59851,16 @@ - + - + - + OMIM:619566 @@ -59893,16 +59869,16 @@ - + - + - + OMIM:619573 @@ -59911,16 +59887,16 @@ - + - + - + OMIM:619593 @@ -59929,16 +59905,16 @@ - + - + - + OMIM:619603 @@ -59947,16 +59923,16 @@ - + - + - + OMIM:619607 @@ -59965,16 +59941,16 @@ - + - + - + OMIM:619608 @@ -59983,16 +59959,16 @@ - + - + - + OMIM:619609 @@ -60001,16 +59977,16 @@ - + - + - + OMIM:619632 @@ -60019,16 +59995,16 @@ - + - + - + OMIM:619643 @@ -60037,16 +60013,16 @@ - + - + - + OMIM:619644 @@ -60055,16 +60031,16 @@ - + - + - + OMIM:619645 @@ -60073,16 +60049,16 @@ - + - + - + OMIM:619646 @@ -60091,16 +60067,16 @@ - + - + - + OMIM:619652 @@ -60109,16 +60085,16 @@ - + - + - + OMIM:619658 @@ -60127,16 +60103,16 @@ - + - + - + OMIM:619662 @@ -60145,16 +60121,16 @@ - + - + - + OMIM:619665 @@ -60163,16 +60139,16 @@ - + - + - + OMIM:619688 @@ -60181,16 +60157,16 @@ - + - + - + OMIM:619689 @@ -60199,16 +60175,16 @@ - + - + - + OMIM:619693 @@ -60217,16 +60193,16 @@ - + - + - + OMIM:619698 @@ -60235,16 +60211,16 @@ - + - + - + OMIM:619705 @@ -60253,16 +60229,16 @@ - + - + - + OMIM:619707 @@ -60271,16 +60247,16 @@ - + - + - + OMIM:619712 @@ -60289,16 +60265,16 @@ - + - + - + OMIM:619717 @@ -60307,16 +60283,16 @@ - + - + - + OMIM:619482 @@ -60325,16 +60301,16 @@ - + - + - + OMIM:619483 @@ -60343,16 +60319,16 @@ - + - + - + OMIM:619737 @@ -60361,16 +60337,16 @@ - + - + - + OMIM:619720 @@ -60379,16 +60355,16 @@ - + - + - + OMIM:619721 @@ -60397,16 +60373,16 @@ - + - + - + OMIM:619611 @@ -60415,16 +60391,16 @@ - + - + - + OMIM:619614 @@ -60433,16 +60409,16 @@ - + - + - + OMIM:619735 @@ -60451,16 +60427,16 @@ - + - + - + OMIM:619745 @@ -60469,16 +60445,16 @@ - + - + - + OMIM:619747 @@ -60487,16 +60463,16 @@ - + - + - + OMIM:619755 @@ -60505,16 +60481,16 @@ - + - + - + OMIM:619767 @@ -60523,16 +60499,16 @@ - + - + - + OMIM:619774 @@ -60541,16 +60517,16 @@ - + - + - + OMIM:619777 @@ -60559,16 +60535,16 @@ - + - + - + OMIM:619780 @@ -60577,16 +60553,16 @@ - + - + - + OMIM:619781 @@ -60595,16 +60571,16 @@ - + - + - + OMIM:619789 @@ -60613,16 +60589,16 @@ - + - + - + OMIM:619790 @@ -60631,16 +60607,16 @@ - + - + - + OMIM:619795 @@ -60649,16 +60625,16 @@ - + - + - + OMIM:619799 @@ -60667,16 +60643,16 @@ - + - + - + OMIM:619802 @@ -60685,16 +60661,16 @@ - + - + - + OMIM:619803 @@ -60703,16 +60679,16 @@ - + - + - + OMIM:619805 @@ -60721,16 +60697,16 @@ - + - + - + OMIM:619758 @@ -60739,16 +60715,16 @@ - + - + - + OMIM:619759 @@ -60757,16 +60733,16 @@ - + - + - + OMIM:619825 @@ -60775,16 +60751,16 @@ - + - + - + OMIM:619826 @@ -60793,16 +60769,16 @@ - + - + - + OMIM:619828 @@ -60811,16 +60787,16 @@ - + - + - + OMIM:619775 @@ -60829,16 +60805,16 @@ - + - + - + OMIM:619827 @@ -60847,16 +60823,16 @@ - + - + - + OMIM:619846 @@ -60865,16 +60841,16 @@ - + - + - + OMIM:619849 @@ -60883,16 +60859,16 @@ - + - + - + OMIM:619872 @@ -60901,16 +60877,16 @@ - + - + - + OMIM:619878 @@ -60919,16 +60895,16 @@ - + - + - + OMIM:619879 @@ -60937,16 +60913,16 @@ - + - + - + OMIM:619887 @@ -60955,16 +60931,16 @@ - + - + - + OMIM:619840 @@ -60973,16 +60949,16 @@ - + - + - + OMIM:619855 @@ -60991,16 +60967,16 @@ - + - + - + OMIM:619108 @@ -61009,16 +60985,16 @@ - + - + - + OMIM:619110 @@ -61027,16 +61003,16 @@ - + - + - + OMIM:619099 @@ -61045,16 +61021,16 @@ - + - + - + OMIM:619103 @@ -61063,16 +61039,16 @@ - + - + - + OMIM:619124 @@ -61081,16 +61057,16 @@ - + - + - + OMIM:619131 @@ -61099,16 +61075,16 @@ - + - + - + OMIM:619135 @@ -61117,16 +61093,16 @@ - + - + - + OMIM:619121 @@ -61135,16 +61111,16 @@ - + - + - + OMIM:619130 @@ -61153,16 +61129,16 @@ - + - + - + OMIM:619144 @@ -61171,16 +61147,16 @@ - + - + - + OMIM:619122 @@ -61189,16 +61165,16 @@ - + - + - + OMIM:619123 @@ -61207,16 +61183,16 @@ - + - + - + OMIM:619141 @@ -61225,16 +61201,16 @@ - + - + - + OMIM:619143 @@ -61243,16 +61219,16 @@ - + - + - + OMIM:619125 @@ -61261,16 +61237,16 @@ - + - + - + OMIM:619127 @@ -61279,16 +61255,16 @@ - + - + - + OMIM:619881 @@ -61297,16 +61273,16 @@ - + - + - + OMIM:619895 @@ -61315,16 +61291,16 @@ - + - + - + OMIM:619897 @@ -61333,16 +61309,16 @@ - + - + - + OMIM:619910 @@ -61351,16 +61327,16 @@ - + - + - + OMIM:619151 @@ -61369,16 +61345,16 @@ - + - + - + OMIM:619155 @@ -61387,16 +61363,16 @@ - + - + - + OMIM:619149 @@ -61405,16 +61381,16 @@ - + - + - + OMIM:619164 @@ -61423,16 +61399,16 @@ - + - + - + OMIM:619165 @@ -61441,16 +61417,16 @@ - + - + - + OMIM:619150 @@ -61459,16 +61435,16 @@ - + - + - + OMIM:619170 @@ -61477,16 +61453,16 @@ - + - + - + OMIM:619172 @@ -61495,16 +61471,16 @@ - + - + - + OMIM:619174 @@ -61513,16 +61489,16 @@ - + - + - + OMIM:300997 @@ -61531,16 +61507,16 @@ - + - + - + OMIM:301008 @@ -61549,16 +61525,16 @@ - + - + - + OMIM:617600 @@ -61567,16 +61543,16 @@ - + - + - + OMIM:617601 @@ -61585,16 +61561,16 @@ - + - + - + OMIM:617635 @@ -61603,16 +61579,16 @@ - + - + - + OMIM:617751 @@ -61621,16 +61597,16 @@ - + - + - + OMIM:617752 @@ -61639,16 +61615,16 @@ - + - + - + OMIM:617773 @@ -61657,16 +61633,16 @@ - + - + - + OMIM:617787 @@ -61675,16 +61651,16 @@ - + - + - + OMIM:617788 @@ -61693,16 +61669,16 @@ - + - + - + OMIM:617796 @@ -61711,16 +61687,16 @@ - + - + - + OMIM:617799 @@ -61729,16 +61705,16 @@ - + - + - + OMIM:617854 @@ -61747,16 +61723,16 @@ - + - + - + OMIM:619176 @@ -61765,16 +61741,16 @@ - + - + - + OMIM:619177 @@ -61783,16 +61759,16 @@ - + - + - + OMIM:619157 @@ -61801,16 +61777,16 @@ - + - + - + OMIM:619183 @@ -61819,16 +61795,16 @@ - + - + - + OMIM:619185 @@ -61837,16 +61813,16 @@ - + - + - + OMIM:619188 @@ -61855,16 +61831,16 @@ - + - + - + OMIM:619166 @@ -61873,16 +61849,16 @@ - + - + - + OMIM:619191 @@ -61891,16 +61867,16 @@ - + - + - + OMIM:619173 @@ -61909,16 +61885,16 @@ - + - + - + OMIM:619184 @@ -61927,16 +61903,16 @@ - + - + - + OMIM:619913 @@ -61945,16 +61921,16 @@ - + - + - + OMIM:619201 @@ -61963,16 +61939,16 @@ - + - + - + OMIM:619189 @@ -61981,16 +61957,16 @@ - + - + - + OMIM:619194 @@ -61999,16 +61975,16 @@ - + - + - + OMIM:619935 @@ -62017,16 +61993,16 @@ - + - + - + OMIM:619220 @@ -62035,16 +62011,16 @@ - + - + - + OMIM:619223 @@ -62053,16 +62029,16 @@ - + - + - + OMIM:619215 @@ -62071,16 +62047,16 @@ - + - + - + OMIM:619216 @@ -62089,16 +62065,16 @@ - + - + - + OMIM:619218 @@ -62107,16 +62083,16 @@ - + - + - + OMIM:619221 @@ -62125,16 +62101,16 @@ - + - + - + OMIM:619949 @@ -62143,16 +62119,16 @@ - + - + - + OMIM:619245 @@ -62161,16 +62137,16 @@ - + - + - + OMIM:619226 @@ -62179,16 +62155,16 @@ - + - + - + OMIM:619227 @@ -62197,16 +62173,16 @@ - + - + - + OMIM:619258 @@ -62215,16 +62191,16 @@ - + - + - + OMIM:619232 @@ -62233,16 +62209,16 @@ - + - + - + OMIM:619234 @@ -62251,16 +62227,16 @@ - + - + - + OMIM:619950 @@ -62269,16 +62245,16 @@ - + - + - + OMIM:619243 @@ -62287,16 +62263,16 @@ - + - + - + OMIM:619272 @@ -62305,16 +62281,16 @@ - + - + - + OMIM:619244 @@ -62323,16 +62299,16 @@ - + - + - + OMIM:619951 @@ -62341,16 +62317,16 @@ - + - + - + OMIM:619255 @@ -62359,16 +62335,16 @@ - + - + - + OMIM:619256 @@ -62377,16 +62353,16 @@ - + - + - + OMIM:619263 @@ -62395,16 +62371,16 @@ - + - + - + OMIM:619269 @@ -62413,16 +62389,16 @@ - + - + - + OMIM:619264 @@ -62431,16 +62407,16 @@ - + - + - + OMIM:619966 @@ -62449,16 +62425,16 @@ - + - + - + OMIM:619983 @@ -62467,16 +62443,16 @@ - + - + - + OMIM:620014 @@ -62485,16 +62461,16 @@ - + - + - + OMIM:620015 @@ -62503,16 +62479,16 @@ - + - + - + OMIM:620032 @@ -62521,16 +62497,16 @@ - + - + - + OMIM:620033 @@ -62539,16 +62515,16 @@ - + - + - + OMIM:620040 @@ -62557,16 +62533,16 @@ - + - + - + OMIM:620047 @@ -62575,16 +62551,16 @@ - + - + - + OMIM:620056 @@ -62593,16 +62569,16 @@ - + - + - + OMIM:620072 @@ -62611,16 +62587,16 @@ - + - + - + OMIM:620084 @@ -62629,16 +62605,16 @@ - + - + - + OMIM:620103 @@ -62647,16 +62623,16 @@ - + - + - + OMIM:620104 @@ -62665,16 +62641,16 @@ - + - + - + OMIM:614231 @@ -62683,16 +62659,16 @@ - + - + - + OMIM:618009 @@ -62701,16 +62677,16 @@ - + - + - + OMIM:618154 @@ -62719,16 +62695,16 @@ - + - + - + OMIM:618155 @@ -62737,16 +62713,16 @@ - + - + - + OMIM:618156 @@ -62755,16 +62731,16 @@ - + - + - + OMIM:618157 @@ -62773,16 +62749,16 @@ - + - + - + OMIM:618158 @@ -62791,16 +62767,16 @@ - + - + - + OMIM:618160 @@ -62809,16 +62785,16 @@ - + - + - + OMIM:618162 @@ -62827,16 +62803,16 @@ - + - + - + OMIM:618164 @@ -62845,16 +62821,16 @@ - + - + - + OMIM:618167 @@ -62863,16 +62839,16 @@ - + - + - + OMIM:618168 @@ -62881,16 +62857,16 @@ - + - + - + OMIM:618174 @@ -62899,16 +62875,16 @@ - + - + - + OMIM:618176 @@ -62917,16 +62893,16 @@ - + - + - + OMIM:618178 @@ -62935,16 +62911,16 @@ - + - + - + OMIM:618179 @@ -62953,16 +62929,16 @@ - + - + - + OMIM:618183 @@ -62971,16 +62947,16 @@ - + - + - + OMIM:618185 @@ -62989,16 +62965,16 @@ - + - + - + OMIM:618187 @@ -63007,16 +62983,16 @@ - + - + - + OMIM:618188 @@ -63025,16 +63001,16 @@ - + - + - + OMIM:618189 @@ -63043,16 +63019,16 @@ - + - + - + OMIM:618195 @@ -63061,16 +63037,16 @@ - + - + - + OMIM:618198 @@ -63079,16 +63055,16 @@ - + - + - + OMIM:618201 @@ -63097,16 +63073,16 @@ - + - + - + OMIM:618205 @@ -63115,16 +63091,16 @@ - + - + - + OMIM:618219 @@ -63133,16 +63109,16 @@ - + - + - + OMIM:618220 @@ -63151,16 +63127,16 @@ - + - + - + OMIM:618222 @@ -63169,16 +63145,16 @@ - + - + - + OMIM:618223 @@ -63187,16 +63163,16 @@ - + - + - + OMIM:618224 @@ -63205,16 +63181,16 @@ - + - + - + OMIM:618225 @@ -63223,16 +63199,16 @@ - + - + - + OMIM:618226 @@ -63241,16 +63217,16 @@ - + - + - + OMIM:618229 @@ -63259,16 +63235,16 @@ - + - + - + OMIM:618230 @@ -63277,16 +63253,16 @@ - + - + - + OMIM:618231 @@ -63295,16 +63271,16 @@ - + - + - + OMIM:618232 @@ -63313,16 +63289,16 @@ - + - + - + OMIM:618233 @@ -63331,16 +63307,16 @@ - + - + - + OMIM:618234 @@ -63349,16 +63325,16 @@ - + - + - + OMIM:618235 @@ -63367,16 +63343,16 @@ - + - + - + OMIM:618236 @@ -63385,16 +63361,16 @@ - + - + - + OMIM:618237 @@ -63403,16 +63379,16 @@ - + - + - + OMIM:618238 @@ -63421,16 +63397,16 @@ - + - + - + OMIM:618240 @@ -63439,16 +63415,16 @@ - + - + - + OMIM:618241 @@ -63457,16 +63433,16 @@ - + - + - + OMIM:618242 @@ -63475,16 +63451,16 @@ - + - + - + OMIM:618243 @@ -63493,16 +63469,16 @@ - + - + - + OMIM:618244 @@ -63511,16 +63487,16 @@ - + - + - + OMIM:618245 @@ -63529,16 +63505,16 @@ - + - + - + OMIM:618246 @@ -63547,16 +63523,16 @@ - + - + - + OMIM:618247 @@ -63565,16 +63541,16 @@ - + - + - + OMIM:618250 @@ -63583,16 +63559,16 @@ - + - + - + OMIM:618251 @@ -63601,16 +63577,16 @@ - + - + - + OMIM:618252 @@ -63619,16 +63595,16 @@ - + - + - + OMIM:618253 @@ -63637,16 +63613,16 @@ - + - + - + OMIM:618254 @@ -63655,16 +63631,16 @@ - + - + - + OMIM:618257 @@ -63673,16 +63649,16 @@ - + - + - + OMIM:618264 @@ -63691,16 +63667,16 @@ - + - + - + OMIM:618267 @@ -63709,16 +63685,16 @@ - + - + - + OMIM:618268 @@ -63727,16 +63703,16 @@ - + - + - + OMIM:618270 @@ -63745,16 +63721,16 @@ - + - + - + OMIM:618273 @@ -63763,16 +63739,16 @@ - + - + - + OMIM:618276 @@ -63781,16 +63757,16 @@ - + - + - + OMIM:618278 @@ -63799,16 +63775,16 @@ - + - + - + OMIM:618282 @@ -63817,16 +63793,16 @@ - + - + - + OMIM:618283 @@ -63835,16 +63811,16 @@ - + - + - + OMIM:618284 @@ -63853,16 +63829,16 @@ - + - + - + OMIM:618285 @@ -63871,16 +63847,16 @@ - + - + - + OMIM:618286 @@ -63889,16 +63865,16 @@ - + - + - + OMIM:618287 @@ -63907,16 +63883,16 @@ - + - + - + OMIM:618292 @@ -63925,16 +63901,16 @@ - + - + - + OMIM:618295 @@ -63943,16 +63919,16 @@ - + - + - + OMIM:618298 @@ -63961,16 +63937,16 @@ - + - + - + OMIM:618300 @@ -63979,16 +63955,16 @@ - + - + - + OMIM:618302 @@ -63997,16 +63973,16 @@ - + - + - + OMIM:618307 @@ -64015,16 +63991,16 @@ - + - + - + OMIM:618309 @@ -64033,16 +64009,16 @@ - + - + - + OMIM:618310 @@ -64051,16 +64027,16 @@ - + - + - + OMIM:618312 @@ -64069,16 +64045,16 @@ - + - + - + OMIM:618313 @@ -64087,16 +64063,16 @@ - + - + - + OMIM:618316 @@ -64105,16 +64081,16 @@ - + - + - + OMIM:618317 @@ -64123,16 +64099,16 @@ - + - + - + OMIM:618325 @@ -64141,16 +64117,16 @@ - + - + - + OMIM:618329 @@ -64159,16 +64135,16 @@ - + - + - + OMIM:618330 @@ -64177,16 +64153,16 @@ - + - + - + OMIM:618331 @@ -64195,16 +64171,16 @@ - + - + - + OMIM:618341 @@ -64213,16 +64189,16 @@ - + - + - + OMIM:618342 @@ -64231,16 +64207,16 @@ - + - + - + OMIM:618345 @@ -64249,16 +64225,16 @@ - + - + - + OMIM:618351 @@ -64267,16 +64243,16 @@ - + - + - + OMIM:618353 @@ -64285,16 +64261,16 @@ - + - + - + OMIM:618354 @@ -64303,16 +64279,16 @@ - + - + - + OMIM:618356 @@ -64321,16 +64297,16 @@ - + - + - + OMIM:618357 @@ -64339,16 +64315,16 @@ - + - + - + OMIM:618362 @@ -64357,16 +64333,16 @@ - + - + - + OMIM:618363 @@ -64375,16 +64351,16 @@ - + - + - + OMIM:618367 @@ -64393,16 +64369,16 @@ - + - + - + OMIM:618369 @@ -64411,16 +64387,16 @@ - + - + - + OMIM:618371 @@ -64429,16 +64405,16 @@ - + - + - + OMIM:618374 @@ -64447,16 +64423,16 @@ - + - + - + OMIM:618378 @@ -64465,16 +64441,16 @@ - + - + - + OMIM:618381 @@ -64483,16 +64459,16 @@ - + - + - + OMIM:618383 @@ -64501,16 +64477,16 @@ - + - + - + OMIM:618384 @@ -64519,16 +64495,16 @@ - + - + - + OMIM:618386 @@ -64537,16 +64513,16 @@ - + - + - + OMIM:618392 @@ -64555,16 +64531,16 @@ - + - + - + OMIM:618394 @@ -64573,16 +64549,16 @@ - + - + - + OMIM:618395 @@ -64591,16 +64567,16 @@ - + - + - + OMIM:618397 @@ -64609,16 +64585,16 @@ - + - + - + OMIM:618402 @@ -64627,16 +64603,16 @@ - + - + - + OMIM:618404 @@ -64645,16 +64621,16 @@ - + - + - + OMIM:618415 @@ -64663,16 +64639,16 @@ - + - + - + OMIM:618416 @@ -64681,16 +64657,16 @@ - + - + - + OMIM:618418 @@ -64699,16 +64675,16 @@ - + - + - + OMIM:618422 @@ -64717,16 +64693,16 @@ - + - + - + OMIM:618425 @@ -64735,16 +64711,16 @@ - + - + - + OMIM:618429 @@ -64753,16 +64729,16 @@ - + - + - + OMIM:618430 @@ -64771,16 +64747,16 @@ - + - + - + OMIM:618431 @@ -64789,16 +64765,16 @@ - + - + - + OMIM:618433 @@ -64807,16 +64783,16 @@ - + - + - + OMIM:618435 @@ -64825,16 +64801,16 @@ - + - + - + OMIM:618437 @@ -64843,16 +64819,16 @@ - + - + - + OMIM:618438 @@ -64861,16 +64837,16 @@ - + - + - + OMIM:618443 @@ -64879,16 +64855,16 @@ - + - + - + OMIM:618449 @@ -64897,16 +64873,16 @@ - + - + - + OMIM:618451 @@ -64915,16 +64891,16 @@ - + - + - + OMIM:618453 @@ -64933,16 +64909,16 @@ - + - + - + OMIM:618456 @@ -64951,16 +64927,16 @@ - + - + - + OMIM:618457 @@ -64969,16 +64945,16 @@ - + - + - + OMIM:618459 @@ -64987,16 +64963,16 @@ - + - + - + OMIM:618460 @@ -65005,16 +64981,16 @@ - + - + - + OMIM:618464 @@ -65023,16 +64999,16 @@ - + - + - + OMIM:618475 @@ -65041,16 +65017,16 @@ - + - + - + OMIM:618477 @@ -65059,16 +65035,16 @@ - + - + - + OMIM:618479 @@ -65077,16 +65053,16 @@ - + - + - + OMIM:618480 @@ -65095,16 +65071,16 @@ - + - + - + OMIM:618481 @@ -65113,16 +65089,16 @@ - + - + - + OMIM:618492 @@ -65131,16 +65107,16 @@ - + - + - + OMIM:618493 @@ -65149,16 +65125,16 @@ - + - + - + OMIM:618495 @@ -65167,16 +65143,16 @@ - + - + - + OMIM:618496 @@ -65185,16 +65161,16 @@ - + - + - + OMIM:618497 @@ -65203,16 +65179,16 @@ - + - + - + OMIM:618498 @@ -65221,16 +65197,16 @@ - + - + - + OMIM:618499 @@ -65239,16 +65215,16 @@ - + - + - + OMIM:618501 @@ -65257,16 +65233,16 @@ - + - + - + OMIM:618504 @@ -65275,16 +65251,16 @@ - + - + - + OMIM:618505 @@ -65293,16 +65269,16 @@ - + - + - + OMIM:618506 @@ -65311,16 +65287,16 @@ - + - + - + OMIM:618511 @@ -65329,16 +65305,16 @@ - + - + - + OMIM:618512 @@ -65347,16 +65323,16 @@ - + - + - + OMIM:618513 @@ -65365,16 +65341,16 @@ - + - + - + OMIM:618522 @@ -65383,16 +65359,16 @@ - + - + - + OMIM:618527 @@ -65401,16 +65377,16 @@ - + - + - + OMIM:618529 @@ -65419,16 +65395,16 @@ - + - + - + OMIM:618534 @@ -65437,16 +65413,16 @@ - + - + - + OMIM:618535 @@ -65455,16 +65431,16 @@ - + - + - + OMIM:618546 @@ -65473,16 +65449,16 @@ - + - + - + OMIM:618548 @@ -65491,16 +65467,16 @@ - + - + - + OMIM:618549 @@ -65509,16 +65485,16 @@ - + - + - + OMIM:618550 @@ -65527,16 +65503,16 @@ - + - + - + OMIM:618559 @@ -65545,16 +65521,16 @@ - + - + - + OMIM:618567 @@ -65563,16 +65539,16 @@ - + - + - + OMIM:618569 @@ -65581,16 +65557,16 @@ - + - + - + OMIM:618571 @@ -65599,16 +65575,16 @@ - + - + - + OMIM:618572 @@ -65617,16 +65593,16 @@ - + - + - + OMIM:618573 @@ -65635,16 +65611,16 @@ - + - + - + OMIM:618577 @@ -65653,16 +65629,16 @@ - + - + - + OMIM:618580 @@ -65671,16 +65647,16 @@ - + - + - + OMIM:618587 @@ -65689,16 +65665,16 @@ - + - + - + OMIM:618590 @@ -65707,16 +65683,16 @@ - + - + - + OMIM:618594 @@ -65725,16 +65701,16 @@ - + - + - + OMIM:618603 @@ -65743,16 +65719,16 @@ - + - + - + OMIM:618604 @@ -65761,16 +65737,16 @@ - + - + - + OMIM:618606 @@ -65779,16 +65755,16 @@ - + - + - + OMIM:618608 @@ -65797,16 +65773,16 @@ - + - + - + OMIM:618612 @@ -65815,16 +65791,16 @@ - + - + - + OMIM:618613 @@ -65833,16 +65809,16 @@ - + - + - + OMIM:618618 @@ -65851,16 +65827,16 @@ - + - + - + OMIM:618619 @@ -65869,16 +65845,16 @@ - + - + - + OMIM:618620 @@ -65887,16 +65863,16 @@ - + - + - + OMIM:618622 @@ -65905,16 +65881,16 @@ - + - + - + OMIM:618635 @@ -65923,16 +65899,16 @@ - + - + - + OMIM:618637 @@ -65941,16 +65917,16 @@ - + - + - + OMIM:618641 @@ -65959,16 +65935,16 @@ - + - + - + OMIM:618643 @@ -65977,16 +65953,16 @@ - + - + - + OMIM:618644 @@ -65995,16 +65971,16 @@ - + - + - + OMIM:618648 @@ -66013,16 +65989,16 @@ - + - + - + OMIM:618651 @@ -66031,16 +66007,16 @@ - + - + - + OMIM:618652 @@ -66049,16 +66025,16 @@ - + - + - + OMIM:618653 @@ -66067,16 +66043,16 @@ - + - + - + OMIM:618658 @@ -66085,16 +66061,16 @@ - + - + - + OMIM:618659 @@ -66103,16 +66079,16 @@ - + - + - + OMIM:618662 @@ -66121,16 +66097,16 @@ - + - + - + OMIM:618664 @@ -66139,16 +66115,16 @@ - + - + - + OMIM:618665 @@ -66157,16 +66133,16 @@ - + - + - + OMIM:618667 @@ -66175,16 +66151,16 @@ - + - + - + OMIM:618670 @@ -66193,16 +66169,16 @@ - + - + - + OMIM:618672 @@ -66211,16 +66187,16 @@ - + - + - + OMIM:618674 @@ -66229,16 +66205,16 @@ - + - + - + OMIM:618680 @@ -66247,16 +66223,16 @@ - + - + - + OMIM:618683 @@ -66265,16 +66241,16 @@ - + - + - + OMIM:618687 @@ -66283,16 +66259,16 @@ - + - + - + OMIM:618688 @@ -66301,16 +66277,16 @@ - + - + - + OMIM:618695 @@ -66319,16 +66295,16 @@ - + - + - + OMIM:618699 @@ -66337,16 +66313,16 @@ - + - + - + OMIM:618702 @@ -66355,16 +66331,16 @@ - + - + - + OMIM:618707 @@ -66373,16 +66349,16 @@ - + - + - + OMIM:618709 @@ -66391,16 +66367,16 @@ - + - + - + OMIM:618718 @@ -66409,16 +66385,16 @@ - + - + - + OMIM:618719 @@ -66427,16 +66403,16 @@ - + - + - + OMIM:618721 @@ -66445,16 +66421,16 @@ - + - + - + OMIM:618723 @@ -66463,16 +66439,16 @@ - + - + - + OMIM:618725 @@ -66481,16 +66457,16 @@ - + - + - + OMIM:618727 @@ -66499,16 +66475,16 @@ - + - + - + OMIM:618728 @@ -66517,16 +66493,16 @@ - + - + - + OMIM:618730 @@ -66535,16 +66511,16 @@ - + - + - + OMIM:618732 @@ -66553,16 +66529,16 @@ - + - + - + OMIM:618733 @@ -66571,16 +66547,16 @@ - + - + - + OMIM:618737 @@ -66589,16 +66565,16 @@ - + - + - + OMIM:618741 @@ -66607,16 +66583,16 @@ - + - + - + OMIM:618744 @@ -66625,16 +66601,16 @@ - + - + - + OMIM:618745 @@ -66643,16 +66619,16 @@ - + - + - + OMIM:618748 @@ -66661,16 +66637,16 @@ - + - + - + OMIM:618751 @@ -66679,16 +66655,16 @@ - + - + - + OMIM:618752 @@ -66697,16 +66673,16 @@ - + - + - + OMIM:618760 @@ -66715,16 +66691,16 @@ - + - + - + OMIM:618761 @@ -66733,16 +66709,16 @@ - + - + - + OMIM:618763 @@ -66751,16 +66727,16 @@ - + - + - + OMIM:618766 @@ -66769,16 +66745,16 @@ - + - + - + OMIM:618767 @@ -66787,16 +66763,16 @@ - + - + - + OMIM:618768 @@ -66805,16 +66781,16 @@ - + - + - + OMIM:618770 @@ -66823,16 +66799,16 @@ - + - + - + OMIM:618773 @@ -66841,16 +66817,16 @@ - + - + - + OMIM:618775 @@ -66859,16 +66835,16 @@ - + - + - + OMIM:618776 @@ -66877,16 +66853,16 @@ - + - + - + OMIM:618779 @@ -66895,16 +66871,16 @@ - + - + - + OMIM:618781 @@ -66913,16 +66889,16 @@ - + - + - + OMIM:618786 @@ -66931,16 +66907,16 @@ - + - + - + OMIM:618787 @@ -66949,16 +66925,16 @@ - + - + - + OMIM:618792 @@ -66967,16 +66943,16 @@ - + - + - + OMIM:618793 @@ -66985,16 +66961,16 @@ - + - + - + OMIM:618795 @@ -67003,16 +66979,16 @@ - + - + - + OMIM:618797 @@ -67021,16 +66997,16 @@ - + - + - + OMIM:618798 @@ -67039,16 +67015,16 @@ - + - + - + OMIM:618800 @@ -67057,16 +67033,16 @@ - + - + - + OMIM:618801 @@ -67075,16 +67051,16 @@ - + - + - + OMIM:618804 @@ -67093,16 +67069,16 @@ - + - + - + OMIM:618805 @@ -67111,16 +67087,16 @@ - + - + - + OMIM:618808 @@ -67129,16 +67105,16 @@ - + - + - + OMIM:618811 @@ -67147,16 +67123,16 @@ - + - + - + OMIM:618820 @@ -67165,16 +67141,16 @@ - + - + - + OMIM:618821 @@ -67183,16 +67159,16 @@ - + - + - + OMIM:618824 @@ -67201,16 +67177,16 @@ - + - + - + OMIM:618827 @@ -67219,16 +67195,16 @@ - + - + - + OMIM:263200 @@ -67237,16 +67213,16 @@ - + - + - + OMIM:251300 @@ -67255,16 +67231,16 @@ - + - + - + OMIM:301006 @@ -67273,16 +67249,16 @@ - + - + - + OMIM:617729 @@ -67291,16 +67267,16 @@ - + - + - + OMIM:617730 @@ -67309,16 +67285,16 @@ - + - + - + OMIM:617731 @@ -67327,16 +67303,16 @@ - + - + - + OMIM:617524 @@ -67345,16 +67321,16 @@ - + - + - + OMIM:617526 @@ -67363,16 +67339,16 @@ - + - + - + OMIM:617560 @@ -67381,16 +67357,16 @@ - + - + - + OMIM:617564 @@ -67399,16 +67375,16 @@ - + - + - + OMIM:617565 @@ -67417,16 +67393,16 @@ - + - + - + OMIM:617571 @@ -67435,16 +67411,16 @@ - + - + - + OMIM:617574 @@ -67453,16 +67429,16 @@ - + - + - + OMIM:617584 @@ -67471,16 +67447,16 @@ - + - + - + OMIM:617633 @@ -67489,16 +67465,16 @@ - + - + - + OMIM:618279 @@ -67507,16 +67483,16 @@ - + - + - + OMIM:617637 @@ -67525,16 +67501,16 @@ - + - + - + OMIM:617639 @@ -67543,16 +67519,16 @@ - + - + - + OMIM:617654 @@ -67561,16 +67537,16 @@ - + - + - + OMIM:618013 @@ -67579,16 +67555,16 @@ - + - + - + OMIM:617575 @@ -67597,16 +67573,16 @@ - + - + - + OMIM:617606 @@ -67615,16 +67591,16 @@ - + - + - + OMIM:617609 @@ -67633,16 +67609,16 @@ - + - + - + OMIM:617610 @@ -67651,16 +67627,16 @@ - + - + - + OMIM:617613 @@ -67669,16 +67645,16 @@ - + - + - + OMIM:617622 @@ -67687,16 +67663,16 @@ - + - + - + OMIM:617767 @@ -67705,16 +67681,16 @@ - + - + - + OMIM:617629 @@ -67723,16 +67699,16 @@ - + - + - + OMIM:617391 @@ -67741,16 +67717,16 @@ - + - + - + OMIM:617599 @@ -67759,16 +67735,16 @@ - + - + - + OMIM:617665 @@ -67777,16 +67753,16 @@ - + - + - + OMIM:617771 @@ -67795,16 +67771,16 @@ - + - + - + OMIM:617929 @@ -67813,16 +67789,16 @@ - + - + - + OMIM:617933 @@ -67831,16 +67807,16 @@ - + - + - + OMIM:617976 @@ -67849,16 +67825,16 @@ - + - + - + OMIM:618004 @@ -67867,16 +67843,16 @@ - + - + - + OMIM:618008 @@ -67885,16 +67861,16 @@ - + - + - + OMIM:617769 @@ -67903,16 +67879,16 @@ - + - + - + OMIM:617770 @@ -67921,16 +67897,16 @@ - + - + - + OMIM:617895 @@ -67939,16 +67915,16 @@ - + - + - + OMIM:617899 @@ -67957,16 +67933,16 @@ - + - + - + OMIM:617808 @@ -67975,16 +67951,16 @@ - + - + - + OMIM:618950 @@ -67993,16 +67969,16 @@ - + - + - + OMIM:618951 @@ -68011,16 +67987,16 @@ - + - + - + OMIM:618952 @@ -68029,16 +68005,16 @@ - + - + - + OMIM:618958 @@ -68047,16 +68023,16 @@ - + - + - + OMIM:618969 @@ -68065,16 +68041,16 @@ - + - + - + OMIM:618970 @@ -68083,16 +68059,16 @@ - + - + - + OMIM:618971 @@ -68101,16 +68077,16 @@ - + - + - + OMIM:618972 @@ -68119,16 +68095,16 @@ - + - + - + OMIM:618974 @@ -68137,16 +68113,16 @@ - + - + - + OMIM:618975 @@ -68155,16 +68131,16 @@ - + - + - + OMIM:618982 @@ -68173,16 +68149,16 @@ - + - + - + OMIM:618983 @@ -68191,16 +68167,16 @@ - + - + - + OMIM:618998 @@ -68209,16 +68185,16 @@ - + - + - + OMIM:618999 @@ -68227,16 +68203,16 @@ - + - + - + OMIM:619000 @@ -68245,16 +68221,16 @@ - + - + - + OMIM:619003 @@ -68263,16 +68239,16 @@ - + - + - + OMIM:619007 @@ -68281,16 +68257,16 @@ - + - + - + OMIM:619009 @@ -68299,16 +68275,16 @@ - + - + - + OMIM:619012 @@ -68317,16 +68293,16 @@ - + - + - + OMIM:619024 @@ -68335,16 +68311,16 @@ - + - + - + OMIM:619025 @@ -68353,16 +68329,16 @@ - + - + - + OMIM:619030 @@ -68371,16 +68347,16 @@ - + - + - + OMIM:619028 @@ -68389,16 +68365,16 @@ - + - + - + OMIM:619040 @@ -68407,16 +68383,16 @@ - + - + - + OMIM:619044 @@ -68425,16 +68401,16 @@ - + - + - + OMIM:619057 @@ -68443,16 +68419,16 @@ - + - + - + OMIM:619046 @@ -68461,16 +68437,16 @@ - + - + - + OMIM:619048 @@ -68479,16 +68455,16 @@ - + - + - + OMIM:619051 @@ -68497,16 +68473,16 @@ - + - + - + OMIM:619052 @@ -68515,16 +68491,16 @@ - + - + - + OMIM:619053 @@ -68533,16 +68509,16 @@ - + - + - + OMIM:619073 @@ -68551,16 +68527,16 @@ - + - + - + OMIM:619074 @@ -68569,16 +68545,16 @@ - + - + - + OMIM:619075 @@ -68587,16 +68563,16 @@ - + - + - + OMIM:619079 @@ -68605,16 +68581,16 @@ - + - + - + OMIM:619082 @@ -68623,16 +68599,16 @@ - + - + - + OMIM:619054 @@ -68641,16 +68617,16 @@ - + - + - + OMIM:619055 @@ -68659,16 +68635,16 @@ - + - + - + OMIM:619058 @@ -68677,16 +68653,16 @@ - + - + - + OMIM:619059 @@ -68695,16 +68671,16 @@ - + - + - + OMIM:619060 @@ -68713,16 +68689,16 @@ - + - + - + OMIM:619061 @@ -68731,16 +68707,16 @@ - + - + - + OMIM:619062 @@ -68749,16 +68725,16 @@ - + - + - + OMIM:619063 @@ -68767,16 +68743,16 @@ - + - + - + OMIM:619064 @@ -68785,16 +68761,16 @@ - + - + - + OMIM:619065 @@ -68803,16 +68779,16 @@ - + - + - + OMIM:619071 @@ -68821,16 +68797,16 @@ - + - + - + OMIM:619072 @@ -68839,16 +68815,16 @@ - + - + - + OMIM:619076 @@ -68857,16 +68833,16 @@ - + - + - + OMIM:619086 @@ -68875,16 +68851,16 @@ - + - + - + OMIM:619087 @@ -68893,16 +68869,16 @@ - + - + - + OMIM:619093 @@ -68911,16 +68887,16 @@ - + - + - + OMIM:619094 @@ -68929,16 +68905,16 @@ - + - + - + OMIM:619095 @@ -68947,16 +68923,16 @@ - + - + - + OMIM:618218 @@ -68965,16 +68941,16 @@ - + - + - + OMIM:618261 @@ -68983,16 +68959,16 @@ - + - + - + OMIM:618379 @@ -69001,16 +68977,16 @@ - + - + - + OMIM:618414 @@ -69019,16 +68995,16 @@ - + - + - + OMIM:618321 @@ -69037,16 +69013,16 @@ - + - + - + OMIM:618440 @@ -69055,16 +69031,16 @@ - + - + - + OMIM:617991 @@ -69073,16 +69049,16 @@ - + - + - + OMIM:619273 @@ -69091,16 +69067,16 @@ - + - + - + OMIM:619318 @@ -69109,16 +69085,16 @@ - + - + - + OMIM:619279 @@ -69127,16 +69103,16 @@ - + - + - + OMIM:617816 @@ -69145,16 +69121,16 @@ - + - + - + OMIM:617825 @@ -69163,16 +69139,16 @@ - + - + - + OMIM:617681 @@ -69181,16 +69157,16 @@ - + - + - + OMIM:261500 @@ -69199,16 +69175,16 @@ - + - + - + OMIM:617941 @@ -69217,16 +69193,16 @@ - + - + - + OMIM:617475 @@ -69235,16 +69211,16 @@ - + - + - + OMIM:171200 @@ -69253,16 +69229,16 @@ - + - + - + OMIM:602025 @@ -69271,16 +69247,16 @@ - + - + - + OMIM:608622 @@ -69289,16 +69265,16 @@ - + - + - + OMIM:613418 @@ -69307,16 +69283,16 @@ - + - + - + OMIM:614411 @@ -69325,16 +69301,16 @@ - + - + - + OMIM:615082 @@ -69343,16 +69319,16 @@ - + - + - + OMIM:615264 @@ -69361,16 +69337,16 @@ - + - + - + OMIM:615457 @@ -69379,16 +69355,16 @@ - + - + - + OMIM:616224 @@ -69397,16 +69373,16 @@ - + - + - + OMIM:617360 @@ -69415,16 +69391,16 @@ - + - + - + OMIM:617364 @@ -69433,16 +69409,16 @@ - + - + - + OMIM:617384 @@ -69451,16 +69427,16 @@ - + - + - + OMIM:617392 @@ -69469,16 +69445,16 @@ - + - + - + OMIM:617393 @@ -69487,16 +69463,16 @@ - + - + - + OMIM:617408 @@ -69505,16 +69481,16 @@ - + - + - + OMIM:617409 @@ -69523,16 +69499,16 @@ - + - + - + OMIM:617412 @@ -69541,16 +69517,16 @@ - + - + - + OMIM:617425 @@ -69559,16 +69535,16 @@ - + - + - + OMIM:617432 @@ -69577,16 +69553,16 @@ - + - + - + OMIM:617433 @@ -69595,16 +69571,16 @@ - + - + - + OMIM:617441 @@ -69613,16 +69589,16 @@ - + - + - + OMIM:617452 @@ -69631,16 +69607,16 @@ - + - + - + OMIM:617478 @@ -69649,16 +69625,16 @@ - + - + - + OMIM:617532 @@ -69667,16 +69643,16 @@ - + - + - + OMIM:617537 @@ -69685,16 +69661,16 @@ - + - + - + OMIM:617694 @@ -69703,16 +69679,16 @@ - + - + - + OMIM:617784 @@ -69721,16 +69697,16 @@ - + - + - + OMIM:617952 @@ -69739,16 +69715,16 @@ - + - + - + OMIM:618011 @@ -69757,16 +69733,16 @@ - + - + - + OMIM:617763 @@ -69775,16 +69751,16 @@ - + - + - + OMIM:617193 @@ -69793,16 +69769,16 @@ - + - + - + OMIM:614674 @@ -69811,16 +69787,16 @@ - + - + - + OMIM:617669 @@ -69829,16 +69805,16 @@ - + - + - + OMIM:617672 @@ -69847,16 +69823,16 @@ - + - + - + OMIM:301018 @@ -69865,16 +69841,16 @@ - + - + - + OMIM:617675 @@ -69883,16 +69859,16 @@ - + - + - + OMIM:617762 @@ -69901,16 +69877,16 @@ - + - + - + OMIM:614575 @@ -69919,16 +69895,16 @@ - + - + - + OMIM:617514 @@ -69937,16 +69913,16 @@ - + - + - + OMIM:617698 @@ -69955,16 +69931,16 @@ - + - + - + OMIM:617827 @@ -69973,16 +69949,16 @@ - + - + - + OMIM:617595 @@ -69991,16 +69967,16 @@ - + - + - + OMIM:617557 @@ -70009,16 +69985,16 @@ - + - + - + OMIM:612885 @@ -70027,16 +70003,16 @@ - + - + - + OMIM:618014 @@ -70045,16 +70021,16 @@ - + - + - + OMIM:301010 @@ -70063,16 +70039,16 @@ - + - + - + OMIM:301013 @@ -70081,16 +70057,16 @@ - + - + - + OMIM:617395 @@ -70099,16 +70075,16 @@ - + - + - + OMIM:617396 @@ -70117,16 +70093,16 @@ - + - + - + OMIM:617405 @@ -70135,16 +70111,16 @@ - + - + - + OMIM:617443 @@ -70153,16 +70129,16 @@ - + - + - + OMIM:617466 @@ -70171,16 +70147,16 @@ - + - + - + OMIM:617506 @@ -70189,16 +70165,16 @@ - + - + - + OMIM:617516 @@ -70207,16 +70183,16 @@ - + - + - + OMIM:617520 @@ -70225,16 +70201,16 @@ - + - + - + OMIM:617616 @@ -70243,16 +70219,16 @@ - + - + - + OMIM:607721 @@ -70261,16 +70237,16 @@ - + - + - + OMIM:617664 @@ -70279,16 +70255,16 @@ - + - + - + OMIM:617695 @@ -70297,16 +70273,16 @@ - + - + - + OMIM:617713 @@ -70315,16 +70291,16 @@ - + - + - + OMIM:617765 @@ -70333,16 +70309,16 @@ - + - + - + OMIM:617585 @@ -70351,16 +70327,16 @@ - + - + - + OMIM:256040 @@ -70369,16 +70345,16 @@ - + - + - + OMIM:617591 @@ -70387,16 +70363,16 @@ - + - + - + OMIM:617768 @@ -70405,16 +70381,16 @@ - + - + - + OMIM:617593 @@ -70423,16 +70399,16 @@ - + - + - + OMIM:617644 @@ -70441,16 +70417,16 @@ - + - + - + OMIM:617707 @@ -70459,16 +70435,16 @@ - + - + - + OMIM:617959 @@ -70477,16 +70453,16 @@ - + - + - + OMIM:617960 @@ -70495,16 +70471,16 @@ - + - + - + OMIM:617961 @@ -70513,16 +70489,16 @@ - + - + - + OMIM:617965 @@ -70531,16 +70507,16 @@ - + - + - + OMIM:618091 @@ -70549,16 +70525,16 @@ - + - + - + OMIM:219000 @@ -70567,16 +70543,16 @@ - + - + - + OMIM:617667 @@ -70585,16 +70561,16 @@ - + - + - + OMIM:617872 @@ -70603,16 +70579,16 @@ - + - + - + OMIM:617873 @@ -70621,16 +70597,16 @@ - + - + - + OMIM:617885 @@ -70639,16 +70615,16 @@ - + - + - + OMIM:617916 @@ -70657,16 +70633,16 @@ - + - + - + OMIM:617917 @@ -70675,16 +70651,16 @@ - + - + - + OMIM:617920 @@ -70693,16 +70669,16 @@ - + - + - + OMIM:617927 @@ -70711,16 +70687,16 @@ - + - + - + OMIM:617928 @@ -70729,16 +70705,16 @@ - + - + - + OMIM:617950 @@ -70747,16 +70723,16 @@ - + - + - + OMIM:617951 @@ -70765,16 +70741,16 @@ - + - + - + OMIM:617954 @@ -70783,16 +70759,16 @@ - + - + - + OMIM:617964 @@ -70801,16 +70777,16 @@ - + - + - + OMIM:617983 @@ -70819,16 +70795,16 @@ - + - + - + OMIM:617984 @@ -70837,16 +70813,16 @@ - + - + - + OMIM:617985 @@ -70855,16 +70831,16 @@ - + - + - + OMIM:618000 @@ -70873,16 +70849,16 @@ - + - + - + OMIM:618006 @@ -70891,16 +70867,16 @@ - + - + - + OMIM:618027 @@ -70909,16 +70885,16 @@ - + - + - + OMIM:618050 @@ -70927,16 +70903,16 @@ - + - + - + OMIM:618052 @@ -70945,16 +70921,16 @@ - + - + - + OMIM:618061 @@ -70963,16 +70939,16 @@ - + - + - + OMIM:618063 @@ -70981,16 +70957,16 @@ - + - + - + OMIM:618065 @@ -70999,16 +70975,16 @@ - + - + - + OMIM:618067 @@ -71017,16 +70993,16 @@ - + - + - + OMIM:618074 @@ -71035,16 +71011,16 @@ - + - + - + OMIM:618075 @@ -71053,16 +71029,16 @@ - + - + - + OMIM:618077 @@ -71071,16 +71047,16 @@ - + - + - + OMIM:618084 @@ -71089,16 +71065,16 @@ - + - + - + OMIM:617523 @@ -71107,16 +71083,16 @@ - + - + - + OMIM:301015 @@ -71125,16 +71101,16 @@ - + - + - + OMIM:617468 @@ -71143,16 +71119,16 @@ - + - + - + OMIM:617481 @@ -71161,16 +71137,16 @@ - + - + - + OMIM:617519 @@ -71179,16 +71155,16 @@ - + - + - + OMIM:617527 @@ -71197,16 +71173,16 @@ - + - + - + OMIM:617561 @@ -71215,16 +71191,16 @@ - + - + - + OMIM:617596 @@ -71233,16 +71209,16 @@ - + - + - + OMIM:617641 @@ -71251,16 +71227,16 @@ - + - + - + OMIM:617642 @@ -71269,16 +71245,16 @@ - + - + - + OMIM:617660 @@ -71287,16 +71263,16 @@ - + - + - + OMIM:617662 @@ -71305,16 +71281,16 @@ - + - + - + OMIM:617668 @@ -71323,16 +71299,16 @@ - + - + - + OMIM:617671 @@ -71341,16 +71317,16 @@ - + - + - + OMIM:617682 @@ -71359,16 +71335,16 @@ - + - + - + OMIM:617709 @@ -71377,16 +71353,16 @@ - + - + - + OMIM:617718 @@ -71395,16 +71371,16 @@ - + - + - + OMIM:617732 @@ -71413,16 +71389,16 @@ - + - + - + OMIM:617744 @@ -71431,16 +71407,16 @@ - + - + - + OMIM:617802 @@ -71449,16 +71425,16 @@ - + - + - + OMIM:617804 @@ -71467,16 +71443,16 @@ - + - + - + OMIM:617807 @@ -71485,16 +71461,16 @@ - + - + - + OMIM:617810 @@ -71503,16 +71479,16 @@ - + - + - + OMIM:617862 @@ -71521,16 +71497,16 @@ - + - + - + OMIM:617864 @@ -71539,16 +71515,16 @@ - + - + - + OMIM:617879 @@ -71557,16 +71533,16 @@ - + - + - + OMIM:617912 @@ -71575,16 +71551,16 @@ - + - + - + OMIM:617913 @@ -71593,16 +71569,16 @@ - + - + - + OMIM:617915 @@ -71611,16 +71587,16 @@ - + - + - + OMIM:617977 @@ -71629,16 +71605,16 @@ - + - + - + OMIM:617982 @@ -71647,16 +71623,16 @@ - + - + - + OMIM:617988 @@ -71665,16 +71641,16 @@ - + - + - + OMIM:617994 @@ -71683,16 +71659,16 @@ - + - + - + OMIM:618010 @@ -71701,16 +71677,16 @@ - + - + - + OMIM:618015 @@ -71719,16 +71695,16 @@ - + - + - + OMIM:618060 @@ -71737,16 +71713,16 @@ - + - + - + OMIM:618076 @@ -71755,16 +71731,16 @@ - + - + - + OMIM:618088 @@ -71773,16 +71749,16 @@ - + - + - + OMIM:618089 @@ -71791,16 +71767,16 @@ - + - + - + OMIM:618090 @@ -71809,16 +71785,16 @@ - + - + - + OMIM:273395 @@ -71827,16 +71803,16 @@ - + - + - + OMIM:300909 @@ -71845,16 +71821,16 @@ - + - + - + OMIM:226400 @@ -71863,16 +71839,16 @@ - + - + - + OMIM:177650 @@ -71881,16 +71857,16 @@ - + - + - + OMIM:618850 @@ -71899,16 +71875,16 @@ - + - + - + OMIM:614937 @@ -71917,16 +71893,16 @@ - + - + - + OMIM:618170 @@ -71935,16 +71911,16 @@ - + - + - + OMIM:618393 @@ -71953,16 +71929,16 @@ - + - + - + OMIM:618360 @@ -71971,16 +71947,16 @@ - + - + - + OMIM:619428 @@ -71989,16 +71965,16 @@ - + - + - + OMIM:618458 @@ -72007,16 +71983,16 @@ - + - + - + OMIM:618882 @@ -72025,16 +72001,16 @@ - + - + - + OMIM:613658 @@ -72043,16 +72019,16 @@ - + - + - + OMIM:620062 @@ -72061,16 +72037,16 @@ - + - + - + OMIM:619013 @@ -72079,16 +72055,16 @@ - + - + - + OMIM:252010 @@ -72097,16 +72073,16 @@ - + - + - + OMIM:211900 @@ -72115,16 +72091,16 @@ - + - + - + OMIM:614300 @@ -72133,16 +72109,16 @@ - + - + - + OMIM:619941 @@ -72151,16 +72127,16 @@ - + - + - + OMIM:601678 @@ -72169,16 +72145,16 @@ - + - + - + OMIM:604307 @@ -72187,16 +72163,16 @@ - + - + - + OMIM:193235 @@ -72205,16 +72181,16 @@ - + - + - + OMIM:613735 @@ -72223,16 +72199,16 @@ - + - + - + OMIM:146550 @@ -72241,16 +72217,16 @@ - + - + - + OMIM:310300 @@ -72259,16 +72235,16 @@ - + - + - + OMIM:118800 @@ -72277,16 +72253,16 @@ - + - + - + OMIM:600512 @@ -72295,16 +72271,16 @@ - + - + - + OMIM:270100 @@ -72313,16 +72289,16 @@ - + - + - + OMIM:614163 @@ -72331,16 +72307,16 @@ - + - + - + OMIM:243150 @@ -72349,16 +72325,16 @@ - + - + - + OMIM:601559 @@ -72367,16 +72343,16 @@ - + - + - + OMIM:615273 @@ -72385,16 +72361,16 @@ - + - + - + OMIM:616744 @@ -72403,16 +72379,16 @@ - + - + - + OMIM:609698 @@ -72421,16 +72397,16 @@ - + - + - + OMIM:613112 @@ -72439,16 +72415,16 @@ - + - + - + OMIM:619924 @@ -72457,16 +72433,16 @@ - + - + - + OMIM:619375 @@ -72475,16 +72451,16 @@ - + - + - + OMIM:619858 @@ -72493,16 +72469,16 @@ - + - + - + OMIM:620681 @@ -72511,16 +72487,16 @@ - + - + - + OMIM:213980 @@ -72529,16 +72505,16 @@ - + - + - + OMIM:254940 @@ -72547,16 +72523,16 @@ - + - + - + OMIM:616901 @@ -72565,16 +72541,16 @@ - + - + - + OMIM:614009 @@ -72583,16 +72559,16 @@ - + - + - + OMIM:620459 @@ -72601,16 +72577,16 @@ - + - + - + OMIM:619297 @@ -72619,16 +72595,16 @@ - + - + - + OMIM:301094 @@ -72637,16 +72613,16 @@ - + - + - + OMIM:619268 @@ -72655,16 +72631,16 @@ - + - + - + OMIM:619286 @@ -72673,16 +72649,16 @@ - + - + - + OMIM:619306 @@ -72691,16 +72667,16 @@ - + - + - + OMIM:619311 @@ -72709,16 +72685,16 @@ - + - + - + OMIM:619312 @@ -72727,16 +72703,16 @@ - + - + - + OMIM:619314 @@ -72745,16 +72721,16 @@ - + - + - + OMIM:619321 @@ -72763,16 +72739,16 @@ - + - + - + OMIM:619323 @@ -72781,16 +72757,16 @@ - + - + - + OMIM:619324 @@ -72799,16 +72775,16 @@ - + - + - + OMIM:619326 @@ -72817,16 +72793,16 @@ - + - + - + OMIM:619333 @@ -72835,16 +72811,16 @@ - + - + - + OMIM:619352 @@ -72853,16 +72829,16 @@ - + - + - + OMIM:619354 @@ -72871,16 +72847,16 @@ - + - + - + OMIM:619355 @@ -72889,16 +72865,16 @@ - + - + - + OMIM:619356 @@ -72907,16 +72883,16 @@ - + - + - + OMIM:619373 @@ -72925,16 +72901,16 @@ - + - + - + OMIM:619376 @@ -72943,16 +72919,16 @@ - + - + - + OMIM:619377 @@ -72961,16 +72937,16 @@ - + - + - + OMIM:619383 @@ -72979,16 +72955,16 @@ - + - + - + OMIM:619406 @@ -72997,16 +72973,16 @@ - + - + - + OMIM:619426 @@ -73015,16 +72991,16 @@ - + - + - + OMIM:619460 @@ -73033,16 +73009,16 @@ - + - + - + OMIM:619468 @@ -73051,16 +73027,16 @@ - + - + - + OMIM:619470 @@ -73069,16 +73045,16 @@ - + - + - + OMIM:619472 @@ -73087,16 +73063,16 @@ - + - + - + OMIM:619475 @@ -73105,16 +73081,16 @@ - + - + - + OMIM:619480 @@ -73123,16 +73099,16 @@ - + - + - + OMIM:619481 @@ -73141,16 +73117,16 @@ - + - + - + OMIM:619488 @@ -73159,16 +73135,16 @@ - + - + - + OMIM:619489 @@ -73177,16 +73153,16 @@ - + - + - + OMIM:619504 @@ -73195,16 +73171,16 @@ - + - + - + OMIM:619518 @@ -73213,16 +73189,16 @@ - + - + - + OMIM:619522 @@ -73231,16 +73207,16 @@ - + - + - + OMIM:619543 @@ -73249,16 +73225,16 @@ - + - + - + OMIM:619556 @@ -73267,16 +73243,16 @@ - + - + - + OMIM:619557 @@ -73285,16 +73261,16 @@ - + - + - + OMIM:619575 @@ -73303,16 +73279,16 @@ - + - + - + OMIM:619576 @@ -73321,16 +73297,16 @@ - + - + - + OMIM:619639 @@ -73339,16 +73315,16 @@ - + - + - + OMIM:619641 @@ -73357,16 +73333,16 @@ - + - + - + OMIM:619648 @@ -73375,16 +73351,16 @@ - + - + - + OMIM:619653 @@ -73393,16 +73369,16 @@ - + - + - + OMIM:619680 @@ -73411,16 +73387,16 @@ - + - + - + OMIM:619681 @@ -73429,16 +73405,16 @@ - + - + - + OMIM:619685 @@ -73447,16 +73423,16 @@ - + - + - + OMIM:619690 @@ -73465,16 +73441,16 @@ - + - + - + OMIM:619694 @@ -73483,16 +73459,16 @@ - + - + - + OMIM:619695 @@ -73501,16 +73477,16 @@ - + - + - + OMIM:619699 @@ -73519,16 +73495,16 @@ - + - + - + OMIM:619701 @@ -73537,16 +73513,16 @@ - + - + - + OMIM:619702 @@ -73555,16 +73531,16 @@ - + - + - + OMIM:619727 @@ -73573,16 +73549,16 @@ - + - + - + OMIM:619743 @@ -73591,16 +73567,16 @@ - + - + - + OMIM:619769 @@ -73609,16 +73585,16 @@ - + - + - + OMIM:619797 @@ -73627,16 +73603,16 @@ - + - + - + OMIM:619817 @@ -73645,16 +73621,16 @@ - + - + - + OMIM:619833 @@ -73663,16 +73639,16 @@ - + - + - + OMIM:619841 @@ -73681,16 +73657,16 @@ - + - + - + OMIM:619844 @@ -73699,16 +73675,16 @@ - + - + - + OMIM:619847 @@ -73717,16 +73693,16 @@ - + - + - + OMIM:619854 @@ -73735,16 +73711,16 @@ - + - + - + OMIM:619859 @@ -73753,16 +73729,16 @@ - + - + - + OMIM:619864 @@ -73771,16 +73747,16 @@ - + - + - + OMIM:619869 @@ -73789,16 +73765,16 @@ - + - + - + OMIM:619873 @@ -73807,16 +73783,16 @@ - + - + - + OMIM:619876 @@ -73825,16 +73801,16 @@ - + - + - + OMIM:619877 @@ -73843,16 +73819,16 @@ - + - + - + OMIM:619880 @@ -73861,16 +73837,16 @@ - + - + - + OMIM:619902 @@ -73879,16 +73855,16 @@ - + - + - + OMIM:619908 @@ -73897,16 +73873,16 @@ - + - + - + OMIM:619911 @@ -73915,16 +73891,16 @@ - + - + - + OMIM:619955 @@ -73933,16 +73909,16 @@ - + - + - + OMIM:619959 @@ -73951,16 +73927,16 @@ - + - + - + OMIM:619964 @@ -73969,16 +73945,16 @@ - + - + - + OMIM:619967 @@ -73987,16 +73963,16 @@ - + - + - + OMIM:619972 @@ -74005,16 +73981,16 @@ - + - + - + OMIM:619985 @@ -74023,16 +73999,16 @@ - + - + - + OMIM:619989 @@ -74041,16 +74017,16 @@ - + - + - + OMIM:619991 @@ -74059,16 +74035,16 @@ - + - + - + OMIM:620001 @@ -74077,16 +74053,16 @@ - + - + - + OMIM:620005 @@ -74095,16 +74071,16 @@ - + - + - + OMIM:620007 @@ -74113,16 +74089,16 @@ - + - + - + OMIM:620012 @@ -74131,16 +74107,16 @@ - + - + - + OMIM:620021 @@ -74149,16 +74125,16 @@ - + - + - + OMIM:620023 @@ -74167,16 +74143,16 @@ - + - + - + OMIM:620024 @@ -74185,16 +74161,16 @@ - + - + - + OMIM:620027 @@ -74203,16 +74179,16 @@ - + - + - + OMIM:620038 @@ -74221,16 +74197,16 @@ - + - + - + OMIM:620044 @@ -74239,16 +74215,16 @@ - + - + - + OMIM:620065 @@ -74257,16 +74233,16 @@ - + - + - + OMIM:620066 @@ -74275,16 +74251,16 @@ - + - + - + OMIM:620070 @@ -74293,16 +74269,16 @@ - + - + - + OMIM:620071 @@ -74311,16 +74287,16 @@ - + - + - + OMIM:620073 @@ -74329,16 +74305,16 @@ - + - + - + OMIM:620075 @@ -74347,16 +74323,16 @@ - + - + - + OMIM:620083 @@ -74365,16 +74341,16 @@ - + - + - + OMIM:620085 @@ -74383,16 +74359,16 @@ - + - + - + OMIM:620086 @@ -74401,16 +74377,16 @@ - + - + - + OMIM:620089 @@ -74419,16 +74395,16 @@ - + - + - + OMIM:620094 @@ -74437,16 +74413,16 @@ - + - + - + OMIM:620098 @@ -74455,16 +74431,16 @@ - + - + - + OMIM:620099 @@ -74473,16 +74449,16 @@ - + - + - + OMIM:620106 @@ -74491,16 +74467,16 @@ - + - + - + OMIM:620107 @@ -74509,16 +74485,16 @@ - + - + - + OMIM:620113 @@ -74527,16 +74503,16 @@ - + - + - + OMIM:620114 @@ -74545,16 +74521,16 @@ - + - + - + OMIM:620115 @@ -74563,16 +74539,16 @@ - + - + - + OMIM:620121 @@ -74581,16 +74557,16 @@ - + - + - + OMIM:620133 @@ -74599,16 +74575,16 @@ - + - + - + OMIM:620135 @@ -74617,16 +74593,16 @@ - + - + - + OMIM:620137 @@ -74635,16 +74611,16 @@ - + - + - + OMIM:620138 @@ -74653,16 +74629,16 @@ - + - + - + OMIM:620139 @@ -74671,16 +74647,16 @@ - + - + - + OMIM:620141 @@ -74689,16 +74665,16 @@ - + - + - + OMIM:620145 @@ -74707,16 +74683,16 @@ - + - + - + OMIM:620149 @@ -74725,16 +74701,16 @@ - + - + - + OMIM:620152 @@ -74743,16 +74719,16 @@ - + - + - + OMIM:620153 @@ -74761,16 +74737,16 @@ - + - + - + OMIM:620154 @@ -74779,16 +74755,16 @@ - + - + - + OMIM:620156 @@ -74797,16 +74773,16 @@ - + - + - + OMIM:620158 @@ -74815,16 +74791,16 @@ - + - + - + OMIM:620161 @@ -74833,16 +74809,16 @@ - + - + - + OMIM:620167 @@ -74851,16 +74827,16 @@ - + - + - + OMIM:620170 @@ -74869,16 +74845,16 @@ - + - + - + OMIM:620177 @@ -74887,16 +74863,16 @@ - + - + - + OMIM:620191 @@ -74905,16 +74881,16 @@ - + - + - + OMIM:620194 @@ -74923,16 +74899,16 @@ - + - + - + OMIM:620196 @@ -74941,16 +74917,16 @@ - + - + - + OMIM:620197 @@ -74959,16 +74935,16 @@ - + - + - + OMIM:620198 @@ -74977,16 +74953,16 @@ - + - + - + OMIM:620199 @@ -74995,16 +74971,16 @@ - + - + - + OMIM:620200 @@ -75013,16 +74989,16 @@ - + - + - + OMIM:620201 @@ -75031,16 +75007,16 @@ - + - + - + OMIM:620203 @@ -75049,16 +75025,16 @@ - + - + - + OMIM:620210 @@ -75067,16 +75043,16 @@ - + - + - + OMIM:620211 @@ -75085,16 +75061,16 @@ - + - + - + OMIM:620227 @@ -75103,16 +75079,16 @@ - + - + - + OMIM:620231 @@ -75121,16 +75097,16 @@ - + - + - + OMIM:620232 @@ -75139,16 +75115,16 @@ - + - + - + OMIM:620233 @@ -75157,16 +75133,16 @@ - + - + - + OMIM:620235 @@ -75175,16 +75151,16 @@ - + - + - + OMIM:620238 @@ -75193,16 +75169,16 @@ - + - + - + OMIM:620240 @@ -75211,16 +75187,16 @@ - + - + - + OMIM:620241 @@ -75229,16 +75205,16 @@ - + - + - + OMIM:620242 @@ -75247,16 +75223,16 @@ - + - + - + OMIM:620243 @@ -75265,16 +75241,16 @@ - + - + - + OMIM:620245 @@ -75283,16 +75259,16 @@ - + - + - + OMIM:620247 @@ -75301,16 +75277,16 @@ - + - + - + OMIM:301099 @@ -75319,16 +75295,16 @@ - + - + - + OMIM:301101 @@ -75337,16 +75313,16 @@ - + - + - + OMIM:620250 @@ -75355,16 +75331,16 @@ - + - + - + OMIM:620269 @@ -75373,16 +75349,16 @@ - + - + - + OMIM:620270 @@ -75391,16 +75367,16 @@ - + - + - + OMIM:620275 @@ -75409,16 +75385,16 @@ - + - + - + OMIM:620276 @@ -75427,16 +75403,16 @@ - + - + - + OMIM:620277 @@ -75445,16 +75421,16 @@ - + - + - + OMIM:620280 @@ -75463,16 +75439,16 @@ - + - + - + OMIM:620281 @@ -75481,16 +75457,16 @@ - + - + - + OMIM:620282 @@ -75499,16 +75475,16 @@ - + - + - + OMIM:620283 @@ -75517,16 +75493,16 @@ - + - + - + OMIM:620284 @@ -75535,16 +75511,16 @@ - + - + - + OMIM:620286 @@ -75553,16 +75529,16 @@ - + - + - + OMIM:620292 @@ -75571,16 +75547,16 @@ - + - + - + OMIM:620294 @@ -75589,16 +75565,16 @@ - + - + - + OMIM:301091 @@ -75607,16 +75583,16 @@ - + - + - + OMIM:616994 @@ -75625,16 +75601,16 @@ - + - + - + OMIM:619977 @@ -75643,16 +75619,16 @@ - + - + - + OMIM:619981 @@ -75661,16 +75637,16 @@ - + - + - + OMIM:620025 @@ -75679,16 +75655,16 @@ - + - + - + OMIM:620067 @@ -75697,16 +75673,16 @@ - + - + - + OMIM:620184 @@ -75715,16 +75691,16 @@ - + - + - + OMIM:620185 @@ -75733,16 +75709,16 @@ - + - + - + OMIM:301106 @@ -75751,16 +75727,16 @@ - + - + - + OMIM:301107 @@ -75769,16 +75745,16 @@ - + - + - + OMIM:620296 @@ -75787,16 +75763,16 @@ - + - + - + OMIM:620306 @@ -75805,16 +75781,16 @@ - + - + - + OMIM:620310 @@ -75823,16 +75799,16 @@ - + - + - + OMIM:620316 @@ -75841,16 +75817,16 @@ - + - + - + OMIM:620319 @@ -75859,16 +75835,16 @@ - + - + - + OMIM:620326 @@ -75877,16 +75853,16 @@ - + - + - + OMIM:620327 @@ -75895,16 +75871,16 @@ - + - + - + OMIM:620330 @@ -75913,16 +75889,16 @@ - + - + - + OMIM:620331 @@ -75931,16 +75907,16 @@ - + - + - + OMIM:620332 @@ -75949,16 +75925,16 @@ - + - + - + OMIM:620333 @@ -75967,16 +75943,16 @@ - + - + - + OMIM:620353 @@ -75985,16 +75961,16 @@ - + - + - + OMIM:620354 @@ -76003,16 +75979,16 @@ - + - + - + OMIM:620356 @@ -76021,16 +75997,16 @@ - + - + - + OMIM:620357 @@ -76039,16 +76015,16 @@ - + - + - + OMIM:620359 @@ -76057,16 +76033,16 @@ - + - + - + OMIM:620365 @@ -76075,16 +76051,16 @@ - + - + - + OMIM:620366 @@ -76093,16 +76069,16 @@ - + - + - + OMIM:620370 @@ -76111,16 +76087,16 @@ - + - + - + OMIM:620371 @@ -76129,16 +76105,16 @@ - + - + - + OMIM:620376 @@ -76147,16 +76123,16 @@ - + - + - + OMIM:620379 @@ -76165,16 +76141,16 @@ - + - + - + OMIM:620383 @@ -76183,16 +76159,16 @@ - + - + - + OMIM:620393 @@ -76201,16 +76177,16 @@ - + - + - + OMIM:620409 @@ -76219,16 +76195,16 @@ - + - + - + OMIM:620415 @@ -76237,16 +76213,16 @@ - + - + - + OMIM:620422 @@ -76255,16 +76231,16 @@ - + - + - + OMIM:620423 @@ -76273,16 +76249,16 @@ - + - + - + OMIM:620427 @@ -76291,16 +76267,16 @@ - + - + - + OMIM:620428 @@ -76309,16 +76285,16 @@ - + - + - + OMIM:620430 @@ -76327,16 +76303,16 @@ - + - + - + OMIM:620438 @@ -76345,16 +76321,16 @@ - + - + - + OMIM:620439 @@ -76363,16 +76339,16 @@ - + - + - + OMIM:301109 @@ -76381,16 +76357,16 @@ - + - + - + OMIM:301111 @@ -76399,16 +76375,16 @@ - + - + - + OMIM:620445 @@ -76417,16 +76393,16 @@ - + - + - + OMIM:620447 @@ -76435,16 +76411,16 @@ - + - + - + OMIM:620448 @@ -76453,16 +76429,16 @@ - + - + - + OMIM:620449 @@ -76471,16 +76447,16 @@ - + - + - + OMIM:620450 @@ -76489,16 +76465,16 @@ - + - + - + OMIM:620451 @@ -76507,16 +76483,16 @@ - + - + - + OMIM:620454 @@ -76525,16 +76501,16 @@ - + - + - + OMIM:620455 @@ -76543,16 +76519,16 @@ - + - + - + OMIM:620457 @@ -76561,16 +76537,16 @@ - + - + - + OMIM:620462 @@ -76579,16 +76555,16 @@ - + - + - + OMIM:620461 @@ -76597,16 +76573,16 @@ - + - + - + OMIM:620469 @@ -76615,16 +76591,16 @@ - + - + - + OMIM:620482 @@ -76633,16 +76609,16 @@ - + - + - + OMIM:620486 @@ -76651,16 +76627,16 @@ - + - + - + OMIM:620489 @@ -76669,16 +76645,16 @@ - + - + - + OMIM:620490 @@ -76687,16 +76663,16 @@ - + - + - + OMIM:620494 @@ -76705,16 +76681,16 @@ - + - + - + OMIM:620499 @@ -76723,16 +76699,16 @@ - + - + - + OMIM:620500 @@ -76741,16 +76717,16 @@ - + - + - + OMIM:620501 @@ -76759,16 +76735,16 @@ - + - + - + OMIM:620502 @@ -76777,16 +76753,16 @@ - + - + - + OMIM:620507 @@ -76795,16 +76771,16 @@ - + - + - + OMIM:620511 @@ -76813,16 +76789,16 @@ - + - + - + OMIM:620514 @@ -76831,16 +76807,16 @@ - + - + - + OMIM:620515 @@ -76849,16 +76825,16 @@ - + - + - + OMIM:620519 @@ -76867,16 +76843,16 @@ - + - + - + OMIM:620532 @@ -76885,16 +76861,16 @@ - + - + - + OMIM:620534 @@ -76903,16 +76879,16 @@ - + - + - + OMIM:620535 @@ -76921,16 +76897,16 @@ - + - + - + OMIM:620537 @@ -76939,16 +76915,16 @@ - + - + - + OMIM:620545 @@ -76957,16 +76933,16 @@ - + - + - + OMIM:620546 @@ -76975,16 +76951,16 @@ - + - + - + OMIM:620550 @@ -76993,16 +76969,16 @@ - + - + - + OMIM:620551 @@ -77011,16 +76987,16 @@ - + - + - + OMIM:620312 @@ -77029,16 +77005,16 @@ - + - + - + OMIM:620313 @@ -77047,16 +77023,16 @@ - + - + - + OMIM:620314 @@ -77065,16 +77041,16 @@ - + - + - + OMIM:620315 @@ -77083,16 +77059,16 @@ - + - + - + OMIM:301114 @@ -77101,16 +77077,16 @@ - + - + - + OMIM:620565 @@ -77119,16 +77095,16 @@ - + - + - + OMIM:620568 @@ -77137,16 +77113,16 @@ - + - + - + OMIM:620570 @@ -77155,16 +77131,16 @@ - + - + - + OMIM:620576 @@ -77173,16 +77149,16 @@ - + - + - + OMIM:620583 @@ -77191,16 +77167,16 @@ - + - + - + OMIM:620601 @@ -77209,16 +77185,16 @@ - + - + - + OMIM:620602 @@ -77227,16 +77203,16 @@ - + - + - + OMIM:620609 @@ -77245,16 +77221,16 @@ - + - + - + OMIM:620610 @@ -77263,16 +77239,16 @@ - + - + - + OMIM:620632 @@ -77281,16 +77257,16 @@ - + - + - + OMIM:620635 @@ -77299,16 +77275,16 @@ - + - + - + OMIM:620639 @@ -77317,16 +77293,16 @@ - + - + - + OMIM:620641 @@ -77335,16 +77311,16 @@ - + - + - + OMIM:620642 @@ -77353,16 +77329,16 @@ - + - + - + OMIM:620646 @@ -77371,16 +77347,16 @@ - + - + - + OMIM:620647 @@ -77389,16 +77365,16 @@ - + - + - + OMIM:620651 @@ -77407,16 +77383,16 @@ - + - + - + OMIM:620653 @@ -77425,16 +77401,16 @@ - + - + - + OMIM:620654 @@ -77443,16 +77419,16 @@ - + - + - + OMIM:620655 @@ -77461,16 +77437,16 @@ - + - + - + OMIM:620679 @@ -77479,16 +77455,16 @@ - + - + - + OMIM:301115 @@ -77497,16 +77473,16 @@ - + - + - + OMIM:620683 @@ -77515,16 +77491,16 @@ - + - + - + OMIM:616863 @@ -77533,16 +77509,16 @@ - + - + - + OMIM:164210 @@ -77551,16 +77527,16 @@ - + - + - + OMIM:164300 @@ -77569,16 +77545,16 @@ - + - + - + OMIM:259680 @@ -77587,16 +77563,16 @@ - + - + - + OMIM:605899 @@ -77605,16 +77581,16 @@ - + - + - + OMIM:608415 @@ -77623,16 +77599,16 @@ - + - + - + OMIM:613652 @@ -77641,16 +77617,16 @@ - + - + - + OMIM:619382 @@ -77659,16 +77635,16 @@ - + - + - + OMIM:620300 @@ -77677,16 +77653,16 @@ - + - + - + OMIM:620321 @@ -77695,16 +77671,16 @@ - + - + - + OMIM:620322 @@ -77713,16 +77689,16 @@ - + - + - + OMIM:620344 @@ -77731,16 +77707,16 @@ - + - + - + OMIM:620374 @@ -77749,16 +77725,16 @@ - + - + - + OMIM:620398 @@ -77767,16 +77743,16 @@ - + - + - + OMIM:620444 @@ -77785,16 +77761,16 @@ - + - + - + OMIM:620465 @@ -77803,16 +77779,16 @@ - + - + - + OMIM:254780 @@ -77821,16 +77797,16 @@ - + - + - + OMIM:301116 @@ -77839,16 +77815,16 @@ - + - + - + OMIM:620688 @@ -77857,16 +77833,16 @@ - + - + - + OMIM:620700 @@ -77875,16 +77851,16 @@ - + - + - + OMIM:620703 @@ -77893,16 +77869,16 @@ - + - + - + OMIM:620705 @@ -77911,16 +77887,16 @@ - + - + - + OMIM:620714 @@ -77929,16 +77905,16 @@ - + - + - + OMIM:620715 @@ -77947,16 +77923,16 @@ - + - + - + OMIM:620718 @@ -77965,16 +77941,16 @@ - + - + - + OMIM:620729 @@ -77983,16 +77959,16 @@ - + - + - + OMIM:620730 @@ -78001,16 +77977,16 @@ - + - + - + OMIM:620731 @@ -78019,16 +77995,16 @@ - + - + - + OMIM:620732 @@ -78037,16 +78013,16 @@ - + - + - + OMIM:620744 @@ -78055,16 +78031,16 @@ - + - + - + OMIM:620745 @@ -78073,16 +78049,16 @@ - + - + - + OMIM:620746 @@ -78091,16 +78067,16 @@ - + - + - + OMIM:301118 @@ -78109,16 +78085,16 @@ - + - + - + OMIM:620747 @@ -78127,16 +78103,16 @@ - + - + - + OMIM:620762 @@ -78145,16 +78121,16 @@ - + - + - + OMIM:620767 @@ -78163,16 +78139,16 @@ - + - + - + OMIM:620772 @@ -78181,16 +78157,16 @@ - + - + - + OMIM:620775 @@ -78199,16 +78175,16 @@ - + - + - + OMIM:620777 @@ -78217,16 +78193,16 @@ - + - + - + OMIM:620779 @@ -78235,16 +78211,16 @@ - + - + - + OMIM:620785 @@ -78253,16 +78229,16 @@ - + - + - + OMIM:620786 @@ -78271,16 +78247,16 @@ - + - + - + OMIM:620789 @@ -78289,16 +78265,16 @@ - + - + - + OMIM:620790 @@ -78307,16 +78283,16 @@ - + - + - + OMIM:620794 @@ -78325,16 +78301,16 @@ - + - + - + OMIM:620795 @@ -78343,16 +78319,16 @@ - + - + - + OMIM:620796 @@ -78361,16 +78337,16 @@ - + - + - + OMIM:301119 @@ -78379,16 +78355,16 @@ - + - + - + OMIM:620820 @@ -78397,16 +78373,16 @@ - + - + - + OMIM:620838 @@ -78415,16 +78391,16 @@ - + - + - + OMIM:620825 @@ -78433,16 +78409,16 @@ - + - + - + OMIM:620840 @@ -78451,16 +78427,16 @@ - + - + - + OMIM:620830 @@ -78469,16 +78445,16 @@ - + - + - + OMIM:620848 @@ -78487,16 +78463,16 @@ - + - + - + OMIM:620849 @@ -78505,16 +78481,16 @@ - + - + - + OMIM:620850 @@ -78523,16 +78499,16 @@ - + - + - + OMIM:604571 @@ -78541,16 +78517,16 @@ - + - + - + OMIM:619539 @@ -78559,16 +78535,16 @@ - + - + - + OMIM:620658 @@ -78577,16 +78553,16 @@ - + - + - + OMIM:620813 @@ -78595,16 +78571,16 @@ - + - + - + OMIM:620814 @@ -78613,16 +78589,16 @@ - + - + - + OMIM:620815 @@ -78631,16 +78607,16 @@ - + - + - + OMIM:620817 @@ -78649,16 +78625,16 @@ - + - + - + OMIM:620852 @@ -78667,16 +78643,16 @@ - + - + - + OMIM:620869 @@ -78685,16 +78661,16 @@ - + - + - + OMIM:620877 @@ -78703,16 +78679,16 @@ - + - + - + OMIM:620793 @@ -78721,16 +78697,16 @@ - + - + - + OMIM:620851 @@ -78739,16 +78715,16 @@ - + - + - + OMIM:620894 @@ -78757,16 +78733,16 @@ - + - + - + OMIM:620897 @@ -78775,16 +78751,16 @@ - + - + - + OMIM:620901 @@ -78793,16 +78769,16 @@ - + - + - + OMIM:616263 @@ -78811,16 +78787,16 @@ - + - + - + OMIM:615559 diff --git a/src/ontology/external/mondo-omim-genes.robot.tsv b/src/ontology/external/mondo-omim-genes.robot.tsv index 27b1649a..07a2d6f8 100644 --- a/src/ontology/external/mondo-omim-genes.robot.tsv +++ b/src/ontology/external/mondo-omim-genes.robot.tsv @@ -757,7 +757,6 @@ http://purl.obolibrary.org/obo/MONDO_0011554 http://identifiers.org/hgnc/24248 O http://purl.obolibrary.org/obo/MONDO_0011568 http://identifiers.org/hgnc/20151 OMIM:605583 https://omim.org/entry/607557 http://purl.obolibrary.org/obo/MONDO_0011577 http://identifiers.org/hgnc/7572 OMIM:605637 https://omim.org/entry/160740 http://purl.obolibrary.org/obo/MONDO_0011579 http://identifiers.org/hgnc/14344 OMIM:605670 https://omim.org/entry/608752 -http://purl.obolibrary.org/obo/MONDO_0011582 http://identifiers.org/hgnc/16287 OMIM:605711 https://omim.org/entry/608100 http://purl.obolibrary.org/obo/MONDO_0011610 http://identifiers.org/hgnc/24475 OMIM:605850 https://omim.org/entry/605849 http://purl.obolibrary.org/obo/MONDO_0011613 http://identifiers.org/hgnc/14581 OMIM:605909 https://omim.org/entry/608309 http://purl.obolibrary.org/obo/MONDO_0011614 http://identifiers.org/hgnc/5008 OMIM:605911 https://omim.org/entry/600234 diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index 7eefe003..6411282f 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index 3ac944a4..bf38df62 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -98798,6 +98798,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -142300,6 +142314,20 @@ + + + + + + + + + + MONDO:NORD + + + + diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index 819935a9..4308e6d3 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -1,5 +1,6 @@ mondo_id report_ref report_ref_source preferred_name preferred_name_source synonym_type subset subset_source subset_source2 ID A oboInOwl:hasDbXref >A oboInOwl:source A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >A oboInOwl:hasSynonymType AI oboInOwl:inSubset >A oboInOwl:source >A oboInOwl:source +MONDO:0032889 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0032745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0031115 ADCY5-Related Dyskinesia http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0025956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -3628,6 +3629,7 @@ MONDO:0016610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0016608 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0016602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016596 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index 1a8c1e0d..2cbddbcd 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -79614,20 +79614,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:289494 - - - - @@ -127301,6 +127287,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:289494 + + + + diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv index 7480703f..95395479 100644 --- a/src/ontology/external/ordo-subsets.robot.tsv +++ b/src/ontology/external/ordo-subsets.robot.tsv @@ -3251,7 +3251,7 @@ MONDO:0013802 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313850 MONDO:0013803 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:542310 leukoencephalopathy with calcifications and cysts Leukoencephalopathy with calcifications and cysts MONDO:0013806 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313846 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome MONDO:0013808 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:163634 Maffucci syndrome Maffucci syndrome -MONDO:0013810 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:464443 COG6-ongenital disorder of glycosylation COG6-CGD +MONDO:0013810 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:464443 COG6-congenital disorder of glycosylation COG6-CGD MONDO:0013811 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:319509 combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 MONDO:0013813 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306734 dystonia 21 Primary dystonia, DYT21 type MONDO:0013815 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313855 bent bone dysplasia syndrome 1 FGFR2-related bent bone dysplasia @@ -5700,7 +5700,6 @@ MONDO:0017328 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0017329 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289365 familial vesicoureteral reflux Familial vesicoureteral reflux MONDO:0017330 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289385 malignancy diagnosed during pregnancy Malignancy diagnosed during pregnancy MONDO:0017332 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289478 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome PASH syndrome -MONDO:0017333 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism 4H leukodystrophy MONDO:0017334 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289513 12q15q21.1 microdeletion syndrome 12q15q21.1 microdeletion syndrome MONDO:0017335 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289522 microtriplication 11q24.1 Microtriplication 11q24.1 MONDO:0017337 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289548 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency @@ -9111,6 +9110,7 @@ MONDO:0700088 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98810 MONDO:0700220 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306644 disease related to transplantation Complication after organ transplantation MONDO:0700264 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477647 type 1 interferonopathy Type 1 interferonopathy MONDO:0700275 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1331 prostate cancer, hereditary Familial prostate cancer +MONDO:0700282 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289494 POLR3-related leukodystrophy 4H leukodystrophy MONDO:0800025 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1519 Teebi hypertelorism syndrome 1 SPECC1L-related hypertelorism syndrome MONDO:0800026 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Congenital central hypoventilation syndrome MONDO:0800027 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313808 leukoencephalopathy, diffuse hereditary, with spheroids 1 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 95f7d38f..cd74f237 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-09-12") +Annotation(owl:versionInfo "2024-09-27") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 4e52e041..33e9de95 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-09-12") +Annotation(owl:versionInfo "2024-09-27") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 2655444a..2a982bf6 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,53 +3,54 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 51 - * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 18 - * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 33 - * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 33 - * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 2376 - * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1974 + * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 44 + * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 31 + * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 30 + * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 30 + * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 2378 + * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1975 * Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 - * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1649 + * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1651 * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 907 * Number of mappings in [`unmapped_icd10who_mondo`](mondo-only/unmapped_icd10who_mondo.tsv): 2 * Number of mappings in [`unmapped_icd10who_mondo_exact`](mondo-only/unmapped_icd10who_mondo.tsv): 2 - * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5837 - * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5827 - * Number of mappings in [`unmapped_icd11foundation_mondo`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42 - * Number of mappings in [`unmapped_icd11foundation_mondo_exact`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42 - * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 117 - * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 46 - * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 15 - * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 15 - * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 1 - * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 1 - * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 116 - * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 116 + * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5840 + * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5826 + * Number of mappings in [`unmapped_icd11foundation_mondo`](mondo-only/unmapped_icd11foundation_mondo.tsv): 41 + * Number of mappings in [`unmapped_icd11foundation_mondo_exact`](mondo-only/unmapped_icd11foundation_mondo.tsv): 41 + * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 698 + * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 613 + * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 13 + * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 13 + * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 3 + * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 3 + * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 129 + * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 129 * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 1 * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 1 - * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 867 - * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 867 + * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 865 + * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 865 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 241 - * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 2 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 82 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 111 + * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2379 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 114 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6228 + * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 463 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 712 + * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 82 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 385 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 124 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 6 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6085 * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 - * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1706 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6083 - * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 11 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 130 + * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1708 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 72 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 196 + * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 4 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 864 * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 14 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 866 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 60 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 62 * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1649 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 112 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6224 - * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 462 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2377 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index d4fc429e..ded832f1 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -402,6 +402,7 @@ MONDO:0850301 MONDO:equivalentTo ICD10CM:L12 pemphigoid Pemphigoid semapv:Lexica MONDO:0859565 MONDO:equivalentTo ICD10CM:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0956980 MONDO:equivalentTo ICD10CM:G21.4 vascular parkinsonism Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism MONDO:0958083 MONDO:equivalentTo ICD10CM:Q89.4 conjoined twins Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins +MONDO:1030007 MONDO:equivalentTo ICD10CM:I16.0 hypertensive urgency Hypertensive urgency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive urgency MONDO:0971058 MONDO:equivalentTo icd11.foundation:1480386521 verruga peruana Verruga peruana semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verruga peruana MONDO:0971063 MONDO:equivalentTo icd11.foundation:1143673207 autosomal dominant dopa-responsive dystonia Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant dopa-responsive dystonia MONDO:0971107 MONDO:equivalentTo icd11.foundation:551770382 common arterial trunk with aortic dominance Common arterial trunk with aortic dominance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with aortic dominance @@ -411,14 +412,28 @@ MONDO:0971128 MONDO:equivalentTo icd11.foundation:1817745681 multiple evanescent MONDO:0975755 MONDO:equivalentTo icd11.foundation:541084000 eccrine angiomatous hamartoma Eccrine angiomatous hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eccrine angiomatous hamartoma MONDO:0975758 MONDO:equivalentTo icd11.foundation:1766508726 microvenular haemangioma Microvenular haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvenular haemangioma MONDO:0975759 MONDO:equivalentTo icd11.foundation:1009548311 acquired elastotic haemangioma Acquired elastotic haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired elastotic haemangioma +MONDO:1010089 MONDO:equivalentTo icd11.foundation:619606071 hypomyopathic dermatomyositis Hypomyopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyopathic dermatomyositis +MONDO:1030007 MONDO:equivalentTo icd11.foundation:956687992 hypertensive urgency Hypertensive urgency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive urgency +MONDO:1030008 MONDO:equivalentTo icd11.foundation:637470326 mitral valve insufficiency Mitral valve insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitral valve insufficiency +MONDO:1030009 MONDO:equivalentTo icd11.foundation:519924384 persistent atrial fibrillation Persistent atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent atrial fibrillation MONDO:1050000 MONDO:equivalentTo icd11.foundation:1245506993 sycosis barbae Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae +MONDO:0001328 MONDO:equivalentTo NCIT:C85191 thyroid hormone resistance syndrome Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hormone resistance syndrome +MONDO:0001676 MONDO:equivalentTo NCIT:C84698 erythropoietic protoporphyria Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria +MONDO:0002688 MONDO:equivalentTo NCIT:C79548 duodenal obstruction Duodenal Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal obstruction MONDO:0003222 MONDO:equivalentTo NCIT:C4661 central nervous system melanocytic neoplasm Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma +MONDO:0005881 MONDO:equivalentTo NCIT:C92839 oligohydramnios Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios +MONDO:0006460 MONDO:equivalentTo NCIT:C85189 thyroglossal duct cyst Thyroglossal Duct Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroglossal duct cyst +MONDO:0006810 MONDO:equivalentTo NCIT:C84791 intracranial hypertension Intracranial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intracranial hypertension +MONDO:0006947 MONDO:equivalentTo NCIT:C85044 renovascular hypertension Renovascular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension +MONDO:0007710 MONDO:equivalentTo NCIT:C84703 facial hemiatrophy Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis MONDO:0015391 MONDO:equivalentTo NCIT:C202982 nasopharyngeal teratoma Nasopharyngeal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal teratoma MONDO:0017289 MONDO:equivalentTo NCIT:C190105 fetal lung interstitial tumor Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor MONDO:0019500 MONDO:equivalentTo NCIT:C189045 extragonadal teratoma Extragonadal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal teratoma MONDO:0019964 MONDO:equivalentTo NCIT:C6430 thymic neuroendocrine tumor Thymic Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine tumor +MONDO:0021141 MONDO:equivalentTo NCIT:C85869 acquired Acquired semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired +MONDO:0034212 MONDO:equivalentTo NCIT:C81194 methotrexate toxicity Methotrexate Toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity MONDO:0850112 MONDO:equivalentTo NCIT:C139012 breast implant-associated anaplastic large cell lymphoma Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma MONDO:0850154 MONDO:equivalentTo NCIT:C4824 tongue carcinoma Tongue Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue carcinoma MONDO:0850267 MONDO:equivalentTo NCIT:C7972 childhood acute megakaryoblastic leukemia Childhood Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood acute megakaryoblastic leukemia @@ -479,6 +494,10 @@ MONDO:0958300 MONDO:equivalentTo NCIT:C178461 round cell sarcoma with EWSR1-PATZ MONDO:0958301 MONDO:equivalentTo NCIT:C178462 round cell sarcoma with FUS-NFATC2 gene fusion Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion MONDO:0958302 MONDO:equivalentTo NCIT:C37210 TFEB-rearranged renal cell carcinoma TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma MONDO:0958303 MONDO:equivalentTo NCIT:C189242 childhood renal cell carcinoma with MiT translocations Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations +MONDO:0971033 MONDO:equivalentTo NCIT:C46106 intrathyroid thymic carcinoma Intrathyroid Thymic Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrathyroid thymic carcinoma +MONDO:0971034 MONDO:equivalentTo NCIT:C126408 thyroid gland cribriform morular carcinoma Thyroid Gland Cribriform Morular Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland cribriform morular carcinoma +MONDO:0971035 MONDO:equivalentTo NCIT:C46104 thyroid gland mixed medullary and follicular cell-derived carcinoma Thyroid Gland Mixed Medullary and Follicular Cell-Derived Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland mixed medullary and follicular cell-derived carcinoma +MONDO:0971036 MONDO:equivalentTo NCIT:C156267 thyroid gland mucinous carcinoma Thyroid Gland Mucinous Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland mucinous carcinoma MONDO:0971056 MONDO:equivalentTo NCIT:C176043 ocular surface squamous neoplasia Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia MONDO:0971143 MONDO:equivalentTo NCIT:C183134 pleural mesothelioma in situ Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ MONDO:0975754 MONDO:equivalentTo NCIT:C121668 pseudomyogenic hemangioendothelioma Pseudomyogenic Hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyogenic hemangioendothelioma @@ -486,36 +505,16 @@ MONDO:1040026 MONDO:equivalentTo NCIT:C3813 metastatic malignant neoplasm in the MONDO:0005641 MONDO:equivalentTo DOID:2934 aleutian mink disease aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder MONDO:0005676 MONDO:equivalentTo DOID:5154 borna disease borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder MONDO:0007744 MONDO:equivalentTo DOID:0111368 cholesterol-ester transfer protein deficiency cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0030716 MONDO:equivalentTo DOID:0070565 spermatogenic failure 66 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619799 -MONDO:0030718 MONDO:equivalentTo DOID:0070566 spermatogenic failure 67 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619803 -MONDO:0030721 MONDO:equivalentTo DOID:0070567 spermatogenic failure 68 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619805 -MONDO:0030732 MONDO:equivalentTo DOID:0070568 spermatogenic failure 69 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619826 -MONDO:0030733 MONDO:equivalentTo DOID:0070569 spermatogenic failure 70 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619828 -MONDO:0030787 MONDO:equivalentTo DOID:0070570 spermatogenic failure 71 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619831 -MONDO:0030809 MONDO:equivalentTo DOID:0070571 spermatogenic failure 72 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619867 -MONDO:0030818 MONDO:equivalentTo DOID:0070572 spermatogenic failure 73 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619878 -MONDO:0030972 MONDO:equivalentTo DOID:0070573 spermatogenic failure 74 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619937 -MONDO:0030984 MONDO:equivalentTo DOID:0070574 spermatogenic failure 75 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619949 -MONDO:0031077 MONDO:equivalentTo DOID:0070575 spermatogenic failure 76 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620084 -MONDO:0031083 MONDO:equivalentTo DOID:0070576 spermatogenic failure 77 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620103 -MONDO:0859338 MONDO:equivalentTo DOID:0070577 spermatogenic failure 78 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620170 -MONDO:0859352 MONDO:equivalentTo DOID:0070578 spermatogenic failure 79 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620196 -MONDO:0859364 MONDO:equivalentTo DOID:0070579 spermatogenic failure 80 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620222 -MONDO:0859522 MONDO:equivalentTo DOID:0070580 spermatogenic failure 81 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620277 -MONDO:0957249 MONDO:equivalentTo DOID:0070581 spermatogenic failure 82 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620353 -MONDO:0957250 MONDO:equivalentTo DOID:0070582 spermatogenic failure 83 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620354 -MONDO:0957301 MONDO:equivalentTo DOID:0070583 spermatogenic failure 84 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620409 -MONDO:0957584 MONDO:equivalentTo DOID:0070584 spermatogenic failure 85 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620490 -MONDO:0957593 MONDO:equivalentTo DOID:0070585 spermatogenic failure 86 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620499 -MONDO:0957594 MONDO:equivalentTo DOID:0070586 spermatogenic failure 87 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620500 -MONDO:0957821 MONDO:equivalentTo DOID:0070587 spermatogenic failure 88 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620547 -MONDO:0958206 MONDO:equivalentTo DOID:0070588 spermatogenic failure 89 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620705 -MONDO:0958242 MONDO:equivalentTo DOID:0070589 spermatogenic failure 90 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620744 -MONDO:0970952 MONDO:equivalentTo DOID:0070590 spermatogenic failure 91 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620838 -MONDO:0970999 MONDO:equivalentTo DOID:0070591 spermatogenic failure 92 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620848 -MONDO:0971000 MONDO:equivalentTo DOID:0070592 spermatogenic failure 93 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620849 -MONDO:0971002 MONDO:equivalentTo DOID:0070593 spermatogenic failure 94 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620850 -MONDO:0975747 MONDO:equivalentTo DOID:0070594 spermatogenic failure 95 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620917 +MONDO:0009297 MONDO:equivalentTo DOID:0070613 familial renal glucosuria familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:d006030 +MONDO:0009297 MONDO:equivalentTo DOID:0070613 familial renal glucosuria familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:233100 +MONDO:0013815 MONDO:equivalentTo DOID:0060992 bent bone dysplasia syndrome 1 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614592 +MONDO:0014406 MONDO:equivalentTo DOID:0060988 pancreatic agenesis 2 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615935 +MONDO:0014905 MONDO:equivalentTo DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617086 +MONDO:0030770 MONDO:equivalentTo DOID:0060990 congenital disorder of deglycosylation 2 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619775 +MONDO:0031376 MONDO:equivalentTo DOID:0060991 congenital disorder of deglycosylation congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation +MONDO:0100297 MONDO:equivalentTo DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617877 +MONDO:0859224 MONDO:equivalentTo DOID:0070600 intellectual disability and myopathy syndrome intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619719 +MONDO:0859573 MONDO:equivalentTo DOID:0060993 bent bone dysplasia syndrome 2 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620076 MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis @@ -1258,3 +1257,5 @@ MONDO:0850301 MONDO:equivalentTo ICD10WHO:L12 pemphigoid Pemphigoid semapv:Lexic MONDO:0859565 MONDO:equivalentTo ICD10WHO:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0956980 MONDO:equivalentTo ICD10WHO:G21.4 vascular parkinsonism Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism MONDO:0958083 MONDO:equivalentTo ICD10WHO:Q89.4 conjoined twins Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins +MONDO:1030009 MONDO:equivalentTo ICD10WHO:I48.1 persistent atrial fibrillation Persistent atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent atrial fibrillation +MONDO:1030011 MONDO:equivalentTo ICD10WHO:I48.0 paroxysmal atrial fibrillation Paroxysmal atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal atrial fibrillation diff --git a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv index 4ff66e2d..6230824b 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv @@ -2,19 +2,16 @@ subject_id subject_label object_id predicate_id object_label mapping_justificati ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0000275 obsolete monogenic disease DOID:0050177 MONDO:equivalentTo monogenic disease semapv:UnspecifiedMatching 0.5 MONDO:0000601 obsolete autoimmune disorder of urogenital tract DOID:0060049 MONDO:equivalentTo autoimmune disease of urogenital tract semapv:UnspecifiedMatching 0.5 -MONDO:0000742 obsolete persistent generalized lymphadenopathy DOID:0060314 MONDO:equivalentTo persistent generalized lymphadenopathy semapv:UnspecifiedMatching 0.5 MONDO:0000834 obsolete bone deterioration disease DOID:0080007 MONDO:equivalentTo bone deterioration disease semapv:UnspecifiedMatching 0.5 MONDO:0000839 obsolete congenital abnormality DOID:0080015 MONDO:equivalentTo physical disorder semapv:UnspecifiedMatching 0.5 MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 DOID:0080069 MONDO:equivalentTo Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching 0.5 MONDO:0001254 obsolete peripheral scars of retina DOID:11283 MONDO:equivalentTo peripheral scars of retina semapv:UnspecifiedMatching 0.5 -MONDO:0001324 obsolete hyperandrogenism DOID:11613 MONDO:equivalentTo hyperandrogenism semapv:UnspecifiedMatching 0.5 MONDO:0001467 obsolete specific bursitis often of occupational origin DOID:12223 MONDO:equivalentTo specific bursitis often of occupational origin semapv:UnspecifiedMatching 0.5 MONDO:0001679 obsolete crater-like holes of optic disk DOID:13295 MONDO:equivalentTo crater-like holes of optic disc semapv:UnspecifiedMatching 0.5 MONDO:0001693 obsolete ego-dystonic sexual orientation DOID:13352 MONDO:equivalentTo ego-dystonic sexual orientation semapv:UnspecifiedMatching 0.5 MONDO:0002324 obsolete enamel erosion DOID:2497 MONDO:equivalentTo enamel erosion semapv:UnspecifiedMatching 0.5 MONDO:0002336 obsolete inflammatory and toxic neuropathy DOID:2537 MONDO:equivalentTo inflammatory and toxic neuropathy semapv:UnspecifiedMatching 0.5 MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor DOID:4148 MONDO:equivalentTo gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching 0.5 -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma DOID:4548 MONDO:equivalentTo extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching 0.5 MONDO:0003456 obsolete bile duct mucinous cystic neoplasm DOID:5469 MONDO:equivalentTo biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching 0.5 MONDO:0003804 obsolete blood protein disease DOID:620 MONDO:equivalentTo blood protein disease semapv:UnspecifiedMatching 0.5 MONDO:0004167 obsolete lung clear cell carcinoma DOID:7267 MONDO:equivalentTo lung clear cell carcinoma semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_icd11foundation_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_icd11foundation_mondo.tsv index 66e469fb..6b4c8c89 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_icd11foundation_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_icd11foundation_mondo.tsv @@ -21,7 +21,6 @@ MONDO:0017434 obsolete syndrome with limb duplication, polydactyly, syndactyly, MONDO:0017709 obsolete disorder of lipid absorption and transport icd11.foundation:1858691234 MONDO:equivalentTo Disorders of lipid absorption or transport semapv:UnspecifiedMatching 0.5 MONDO:0017753 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation icd11.foundation:1092479335 MONDO:equivalentTo Disorders of peroxisomal alpha-, beta- or omega-oxidation semapv:UnspecifiedMatching 0.5 MONDO:0017756 obsolete disorder of pterin metabolism icd11.foundation:1801446733 MONDO:equivalentTo Disorders of pterin metabolism semapv:UnspecifiedMatching 0.5 -MONDO:0018040 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells icd11.foundation:769068598 MONDO:equivalentTo Immunodeficiencies with severe reduction in serum IgG or IgA with normal or elevated IgM and normal numbers of B-cells semapv:UnspecifiedMatching 0.5 MONDO:0018042 obsolete immunodeficiency syndrome with abnormal pigmentation icd11.foundation:2015243510 MONDO:equivalentTo Immune dysregulation syndromes with hypopigmentation semapv:UnspecifiedMatching 0.5 MONDO:0019227 obsolete inborn disorder of glycerol metabolism icd11.foundation:61192754 MONDO:equivalentTo Disorders of glycerol metabolism semapv:UnspecifiedMatching 0.5 MONDO:0019513 obsolete esophageal malformation icd11.foundation:1999264345 MONDO:equivalentTo Structural developmental anomalies of oesophagus semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv index 2fe75e2e..b0007e7a 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv @@ -1,7 +1,6 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0002063 obsolete breast papillomatosis NCIT:C6977 MONDO:equivalentTo Breast Papillomatosis semapv:UnspecifiedMatching 0.5 -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma NCIT:C27481 MONDO:equivalentTo Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching 0.5 MONDO:0003998 obsolete vaginal tubular adenoma NCIT:C40257 MONDO:equivalentTo Vaginal Tubular Adenoma semapv:UnspecifiedMatching 0.5 MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm NCIT:C37005 MONDO:equivalentTo Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching 0.5 MONDO:0006475 obsolete unclassified renal cell carcinoma NCIT:C27892 MONDO:equivalentTo Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching 0.5 @@ -12,5 +11,4 @@ MONDO:0020842 obsolete medullary carcinoma NCIT:C8998 MONDO:equivalentTo Medulla MONDO:0021059 obsolete head or neck disorder/disorder NCIT:C27571 MONDO:equivalentTo Head and Neck Disorder semapv:UnspecifiedMatching 0.5 MONDO:0021200 obsolete rare disease NCIT:C4873 MONDO:equivalentTo Rare Disorder semapv:UnspecifiedMatching 0.5 MONDO:0036491 obsolete rare childhood malignant neoplasm NCIT:C114451 MONDO:equivalentTo Rare Childhood Malignant Neoplasm semapv:UnspecifiedMatching 0.5 -MONDO:0043881 obsolete acute eosinophilic leukemia NCIT:C26813 MONDO:equivalentTo Acute Eosinophilic Leukemia semapv:UnspecifiedMatching 0.5 MONDO:0700092 neurodevelopmental disorder NCIT:C1535926 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index 24fe4659..d137bfe7 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -39,6 +39,7 @@ MONDO:0010666 obsolete Miles-Carpenter syndrome OMIM:309605 MONDO:equivalentTo MONDO:0010804 obsolete BRCATA OMIM:600048 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0010859 obsolete atrioventricular septal defect 3 OMIM:600309 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0011378 obsolete CFM1 OMIM:603855 MONDO:equivalentTo cystic fibrosis, modifier of, 1 semapv:UnspecifiedMatching 0.5 MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5 MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching 0.5 @@ -66,7 +67,10 @@ MONDO:0014978 obsolete preimplantation embryonic lethality 2 OMIM:617234 MONDO:e MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency OMIM:615057 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss OMIM:103470 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia OMIM:300537 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0020608 obsolete blood group--ahonen OMIM:110350 MONDO:equivalentTo blood group--ahonen semapv:UnspecifiedMatching 0.5 MONDO:0020609 obsolete blood group, colton system OMIM:110450 MONDO:equivalentTo blood group, colton system semapv:UnspecifiedMatching 0.5 +MONDO:0020610 obsolete blood group, diego system OMIM:110500 MONDO:equivalentTo blood group, diego system semapv:UnspecifiedMatching 0.5 +MONDO:0020611 obsolete blood group--kell system OMIM:110900 MONDO:equivalentTo blood group--kell system semapv:UnspecifiedMatching 0.5 MONDO:0020612 obsolete blood group, kidd system OMIM:111000 MONDO:equivalentTo blood group, kidd system semapv:UnspecifiedMatching 0.5 MONDO:0020613 obsolete blood group--lke OMIM:111130 MONDO:equivalentTo blood group--lke semapv:UnspecifiedMatching 0.5 MONDO:0020614 obsolete blood group--lutheran system OMIM:111200 MONDO:equivalentTo blood group--lutheran system semapv:UnspecifiedMatching 0.5 @@ -75,7 +79,12 @@ MONDO:0020616 obsolete blood group, mn OMIM:111300 MONDO:equivalentTo blood grou MONDO:0020617 obsolete blood group--ok OMIM:111380 MONDO:equivalentTo blood group--ok semapv:UnspecifiedMatching 0.5 MONDO:0020618 obsolete blood group--private systems OMIM:111500 MONDO:equivalentTo blood group--private systems semapv:UnspecifiedMatching 0.5 MONDO:0020619 obsolete blood group, langereis system OMIM:111600 MONDO:equivalentTo blood group, langereis system semapv:UnspecifiedMatching 0.5 +MONDO:0020620 obsolete blood group, ss OMIM:111740 MONDO:equivalentTo blood group, ss semapv:UnspecifiedMatching 0.5 MONDO:0020621 obsolete blood group--scianna system OMIM:111750 MONDO:equivalentTo blood group--scianna system semapv:UnspecifiedMatching 0.5 +MONDO:0020622 obsolete blood group--stoltzfus system OMIM:111800 MONDO:equivalentTo blood group--stoltzfus system semapv:UnspecifiedMatching 0.5 +MONDO:0020623 obsolete blood group--ul system OMIM:112000 MONDO:equivalentTo blood group--ul system semapv:UnspecifiedMatching 0.5 +MONDO:0020624 obsolete blood group--waldner type OMIM:112010 MONDO:equivalentTo blood group--waldner type semapv:UnspecifiedMatching 0.5 +MONDO:0020625 obsolete blood group--wright antigen OMIM:112050 MONDO:equivalentTo blood group--wright antigen semapv:UnspecifiedMatching 0.5 MONDO:0020626 obsolete yt blood group antigen OMIM:112100 MONDO:equivalentTo yt blood group antigen semapv:UnspecifiedMatching 0.5 MONDO:0020668 obsolete spastic paraplegia 5B OMIM:600146 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome OMIM:163955 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 @@ -84,10 +93,13 @@ MONDO:0024996 obsolete Usher syndrome, type 2b OMIM:276905 MONDO:equivalentTo s MONDO:0027416 obsolete retinal cone dystrophy 2 OMIM:601251 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in OMIMPS:227220 MONDO:equivalentTo Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching 0.5 MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 OMIM:618979 MONDO:equivalentTo high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching 0.5 +MONDO:0033552 obsolete blood group, lewis system OMIM:618983 MONDO:equivalentTo blood group, lewis system semapv:UnspecifiedMatching 0.5 MONDO:0044217 obsolete asparagus, specific smell hypersensitivity OMIM:108390 MONDO:equivalentTo asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching 0.5 +MONDO:0044219 obsolete blood group, duffy system OMIM:110700 MONDO:equivalentTo blood group, duffy system semapv:UnspecifiedMatching 0.5 MONDO:0044220 obsolete blood group, 1 system OMIM:110800 MONDO:equivalentTo blood group, 1 system semapv:UnspecifiedMatching 0.5 MONDO:0044221 obsolete blood group--lutheran inhibitor OMIM:111150 MONDO:equivalentTo blood group--lutheran inhibitor semapv:UnspecifiedMatching 0.5 MONDO:0044222 obsolete blood group, p1pk system OMIM:111400 MONDO:equivalentTo blood group, p1pk system semapv:UnspecifiedMatching 0.5 +MONDO:0044223 obsolete radin blood group antigen OMIM:111620 MONDO:equivalentTo radin blood group antigen semapv:UnspecifiedMatching 0.5 MONDO:0044224 obsolete apocrine gland secretion, variation 1n OMIM:117800 MONDO:equivalentTo apocrine gland secretion, variation 1n semapv:UnspecifiedMatching 0.5 MONDO:0044228 obsolete eegbqtl OMIM:130190 MONDO:equivalentTo electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching 0.5 MONDO:0044234 obsolete hrm2 OMIM:139450 MONDO:equivalentTo hair morphology 2 semapv:UnspecifiedMatching 0.5 @@ -104,14 +116,15 @@ MONDO:0044257 obsolete lutheran null OMIM:247420 MONDO:equivalentTo lutheran nul MONDO:0044259 obsolete skin/hair/eye pigmentation, variation in, 2 OMIM:266300 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 2 semapv:UnspecifiedMatching 0.5 MONDO:0044261 obsolete menoq1 OMIM:300488 MONDO:equivalentTo menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 OMIM:601816 MONDO:equivalentTo bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 +MONDO:0044271 obsolete bone mineral density quantitative trait locus 1 OMIM:601884 MONDO:equivalentTo bone mineral density quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO:0044273 obsolete hypertension, diastolic, resistance to OMIM:608622 MONDO:equivalentTo hypertension, diastolic, resistance to semapv:UnspecifiedMatching 0.5 MONDO:0044274 obsolete hemoglobin, high altitude adaptation OMIM:609070 MONDO:equivalentTo hemoglobin, high altitude adaptation semapv:UnspecifiedMatching 0.5 -MONDO:0044275 obsolete carotid intimal medial thickness 1 OMIM:609338 MONDO:equivalentTo carotid intimal medial thickness 1 semapv:UnspecifiedMatching 0.5 MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 OMIM:612271 MONDO:equivalentTo skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching 0.5 MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 OMIM:612671 MONDO:equivalentTo uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching 0.5 MONDO:0044278 obsolete short sleeper OMIMPS:612975 MONDO:equivalentTo Short sleep, familial natural semapv:UnspecifiedMatching 0.5 MONDO:0044280 obsolete glycerol quantitative trait locus OMIM:614411 MONDO:equivalentTo glycerol quantitative trait locus semapv:UnspecifiedMatching 0.5 MONDO:0044281 obsolete c3hex, ability to smell OMIM:615082 MONDO:equivalentTo c3hex, ability to smell semapv:UnspecifiedMatching 0.5 MONDO:0044282 obsolete blood group, vel system OMIM:615264 MONDO:equivalentTo blood group, vel system semapv:UnspecifiedMatching 0.5 +MONDO:0044284 obsolete blood group, gerbich system OMIM:616089 MONDO:equivalentTo blood group, gerbich system semapv:UnspecifiedMatching 0.5 MONDO:0060593 obsolete actn3 deficiency OMIM:617749 MONDO:equivalentTo actn3 deficiency semapv:UnspecifiedMatching 0.5 MONDO:0200001 obsolete chromate resistance OMIM:118840 MONDO:equivalentTo chromate resistance semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index 587a8b1d..94a32463 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -347,7 +347,6 @@ MONDO:0017651 obsolete primary myoclonus Orphanet:306750 MONDO:equivalentTo Prim MONDO:0017652 obsolete rare disease with myoclonus as a major feature Orphanet:306753 MONDO:equivalentTo Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature Orphanet:306756 MONDO:equivalentTo Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature Orphanet:306759 MONDO:equivalentTo Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 -MONDO:0017656 obsolete motor stereotypies Orphanet:306765 MONDO:equivalentTo Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO:0017657 obsolete rare paroxysmal movement disorder Orphanet:306768 MONDO:equivalentTo Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO:0017660 obsolete rare genetic parkinsonian disorder Orphanet:307052 MONDO:equivalentTo Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease Orphanet:307055 MONDO:equivalentTo Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 @@ -416,7 +415,6 @@ MONDO:0018232 obsolete primary bone dysplasia with micromelia Orphanet:364536 MO MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature Orphanet:364568 MONDO:equivalentTo Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature Orphanet:364571 MONDO:equivalentTo Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome Orphanet:369886 MONDO:equivalentTo Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 -MONDO:0018262 obsolete fetal anticonvulsant syndrome Orphanet:370068 MONDO:equivalentTo Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation Orphanet:370106 MONDO:equivalentTo Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan Orphanet:371040 MONDO:equivalentTo Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement Orphanet:371047 MONDO:equivalentTo Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv new file mode 100644 index 00000000..92b1afe2 --- /dev/null +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv @@ -0,0 +1,2 @@ +subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0030998 hearing loss, autosomal dominant 80 skos:broadMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym dfna80 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv index 6701c153..993da2c2 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv @@ -111,3 +111,5 @@ MONDO:0100443 RDH5-related retinopathy skos:broadMatch ICD10CM:H35.52 Pigmentary MONDO:0100443 RDH5-related retinopathy skos:broadMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label pigmentary retinal dystrophy LEXMATCH MONDO:0100444 RLBP1-related retinopathy skos:broadMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym pigmentary retinal dystrophy LEXMATCH MONDO:0100444 RLBP1-related retinopathy skos:broadMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label pigmentary retinal dystrophy LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:broadMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym congenital mitral insufficiency LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:broadMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label congenital mitral insufficiency LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv index 0003897c..e12fe366 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv @@ -59,3 +59,5 @@ MONDO:0021129 microphthalmia skos:broadMatch ICD10WHO:Q11.2 Microphthalmos semap MONDO:0021129 microphthalmia skos:broadMatch ICD10WHO:Q11.2 Microphthalmos semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label microphthalmos LEXMATCH MONDO:0042981 aortic valve stenosis skos:broadMatch ICD10WHO:I06.0 Rheumatic aortic stenosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym rheumatic aortic stenosis LEXMATCH MONDO:0042981 aortic valve stenosis skos:broadMatch ICD10WHO:I06.0 Rheumatic aortic stenosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label rheumatic aortic stenosis LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:broadMatch ICD10WHO:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym congenital mitral insufficiency LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:broadMatch ICD10WHO:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label congenital mitral insufficiency LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv index 9881abcf..72dd1022 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv @@ -1,12 +1,83 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:broadMatch NCIT:C126112 Infant T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym t acute lymphoblastic leukemia LEXMATCH +MONDO:0000875 adult acute monocytic leukemia skos:broadMatch NCIT:C9163 Childhood Acute Monocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym acute monocytic leukemia LEXMATCH +MONDO:0001657 brain cancer skos:broadMatch NCIT:C7703 Childhood Brain Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym brain neoplasm LEXMATCH +MONDO:0001657 brain cancer skos:broadMatch NCIT:C7710 Adult Brain Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym brain neoplasm LEXMATCH +MONDO:0002095 vascular cancer skos:broadMatch NCIT:C5348 Great Vessel Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym neoplasm of great vessel LEXMATCH +MONDO:0002214 brain germinoma skos:broadMatch NCIT:C5430 Intracranial Germinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym intracranial germinoma LEXMATCH MONDO:0002214 brain germinoma skos:broadMatch NCIT:C5430 Intracranial Germinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label intracranial germinoma LEXMATCH +MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:broadMatch NCIT:C9431 Childhood Hematopoietic and Lymphoid Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym hematopoietic neoplasm LEXMATCH +MONDO:0002358 laryngeal carcinoma skos:broadMatch NCIT:C118811 Childhood Laryngeal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym laryngeal throat cancer LEXMATCH +MONDO:0002370 ovarian Brenner tumor skos:broadMatch NCIT:C39954 Brenner Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym brenner tumor LEXMATCH +MONDO:0002370 ovarian Brenner tumor skos:broadMatch NCIT:C39954 Brenner Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label brenner tumor LEXMATCH +MONDO:0002525 inherited lipid metabolism disorder skos:broadMatch NCIT:C80385 Dyslipidemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym dyslipidemia LEXMATCH +MONDO:0002525 inherited lipid metabolism disorder skos:broadMatch NCIT:C80385 Dyslipidemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label dyslipidemia LEXMATCH +MONDO:0002681 choroid plexus cancer skos:broadMatch NCIT:C42080 Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym choroid plexus neoplasm LEXMATCH +MONDO:0002683 adult choroid plexus neoplasm skos:broadMatch NCIT:C42080 Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym choroid plexus neoplasm LEXMATCH +MONDO:0002685 childhood choroid plexus carcinoma skos:broadMatch NCIT:C42080 Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym childhood choroid plexus neoplasm LEXMATCH MONDO:0002685 childhood choroid plexus carcinoma skos:broadMatch NCIT:C42080 Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label childhood choroid plexus neoplasm LEXMATCH +MONDO:0002912 brainstem cancer skos:broadMatch NCIT:C4975 Primary Brain Stem Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym primary brain stem neoplasm LEXMATCH +MONDO:0002912 brainstem cancer skos:broadMatch NCIT:C4975 Primary Brain Stem Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym primary brain stem tumor LEXMATCH MONDO:0002912 brainstem cancer skos:broadMatch NCIT:C4975 Primary Brain Stem Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label primary brain stem neoplasm LEXMATCH +MONDO:0003022 pediatric angiosarcoma skos:broadMatch NCIT:C9040 Adult Angiosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym angiosarcoma LEXMATCH +MONDO:0003057 pediatric meningioma skos:broadMatch NCIT:C9093 Adult Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym meningioma LEXMATCH +MONDO:0003478 childhood ependymoma skos:broadMatch NCIT:C9092 Adult Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym ependymoma LEXMATCH +MONDO:0003516 adult teratoma skos:broadMatch NCIT:C68626 Childhood Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym teratoma LEXMATCH +MONDO:0003544 spinal cord cancer skos:broadMatch NCIT:C3382 Intraspinal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym intraspinal tumor LEXMATCH +MONDO:0003690 adult anaplastic ependymoma skos:broadMatch NCIT:C124293 Childhood Anaplastic Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym anaplastic ependymoma LEXMATCH +MONDO:0003741 juvenile type testicular granulosa cell tumor skos:broadMatch NCIT:C4207 Juvenile Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym juvenile granulosa cell tumor LEXMATCH +MONDO:0003741 juvenile type testicular granulosa cell tumor skos:broadMatch NCIT:C4207 Juvenile Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym juvenile type granulosa cell neoplasm LEXMATCH +MONDO:0003741 juvenile type testicular granulosa cell tumor skos:broadMatch NCIT:C4207 Juvenile Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym juvenile type granulosa cell tumor LEXMATCH MONDO:0003741 juvenile type testicular granulosa cell tumor skos:broadMatch NCIT:C4207 Juvenile Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label juvenile granulosa cell tumor LEXMATCH -MONDO:0003945 bone epithelioid hemangioma skos:broadMatch NCIT:C6477 Bone Hemangioma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label bone hemangioma LEXMATCH +MONDO:0003957 adult pineoblastoma skos:broadMatch NCIT:C114812 Childhood Pineoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym pineoblastoma LEXMATCH +MONDO:0004000 childhood pilocytic astrocytoma skos:broadMatch NCIT:C71016 Adult Pilocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym pilocytic astrocytoma LEXMATCH +MONDO:0004180 benign urinary system neoplasm skos:broadMatch NCIT:C192666 Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym urinary tract neoplasm LEXMATCH MONDO:0004180 benign urinary system neoplasm skos:broadMatch NCIT:C192666 Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label urinary tract neoplasm LEXMATCH +MONDO:0004249 pediatric supratentorial ependymoma skos:broadMatch NCIT:C186343 Supratentorial Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym supratentorial ependymoma LEXMATCH MONDO:0004249 pediatric supratentorial ependymoma skos:broadMatch NCIT:C186343 Supratentorial Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label supratentorial ependymoma LEXMATCH +MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:broadMatch NCIT:C115203 Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym embryonal tumor with multilayered rosettes, c19mc-altered LEXMATCH +MONDO:0004344 childhood malignant hemangiopericytoma skos:broadMatch NCIT:C6894 Malignant Solitary Fibrous Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym malignant hemangiopericytoma LEXMATCH +MONDO:0004352 adult brain ependymoma skos:broadMatch NCIT:C156462 Brain Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym brain ependymoma LEXMATCH MONDO:0004352 adult brain ependymoma skos:broadMatch NCIT:C156462 Brain Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label brain ependymoma LEXMATCH +MONDO:0004950 gastric carcinoma skos:broadMatch NCIT:C118813 Childhood Gastric Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym gastric (stomach) cancer LEXMATCH +MONDO:0004989 breast carcinoma skos:broadMatch NCIT:C118809 Childhood Breast Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym breast cancer LEXMATCH +MONDO:0004996 childhood acute myeloid leukemia skos:broadMatch NCIT:C9154 Adult Acute Myeloid Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym acute myeloid leukemia (aml) LEXMATCH +MONDO:0005192 exocrine pancreatic carcinoma skos:broadMatch NCIT:C91446 Pancreatic Cancer Pathway semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym pancreatic cancer LEXMATCH +MONDO:0005522 small intestine carcinoma skos:broadMatch NCIT:C123933 Childhood Small Intestinal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym small intestinal cancer LEXMATCH +MONDO:0005872 nervous system cancer skos:broadMatch NCIT:C35562 Neuroepithelial, Perineurial, and Schwann Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym neural neoplasm LEXMATCH +MONDO:0005872 nervous system cancer skos:broadMatch NCIT:C35562 Neuroepithelial, Perineurial, and Schwann Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym neural tumor LEXMATCH +MONDO:0006173 conjunctival squamous cell carcinoma skos:broadMatch NCIT:C176043 Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym ocular surface squamous neoplasia LEXMATCH MONDO:0006173 conjunctival squamous cell carcinoma skos:broadMatch NCIT:C176043 Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label ocular surface squamous neoplasia LEXMATCH +MONDO:0006275 lung giant cell carcinoma skos:broadMatch NCIT:C3779 Giant Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym giant cell carcinoma LEXMATCH MONDO:0006275 lung giant cell carcinoma skos:broadMatch NCIT:C3779 Giant Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label giant cell carcinoma LEXMATCH +MONDO:0006360 penile carcinoma skos:broadMatch NCIT:C118820 Adult Penile Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym penile cancer LEXMATCH +MONDO:0007365 seizures, benign familial neonatal, 1 skos:broadMatch NCIT:C84911 Myokymia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym myokymia LEXMATCH +MONDO:0007365 seizures, benign familial neonatal, 1 skos:broadMatch NCIT:C84911 Myokymia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label myokymia LEXMATCH +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:broadMatch NCIT:C84704 Facioscapulohumeral Muscular Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy LEXMATCH +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:broadMatch NCIT:C84704 Facioscapulohumeral Muscular Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label facioscapulohumeral muscular dystrophy LEXMATCH +MONDO:0008274 polyostotic fibrous dysplasia skos:broadMatch NCIT:C34609 Fibrous Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym fibrous dysplasia of bone LEXMATCH +MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:broadMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym thyroid hormone resistance LEXMATCH +MONDO:0009773 odonto-onycho-dermal dysplasia skos:broadMatch NCIT:C84683 Ectodermal Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym ectodermal dysplasia LEXMATCH +MONDO:0009773 odonto-onycho-dermal dysplasia skos:broadMatch NCIT:C84683 Ectodermal Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label ectodermal dysplasia LEXMATCH +MONDO:0011789 familial meningioma skos:broadMatch NCIT:C9093 Adult Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym meningioma LEXMATCH +MONDO:0015075 thyroid gland carcinoma skos:broadMatch NCIT:C118827 Childhood Thyroid Gland Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym thyroid gland cancer LEXMATCH +MONDO:0016695 oligodendroglioma skos:broadMatch NCIT:C68691 Adult Oligodendroglial Tumor semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym oligodendroglial tumor LEXMATCH +MONDO:0017282 alveolar echinococcosis skos:broadMatch NCIT:C84682 Echinococcosis semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym echinococcosis LEXMATCH +MONDO:0017282 alveolar echinococcosis skos:broadMatch NCIT:C84682 Echinococcosis semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label echinococcosis LEXMATCH +MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:broadMatch NCIT:C7711 Adult Liver Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym liver cancer LEXMATCH +MONDO:0018944 gestational trophoblastic neoplasm skos:broadMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym gestational trophoblastic disorder LEXMATCH MONDO:0018944 gestational trophoblastic neoplasm skos:broadMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label gestational trophoblastic disorder LEXMATCH +MONDO:0019015 omphalocele skos:broadMatch NCIT:C84725 Gastroschisis semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym eventration LEXMATCH +MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma skos:broadMatch NCIT:C8060 Childhood Nodular Lymphocyte Predominant B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym nodular lymphocyte predominant hodgkin lymphoma LEXMATCH +MONDO:0020690 adult glioblastoma skos:broadMatch NCIT:C5136 Childhood Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym glioblastoma LEXMATCH +MONDO:0024331 colorectal carcinoma skos:broadMatch NCIT:C118808 Childhood Colorectal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym colorectal (colon or rectal) cancer LEXMATCH +MONDO:0024621 serous cystadenocarcinoma skos:broadMatch NCIT:C40101 Serous Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym serous adenocarcinoma LEXMATCH +MONDO:0024621 serous cystadenocarcinoma skos:broadMatch NCIT:C40101 Serous Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label serous adenocarcinoma LEXMATCH +MONDO:0044873 childhood myelodysplastic syndrome skos:broadMatch NCIT:C115153 Adult Myelodysplastic Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym myelodysplastic syndrome LEXMATCH +MONDO:0044937 rectal carcinoma skos:broadMatch NCIT:C118823 Childhood Rectal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym rectal cancer LEXMATCH +MONDO:0100042 cardiac conduction defect skos:broadMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym cardiac conduction disorder LEXMATCH +MONDO:0100042 cardiac conduction defect skos:broadMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym disorder of cardiac conduction LEXMATCH +MONDO:0100042 cardiac conduction defect skos:broadMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym heart conduction disorder LEXMATCH +MONDO:0100042 cardiac conduction defect skos:broadMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label cardiac conduction disorder LEXMATCH +MONDO:0100340 Friedreich ataxia 1 skos:broadMatch NCIT:C84718 Friedreich Ataxia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym friedreich ataxia LEXMATCH +MONDO:0100340 Friedreich ataxia 1 skos:broadMatch NCIT:C84718 Friedreich Ataxia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label friedreich ataxia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index 391c0055..18e746c3 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -23,7 +23,35 @@ MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatc MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101800 LEXMATCH MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:101800 LEXMATCH MONDO:0008227 peripheral dysostosis skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2015 LEXMATCH +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch DOID:0060987 preaxial polydactyly I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:4417 LEXMATCH +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch DOID:0060987 preaxial polydactyly I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174400 LEXMATCH +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch DOID:0060987 preaxial polydactyly I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:174400 LEXMATCH +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch DOID:0060987 preaxial polydactyly I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174400 LEXMATCH +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch DOID:0060987 preaxial polydactyly I semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:174400 LEXMATCH +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch DOID:0060987 preaxial polydactyly I semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:174400 LEXMATCH +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch DOID:0060986 preaxial polydactyly II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5289 LEXMATCH +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch DOID:0060986 preaxial polydactyly II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 LEXMATCH +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch DOID:0060986 preaxial polydactyly II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:174500 LEXMATCH +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch DOID:0060986 preaxial polydactyly II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174500 LEXMATCH +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch DOID:0060986 preaxial polydactyly II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:174500 LEXMATCH +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch DOID:0060986 preaxial polydactyly II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:174500 LEXMATCH +MONDO:0008272 polysyndactyly 4 skos:closeMatch DOID:0060985 preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174700 LEXMATCH +MONDO:0008272 polysyndactyly 4 skos:closeMatch DOID:0060985 preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:174700 LEXMATCH +MONDO:0008272 polysyndactyly 4 skos:closeMatch DOID:0060985 preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crossed polydactyly type 1 LEXMATCH +MONDO:0008272 polysyndactyly 4 skos:closeMatch DOID:0060985 preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174700 LEXMATCH +MONDO:0008272 polysyndactyly 4 skos:closeMatch DOID:0060985 preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:174700 LEXMATCH +MONDO:0008272 polysyndactyly 4 skos:closeMatch DOID:0060985 preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:174700 LEXMATCH MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasExactSynonym oio:hasRelatedSynonym dysequilibrium syndrome LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:7548 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006030 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233100 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:7548 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d006030 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:233100 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d006030 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233100 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:233100 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:233100 LEXMATCH MONDO:0009727 atelosteogenesis type II skos:closeMatch DOID:14687 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q77.5 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:4552 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 LEXMATCH @@ -34,9 +62,24 @@ MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeM MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:276950 LEXMATCH +MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 LEXMATCH +MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614592 LEXMATCH +MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614592 LEXMATCH +MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614592 LEXMATCH +MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614592 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614613 LEXMATCH +MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615935 LEXMATCH +MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615935 LEXMATCH +MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615935 LEXMATCH +MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615935 LEXMATCH +MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615935 LEXMATCH +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617086 LEXMATCH +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617086 LEXMATCH +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617086 LEXMATCH +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617086 LEXMATCH +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617086 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0018638 pseudohypoaldosteronism skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 LEXMATCH @@ -49,71 +92,51 @@ MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russel MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:180860 LEXMATCH MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym dysequilibrium syndrome LEXMATCH -MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301077 LEXMATCH -MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301077 LEXMATCH -MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301077 LEXMATCH -MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301077 LEXMATCH -MONDO:0024773 spermatogenic failure, X-linked, 4 skos:closeMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301077 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619799 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619799 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619799 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619799 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:closeMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619799 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619803 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619803 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619803 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619803 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:closeMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619803 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619805 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619805 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619805 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619805 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:closeMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619805 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619826 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619826 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619826 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619826 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:closeMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619826 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619828 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619828 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619828 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619828 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:closeMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619828 LEXMATCH -MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619831 LEXMATCH -MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619831 LEXMATCH -MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619831 LEXMATCH -MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619831 LEXMATCH -MONDO:0030787 spermatogenic failure 71 skos:closeMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619831 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619867 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619867 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619867 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619867 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:closeMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619867 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619878 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619878 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619878 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619878 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:closeMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619878 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619937 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619937 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619937 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619937 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:closeMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619937 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619949 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619949 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619949 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619949 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:closeMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619949 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620084 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620084 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620084 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620084 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:closeMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620084 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620103 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620103 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620103 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620103 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:closeMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620103 LEXMATCH +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619500 LEXMATCH +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619500 LEXMATCH +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619500 LEXMATCH +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619500 LEXMATCH +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619500 LEXMATCH +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619804 LEXMATCH +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619804 LEXMATCH +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619804 LEXMATCH +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619804 LEXMATCH +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619804 LEXMATCH +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619808 LEXMATCH +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619808 LEXMATCH +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619808 LEXMATCH +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619808 LEXMATCH +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619808 LEXMATCH +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619810 LEXMATCH +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619810 LEXMATCH +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619810 LEXMATCH +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619810 LEXMATCH +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619810 LEXMATCH +MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619775 LEXMATCH +MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619775 LEXMATCH +MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619775 LEXMATCH +MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619775 LEXMATCH +MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619775 LEXMATCH +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 LEXMATCH +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619274 LEXMATCH +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619274 LEXMATCH +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619274 LEXMATCH +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619274 LEXMATCH +MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch DOID:0060984 digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620040 LEXMATCH +MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch DOID:0060984 digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620040 LEXMATCH +MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch DOID:0060984 digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620040 LEXMATCH +MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch DOID:0060984 digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620040 LEXMATCH +MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch DOID:0060984 digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620040 LEXMATCH +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618533 LEXMATCH +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618533 LEXMATCH +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618533 LEXMATCH +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618533 LEXMATCH +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618533 LEXMATCH +MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617877 LEXMATCH +MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617877 LEXMATCH +MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617877 LEXMATCH +MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617877 LEXMATCH +MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617877 LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8609 LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:j84.112 LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 LEXMATCH @@ -124,118 +147,50 @@ MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:clos MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:243150 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620170 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620170 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620170 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620170 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:closeMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620170 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620196 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620196 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620196 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620196 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:closeMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620196 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620222 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620222 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620222 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620222 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:closeMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620222 LEXMATCH -MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301099 LEXMATCH -MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301099 LEXMATCH -MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301099 LEXMATCH -MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301099 LEXMATCH -MONDO:0859477 spermatogenic failure, X-linked, 5 skos:closeMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301099 LEXMATCH -MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301101 LEXMATCH -MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301101 LEXMATCH -MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301101 LEXMATCH -MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301101 LEXMATCH -MONDO:0859478 spermatogenic failure, X-linked, 6 skos:closeMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301101 LEXMATCH -MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620277 LEXMATCH -MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620277 LEXMATCH -MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620277 LEXMATCH -MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620277 LEXMATCH -MONDO:0859522 spermatogenic failure 81 skos:closeMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620277 LEXMATCH -MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301106 LEXMATCH -MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301106 LEXMATCH -MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301106 LEXMATCH -MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301106 LEXMATCH -MONDO:0957202 spermatogenic failure, X-linked, 7 skos:closeMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301106 LEXMATCH -MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620353 LEXMATCH -MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620353 LEXMATCH -MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620353 LEXMATCH -MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620353 LEXMATCH -MONDO:0957249 spermatogenic failure 82 skos:closeMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620353 LEXMATCH -MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620354 LEXMATCH -MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620354 LEXMATCH -MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620354 LEXMATCH -MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620354 LEXMATCH -MONDO:0957250 spermatogenic failure 83 skos:closeMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620354 LEXMATCH -MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620409 LEXMATCH -MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620409 LEXMATCH -MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620409 LEXMATCH -MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620409 LEXMATCH -MONDO:0957301 spermatogenic failure 84 skos:closeMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620409 LEXMATCH +MONDO:0859224 intellectual disability and myopathy syndrome skos:closeMatch DOID:0070600 intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619719 LEXMATCH +MONDO:0859224 intellectual disability and myopathy syndrome skos:closeMatch DOID:0070600 intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619719 LEXMATCH +MONDO:0859224 intellectual disability and myopathy syndrome skos:closeMatch DOID:0070600 intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619719 LEXMATCH +MONDO:0859224 intellectual disability and myopathy syndrome skos:closeMatch DOID:0070600 intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619719 LEXMATCH +MONDO:0859224 intellectual disability and myopathy syndrome skos:closeMatch DOID:0070600 intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619719 LEXMATCH +MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch DOID:0070605 autosomal dominant nonsyndromic deafness 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620227 LEXMATCH +MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch DOID:0070605 autosomal dominant nonsyndromic deafness 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620227 LEXMATCH +MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch DOID:0070605 autosomal dominant nonsyndromic deafness 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620227 LEXMATCH +MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch DOID:0070605 autosomal dominant nonsyndromic deafness 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620227 LEXMATCH +MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch DOID:0070605 autosomal dominant nonsyndromic deafness 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620227 LEXMATCH +MONDO:0859524 hearing loss, autosomal dominant 86 skos:closeMatch DOID:0070610 autosomal dominant nonsyndromic deafness 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620280 LEXMATCH +MONDO:0859524 hearing loss, autosomal dominant 86 skos:closeMatch DOID:0070610 autosomal dominant nonsyndromic deafness 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620280 LEXMATCH +MONDO:0859524 hearing loss, autosomal dominant 86 skos:closeMatch DOID:0070610 autosomal dominant nonsyndromic deafness 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620280 LEXMATCH +MONDO:0859524 hearing loss, autosomal dominant 86 skos:closeMatch DOID:0070610 autosomal dominant nonsyndromic deafness 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620280 LEXMATCH +MONDO:0859524 hearing loss, autosomal dominant 86 skos:closeMatch DOID:0070610 autosomal dominant nonsyndromic deafness 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620280 LEXMATCH +MONDO:0859525 hearing loss, autosomal dominant 87 skos:closeMatch DOID:0070606 autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620281 LEXMATCH +MONDO:0859525 hearing loss, autosomal dominant 87 skos:closeMatch DOID:0070606 autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620281 LEXMATCH +MONDO:0859525 hearing loss, autosomal dominant 87 skos:closeMatch DOID:0070606 autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620281 LEXMATCH +MONDO:0859525 hearing loss, autosomal dominant 87 skos:closeMatch DOID:0070606 autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620281 LEXMATCH +MONDO:0859525 hearing loss, autosomal dominant 87 skos:closeMatch DOID:0070606 autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620281 LEXMATCH +MONDO:0859527 hearing loss, autosomal dominant 88 skos:closeMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620283 LEXMATCH +MONDO:0859527 hearing loss, autosomal dominant 88 skos:closeMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620283 LEXMATCH +MONDO:0859527 hearing loss, autosomal dominant 88 skos:closeMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620283 LEXMATCH +MONDO:0859527 hearing loss, autosomal dominant 88 skos:closeMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620283 LEXMATCH +MONDO:0859527 hearing loss, autosomal dominant 88 skos:closeMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620283 LEXMATCH +MONDO:0859528 hearing loss, autosomal dominant 89 skos:closeMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620284 LEXMATCH +MONDO:0859528 hearing loss, autosomal dominant 89 skos:closeMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620284 LEXMATCH +MONDO:0859528 hearing loss, autosomal dominant 89 skos:closeMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620284 LEXMATCH +MONDO:0859528 hearing loss, autosomal dominant 89 skos:closeMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620284 LEXMATCH +MONDO:0859528 hearing loss, autosomal dominant 89 skos:closeMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620284 LEXMATCH +MONDO:0859573 bent bone dysplasia syndrome 2 skos:closeMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620076 LEXMATCH +MONDO:0859573 bent bone dysplasia syndrome 2 skos:closeMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620076 LEXMATCH +MONDO:0859573 bent bone dysplasia syndrome 2 skos:closeMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620076 LEXMATCH +MONDO:0859573 bent bone dysplasia syndrome 2 skos:closeMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620076 LEXMATCH +MONDO:0859573 bent bone dysplasia syndrome 2 skos:closeMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620076 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch skos:exactMatch mesh:d001890 LEXMATCH -MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620490 LEXMATCH -MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620490 LEXMATCH -MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620490 LEXMATCH -MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620490 LEXMATCH -MONDO:0957584 spermatogenic failure 85 skos:closeMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620490 LEXMATCH -MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620499 LEXMATCH -MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620499 LEXMATCH -MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620499 LEXMATCH -MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620499 LEXMATCH -MONDO:0957593 spermatogenic failure 86 skos:closeMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620499 LEXMATCH -MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620500 LEXMATCH -MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620500 LEXMATCH -MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620500 LEXMATCH -MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620500 LEXMATCH -MONDO:0957594 spermatogenic failure 87 skos:closeMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620500 LEXMATCH -MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620547 LEXMATCH -MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620547 LEXMATCH -MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620547 LEXMATCH -MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620547 LEXMATCH -MONDO:0957821 spermatogenic failure 88 skos:closeMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620547 LEXMATCH -MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620705 LEXMATCH -MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620705 LEXMATCH -MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620705 LEXMATCH -MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620705 LEXMATCH -MONDO:0958206 spermatogenic failure 89 skos:closeMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620705 LEXMATCH -MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620744 LEXMATCH -MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620744 LEXMATCH -MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620744 LEXMATCH -MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620744 LEXMATCH -MONDO:0958242 spermatogenic failure 90 skos:closeMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620744 LEXMATCH -MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301119 LEXMATCH -MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301119 LEXMATCH -MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301119 LEXMATCH -MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301119 LEXMATCH -MONDO:0970943 spermatogenic failure, x-linked, 8 skos:closeMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301119 LEXMATCH -MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620838 LEXMATCH -MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620838 LEXMATCH -MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620838 LEXMATCH -MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620838 LEXMATCH -MONDO:0970952 spermatogenic failure 91 skos:closeMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620838 LEXMATCH -MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620848 LEXMATCH -MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620848 LEXMATCH -MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620848 LEXMATCH -MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620848 LEXMATCH -MONDO:0970999 spermatogenic failure 92 skos:closeMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620848 LEXMATCH -MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620849 LEXMATCH -MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620849 LEXMATCH -MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620849 LEXMATCH -MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620849 LEXMATCH -MONDO:0971000 spermatogenic failure 93 skos:closeMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620849 LEXMATCH -MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620850 LEXMATCH -MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620850 LEXMATCH -MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620850 LEXMATCH -MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620850 LEXMATCH -MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620850 LEXMATCH -MONDO:0975747 spermatogenic failure 95 skos:closeMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620917 LEXMATCH -MONDO:0975747 spermatogenic failure 95 skos:closeMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620917 LEXMATCH -MONDO:0975747 spermatogenic failure 95 skos:closeMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620917 LEXMATCH +MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620722 LEXMATCH +MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620722 LEXMATCH +MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620722 LEXMATCH +MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620722 LEXMATCH +MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620722 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d000453 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index bd46957e..2ca33c87 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -384,8 +384,6 @@ MONDO:0001282 fallopian tube endometriosis skos:closeMatch ICD10CM:N80.2 Endomet MONDO:0001282 fallopian tube endometriosis skos:closeMatch ICD10CM:N80.2 Endometriosis of fallopian tube semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11424 LEXMATCH MONDO:0001294 Horner syndrome skos:closeMatch ICD10CM:G90.2 Horner's syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11486 LEXMATCH MONDO:0001294 Horner syndrome skos:closeMatch ICD10CM:G90.2 Horner's syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11486 LEXMATCH -MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11502 LEXMATCH -MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11502 LEXMATCH MONDO:0001302 hypertensive heart disease skos:closeMatch ICD10CM:I11 Hypertensive heart disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11516 LEXMATCH MONDO:0001302 hypertensive heart disease skos:closeMatch ICD10CM:I11 Hypertensive heart disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11516 LEXMATCH MONDO:0001303 abnormal pupillary function skos:closeMatch ICD10CM:H57.09 Other anomalies of pupillary function semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11518 LEXMATCH @@ -3234,6 +3232,8 @@ MONDO:0009294 glycogen storage disease VI skos:closeMatch ICD10CM:E74.09 Other g MONDO:0009295 glycogen storage disease VII skos:closeMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11721 LEXMATCH MONDO:0009295 glycogen storage disease VII skos:closeMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle phosphofructokinase deficiency LEXMATCH MONDO:0009295 glycogen storage disease VII skos:closeMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11721 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch ICD10CM:E74.818 Other disorders of glucose transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE doid:9432 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:closeMatch ICD10CM:E74.818 Other disorders of glucose transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:broadMatch-INVERSE doid:9432 LEXMATCH MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch ICD10CM:M31.0 Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:9808 LEXMATCH MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch ICD10CM:M31.0 Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:9808 LEXMATCH MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch ICD10CM:G23.0 Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3981 LEXMATCH @@ -6223,3 +6223,7 @@ MONDO:0850223 Libman-Sacks endocarditis skos:closeMatch ICD10CM:M32.11 Endocardi MONDO:0850223 Libman-Sacks endocarditis skos:closeMatch ICD10CM:M32.11 Endocarditis in systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0080740 LEXMATCH MONDO:0851100 malignant olfactory nerve neoplasm skos:closeMatch ICD10CM:C72.2 Malignant neoplasm of olfactory nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:370 LEXMATCH MONDO:0851100 malignant olfactory nerve neoplasm skos:closeMatch ICD10CM:C72.2 Malignant neoplasm of olfactory nerve semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:370 LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:closeMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11502 LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:closeMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11502 LEXMATCH +MONDO:1030010 precerebral artery stenosis skos:closeMatch ICD10CM:I65 Occlusion and stenosis of precerebral arteries, not resulting in cerebral infarction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:1030010 LEXMATCH +MONDO:1030010 precerebral artery stenosis skos:closeMatch ICD10CM:I65 Occlusion and stenosis of precerebral arteries, not resulting in cerebral infarction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:relatedMatch-INVERSE mondo:1030010 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv index d9480a3e..dab3af79 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv @@ -58,8 +58,6 @@ MONDO:0001238 polycythemia neonatorum skos:closeMatch icd11.foundation:819483525 MONDO:0001262 African histoplasmosis skos:closeMatch icd11.foundation:796074678 Infection due to Histoplasma duboisii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histoplasma duboisii infection LEXMATCH MONDO:0001262 African histoplasmosis skos:closeMatch icd11.foundation:796074678 Infection due to Histoplasma duboisii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym large form histoplasmosis LEXMATCH MONDO:0001294 Horner syndrome skos:closeMatch icd11.foundation:1159758008 Horner syndrome, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bernard-horner syndrome LEXMATCH -MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch icd11.foundation:637470326 Mitral valve insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve insufficiency LEXMATCH -MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch icd11.foundation:637470326 Mitral valve insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve insufficiency LEXMATCH MONDO:0001302 hypertensive heart disease skos:closeMatch icd11.foundation:1208029865 Hypertensive heart disease without heart failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertensive cardiopathy LEXMATCH MONDO:0001302 hypertensive heart disease skos:closeMatch icd11.foundation:1208029865 Hypertensive heart disease without heart failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertensive cardiovascular disorder LEXMATCH MONDO:0001405 dermatophytosis of groin and perianal area skos:closeMatch icd11.foundation:350028235 Genitocrural dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tinea cruris LEXMATCH @@ -1705,3 +1703,7 @@ MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch ic MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch icd11.foundation:1574637700 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome LEXMATCH MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch icd11.foundation:1823072890 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarioleukodystrophy LEXMATCH MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch icd11.foundation:1823072890 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:closeMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym congenital insufficiency of mitral valve LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:closeMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym congenital mitral insufficiency LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:closeMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym congenital mitral regurgitation LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:closeMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label congenital mitral regurgitation LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv index 44296b4a..b55bd4b6 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv @@ -1,76 +1,386 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6017 Paranasal Sinus Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paranasal sinus adenocarcinoma LEXMATCH MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6017 Paranasal Sinus Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenocarcinoma LEXMATCH +MONDO:0000402 small cell carcinoma skos:closeMatch NCIT:C4099 Small Cell Intermediate Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small cell carcinoma, intermediate cell LEXMATCH MONDO:0000402 small cell carcinoma skos:closeMatch NCIT:C4099 Small Cell Intermediate Cell Carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000402 LEXMATCH MONDO:0000402 small cell carcinoma skos:closeMatch NCIT:C4099 Small Cell Intermediate Cell Carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:relatedMatch-INVERSE mondo:0000402 LEXMATCH +MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal alcohol syndrome LEXMATCH +MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous cell carcinoma in situ of lung LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous cell carcinoma in situ of the lung LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung adenosquamous cell carcinoma in situ LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stage type 0 adenosquamous cell carcinoma of lung LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stage type 0 adenosquamous cell carcinoma of the lung LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stage type 0 adenosquamous cell lung carcinoma LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stage type 0 adenosquamous lung cancer LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stage type 0 adenosquamous lung carcinoma ajcc v6 LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stage type 0 adenosquamous lung carcinoma ajcc v7 LEXMATCH MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000503 LEXMATCH MONDO:0000503 lung adenocarcinoma in situ skos:closeMatch NCIT:C8748 Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:relatedMatch-INVERSE mondo:0000503 LEXMATCH +MONDO:0000709 Crohn ileitis skos:closeMatch NCIT:C84782 Ileitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ileitis LEXMATCH +MONDO:0000709 Crohn ileitis skos:closeMatch NCIT:C84782 Ileitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileitis LEXMATCH +MONDO:0001046 imperforate anus skos:closeMatch NCIT:C78173 Anal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anal stenosis LEXMATCH +MONDO:0001046 imperforate anus skos:closeMatch NCIT:C78173 Anal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal stenosis LEXMATCH +MONDO:0001105 renal hypertension skos:closeMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym renovascular hypertension LEXMATCH +MONDO:0001105 renal hypertension skos:closeMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label renovascular hypertension LEXMATCH +MONDO:0001209 common wart skos:closeMatch NCIT:C5028 Verrucous Lesion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wart LEXMATCH +MONDO:0001246 typhus skos:closeMatch NCIT:C84688 Endemic Typhus Fever semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym endemic flea-borne typhus LEXMATCH +MONDO:0001246 typhus skos:closeMatch NCIT:C84688 Endemic Typhus Fever semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym endemic typhus fever LEXMATCH +MONDO:0001246 typhus skos:closeMatch NCIT:C84688 Endemic Typhus Fever semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label endemic typhus fever LEXMATCH +MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym epidemic louse-borne typhus LEXMATCH +MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epidemic louse-borne typhus LEXMATCH +MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult malignant brain neoplasm LEXMATCH +MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of adult brain LEXMATCH MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm LEXMATCH +MONDO:0001657 brain cancer skos:closeMatch NCIT:C7710 Adult Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult brain tumor LEXMATCH +MONDO:0002038 head and neck carcinoma skos:closeMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym carcinoma of the neck LEXMATCH +MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5380 Malignant Pulmonary Artery Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of pulmonary artery LEXMATCH +MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5383 Malignant Pulmonary Vein Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of pulmonary vein LEXMATCH +MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leiomyosarcoma of the renal vein LEXMATCH +MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal vein leiomyosarcoma LEXMATCH MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal vein leiomyosarcoma LEXMATCH +MONDO:0002251 hepatitis skos:closeMatch NCIT:C35331 Acute Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acute hepatitis LEXMATCH +MONDO:0002251 hepatitis skos:closeMatch NCIT:C35331 Acute Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatitis LEXMATCH +MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:closeMatch NCIT:C116915 Liquid Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym blood cancer LEXMATCH +MONDO:0002370 ovarian Brenner tumor skos:closeMatch NCIT:C4746 Benign Ovarian Brenner Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign ovarian brenner tumor LEXMATCH MONDO:0002370 ovarian Brenner tumor skos:closeMatch NCIT:C4746 Benign Ovarian Brenner Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign ovarian brenner tumor LEXMATCH +MONDO:0002380 myoepithelial tumor skos:closeMatch NCIT:C7442 Benign Myoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign myoepithelioma LEXMATCH MONDO:0002380 myoepithelial tumor skos:closeMatch NCIT:C7442 Benign Myoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign myoepithelioma LEXMATCH +MONDO:0002407 capillary hemangioma skos:closeMatch NCIT:C6645 Infantile Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym infantile hemangioma LEXMATCH +MONDO:0002407 capillary hemangioma skos:closeMatch NCIT:C6645 Infantile Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym juvenile hemangioma LEXMATCH MONDO:0002407 capillary hemangioma skos:closeMatch NCIT:C6645 Infantile Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile hemangioma LEXMATCH +MONDO:0002477 prostate neuroendocrine neoplasm skos:closeMatch NCIT:C158912 Prostate Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate neuroendocrine carcinoma LEXMATCH MONDO:0002477 prostate neuroendocrine neoplasm skos:closeMatch NCIT:C158912 Prostate Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prostate neuroendocrine carcinoma LEXMATCH +MONDO:0002512 papillary adenocarcinoma skos:closeMatch NCIT:C7438 Invasive Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym infiltrating papillary adenocarcinoma LEXMATCH +MONDO:0002543 adult oligodendroglioma skos:closeMatch NCIT:C9376 Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult brain oligodendroglioma LEXMATCH MONDO:0002543 adult oligodendroglioma skos:closeMatch NCIT:C9376 Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult brain oligodendroglioma LEXMATCH +MONDO:0002786 diencephalic cancer skos:closeMatch NCIT:C5125 Diencephalic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diencephalic neoplasm LEXMATCH MONDO:0002786 diencephalic cancer skos:closeMatch NCIT:C5125 Diencephalic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diencephalic neoplasm LEXMATCH +MONDO:0002804 apocrine adenoma skos:closeMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym tubular apocrine adenoma LEXMATCH MONDO:0002804 apocrine adenoma skos:closeMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tubular apocrine adenoma LEXMATCH +MONDO:0002928 carcinosarcoma skos:closeMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mixed mullerian tumor LEXMATCH +MONDO:0002954 superficial multifocal basal cell carcinoma skos:closeMatch NCIT:C62284 Superficial Basal Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym superficial basal cell carcinoma LEXMATCH MONDO:0002954 superficial multifocal basal cell carcinoma skos:closeMatch NCIT:C62284 Superficial Basal Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label superficial basal cell carcinoma LEXMATCH +MONDO:0002999 central nervous system germinoma skos:closeMatch NCIT:C5430 Intracranial Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intracranial germinoma LEXMATCH MONDO:0002999 central nervous system germinoma skos:closeMatch NCIT:C5430 Intracranial Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial germinoma LEXMATCH +MONDO:0003202 pituitary gland basophilic carcinoma skos:closeMatch NCIT:C4150 Basophilic Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basophilic carcinoma LEXMATCH +MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:closeMatch NCIT:C40063 Ovarian Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian endometrioid stromal sarcoma LEXMATCH +MONDO:0003487 pseudoglandular squamous cell carcinoma skos:closeMatch NCIT:C4200 Adenocarcinoma with Squamous Metaplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenoacanthoma LEXMATCH +MONDO:0003487 pseudoglandular squamous cell carcinoma skos:closeMatch NCIT:C4200 Adenocarcinoma with Squamous Metaplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma with squamous metaplasia LEXMATCH MONDO:0003487 pseudoglandular squamous cell carcinoma skos:closeMatch NCIT:C4200 Adenocarcinoma with Squamous Metaplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma with squamous metaplasia LEXMATCH +MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NCIT:C65188 Malignant Gastrinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant gastrinoma LEXMATCH MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NCIT:C65188 Malignant Gastrinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant gastrinoma LEXMATCH +MONDO:0003544 spinal cord cancer skos:closeMatch NCIT:C168693 Spinal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal neoplasm LEXMATCH MONDO:0003544 spinal cord cancer skos:closeMatch NCIT:C168693 Spinal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal neoplasm LEXMATCH +MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:closeMatch NCIT:C155952 Uterine Ligament Papillary Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterine ligament papillary cystadenoma LEXMATCH MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:closeMatch NCIT:C155952 Uterine Ligament Papillary Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterine ligament papillary cystadenoma LEXMATCH +MONDO:0003756 ovarian mucinous neoplasm skos:closeMatch NCIT:C40033 Malignant Ovarian Mucinous Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant ovarian mucinous neoplasm LEXMATCH +MONDO:0003766 thalamic cancer skos:closeMatch NCIT:C6221 Thalamic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thalamic neoplasm LEXMATCH MONDO:0003766 thalamic cancer skos:closeMatch NCIT:C6221 Thalamic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thalamic neoplasm LEXMATCH +MONDO:0003865 acral lentiginous melanoma skos:closeMatch NCIT:C204883 Acral Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral melanoma LEXMATCH MONDO:0003865 acral lentiginous melanoma skos:closeMatch NCIT:C204883 Acral Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acral melanoma LEXMATCH +MONDO:0003865 acral lentiginous melanoma skos:closeMatch NCIT:C204887 Subungual Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subungual melanoma LEXMATCH MONDO:0003865 acral lentiginous melanoma skos:closeMatch NCIT:C204887 Subungual Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subungual melanoma LEXMATCH +MONDO:0004063 intermediate cell type iris melanoma skos:closeMatch NCIT:C174506 Iris Mixed Epithelioid and Spindle Cell Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris mixed cell melanoma LEXMATCH +MONDO:0004182 stage IVb bladder cancer skos:closeMatch NCIT:C9367 Stage IVA Bladder Cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jewett-marshall stage d1 bladder cancer LEXMATCH +MONDO:0004245 ependymal tumor of brain skos:closeMatch NCIT:C156462 Brain Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain ependymoma LEXMATCH MONDO:0004245 ependymal tumor of brain skos:closeMatch NCIT:C156462 Brain Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain ependymoma LEXMATCH +MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39825 Invasive Bladder Sarcomatoid Urothelial Carcinoma with Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements LEXMATCH +MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39826 Invasive Bladder Sarcomatoid Urothelial Carcinoma without Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements LEXMATCH +MONDO:0004631 tongue cancer skos:closeMatch NCIT:C3524 Malignant Posterior Tongue Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant neoplasm of base of tongue LEXMATCH +MONDO:0004631 tongue cancer skos:closeMatch NCIT:C3524 Malignant Posterior Tongue Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of base of tongue LEXMATCH +MONDO:0004631 tongue cancer skos:closeMatch NCIT:C3524 Malignant Posterior Tongue Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of posterior tongue LEXMATCH +MONDO:0004631 tongue cancer skos:closeMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tongue carcinoma LEXMATCH MONDO:0004631 tongue cancer skos:closeMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tongue carcinoma LEXMATCH +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small lymphocytic lymphoma LEXMATCH MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small lymphocytic lymphoma LEXMATCH +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkins sarcoma LEXMATCH MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hodgkins sarcoma LEXMATCH +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C5010 Ann Arbor Stage II Subdiaphragmatic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym stage ii subdiaphragmatic hodgkin lymphoma LEXMATCH +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C5012 Ann Arbor Stage I Subdiaphragmatic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym stage i subdiaphragmatic hodgkin lymphoma LEXMATCH +MONDO:0004965 acinar cell carcinoma skos:closeMatch NCIT:C4197 Acinar Cell Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acinic cell tumor LEXMATCH +MONDO:0004972 adenoma skos:closeMatch NCIT:C4196 Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acinar cell adenoma LEXMATCH MONDO:0004972 adenoma skos:closeMatch NCIT:C4196 Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acinar cell adenoma LEXMATCH +MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym manic bipolar affective disorder LEXMATCH MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label manic bipolar affective disorder LEXMATCH +MONDO:0005004 clear cell adenocarcinoma skos:closeMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym water-clear cell carcinoma LEXMATCH +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NCIT:C84773 Familial Hypertrophic Cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym familial hypertrophic cardiomyopathy LEXMATCH +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NCIT:C84773 Familial Hypertrophic Cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial hypertrophic cardiomyopathy LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C27500 Lymphadenopathic Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lymphadenopathic kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C3550 Skin Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cutaneous kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C3550 Skin Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kaposis sarcoma of skin LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C3551 Lung Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pulmonary kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C4578 Conjunctival Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym conjunctival kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C4579 Corneal Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym corneal kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5363 Cardiac Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cardiac kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5363 Cardiac Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kaposis sarcoma of heart LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5523 Prostate Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kaposis sarcoma of the prostate LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5523 Prostate Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym prostate kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5529 Gastric Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym gastric kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5602 Anal Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym anal kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5602 Anal Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kaposis sarcoma of anus LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5706 Esophageal Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym esophageal kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5706 Esophageal Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kaposis sarcoma of esophagus LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5842 Gallbladder Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym gallbladder kaposis sarcoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C5842 Gallbladder Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kaposis sarcoma of the gallbladder LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C6377 Penile Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kaposis sarcoma of penis LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C6749 Palate Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym palate kaposis sarcoma LEXMATCH +MONDO:0005094 hemangiopericytoma skos:closeMatch NCIT:C6894 Malignant Solitary Fibrous Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant hemangiopericytoma LEXMATCH +MONDO:0005104 aJCC grade 1 sarcoma skos:closeMatch NCIT:C9024 Sarcoma G1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ajcc g1 sarcoma LEXMATCH +MONDO:0005104 aJCC grade 1 sarcoma skos:closeMatch NCIT:C9024 Sarcoma G1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ajcc grade i sarcoma LEXMATCH +MONDO:0005104 aJCC grade 1 sarcoma skos:closeMatch NCIT:C9024 Sarcoma G1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym well differentiated sarcoma LEXMATCH +MONDO:0005182 serous cystadenofibroma skos:closeMatch NCIT:C40032 Ovarian Serous Cystadenofibroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005182 LEXMATCH +MONDO:0005374 bone marrow neoplasm skos:closeMatch NCIT:C35501 Malignant Bone Marrow Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant bone marrow tumor LEXMATCH +MONDO:0005411 gallbladder cancer skos:closeMatch NCIT:C35676 Localized Malignant Gallbladder Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym localized malignant gallbladder neoplasm LEXMATCH MONDO:0005411 gallbladder cancer skos:closeMatch NCIT:C35676 Localized Malignant Gallbladder Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label localized malignant gallbladder neoplasm LEXMATCH +MONDO:0005412 duodenal ulcer skos:closeMatch NCIT:C35263 Stress Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym stress ulcer LEXMATCH MONDO:0005412 duodenal ulcer skos:closeMatch NCIT:C35263 Stress Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stress ulcer LEXMATCH +MONDO:0005440 embryonal carcinoma skos:closeMatch NCIT:C8880 Extragonadal Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym primary extragonadal embryonal carcinoma LEXMATCH +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anaplastic plasmacytoma LEXMATCH MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma LEXMATCH +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym solitary plasmacytoma LEXMATCH MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma LEXMATCH +MONDO:0005647 anogenital human papillomavirus infection skos:closeMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym condyloma acuminatum LEXMATCH MONDO:0005647 anogenital human papillomavirus infection skos:closeMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label condyloma acuminatum LEXMATCH +MONDO:0005701 chlamydia trachomatis infectious disease skos:closeMatch NCIT:C76271 Chlamydia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chlamydia LEXMATCH +MONDO:0005701 chlamydia trachomatis infectious disease skos:closeMatch NCIT:C76271 Chlamydia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chlamydia LEXMATCH +MONDO:0006006 verrucous carcinoma skos:closeMatch NCIT:C164248 Warty Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warty carcinoma LEXMATCH MONDO:0006006 verrucous carcinoma skos:closeMatch NCIT:C164248 Warty Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warty carcinoma LEXMATCH +MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch NCIT:C182151 Diffuse Midline Glioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse midline glioma LEXMATCH MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch NCIT:C182151 Diffuse Midline Glioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse midline glioma LEXMATCH +MONDO:0006055 sex cord-stromal tumor skos:closeMatch NCIT:C39948 Malignant Testicular Sex Cord-Stromal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant testicular sex cord-stromal tumor LEXMATCH MONDO:0006055 sex cord-stromal tumor skos:closeMatch NCIT:C39948 Malignant Testicular Sex Cord-Stromal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant testicular sex cord-stromal tumor LEXMATCH +MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:closeMatch NCIT:C188221 Cervical Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical neuroendocrine tumor LEXMATCH MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:closeMatch NCIT:C188221 Cervical Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical neuroendocrine tumor LEXMATCH +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C27926 Asbestos-Related Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym asbestos-related malignant mesothelioma LEXMATCH MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C27926 Asbestos-Related Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label asbestos-related malignant mesothelioma LEXMATCH +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C7865 Advanced Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym advanced malignant mesothelioma LEXMATCH MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C7865 Advanced Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label advanced malignant mesothelioma LEXMATCH +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C8420 Diffuse Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse malignant mesothelioma LEXMATCH MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C8420 Diffuse Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label diffuse malignant mesothelioma LEXMATCH +MONDO:0006312 myofibroma skos:closeMatch NCIT:C180887 Infantile Myofibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile hemangiopericytoma LEXMATCH +MONDO:0006312 myofibroma skos:closeMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile hemangiopericytoma LEXMATCH MONDO:0006312 myofibroma skos:closeMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile hemangiopericytoma LEXMATCH +MONDO:0006405 salivary gland small cell carcinoma skos:closeMatch NCIT:C173653 Salivary Gland Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary gland neuroendocrine carcinoma LEXMATCH MONDO:0006405 salivary gland small cell carcinoma skos:closeMatch NCIT:C173653 Salivary Gland Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland neuroendocrine carcinoma LEXMATCH +MONDO:0006488 vaginal carcinosarcoma skos:closeMatch NCIT:C40274 Vaginal Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vaginal mixed epithelial and mesenchymal tumor LEXMATCH +MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C170736 Pleomorphic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pleomorphic fibroma LEXMATCH MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C170736 Pleomorphic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic fibroma LEXMATCH +MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrohistiocytic tumor LEXMATCH +MONDO:0006738 eccrine acrospiroma skos:closeMatch NCIT:C205539 Solid Cystic Hidradenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym solid cystic hidradenoma LEXMATCH MONDO:0006738 eccrine acrospiroma skos:closeMatch NCIT:C205539 Solid Cystic Hidradenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solid cystic hidradenoma LEXMATCH +MONDO:0006787 hidrocystoma skos:closeMatch NCIT:C205459 Apocrine Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym apocrine cystadenoma LEXMATCH MONDO:0006787 hidrocystoma skos:closeMatch NCIT:C205459 Apocrine Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label apocrine cystadenoma LEXMATCH +MONDO:0006787 hidrocystoma skos:closeMatch NCIT:C7565 Eccrine Hidrocystoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eccrine cystadenoma LEXMATCH +MONDO:0006835 lipoid nephrosis skos:closeMatch NCIT:C35540 Nephrotic Syndrome with Lesion of Minimal Change Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome with lesion of minimal change glomerulonephritis LEXMATCH +MONDO:0006835 lipoid nephrosis skos:closeMatch NCIT:C35540 Nephrotic Syndrome with Lesion of Minimal Change Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrotic syndrome with lesion of minimal change glomerulonephritis LEXMATCH +MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch NCIT:C199391 Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary localized cutaneous amyloidosis LEXMATCH +MONDO:0007251 campomelic dysplasia skos:closeMatch NCIT:C75517 SOX9 wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1 LEXMATCH +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C7711 Adult Liver Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cancer LEXMATCH +MONDO:0007417 Darier disease skos:closeMatch NCIT:C79969 Darjeeling Zebrafish semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dar LEXMATCH +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch NCIT:C80414 Cardiac Electrophysiology Study semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eps LEXMATCH +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch NCIT:C58005 Photosensitivity, CTCAE semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photosensitivity LEXMATCH +MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign hair follicle neoplasm LEXMATCH MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm LEXMATCH +MONDO:0007576 esophageal cancer skos:closeMatch NCIT:C3533 Malignant Neoplasm of the Upper Third of the Esophagus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant neoplasm of proximal third of esophagus LEXMATCH +MONDO:0007576 esophageal cancer skos:closeMatch NCIT:C3533 Malignant Neoplasm of the Upper Third of the Esophagus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of proximal third of esophagus LEXMATCH +MONDO:0007576 esophageal cancer skos:closeMatch NCIT:C3534 Malignant Neoplasm of the Middle Third of the Esophagus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant neoplasm of middle third of esophagus LEXMATCH +MONDO:0007576 esophageal cancer skos:closeMatch NCIT:C3534 Malignant Neoplasm of the Middle Third of the Esophagus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of the middle third of the esophagus LEXMATCH +MONDO:0007576 esophageal cancer skos:closeMatch NCIT:C3535 Malignant Neoplasm of the Lower Third of the Esophagus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant neoplasm of distal third of esophagus LEXMATCH +MONDO:0007576 esophageal cancer skos:closeMatch NCIT:C3535 Malignant Neoplasm of the Lower Third of the Esophagus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant neoplasm of lower third of esophagus LEXMATCH +MONDO:0007576 esophageal cancer skos:closeMatch NCIT:C3535 Malignant Neoplasm of the Lower Third of the Esophagus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant tumor of distal third of esophagus LEXMATCH +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple osteochondromas LEXMATCH +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis LEXMATCH MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas LEXMATCH +MONDO:0007590 hemifacial hypertrophy skos:closeMatch NCIT:C84702 Facial Asymmetry semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial asymmetry LEXMATCH +MONDO:0007590 hemifacial hypertrophy skos:closeMatch NCIT:C84702 Facial Asymmetry semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial asymmetry LEXMATCH +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch NCIT:C84778 Ichthyosis Vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis vulgaris LEXMATCH +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch NCIT:C84778 Ichthyosis Vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris LEXMATCH +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch NCIT:C84778 Ichthyosis Vulgaris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007810 LEXMATCH +MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute monoblastic leukemia LEXMATCH MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia LEXMATCH +MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C9156 Adult Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute monoblastic leukemia LEXMATCH +MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C9162 Childhood Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute monoblastic leukemia LEXMATCH +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch NCIT:C52204 RET wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtc1 LEXMATCH +MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C27294 Localized Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym localized primitive neuroectodermal tumor LEXMATCH MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C27294 Localized Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized primitive neuroectodermal tumor LEXMATCH +MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:closeMatch NCIT:C51319 RPS6KA5 wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msk1 LEXMATCH +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch NCIT:C165497 Spitz Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst LEXMATCH +MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch NCIT:C54317 Odontoameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oa LEXMATCH +MONDO:0008209 Char syndrome skos:closeMatch NCIT:C52214 TFAP2B wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char LEXMATCH +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch NCIT:C85045 Retinitis Pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa LEXMATCH +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch NCIT:C85045 Retinitis Pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa LEXMATCH +MONDO:0008401 pleomorphic adenoma skos:closeMatch NCIT:C35691 Mixed Tumor of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mixed tumor of the salivary gland LEXMATCH MONDO:0008401 pleomorphic adenoma skos:closeMatch NCIT:C35691 Mixed Tumor of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed tumor of the salivary gland LEXMATCH +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NCIT:C85187 Thanatophoric Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia LEXMATCH +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NCIT:C85187 Thanatophoric Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia LEXMATCH +MONDO:0008575 nicotine dependence skos:closeMatch NCIT:C35074 Tobacco Use Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tobacco use disorder LEXMATCH MONDO:0008575 nicotine dependence skos:closeMatch NCIT:C35074 Tobacco Use Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tobacco use disorder LEXMATCH +MONDO:0008676 white sponge nevus 1 skos:closeMatch NCIT:C84760 Hereditary Leukokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon LEXMATCH +MONDO:0008695 chorea-acanthocytosis skos:closeMatch NCIT:C84926 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroacanthocytosis LEXMATCH +MONDO:0008695 chorea-acanthocytosis skos:closeMatch NCIT:C84926 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis LEXMATCH +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch NCIT:C84794 Jeune Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeune syndrome LEXMATCH +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch NCIT:C84794 Jeune Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome LEXMATCH +MONDO:0008869 Seckel syndrome 1 skos:closeMatch NCIT:C50979 ATR wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sckl LEXMATCH +MONDO:0008977 chondrosarcoma skos:closeMatch NCIT:C7155 Primary Central Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary chondrosarcoma of the bone LEXMATCH +MONDO:0009258 classic galactosemia skos:closeMatch NCIT:C84723 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia LEXMATCH +MONDO:0009258 classic galactosemia skos:closeMatch NCIT:C84723 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia LEXMATCH +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder LEXMATCH +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder LEXMATCH MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder LEXMATCH +MONDO:0009275 neonatal hemochromatosis skos:closeMatch NCIT:C43460 New Hampshire semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nh LEXMATCH +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch NCIT:C84797 Kartagener Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kartagener syndrome LEXMATCH +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch NCIT:C84797 Kartagener Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kartagener syndrome LEXMATCH +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever LEXMATCH +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever LEXMATCH +MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch NCIT:C204889 Nail Apparatus Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nam LEXMATCH +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C85214 Niemann-Pick Disease, Type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, type c LEXMATCH +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C85214 Niemann-Pick Disease, Type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c LEXMATCH +MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym childhood choroid plexus papilloma LEXMATCH +MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym childhood papilloma of choroid plexus LEXMATCH +MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pediatric papilloma of choroid plexus LEXMATCH MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood choroid plexus papilloma LEXMATCH +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent fetal circulation LEXMATCH +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent pulmonary hypertension of the newborn LEXMATCH +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent fetal circulation LEXMATCH +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009934 LEXMATCH +MONDO:0009940 pycnodysostosis skos:closeMatch NCIT:C90321 CTSK wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pycd LEXMATCH +MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch NCIT:C52222 TEK wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmcm1 LEXMATCH +MONDO:0010857 semantic dementia skos:closeMatch NCIT:C84719 Frontotemporal Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia LEXMATCH +MONDO:0010857 semantic dementia skos:closeMatch NCIT:C84719 Frontotemporal Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia LEXMATCH +MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch NCIT:C7704 Adult Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym non-hodgkin lymphoma LEXMATCH +MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch NCIT:C7706 Childhood Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym non-hodgkin lymphoma LEXMATCH +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym childhood alveolar soft part sarcoma LEXMATCH +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pediatric alveolar soft part sarcoma LEXMATCH MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma LEXMATCH +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma LEXMATCH +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C49790 IL13 wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alrh LEXMATCH +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym seasonal allergic rhinitis LEXMATCH +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label seasonal allergic rhinitis LEXMATCH +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym non-seasonal allergic rhinitis LEXMATCH +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym perennial allergic rhinitis LEXMATCH +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label perennial allergic rhinitis LEXMATCH +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch NCIT:C4700 Giant Cell Fibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell fibroblastoma LEXMATCH MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch NCIT:C4700 Giant Cell Fibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant cell fibroblastoma LEXMATCH +MONDO:0012321 Alzheimer disease 10 skos:closeMatch NCIT:C91859 ADAM10 wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad10 LEXMATCH +MONDO:0012454 alcohol sensitivity, acute skos:closeMatch NCIT:C78167 Alcohol Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol intolerance LEXMATCH +MONDO:0012454 alcohol sensitivity, acute skos:closeMatch NCIT:C78167 Alcohol Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol intolerance LEXMATCH +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27901 Localized Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym localized ewings sarcoma/peripheral primitive neuroectodermal tumor LEXMATCH +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym localized peripheral primitive neuroectodermal tumor LEXMATCH MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor LEXMATCH +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym localized ewing sarcoma LEXMATCH +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym localized ewings sarcoma LEXMATCH +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym localized ewings tumor LEXMATCH MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma LEXMATCH +MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch NCIT:C52207 MED23 wt Allele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt18 LEXMATCH +MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch NCIT:C173391 Laryngeal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal neuroendocrine tumor LEXMATCH MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch NCIT:C173391 Laryngeal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor LEXMATCH +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NCIT:C62580 Bronchiolitis Obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bronchiolitis obliterans LEXMATCH +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NCIT:C62580 Bronchiolitis Obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchiolitis obliterans LEXMATCH +MONDO:0016057 isolated encephalocele skos:closeMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum LEXMATCH +MONDO:0016057 isolated encephalocele skos:closeMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalocele LEXMATCH +MONDO:0016057 isolated encephalocele skos:closeMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalocele LEXMATCH +MONDO:0016101 neurolymphomatosis skos:closeMatch NCIT:C84884 Marek Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marek disorder LEXMATCH +MONDO:0016101 neurolymphomatosis skos:closeMatch NCIT:C84884 Marek Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marek disorder LEXMATCH +MONDO:0016107 myotonic dystrophy skos:closeMatch NCIT:C84913 Myotonic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic disorder LEXMATCH +MONDO:0016107 myotonic dystrophy skos:closeMatch NCIT:C84913 Myotonic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic disorder LEXMATCH +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NCIT:C85207 True Hermaphroditism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym true hermaphroditism LEXMATCH +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NCIT:C85207 True Hermaphroditism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label true hermaphroditism LEXMATCH +MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse cerebral sclerosis of schilder LEXMATCH +MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse cerebral sclerosis of schilder LEXMATCH +MONDO:0016642 meningioma skos:closeMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intracranial meningioma LEXMATCH MONDO:0016642 meningioma skos:closeMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial meningioma LEXMATCH +MONDO:0016642 meningioma skos:closeMatch NCIT:C6971 Meningothelial Cell Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningothelial cell tumor LEXMATCH +MONDO:0016642 meningioma skos:closeMatch NCIT:C6971 Meningothelial Cell Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary meningeal tumor LEXMATCH +MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supratentorial meningioma LEXMATCH MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma LEXMATCH +MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym childhood ganglioglioma LEXMATCH MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma LEXMATCH +MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult ganglioglioma LEXMATCH MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult ganglioglioma LEXMATCH +MONDO:0017453 fetal parvovirus syndrome skos:closeMatch NCIT:C84695 Erythema Infectiosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fifth disorder LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C68694 Adult Erythroleukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroleukemia LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroleukemia LEXMATCH MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroleukemia LEXMATCH +MONDO:0018044 idiopathic hypersomnia skos:closeMatch NCIT:C84781 Idiopathic Hypersomnolence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic hypersomnolence LEXMATCH +MONDO:0018044 idiopathic hypersomnia skos:closeMatch NCIT:C84781 Idiopathic Hypersomnolence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypersomnolence LEXMATCH +MONDO:0018079 thymic epithelial neoplasm skos:closeMatch NCIT:C38134 Tetanus Toxoid Helper Peptide semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tet LEXMATCH +MONDO:0018842 primary effusion lymphoma skos:closeMatch NCIT:C3471 AIDS-Related Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aids-related lymphoma LEXMATCH MONDO:0018842 primary effusion lymphoma skos:closeMatch NCIT:C3471 AIDS-Related Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids-related lymphoma LEXMATCH +MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic fibrous dysplasia LEXMATCH MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia LEXMATCH +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iva LEXMATCH +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iva LEXMATCH +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type ivb LEXMATCH +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type ivb LEXMATCH +MONDO:0019086 carcinoma of esophagus skos:closeMatch NCIT:C118812 Childhood Esophageal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym esophageal cancer LEXMATCH +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis LEXMATCH +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis LEXMATCH +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019306 LEXMATCH +MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chronic t-cell leukemia LEXMATCH +MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chronic t-cell lymphocytic leukemia LEXMATCH +MONDO:0019960 VIPoma skos:closeMatch NCIT:C95599 Pancreatic Vipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic vipoma LEXMATCH MONDO:0019960 VIPoma skos:closeMatch NCIT:C95599 Pancreatic Vipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic vipoma LEXMATCH +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch NCIT:C7962 Adult Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute myelomonocytic leukemia LEXMATCH +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch NCIT:C7970 Childhood Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute myelomonocytic leukemia LEXMATCH +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meesmann corneal dystrophy LEXMATCH +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accelerated phase chronic granulocytic leukemia LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accelerated phase chronic myelocytic leukemia LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accelerated phase chronic myelogenous leukemia LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accelerated phase chronic myelogenous leukemia, bcr-abl1 positive LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accelerated phase chronic myeloid leukemia LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accelerated phase cml LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aggressive-phase chronic myelocytic leukemia LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aggressive-phase chronic myelogenous leukemia LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aggressive-phase chronic myeloid leukemia LEXMATCH +MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aggressive-phase cml LEXMATCH +MONDO:0021636 astrocytic tumor skos:closeMatch NCIT:C124275 Childhood Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym astrocytoma LEXMATCH +MONDO:0021657 ovarian sex cord-stromal tumor skos:closeMatch NCIT:C4208 Ovarian Sex Cord Tumor with Annular Tubules semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian sex cord tumor with annular tubules LEXMATCH MONDO:0021657 ovarian sex cord-stromal tumor skos:closeMatch NCIT:C4208 Ovarian Sex Cord Tumor with Annular Tubules semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian sex cord tumor with annular tubules LEXMATCH +MONDO:0022037 large-cell immunoblastic lymphoma skos:closeMatch NCIT:C3461 Immunoblastic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoblastic lymphoma LEXMATCH MONDO:0022037 large-cell immunoblastic lymphoma skos:closeMatch NCIT:C3461 Immunoblastic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoblastic lymphoma LEXMATCH +MONDO:0022037 large-cell immunoblastic lymphoma skos:closeMatch NCIT:C7873 Adult Immunoblastic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoblastic lymphoma LEXMATCH +MONDO:0022037 large-cell immunoblastic lymphoma skos:closeMatch NCIT:C9079 Childhood Immunoblastic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoblastic lymphoma LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulation tissue-type hemangioma LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granuloma pyogenicum LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granuloma telangiecticum LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomata pyogenicum LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatous granulation tissue LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular capillary hemangioma LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular hemangioma LEXMATCH +MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyogenic granuloma LEXMATCH MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lobular capillary hemangioma LEXMATCH +MONDO:0023161 viral myocarditis skos:closeMatch NCIT:C91441 Viral Myocarditis Pathway semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym viral myocarditis LEXMATCH +MONDO:0023650 littoral cell angioma of the spleen skos:closeMatch NCIT:C200524 Littoral Cell Angioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym littoral cell angioma LEXMATCH MONDO:0023650 littoral cell angioma of the spleen skos:closeMatch NCIT:C200524 Littoral Cell Angioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label littoral cell angioma LEXMATCH +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid dysgenesis LEXMATCH +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid dysgenesis LEXMATCH +MONDO:0024265 Duane syndrome type 1 skos:closeMatch NCIT:C84678 Duane Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome LEXMATCH +MONDO:0024265 Duane syndrome type 1 skos:closeMatch NCIT:C84678 Duane Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duane syndrome LEXMATCH +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets LEXMATCH +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets LEXMATCH +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C115623 Adult Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subependymoma LEXMATCH +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C124275 Childhood Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym astrocytoma LEXMATCH +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C5097 Brain Stem Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme LEXMATCH +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C9092 Adult Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ependymoma LEXMATCH +MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carcinoid tumor LEXMATCH +MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder LEXMATCH MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder LEXMATCH +MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym islet cell adenoma LEXMATCH MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label islet cell adenoma LEXMATCH +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis LEXMATCH +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva LEXMATCH +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis LEXMATCH +MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:closeMatch NCIT:C34607 Favism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym favism LEXMATCH +MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:closeMatch NCIT:C34607 Favism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label favism LEXMATCH +MONDO:0040674 orgasm disorder skos:closeMatch NCIT:C78510 Abnormal Orgasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abnormal orgasm LEXMATCH +MONDO:0040674 orgasm disorder skos:closeMatch NCIT:C78510 Abnormal Orgasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abnormal orgasm LEXMATCH +MONDO:0043251 odontoma skos:closeMatch NCIT:C3710 Ameloblastic Fibro-Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ameloblastic fibro-odontoma LEXMATCH MONDO:0043251 odontoma skos:closeMatch NCIT:C3710 Ameloblastic Fibro-Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ameloblastic fibro-odontoma LEXMATCH +MONDO:0043771 radiodermatitis skos:closeMatch NCIT:C78580 Radiation-Recall Dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radiation recall dermatitis LEXMATCH +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C4498 Nevus Spilus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus spilus LEXMATCH MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C4498 Nevus Spilus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus spilus LEXMATCH +MONDO:0100042 cardiac conduction defect skos:closeMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100042 LEXMATCH +MONDO:0100042 cardiac conduction defect skos:closeMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0100042 LEXMATCH +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch NCIT:C84788 West Syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100062 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index c546db4d..f1eb666e 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -1,19 +1,16 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0080069 Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 specific bursitis often of occupational origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0001679 obsolete crater-like holes of optic disk skos:exactMatch DOID:13295 crater-like holes of optic disc semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0001693 obsolete ego-dystonic sexual orientation skos:exactMatch DOID:13352 ego-dystonic sexual orientation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0002324 obsolete enamel erosion skos:exactMatch DOID:2497 enamel erosion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch DOID:2537 inflammatory and toxic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMatch DOID:4148 gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0003456 obsolete bile duct mucinous cystic neoplasm skos:exactMatch DOID:5469 biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0003804 obsolete blood protein disease skos:exactMatch DOID:620 blood protein disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung clear cell carcinoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -28,56 +25,49 @@ MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 ben MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papilledema LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema LEXMATCH MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111368 cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency LEXMATCH +MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch DOID:0060987 preaxial polydactyly I semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174400 LEXMATCH +MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch DOID:0060986 preaxial polydactyly II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174500 LEXMATCH +MONDO:0008272 polysyndactyly 4 skos:exactMatch DOID:0060985 preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174700 LEXMATCH MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dialysis dysequilibrium syndrome LEXMATCH +MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d006030 LEXMATCH +MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:233100 LEXMATCH MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350 LEXMATCH MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614592 LEXMATCH +MONDO:0014406 pancreatic agenesis 2 skos:exactMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615935 LEXMATCH +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617086 LEXMATCH +MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch DOID:0070614 chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome type 11 LEXMATCH +MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch DOID:0070614 chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial duplication of chromosome type 11 LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch DOID:0070595 X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301077 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:exactMatch DOID:0070565 spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619799 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:exactMatch DOID:0070566 spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619803 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:exactMatch DOID:0070567 spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619805 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:exactMatch DOID:0070568 spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619826 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:exactMatch DOID:0070569 spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619828 LEXMATCH -MONDO:0030787 spermatogenic failure 71 skos:exactMatch DOID:0070570 spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619831 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:exactMatch DOID:0070571 spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619867 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:exactMatch DOID:0070572 spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619878 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:exactMatch DOID:0070573 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619937 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:exactMatch DOID:0070574 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619949 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:exactMatch DOID:0070575 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620084 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:exactMatch DOID:0070576 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620103 LEXMATCH +MONDO:0030549 hearing loss, autosomal dominant 81 skos:exactMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619500 LEXMATCH +MONDO:0030719 hearing loss, autosomal dominant 82 skos:exactMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619804 LEXMATCH +MONDO:0030723 hearing loss, autosomal dominant 83 skos:exactMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619808 LEXMATCH +MONDO:0030724 hearing loss, autosomal dominant 84 skos:exactMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619810 LEXMATCH +MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619775 LEXMATCH +MONDO:0030998 hearing loss, autosomal dominant 80 skos:exactMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619274 LEXMATCH +MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch DOID:0060984 digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620040 LEXMATCH +MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch DOID:0060991 congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation LEXMATCH +MONDO:0032802 hearing loss, autosomal dominant 37 skos:exactMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618533 LEXMATCH MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617877 LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic fibrosing alveolitis LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic pulmonary dysplasia LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis, familial LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:exactMatch DOID:0070577 spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620170 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:exactMatch DOID:0070578 spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620196 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:exactMatch DOID:0070579 spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620222 LEXMATCH -MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch DOID:0070596 X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301099 LEXMATCH -MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch DOID:0070597 X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301101 LEXMATCH -MONDO:0859522 spermatogenic failure 81 skos:exactMatch DOID:0070580 spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620277 LEXMATCH -MONDO:0957202 spermatogenic failure, X-linked, 7 skos:exactMatch DOID:0070598 X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301106 LEXMATCH -MONDO:0957249 spermatogenic failure 82 skos:exactMatch DOID:0070581 spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620353 LEXMATCH -MONDO:0957250 spermatogenic failure 83 skos:exactMatch DOID:0070582 spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620354 LEXMATCH -MONDO:0957301 spermatogenic failure 84 skos:exactMatch DOID:0070583 spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620409 LEXMATCH -MONDO:0957584 spermatogenic failure 85 skos:exactMatch DOID:0070584 spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620490 LEXMATCH -MONDO:0957593 spermatogenic failure 86 skos:exactMatch DOID:0070585 spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620499 LEXMATCH -MONDO:0957594 spermatogenic failure 87 skos:exactMatch DOID:0070586 spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620500 LEXMATCH -MONDO:0957821 spermatogenic failure 88 skos:exactMatch DOID:0070587 spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620547 LEXMATCH -MONDO:0958206 spermatogenic failure 89 skos:exactMatch DOID:0070588 spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620705 LEXMATCH -MONDO:0958242 spermatogenic failure 90 skos:exactMatch DOID:0070589 spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620744 LEXMATCH -MONDO:0970943 spermatogenic failure, x-linked, 8 skos:exactMatch DOID:0070599 X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301119 LEXMATCH -MONDO:0970952 spermatogenic failure 91 skos:exactMatch DOID:0070590 spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620838 LEXMATCH -MONDO:0970999 spermatogenic failure 92 skos:exactMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848 LEXMATCH -MONDO:0971000 spermatogenic failure 93 skos:exactMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849 LEXMATCH -MONDO:0971002 spermatogenic failure 94 skos:exactMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850 LEXMATCH -MONDO:0975747 spermatogenic failure 95 skos:exactMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620917 LEXMATCH +MONDO:0859224 intellectual disability and myopathy syndrome skos:exactMatch DOID:0070600 intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619719 LEXMATCH +MONDO:0859366 hearing loss, autosomal dominant 85 skos:exactMatch DOID:0070605 autosomal dominant nonsyndromic deafness 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620227 LEXMATCH +MONDO:0859524 hearing loss, autosomal dominant 86 skos:exactMatch DOID:0070610 autosomal dominant nonsyndromic deafness 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620280 LEXMATCH +MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch DOID:0070606 autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620281 LEXMATCH +MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620283 LEXMATCH +MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620284 LEXMATCH +MONDO:0859573 bent bone dysplasia syndrome 2 skos:exactMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620076 LEXMATCH +MONDO:0958232 hearing loss, autosomal dominant 90 skos:exactMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620722 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index 28a70134..bad84d25 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -2376,3 +2376,5 @@ MONDO:0956962 benign teratoma skos:exactMatch ICD10CM:D28 Benign neoplasm of oth MONDO:0956980 vascular parkinsonism skos:exactMatch ICD10CM:G21.4 Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism LEXMATCH MONDO:0958083 conjoined twins skos:exactMatch ICD10CM:Q89.4 Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins LEXMATCH MONDO:0971058 verruga peruana skos:exactMatch ICD10CM:A44.1 Cutaneous and mucocutaneous bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verruga peruana LEXMATCH +MONDO:1030007 hypertensive urgency skos:exactMatch ICD10CM:I16.0 Hypertensive urgency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive urgency LEXMATCH +MONDO:1030010 precerebral artery stenosis skos:exactMatch ICD10CM:I65 Occlusion and stenosis of precerebral arteries, not resulting in cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym narrowing of precerebral artery LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv index 270b6355..6025beed 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv @@ -1648,3 +1648,5 @@ MONDO:0850301 pemphigoid skos:exactMatch ICD10WHO:L12 Pemphigoid semapv:LexicalM MONDO:0859565 atrioventricular septal defect skos:exactMatch ICD10WHO:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect LEXMATCH MONDO:0956980 vascular parkinsonism skos:exactMatch ICD10WHO:G21.4 Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism LEXMATCH MONDO:0958083 conjoined twins skos:exactMatch ICD10WHO:Q89.4 Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins LEXMATCH +MONDO:1030009 persistent atrial fibrillation skos:exactMatch ICD10WHO:I48.1 Persistent atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent atrial fibrillation LEXMATCH +MONDO:1030011 paroxysmal atrial fibrillation skos:exactMatch ICD10WHO:I48.0 Paroxysmal atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal atrial fibrillation LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv index 0fdb8a61..21544f84 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv @@ -390,10 +390,7 @@ MONDO:0001292 autonomic nervous system disorder skos:exactMatch icd11.foundation MONDO:0001292 autonomic nervous system disorder skos:exactMatch icd11.foundation:1397803237 Disorders of autonomic nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of peripheral autonomic nervous system LEXMATCH MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital insufficiency of mitral valve LEXMATCH MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital mitral insufficiency LEXMATCH -MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital mitral regurgitation LEXMATCH -MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital mitral regurgitation LEXMATCH MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital mitral valve insufficiency LEXMATCH -MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch icd11.foundation:637470326 Mitral valve insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitral valve incompetence LEXMATCH MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch icd11.foundation:1129679469 Autonomic neuropathy due to diabetes mellitus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diabetic autonomic neuropathy LEXMATCH MONDO:0001301 rumination disorder skos:exactMatch icd11.foundation:653249814 Gastric contents regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rumination LEXMATCH MONDO:0001303 abnormal pupillary function skos:exactMatch icd11.foundation:538839606 Anomalies of pupillary function semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abnormal pupillary function LEXMATCH @@ -5052,7 +5049,6 @@ MONDO:0018029 congenital factor XIII deficiency skos:exactMatch icd11.foundation MONDO:0018029 congenital factor XIII deficiency skos:exactMatch icd11.foundation:2079957863 Hereditary factor XIII deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital factor xiii deficiency LEXMATCH MONDO:0018031 granulomatous slack skin disease skos:exactMatch icd11.foundation:1557643847 Granulomatous slack skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous slack skin LEXMATCH MONDO:0018031 granulomatous slack skin disease skos:exactMatch icd11.foundation:1557643847 Granulomatous slack skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous slack skin LEXMATCH -MONDO:0018040 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells skos:exactMatch icd11.foundation:769068598 Immunodeficiencies with severe reduction in serum IgG or IgA with normal or elevated IgM and normal numbers of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018042 obsolete immunodeficiency syndrome with abnormal pigmentation skos:exactMatch icd11.foundation:2015243510 Immune dysregulation syndromes with hypopigmentation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018044 idiopathic hypersomnia skos:exactMatch icd11.foundation:1980306606 Insufficient sleep syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary hypersomnia LEXMATCH MONDO:0018058 tracheal agenesis skos:exactMatch icd11.foundation:566688418 Agenesis of trachea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of trachea LEXMATCH @@ -6046,6 +6042,8 @@ MONDO:0700219 neoplastic meningitis skos:exactMatch icd11.foundation:1408272267 MONDO:0700226 food allergy skos:exactMatch icd11.foundation:1028477872 Food hypersensitivity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym food hypersensitivity LEXMATCH MONDO:0700226 food allergy skos:exactMatch icd11.foundation:1028477872 Food hypersensitivity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label food hypersensitivity LEXMATCH MONDO:0700226 food allergy skos:exactMatch icd11.foundation:1028477872 Food hypersensitivity semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym food allergy LEXMATCH +MONDO:0700282 POLR3-related leukodystrophy skos:exactMatch icd11.foundation:1151136209 4H leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4h leukodystrophy LEXMATCH +MONDO:0700282 POLR3-related leukodystrophy skos:exactMatch icd11.foundation:1151136209 4H leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 4h leukodystrophy LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch icd11.foundation:1074069640 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch icd11.foundation:1074069640 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis LEXMATCH MONDO:0800042 restrictive dermopathy 1 skos:exactMatch icd11.foundation:713433700 Lethal restrictive dermopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperkeratosis-contracture syndrome LEXMATCH @@ -6075,7 +6073,11 @@ MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch icd11.found MONDO:0975755 eccrine angiomatous hamartoma skos:exactMatch icd11.foundation:541084000 Eccrine angiomatous hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eccrine angiomatous hamartoma LEXMATCH MONDO:0975758 microvenular haemangioma skos:exactMatch icd11.foundation:1766508726 Microvenular haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvenular haemangioma LEXMATCH MONDO:0975759 acquired elastotic haemangioma skos:exactMatch icd11.foundation:1009548311 Acquired elastotic haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired elastotic haemangioma LEXMATCH +MONDO:1010089 hypomyopathic dermatomyositis skos:exactMatch icd11.foundation:619606071 Hypomyopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyopathic dermatomyositis LEXMATCH MONDO:1030003 Mycoplasmoides infection skos:exactMatch icd11.foundation:438419889 Mycoplasma infection of unspecified site semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mycoplasmosis LEXMATCH +MONDO:1030007 hypertensive urgency skos:exactMatch icd11.foundation:956687992 Hypertensive urgency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive urgency LEXMATCH +MONDO:1030008 mitral valve insufficiency skos:exactMatch icd11.foundation:637470326 Mitral valve insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitral valve insufficiency LEXMATCH +MONDO:1030009 persistent atrial fibrillation skos:exactMatch icd11.foundation:519924384 Persistent atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent atrial fibrillation LEXMATCH MONDO:1040027 hypermobility spectrum disorder skos:exactMatch icd11.foundation:24232012 Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign joint hypermobility syndrome LEXMATCH MONDO:1050000 sycosis barbae skos:exactMatch icd11.foundation:1245506993 Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae LEXMATCH MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonic testicular regression syndrome LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index 1c17ef61..807b8c43 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -1,72 +1,637 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant respiratory system neoplasm LEXMATCH MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant respiratory system neoplasm LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch NCIT:C8758 Stage 0 Lung Adenocarcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lung adenocarcinoma in situ LEXMATCH +MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch NCIT:C8758 Stage 0 Lung Adenocarcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lung adenocarcinoma in situ LEXMATCH +MONDO:0000873 lymphoblastic lymphoma skos:exactMatch NCIT:C9124 Childhood Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphoblastic lymphoma LEXMATCH +MONDO:0000873 lymphoblastic lymphoma skos:exactMatch NCIT:C9124 Childhood Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoblastic lymphoma LEXMATCH +MONDO:0000873 lymphoblastic lymphoma skos:exactMatch NCIT:C9361 Adult Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphoblastic lymphoma LEXMATCH +MONDO:0000873 lymphoblastic lymphoma skos:exactMatch NCIT:C9361 Adult Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoblastic lymphoma LEXMATCH +MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch NCIT:C7226 Adult T Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t lymphoblastic lymphoma LEXMATCH +MONDO:0000930 nodular malignant melanoma skos:exactMatch NCIT:C205125 Nodular Melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular melanoma LEXMATCH MONDO:0000930 nodular malignant melanoma skos:exactMatch NCIT:C205125 Nodular Melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular melanoma LEXMATCH +MONDO:0000964 skin lipoma skos:exactMatch NCIT:C5566 Skin Lipomatous Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous lipomatous tumor LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiac conduction disorder LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiac conduction disorder LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of cardiac conduction LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of cardiac conduction LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart conduction disorder LEXMATCH +MONDO:0001325 penile cancer skos:exactMatch NCIT:C118820 Adult Penile Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile cancer LEXMATCH +MONDO:0001325 penile cancer skos:exactMatch NCIT:C118820 Adult Penile Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym penile cancer LEXMATCH +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hormone resistance syndrome LEXMATCH +MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant lacrimal drainage system neoplasm LEXMATCH MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm LEXMATCH +MONDO:0001657 brain cancer skos:exactMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant brain neoplasm LEXMATCH +MONDO:0001672 bronchus cancer skos:exactMatch NCIT:C156885 Malignant Bronchial Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of bronchus LEXMATCH +MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria LEXMATCH +MONDO:0001744 angle-closure glaucoma skos:exactMatch NCIT:C34639 Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym angle closure glaucoma LEXMATCH +MONDO:0001744 angle-closure glaucoma skos:exactMatch NCIT:C34639 Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label angle closure glaucoma LEXMATCH +MONDO:0001868 primary angle-closure glaucoma skos:exactMatch NCIT:C34639 Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary angle closure glaucoma LEXMATCH +MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma of neck LEXMATCH +MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neck carcinoma LEXMATCH MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma LEXMATCH +MONDO:0002056 breast fibroadenoma skos:exactMatch NCIT:C4276 Juvenile Breast Fibroadenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile fibroadenoma LEXMATCH +MONDO:0002056 breast fibroadenoma skos:exactMatch NCIT:C4276 Juvenile Breast Fibroadenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile fibroadenoma of breast LEXMATCH +MONDO:0002056 breast fibroadenoma skos:exactMatch NCIT:C5194 Breast Complex Fibroadenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex fibroadenoma of breast LEXMATCH MONDO:0002063 obsolete breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0002066 breast adenomyoepithelioma skos:exactMatch NCIT:C5143 Malignant Breast Adenomyoepithelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast adenomyoepithelioma with malignant change LEXMATCH +MONDO:0002066 breast adenomyoepithelioma skos:exactMatch NCIT:C5143 Malignant Breast Adenomyoepithelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant adenomyoepithelioma of breast LEXMATCH +MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineal germ cell tumor LEXMATCH +MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineal region germ cell tumor LEXMATCH MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor LEXMATCH +MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant vascular neoplasm LEXMATCH +MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant vascular tumor LEXMATCH MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm LEXMATCH +MONDO:0002108 thyroid cancer skos:exactMatch NCIT:C118827 Childhood Thyroid Gland Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid gland cancer LEXMATCH +MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C114749 Childhood Undifferentiated Pleomorphic Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated pleomorphic sarcoma LEXMATCH +MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C114749 Childhood Undifferentiated Pleomorphic Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated pleomorphic sarcoma LEXMATCH +MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C7069 Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant cell neoplasm LEXMATCH MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C7069 Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell neoplasm LEXMATCH +MONDO:0002189 nodular hidradenoma skos:exactMatch NCIT:C205539 Solid Cystic Hidradenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid and cystic hidradenoma LEXMATCH +MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch NCIT:C35548 Monoclonal Gammopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monoclonal paraproteinemia LEXMATCH +MONDO:0002286 renal artery disease skos:exactMatch NCIT:C35338 Kidney Vascular Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal vascular disorder LEXMATCH +MONDO:0002360 chondroma skos:exactMatch NCIT:C3007 Enchondroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central chondroma LEXMATCH +MONDO:0002367 kidney cancer skos:exactMatch NCIT:C120456 Malignant Kidney Neoplasm Except Pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of kidney except pelvis LEXMATCH +MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch NCIT:C37264 Benign Kidney Mixed Epithelial and Stromal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mest LEXMATCH +MONDO:0002407 capillary hemangioma skos:exactMatch NCIT:C6645 Infantile Hemangioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym strawberry nevus LEXMATCH +MONDO:0002460 lacrimal system cancer skos:exactMatch NCIT:C175308 Malignant Lacrimal System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant lacrimal apparatus neoplasm LEXMATCH +MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch NCIT:C175610 Breast Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast neuroendocrine tumor LEXMATCH MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch NCIT:C175610 Breast Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast neuroendocrine tumor LEXMATCH +MONDO:0002501 brain glioblastoma skos:exactMatch NCIT:C147901 Childhood Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain glioblastoma LEXMATCH +MONDO:0002501 brain glioblastoma skos:exactMatch NCIT:C147901 Childhood Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain glioblastoma LEXMATCH +MONDO:0002501 brain glioblastoma skos:exactMatch NCIT:C9375 Adult Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain glioblastoma LEXMATCH +MONDO:0002501 brain glioblastoma skos:exactMatch NCIT:C9375 Adult Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain glioblastoma LEXMATCH +MONDO:0002513 kidney benign neoplasm skos:exactMatch NCIT:C7514 Kidney and Ureter Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal and ureteral tumor LEXMATCH +MONDO:0002544 brain oligodendroglioma skos:exactMatch NCIT:C114773 Childhood Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain oligodendroglioma LEXMATCH +MONDO:0002544 brain oligodendroglioma skos:exactMatch NCIT:C114773 Childhood Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain oligodendroglioma LEXMATCH +MONDO:0002544 brain oligodendroglioma skos:exactMatch NCIT:C9376 Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain oligodendroglioma LEXMATCH +MONDO:0002544 brain oligodendroglioma skos:exactMatch NCIT:C9376 Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain oligodendroglioma LEXMATCH +MONDO:0002592 invasive malignant thymoma skos:exactMatch NCIT:C6453 Invasive Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infiltrating thymoma LEXMATCH +MONDO:0002601 teratoma skos:exactMatch NCIT:C68626 Childhood Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teratoma LEXMATCH +MONDO:0002601 teratoma skos:exactMatch NCIT:C68626 Childhood Teratoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teratoma LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C114750 Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C114750 Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C114782 Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C114782 Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C115997 Localized Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C115997 Localized Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C115998 Localized Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C115998 Localized Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone LEXMATCH +MONDO:0002625 Ewing sarcoma of bone skos:exactMatch NCIT:C6623 Localized Bone Ewing Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym localized skeletal ewings sarcoma LEXMATCH +MONDO:0002629 bone osteosarcoma skos:exactMatch NCIT:C4834 Primary Bone Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary osteosarcoma of bone LEXMATCH +MONDO:0002688 duodenal obstruction skos:exactMatch NCIT:C79548 Duodenal Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal obstruction LEXMATCH +MONDO:0002691 liver cancer skos:exactMatch NCIT:C190593 Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant liver neoplasm LEXMATCH MONDO:0002691 liver cancer skos:exactMatch NCIT:C190593 Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant liver neoplasm LEXMATCH +MONDO:0002691 liver cancer skos:exactMatch NCIT:C7692 Resectable Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resectable malignant neoplasm of liver LEXMATCH +MONDO:0002691 liver cancer skos:exactMatch NCIT:C7708 Childhood Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant liver neoplasm LEXMATCH +MONDO:0002691 liver cancer skos:exactMatch NCIT:C7711 Adult Liver Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer LEXMATCH +MONDO:0002691 liver cancer skos:exactMatch NCIT:C7711 Adult Liver Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liver cancer LEXMATCH +MONDO:0002691 liver cancer skos:exactMatch NCIT:C8609 Malignant Hepatobiliary Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant hepato-biliary neoplasm LEXMATCH +MONDO:0002714 central nervous system cancer skos:exactMatch NCIT:C5448 Childhood Malignant Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant central nervous system neoplasm LEXMATCH +MONDO:0002718 central nervous system teratoma skos:exactMatch NCIT:C6204 Childhood Central Nervous System Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system teratoma LEXMATCH +MONDO:0002718 central nervous system teratoma skos:exactMatch NCIT:C6204 Childhood Central Nervous System Teratoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central nervous system teratoma LEXMATCH +MONDO:0002786 diencephalic cancer skos:exactMatch NCIT:C5125 Diencephalic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tumor of diencephalon LEXMATCH +MONDO:0002821 trabecular follicular adenocarcinoma skos:exactMatch NCIT:C46095 Solid/Trabecular Variant Thyroid Gland Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular adenocarcinoma, trabecular LEXMATCH +MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch NCIT:C7960 Childhood Rhabdomyosarcoma with Mixed Embryonal and Alveolar Features semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed alveolar rhabdomyosarcoma LEXMATCH +MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tricuspid regurgitation LEXMATCH +MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tricuspid valve regurgitation LEXMATCH +MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation LEXMATCH +MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical mixed epithelial and mesenchymal neoplasm LEXMATCH MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm LEXMATCH +MONDO:0002900 cerebral neuroblastoma skos:exactMatch NCIT:C114775 Childhood Central Nervous System Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system neuroblastoma LEXMATCH +MONDO:0002926 clear cell sarcoma skos:exactMatch NCIT:C27370 Adult Clear Cell Sarcoma of Soft Tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clear cell sarcoma of soft tissue LEXMATCH +MONDO:0002926 clear cell sarcoma skos:exactMatch NCIT:C27371 Childhood Clear Cell Sarcoma of Soft Tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clear cell sarcoma of soft tissue LEXMATCH +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal mixed tumor LEXMATCH +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed mesodermal (mullerian) tumor LEXMATCH +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian mixed tumor LEXMATCH MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor LEXMATCH +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant mixed mesodermal (mullerian) tumor LEXMATCH +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant mixed mullerian tumor LEXMATCH MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor LEXMATCH -MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch NCIT:C27481 Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0002937 nodular basal cell carcinoma skos:exactMatch NCIT:C62282 Skin Nodular Basal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular basal cell carcinoma LEXMATCH +MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch NCIT:C40222 Cervical Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrioid stromal sarcoma of the cervix LEXMATCH +MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch NCIT:C40222 Cervical Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrioid stromal sarcoma of the cervix LEXMATCH +MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch NCIT:C6448 Gastric Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germ cell tumor of the stomach LEXMATCH +MONDO:0003171 pineal gland astrocytoma skos:exactMatch NCIT:C115327 Adult Pineal Gland Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineal gland astrocytoma LEXMATCH +MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch NCIT:C4150 Basophilic Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basophil adenocarcinoma LEXMATCH +MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch NCIT:C4150 Basophilic Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basophil carcinoma LEXMATCH +MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C8265 Adult Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrahepatic bile duct cancer (cholangiocarcinoma) LEXMATCH +MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C96805 Small Duct Intrahepatic Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral cholangiocarcinoma LEXMATCH MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch NCIT:C4661 Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm LEXMATCH +MONDO:0003266 ependymal tumor skos:exactMatch NCIT:C115192 Childhood Ependymal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymal tumor LEXMATCH +MONDO:0003266 ependymal tumor skos:exactMatch NCIT:C115192 Childhood Ependymal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymal tumor LEXMATCH +MONDO:0003266 ependymal tumor skos:exactMatch NCIT:C68690 Adult Ependymal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymal tumor LEXMATCH +MONDO:0003266 ependymal tumor skos:exactMatch NCIT:C68690 Adult Ependymal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymal tumor LEXMATCH +MONDO:0003268 mixed glioma skos:exactMatch NCIT:C115195 Childhood Mixed Glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed glioma LEXMATCH +MONDO:0003268 mixed glioma skos:exactMatch NCIT:C115195 Childhood Mixed Glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed glioma LEXMATCH +MONDO:0003268 mixed glioma skos:exactMatch NCIT:C115250 Adult Mixed Glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed glioma LEXMATCH +MONDO:0003268 mixed glioma skos:exactMatch NCIT:C115250 Adult Mixed Glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed glioma LEXMATCH +MONDO:0003306 atypical neurofibroma skos:exactMatch NCIT:C178255 Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical neurofibroma LEXMATCH +MONDO:0003306 atypical neurofibroma skos:exactMatch NCIT:C178255 Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical neurofibroma LEXMATCH +MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch NCIT:C40271 Vaginal Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrioid stromal sarcoma of the vagina LEXMATCH +MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch NCIT:C40271 Vaginal Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrioid stromal sarcoma of the vagina LEXMATCH +MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch NCIT:C68628 Childhood Malignant Testicular Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant testicular germ cell tumor LEXMATCH +MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch NCIT:C68628 Childhood Malignant Testicular Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant testicular germ cell tumor LEXMATCH +MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubular apocrine adenoma LEXMATCH MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma LEXMATCH +MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C126112 Infant T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t acute lymphoblastic leukemia LEXMATCH +MONDO:0003638 lung meningioma skos:exactMatch NCIT:C5276 Primary Lung Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary pulmonary meningioma LEXMATCH +MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C5821 Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal neuroendocrine neoplasm LEXMATCH +MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C5821 Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine neoplasm of esophagus LEXMATCH MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C5821 Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal neuroendocrine neoplasm LEXMATCH +MONDO:0003671 septal myocardial infarction skos:exactMatch NCIT:C35519 Septal Myocardial Infarction by ECG Finding semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym septal myocardial infarction LEXMATCH +MONDO:0003723 blunt duct adenosis of breast skos:exactMatch NCIT:C54181 Columnar Cell Change of the Breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blunt duct adenosis of the breast LEXMATCH +MONDO:0003723 blunt duct adenosis of breast skos:exactMatch NCIT:C54181 Columnar Cell Change of the Breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast blunt duct adenosis LEXMATCH +MONDO:0003723 blunt duct adenosis of breast skos:exactMatch NCIT:C54181 Columnar Cell Change of the Breast semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blunt duct adenosis of breast LEXMATCH +MONDO:0003731 adult central nervous system teratoma skos:exactMatch NCIT:C6204 Childhood Central Nervous System Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system teratoma LEXMATCH +MONDO:0003766 thalamic cancer skos:exactMatch NCIT:C6221 Thalamic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tumor of thalamus LEXMATCH +MONDO:0003812 ovarian endometrial cancer skos:exactMatch NCIT:C6257 Ovarian Endometrioid Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrioid neoplasm of ovary LEXMATCH +MONDO:0003812 ovarian endometrial cancer skos:exactMatch NCIT:C6257 Ovarian Endometrioid Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian endometrioid neoplasm LEXMATCH +MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch NCIT:C191672 Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillary urothelial neoplasm of low malignant potential LEXMATCH MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch NCIT:C191672 Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papillary urothelial neoplasm of low malignant potential LEXMATCH +MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch NCIT:C27884 Bladder Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bladder papillary neoplasm of low malignant potential LEXMATCH +MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch NCIT:C27884 Bladder Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bladder punlmp LEXMATCH +MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch NCIT:C129527 Central Nervous System Solitary Fibrous Tumor, Grade 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system solitary fibrous tumor/hemangiopericytoma, grade type 3 LEXMATCH +MONDO:0003899 adult myxoid chondrosarcoma skos:exactMatch NCIT:C7924 Adult Extraskeletal Myxoid Chondrosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult myxoid chondrosarcoma LEXMATCH +MONDO:0003899 adult myxoid chondrosarcoma skos:exactMatch NCIT:C7924 Adult Extraskeletal Myxoid Chondrosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult myxoid chondrosarcoma LEXMATCH +MONDO:0003945 bone epithelioid hemangioma skos:exactMatch NCIT:C6477 Bone Hemangioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemangioma of bone LEXMATCH +MONDO:0003945 bone epithelioid hemangioma skos:exactMatch NCIT:C6477 Bone Hemangioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osseous hemangioma LEXMATCH MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch NCIT:C40257 Vaginal Tubular Adenoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7450 Intramuscular Lipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intramuscular lipoma LEXMATCH MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7450 Intramuscular Lipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intramuscular lipoma LEXMATCH +MONDO:0004180 benign urinary system neoplasm skos:exactMatch NCIT:C192667 Benign Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign urinary tract neoplasm LEXMATCH +MONDO:0004180 benign urinary system neoplasm skos:exactMatch NCIT:C192667 Benign Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign urinary tract tumor LEXMATCH MONDO:0004180 benign urinary system neoplasm skos:exactMatch NCIT:C192667 Benign Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign urinary tract neoplasm LEXMATCH +MONDO:0004182 stage IVb bladder cancer skos:exactMatch NCIT:C140426 Stage IVB Bladder Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage ivb bladder cancer LEXMATCH +MONDO:0004182 stage IVb bladder cancer skos:exactMatch NCIT:C140426 Stage IVB Bladder Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stage ivb bladder cancer LEXMATCH +MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch NCIT:C6772 Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric supratentorial ependymoblastoma LEXMATCH +MONDO:0004387 luteoma of pregnancy skos:exactMatch NCIT:C3202 Ovarian Stromal Luteoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym luteoma LEXMATCH MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch NCIT:C192096 Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma LEXMATCH +MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine corpus soft tissue neoplasm LEXMATCH MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm LEXMATCH +MONDO:0004557 congenital fibrosarcoma skos:exactMatch NCIT:C142823 Congenital Peribronchial Myofibroblastic Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital fibrosarcoma LEXMATCH +MONDO:0004557 congenital fibrosarcoma skos:exactMatch NCIT:C142823 Congenital Peribronchial Myofibroblastic Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital fibrosarcoma LEXMATCH +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch NCIT:C7054 Childhood Lymphocyte-Rich Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma LEXMATCH +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch NCIT:C7223 Adult Lymphocyte-Rich Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma LEXMATCH +MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch NCIT:C9283 Lymphocyte-Depleted Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-depleted classical hodgkin lymphoma LEXMATCH +MONDO:0004627 duodenitis skos:exactMatch NCIT:C22079 Acute Enteritis of the Mouse Intestinal Tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duodenitis LEXMATCH +MONDO:0004627 duodenitis skos:exactMatch NCIT:C22079 Acute Enteritis of the Mouse Intestinal Tract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym duodenitis LEXMATCH +MONDO:0004631 tongue cancer skos:exactMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancer of tongue LEXMATCH +MONDO:0004631 tongue cancer skos:exactMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tongue cancer LEXMATCH +MONDO:0004631 tongue cancer skos:exactMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tongue cancer LEXMATCH +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch NCIT:C8063 Childhood Mixed Cellularity Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma LEXMATCH +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch NCIT:C9127 Adult Mixed Cellularity Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma LEXMATCH +MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch NCIT:C84915 Necrotizing Enterocolitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym necrotizing enterocolitis in fetus or newborn LEXMATCH +MONDO:0004658 breast carcinoma in situ skos:exactMatch NCIT:C139534 Anatomic Stage 0 Breast Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 breast cancer LEXMATCH +MONDO:0004658 breast carcinoma in situ skos:exactMatch NCIT:C139555 Prognostic Stage 0 Breast Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 breast cancer LEXMATCH +MONDO:0004660 lung carcinoma in situ skos:exactMatch NCIT:C136469 Stage 0 Lung Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 lung cancer LEXMATCH +MONDO:0004663 colon carcinoma in situ skos:exactMatch NCIT:C134271 Stage 0 Colon Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 colon cancer LEXMATCH +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch NCIT:C8062 Childhood Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch NCIT:C8062 Childhood Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch NCIT:C9126 Adult Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch NCIT:C9126 Adult Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH +MONDO:0004696 larynx carcinoma in situ skos:exactMatch NCIT:C6121 Stage 0 Laryngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 laryngeal cancer ajcc v8 LEXMATCH +MONDO:0004703 bladder carcinoma in situ skos:exactMatch NCIT:C140418 Stage 0is Bladder Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is bladder cancer LEXMATCH +MONDO:0004703 bladder carcinoma in situ skos:exactMatch NCIT:C7895 Stage 0 Bladder Cancer AJCC v6 and v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 urinary bladder carcinoma LEXMATCH +MONDO:0004708 esophagus carcinoma in situ skos:exactMatch NCIT:C3637 Stage 0 Esophageal Cancer AJCC v6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 esophageal cancer LEXMATCH +MONDO:0004716 stomach carcinoma in situ skos:exactMatch NCIT:C133647 Clinical Stage 0 Gastric Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 gastric (stomach) cancer LEXMATCH +MONDO:0004716 stomach carcinoma in situ skos:exactMatch NCIT:C133654 Pathologic Stage 0 Gastric Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 gastric (stomach) cancer LEXMATCH +MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of submandibular gland LEXMATCH +MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant submandibular gland neoplasm LEXMATCH +MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant tumor of submandibular gland LEXMATCH +MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant tumor of the submandibular gland LEXMATCH MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm LEXMATCH +MONDO:0004725 rectum carcinoma in situ skos:exactMatch NCIT:C134291 Stage 0 Rectal Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 rectal cancer LEXMATCH +MONDO:0004938 substance dependence skos:exactMatch NCIT:C45996 Dependency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dependence LEXMATCH +MONDO:0004952 Hodgkins lymphoma skos:exactMatch NCIT:C7702 Adult Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin lymphoma LEXMATCH +MONDO:0004952 Hodgkins lymphoma skos:exactMatch NCIT:C7714 Childhood Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin lymphoma LEXMATCH +MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C27379 Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucin-producing adenocarcinoma LEXMATCH MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C27379 Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma LEXMATCH +MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch NCIT:C126112 Infant T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t acute lymphoblastic leukemia LEXMATCH +MONDO:0004972 adenoma skos:exactMatch NCIT:C4196 Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acinic cell adenoma LEXMATCH +MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym water-clear cell adenocarcinoma LEXMATCH MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma LEXMATCH +MONDO:0005035 ganglioneuroblastoma skos:exactMatch NCIT:C124271 Childhood Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ganglioneuroblastoma LEXMATCH +MONDO:0005035 ganglioneuroblastoma skos:exactMatch NCIT:C124271 Childhood Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ganglioneuroblastoma LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:exactMatch NCIT:C3551 Lung Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of lung LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:exactMatch NCIT:C4578 Conjunctival Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of conjunctiva LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:exactMatch NCIT:C4579 Corneal Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of cornea LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:exactMatch NCIT:C6749 Palate Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of palate LEXMATCH +MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch NCIT:C136713 Lung Keratinizing Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratinizing squamous cell carcinoma LEXMATCH +MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch NCIT:C136713 Lung Keratinizing Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keratinizing squamous cell carcinoma LEXMATCH +MONDO:0005058 leiomyosarcoma skos:exactMatch NCIT:C7810 Adult Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma LEXMATCH +MONDO:0005058 leiomyosarcoma skos:exactMatch NCIT:C7810 Adult Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leiomyosarcoma LEXMATCH +MONDO:0005058 leiomyosarcoma skos:exactMatch NCIT:C8093 Childhood Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma LEXMATCH +MONDO:0005058 leiomyosarcoma skos:exactMatch NCIT:C8093 Childhood Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leiomyosarcoma LEXMATCH +MONDO:0005061 lung adenocarcinoma skos:exactMatch NCIT:C27745 Non-Small Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonsmall cell adenocarcinoma LEXMATCH +MONDO:0005072 neuroblastoma skos:exactMatch NCIT:C124270 Childhood Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroblastoma LEXMATCH +MONDO:0005072 neuroblastoma skos:exactMatch NCIT:C124270 Childhood Neuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuroblastoma LEXMATCH +MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch NCIT:C121793 Undifferentiated Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated sarcoma LEXMATCH +MONDO:0005103 well-differentiated liposarcoma skos:exactMatch NCIT:C176981 Atypical Lipomatous Tumor/Well Differentiated Liposarcoma of Deep Soft Tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well differentiated liposarcoma of deep soft tissue LEXMATCH +MONDO:0005104 aJCC grade 1 sarcoma skos:exactMatch NCIT:C9024 Sarcoma G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ajcc grade type 1 sarcoma LEXMATCH +MONDO:0005104 aJCC grade 1 sarcoma skos:exactMatch NCIT:C9024 Sarcoma G1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ajcc grade type 1 sarcoma LEXMATCH +MONDO:0005164 fibrosarcoma skos:exactMatch NCIT:C6605 Soft Tissue Fibrosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrosarcoma of soft tissue LEXMATCH +MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch NCIT:C50101 Pin Device semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pin LEXMATCH +MONDO:0005212 rhabdomyosarcoma skos:exactMatch NCIT:C7705 Childhood Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhabdomyosarcoma LEXMATCH +MONDO:0005212 rhabdomyosarcoma skos:exactMatch NCIT:C7705 Childhood Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhabdomyosarcoma LEXMATCH +MONDO:0005212 rhabdomyosarcoma skos:exactMatch NCIT:C9130 Adult Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhabdomyosarcoma LEXMATCH +MONDO:0005212 rhabdomyosarcoma skos:exactMatch NCIT:C9130 Adult Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhabdomyosarcoma LEXMATCH +MONDO:0005233 non-small cell lung carcinoma skos:exactMatch NCIT:C91445 Non-Small Cell Lung Cancer Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-small cell lung cancer LEXMATCH +MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoid tumor LEXMATCH +MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carcinoid tumor LEXMATCH +MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C203250 Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net g1 LEXMATCH +MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C203250 Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumor g1 LEXMATCH MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C203250 Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor g1 LEXMATCH +MONDO:0005412 duodenal ulcer skos:exactMatch NCIT:C35263 Stress Ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym curling ulcer LEXMATCH +MONDO:0005461 endometrium adenocarcinoma skos:exactMatch NCIT:C6290 Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial adenoacanthoma LEXMATCH +MONDO:0005461 endometrium adenocarcinoma skos:exactMatch NCIT:C6290 Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial endometrioid adenocarcinoma with squamous differentiation LEXMATCH +MONDO:0005499 brain glioma skos:exactMatch NCIT:C162993 Malignant Brain Glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain malignant glioma LEXMATCH +MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch NCIT:C9350 Peritoneal Malignant Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant mesothelioma of peritoneum LEXMATCH +MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch NCIT:C9350 Peritoneal Malignant Mesothelioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant peritoneal mesothelioma LEXMATCH +MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genital warts LEXMATCH +MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venereal wart LEXMATCH +MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios LEXMATCH +MONDO:0006025 autosomal recessive disease skos:exactMatch NCIT:C85866 Autosomal Recessive Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive disorder LEXMATCH +MONDO:0006036 granulosa cell tumor skos:exactMatch NCIT:C66750 Adult Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulosa cell tumor, adult type LEXMATCH +MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch NCIT:C27789 Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hyperplasia of endometrium LEXMATCH +MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch NCIT:C27789 Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hyperplasia of the endometrium LEXMATCH +MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch NCIT:C27789 Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial hyperplasia with atypia LEXMATCH +MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch NCIT:C27789 Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical endometrial hyperplasia LEXMATCH +MONDO:0006097 atypical lipomatous tumor skos:exactMatch NCIT:C176979 Lipoma-Like Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoma-like liposarcoma LEXMATCH +MONDO:0006097 atypical lipomatous tumor skos:exactMatch NCIT:C176980 Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial well differentiated liposarcoma LEXMATCH +MONDO:0006097 atypical lipomatous tumor skos:exactMatch NCIT:C176980 Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well differentiated liposarcoma of superficial soft tissue LEXMATCH +MONDO:0006130 central nervous system neoplasm skos:exactMatch NCIT:C5131 Adult Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system neoplasm LEXMATCH +MONDO:0006130 central nervous system neoplasm skos:exactMatch NCIT:C5131 Adult Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central nervous system neoplasm LEXMATCH +MONDO:0006130 central nervous system neoplasm skos:exactMatch NCIT:C5132 Childhood Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system neoplasm LEXMATCH +MONDO:0006130 central nervous system neoplasm skos:exactMatch NCIT:C5132 Childhood Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central nervous system neoplasm LEXMATCH +MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch NCIT:C114992 Adult Fibrolamellar Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrolamellar cancer LEXMATCH +MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch NCIT:C95465 Pancreatic Hepatoid Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoid carcinoma LEXMATCH +MONDO:0006295 malignant urinary system neoplasm skos:exactMatch NCIT:C192668 Malignant Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant urinary tract neoplasm LEXMATCH MONDO:0006295 malignant urinary system neoplasm skos:exactMatch NCIT:C192668 Malignant Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant urinary tract neoplasm LEXMATCH MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm skos:exactMatch NCIT:C37005 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paranasal sinus olfactory neuroblastoma LEXMATCH MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma LEXMATCH +MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicystic mesothelioma LEXMATCH MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma LEXMATCH +MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant thymoma LEXMATCH +MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thymoma, malignant LEXMATCH MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma LEXMATCH +MONDO:0006460 thyroglossal duct cyst skos:exactMatch NCIT:C85189 Thyroglossal Duct Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroglossal duct cyst LEXMATCH +MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch NCIT:C187995 Thyroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid gland carcinosarcoma LEXMATCH MONDO:0006475 obsolete unclassified renal cell carcinoma skos:exactMatch NCIT:C27892 Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0006519 rectal cancer skos:exactMatch NCIT:C118823 Childhood Rectal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal cancer LEXMATCH +MONDO:0006519 rectal cancer skos:exactMatch NCIT:C118823 Childhood Rectal Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rectal cancer LEXMATCH +MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C35549 Hypoxic Ischemic Encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hie LEXMATCH +MONDO:0006715 coronary stenosis skos:exactMatch NCIT:C80427 Coronary Artery Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coronary artery stenosis LEXMATCH +MONDO:0006715 coronary stenosis skos:exactMatch NCIT:C80427 Coronary Artery Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary artery stenosis LEXMATCH +MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrohistiocytic neoplasm LEXMATCH MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm LEXMATCH +MONDO:0006738 eccrine acrospiroma skos:exactMatch NCIT:C205462 Eccrine Poroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eccrine poroma LEXMATCH MONDO:0006738 eccrine acrospiroma skos:exactMatch NCIT:C205462 Eccrine Poroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eccrine poroma LEXMATCH +MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch NCIT:C126998 Uterine Corpus High Grade Endometrial Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial stromal sarcoma, high grade LEXMATCH +MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch NCIT:C84686 Empty Sella Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym empty sella syndrome LEXMATCH +MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch NCIT:C84686 Empty Sella Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label empty sella syndrome LEXMATCH +MONDO:0006810 intracranial hypertension skos:exactMatch NCIT:C84791 Intracranial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intracranial hypertension LEXMATCH +MONDO:0006891 partial motor epilepsy skos:exactMatch NCIT:C50847 Partial Motor Seizure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym focal motor seizure LEXMATCH +MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension LEXMATCH +MONDO:0007243 Burkitt lymphoma skos:exactMatch NCIT:C9062 Adult Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burkitt lymphoma LEXMATCH +MONDO:0007243 Burkitt lymphoma skos:exactMatch NCIT:C9062 Adult Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym burkitt lymphoma LEXMATCH +MONDO:0007243 Burkitt lymphoma skos:exactMatch NCIT:C9095 Childhood Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burkitt lymphoma LEXMATCH +MONDO:0007243 Burkitt lymphoma skos:exactMatch NCIT:C9095 Childhood Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym burkitt lymphoma LEXMATCH +MONDO:0007254 breast cancer skos:exactMatch NCIT:C118809 Childhood Breast Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast cancer LEXMATCH +MONDO:0007254 breast cancer skos:exactMatch NCIT:C118809 Childhood Breast Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym breast cancer LEXMATCH +MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch NCIT:C51230 TGFBI wt Allele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lcd1 LEXMATCH +MONDO:0007576 esophageal cancer skos:exactMatch NCIT:C118812 Childhood Esophageal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal cancer LEXMATCH +MONDO:0007576 esophageal cancer skos:exactMatch NCIT:C118812 Childhood Esophageal Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym esophageal cancer LEXMATCH +MONDO:0007667 subependymoma skos:exactMatch NCIT:C115623 Adult Subependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subependymoma LEXMATCH +MONDO:0007667 subependymoma skos:exactMatch NCIT:C115623 Adult Subependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymoma LEXMATCH +MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C84703 Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy LEXMATCH +MONDO:0007896 acute monocytic leukemia skos:exactMatch NCIT:C7318 Acute Monoblastic and Monocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute monoblastic leukemia and acute monocytic leukemia LEXMATCH +MONDO:0007896 acute monocytic leukemia skos:exactMatch NCIT:C9163 Childhood Acute Monocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute monocytic leukemia LEXMATCH +MONDO:0007896 acute monocytic leukemia skos:exactMatch NCIT:C9163 Childhood Acute Monocytic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute monocytic leukemia LEXMATCH +MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch NCIT:C84914 Myotonic Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy LEXMATCH +MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch NCIT:C84914 Myotonic Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotonic dystrophy LEXMATCH +MONDO:0008145 Ollier disease skos:exactMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondromatosis LEXMATCH +MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch NCIT:C36205 Peutz-Jeghers Polyp of the Stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric peutz-jeghers polyp LEXMATCH +MONDO:0008375 retinal detachment skos:exactMatch NCIT:C55886 Retinal Detachment, CTCAE 3.0 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal detachment LEXMATCH +MONDO:0008375 retinal detachment skos:exactMatch NCIT:C55886 Retinal Detachment, CTCAE 3.0 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinal detachment LEXMATCH +MONDO:0008698 achalasia skos:exactMatch NCIT:C84699 Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achalasia of cardia LEXMATCH +MONDO:0008698 achalasia skos:exactMatch NCIT:C84699 Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal achalasia LEXMATCH +MONDO:0008698 achalasia skos:exactMatch NCIT:C84699 Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal achalasia LEXMATCH +MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch NCIT:C6894 Malignant Solitary Fibrous Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant hemangiopericytoma LEXMATCH +MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch NCIT:C69138 Adult Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym classical hodgkin lymphoma LEXMATCH +MONDO:0009692 primary myelofibrosis skos:exactMatch NCIT:C188314 Chronic Phase Primary Myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic myelofibrosis LEXMATCH +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch NCIT:C91446 Pancreatic Cancer Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic cancer LEXMATCH +MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch NCIT:C45630 Diffuse Pulmonary Lymphangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse pulmonary lymphangiomatosis LEXMATCH MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch NCIT:C45630 Diffuse Pulmonary Lymphangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse pulmonary lymphangiomatosis LEXMATCH +MONDO:0009958 adult Refsum disease skos:exactMatch NCIT:C85043 Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym refsum disorder LEXMATCH +MONDO:0009958 adult Refsum disease skos:exactMatch NCIT:C85043 Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disorder LEXMATCH +MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch NCIT:C7957 Childhood Embryonal Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonal rhabdomyosarcoma LEXMATCH +MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch NCIT:C7957 Childhood Embryonal Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym embryonal rhabdomyosarcoma LEXMATCH +MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch NCIT:C7958 Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar childhood rhabdomyosarcoma LEXMATCH +MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch NCIT:C7958 Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar rhabdomyosarcoma LEXMATCH +MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch NCIT:C7958 Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric alveolar rhabdomyosarcoma LEXMATCH +MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch NCIT:C7958 Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar rhabdomyosarcoma LEXMATCH +MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym korsakoff syndrome LEXMATCH +MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome LEXMATCH +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NCIT:C35261 Congenital Adrenal Gland Hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia LEXMATCH +MONDO:0010434 synovial sarcoma skos:exactMatch NCIT:C7817 Adult Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synovial sarcoma LEXMATCH +MONDO:0010434 synovial sarcoma skos:exactMatch NCIT:C7817 Adult Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym synovial sarcoma LEXMATCH +MONDO:0010434 synovial sarcoma skos:exactMatch NCIT:C8089 Childhood Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synovial sarcoma LEXMATCH +MONDO:0010434 synovial sarcoma skos:exactMatch NCIT:C8089 Childhood Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym synovial sarcoma LEXMATCH +MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch NCIT:C142825 Pulmonary Artery Intimal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pais LEXMATCH +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch NCIT:C51152 CDH3 wt Allele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hjmd LEXMATCH +MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar soft part sarcoma LEXMATCH +MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar soft part sarcoma LEXMATCH +MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch NCIT:C123906 Childhood Gastrointestinal Stromal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastrointestinal stromal tumor (gist) LEXMATCH +MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch NCIT:C27940 Gastrointestinal Autonomic Nerve Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gant LEXMATCH +MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch NCIT:C35778 Gastrointestinal Stromal Tumor of the Gastrointestinal Tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stromal tumor of gastrointestinal tract LEXMATCH +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch NCIT:C71920 Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clam LEXMATCH +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch NCIT:C71920 Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clam LEXMATCH +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NCIT:C7320 Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic myelogenous leukemia (cml) LEXMATCH +MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch NCIT:C7924 Adult Extraskeletal Myxoid Chondrosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym extraskeletal myxoid chondrosarcoma LEXMATCH +MONDO:0012883 acute promyelocytic leukemia skos:exactMatch NCIT:C7968 Childhood Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute promyelocytic leukemia with pml-rara LEXMATCH +MONDO:0012883 acute promyelocytic leukemia skos:exactMatch NCIT:C9155 Adult Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute promyelocytic leukemia with pml-rara LEXMATCH +MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch NCIT:C95466 Pancreatic Medullary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary carcinoma LEXMATCH MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch NCIT:C199391 Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis LEXMATCH MONDO:0015391 nasopharyngeal teratoma skos:exactMatch NCIT:C202982 Nasopharyngeal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal teratoma LEXMATCH +MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch NCIT:C114923 Adult Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epithelioid hemangioendothelioma LEXMATCH +MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch NCIT:C114923 Adult Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epithelioid hemangioendothelioma LEXMATCH +MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch NCIT:C114926 Childhood Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epithelioid hemangioendothelioma LEXMATCH +MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch NCIT:C114926 Childhood Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epithelioid hemangioendothelioma LEXMATCH +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch NCIT:C85864 Neuronal Ceroid Lipofuscinosis Type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym late infantile neuronal ceroid lipofuscinosis LEXMATCH +MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C4182 Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous surface papillary carcinoma LEXMATCH MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C4182 Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma LEXMATCH +MONDO:0016057 isolated encephalocele skos:exactMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalocele LEXMATCH +MONDO:0016057 isolated encephalocele skos:exactMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele LEXMATCH +MONDO:0016222 spindle cell hemangioma skos:exactMatch NCIT:C176467 Synovial Chondrosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sch LEXMATCH +MONDO:0016222 spindle cell hemangioma skos:exactMatch NCIT:C205539 Solid Cystic Hidradenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sch LEXMATCH +MONDO:0016226 specific language disorder skos:exactMatch NCIT:C35546 Dysphasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysphasia LEXMATCH +MONDO:0016226 specific language disorder skos:exactMatch NCIT:C35546 Dysphasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysphasia LEXMATCH +MONDO:0016546 primary orthostatic tremor skos:exactMatch NCIT:C173819 Primordial Odontogenic Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pot LEXMATCH +MONDO:0016642 meningioma skos:exactMatch NCIT:C9093 Adult Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningioma LEXMATCH +MONDO:0016642 meningioma skos:exactMatch NCIT:C9093 Adult Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningioma LEXMATCH +MONDO:0016681 gliosarcoma skos:exactMatch NCIT:C114968 Childhood Gliosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gliosarcoma LEXMATCH +MONDO:0016681 gliosarcoma skos:exactMatch NCIT:C114968 Childhood Gliosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gliosarcoma LEXMATCH +MONDO:0016681 gliosarcoma skos:exactMatch NCIT:C68701 Adult Gliosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gliosarcoma LEXMATCH +MONDO:0016681 gliosarcoma skos:exactMatch NCIT:C68701 Adult Gliosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gliosarcoma LEXMATCH +MONDO:0016682 giant cell glioblastoma skos:exactMatch NCIT:C114966 Childhood Giant Cell Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym giant cell glioblastoma LEXMATCH +MONDO:0016682 giant cell glioblastoma skos:exactMatch NCIT:C68702 Adult Giant Cell Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym giant cell glioblastoma LEXMATCH +MONDO:0016683 gliomatosis cerebri skos:exactMatch NCIT:C114969 Childhood Gliomatosis Cerebri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gliomatosis cerebri LEXMATCH +MONDO:0016683 gliomatosis cerebri skos:exactMatch NCIT:C114969 Childhood Gliomatosis Cerebri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gliomatosis cerebri LEXMATCH +MONDO:0016684 anaplastic astrocytoma skos:exactMatch NCIT:C6215 Childhood Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic astrocytoma LEXMATCH +MONDO:0016684 anaplastic astrocytoma skos:exactMatch NCIT:C6215 Childhood Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic astrocytoma LEXMATCH +MONDO:0016684 anaplastic astrocytoma skos:exactMatch NCIT:C8257 Adult Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic astrocytoma LEXMATCH +MONDO:0016684 anaplastic astrocytoma skos:exactMatch NCIT:C8257 Adult Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic astrocytoma LEXMATCH +MONDO:0016686 diffuse astrocytoma skos:exactMatch NCIT:C114967 Childhood Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse astrocytoma LEXMATCH +MONDO:0016686 diffuse astrocytoma skos:exactMatch NCIT:C114967 Childhood Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse astrocytoma LEXMATCH +MONDO:0016686 diffuse astrocytoma skos:exactMatch NCIT:C7174 Adult Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse astrocytoma LEXMATCH +MONDO:0016686 diffuse astrocytoma skos:exactMatch NCIT:C7174 Adult Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym who grade ii astrocytoma LEXMATCH +MONDO:0016686 diffuse astrocytoma skos:exactMatch NCIT:C7174 Adult Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse astrocytoma LEXMATCH +MONDO:0016687 protoplasmic astrocytoma skos:exactMatch NCIT:C114972 Childhood Protoplasmic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protoplasmic astrocytoma LEXMATCH +MONDO:0016687 protoplasmic astrocytoma skos:exactMatch NCIT:C114972 Childhood Protoplasmic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protoplasmic astrocytoma LEXMATCH +MONDO:0016688 fibrillary astrocytoma skos:exactMatch NCIT:C114963 Childhood Fibrillary Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrillary astrocytoma LEXMATCH +MONDO:0016688 fibrillary astrocytoma skos:exactMatch NCIT:C114963 Childhood Fibrillary Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrillary astrocytoma LEXMATCH +MONDO:0016689 gemistocytic astrocytoma skos:exactMatch NCIT:C114964 Childhood Gemistocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gemistocytic astrocytoma LEXMATCH +MONDO:0016689 gemistocytic astrocytoma skos:exactMatch NCIT:C114964 Childhood Gemistocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gemistocytic astrocytoma LEXMATCH +MONDO:0016690 pleomorphic xanthoastrocytoma skos:exactMatch NCIT:C114971 Childhood Pleomorphic Xanthoastrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pleomorphic xanthoastrocytoma LEXMATCH +MONDO:0016691 pilocytic astrocytoma skos:exactMatch NCIT:C71016 Adult Pilocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pilocytic astrocytoma LEXMATCH +MONDO:0016691 pilocytic astrocytoma skos:exactMatch NCIT:C71016 Adult Pilocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pilocytic astrocytoma LEXMATCH +MONDO:0016692 pilomyxoid astrocytoma skos:exactMatch NCIT:C114970 Childhood Pilomyxoid Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pilomyxoid astrocytoma LEXMATCH +MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch NCIT:C114785 Childhood Subependymal Giant Cell Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymal giant cell astrocytoma LEXMATCH +MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch NCIT:C71017 Adult Subependymal Giant Cell Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymal giant cell astrocytoma LEXMATCH +MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch NCIT:C5447 Childhood Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic oligodendroglioma LEXMATCH +MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch NCIT:C5447 Childhood Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic oligodendroglioma LEXMATCH +MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch NCIT:C8270 Adult Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic oligodendroglioma LEXMATCH +MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch NCIT:C8270 Adult Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic oligodendroglioma LEXMATCH +MONDO:0016698 ependymoma skos:exactMatch NCIT:C9092 Adult Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymoma LEXMATCH +MONDO:0016698 ependymoma skos:exactMatch NCIT:C9092 Adult Ependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymoma LEXMATCH +MONDO:0016699 myxopapillary ependymoma skos:exactMatch NCIT:C115263 Adult Myxopapillary Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myxopapillary ependymoma LEXMATCH +MONDO:0016699 myxopapillary ependymoma skos:exactMatch NCIT:C115263 Adult Myxopapillary Ependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myxopapillary ependymoma LEXMATCH +MONDO:0016700 anaplastic ependymoma skos:exactMatch NCIT:C124293 Childhood Anaplastic Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic ependymoma LEXMATCH +MONDO:0016700 anaplastic ependymoma skos:exactMatch NCIT:C124293 Childhood Anaplastic Ependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic ependymoma LEXMATCH +MONDO:0016702 oligoastrocytoma skos:exactMatch NCIT:C114974 Childhood Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligoastrocytoma LEXMATCH +MONDO:0016702 oligoastrocytoma skos:exactMatch NCIT:C114974 Childhood Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligoastrocytoma LEXMATCH +MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch NCIT:C114973 Childhood Anaplastic Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic oligoastrocytoma LEXMATCH +MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch NCIT:C114973 Childhood Anaplastic Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic oligoastrocytoma LEXMATCH +MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C115203 Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonal tumor with multilayered rosettes, c19mc-altered LEXMATCH +MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonal tumor with multilayered rosettes LEXMATCH MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes LEXMATCH +MONDO:0016717 choroid plexus neoplasm skos:exactMatch NCIT:C42080 Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroid plexus neoplasm LEXMATCH +MONDO:0016717 choroid plexus neoplasm skos:exactMatch NCIT:C42080 Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus neoplasm LEXMATCH +MONDO:0016722 pineoblastoma skos:exactMatch NCIT:C114812 Childhood Pineoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineoblastoma LEXMATCH +MONDO:0016722 pineoblastoma skos:exactMatch NCIT:C114812 Childhood Pineoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineoblastoma LEXMATCH +MONDO:0016723 pineocytoma skos:exactMatch NCIT:C8291 Adult Pineocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineocytoma LEXMATCH +MONDO:0016723 pineocytoma skos:exactMatch NCIT:C8291 Adult Pineocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineocytoma LEXMATCH +MONDO:0016733 ganglioglioma skos:exactMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ganglioglioma LEXMATCH +MONDO:0016733 ganglioglioma skos:exactMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ganglioglioma LEXMATCH +MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C180887 Infantile Myofibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hemangiopericytoma LEXMATCH +MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hemangiopericytoma LEXMATCH MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma LEXMATCH +MONDO:0016982 angiosarcoma skos:exactMatch NCIT:C9040 Adult Angiosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym angiosarcoma LEXMATCH +MONDO:0016982 angiosarcoma skos:exactMatch NCIT:C9040 Adult Angiosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angiosarcoma LEXMATCH +MONDO:0016996 NK-cell enteropathy skos:exactMatch NCIT:C200037 Indolent NK-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nk-cell enteropathy LEXMATCH MONDO:0017289 fetal lung interstitial tumor skos:exactMatch NCIT:C190105 Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor LEXMATCH MONDO:0017308 obsolete Marfan syndrome type 2 skos:exactMatch NCIT:C75007 Marfan Syndrome Type II semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017319 hereditary elliptocytosis skos:exactMatch NCIT:C85242 Helium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym he LEXMATCH +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch NCIT:C27365 Adult Primary Cutaneous Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary cutaneous anaplastic large cell lymphoma LEXMATCH +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch NCIT:C162304 EBV-Related Gastric Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebv-associated gastric carcinoma LEXMATCH +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch NCIT:C162304 EBV-Related Gastric Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebvagc LEXMATCH +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch NCIT:C162304 EBV-Related Gastric Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epstein-barr virus-associated gastric carcinoma LEXMATCH +MONDO:0017844 Sezary syndrome skos:exactMatch NCIT:C35300 Sheehan Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sheehan syndrome LEXMATCH +MONDO:0017844 Sezary syndrome skos:exactMatch NCIT:C35300 Sheehan Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sheehan syndrome LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C9153 Adult Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute erythroid leukemia LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C9153 Adult Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute erythroid leukemia LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C9164 Childhood Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute erythroid leukemia LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C9164 Childhood Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute erythroid leukemia LEXMATCH +MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sporadic papillary renal cell carcinoma LEXMATCH MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma LEXMATCH +MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch NCIT:C154494 Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mit family translocation renal cell carcinoma LEXMATCH +MONDO:0018017 goblet cell carcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goblet cell adenocarcinoma LEXMATCH +MONDO:0018017 goblet cell carcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goblet cell carcinoid LEXMATCH MONDO:0018017 goblet cell carcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goblet cell adenocarcinoma LEXMATCH +MONDO:0018078 soft tissue sarcoma skos:exactMatch NCIT:C115292 Localized Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soft tissue sarcoma LEXMATCH +MONDO:0018078 soft tissue sarcoma skos:exactMatch NCIT:C115292 Localized Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym soft tissue sarcoma LEXMATCH +MONDO:0018078 soft tissue sarcoma skos:exactMatch NCIT:C7707 Adult Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soft tissue sarcoma LEXMATCH +MONDO:0018078 soft tissue sarcoma skos:exactMatch NCIT:C7707 Adult Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym soft tissue sarcoma LEXMATCH +MONDO:0018078 soft tissue sarcoma skos:exactMatch NCIT:C7715 Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soft tissue sarcoma LEXMATCH +MONDO:0018078 soft tissue sarcoma skos:exactMatch NCIT:C7715 Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym soft tissue sarcoma LEXMATCH +MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch NCIT:C68629 Childhood Malignant Ovarian Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant ovarian germ cell tumor LEXMATCH +MONDO:0018177 glioblastoma skos:exactMatch NCIT:C39750 Glioblastoma, IDH-Wildtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary glioblastoma multiforme LEXMATCH +MONDO:0018177 glioblastoma skos:exactMatch NCIT:C5097 Brain Stem Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma multiforme LEXMATCH +MONDO:0018177 glioblastoma skos:exactMatch NCIT:C5136 Childhood Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma LEXMATCH +MONDO:0018177 glioblastoma skos:exactMatch NCIT:C5136 Childhood Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glioblastoma LEXMATCH +MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant ovarian teratoma LEXMATCH MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma LEXMATCH +MONDO:0018448 clear cell papillary renal cell carcinoma skos:exactMatch NCIT:C121955 Clear Cell Papillary Renal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clear cell papillary renal cell carcinoma LEXMATCH +MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym remnant hyperlipidemia LEXMATCH MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia LEXMATCH +MONDO:0018535 biliary cystadenocarcinoma skos:exactMatch NCIT:C96947 Intrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrahepatic bile duct cystadenocarcinoma LEXMATCH +MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cerebral sclerosis of schilder LEXMATCH +MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cerebral sclerosis of schilder LEXMATCH +MONDO:0018744 oligodendroglial tumor skos:exactMatch NCIT:C68691 Adult Oligodendroglial Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodendroglial tumor LEXMATCH +MONDO:0018744 oligodendroglial tumor skos:exactMatch NCIT:C68691 Adult Oligodendroglial Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglial tumor LEXMATCH +MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:exactMatch NCIT:C183115 Thoracic SMARCA4-Deficient Undifferentiated Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smarca4-deficient thoracic sarcoma LEXMATCH +MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch NCIT:C7962 Adult Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myelomonocytic leukemia LEXMATCH +MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch NCIT:C7970 Childhood Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myelomonocytic leukemia LEXMATCH +MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NCIT:C7965 Adult Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute megakaryoblastic leukemia LEXMATCH +MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NCIT:C7965 Adult Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute megakaryoblastic leukemia LEXMATCH +MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NCIT:C7972 Childhood Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute megakaryoblastic leukemia LEXMATCH +MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NCIT:C7972 Childhood Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute megakaryoblastic leukemia LEXMATCH +MONDO:0018874 acute myeloid leukemia skos:exactMatch NCIT:C9154 Adult Acute Myeloid Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloid leukemia (aml) LEXMATCH +MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C115153 Adult Myelodysplastic Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelodysplastic syndrome LEXMATCH +MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C115153 Adult Myelodysplastic Syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelodysplastic syndrome LEXMATCH +MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelodysplastic syndrome, unclassifiable LEXMATCH MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable LEXMATCH +MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch NCIT:C7195 Primary Cutaneous CD30-Positive T-Cell Lymphoproliferative Disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary cutaneous cd30+ t-cell lymphoproliferative disorder LEXMATCH +MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch NCIT:C7615 Adult Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse large b-cell lymphoma LEXMATCH +MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch NCIT:C7615 Adult Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse large b-cell lymphoma LEXMATCH +MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch NCIT:C7616 Childhood Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse large b-cell lymphoma LEXMATCH +MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch NCIT:C7616 Childhood Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse large b-cell lymphoma LEXMATCH +MONDO:0018907 craniopharyngioma skos:exactMatch NCIT:C4010 Adult Craniopharyngioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym craniopharyngioma LEXMATCH +MONDO:0018907 craniopharyngioma skos:exactMatch NCIT:C7816 Childhood Craniopharyngioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym craniopharyngioma LEXMATCH +MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch NCIT:C7704 Adult Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma LEXMATCH +MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch NCIT:C7704 Adult Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma LEXMATCH +MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch NCIT:C7706 Childhood Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma LEXMATCH +MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch NCIT:C7706 Childhood Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma LEXMATCH +MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch NCIT:C91449 Maturity Onset Diabetes of the Young Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maturity onset diabetes of the young LEXMATCH +MONDO:0019086 carcinoma of esophagus skos:exactMatch NCIT:C118812 Childhood Esophageal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal cancer LEXMATCH +MONDO:0019087 cholangiocarcinoma skos:exactMatch NCIT:C8265 Adult Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult primary cholangiocarcinoma LEXMATCH +MONDO:0019087 cholangiocarcinoma skos:exactMatch NCIT:C8265 Adult Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult primary cholangiocellular carcinoma LEXMATCH +MONDO:0019171 familial long QT syndrome skos:exactMatch NCIT:C85049 Long QT Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward syndrome LEXMATCH +MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch NCIT:C173385 Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous neuroendocrine carcinoma LEXMATCH +MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch NCIT:C173385 Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine carcinoma of skin LEXMATCH +MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch NCIT:C173385 Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine carcinoma of the skin LEXMATCH +MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch NCIT:C173385 Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trabecular skin carcinoma LEXMATCH +MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch NCIT:C173385 Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cutaneous neuroendocrine carcinoma LEXMATCH +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santavuori disorder LEXMATCH +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile neuronal ceroid lipofuscinosis LEXMATCH +MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NCIT:C27372 Childhood Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic small round cell tumor LEXMATCH +MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NCIT:C27372 Childhood Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic small round cell tumor LEXMATCH +MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NCIT:C27373 Adult Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic small round cell tumor LEXMATCH +MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NCIT:C27373 Adult Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic small round cell tumor LEXMATCH +MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C3819 Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary amyloidosis LEXMATCH MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C3819 Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary amyloidosis LEXMATCH +MONDO:0019458 acute basophilic leukemia skos:exactMatch NCIT:C7964 Adult Acute Basophilic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute basophilic leukemia LEXMATCH +MONDO:0019458 acute basophilic leukemia skos:exactMatch NCIT:C7971 Childhood Acute Basophilic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute basophilic leukemia LEXMATCH +MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cll, t-cell LEXMATCH +MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t cell chronic lymphocytic leukemia LEXMATCH +MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t cell cll LEXMATCH +MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-cell chronic lymphocytic leukemia LEXMATCH +MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-cell cll LEXMATCH MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t-cell chronic lymphocytic leukemia LEXMATCH +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch NCIT:C115154 Adult Nasal Type Extranodal NK/T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasal type extranodal nk/t-cell lymphoma LEXMATCH +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch NCIT:C68692 Childhood Nasal Type Extranodal NK/T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasal type extranodal nk/t-cell lymphoma LEXMATCH +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C150495 Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal t-cell lymphoma LEXMATCH MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C150495 Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal t-cell lymphoma LEXMATCH +MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apudoma LEXMATCH +MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumor LEXMATCH MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor LEXMATCH +MONDO:0019499 Turner syndrome skos:exactMatch NCIT:C85210 XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xo syndrome LEXMATCH +MONDO:0019499 Turner syndrome skos:exactMatch NCIT:C85210 XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xo syndrome LEXMATCH MONDO:0019500 extragonadal teratoma skos:exactMatch NCIT:C189045 Extragonadal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal teratoma LEXMATCH +MONDO:0019635 idiopathic achalasia skos:exactMatch NCIT:C84699 Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achalasia cardia LEXMATCH +MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch NCIT:C124275 Childhood Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytoma LEXMATCH +MONDO:0019960 VIPoma skos:exactMatch NCIT:C65189 Malignant Vipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vipoma, malignant LEXMATCH MONDO:0019964 thymic neuroendocrine tumor skos:exactMatch NCIT:C6430 Thymic Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine tumor LEXMATCH MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch NCIT:C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:exactMatch NCIT:C150672 Immunodeficiency-Related Lymphoproliferative Disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency-associated lymphoproliferative disorder LEXMATCH +MONDO:0020321 acute undifferentiated leukemia skos:exactMatch NCIT:C126110 Infant Acute Undifferentiated Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute undifferentiated leukemia LEXMATCH +MONDO:0020321 acute undifferentiated leukemia skos:exactMatch NCIT:C126110 Infant Acute Undifferentiated Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute undifferentiated leukemia LEXMATCH +MONDO:0020322 acute biphenotypic leukemia skos:exactMatch NCIT:C126111 Infant Acute Biphenotypic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute biphenotypic leukemia LEXMATCH +MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NCIT:C27367 Adult Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic large cell lymphoma LEXMATCH +MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NCIT:C27367 Adult Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic large cell lymphoma LEXMATCH +MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NCIT:C5636 Childhood Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic large cell lymphoma LEXMATCH +MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NCIT:C5636 Childhood Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic large cell lymphoma LEXMATCH +MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch NCIT:C4205 Malignant Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant granulosa cell neoplasm LEXMATCH +MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch NCIT:C7288 Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult ovarian granulosa cell tumor LEXMATCH MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch NCIT:C7288 Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult ovarian granulosa cell tumor LEXMATCH +MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch NCIT:C68634 Childhood Atypical Teratoid/Rhabdoid Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical teratoid/rhabdoid tumor LEXMATCH +MONDO:0020580 germinomatous germ cell tumor skos:exactMatch NCIT:C123838 Childhood Germinomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germinomatous germ cell tumor LEXMATCH +MONDO:0020580 germinomatous germ cell tumor skos:exactMatch NCIT:C123838 Childhood Germinomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym germinomatous germ cell tumor LEXMATCH MONDO:0020595 obsolete disorder of retroperitoneum skos:exactMatch NCIT:C27667 Retroperitoneal Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020634 grade III meningioma skos:exactMatch NCIT:C71303 Childhood Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade iii meningioma LEXMATCH +MONDO:0020634 grade III meningioma skos:exactMatch NCIT:C71303 Childhood Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii meningioma LEXMATCH +MONDO:0020634 grade III meningioma skos:exactMatch NCIT:C71305 Adult Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade iii meningioma LEXMATCH +MONDO:0020634 grade III meningioma skos:exactMatch NCIT:C71305 Adult Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii meningioma LEXMATCH +MONDO:0020635 anaplastic meningioma skos:exactMatch NCIT:C8275 Adult Anaplastic (Malignant) Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic (malignant) meningioma LEXMATCH +MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C204843 Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous superficial spreading melanoma LEXMATCH +MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C204843 Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid melanoma LEXMATCH +MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C204843 Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial spreading cutaneous (skin) melanoma LEXMATCH +MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C204843 Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial spreading melanoma LEXMATCH +MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C204843 Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial spreading melanoma of the skin LEXMATCH +MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C204843 Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym superficial spreading melanoma LEXMATCH +MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets LEXMATCH +MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets LEXMATCH +MONDO:0020761 Bowen disease of the skin skos:exactMatch NCIT:C43598 Perianal Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bowen disorder LEXMATCH MONDO:0020842 obsolete medullary carcinoma skos:exactMatch NCIT:C8998 Medullary Carcinoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0021059 obsolete head or neck disorder/disorder skos:exactMatch NCIT:C27571 Head and Neck Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021066 urinary system neoplasm skos:exactMatch NCIT:C192666 Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urinary tract neoplasm LEXMATCH MONDO:0021066 urinary system neoplasm skos:exactMatch NCIT:C192666 Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urinary tract neoplasm LEXMATCH +MONDO:0021137 not rare skos:exactMatch NCIT:C43461 Common semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common LEXMATCH +MONDO:0021137 not rare skos:exactMatch NCIT:C43461 Common semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common LEXMATCH +MONDO:0021141 acquired skos:exactMatch NCIT:C85869 Acquired semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired LEXMATCH MONDO:0021200 obsolete rare disease skos:exactMatch NCIT:C4873 Rare Disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021211 brain neoplasm skos:exactMatch NCIT:C7703 Childhood Brain Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain neoplasm LEXMATCH +MONDO:0021211 brain neoplasm skos:exactMatch NCIT:C7710 Adult Brain Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain neoplasm LEXMATCH +MONDO:0021234 spinal cord neoplasm skos:exactMatch NCIT:C71024 Adult Spinal Cord Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal cord tumor LEXMATCH +MONDO:0021284 carcinoma in situ of ureter skos:exactMatch NCIT:C140363 Stage 0is Ureter Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is ureter cancer LEXMATCH +MONDO:0021284 carcinoma in situ of ureter skos:exactMatch NCIT:C6149 Stage 0 Ureter Cancer AJCC v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 ureter carcinoma LEXMATCH +MONDO:0021285 carcinoma in situ of urethra skos:exactMatch NCIT:C140459 Stage 0is Urethral Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is urethral cancer LEXMATCH +MONDO:0021285 carcinoma in situ of urethra skos:exactMatch NCIT:C6195 Stage 0 Urethral Cancer AJCC v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 urethra carcinoma LEXMATCH +MONDO:0021290 carcinoma in situ of appendix skos:exactMatch NCIT:C134118 Stage 0 Appendix Carcinoma AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 appendix cancer LEXMATCH +MONDO:0021296 carcinoma in situ of renal pelvis skos:exactMatch NCIT:C140362 Stage 0is Renal Pelvis Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is renal pelvis cancer LEXMATCH +MONDO:0021656 nongerminomatous germ cell tumor skos:exactMatch NCIT:C123841 Childhood Nongerminomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nongerminomatous germ cell tumor LEXMATCH +MONDO:0021656 nongerminomatous germ cell tumor skos:exactMatch NCIT:C123841 Childhood Nongerminomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nongerminomatous germ cell tumor LEXMATCH +MONDO:0021659 combined carcinoid and adenocarcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoid tumor LEXMATCH +MONDO:0021659 combined carcinoid and adenocarcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym composite carcinoid LEXMATCH +MONDO:0021659 combined carcinoid and adenocarcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym composite carcinoid tumor LEXMATCH +MONDO:0022096 pyogenic granuloma skos:exactMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyogenic granuloma LEXMATCH +MONDO:0023161 viral myocarditis skos:exactMatch NCIT:C91441 Viral Myocarditis Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viral myocarditis LEXMATCH +MONDO:0023161 viral myocarditis skos:exactMatch NCIT:C91441 Viral Myocarditis Pathway semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym viral myocarditis LEXMATCH +MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch NCIT:C7288 Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian granulosa cell tumor LEXMATCH +MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch NCIT:C7288 Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian granulosa cell tumor LEXMATCH +MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C3465 Grade 1 Follicular Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade type 1 LEXMATCH +MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C8968 Grade 2 Follicular Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade type 2 LEXMATCH +MONDO:0024493 tumor grade 3, general grading system skos:exactMatch NCIT:C3460 Grade 3 Follicular Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade type 3 LEXMATCH +MONDO:0024493 tumor grade 3, general grading system skos:exactMatch NCIT:C42047 Poorly Differentiated Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly differentiated LEXMATCH +MONDO:0024494 tumor grade 4, general grading system skos:exactMatch NCIT:C42046 Undifferentiated Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated LEXMATCH +MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch NCIT:C7709 Digestive System Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoid tumor of digestive system LEXMATCH +MONDO:0024890 pineal parenchymal cell neoplasm skos:exactMatch NCIT:C115196 Childhood Pineal Parenchymal Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineal parenchymal cell neoplasm LEXMATCH +MONDO:0024890 pineal parenchymal cell neoplasm skos:exactMatch NCIT:C115196 Childhood Pineal Parenchymal Cell Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineal parenchymal cell neoplasm LEXMATCH +MONDO:0027772 lung colloid adenocarcinoma skos:exactMatch NCIT:C201978 Pulmonary Mucinous Cystic Tumor of Borderline Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lung mucinous cystic tumor of borderline malignancy LEXMATCH +MONDO:0034212 methotrexate toxicity skos:exactMatch NCIT:C81194 Methotrexate Toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity LEXMATCH +MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch NCIT:C82192 Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mpal with t(9;22)(q34.1;q11.2); bcr-abl1 LEXMATCH +MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch NCIT:C80345 Hypodiploid B Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodiploid all LEXMATCH MONDO:0036491 obsolete rare childhood malignant neoplasm skos:exactMatch NCIT:C114451 Rare Childhood Malignant Neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0043881 obsolete acute eosinophilic leukemia skos:exactMatch NCIT:C26813 Acute Eosinophilic Leukemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0042487 uterine cervix carcinoma in situ skos:exactMatch NCIT:C89550 Stage 0 Cervical Cancer AJCC v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 cervical cancer LEXMATCH +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch NCIT:C8060 Childhood Nodular Lymphocyte Predominant B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular lymphocyte predominant hodgkin lymphoma LEXMATCH +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch NCIT:C8060 Childhood Nodular Lymphocyte Predominant B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular lymphocyte predominant hodgkin lymphoma LEXMATCH +MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch NCIT:C201136 Solid Pseudopapillary Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frantz tumor LEXMATCH +MONDO:0044881 hematopoietic and lymphoid cell neoplasm skos:exactMatch NCIT:C9431 Childhood Hematopoietic and Lymphoid Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hematopoietic neoplasm LEXMATCH +MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch NCIT:C7226 Adult T Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t lymphoblastic lymphoma LEXMATCH +MONDO:0045019 lactation disease skos:exactMatch NCIT:C79606 Lactation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactation disorder LEXMATCH +MONDO:0045056 grade II meningioma skos:exactMatch NCIT:C71301 Childhood Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade ii meningioma LEXMATCH +MONDO:0045056 grade II meningioma skos:exactMatch NCIT:C71301 Childhood Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade ii meningioma LEXMATCH +MONDO:0045056 grade II meningioma skos:exactMatch NCIT:C71304 Adult Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade ii meningioma LEXMATCH +MONDO:0045056 grade II meningioma skos:exactMatch NCIT:C71304 Adult Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade ii meningioma LEXMATCH +MONDO:0056798 disorder of appendix skos:exactMatch NCIT:C173799 Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym appendix disorder LEXMATCH MONDO:0056798 disorder of appendix skos:exactMatch NCIT:C173799 Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label appendix disorder LEXMATCH +MONDO:0100063 Pericytoma with t(7;12) skos:exactMatch NCIT:C202896 GLI1-Altered Soft Tissue Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pericytoma with t(7;12) LEXMATCH +MONDO:0600025 hydrosalpinx skos:exactMatch NCIT:C78293 Fallopian Tube Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fallopian tube obstruction LEXMATCH +MONDO:0600025 hydrosalpinx skos:exactMatch NCIT:C78293 Fallopian Tube Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fallopian tube obstruction LEXMATCH MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C1535926 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningeal carcinomatosis LEXMATCH MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis LEXMATCH +MONDO:0800385 iron poisoning skos:exactMatch NCIT:C78393 Iron Overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iron overload LEXMATCH +MONDO:0800385 iron poisoning skos:exactMatch NCIT:C78393 Iron Overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label iron overload LEXMATCH +MONDO:0850101 spitzoid melanoma skos:exactMatch NCIT:C165497 Spitz Melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spitzoid melanoma LEXMATCH +MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch NCIT:C48613 Melanoma Arising in Congenital Melanocytic Nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma in congenital melanocytic nevus LEXMATCH MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch NCIT:C139012 Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma LEXMATCH MONDO:0850154 tongue carcinoma skos:exactMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue carcinoma LEXMATCH +MONDO:0850162 B-lymphoblastic leukemia/lymphoma with IAMP21 skos:exactMatch NCIT:C130039 B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym b-lymphoblastic leukemia/lymphoma with iamp21 LEXMATCH MONDO:0850267 childhood acute megakaryoblastic leukemia skos:exactMatch NCIT:C7972 Childhood Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood acute megakaryoblastic leukemia LEXMATCH MONDO:0850269 core binding factor acute myeloid leukemia skos:exactMatch NCIT:C122688 Core Binding Factor Acute Myeloid Leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label core binding factor acute myeloid leukemia LEXMATCH MONDO:0850271 myeloid leukemia associated with down syndrome skos:exactMatch NCIT:C43223 Myeloid Leukemia Associated with Down Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid leukemia associated with down syndrome LEXMATCH @@ -74,6 +639,7 @@ MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch NCIT:C62193 MONDO:0850302 intracranial meningioma skos:exactMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intracranial meningioma LEXMATCH MONDO:0850303 supratentorial meningioma skos:exactMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supratentorial meningioma LEXMATCH MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma skos:exactMatch NCIT:C129327 Anaplastic Pleomorphic Xanthoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic pleomorphic xanthoastrocytoma LEXMATCH +MONDO:0850338 spinal ependymoma, MYCN-amplified skos:exactMatch NCIT:C186494 Spinal Cord Ependymoma, MYCN Amplified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinal ependymoma, mycn-amplified LEXMATCH MONDO:0850339 posterior fossa ependymoma skos:exactMatch NCIT:C186443 Posterior Fossa Ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior fossa ependymoma LEXMATCH MONDO:0850340 supratentorial ependymoma skos:exactMatch NCIT:C186343 Supratentorial Ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supratentorial ependymoma LEXMATCH MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch NCIT:C45542 Lung Pleomorphic Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung pleomorphic carcinoma LEXMATCH @@ -90,21 +656,32 @@ MONDO:0850471 N1 diffuse large B-cell lymphoma skos:exactMatch NCIT:C148396 N1 D MONDO:0850472 ST2 diffuse large B-cell lymphoma skos:exactMatch NCIT:C187445 ST2 Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label st2 diffuse large b-cell lymphoma LEXMATCH MONDO:0850473 A53 diffuse large B-cell lymphoma skos:exactMatch NCIT:C187447 A53 Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label a53 diffuse large b-cell lymphoma LEXMATCH MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch NCIT:C4768 Malignant Olfactory Nerve Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant olfactory nerve neoplasm LEXMATCH +MONDO:0858916 pituitary blastoma skos:exactMatch NCIT:C155304 Pituitary Gland Blastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary blastoma LEXMATCH MONDO:0858917 cauda equina neuroendocrine tumor skos:exactMatch NCIT:C5324 Cauda Equina Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cauda equina neuroendocrine tumor LEXMATCH +MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype skos:exactMatch NCIT:C185467 Diffuse Pediatric-Type High Grade Glioma, H3-Wildtype and IDH-Wildtype semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype LEXMATCH MONDO:0858940 infant-type hemispheric glioma skos:exactMatch NCIT:C185471 Infant-Type Hemispheric Glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infant-type hemispheric glioma LEXMATCH MONDO:0858944 myxoid glioneuronal tumor skos:exactMatch NCIT:C179229 Myxoid Glioneuronal Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxoid glioneuronal tumor LEXMATCH MONDO:0858956 diffuse leptomeningeal glioneuronal tumor skos:exactMatch NCIT:C129424 Diffuse Leptomeningeal Glioneuronal Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse leptomeningeal glioneuronal tumor LEXMATCH +MONDO:0858957 multinodular and vacuolating neuronal tumor skos:exactMatch NCIT:C129427 Multinodular and Vacuolated Neuronal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multinodular and vacuolating neuronal tumor LEXMATCH +MONDO:0858958 high-grade astrocytoma with piloid features skos:exactMatch NCIT:C185879 High Grade Astrocytoma with Piloid Features semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym high-grade astrocytoma with piloid features LEXMATCH MONDO:0858959 polymorphous low grade neuroepithelial tumor of the young skos:exactMatch NCIT:C180378 Polymorphous Low Grade Neuroepithelial Tumor of the Young semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymorphous low grade neuroepithelial tumor of the young LEXMATCH MONDO:0858960 spindle cell oncocytoma skos:exactMatch NCIT:C94537 Spindle Cell Oncocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spindle cell oncocytoma LEXMATCH MONDO:0858966 central nervous system tumor with bcor internal tandem duplication skos:exactMatch NCIT:C186556 Central Nervous System Tumor with BCOR Internal Tandem Duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system tumor with bcor internal tandem duplication LEXMATCH MONDO:0858967 primary intracranial sarcoma, DICER1-mutant skos:exactMatch NCIT:C186610 Primary Intracranial Sarcoma, DICER1-Mutant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intracranial sarcoma, dicer1-mutant LEXMATCH +MONDO:0858997 cancer of unknown primary site skos:exactMatch NCIT:C8566 Metastatic Malignant Neoplasm of Unknown Primary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cancer of unknown primary site LEXMATCH +MONDO:0859591 childhood low-grade glioma skos:exactMatch NCIT:C202299 Childhood Low Grade Glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood low-grade glioma LEXMATCH +MONDO:0859598 erythroleukemia skos:exactMatch NCIT:C68694 Adult Erythroleukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia LEXMATCH MONDO:0859598 erythroleukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythroleukemia LEXMATCH MONDO:0859747 grade I lymphomatoid granulomatosis skos:exactMatch NCIT:C7931 Grade I Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade i lymphomatoid granulomatosis LEXMATCH MONDO:0859748 grade II lymphomatoid granulomatosis skos:exactMatch NCIT:C7932 Grade II Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade ii lymphomatoid granulomatosis LEXMATCH +MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch NCIT:C115150 Adult Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii lymphomatoid granulomatosis LEXMATCH +MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch NCIT:C115204 Childhood Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii lymphomatoid granulomatosis LEXMATCH MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch NCIT:C7933 Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade iii lymphomatoid granulomatosis LEXMATCH MONDO:0956962 benign teratoma skos:exactMatch NCIT:C67107 Benign Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign teratoma LEXMATCH MONDO:0956981 astrocytoma, IDH-mutant, grade 4 skos:exactMatch NCIT:C167335 Astrocytoma, IDH-Mutant, Grade 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade type 4 LEXMATCH +MONDO:0956985 lipofibromatosis-like neural tumor skos:exactMatch NCIT:C178426 NTRK-Rearranged Spindle Cell Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipofibromatosis-like neural tumor LEXMATCH MONDO:0956989 CIC-rearranged sarcoma skos:exactMatch NCIT:C120224 CIC-Rearranged Sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cic-rearranged sarcoma LEXMATCH +MONDO:0956992 posterior fossa group A ependymoma skos:exactMatch NCIT:C186450 Posterior Fossa Ependymoma, Group A (PFA) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym posterior fossa group a ependymoma LEXMATCH MONDO:0956994 astrocytoma, IDH-mutant, grade 2 skos:exactMatch NCIT:C129271 Astrocytoma, IDH-Mutant, Grade 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade type 2 LEXMATCH MONDO:0956995 astrocytoma, IDH-mutant, grade 3 skos:exactMatch NCIT:C129290 Astrocytoma, IDH-Mutant, Grade 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade type 3 LEXMATCH MONDO:0957196 diffuse midline glioma, H3 K27M-mutant skos:exactMatch NCIT:C129309 Diffuse Midline Glioma, H3 K27M-Mutant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse midline glioma, h3 k27m-mutant LEXMATCH @@ -125,7 +702,12 @@ MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion skos:exactMatch NC MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion skos:exactMatch NCIT:C178462 Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion LEXMATCH MONDO:0958302 TFEB-rearranged renal cell carcinoma skos:exactMatch NCIT:C37210 TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma LEXMATCH MONDO:0958303 childhood renal cell carcinoma with MiT translocations skos:exactMatch NCIT:C189242 Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations LEXMATCH +MONDO:0971033 intrathyroid thymic carcinoma skos:exactMatch NCIT:C46106 Intrathyroid Thymic Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrathyroid thymic carcinoma LEXMATCH +MONDO:0971034 thyroid gland cribriform morular carcinoma skos:exactMatch NCIT:C126408 Thyroid Gland Cribriform Morular Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland cribriform morular carcinoma LEXMATCH +MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma skos:exactMatch NCIT:C46104 Thyroid Gland Mixed Medullary and Follicular Cell-Derived Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland mixed medullary and follicular cell-derived carcinoma LEXMATCH +MONDO:0971036 thyroid gland mucinous carcinoma skos:exactMatch NCIT:C156267 Thyroid Gland Mucinous Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland mucinous carcinoma LEXMATCH MONDO:0971056 ocular surface squamous neoplasia skos:exactMatch NCIT:C176043 Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia LEXMATCH +MONDO:0971115 benign vascular tumor skos:exactMatch NCIT:C7389 Benign Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign vascular tumor LEXMATCH MONDO:0971143 pleural mesothelioma in situ skos:exactMatch NCIT:C183134 Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ LEXMATCH MONDO:0975754 pseudomyogenic hemangioendothelioma skos:exactMatch NCIT:C121668 Pseudomyogenic Hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyogenic hemangioendothelioma LEXMATCH MONDO:1040026 metastatic malignant neoplasm in the brain skos:exactMatch NCIT:C3813 Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 7e092dee..079a28ca 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -36,6 +36,7 @@ MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 sem MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0011378 obsolete CFM1 skos:exactMatch OMIM:603855 cystic fibrosis, modifier of, 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -63,7 +64,10 @@ MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMI MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020608 obsolete blood group--ahonen skos:exactMatch OMIM:110350 blood group--ahonen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020610 obsolete blood group, diego system skos:exactMatch OMIM:110500 blood group, diego system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020611 obsolete blood group--kell system skos:exactMatch OMIM:110900 blood group--kell system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -72,7 +76,12 @@ MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, ss semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020623 obsolete blood group--ul system skos:exactMatch OMIM:112000 blood group--ul system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020624 obsolete blood group--waldner type skos:exactMatch OMIM:112010 blood group--waldner type semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -80,10 +89,13 @@ MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -100,13 +112,14 @@ MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null s MONDO:0044259 obsolete skin/hair/eye pigmentation, variation in, 2 skos:exactMatch OMIM:266300 skin/hair/eye pigmentation, variation in, 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044271 obsolete bone mineral density quantitative trait locus 1 skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv index 51a42c98..73c3d0c6 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv @@ -1,5 +1,7 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment -MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0002012 methylmalonic acidemia skos:exactMatch OMIMPS:251000 Methylmalonic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria LEXMATCH +MONDO:0002012 methylmalonic acidemia skos:exactMatch OMIMPS:251000 Methylmalonic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methylmalonic aciduria LEXMATCH +MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 8007fe9f..d97ad84f 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -346,7 +346,6 @@ MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -415,7 +414,6 @@ MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Or MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv index 808c0956..2361b873 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv @@ -1,3 +1,5 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0009672 spinal muscular atrophy, type III skos:narrowMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym childhood spinal muscular atrophy LEXMATCH MONDO:0009672 spinal muscular atrophy, type III skos:narrowMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label childhood spinal muscular atrophy LEXMATCH +MONDO:0800044 congenital disorder of deglycosylation 1 skos:narrowMatch DOID:0060991 congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym congenital disorder of deglycosylation LEXMATCH +MONDO:0800044 congenital disorder of deglycosylation 1 skos:narrowMatch DOID:0060991 congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label congenital disorder of deglycosylation LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv index 656e51d9..a16a768d 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv @@ -460,4 +460,5 @@ MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose i MONDO:0100428 progressive bulbar palsy of childhood skos:narrowMatch ICD10CM:G12.1 Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym progressive bulbar palsy of childhood LEXMATCH MONDO:0100428 progressive bulbar palsy of childhood skos:narrowMatch ICD10CM:G12.1 Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym progressive bulbar palsy of childhood LEXMATCH MONDO:0850301 pemphigoid skos:narrowMatch ICD10CM:L12.8 Other pemphigoid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigoid LEXMATCH +MONDO:1030009 persistent atrial fibrillation skos:narrowMatch ICD10CM:I48.19 Other persistent atrial fibrillation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym persistent atrial fibrillation LEXMATCH MONDO:1050000 sycosis barbae skos:narrowMatch ICD10CM:L73.8 Other specified follicular disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sycosis barbae LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 2b3a3287..4a5e6bc7 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -2,18 +2,31 @@ subject_id subject_label object_id predicate_id object_label mapping_justificati ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papilledema MONDO:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema +MONDO:0008269 polydactyly of a biphalangeal thumb DOID:0060987 MONDO:equivalentTo preaxial polydactyly I semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174400 +MONDO:0008270 polydactyly of a triphalangeal thumb DOID:0060986 MONDO:equivalentTo preaxial polydactyly II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174500 +MONDO:0008272 polysyndactyly 4 DOID:0060985 MONDO:equivalentTo preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174700 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium DOID:0070564 MONDO:equivalentTo dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dialysis dysequilibrium syndrome MONDO:0009669 spinal muscular atrophy, type 1 DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive DOID:0060854 MONDO:equivalentTo autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350 +MONDO:0016932 partial duplication of chromosome 11 DOID:0070614 MONDO:equivalentTo chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome type 11 +MONDO:0016932 partial duplication of chromosome 11 DOID:0070614 MONDO:equivalentTo chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial duplication of chromosome type 11 MONDO:0020796 Silver-Russell syndrome 1 DOID:14681 MONDO:equivalentTo Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 -MONDO:0024773 spermatogenic failure, X-linked, 4 DOID:0070595 MONDO:equivalentTo X-linked spermatogenic failure 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301077 +MONDO:0030549 hearing loss, autosomal dominant 81 DOID:0070608 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619500 +MONDO:0030719 hearing loss, autosomal dominant 82 DOID:0070603 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619804 +MONDO:0030723 hearing loss, autosomal dominant 83 DOID:0070609 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619808 +MONDO:0030724 hearing loss, autosomal dominant 84 DOID:0070604 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619810 +MONDO:0030998 hearing loss, autosomal dominant 80 DOID:0070602 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619274 +MONDO:0031057 dyskeratosis congenita, digenic DOID:0060984 MONDO:equivalentTo digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620040 +MONDO:0032802 hearing loss, autosomal dominant 37 DOID:0070601 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618533 MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic fibrosing alveolitis MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic pulmonary dysplasia MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis, familial MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 DOID:14671 MONDO:equivalentTo multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 -MONDO:0859477 spermatogenic failure, X-linked, 5 DOID:0070596 MONDO:equivalentTo X-linked spermatogenic failure 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301099 -MONDO:0859478 spermatogenic failure, X-linked, 6 DOID:0070597 MONDO:equivalentTo X-linked spermatogenic failure 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301101 -MONDO:0957202 spermatogenic failure, X-linked, 7 DOID:0070598 MONDO:equivalentTo X-linked spermatogenic failure 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301106 -MONDO:0970943 spermatogenic failure, x-linked, 8 DOID:0070599 MONDO:equivalentTo X-linked spermatogenic failure 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301119 +MONDO:0859366 hearing loss, autosomal dominant 85 DOID:0070605 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620227 +MONDO:0859524 hearing loss, autosomal dominant 86 DOID:0070610 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620280 +MONDO:0859525 hearing loss, autosomal dominant 87 DOID:0070606 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620281 +MONDO:0859527 hearing loss, autosomal dominant 88 DOID:0070611 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620283 +MONDO:0859528 hearing loss, autosomal dominant 89 DOID:0070612 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620284 +MONDO:0958232 hearing loss, autosomal dominant 90 DOID:0070607 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620722 diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index a2894dec..d1d4b7bf 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -3,33 +3,13 @@ ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0005641 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder MONDO:0005676 borna disease DOID:5154 MONDO:equivalentTo borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder MONDO:0007744 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0030716 spermatogenic failure 66 DOID:0070565 MONDO:equivalentTo spermatogenic failure 66 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619799 -MONDO:0030718 spermatogenic failure 67 DOID:0070566 MONDO:equivalentTo spermatogenic failure 67 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619803 -MONDO:0030721 spermatogenic failure 68 DOID:0070567 MONDO:equivalentTo spermatogenic failure 68 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619805 -MONDO:0030732 spermatogenic failure 69 DOID:0070568 MONDO:equivalentTo spermatogenic failure 69 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619826 -MONDO:0030733 spermatogenic failure 70 DOID:0070569 MONDO:equivalentTo spermatogenic failure 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619828 -MONDO:0030787 spermatogenic failure 71 DOID:0070570 MONDO:equivalentTo spermatogenic failure 71 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619831 -MONDO:0030809 spermatogenic failure 72 DOID:0070571 MONDO:equivalentTo spermatogenic failure 72 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619867 -MONDO:0030818 spermatogenic failure 73 DOID:0070572 MONDO:equivalentTo spermatogenic failure 73 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619878 -MONDO:0030972 spermatogenic failure 74 DOID:0070573 MONDO:equivalentTo spermatogenic failure 74 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619937 -MONDO:0030984 spermatogenic failure 75 DOID:0070574 MONDO:equivalentTo spermatogenic failure 75 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619949 -MONDO:0031077 spermatogenic failure 76 DOID:0070575 MONDO:equivalentTo spermatogenic failure 76 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620084 -MONDO:0031083 spermatogenic failure 77 DOID:0070576 MONDO:equivalentTo spermatogenic failure 77 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620103 -MONDO:0859338 spermatogenic failure 78 DOID:0070577 MONDO:equivalentTo spermatogenic failure 78 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620170 -MONDO:0859352 spermatogenic failure 79 DOID:0070578 MONDO:equivalentTo spermatogenic failure 79 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620196 -MONDO:0859364 spermatogenic failure 80 DOID:0070579 MONDO:equivalentTo spermatogenic failure 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620222 -MONDO:0859522 spermatogenic failure 81 DOID:0070580 MONDO:equivalentTo spermatogenic failure 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620277 -MONDO:0957249 spermatogenic failure 82 DOID:0070581 MONDO:equivalentTo spermatogenic failure 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620353 -MONDO:0957250 spermatogenic failure 83 DOID:0070582 MONDO:equivalentTo spermatogenic failure 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620354 -MONDO:0957301 spermatogenic failure 84 DOID:0070583 MONDO:equivalentTo spermatogenic failure 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620409 -MONDO:0957584 spermatogenic failure 85 DOID:0070584 MONDO:equivalentTo spermatogenic failure 85 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620490 -MONDO:0957593 spermatogenic failure 86 DOID:0070585 MONDO:equivalentTo spermatogenic failure 86 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620499 -MONDO:0957594 spermatogenic failure 87 DOID:0070586 MONDO:equivalentTo spermatogenic failure 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620500 -MONDO:0957821 spermatogenic failure 88 DOID:0070587 MONDO:equivalentTo spermatogenic failure 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620547 -MONDO:0958206 spermatogenic failure 89 DOID:0070588 MONDO:equivalentTo spermatogenic failure 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620705 -MONDO:0958242 spermatogenic failure 90 DOID:0070589 MONDO:equivalentTo spermatogenic failure 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620744 -MONDO:0970952 spermatogenic failure 91 DOID:0070590 MONDO:equivalentTo spermatogenic failure 91 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620838 -MONDO:0970999 spermatogenic failure 92 DOID:0070591 MONDO:equivalentTo spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848 -MONDO:0971000 spermatogenic failure 93 DOID:0070592 MONDO:equivalentTo spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849 -MONDO:0971002 spermatogenic failure 94 DOID:0070593 MONDO:equivalentTo spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850 -MONDO:0975747 spermatogenic failure 95 DOID:0070594 MONDO:equivalentTo spermatogenic failure 95 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620917 +MONDO:0009297 familial renal glucosuria DOID:0070613 MONDO:equivalentTo familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d006030 +MONDO:0009297 familial renal glucosuria DOID:0070613 MONDO:equivalentTo familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:233100 +MONDO:0013815 bent bone dysplasia syndrome 1 DOID:0060992 MONDO:equivalentTo bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614592 +MONDO:0014406 pancreatic agenesis 2 DOID:0060988 MONDO:equivalentTo pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615935 +MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 DOID:0060994 MONDO:equivalentTo encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617086 +MONDO:0030770 congenital disorder of deglycosylation 2 DOID:0060990 MONDO:equivalentTo congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619775 +MONDO:0031376 congenital disorder of deglycosylation DOID:0060991 MONDO:equivalentTo congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation +MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 DOID:0060989 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617877 +MONDO:0859224 intellectual disability and myopathy syndrome DOID:0070600 MONDO:equivalentTo intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619719 +MONDO:0859573 bent bone dysplasia syndrome 2 DOID:0060993 MONDO:equivalentTo bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620076 diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv index 2cd32cea..77c1fc49 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv @@ -1973,3 +1973,4 @@ MONDO:0859006 proximal femoral focal deficiency ICD10CM:Q72.4 MONDO:equivalentTo MONDO:0859598 erythroleukemia ICD10CM:C94.0 MONDO:equivalentTo Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia MONDO:0956962 benign teratoma ICD10CM:D28 MONDO:equivalentTo Benign neoplasm of other and unspecified female genital organs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign teratoma MONDO:0971058 verruga peruana ICD10CM:A44.1 MONDO:equivalentTo Cutaneous and mucocutaneous bartonellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verruga peruana +MONDO:1030010 precerebral artery stenosis ICD10CM:I65 MONDO:equivalentTo Occlusion and stenosis of precerebral arteries, not resulting in cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym narrowing of precerebral artery diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv index 8338ed32..f6d35987 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv @@ -402,3 +402,4 @@ MONDO:0850301 pemphigoid ICD10CM:L12 MONDO:equivalentTo Pemphigoid semapv:Lexica MONDO:0859565 atrioventricular septal defect ICD10CM:Q21.2 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0956980 vascular parkinsonism ICD10CM:G21.4 MONDO:equivalentTo Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism MONDO:0958083 conjoined twins ICD10CM:Q89.4 MONDO:equivalentTo Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins +MONDO:1030007 hypertensive urgency ICD10CM:I16.0 MONDO:equivalentTo Hypertensive urgency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive urgency diff --git a/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv index 809011cf..195c4aa9 100644 --- a/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv @@ -742,3 +742,5 @@ MONDO:0850301 pemphigoid ICD10WHO:L12 MONDO:equivalentTo Pemphigoid semapv:Lexic MONDO:0859565 atrioventricular septal defect ICD10WHO:Q21.2 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect MONDO:0956980 vascular parkinsonism ICD10WHO:G21.4 MONDO:equivalentTo Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism MONDO:0958083 conjoined twins ICD10WHO:Q89.4 MONDO:equivalentTo Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins +MONDO:1030009 persistent atrial fibrillation ICD10WHO:I48.1 MONDO:equivalentTo Persistent atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent atrial fibrillation +MONDO:1030011 paroxysmal atrial fibrillation ICD10WHO:I48.0 MONDO:equivalentTo Paroxysmal atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal atrial fibrillation diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv index 80306660..622f939f 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv @@ -379,10 +379,7 @@ MONDO:0001292 autonomic nervous system disorder icd11.foundation:1397803237 MOND MONDO:0001292 autonomic nervous system disorder icd11.foundation:1397803237 MONDO:equivalentTo Disorders of autonomic nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of peripheral autonomic nervous system MONDO:0001298 congenital mitral valve insufficiency icd11.foundation:403917903 MONDO:equivalentTo Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital insufficiency of mitral valve MONDO:0001298 congenital mitral valve insufficiency icd11.foundation:403917903 MONDO:equivalentTo Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital mitral insufficiency -MONDO:0001298 congenital mitral valve insufficiency icd11.foundation:403917903 MONDO:equivalentTo Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital mitral regurgitation -MONDO:0001298 congenital mitral valve insufficiency icd11.foundation:403917903 MONDO:equivalentTo Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital mitral regurgitation MONDO:0001298 congenital mitral valve insufficiency icd11.foundation:403917903 MONDO:equivalentTo Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital mitral valve insufficiency -MONDO:0001298 congenital mitral valve insufficiency icd11.foundation:637470326 MONDO:equivalentTo Mitral valve insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitral valve incompetence MONDO:0001299 diabetic autonomic neuropathy icd11.foundation:1129679469 MONDO:equivalentTo Autonomic neuropathy due to diabetes mellitus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diabetic autonomic neuropathy MONDO:0001301 rumination disorder icd11.foundation:653249814 MONDO:equivalentTo Gastric contents regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rumination MONDO:0001303 abnormal pupillary function icd11.foundation:538839606 MONDO:equivalentTo Anomalies of pupillary function semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abnormal pupillary function @@ -5801,6 +5798,8 @@ MONDO:0700219 neoplastic meningitis icd11.foundation:1408272267 MONDO:equivalent MONDO:0700226 food allergy icd11.foundation:1028477872 MONDO:equivalentTo Food hypersensitivity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym food hypersensitivity MONDO:0700226 food allergy icd11.foundation:1028477872 MONDO:equivalentTo Food hypersensitivity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label food hypersensitivity MONDO:0700226 food allergy icd11.foundation:1028477872 MONDO:equivalentTo Food hypersensitivity semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym food allergy +MONDO:0700282 POLR3-related leukodystrophy icd11.foundation:1151136209 MONDO:equivalentTo 4H leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4h leukodystrophy +MONDO:0700282 POLR3-related leukodystrophy icd11.foundation:1151136209 MONDO:equivalentTo 4H leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 4h leukodystrophy MONDO:0800029 interstitial lung disease 2 icd11.foundation:1074069640 MONDO:equivalentTo Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis MONDO:0800029 interstitial lung disease 2 icd11.foundation:1074069640 MONDO:equivalentTo Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary fibrosis MONDO:0800042 restrictive dermopathy 1 icd11.foundation:713433700 MONDO:equivalentTo Lethal restrictive dermopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperkeratosis-contracture syndrome diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv index de40d26c..806c0b26 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv @@ -9,4 +9,8 @@ MONDO:0971128 multiple evanescent white dot syndrome icd11.foundation:1817745681 MONDO:0975755 eccrine angiomatous hamartoma icd11.foundation:541084000 MONDO:equivalentTo Eccrine angiomatous hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eccrine angiomatous hamartoma MONDO:0975758 microvenular haemangioma icd11.foundation:1766508726 MONDO:equivalentTo Microvenular haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvenular haemangioma MONDO:0975759 acquired elastotic haemangioma icd11.foundation:1009548311 MONDO:equivalentTo Acquired elastotic haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired elastotic haemangioma +MONDO:1010089 hypomyopathic dermatomyositis icd11.foundation:619606071 MONDO:equivalentTo Hypomyopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyopathic dermatomyositis +MONDO:1030007 hypertensive urgency icd11.foundation:956687992 MONDO:equivalentTo Hypertensive urgency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive urgency +MONDO:1030008 mitral valve insufficiency icd11.foundation:637470326 MONDO:equivalentTo Mitral valve insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitral valve insufficiency +MONDO:1030009 persistent atrial fibrillation icd11.foundation:519924384 MONDO:equivalentTo Persistent atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent atrial fibrillation MONDO:1050000 sycosis barbae icd11.foundation:1245506993 MONDO:equivalentTo Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae diff --git a/src/ontology/lexmatch/unmapped_ncit_lex.tsv b/src/ontology/lexmatch/unmapped_ncit_lex.tsv index 58771e64..faea581a 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex.tsv @@ -1,47 +1,614 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0000376 respiratory system cancer NCIT:C4571 MONDO:equivalentTo Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant respiratory system neoplasm MONDO:0000376 respiratory system cancer NCIT:C4571 MONDO:equivalentTo Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant respiratory system neoplasm +MONDO:0000503 lung adenocarcinoma in situ NCIT:C8758 MONDO:equivalentTo Stage 0 Lung Adenocarcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lung adenocarcinoma in situ +MONDO:0000503 lung adenocarcinoma in situ NCIT:C8758 MONDO:equivalentTo Stage 0 Lung Adenocarcinoma AJCC v6 and v7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lung adenocarcinoma in situ +MONDO:0000873 lymphoblastic lymphoma NCIT:C9124 MONDO:equivalentTo Childhood Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphoblastic lymphoma +MONDO:0000873 lymphoblastic lymphoma NCIT:C9124 MONDO:equivalentTo Childhood Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoblastic lymphoma +MONDO:0000873 lymphoblastic lymphoma NCIT:C9361 MONDO:equivalentTo Adult Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphoblastic lymphoma +MONDO:0000873 lymphoblastic lymphoma NCIT:C9361 MONDO:equivalentTo Adult Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoblastic lymphoma +MONDO:0000874 T-cell childhood lymphoblastic lymphoma NCIT:C7226 MONDO:equivalentTo Adult T Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t lymphoblastic lymphoma +MONDO:0000930 nodular malignant melanoma NCIT:C205125 MONDO:equivalentTo Nodular Melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular melanoma MONDO:0000930 nodular malignant melanoma NCIT:C205125 MONDO:equivalentTo Nodular Melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular melanoma +MONDO:0000964 skin lipoma NCIT:C5566 MONDO:equivalentTo Skin Lipomatous Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous lipomatous tumor +MONDO:0000992 heart conduction disease NCIT:C78245 MONDO:equivalentTo Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiac conduction disorder +MONDO:0000992 heart conduction disease NCIT:C78245 MONDO:equivalentTo Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of cardiac conduction +MONDO:0000992 heart conduction disease NCIT:C78245 MONDO:equivalentTo Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder +MONDO:0000992 heart conduction disease NCIT:C78245 MONDO:equivalentTo Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart conduction disorder +MONDO:0001325 penile cancer NCIT:C118820 MONDO:equivalentTo Adult Penile Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile cancer +MONDO:0001325 penile cancer NCIT:C118820 MONDO:equivalentTo Adult Penile Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym penile cancer +MONDO:0001580 lacrimal duct cancer NCIT:C175319 MONDO:equivalentTo Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant lacrimal drainage system neoplasm MONDO:0001580 lacrimal duct cancer NCIT:C175319 MONDO:equivalentTo Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm +MONDO:0001657 brain cancer NCIT:C5115 MONDO:equivalentTo Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant brain neoplasm +MONDO:0001672 bronchus cancer NCIT:C156885 MONDO:equivalentTo Malignant Bronchial Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of bronchus +MONDO:0001744 angle-closure glaucoma NCIT:C34639 MONDO:equivalentTo Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym angle closure glaucoma +MONDO:0001744 angle-closure glaucoma NCIT:C34639 MONDO:equivalentTo Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label angle closure glaucoma +MONDO:0001868 primary angle-closure glaucoma NCIT:C34639 MONDO:equivalentTo Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary angle closure glaucoma +MONDO:0002038 head and neck carcinoma NCIT:C6077 MONDO:equivalentTo Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma of neck +MONDO:0002038 head and neck carcinoma NCIT:C6077 MONDO:equivalentTo Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neck carcinoma MONDO:0002038 head and neck carcinoma NCIT:C6077 MONDO:equivalentTo Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma +MONDO:0002056 breast fibroadenoma NCIT:C4276 MONDO:equivalentTo Juvenile Breast Fibroadenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile fibroadenoma +MONDO:0002056 breast fibroadenoma NCIT:C4276 MONDO:equivalentTo Juvenile Breast Fibroadenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile fibroadenoma of breast +MONDO:0002056 breast fibroadenoma NCIT:C5194 MONDO:equivalentTo Breast Complex Fibroadenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex fibroadenoma of breast +MONDO:0002066 breast adenomyoepithelioma NCIT:C5143 MONDO:equivalentTo Malignant Breast Adenomyoepithelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast adenomyoepithelioma with malignant change +MONDO:0002066 breast adenomyoepithelioma NCIT:C5143 MONDO:equivalentTo Malignant Breast Adenomyoepithelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant adenomyoepithelioma of breast +MONDO:0002073 malignant pineal area germ cell neoplasm NCIT:C4659 MONDO:equivalentTo Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineal germ cell tumor +MONDO:0002073 malignant pineal area germ cell neoplasm NCIT:C4659 MONDO:equivalentTo Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineal region germ cell tumor MONDO:0002073 malignant pineal area germ cell neoplasm NCIT:C4659 MONDO:equivalentTo Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor +MONDO:0002095 vascular cancer NCIT:C7390 MONDO:equivalentTo Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant vascular neoplasm +MONDO:0002095 vascular cancer NCIT:C7390 MONDO:equivalentTo Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant vascular tumor MONDO:0002095 vascular cancer NCIT:C7390 MONDO:equivalentTo Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm +MONDO:0002108 thyroid cancer NCIT:C118827 MONDO:equivalentTo Childhood Thyroid Gland Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid gland cancer +MONDO:0002142 undifferentiated pleomorphic sarcoma NCIT:C114749 MONDO:equivalentTo Childhood Undifferentiated Pleomorphic Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated pleomorphic sarcoma +MONDO:0002142 undifferentiated pleomorphic sarcoma NCIT:C114749 MONDO:equivalentTo Childhood Undifferentiated Pleomorphic Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated pleomorphic sarcoma +MONDO:0002171 giant cell tumor NCIT:C7069 MONDO:equivalentTo Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant cell neoplasm MONDO:0002171 giant cell tumor NCIT:C7069 MONDO:equivalentTo Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell neoplasm +MONDO:0002189 nodular hidradenoma NCIT:C205539 MONDO:equivalentTo Solid Cystic Hidradenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid and cystic hidradenoma +MONDO:0002274 monoclonal paraproteinemia disease NCIT:C35548 MONDO:equivalentTo Monoclonal Gammopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monoclonal paraproteinemia +MONDO:0002286 renal artery disease NCIT:C35338 MONDO:equivalentTo Kidney Vascular Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal vascular disorder +MONDO:0002360 chondroma NCIT:C3007 MONDO:equivalentTo Enchondroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central chondroma +MONDO:0002367 kidney cancer NCIT:C120456 MONDO:equivalentTo Malignant Kidney Neoplasm Except Pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of kidney except pelvis +MONDO:0002386 mixed epithelial stromal tumor of the kidney NCIT:C37264 MONDO:equivalentTo Benign Kidney Mixed Epithelial and Stromal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mest +MONDO:0002407 capillary hemangioma NCIT:C6645 MONDO:equivalentTo Infantile Hemangioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym strawberry nevus +MONDO:0002460 lacrimal system cancer NCIT:C175308 MONDO:equivalentTo Malignant Lacrimal System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant lacrimal apparatus neoplasm +MONDO:0002485 breast neuroendocrine neoplasm NCIT:C175610 MONDO:equivalentTo Breast Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast neuroendocrine tumor MONDO:0002485 breast neuroendocrine neoplasm NCIT:C175610 MONDO:equivalentTo Breast Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast neuroendocrine tumor +MONDO:0002501 brain glioblastoma NCIT:C147901 MONDO:equivalentTo Childhood Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain glioblastoma +MONDO:0002501 brain glioblastoma NCIT:C147901 MONDO:equivalentTo Childhood Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain glioblastoma +MONDO:0002501 brain glioblastoma NCIT:C9375 MONDO:equivalentTo Adult Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain glioblastoma +MONDO:0002501 brain glioblastoma NCIT:C9375 MONDO:equivalentTo Adult Brain Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain glioblastoma +MONDO:0002513 kidney benign neoplasm NCIT:C7514 MONDO:equivalentTo Kidney and Ureter Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal and ureteral tumor +MONDO:0002544 brain oligodendroglioma NCIT:C114773 MONDO:equivalentTo Childhood Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain oligodendroglioma +MONDO:0002544 brain oligodendroglioma NCIT:C114773 MONDO:equivalentTo Childhood Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain oligodendroglioma +MONDO:0002544 brain oligodendroglioma NCIT:C9376 MONDO:equivalentTo Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain oligodendroglioma +MONDO:0002544 brain oligodendroglioma NCIT:C9376 MONDO:equivalentTo Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain oligodendroglioma +MONDO:0002592 invasive malignant thymoma NCIT:C6453 MONDO:equivalentTo Invasive Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infiltrating thymoma +MONDO:0002601 teratoma NCIT:C68626 MONDO:equivalentTo Childhood Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teratoma +MONDO:0002601 teratoma NCIT:C68626 MONDO:equivalentTo Childhood Teratoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teratoma +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C114750 MONDO:equivalentTo Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C114750 MONDO:equivalentTo Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C114782 MONDO:equivalentTo Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C114782 MONDO:equivalentTo Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C115997 MONDO:equivalentTo Localized Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C115997 MONDO:equivalentTo Localized Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C115998 MONDO:equivalentTo Localized Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone NCIT:C115998 MONDO:equivalentTo Localized Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone +MONDO:0002625 Ewing sarcoma of bone NCIT:C6623 MONDO:equivalentTo Localized Bone Ewing Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym localized skeletal ewings sarcoma +MONDO:0002629 bone osteosarcoma NCIT:C4834 MONDO:equivalentTo Primary Bone Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary osteosarcoma of bone +MONDO:0002691 liver cancer NCIT:C190593 MONDO:equivalentTo Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant liver neoplasm MONDO:0002691 liver cancer NCIT:C190593 MONDO:equivalentTo Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant liver neoplasm +MONDO:0002691 liver cancer NCIT:C7692 MONDO:equivalentTo Resectable Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resectable malignant neoplasm of liver +MONDO:0002691 liver cancer NCIT:C7708 MONDO:equivalentTo Childhood Malignant Liver Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant liver neoplasm +MONDO:0002691 liver cancer NCIT:C7711 MONDO:equivalentTo Adult Liver Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer +MONDO:0002691 liver cancer NCIT:C7711 MONDO:equivalentTo Adult Liver Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liver cancer +MONDO:0002691 liver cancer NCIT:C8609 MONDO:equivalentTo Malignant Hepatobiliary Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant hepato-biliary neoplasm +MONDO:0002714 central nervous system cancer NCIT:C5448 MONDO:equivalentTo Childhood Malignant Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant central nervous system neoplasm +MONDO:0002718 central nervous system teratoma NCIT:C6204 MONDO:equivalentTo Childhood Central Nervous System Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system teratoma +MONDO:0002718 central nervous system teratoma NCIT:C6204 MONDO:equivalentTo Childhood Central Nervous System Teratoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central nervous system teratoma +MONDO:0002786 diencephalic cancer NCIT:C5125 MONDO:equivalentTo Diencephalic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tumor of diencephalon +MONDO:0002821 trabecular follicular adenocarcinoma NCIT:C46095 MONDO:equivalentTo Solid/Trabecular Variant Thyroid Gland Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular adenocarcinoma, trabecular +MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features NCIT:C7960 MONDO:equivalentTo Childhood Rhabdomyosarcoma with Mixed Embryonal and Alveolar Features semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed alveolar rhabdomyosarcoma +MONDO:0002870 tricuspid valve insufficiency NCIT:C50843 MONDO:equivalentTo Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tricuspid regurgitation +MONDO:0002870 tricuspid valve insufficiency NCIT:C50843 MONDO:equivalentTo Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tricuspid valve regurgitation +MONDO:0002870 tricuspid valve insufficiency NCIT:C50843 MONDO:equivalentTo Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation +MONDO:0002877 cervical carcinosarcoma NCIT:C40226 MONDO:equivalentTo Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical mixed epithelial and mesenchymal neoplasm MONDO:0002877 cervical carcinosarcoma NCIT:C40226 MONDO:equivalentTo Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm +MONDO:0002900 cerebral neuroblastoma NCIT:C114775 MONDO:equivalentTo Childhood Central Nervous System Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system neuroblastoma +MONDO:0002926 clear cell sarcoma NCIT:C27370 MONDO:equivalentTo Adult Clear Cell Sarcoma of Soft Tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clear cell sarcoma of soft tissue +MONDO:0002926 clear cell sarcoma NCIT:C27371 MONDO:equivalentTo Childhood Clear Cell Sarcoma of Soft Tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clear cell sarcoma of soft tissue +MONDO:0002928 carcinosarcoma NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal mixed tumor +MONDO:0002928 carcinosarcoma NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed mesodermal (mullerian) tumor +MONDO:0002928 carcinosarcoma NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian mixed tumor MONDO:0002928 carcinosarcoma NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor +MONDO:0002928 carcinosarcoma NCIT:C8975 MONDO:equivalentTo Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant mixed mesodermal (mullerian) tumor +MONDO:0002928 carcinosarcoma NCIT:C8975 MONDO:equivalentTo Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant mixed mullerian tumor MONDO:0002928 carcinosarcoma NCIT:C8975 MONDO:equivalentTo Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor +MONDO:0002937 nodular basal cell carcinoma NCIT:C62282 MONDO:equivalentTo Skin Nodular Basal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular basal cell carcinoma +MONDO:0003030 endometrioid stromal sarcoma of the cervix NCIT:C40222 MONDO:equivalentTo Cervical Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrioid stromal sarcoma of the cervix +MONDO:0003030 endometrioid stromal sarcoma of the cervix NCIT:C40222 MONDO:equivalentTo Cervical Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrioid stromal sarcoma of the cervix +MONDO:0003112 malignant gastric germ cell tumor NCIT:C6448 MONDO:equivalentTo Gastric Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germ cell tumor of the stomach +MONDO:0003171 pineal gland astrocytoma NCIT:C115327 MONDO:equivalentTo Adult Pineal Gland Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineal gland astrocytoma +MONDO:0003202 pituitary gland basophilic carcinoma NCIT:C4150 MONDO:equivalentTo Basophilic Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basophil adenocarcinoma +MONDO:0003202 pituitary gland basophilic carcinoma NCIT:C4150 MONDO:equivalentTo Basophilic Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basophil carcinoma +MONDO:0003210 intrahepatic cholangiocarcinoma NCIT:C8265 MONDO:equivalentTo Adult Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrahepatic bile duct cancer (cholangiocarcinoma) +MONDO:0003210 intrahepatic cholangiocarcinoma NCIT:C96805 MONDO:equivalentTo Small Duct Intrahepatic Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral cholangiocarcinoma +MONDO:0003266 ependymal tumor NCIT:C115192 MONDO:equivalentTo Childhood Ependymal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymal tumor +MONDO:0003266 ependymal tumor NCIT:C115192 MONDO:equivalentTo Childhood Ependymal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymal tumor +MONDO:0003266 ependymal tumor NCIT:C68690 MONDO:equivalentTo Adult Ependymal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymal tumor +MONDO:0003266 ependymal tumor NCIT:C68690 MONDO:equivalentTo Adult Ependymal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymal tumor +MONDO:0003268 mixed glioma NCIT:C115195 MONDO:equivalentTo Childhood Mixed Glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed glioma +MONDO:0003268 mixed glioma NCIT:C115195 MONDO:equivalentTo Childhood Mixed Glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed glioma +MONDO:0003268 mixed glioma NCIT:C115250 MONDO:equivalentTo Adult Mixed Glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed glioma +MONDO:0003268 mixed glioma NCIT:C115250 MONDO:equivalentTo Adult Mixed Glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed glioma +MONDO:0003306 atypical neurofibroma NCIT:C178255 MONDO:equivalentTo Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical neurofibroma +MONDO:0003306 atypical neurofibroma NCIT:C178255 MONDO:equivalentTo Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical neurofibroma +MONDO:0003313 endometrioid stromal sarcoma of the vagina NCIT:C40271 MONDO:equivalentTo Vaginal Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrioid stromal sarcoma of the vagina +MONDO:0003313 endometrioid stromal sarcoma of the vagina NCIT:C40271 MONDO:equivalentTo Vaginal Low Grade Endometrioid Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrioid stromal sarcoma of the vagina +MONDO:0003510 malignant testicular germ cell tumor NCIT:C68628 MONDO:equivalentTo Childhood Malignant Testicular Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant testicular germ cell tumor +MONDO:0003510 malignant testicular germ cell tumor NCIT:C68628 MONDO:equivalentTo Childhood Malignant Testicular Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant testicular germ cell tumor +MONDO:0003531 papillary eccrine carcinoma NCIT:C27527 MONDO:equivalentTo Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubular apocrine adenoma MONDO:0003531 papillary eccrine carcinoma NCIT:C27527 MONDO:equivalentTo Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma +MONDO:0003539 T-cell adult acute lymphocytic leukemia NCIT:C126112 MONDO:equivalentTo Infant T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t acute lymphoblastic leukemia +MONDO:0003638 lung meningioma NCIT:C5276 MONDO:equivalentTo Primary Lung Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary pulmonary meningioma +MONDO:0003649 esophageal neuroendocrine tumor NCIT:C5821 MONDO:equivalentTo Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal neuroendocrine neoplasm +MONDO:0003649 esophageal neuroendocrine tumor NCIT:C5821 MONDO:equivalentTo Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine neoplasm of esophagus MONDO:0003649 esophageal neuroendocrine tumor NCIT:C5821 MONDO:equivalentTo Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal neuroendocrine neoplasm +MONDO:0003671 septal myocardial infarction NCIT:C35519 MONDO:equivalentTo Septal Myocardial Infarction by ECG Finding semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym septal myocardial infarction +MONDO:0003723 blunt duct adenosis of breast NCIT:C54181 MONDO:equivalentTo Columnar Cell Change of the Breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blunt duct adenosis of the breast +MONDO:0003723 blunt duct adenosis of breast NCIT:C54181 MONDO:equivalentTo Columnar Cell Change of the Breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast blunt duct adenosis +MONDO:0003723 blunt duct adenosis of breast NCIT:C54181 MONDO:equivalentTo Columnar Cell Change of the Breast semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blunt duct adenosis of breast +MONDO:0003731 adult central nervous system teratoma NCIT:C6204 MONDO:equivalentTo Childhood Central Nervous System Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system teratoma +MONDO:0003766 thalamic cancer NCIT:C6221 MONDO:equivalentTo Thalamic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tumor of thalamus +MONDO:0003812 ovarian endometrial cancer NCIT:C6257 MONDO:equivalentTo Ovarian Endometrioid Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrioid neoplasm of ovary +MONDO:0003812 ovarian endometrial cancer NCIT:C6257 MONDO:equivalentTo Ovarian Endometrioid Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian endometrioid neoplasm +MONDO:0003822 non-invasive bladder papillary urothelial neoplasm NCIT:C191672 MONDO:equivalentTo Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillary urothelial neoplasm of low malignant potential MONDO:0003822 non-invasive bladder papillary urothelial neoplasm NCIT:C191672 MONDO:equivalentTo Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papillary urothelial neoplasm of low malignant potential +MONDO:0003822 non-invasive bladder papillary urothelial neoplasm NCIT:C27884 MONDO:equivalentTo Bladder Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bladder papillary neoplasm of low malignant potential +MONDO:0003822 non-invasive bladder papillary urothelial neoplasm NCIT:C27884 MONDO:equivalentTo Bladder Papillary Urothelial Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bladder punlmp +MONDO:0003857 adult intracranial malignant hemangiopericytoma NCIT:C129527 MONDO:equivalentTo Central Nervous System Solitary Fibrous Tumor, Grade 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system solitary fibrous tumor/hemangiopericytoma, grade type 3 +MONDO:0003899 adult myxoid chondrosarcoma NCIT:C7924 MONDO:equivalentTo Adult Extraskeletal Myxoid Chondrosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult myxoid chondrosarcoma +MONDO:0003899 adult myxoid chondrosarcoma NCIT:C7924 MONDO:equivalentTo Adult Extraskeletal Myxoid Chondrosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult myxoid chondrosarcoma +MONDO:0003945 bone epithelioid hemangioma NCIT:C6477 MONDO:equivalentTo Bone Hemangioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemangioma of bone +MONDO:0003945 bone epithelioid hemangioma NCIT:C6477 MONDO:equivalentTo Bone Hemangioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osseous hemangioma +MONDO:0004075 infiltrating lipoma NCIT:C7450 MONDO:equivalentTo Intramuscular Lipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intramuscular lipoma MONDO:0004075 infiltrating lipoma NCIT:C7450 MONDO:equivalentTo Intramuscular Lipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intramuscular lipoma +MONDO:0004180 benign urinary system neoplasm NCIT:C192667 MONDO:equivalentTo Benign Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign urinary tract neoplasm +MONDO:0004180 benign urinary system neoplasm NCIT:C192667 MONDO:equivalentTo Benign Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign urinary tract tumor MONDO:0004180 benign urinary system neoplasm NCIT:C192667 MONDO:equivalentTo Benign Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign urinary tract neoplasm +MONDO:0004182 stage IVb bladder cancer NCIT:C140426 MONDO:equivalentTo Stage IVB Bladder Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage ivb bladder cancer +MONDO:0004182 stage IVb bladder cancer NCIT:C140426 MONDO:equivalentTo Stage IVB Bladder Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stage ivb bladder cancer +MONDO:0004249 pediatric supratentorial ependymoma NCIT:C6772 MONDO:equivalentTo Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric supratentorial ependymoblastoma +MONDO:0004387 luteoma of pregnancy NCIT:C3202 MONDO:equivalentTo Ovarian Stromal Luteoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym luteoma +MONDO:0004526 mixed endometrial stromal and smooth muscle tumor NCIT:C40179 MONDO:equivalentTo Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine corpus soft tissue neoplasm MONDO:0004526 mixed endometrial stromal and smooth muscle tumor NCIT:C40179 MONDO:equivalentTo Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm +MONDO:0004557 congenital fibrosarcoma NCIT:C142823 MONDO:equivalentTo Congenital Peribronchial Myofibroblastic Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital fibrosarcoma +MONDO:0004557 congenital fibrosarcoma NCIT:C142823 MONDO:equivalentTo Congenital Peribronchial Myofibroblastic Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital fibrosarcoma +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance NCIT:C7054 MONDO:equivalentTo Childhood Lymphocyte-Rich Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance NCIT:C7223 MONDO:equivalentTo Adult Lymphocyte-Rich Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma +MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion NCIT:C9283 MONDO:equivalentTo Lymphocyte-Depleted Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-depleted classical hodgkin lymphoma +MONDO:0004627 duodenitis NCIT:C22079 MONDO:equivalentTo Acute Enteritis of the Mouse Intestinal Tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duodenitis +MONDO:0004627 duodenitis NCIT:C22079 MONDO:equivalentTo Acute Enteritis of the Mouse Intestinal Tract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym duodenitis +MONDO:0004631 tongue cancer NCIT:C4824 MONDO:equivalentTo Tongue Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancer of tongue +MONDO:0004631 tongue cancer NCIT:C4824 MONDO:equivalentTo Tongue Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tongue cancer +MONDO:0004631 tongue cancer NCIT:C4824 MONDO:equivalentTo Tongue Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tongue cancer +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity NCIT:C8063 MONDO:equivalentTo Childhood Mixed Cellularity Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity NCIT:C9127 MONDO:equivalentTo Adult Mixed Cellularity Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma +MONDO:0004639 perinatal necrotizing enterocolitis NCIT:C84915 MONDO:equivalentTo Necrotizing Enterocolitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym necrotizing enterocolitis in fetus or newborn +MONDO:0004658 breast carcinoma in situ NCIT:C139534 MONDO:equivalentTo Anatomic Stage 0 Breast Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 breast cancer +MONDO:0004658 breast carcinoma in situ NCIT:C139555 MONDO:equivalentTo Prognostic Stage 0 Breast Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 breast cancer +MONDO:0004660 lung carcinoma in situ NCIT:C136469 MONDO:equivalentTo Stage 0 Lung Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 lung cancer +MONDO:0004663 colon carcinoma in situ NCIT:C134271 MONDO:equivalentTo Stage 0 Colon Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 colon cancer +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma NCIT:C8062 MONDO:equivalentTo Childhood Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma NCIT:C8062 MONDO:equivalentTo Childhood Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma NCIT:C9126 MONDO:equivalentTo Adult Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma NCIT:C9126 MONDO:equivalentTo Adult Nodular Sclerosis Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma +MONDO:0004696 larynx carcinoma in situ NCIT:C6121 MONDO:equivalentTo Stage 0 Laryngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 laryngeal cancer ajcc v8 +MONDO:0004703 bladder carcinoma in situ NCIT:C140418 MONDO:equivalentTo Stage 0is Bladder Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is bladder cancer +MONDO:0004703 bladder carcinoma in situ NCIT:C7895 MONDO:equivalentTo Stage 0 Bladder Cancer AJCC v6 and v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 urinary bladder carcinoma +MONDO:0004708 esophagus carcinoma in situ NCIT:C3637 MONDO:equivalentTo Stage 0 Esophageal Cancer AJCC v6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 esophageal cancer +MONDO:0004716 stomach carcinoma in situ NCIT:C133647 MONDO:equivalentTo Clinical Stage 0 Gastric Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 gastric (stomach) cancer +MONDO:0004716 stomach carcinoma in situ NCIT:C133654 MONDO:equivalentTo Pathologic Stage 0 Gastric Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 gastric (stomach) cancer +MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of submandibular gland +MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant submandibular gland neoplasm +MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant tumor of submandibular gland +MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant tumor of the submandibular gland MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm +MONDO:0004725 rectum carcinoma in situ NCIT:C134291 MONDO:equivalentTo Stage 0 Rectal Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 rectal cancer +MONDO:0004938 substance dependence NCIT:C45996 MONDO:equivalentTo Dependency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dependence +MONDO:0004952 Hodgkins lymphoma NCIT:C7702 MONDO:equivalentTo Adult Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin lymphoma +MONDO:0004952 Hodgkins lymphoma NCIT:C7714 MONDO:equivalentTo Childhood Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin lymphoma +MONDO:0004957 mucinous adenocarcinoma NCIT:C27379 MONDO:equivalentTo Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucin-producing adenocarcinoma MONDO:0004957 mucinous adenocarcinoma NCIT:C27379 MONDO:equivalentTo Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma +MONDO:0004963 T-cell acute lymphoblastic leukemia NCIT:C126112 MONDO:equivalentTo Infant T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t acute lymphoblastic leukemia +MONDO:0004972 adenoma NCIT:C4196 MONDO:equivalentTo Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acinic cell adenoma +MONDO:0005004 clear cell adenocarcinoma NCIT:C4156 MONDO:equivalentTo Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym water-clear cell adenocarcinoma MONDO:0005004 clear cell adenocarcinoma NCIT:C4156 MONDO:equivalentTo Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma +MONDO:0005035 ganglioneuroblastoma NCIT:C124271 MONDO:equivalentTo Childhood Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ganglioneuroblastoma +MONDO:0005035 ganglioneuroblastoma NCIT:C124271 MONDO:equivalentTo Childhood Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ganglioneuroblastoma +MONDO:0005055 Kaposi's sarcoma NCIT:C3551 MONDO:equivalentTo Lung Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of lung +MONDO:0005055 Kaposi's sarcoma NCIT:C4578 MONDO:equivalentTo Conjunctival Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of conjunctiva +MONDO:0005055 Kaposi's sarcoma NCIT:C4579 MONDO:equivalentTo Corneal Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of cornea +MONDO:0005055 Kaposi's sarcoma NCIT:C6749 MONDO:equivalentTo Palate Kaposi Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kaposis sarcoma of palate +MONDO:0005056 keratinizing squamous cell carcinoma NCIT:C136713 MONDO:equivalentTo Lung Keratinizing Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratinizing squamous cell carcinoma +MONDO:0005056 keratinizing squamous cell carcinoma NCIT:C136713 MONDO:equivalentTo Lung Keratinizing Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keratinizing squamous cell carcinoma +MONDO:0005058 leiomyosarcoma NCIT:C7810 MONDO:equivalentTo Adult Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma +MONDO:0005058 leiomyosarcoma NCIT:C7810 MONDO:equivalentTo Adult Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leiomyosarcoma +MONDO:0005058 leiomyosarcoma NCIT:C8093 MONDO:equivalentTo Childhood Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leiomyosarcoma +MONDO:0005058 leiomyosarcoma NCIT:C8093 MONDO:equivalentTo Childhood Leiomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leiomyosarcoma +MONDO:0005061 lung adenocarcinoma NCIT:C27745 MONDO:equivalentTo Non-Small Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonsmall cell adenocarcinoma +MONDO:0005072 neuroblastoma NCIT:C124270 MONDO:equivalentTo Childhood Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroblastoma +MONDO:0005072 neuroblastoma NCIT:C124270 MONDO:equivalentTo Childhood Neuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuroblastoma +MONDO:0005102 undifferentiated (embryonal) sarcoma NCIT:C121793 MONDO:equivalentTo Undifferentiated Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated sarcoma +MONDO:0005103 well-differentiated liposarcoma NCIT:C176981 MONDO:equivalentTo Atypical Lipomatous Tumor/Well Differentiated Liposarcoma of Deep Soft Tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well differentiated liposarcoma of deep soft tissue +MONDO:0005104 aJCC grade 1 sarcoma NCIT:C9024 MONDO:equivalentTo Sarcoma G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ajcc grade type 1 sarcoma +MONDO:0005104 aJCC grade 1 sarcoma NCIT:C9024 MONDO:equivalentTo Sarcoma G1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ajcc grade type 1 sarcoma +MONDO:0005164 fibrosarcoma NCIT:C6605 MONDO:equivalentTo Soft Tissue Fibrosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrosarcoma of soft tissue +MONDO:0005193 prostate intraepithelial neoplasia NCIT:C50101 MONDO:equivalentTo Pin Device semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pin +MONDO:0005212 rhabdomyosarcoma NCIT:C7705 MONDO:equivalentTo Childhood Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhabdomyosarcoma +MONDO:0005212 rhabdomyosarcoma NCIT:C7705 MONDO:equivalentTo Childhood Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhabdomyosarcoma +MONDO:0005212 rhabdomyosarcoma NCIT:C9130 MONDO:equivalentTo Adult Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhabdomyosarcoma +MONDO:0005212 rhabdomyosarcoma NCIT:C9130 MONDO:equivalentTo Adult Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhabdomyosarcoma +MONDO:0005233 non-small cell lung carcinoma NCIT:C91445 MONDO:equivalentTo Non-Small Cell Lung Cancer Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-small cell lung cancer +MONDO:0005369 carcinoid tumor NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoid tumor +MONDO:0005369 carcinoid tumor NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carcinoid tumor +MONDO:0005369 carcinoid tumor NCIT:C203250 MONDO:equivalentTo Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net g1 +MONDO:0005369 carcinoid tumor NCIT:C203250 MONDO:equivalentTo Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumor g1 MONDO:0005369 carcinoid tumor NCIT:C203250 MONDO:equivalentTo Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor g1 +MONDO:0005412 duodenal ulcer NCIT:C35263 MONDO:equivalentTo Stress Ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym curling ulcer +MONDO:0005461 endometrium adenocarcinoma NCIT:C6290 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial adenoacanthoma +MONDO:0005461 endometrium adenocarcinoma NCIT:C6290 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial endometrioid adenocarcinoma with squamous differentiation +MONDO:0005499 brain glioma NCIT:C162993 MONDO:equivalentTo Malignant Brain Glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain malignant glioma +MONDO:0005512 malignant peritoneal mesothelioma NCIT:C9350 MONDO:equivalentTo Peritoneal Malignant Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant mesothelioma of peritoneum +MONDO:0005512 malignant peritoneal mesothelioma NCIT:C9350 MONDO:equivalentTo Peritoneal Malignant Mesothelioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant peritoneal mesothelioma +MONDO:0005647 anogenital human papillomavirus infection NCIT:C2960 MONDO:equivalentTo Condyloma Acuminatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genital warts +MONDO:0005647 anogenital human papillomavirus infection NCIT:C2960 MONDO:equivalentTo Condyloma Acuminatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venereal wart +MONDO:0006025 autosomal recessive disease NCIT:C85866 MONDO:equivalentTo Autosomal Recessive Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive disorder +MONDO:0006036 granulosa cell tumor NCIT:C66750 MONDO:equivalentTo Adult Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulosa cell tumor, adult type +MONDO:0006096 atypical endometrial hyperplasia NCIT:C27789 MONDO:equivalentTo Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hyperplasia of endometrium +MONDO:0006096 atypical endometrial hyperplasia NCIT:C27789 MONDO:equivalentTo Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hyperplasia of the endometrium +MONDO:0006096 atypical endometrial hyperplasia NCIT:C27789 MONDO:equivalentTo Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial hyperplasia with atypia +MONDO:0006096 atypical endometrial hyperplasia NCIT:C27789 MONDO:equivalentTo Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical endometrial hyperplasia +MONDO:0006097 atypical lipomatous tumor NCIT:C176979 MONDO:equivalentTo Lipoma-Like Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoma-like liposarcoma +MONDO:0006097 atypical lipomatous tumor NCIT:C176980 MONDO:equivalentTo Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial well differentiated liposarcoma +MONDO:0006097 atypical lipomatous tumor NCIT:C176980 MONDO:equivalentTo Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well differentiated liposarcoma of superficial soft tissue +MONDO:0006130 central nervous system neoplasm NCIT:C5131 MONDO:equivalentTo Adult Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system neoplasm +MONDO:0006130 central nervous system neoplasm NCIT:C5131 MONDO:equivalentTo Adult Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central nervous system neoplasm +MONDO:0006130 central nervous system neoplasm NCIT:C5132 MONDO:equivalentTo Childhood Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system neoplasm +MONDO:0006130 central nervous system neoplasm NCIT:C5132 MONDO:equivalentTo Childhood Central Nervous System Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central nervous system neoplasm +MONDO:0006210 fibrolamellar hepatocellular carcinoma NCIT:C114992 MONDO:equivalentTo Adult Fibrolamellar Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrolamellar cancer +MONDO:0006243 hepatoid adenocarcinoma NCIT:C95465 MONDO:equivalentTo Pancreatic Hepatoid Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoid carcinoma +MONDO:0006295 malignant urinary system neoplasm NCIT:C192668 MONDO:equivalentTo Malignant Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant urinary tract neoplasm MONDO:0006295 malignant urinary system neoplasm NCIT:C192668 MONDO:equivalentTo Malignant Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant urinary tract neoplasm +MONDO:0006329 olfactory neuroblastoma NCIT:C6016 MONDO:equivalentTo Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paranasal sinus olfactory neuroblastoma MONDO:0006329 olfactory neuroblastoma NCIT:C6016 MONDO:equivalentTo Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma +MONDO:0006363 peritoneal multicystic mesothelioma NCIT:C3765 MONDO:equivalentTo Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicystic mesothelioma MONDO:0006363 peritoneal multicystic mesothelioma NCIT:C3765 MONDO:equivalentTo Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma +MONDO:0006451 thymic carcinoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant thymoma +MONDO:0006451 thymic carcinoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thymoma, malignant MONDO:0006451 thymic carcinoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma +MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma NCIT:C187995 MONDO:equivalentTo Thyroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid gland carcinosarcoma +MONDO:0006519 rectal cancer NCIT:C118823 MONDO:equivalentTo Childhood Rectal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal cancer +MONDO:0006519 rectal cancer NCIT:C118823 MONDO:equivalentTo Childhood Rectal Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rectal cancer +MONDO:0006663 perinatal asphyxia NCIT:C35549 MONDO:equivalentTo Hypoxic Ischemic Encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hie +MONDO:0006715 coronary stenosis NCIT:C80427 MONDO:equivalentTo Coronary Artery Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coronary artery stenosis +MONDO:0006715 coronary stenosis NCIT:C80427 MONDO:equivalentTo Coronary Artery Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary artery stenosis +MONDO:0006717 cutaneous fibrous histiocytoma NCIT:C8402 MONDO:equivalentTo Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrohistiocytic neoplasm MONDO:0006717 cutaneous fibrous histiocytoma NCIT:C8402 MONDO:equivalentTo Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm +MONDO:0006738 eccrine acrospiroma NCIT:C205462 MONDO:equivalentTo Eccrine Poroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eccrine poroma MONDO:0006738 eccrine acrospiroma NCIT:C205462 MONDO:equivalentTo Eccrine Poroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eccrine poroma +MONDO:0006745 endometrioid stromal sarcoma NCIT:C126998 MONDO:equivalentTo Uterine Corpus High Grade Endometrial Stromal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial stromal sarcoma, high grade +MONDO:0006745 endometrioid stromal sarcoma NCIT:C84686 MONDO:equivalentTo Empty Sella Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym empty sella syndrome +MONDO:0006745 endometrioid stromal sarcoma NCIT:C84686 MONDO:equivalentTo Empty Sella Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label empty sella syndrome +MONDO:0006891 partial motor epilepsy NCIT:C50847 MONDO:equivalentTo Partial Motor Seizure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym focal motor seizure +MONDO:0007243 Burkitt lymphoma NCIT:C9062 MONDO:equivalentTo Adult Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burkitt lymphoma +MONDO:0007243 Burkitt lymphoma NCIT:C9062 MONDO:equivalentTo Adult Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym burkitt lymphoma +MONDO:0007243 Burkitt lymphoma NCIT:C9095 MONDO:equivalentTo Childhood Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burkitt lymphoma +MONDO:0007243 Burkitt lymphoma NCIT:C9095 MONDO:equivalentTo Childhood Burkitt Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym burkitt lymphoma +MONDO:0007254 breast cancer NCIT:C118809 MONDO:equivalentTo Childhood Breast Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast cancer +MONDO:0007254 breast cancer NCIT:C118809 MONDO:equivalentTo Childhood Breast Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym breast cancer +MONDO:0007380 lattice corneal dystrophy type I NCIT:C51230 MONDO:equivalentTo TGFBI wt Allele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lcd1 +MONDO:0007576 esophageal cancer NCIT:C118812 MONDO:equivalentTo Childhood Esophageal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal cancer +MONDO:0007576 esophageal cancer NCIT:C118812 MONDO:equivalentTo Childhood Esophageal Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym esophageal cancer +MONDO:0007667 subependymoma NCIT:C115623 MONDO:equivalentTo Adult Subependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subependymoma +MONDO:0007667 subependymoma NCIT:C115623 MONDO:equivalentTo Adult Subependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymoma +MONDO:0007896 acute monocytic leukemia NCIT:C7318 MONDO:equivalentTo Acute Monoblastic and Monocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute monoblastic leukemia and acute monocytic leukemia +MONDO:0007896 acute monocytic leukemia NCIT:C9163 MONDO:equivalentTo Childhood Acute Monocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute monocytic leukemia +MONDO:0007896 acute monocytic leukemia NCIT:C9163 MONDO:equivalentTo Childhood Acute Monocytic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute monocytic leukemia +MONDO:0008056 myotonic dystrophy type 1 NCIT:C84914 MONDO:equivalentTo Myotonic Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy +MONDO:0008056 myotonic dystrophy type 1 NCIT:C84914 MONDO:equivalentTo Myotonic Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotonic dystrophy +MONDO:0008145 Ollier disease NCIT:C53457 MONDO:equivalentTo Multiple Osteochondromas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondromatosis +MONDO:0008280 Peutz-Jeghers syndrome NCIT:C36205 MONDO:equivalentTo Peutz-Jeghers Polyp of the Stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric peutz-jeghers polyp +MONDO:0008375 retinal detachment NCIT:C55886 MONDO:equivalentTo Retinal Detachment, CTCAE 3.0 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal detachment +MONDO:0008375 retinal detachment NCIT:C55886 MONDO:equivalentTo Retinal Detachment, CTCAE 3.0 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinal detachment +MONDO:0008698 achalasia NCIT:C84699 MONDO:equivalentTo Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achalasia of cardia +MONDO:0008698 achalasia NCIT:C84699 MONDO:equivalentTo Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal achalasia +MONDO:0008698 achalasia NCIT:C84699 MONDO:equivalentTo Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal achalasia +MONDO:0009330 hemangiopericytoma, malignant NCIT:C6894 MONDO:equivalentTo Malignant Solitary Fibrous Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant hemangiopericytoma +MONDO:0009348 classic Hodgkin lymphoma NCIT:C69138 MONDO:equivalentTo Adult Classic Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym classical hodgkin lymphoma +MONDO:0009692 primary myelofibrosis NCIT:C188314 MONDO:equivalentTo Chronic Phase Primary Myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic myelofibrosis +MONDO:0009831 malignant pancreatic neoplasm NCIT:C91446 MONDO:equivalentTo Pancreatic Cancer Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic cancer +MONDO:0009933 congenital pulmonary lymphangiectasia NCIT:C45630 MONDO:equivalentTo Diffuse Pulmonary Lymphangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse pulmonary lymphangiomatosis MONDO:0009933 congenital pulmonary lymphangiectasia NCIT:C45630 MONDO:equivalentTo Diffuse Pulmonary Lymphangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse pulmonary lymphangiomatosis +MONDO:0009958 adult Refsum disease NCIT:C85043 MONDO:equivalentTo Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym refsum disorder +MONDO:0009958 adult Refsum disease NCIT:C85043 MONDO:equivalentTo Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disorder +MONDO:0009993 embryonal rhabdomyosarcoma NCIT:C7957 MONDO:equivalentTo Childhood Embryonal Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonal rhabdomyosarcoma +MONDO:0009993 embryonal rhabdomyosarcoma NCIT:C7957 MONDO:equivalentTo Childhood Embryonal Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym embryonal rhabdomyosarcoma +MONDO:0009994 alveolar rhabdomyosarcoma NCIT:C7958 MONDO:equivalentTo Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar childhood rhabdomyosarcoma +MONDO:0009994 alveolar rhabdomyosarcoma NCIT:C7958 MONDO:equivalentTo Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar rhabdomyosarcoma +MONDO:0009994 alveolar rhabdomyosarcoma NCIT:C7958 MONDO:equivalentTo Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric alveolar rhabdomyosarcoma +MONDO:0009994 alveolar rhabdomyosarcoma NCIT:C7958 MONDO:equivalentTo Childhood Alveolar Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar rhabdomyosarcoma +MONDO:0010198 Wernicke-Korsakoff syndrome NCIT:C84803 MONDO:equivalentTo Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym korsakoff syndrome +MONDO:0010198 Wernicke-Korsakoff syndrome NCIT:C84803 MONDO:equivalentTo Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome +MONDO:0010264 X-linked adrenal hypoplasia congenita NCIT:C35261 MONDO:equivalentTo Congenital Adrenal Gland Hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia +MONDO:0010434 synovial sarcoma NCIT:C7817 MONDO:equivalentTo Adult Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synovial sarcoma +MONDO:0010434 synovial sarcoma NCIT:C7817 MONDO:equivalentTo Adult Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym synovial sarcoma +MONDO:0010434 synovial sarcoma NCIT:C8089 MONDO:equivalentTo Childhood Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synovial sarcoma +MONDO:0010434 synovial sarcoma NCIT:C8089 MONDO:equivalentTo Childhood Synovial Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym synovial sarcoma +MONDO:0010720 partial androgen insensitivity syndrome NCIT:C142825 MONDO:equivalentTo Pulmonary Artery Intimal Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pais +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy NCIT:C51152 MONDO:equivalentTo CDH3 wt Allele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hjmd +MONDO:0011655 alveolar soft part sarcoma NCIT:C8092 MONDO:equivalentTo Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar soft part sarcoma +MONDO:0011655 alveolar soft part sarcoma NCIT:C8092 MONDO:equivalentTo Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar soft part sarcoma +MONDO:0011719 gastrointestinal stromal tumor NCIT:C123906 MONDO:equivalentTo Childhood Gastrointestinal Stromal Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastrointestinal stromal tumor (gist) +MONDO:0011719 gastrointestinal stromal tumor NCIT:C27940 MONDO:equivalentTo Gastrointestinal Autonomic Nerve Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gant +MONDO:0011719 gastrointestinal stromal tumor NCIT:C35778 MONDO:equivalentTo Gastrointestinal Stromal Tumor of the Gastrointestinal Tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stromal tumor of gastrointestinal tract +MONDO:0011948 pontocerebellar hypoplasia type 3 NCIT:C71920 MONDO:equivalentTo Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clam +MONDO:0011948 pontocerebellar hypoplasia type 3 NCIT:C71920 MONDO:equivalentTo Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clam +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive NCIT:C7320 MONDO:equivalentTo Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic myelogenous leukemia (cml) +MONDO:0012825 extraskeletal myxoid chondrosarcoma NCIT:C7924 MONDO:equivalentTo Adult Extraskeletal Myxoid Chondrosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym extraskeletal myxoid chondrosarcoma +MONDO:0012883 acute promyelocytic leukemia NCIT:C7968 MONDO:equivalentTo Childhood Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute promyelocytic leukemia with pml-rara +MONDO:0012883 acute promyelocytic leukemia NCIT:C9155 MONDO:equivalentTo Adult Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute promyelocytic leukemia with pml-rara +MONDO:0015277 medullary thyroid gland carcinoma NCIT:C95466 MONDO:equivalentTo Pancreatic Medullary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary carcinoma +MONDO:0015523 epithelioid hemangioendothelioma NCIT:C114923 MONDO:equivalentTo Adult Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epithelioid hemangioendothelioma +MONDO:0015523 epithelioid hemangioendothelioma NCIT:C114923 MONDO:equivalentTo Adult Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epithelioid hemangioendothelioma +MONDO:0015523 epithelioid hemangioendothelioma NCIT:C114926 MONDO:equivalentTo Childhood Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epithelioid hemangioendothelioma +MONDO:0015523 epithelioid hemangioendothelioma NCIT:C114926 MONDO:equivalentTo Childhood Epithelioid Hemangioendothelioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epithelioid hemangioendothelioma +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NCIT:C85864 MONDO:equivalentTo Neuronal Ceroid Lipofuscinosis Type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym late infantile neuronal ceroid lipofuscinosis +MONDO:0015686 primary peritoneal carcinoma NCIT:C4182 MONDO:equivalentTo Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous surface papillary carcinoma MONDO:0015686 primary peritoneal carcinoma NCIT:C4182 MONDO:equivalentTo Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma +MONDO:0016057 isolated encephalocele NCIT:C84687 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalocele +MONDO:0016057 isolated encephalocele NCIT:C84687 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele +MONDO:0016222 spindle cell hemangioma NCIT:C176467 MONDO:equivalentTo Synovial Chondrosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sch +MONDO:0016222 spindle cell hemangioma NCIT:C205539 MONDO:equivalentTo Solid Cystic Hidradenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sch +MONDO:0016226 specific language disorder NCIT:C35546 MONDO:equivalentTo Dysphasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysphasia +MONDO:0016226 specific language disorder NCIT:C35546 MONDO:equivalentTo Dysphasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysphasia +MONDO:0016546 primary orthostatic tremor NCIT:C173819 MONDO:equivalentTo Primordial Odontogenic Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pot +MONDO:0016642 meningioma NCIT:C9093 MONDO:equivalentTo Adult Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningioma +MONDO:0016642 meningioma NCIT:C9093 MONDO:equivalentTo Adult Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningioma +MONDO:0016681 gliosarcoma NCIT:C114968 MONDO:equivalentTo Childhood Gliosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gliosarcoma +MONDO:0016681 gliosarcoma NCIT:C114968 MONDO:equivalentTo Childhood Gliosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gliosarcoma +MONDO:0016681 gliosarcoma NCIT:C68701 MONDO:equivalentTo Adult Gliosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gliosarcoma +MONDO:0016681 gliosarcoma NCIT:C68701 MONDO:equivalentTo Adult Gliosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gliosarcoma +MONDO:0016682 giant cell glioblastoma NCIT:C114966 MONDO:equivalentTo Childhood Giant Cell Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym giant cell glioblastoma +MONDO:0016682 giant cell glioblastoma NCIT:C68702 MONDO:equivalentTo Adult Giant Cell Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym giant cell glioblastoma +MONDO:0016683 gliomatosis cerebri NCIT:C114969 MONDO:equivalentTo Childhood Gliomatosis Cerebri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gliomatosis cerebri +MONDO:0016683 gliomatosis cerebri NCIT:C114969 MONDO:equivalentTo Childhood Gliomatosis Cerebri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gliomatosis cerebri +MONDO:0016684 anaplastic astrocytoma NCIT:C6215 MONDO:equivalentTo Childhood Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic astrocytoma +MONDO:0016684 anaplastic astrocytoma NCIT:C6215 MONDO:equivalentTo Childhood Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic astrocytoma +MONDO:0016684 anaplastic astrocytoma NCIT:C8257 MONDO:equivalentTo Adult Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic astrocytoma +MONDO:0016684 anaplastic astrocytoma NCIT:C8257 MONDO:equivalentTo Adult Anaplastic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic astrocytoma +MONDO:0016686 diffuse astrocytoma NCIT:C114967 MONDO:equivalentTo Childhood Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse astrocytoma +MONDO:0016686 diffuse astrocytoma NCIT:C114967 MONDO:equivalentTo Childhood Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse astrocytoma +MONDO:0016686 diffuse astrocytoma NCIT:C7174 MONDO:equivalentTo Adult Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse astrocytoma +MONDO:0016686 diffuse astrocytoma NCIT:C7174 MONDO:equivalentTo Adult Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym who grade ii astrocytoma +MONDO:0016686 diffuse astrocytoma NCIT:C7174 MONDO:equivalentTo Adult Diffuse Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse astrocytoma +MONDO:0016687 protoplasmic astrocytoma NCIT:C114972 MONDO:equivalentTo Childhood Protoplasmic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protoplasmic astrocytoma +MONDO:0016687 protoplasmic astrocytoma NCIT:C114972 MONDO:equivalentTo Childhood Protoplasmic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protoplasmic astrocytoma +MONDO:0016688 fibrillary astrocytoma NCIT:C114963 MONDO:equivalentTo Childhood Fibrillary Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrillary astrocytoma +MONDO:0016688 fibrillary astrocytoma NCIT:C114963 MONDO:equivalentTo Childhood Fibrillary Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrillary astrocytoma +MONDO:0016689 gemistocytic astrocytoma NCIT:C114964 MONDO:equivalentTo Childhood Gemistocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gemistocytic astrocytoma +MONDO:0016689 gemistocytic astrocytoma NCIT:C114964 MONDO:equivalentTo Childhood Gemistocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gemistocytic astrocytoma +MONDO:0016690 pleomorphic xanthoastrocytoma NCIT:C114971 MONDO:equivalentTo Childhood Pleomorphic Xanthoastrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pleomorphic xanthoastrocytoma +MONDO:0016691 pilocytic astrocytoma NCIT:C71016 MONDO:equivalentTo Adult Pilocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pilocytic astrocytoma +MONDO:0016691 pilocytic astrocytoma NCIT:C71016 MONDO:equivalentTo Adult Pilocytic Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pilocytic astrocytoma +MONDO:0016692 pilomyxoid astrocytoma NCIT:C114970 MONDO:equivalentTo Childhood Pilomyxoid Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pilomyxoid astrocytoma +MONDO:0016693 subependymal giant cell astrocytoma NCIT:C114785 MONDO:equivalentTo Childhood Subependymal Giant Cell Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymal giant cell astrocytoma +MONDO:0016693 subependymal giant cell astrocytoma NCIT:C71017 MONDO:equivalentTo Adult Subependymal Giant Cell Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymal giant cell astrocytoma +MONDO:0016696 anaplastic oligodendroglioma NCIT:C5447 MONDO:equivalentTo Childhood Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic oligodendroglioma +MONDO:0016696 anaplastic oligodendroglioma NCIT:C5447 MONDO:equivalentTo Childhood Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic oligodendroglioma +MONDO:0016696 anaplastic oligodendroglioma NCIT:C8270 MONDO:equivalentTo Adult Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic oligodendroglioma +MONDO:0016696 anaplastic oligodendroglioma NCIT:C8270 MONDO:equivalentTo Adult Anaplastic Oligodendroglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic oligodendroglioma +MONDO:0016698 ependymoma NCIT:C9092 MONDO:equivalentTo Adult Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymoma +MONDO:0016698 ependymoma NCIT:C9092 MONDO:equivalentTo Adult Ependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymoma +MONDO:0016699 myxopapillary ependymoma NCIT:C115263 MONDO:equivalentTo Adult Myxopapillary Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myxopapillary ependymoma +MONDO:0016699 myxopapillary ependymoma NCIT:C115263 MONDO:equivalentTo Adult Myxopapillary Ependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myxopapillary ependymoma +MONDO:0016700 anaplastic ependymoma NCIT:C124293 MONDO:equivalentTo Childhood Anaplastic Ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic ependymoma +MONDO:0016700 anaplastic ependymoma NCIT:C124293 MONDO:equivalentTo Childhood Anaplastic Ependymoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic ependymoma +MONDO:0016702 oligoastrocytoma NCIT:C114974 MONDO:equivalentTo Childhood Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligoastrocytoma +MONDO:0016702 oligoastrocytoma NCIT:C114974 MONDO:equivalentTo Childhood Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligoastrocytoma +MONDO:0016703 anaplastic oligoastrocytoma NCIT:C114973 MONDO:equivalentTo Childhood Anaplastic Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic oligoastrocytoma +MONDO:0016703 anaplastic oligoastrocytoma NCIT:C114973 MONDO:equivalentTo Childhood Anaplastic Oligoastrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic oligoastrocytoma +MONDO:0016715 ependymoblastoma NCIT:C115203 MONDO:equivalentTo Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonal tumor with multilayered rosettes, c19mc-altered +MONDO:0016715 ependymoblastoma NCIT:C186534 MONDO:equivalentTo Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonal tumor with multilayered rosettes MONDO:0016715 ependymoblastoma NCIT:C186534 MONDO:equivalentTo Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes +MONDO:0016717 choroid plexus neoplasm NCIT:C42080 MONDO:equivalentTo Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroid plexus neoplasm +MONDO:0016717 choroid plexus neoplasm NCIT:C42080 MONDO:equivalentTo Childhood Choroid Plexus Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus neoplasm +MONDO:0016722 pineoblastoma NCIT:C114812 MONDO:equivalentTo Childhood Pineoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineoblastoma +MONDO:0016722 pineoblastoma NCIT:C114812 MONDO:equivalentTo Childhood Pineoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineoblastoma +MONDO:0016723 pineocytoma NCIT:C8291 MONDO:equivalentTo Adult Pineocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineocytoma +MONDO:0016723 pineocytoma NCIT:C8291 MONDO:equivalentTo Adult Pineocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineocytoma +MONDO:0016733 ganglioglioma NCIT:C27362 MONDO:equivalentTo Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ganglioglioma +MONDO:0016733 ganglioglioma NCIT:C27362 MONDO:equivalentTo Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ganglioglioma +MONDO:0016824 infantile myofibromatosis NCIT:C180887 MONDO:equivalentTo Infantile Myofibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hemangiopericytoma +MONDO:0016824 infantile myofibromatosis NCIT:C27498 MONDO:equivalentTo Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hemangiopericytoma MONDO:0016824 infantile myofibromatosis NCIT:C27498 MONDO:equivalentTo Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma +MONDO:0016982 angiosarcoma NCIT:C9040 MONDO:equivalentTo Adult Angiosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym angiosarcoma +MONDO:0016982 angiosarcoma NCIT:C9040 MONDO:equivalentTo Adult Angiosarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angiosarcoma +MONDO:0016996 NK-cell enteropathy NCIT:C200037 MONDO:equivalentTo Indolent NK-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nk-cell enteropathy +MONDO:0017319 hereditary elliptocytosis NCIT:C85242 MONDO:equivalentTo Helium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym he +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma NCIT:C27365 MONDO:equivalentTo Adult Primary Cutaneous Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary cutaneous anaplastic large cell lymphoma +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma NCIT:C162304 MONDO:equivalentTo EBV-Related Gastric Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebv-associated gastric carcinoma +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma NCIT:C162304 MONDO:equivalentTo EBV-Related Gastric Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebvagc +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma NCIT:C162304 MONDO:equivalentTo EBV-Related Gastric Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epstein-barr virus-associated gastric carcinoma +MONDO:0017844 Sezary syndrome NCIT:C35300 MONDO:equivalentTo Sheehan Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sheehan syndrome +MONDO:0017844 Sezary syndrome NCIT:C35300 MONDO:equivalentTo Sheehan Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sheehan syndrome +MONDO:0017858 acute erythroid leukemia NCIT:C9153 MONDO:equivalentTo Adult Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute erythroid leukemia +MONDO:0017858 acute erythroid leukemia NCIT:C9153 MONDO:equivalentTo Adult Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute erythroid leukemia +MONDO:0017858 acute erythroid leukemia NCIT:C9164 MONDO:equivalentTo Childhood Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute erythroid leukemia +MONDO:0017858 acute erythroid leukemia NCIT:C9164 MONDO:equivalentTo Childhood Acute Erythroid Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute erythroid leukemia +MONDO:0017884 papillary renal cell carcinoma NCIT:C27890 MONDO:equivalentTo Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sporadic papillary renal cell carcinoma MONDO:0017884 papillary renal cell carcinoma NCIT:C27890 MONDO:equivalentTo Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma +MONDO:0017886 MIT family translocation renal cell carcinoma NCIT:C154494 MONDO:equivalentTo Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mit family translocation renal cell carcinoma +MONDO:0018017 goblet cell carcinoma NCIT:C201135 MONDO:equivalentTo Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goblet cell adenocarcinoma +MONDO:0018017 goblet cell carcinoma NCIT:C201135 MONDO:equivalentTo Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goblet cell carcinoid MONDO:0018017 goblet cell carcinoma NCIT:C201135 MONDO:equivalentTo Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goblet cell adenocarcinoma +MONDO:0018078 soft tissue sarcoma NCIT:C115292 MONDO:equivalentTo Localized Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soft tissue sarcoma +MONDO:0018078 soft tissue sarcoma NCIT:C115292 MONDO:equivalentTo Localized Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym soft tissue sarcoma +MONDO:0018078 soft tissue sarcoma NCIT:C7707 MONDO:equivalentTo Adult Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soft tissue sarcoma +MONDO:0018078 soft tissue sarcoma NCIT:C7707 MONDO:equivalentTo Adult Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym soft tissue sarcoma +MONDO:0018078 soft tissue sarcoma NCIT:C7715 MONDO:equivalentTo Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soft tissue sarcoma +MONDO:0018078 soft tissue sarcoma NCIT:C7715 MONDO:equivalentTo Childhood Soft Tissue Sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym soft tissue sarcoma +MONDO:0018171 malignant germ cell tumor of ovary NCIT:C68629 MONDO:equivalentTo Childhood Malignant Ovarian Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant ovarian germ cell tumor +MONDO:0018177 glioblastoma NCIT:C39750 MONDO:equivalentTo Glioblastoma, IDH-Wildtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary glioblastoma multiforme +MONDO:0018177 glioblastoma NCIT:C5097 MONDO:equivalentTo Brain Stem Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma multiforme +MONDO:0018177 glioblastoma NCIT:C5136 MONDO:equivalentTo Childhood Glioblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma +MONDO:0018177 glioblastoma NCIT:C5136 MONDO:equivalentTo Childhood Glioblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glioblastoma +MONDO:0018369 immature ovarian teratoma NCIT:C39995 MONDO:equivalentTo Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant ovarian teratoma MONDO:0018369 immature ovarian teratoma NCIT:C39995 MONDO:equivalentTo Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma +MONDO:0018448 clear cell papillary renal cell carcinoma NCIT:C121955 MONDO:equivalentTo Clear Cell Papillary Renal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clear cell papillary renal cell carcinoma +MONDO:0018473 hyperlipoproteinemia type 3 NCIT:C34710 MONDO:equivalentTo Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym remnant hyperlipidemia MONDO:0018473 hyperlipoproteinemia type 3 NCIT:C34710 MONDO:equivalentTo Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia +MONDO:0018535 biliary cystadenocarcinoma NCIT:C96947 MONDO:equivalentTo Intrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrahepatic bile duct cystadenocarcinoma +MONDO:0018544 adrenoleukodystrophy NCIT:C84670 MONDO:equivalentTo Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cerebral sclerosis of schilder +MONDO:0018544 adrenoleukodystrophy NCIT:C84670 MONDO:equivalentTo Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cerebral sclerosis of schilder +MONDO:0018744 oligodendroglial tumor NCIT:C68691 MONDO:equivalentTo Adult Oligodendroglial Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodendroglial tumor +MONDO:0018744 oligodendroglial tumor NCIT:C68691 MONDO:equivalentTo Adult Oligodendroglial Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglial tumor +MONDO:0018761 SMARCA4-deficient sarcoma of thorax NCIT:C183115 MONDO:equivalentTo Thoracic SMARCA4-Deficient Undifferentiated Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smarca4-deficient thoracic sarcoma +MONDO:0018871 acute myelomonocytic leukemia M4 NCIT:C7962 MONDO:equivalentTo Adult Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myelomonocytic leukemia +MONDO:0018871 acute myelomonocytic leukemia M4 NCIT:C7970 MONDO:equivalentTo Childhood Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myelomonocytic leukemia +MONDO:0018872 acute megakaryoblastic leukemia NCIT:C7965 MONDO:equivalentTo Adult Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute megakaryoblastic leukemia +MONDO:0018872 acute megakaryoblastic leukemia NCIT:C7965 MONDO:equivalentTo Adult Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute megakaryoblastic leukemia +MONDO:0018872 acute megakaryoblastic leukemia NCIT:C7972 MONDO:equivalentTo Childhood Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute megakaryoblastic leukemia +MONDO:0018872 acute megakaryoblastic leukemia NCIT:C7972 MONDO:equivalentTo Childhood Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute megakaryoblastic leukemia +MONDO:0018874 acute myeloid leukemia NCIT:C9154 MONDO:equivalentTo Adult Acute Myeloid Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloid leukemia (aml) +MONDO:0018881 myelodysplastic syndrome NCIT:C115153 MONDO:equivalentTo Adult Myelodysplastic Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelodysplastic syndrome +MONDO:0018881 myelodysplastic syndrome NCIT:C115153 MONDO:equivalentTo Adult Myelodysplastic Syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelodysplastic syndrome +MONDO:0018881 myelodysplastic syndrome NCIT:C8648 MONDO:equivalentTo Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelodysplastic syndrome, unclassifiable MONDO:0018881 myelodysplastic syndrome NCIT:C8648 MONDO:equivalentTo Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable +MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease NCIT:C7195 MONDO:equivalentTo Primary Cutaneous CD30-Positive T-Cell Lymphoproliferative Disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary cutaneous cd30+ t-cell lymphoproliferative disorder +MONDO:0018905 diffuse large B-cell lymphoma NCIT:C7615 MONDO:equivalentTo Adult Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse large b-cell lymphoma +MONDO:0018905 diffuse large B-cell lymphoma NCIT:C7615 MONDO:equivalentTo Adult Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse large b-cell lymphoma +MONDO:0018905 diffuse large B-cell lymphoma NCIT:C7616 MONDO:equivalentTo Childhood Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse large b-cell lymphoma +MONDO:0018905 diffuse large B-cell lymphoma NCIT:C7616 MONDO:equivalentTo Childhood Diffuse Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse large b-cell lymphoma +MONDO:0018907 craniopharyngioma NCIT:C4010 MONDO:equivalentTo Adult Craniopharyngioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym craniopharyngioma +MONDO:0018907 craniopharyngioma NCIT:C7816 MONDO:equivalentTo Childhood Craniopharyngioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym craniopharyngioma +MONDO:0018908 non-Hodgkin lymphoma NCIT:C7704 MONDO:equivalentTo Adult Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma +MONDO:0018908 non-Hodgkin lymphoma NCIT:C7704 MONDO:equivalentTo Adult Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma +MONDO:0018908 non-Hodgkin lymphoma NCIT:C7706 MONDO:equivalentTo Childhood Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma +MONDO:0018908 non-Hodgkin lymphoma NCIT:C7706 MONDO:equivalentTo Childhood Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma +MONDO:0018911 maturity-onset diabetes of the young NCIT:C91449 MONDO:equivalentTo Maturity Onset Diabetes of the Young Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maturity onset diabetes of the young +MONDO:0019086 carcinoma of esophagus NCIT:C118812 MONDO:equivalentTo Childhood Esophageal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal cancer +MONDO:0019087 cholangiocarcinoma NCIT:C8265 MONDO:equivalentTo Adult Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult primary cholangiocarcinoma +MONDO:0019087 cholangiocarcinoma NCIT:C8265 MONDO:equivalentTo Adult Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult primary cholangiocellular carcinoma +MONDO:0019171 familial long QT syndrome NCIT:C85049 MONDO:equivalentTo Long QT Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward syndrome +MONDO:0019210 cutaneous neuroendocrine carcinoma NCIT:C173385 MONDO:equivalentTo Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous neuroendocrine carcinoma +MONDO:0019210 cutaneous neuroendocrine carcinoma NCIT:C173385 MONDO:equivalentTo Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine carcinoma of skin +MONDO:0019210 cutaneous neuroendocrine carcinoma NCIT:C173385 MONDO:equivalentTo Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine carcinoma of the skin +MONDO:0019210 cutaneous neuroendocrine carcinoma NCIT:C173385 MONDO:equivalentTo Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trabecular skin carcinoma +MONDO:0019210 cutaneous neuroendocrine carcinoma NCIT:C173385 MONDO:equivalentTo Cutaneous Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cutaneous neuroendocrine carcinoma +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NCIT:C85861 MONDO:equivalentTo Neuronal Ceroid Lipofuscinosis Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santavuori disorder +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NCIT:C85861 MONDO:equivalentTo Neuronal Ceroid Lipofuscinosis Type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile neuronal ceroid lipofuscinosis +MONDO:0019373 desmoplastic small round cell tumor NCIT:C27372 MONDO:equivalentTo Childhood Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic small round cell tumor +MONDO:0019373 desmoplastic small round cell tumor NCIT:C27372 MONDO:equivalentTo Childhood Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic small round cell tumor +MONDO:0019373 desmoplastic small round cell tumor NCIT:C27373 MONDO:equivalentTo Adult Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic small round cell tumor +MONDO:0019373 desmoplastic small round cell tumor NCIT:C27373 MONDO:equivalentTo Adult Desmoplastic Small Round Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic small round cell tumor +MONDO:0019438 AL amyloidosis NCIT:C3819 MONDO:equivalentTo Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary amyloidosis MONDO:0019438 AL amyloidosis NCIT:C3819 MONDO:equivalentTo Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary amyloidosis +MONDO:0019458 acute basophilic leukemia NCIT:C7964 MONDO:equivalentTo Adult Acute Basophilic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute basophilic leukemia +MONDO:0019458 acute basophilic leukemia NCIT:C7971 MONDO:equivalentTo Childhood Acute Basophilic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute basophilic leukemia +MONDO:0019468 T-cell prolymphocytic leukemia NCIT:C70649 MONDO:equivalentTo T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cll, t-cell +MONDO:0019468 T-cell prolymphocytic leukemia NCIT:C70649 MONDO:equivalentTo T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t cell chronic lymphocytic leukemia +MONDO:0019468 T-cell prolymphocytic leukemia NCIT:C70649 MONDO:equivalentTo T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t cell cll +MONDO:0019468 T-cell prolymphocytic leukemia NCIT:C70649 MONDO:equivalentTo T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-cell chronic lymphocytic leukemia +MONDO:0019468 T-cell prolymphocytic leukemia NCIT:C70649 MONDO:equivalentTo T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-cell cll MONDO:0019468 T-cell prolymphocytic leukemia NCIT:C70649 MONDO:equivalentTo T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t-cell chronic lymphocytic leukemia +MONDO:0019472 extranodal nasal NK/T cell lymphoma NCIT:C115154 MONDO:equivalentTo Adult Nasal Type Extranodal NK/T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasal type extranodal nk/t-cell lymphoma +MONDO:0019472 extranodal nasal NK/T cell lymphoma NCIT:C68692 MONDO:equivalentTo Childhood Nasal Type Extranodal NK/T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasal type extranodal nk/t-cell lymphoma +MONDO:0019473 enteropathy-associated T-cell lymphoma NCIT:C150495 MONDO:equivalentTo Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal t-cell lymphoma MONDO:0019473 enteropathy-associated T-cell lymphoma NCIT:C150495 MONDO:equivalentTo Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal t-cell lymphoma +MONDO:0019496 neuroendocrine neoplasm NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apudoma +MONDO:0019496 neuroendocrine neoplasm NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumor MONDO:0019496 neuroendocrine neoplasm NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor +MONDO:0019499 Turner syndrome NCIT:C85210 MONDO:equivalentTo XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xo syndrome +MONDO:0019499 Turner syndrome NCIT:C85210 MONDO:equivalentTo XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xo syndrome +MONDO:0019635 idiopathic achalasia NCIT:C84699 MONDO:equivalentTo Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achalasia cardia +MONDO:0019781 astrocytoma (excluding glioblastoma) NCIT:C124275 MONDO:equivalentTo Childhood Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytoma +MONDO:0019960 VIPoma NCIT:C65189 MONDO:equivalentTo Malignant Vipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vipoma, malignant +MONDO:0020083 immunodeficiency-associated lymphoproliferative disease NCIT:C150672 MONDO:equivalentTo Immunodeficiency-Related Lymphoproliferative Disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency-associated lymphoproliferative disorder +MONDO:0020321 acute undifferentiated leukemia NCIT:C126110 MONDO:equivalentTo Infant Acute Undifferentiated Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute undifferentiated leukemia +MONDO:0020321 acute undifferentiated leukemia NCIT:C126110 MONDO:equivalentTo Infant Acute Undifferentiated Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute undifferentiated leukemia +MONDO:0020322 acute biphenotypic leukemia NCIT:C126111 MONDO:equivalentTo Infant Acute Biphenotypic Leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute biphenotypic leukemia +MONDO:0020325 anaplastic large cell lymphoma NCIT:C27367 MONDO:equivalentTo Adult Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic large cell lymphoma +MONDO:0020325 anaplastic large cell lymphoma NCIT:C27367 MONDO:equivalentTo Adult Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic large cell lymphoma +MONDO:0020325 anaplastic large cell lymphoma NCIT:C5636 MONDO:equivalentTo Childhood Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic large cell lymphoma +MONDO:0020325 anaplastic large cell lymphoma NCIT:C5636 MONDO:equivalentTo Childhood Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anaplastic large cell lymphoma +MONDO:0020541 maligant granulosa cell tumor of ovary NCIT:C4205 MONDO:equivalentTo Malignant Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant granulosa cell neoplasm +MONDO:0020541 maligant granulosa cell tumor of ovary NCIT:C7288 MONDO:equivalentTo Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult ovarian granulosa cell tumor MONDO:0020541 maligant granulosa cell tumor of ovary NCIT:C7288 MONDO:equivalentTo Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult ovarian granulosa cell tumor +MONDO:0020560 atypical teratoid rhabdoid tumor NCIT:C68634 MONDO:equivalentTo Childhood Atypical Teratoid/Rhabdoid Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical teratoid/rhabdoid tumor +MONDO:0020580 germinomatous germ cell tumor NCIT:C123838 MONDO:equivalentTo Childhood Germinomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germinomatous germ cell tumor +MONDO:0020580 germinomatous germ cell tumor NCIT:C123838 MONDO:equivalentTo Childhood Germinomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym germinomatous germ cell tumor +MONDO:0020634 grade III meningioma NCIT:C71303 MONDO:equivalentTo Childhood Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade iii meningioma +MONDO:0020634 grade III meningioma NCIT:C71303 MONDO:equivalentTo Childhood Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii meningioma +MONDO:0020634 grade III meningioma NCIT:C71305 MONDO:equivalentTo Adult Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade iii meningioma +MONDO:0020634 grade III meningioma NCIT:C71305 MONDO:equivalentTo Adult Grade 3 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii meningioma +MONDO:0020635 anaplastic meningioma NCIT:C8275 MONDO:equivalentTo Adult Anaplastic (Malignant) Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anaplastic (malignant) meningioma +MONDO:0020638 superficial spreading melanoma NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous superficial spreading melanoma +MONDO:0020638 superficial spreading melanoma NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid melanoma +MONDO:0020638 superficial spreading melanoma NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial spreading cutaneous (skin) melanoma +MONDO:0020638 superficial spreading melanoma NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial spreading melanoma +MONDO:0020638 superficial spreading melanoma NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial spreading melanoma of the skin +MONDO:0020638 superficial spreading melanoma NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym superficial spreading melanoma +MONDO:0020720 X-linked hypophosphatemic rickets NCIT:C85234 MONDO:equivalentTo X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets +MONDO:0020720 X-linked hypophosphatemic rickets NCIT:C85234 MONDO:equivalentTo X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets +MONDO:0020761 Bowen disease of the skin NCIT:C43598 MONDO:equivalentTo Perianal Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bowen disorder +MONDO:0021066 urinary system neoplasm NCIT:C192666 MONDO:equivalentTo Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urinary tract neoplasm MONDO:0021066 urinary system neoplasm NCIT:C192666 MONDO:equivalentTo Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urinary tract neoplasm +MONDO:0021137 not rare NCIT:C43461 MONDO:equivalentTo Common semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common +MONDO:0021137 not rare NCIT:C43461 MONDO:equivalentTo Common semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common +MONDO:0021211 brain neoplasm NCIT:C7703 MONDO:equivalentTo Childhood Brain Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain neoplasm +MONDO:0021211 brain neoplasm NCIT:C7710 MONDO:equivalentTo Adult Brain Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain neoplasm +MONDO:0021234 spinal cord neoplasm NCIT:C71024 MONDO:equivalentTo Adult Spinal Cord Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal cord tumor +MONDO:0021284 carcinoma in situ of ureter NCIT:C140363 MONDO:equivalentTo Stage 0is Ureter Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is ureter cancer +MONDO:0021284 carcinoma in situ of ureter NCIT:C6149 MONDO:equivalentTo Stage 0 Ureter Cancer AJCC v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 ureter carcinoma +MONDO:0021285 carcinoma in situ of urethra NCIT:C140459 MONDO:equivalentTo Stage 0is Urethral Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is urethral cancer +MONDO:0021285 carcinoma in situ of urethra NCIT:C6195 MONDO:equivalentTo Stage 0 Urethral Cancer AJCC v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 urethra carcinoma +MONDO:0021290 carcinoma in situ of appendix NCIT:C134118 MONDO:equivalentTo Stage 0 Appendix Carcinoma AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 appendix cancer +MONDO:0021296 carcinoma in situ of renal pelvis NCIT:C140362 MONDO:equivalentTo Stage 0is Renal Pelvis Cancer AJCC v8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0is renal pelvis cancer +MONDO:0021656 nongerminomatous germ cell tumor NCIT:C123841 MONDO:equivalentTo Childhood Nongerminomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nongerminomatous germ cell tumor +MONDO:0021656 nongerminomatous germ cell tumor NCIT:C123841 MONDO:equivalentTo Childhood Nongerminomatous Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nongerminomatous germ cell tumor +MONDO:0021659 combined carcinoid and adenocarcinoma NCIT:C201135 MONDO:equivalentTo Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoid tumor +MONDO:0021659 combined carcinoid and adenocarcinoma NCIT:C201135 MONDO:equivalentTo Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym composite carcinoid +MONDO:0021659 combined carcinoid and adenocarcinoma NCIT:C201135 MONDO:equivalentTo Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym composite carcinoid tumor +MONDO:0022096 pyogenic granuloma NCIT:C3480 MONDO:equivalentTo Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyogenic granuloma +MONDO:0023161 viral myocarditis NCIT:C91441 MONDO:equivalentTo Viral Myocarditis Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viral myocarditis +MONDO:0023161 viral myocarditis NCIT:C91441 MONDO:equivalentTo Viral Myocarditis Pathway semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym viral myocarditis +MONDO:0023283 ovarian granulosa cell tumor NCIT:C7288 MONDO:equivalentTo Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian granulosa cell tumor +MONDO:0023283 ovarian granulosa cell tumor NCIT:C7288 MONDO:equivalentTo Adult Ovarian Granulosa Cell Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian granulosa cell tumor +MONDO:0024491 tumor grade 1, general grading system NCIT:C3465 MONDO:equivalentTo Grade 1 Follicular Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade type 1 +MONDO:0024492 tumor grade 2, general grading system NCIT:C8968 MONDO:equivalentTo Grade 2 Follicular Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade type 2 +MONDO:0024493 tumor grade 3, general grading system NCIT:C3460 MONDO:equivalentTo Grade 3 Follicular Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade type 3 +MONDO:0024493 tumor grade 3, general grading system NCIT:C42047 MONDO:equivalentTo Poorly Differentiated Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly differentiated +MONDO:0024494 tumor grade 4, general grading system NCIT:C42046 MONDO:equivalentTo Undifferentiated Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated +MONDO:0024503 digestive system neuroendocrine neoplasm NCIT:C7709 MONDO:equivalentTo Digestive System Neuroendocrine Tumor G1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoid tumor of digestive system +MONDO:0024890 pineal parenchymal cell neoplasm NCIT:C115196 MONDO:equivalentTo Childhood Pineal Parenchymal Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pineal parenchymal cell neoplasm +MONDO:0024890 pineal parenchymal cell neoplasm NCIT:C115196 MONDO:equivalentTo Childhood Pineal Parenchymal Cell Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pineal parenchymal cell neoplasm +MONDO:0027772 lung colloid adenocarcinoma NCIT:C201978 MONDO:equivalentTo Pulmonary Mucinous Cystic Tumor of Borderline Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lung mucinous cystic tumor of borderline malignancy +MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) NCIT:C82192 MONDO:equivalentTo Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mpal with t(9;22)(q34.1;q11.2); bcr-abl1 +MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy NCIT:C80345 MONDO:equivalentTo Hypodiploid B Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodiploid all +MONDO:0042487 uterine cervix carcinoma in situ NCIT:C89550 MONDO:equivalentTo Stage 0 Cervical Cancer AJCC v7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stage type 0 cervical cancer +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma NCIT:C8060 MONDO:equivalentTo Childhood Nodular Lymphocyte Predominant B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular lymphocyte predominant hodgkin lymphoma +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma NCIT:C8060 MONDO:equivalentTo Childhood Nodular Lymphocyte Predominant B-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular lymphocyte predominant hodgkin lymphoma +MONDO:0044786 solid pseudopapillary neoplasm of the pancreas NCIT:C201136 MONDO:equivalentTo Solid Pseudopapillary Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frantz tumor +MONDO:0044881 hematopoietic and lymphoid cell neoplasm NCIT:C9431 MONDO:equivalentTo Childhood Hematopoietic and Lymphoid Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hematopoietic neoplasm +MONDO:0044917 T-lymphoblastic lymphoma NCIT:C7226 MONDO:equivalentTo Adult T Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t lymphoblastic lymphoma +MONDO:0045019 lactation disease NCIT:C79606 MONDO:equivalentTo Lactation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactation disorder +MONDO:0045056 grade II meningioma NCIT:C71301 MONDO:equivalentTo Childhood Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade ii meningioma +MONDO:0045056 grade II meningioma NCIT:C71301 MONDO:equivalentTo Childhood Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade ii meningioma +MONDO:0045056 grade II meningioma NCIT:C71304 MONDO:equivalentTo Adult Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grade ii meningioma +MONDO:0045056 grade II meningioma NCIT:C71304 MONDO:equivalentTo Adult Grade 2 Meningioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade ii meningioma +MONDO:0056798 disorder of appendix NCIT:C173799 MONDO:equivalentTo Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym appendix disorder MONDO:0056798 disorder of appendix NCIT:C173799 MONDO:equivalentTo Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label appendix disorder +MONDO:0100063 Pericytoma with t(7;12) NCIT:C202896 MONDO:equivalentTo GLI1-Altered Soft Tissue Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pericytoma with t(7;12) +MONDO:0600025 hydrosalpinx NCIT:C78293 MONDO:equivalentTo Fallopian Tube Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fallopian tube obstruction +MONDO:0600025 hydrosalpinx NCIT:C78293 MONDO:equivalentTo Fallopian Tube Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fallopian tube obstruction +MONDO:0700219 neoplastic meningitis NCIT:C27383 MONDO:equivalentTo Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningeal carcinomatosis MONDO:0700219 neoplastic meningitis NCIT:C27383 MONDO:equivalentTo Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis +MONDO:0800385 iron poisoning NCIT:C78393 MONDO:equivalentTo Iron Overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iron overload +MONDO:0800385 iron poisoning NCIT:C78393 MONDO:equivalentTo Iron Overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label iron overload +MONDO:0850101 spitzoid melanoma NCIT:C165497 MONDO:equivalentTo Spitz Melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spitzoid melanoma +MONDO:0850110 melanoma in congenital melanocytic nevus NCIT:C48613 MONDO:equivalentTo Melanoma Arising in Congenital Melanocytic Nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma in congenital melanocytic nevus +MONDO:0850162 B-lymphoblastic leukemia/lymphoma with IAMP21 NCIT:C130039 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym b-lymphoblastic leukemia/lymphoma with iamp21 +MONDO:0850338 spinal ependymoma, MYCN-amplified NCIT:C186494 MONDO:equivalentTo Spinal Cord Ependymoma, MYCN Amplified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinal ependymoma, mycn-amplified +MONDO:0858916 pituitary blastoma NCIT:C155304 MONDO:equivalentTo Pituitary Gland Blastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary blastoma +MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype NCIT:C185467 MONDO:equivalentTo Diffuse Pediatric-Type High Grade Glioma, H3-Wildtype and IDH-Wildtype semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype +MONDO:0858957 multinodular and vacuolating neuronal tumor NCIT:C129427 MONDO:equivalentTo Multinodular and Vacuolated Neuronal Tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multinodular and vacuolating neuronal tumor +MONDO:0858958 high-grade astrocytoma with piloid features NCIT:C185879 MONDO:equivalentTo High Grade Astrocytoma with Piloid Features semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym high-grade astrocytoma with piloid features +MONDO:0858997 cancer of unknown primary site NCIT:C8566 MONDO:equivalentTo Metastatic Malignant Neoplasm of Unknown Primary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cancer of unknown primary site +MONDO:0859591 childhood low-grade glioma NCIT:C202299 MONDO:equivalentTo Childhood Low Grade Glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood low-grade glioma +MONDO:0859598 erythroleukemia NCIT:C68694 MONDO:equivalentTo Adult Erythroleukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia +MONDO:0859749 grade III lymphomatoid granulomatosis NCIT:C115150 MONDO:equivalentTo Adult Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii lymphomatoid granulomatosis +MONDO:0859749 grade III lymphomatoid granulomatosis NCIT:C115204 MONDO:equivalentTo Childhood Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym grade iii lymphomatoid granulomatosis +MONDO:0956985 lipofibromatosis-like neural tumor NCIT:C178426 MONDO:equivalentTo NTRK-Rearranged Spindle Cell Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipofibromatosis-like neural tumor +MONDO:0956992 posterior fossa group A ependymoma NCIT:C186450 MONDO:equivalentTo Posterior Fossa Ependymoma, Group A (PFA) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym posterior fossa group a ependymoma +MONDO:0971115 benign vascular tumor NCIT:C7389 MONDO:equivalentTo Benign Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign vascular tumor diff --git a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv index 66fc5974..e99b00d1 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv @@ -1,12 +1,22 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0001328 thyroid hormone resistance syndrome NCIT:C85191 MONDO:equivalentTo Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hormone resistance syndrome +MONDO:0001676 erythropoietic protoporphyria NCIT:C84698 MONDO:equivalentTo Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria +MONDO:0002688 duodenal obstruction NCIT:C79548 MONDO:equivalentTo Duodenal Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal obstruction MONDO:0003222 central nervous system melanocytic neoplasm NCIT:C4661 MONDO:equivalentTo Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm MONDO:0004520 intratubular embryonal carcinoma NCIT:C192096 MONDO:equivalentTo Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma +MONDO:0005881 oligohydramnios NCIT:C92839 MONDO:equivalentTo Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios +MONDO:0006460 thyroglossal duct cyst NCIT:C85189 MONDO:equivalentTo Thyroglossal Duct Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroglossal duct cyst +MONDO:0006810 intracranial hypertension NCIT:C84791 MONDO:equivalentTo Intracranial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intracranial hypertension +MONDO:0006947 renovascular hypertension NCIT:C85044 MONDO:equivalentTo Renovascular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension +MONDO:0007710 facial hemiatrophy NCIT:C84703 MONDO:equivalentTo Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy MONDO:0015301 primary cutaneous amyloidosis NCIT:C199391 MONDO:equivalentTo Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis MONDO:0015391 nasopharyngeal teratoma NCIT:C202982 MONDO:equivalentTo Nasopharyngeal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal teratoma MONDO:0017289 fetal lung interstitial tumor NCIT:C190105 MONDO:equivalentTo Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor MONDO:0019500 extragonadal teratoma NCIT:C189045 MONDO:equivalentTo Extragonadal Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal teratoma MONDO:0019964 thymic neuroendocrine tumor NCIT:C6430 MONDO:equivalentTo Thymic Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine tumor +MONDO:0021141 acquired NCIT:C85869 MONDO:equivalentTo Acquired semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired +MONDO:0034212 methotrexate toxicity NCIT:C81194 MONDO:equivalentTo Methotrexate Toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity MONDO:0850112 breast implant-associated anaplastic large cell lymphoma NCIT:C139012 MONDO:equivalentTo Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma MONDO:0850154 tongue carcinoma NCIT:C4824 MONDO:equivalentTo Tongue Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue carcinoma MONDO:0850267 childhood acute megakaryoblastic leukemia NCIT:C7972 MONDO:equivalentTo Childhood Acute Megakaryoblastic Leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood acute megakaryoblastic leukemia @@ -67,6 +77,10 @@ MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion NCIT:C178461 MONDO MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion NCIT:C178462 MONDO:equivalentTo Round Cell Sarcoma with FUS-NFATC2 Gene Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with fus-nfatc2 gene fusion MONDO:0958302 TFEB-rearranged renal cell carcinoma NCIT:C37210 MONDO:equivalentTo TFEB-Rearranged Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tfeb-rearranged renal cell carcinoma MONDO:0958303 childhood renal cell carcinoma with MiT translocations NCIT:C189242 MONDO:equivalentTo Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations +MONDO:0971033 intrathyroid thymic carcinoma NCIT:C46106 MONDO:equivalentTo Intrathyroid Thymic Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrathyroid thymic carcinoma +MONDO:0971034 thyroid gland cribriform morular carcinoma NCIT:C126408 MONDO:equivalentTo Thyroid Gland Cribriform Morular Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland cribriform morular carcinoma +MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma NCIT:C46104 MONDO:equivalentTo Thyroid Gland Mixed Medullary and Follicular Cell-Derived Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland mixed medullary and follicular cell-derived carcinoma +MONDO:0971036 thyroid gland mucinous carcinoma NCIT:C156267 MONDO:equivalentTo Thyroid Gland Mucinous Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid gland mucinous carcinoma MONDO:0971056 ocular surface squamous neoplasia NCIT:C176043 MONDO:equivalentTo Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia MONDO:0971143 pleural mesothelioma in situ NCIT:C183134 MONDO:equivalentTo Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ MONDO:0975754 pseudomyogenic hemangioendothelioma NCIT:C121668 MONDO:equivalentTo Pseudomyogenic Hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyogenic hemangioendothelioma diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv index 67c255c1..2d775b52 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv @@ -1,2 +1,4 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0002012 methylmalonic acidemia OMIMPS:251000 MONDO:equivalentTo Methylmalonic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria +MONDO:0002012 methylmalonic acidemia OMIMPS:251000 MONDO:equivalentTo Methylmalonic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methylmalonic aciduria diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 1094fdc1..108d9a84 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -2,12 +2,12 @@ "metrics": { "abox_axiom_count": 0, "abox_axiom_count_incl": 0, - "annotation_property_count": 27, - "annotation_property_count_incl": 27, - "axiom_count": 129444, - "axiom_count_incl": 129444, - "class_count": 13204, - "class_count_incl": 13204, + "annotation_property_count": 28, + "annotation_property_count_incl": 28, + "axiom_count": 133598, + "axiom_count_incl": 133598, + "class_count": 13230, + "class_count_incl": 13230, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "C", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 16297, - "logical_axiom_count_incl": 16297, + "logical_axiom_count": 16341, + "logical_axiom_count_incl": 16341, "obj_property_count": 0, "obj_property_count_incl": 0, - "ontology_anno_count": 11, + "ontology_anno_count": 10, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 13233, - "signature_entity_count_incl": 13233, + "signature_entity_count": 13260, + "signature_entity_count_incl": 13260, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 16297, - "tbox_axiom_count_incl": 16297, - "tboxrbox_axiom_count": 16297, - "tboxrbox_axiom_count_incl": 16297, + "tbox_axiom_count": 16341, + "tbox_axiom_count_incl": 16341, + "tboxrbox_axiom_count": 16341, + "tboxrbox_axiom_count_incl": 16341, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -67,24 +67,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 99916, - "SubAnnotationPropertyOf": 1, + "AnnotationAssertion": 103998, + "SubAnnotationPropertyOf": 2, "DisjointClasses": 26, - "Declaration": 13230, - "SubClassOf": 16271 + "Declaration": 13257, + "SubClassOf": 16315 }, "axiom_type_count_incl": { - "AnnotationAssertion": 99916, - "SubAnnotationPropertyOf": 1, + "AnnotationAssertion": 103998, + "SubAnnotationPropertyOf": 2, "DisjointClasses": 26, - "Declaration": 13230, - "SubClassOf": 16271 + "Declaration": 13257, + "SubClassOf": 16315 }, "class_expression_count": { - "Class": 45958 + "Class": 46072 }, "class_expression_count_incl": { - "Class": 45958 + "Class": 46072 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -99,6 +99,7 @@ "NCBITaxon": "http://purl.obolibrary.org/obo/NCBITaxon_", "TRANS": "http://purl.obolibrary.org/obo/TRANS_", "SYMP": "http://purl.obolibrary.org/obo/SYMP_", + "OMO": "http://purl.obolibrary.org/obo/OMO_", "dc11": "http://purl.org/dc/elements/1.1/", "rdf": "http://www.w3.org/1999/02/22-rdf-syntax-ns#", "IAO": "http://purl.obolibrary.org/obo/IAO_", @@ -110,19 +111,20 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 70396, + "oboInOwl": 78320, "owl": 2489, - "DOID": 44400, + "DOID": 44514, "HP": 114, - "skos": 6153, + "skos": 6203, "CL": 62, - "rdfs": 19907, + "rdfs": 19939, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, + "OMO": 2, "dc11": 2, - "rdf": 60, + "rdf": 61, "IAO": 2230, "CHEBI": 90, "UBERON": 410, @@ -132,19 +134,20 @@ "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 70396, + "oboInOwl": 78320, "owl": 2489, - "DOID": 44400, + "DOID": 44514, "HP": 114, - "skos": 6153, + "skos": 6203, "CL": 62, - "rdfs": 19907, + "rdfs": 19939, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, + "OMO": 2, "dc11": 2, - "rdf": 60, + "rdf": 61, "IAO": 2230, "CHEBI": 90, "UBERON": 410, @@ -156,7 +159,7 @@ "namespace_entity_count": { "oboInOwl": 12, "owl": 2, - "DOID": 11646, + "DOID": 11672, "HP": 114, "xsd": 1, "CL": 62, @@ -166,6 +169,7 @@ "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, + "OMO": 1, "dc11": 2, "rdf": 1, "CHEBI": 90, @@ -179,7 +183,7 @@ "namespace_entity_count_incl": { "oboInOwl": 12, "owl": 2, - "DOID": 11646, + "DOID": 11672, "HP": 114, "xsd": 1, "CL": 62, @@ -189,6 +193,7 @@ "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, + "OMO": 1, "dc11": 2, "rdf": 1, "CHEBI": 90, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 31736b9a..839b9485 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index a208ffb0..3610a366 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index b9e5e548..eeff433e 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index fedb0ee1..635919ae 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index f930b375..db14ccdc 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -4,8 +4,8 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 12, "annotation_property_count_incl": 12, - "axiom_count": 623839, - "axiom_count_incl": 623839, + "axiom_count": 1328208, + "axiom_count_incl": 1328208, "class_count": 15971, "class_count_incl": 15971, "dataproperty_count": 0, @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, @@ -69,7 +69,7 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 574182, + "AnnotationAssertion": 1278551, "EquivalentClasses": 6260, "DatatypeDefinition": 19, "AnnotationPropertyRangeOf": 1, @@ -77,7 +77,7 @@ "SubClassOf": 27376 }, "axiom_type_count_incl": { - "AnnotationAssertion": 574182, + "AnnotationAssertion": 1278551, "EquivalentClasses": 6260, "DatatypeDefinition": 19, "AnnotationPropertyRangeOf": 1, @@ -105,21 +105,21 @@ "namespace_axiom_count": { "prefix_unknown": 1, "NCIT": 91329, - "oboInOwl": 377857, + "oboInOwl": 935851, "owl": 5221, "rdf": 19, - "IAO": 1, - "rdfs": 191108, + "IAO": 146369, + "rdfs": 191115, "dc": 3 }, "namespace_axiom_count_incl": { "prefix_unknown": 1, "NCIT": 91329, - "oboInOwl": 377857, + "oboInOwl": 935851, "owl": 5221, "rdf": 19, - "IAO": 1, - "rdfs": 191108, + "IAO": 146369, + "rdfs": 191115, "dc": 3 }, "namespace_entity_count": { diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 37409279..bb76eea3 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -2,12 +2,12 @@ "metrics": { "abox_axiom_count": 0, "abox_axiom_count_incl": 0, - "annotation_property_count": 19, - "annotation_property_count_incl": 19, - "axiom_count": 355487, - "axiom_count_incl": 355487, - "class_count": 22957, - "class_count_incl": 22957, + "annotation_property_count": 20, + "annotation_property_count_incl": 20, + "axiom_count": 355637, + "axiom_count_incl": 355637, + "class_count": 22971, + "class_count_incl": 22971, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 26217, - "logical_axiom_count_incl": 26217, + "logical_axiom_count": 26237, + "logical_axiom_count_incl": 26237, "obj_property_count": 7, "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 22985, - "signature_entity_count_incl": 22985, + "signature_entity_count": 23000, + "signature_entity_count_incl": 23000, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 26217, - "tbox_axiom_count_incl": 26217, - "tboxrbox_axiom_count": 26217, - "tboxrbox_axiom_count_incl": 26217, + "tbox_axiom_count": 26237, + "tbox_axiom_count_incl": 26237, + "tboxrbox_axiom_count": 26237, + "tboxrbox_axiom_count_incl": 26237, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 306290, - "SubAnnotationPropertyOf": 1, - "Declaration": 22979, - "SubClassOf": 26217 + "AnnotationAssertion": 306404, + "SubAnnotationPropertyOf": 2, + "Declaration": 22994, + "SubClassOf": 26237 }, "axiom_type_count_incl": { - "AnnotationAssertion": 306290, - "SubAnnotationPropertyOf": 1, - "Declaration": 22979, - "SubClassOf": 26217 + "AnnotationAssertion": 306404, + "SubAnnotationPropertyOf": 2, + "Declaration": 22994, + "SubClassOf": 26237 }, "class_expression_count": { - "Class": 75381, - "ObjectSomeValuesFrom": 21262 + "Class": 75435, + "ObjectSomeValuesFrom": 21274 }, "class_expression_count_incl": { - "Class": 75381, - "ObjectSomeValuesFrom": 21262 + "Class": 75435, + "ObjectSomeValuesFrom": 21274 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -99,35 +99,35 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 98289, - "oboInOwl": 90191, - "MONDO": 19115, - "rdf": 21056, + "prefix_unknown": 98340, + "oboInOwl": 114912, + "MONDO": 19126, + "rdf": 21063, "owl": 1366, "IAO": 55207, - "skos": 82302, - "rdfs": 40172, - "biolink": 37003, - "CHR": 7585, - "RO": 21269, - "obo": 2343 + "skos": 82326, + "rdfs": 40195, + "biolink": 37028, + "CHR": 7588, + "RO": 21281, + "obo": 2348 }, "namespace_axiom_count_incl": { - "prefix_unknown": 98289, - "oboInOwl": 90191, - "MONDO": 19115, - "rdf": 21056, + "prefix_unknown": 98340, + "oboInOwl": 114912, + "MONDO": 19126, + "rdf": 21063, "owl": 1366, "IAO": 55207, - "skos": 82302, - "rdfs": 40172, - "biolink": 37003, - "CHR": 7585, - "RO": 21269, - "obo": 2343 + "skos": 82326, + "rdfs": 40195, + "biolink": 37028, + "CHR": 7588, + "RO": 21281, + "obo": 2348 }, "namespace_entity_count": { - "prefix_unknown": 21515, + "prefix_unknown": 21529, "oboInOwl": 4, "owl": 2, "xsd": 1, @@ -139,10 +139,10 @@ "IAO": 2, "biolink": 2, "RO": 7, - "obo": 2 + "obo": 3 }, "namespace_entity_count_incl": { - "prefix_unknown": 21515, + "prefix_unknown": 21529, "oboInOwl": 4, "owl": 2, "xsd": 1, @@ -154,7 +154,7 @@ "IAO": 2, "biolink": 2, "RO": 7, - "obo": 2 + "obo": 3 }, "owl2dl_profile_violation": {} } diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index cec03f32..cce29ee8 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-27/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 40bed93f..81df48f5 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -12,6 +12,7 @@ ### Standard constants ############# #################################### MAPPINGSDIR=../mappings +DOCS_DIR=../../docs SKIP_HUGE=false #################################### @@ -72,6 +73,7 @@ $(COMPONENTSDIR)/omim.owl: $(TMPDIR)/omim_relevant_signature.txt | component-dow --update ../sparql/fix-labels-with-brackets.ru \ --update ../sparql/fix_illegal_punning_omim.ru \ --update ../sparql/exact_syn_from_label.ru \ + --update ../sparql/convert-OMO_0003000-to-MONDO_ABBREVIATION.ru \ annotate --ontology-iri $(URIBASE)/mondo/sources/omim.owl --version-iri $(URIBASE)/mondo/sources/$(TODAY)/omim.owl -o $@; fi # todo: See #1 at top of file @@ -101,6 +103,9 @@ $(COMPONENTSDIR)/ncit.owl: $(TMPDIR)/ncit_relevant_signature.txt | component-dow --update ../sparql/rm_xref_by_prefix.ru \ --update ../sparql/exact_syn_from_label.ru \ remove -T $(TMPDIR)/ncit_relevant_signature.txt --select complement --select "classes individuals" --trim false \ + --drop-axiom-annotations NCIT:P378 \ + --drop-axiom-annotations NCIT:P383 \ + --drop-axiom-annotations NCIT:P384 \ remove -T config/properties.txt --select complement --select properties --trim true \ remove --term "http://purl.obolibrary.org/obo/NCIT_C179199" --axioms "equivalent" \ annotate --ontology-iri $(URIBASE)/mondo/sources/ncit.owl --version-iri $(URIBASE)/mondo/sources/$(TODAY)/ncit.owl -o $@; fi @@ -222,14 +227,16 @@ mappings: $(ALL_MAPPINGS) mapping-progress-report: unmapped-terms-tables unmapped-terms-docs .PHONY: unmapped-terms-docs -unmapped-terms-docs: $(foreach n,$(ALL_COMPONENT_IDS), reports/$(n)_unmapped_terms.tsv) +unmapped-terms-docs: docs/reports/unmapped.md + +# todo: ideally `unmapped_docs.py` would also take file path(s) as input args. Currently, running `unmapped_%.md` for any source will trigger this for all sources. +docs/reports/unmapped.md docs/reports/unmapped_%.md: $(foreach n,$(ALL_COMPONENT_IDS), reports/$(n)_unmapped_terms.tsv) python3 $(SCRIPTSDIR)/unmapped_docs.py .PHONY: unmapped-terms-tables unmapped-terms-tables: $(foreach n,$(ALL_COMPONENT_IDS), reports/$(n)_mapping_status.tsv) -$(REPORTDIR)/%_mapping_status.tsv $(REPORTDIR)/%_unmapped_terms.tsv: $(REPORTDIR)/%_term_exclusions.txt metadata/%.yml $(COMPONENTSDIR)/%.db - $(MAKE) up-to-date-mondo.sssom.tsv +$(REPORTDIR)/%_mapping_status.tsv $(REPORTDIR)/%_unmapped_terms.tsv: $(REPORTDIR)/%_term_exclusions.txt metadata/%.yml $(COMPONENTSDIR)/%.db $(TMPDIR)/mondo.sssom.tsv python3 $(SCRIPTSDIR)/unmapped_tables.py \ --exclusions-path $(REPORTDIR)/$*_term_exclusions.txt \ --mondo-mappings-path $(TMPDIR)/mondo.sssom.tsv \ @@ -268,8 +275,7 @@ $(REPORTDIR)/%_exclusion_reasons.ttl: component-download-%.owl $(REPORTDIR)/%_ex $(ROBOT) template --input $(TMPDIR)/component-download-$*.owl.owl --add-prefixes config/context.json --template $(REPORTDIR)/$*_exclusion_reasons.robot.template.tsv --output $(REPORTDIR)/$*_exclusion_reasons.ttl # todo: Should this also be a prereq $(TMPDIR)/component-download-$*.owl.owl? Perhaps worried about refreshing when not need to? But then we'd just use COMP=false if so? -$(REPORTDIR)/%_excluded_terms_in_mondo_xrefs.tsv $(REPORTDIR)/%_excluded_terms_in_mondo_xrefs_summary.tsv: metadata/%.yml $(REPORTDIR)/component_signature-%.tsv $(REPORTDIR)/mirror_signature-%.tsv - $(MAKE) up-to-date-mondo.sssom.tsv +$(REPORTDIR)/%_excluded_terms_in_mondo_xrefs.tsv $(REPORTDIR)/%_excluded_terms_in_mondo_xrefs_summary.tsv: metadata/%.yml $(REPORTDIR)/component_signature-%.tsv $(REPORTDIR)/mirror_signature-%.tsv $(TMPDIR)/mondo.sssom.tsv python3 $(RELEASEDIR)/src/analysis/problematic_exclusions.py \ --mondo-mappings-path $(TMPDIR)/mondo.sssom.tsv \ --onto-path $(TMPDIR)/component-download-$*.owl.owl \ @@ -280,7 +286,7 @@ $(REPORTDIR)/%_excluded_terms_in_mondo_xrefs.tsv $(REPORTDIR)/%_excluded_terms_i # Exclusions: all artefacts for single ontology .PHONY: exclusions-% -exclusions-%: reports/%_exclusion_reasons.ttl reports/%_excluded_terms_in_mondo_xrefs.tsv $(REPORTDIR)/%_term_exclusions.txt +exclusions-%: reports/%_exclusion_reasons.ttl reports/%_excluded_terms_in_mondo_xrefs.tsv $(REPORTDIR)/%_term_exclusions.txt @echo "$@ completed" exclusions-all: $(foreach n,$(ALL_COMPONENT_IDS), exclusions-$(n)) @@ -309,14 +315,14 @@ excluded-xrefs-in-mondo: $(REPORTDIR)/excluded_terms_in_mondo_xrefs.tsv ################### SOURCE_DOC_TEMPLATE=config/source_documentation.md.j2 SOURCE_METRICS_TEMPLATE=config/source_metrics.md.j2 -ALL_SOURCE_DOCS=$(foreach n,$(ALL_COMPONENT_IDS), ../../docs/sources/$(n).md) -ALL_METRICS_DOCS=$(foreach n,$(ALL_COMPONENT_IDS), ../../docs/metrics/$(n).md) +ALL_SOURCE_DOCS=$(foreach n,$(ALL_COMPONENT_IDS), $(DOCS_DIR)/sources/$(n).md) +ALL_METRICS_DOCS=$(foreach n,$(ALL_COMPONENT_IDS), $(DOCS_DIR)/metrics/$(n).md) ALL_DOCS=$(ALL_SOURCE_DOCS) $(ALL_METRICS_DOCS) -../../docs/sources/ ../../docs/metrics/ $(MAPPINGSDIR)/: +$(DOCS_DIR)/sources/ $(DOCS_DIR)/metrics/ $(MAPPINGSDIR)/: mkdir -p $@ -../../docs/sources/%.md: metadata/%.yml | ../../docs/sources/ +$(DOCS_DIR)/sources/%.md: metadata/%.yml | $(DOCS_DIR)/sources/ j2 "$(SOURCE_DOC_TEMPLATE)" $< > $@ PREFIXES_METRICS=--prefix 'OMIM: http://omim.org/entry/' \ @@ -329,7 +335,7 @@ metadata/%-metrics.json: $(COMPONENTSDIR)/%.owl $(ROBOT) measure $(PREFIXES_METRICS) -i $(COMPONENTSDIR)/$*.owl --format json --metrics extended --output $@ .PRECIOUS: metadata/%-metrics.json -../../docs/metrics/%.md: metadata/%-metrics.json | ../../docs/metrics/ +$(DOCS_DIR)/metrics/%.md: metadata/%-metrics.json | $(DOCS_DIR)/metrics/ j2 "$(SOURCE_METRICS_TEMPLATE)" metadata/$*-metrics.json > $@ .PHONY: j2 @@ -366,44 +372,43 @@ deploy-mondo-ingest: ls -alt $(DEPLOY_ASSETS_MONDO_INGEST) gh release create $(GHVERSION) --notes "TBD." --title "$(GHVERSION)" --draft $(DEPLOY_ASSETS_MONDO_INGEST) -USE_MONDO_RELEASE=false +# make function, not target! # Builds tmp/mondo/ and rebuilds mondo.owl and mondo.sssom.tsv, and stores hash of latest commit of mondo repo main branch in tmp/mondo_repo_built -tmp/mondo_repo_built: - if [ $(USE_MONDO_RELEASE) = true ]; then wget http://purl.obolibrary.org/obo/mondo.owl -O $@; else cd $(TMPDIR) &&\ - rm -rf ./mondo/ &&\ - git clone --depth 1 https://github.com/monarch-initiative/mondo &&\ - cd mondo/src/ontology &&\ - make mondo.owl mappings -B MIR=false IMP=false MIR=false &&\ - latest_hash=$$(git rev-parse origin/master) &&\ - echo "$$latest_hash" > $@ &&\ - cp $@ mappings/mondo.sssom.tsv mondo.owl ../../../; fi - -# Triggers a refresh of tmp/mondo/ and a rebuild of mondo.owl and mondo.sssom.tsv, only if mondo repo main branch has new commits -.PHONY: refresh-mondo-clone -refresh-mondo-clone: - @if [ ! -d tmp/mondo ]; then \ - $(MAKE) tmp/mondo_repo_built -B; \ + +define build_mondo + cd $(TMPDIR) && \ + rm -rf ./mondo/ && \ + git clone --depth 1 https://github.com/monarch-initiative/mondo && \ + cd mondo/src/ontology && \ + make mondo.owl mappings -B MIR=false IMP=false MIR=false \ + latest_hash=$$(git rev-parse origin/master) && \ + cd ../../../.. && \ + echo "$$latest_hash" > $(1) +endef + +tmp/mondo_repo_built: .FORCE + @if [ ! -f $@ ]; then \ + $(call build_mondo, $@); \ else \ - current_hash=$$(cat tmp/mondo_repo_built); \ + current_hash=$$(cat $@); \ cd tmp/mondo; \ git fetch origin; \ latest_hash=$$(git rev-parse origin/master); \ if [ ! "$$current_hash" = "$$latest_hash" ]; then \ cd .. && mv mondo mondo-bak && mv mondo_repo_built mondo_repo_built-bak; \ - cd .. && $(MAKE) tmp/mondo_repo_built -B; \ + cd .. && $(call build_mondo, $@); \ rm -rf tmp/mondo-bak tmp/mondo_repo_built-bak; \ fi; \ fi -.PHONY: up-to-date-mondo.sssom.tsv -up-to-date-mondo.sssom.tsv: refresh-mondo-clone +$(TMPDIR)/mondo.owl: tmp/mondo_repo_built + cp $(TMPDIR)/mondo/src/ontology/mondo.owl $@ -.PHONY: up-to-date-mondo.owl -up-to-date-mondo.owl: refresh-mondo-clone + $(TMPDIR)/mondo.sssom.tsv: tmp/mondo_repo_built + cp $(TMPDIR)/mondo/src/ontology/mappings/mondo.sssom.tsv $@ -reports/mirror_signature-mondo.tsv: - $(MAKE) up-to-date-mondo.owl +reports/mirror_signature-mondo.tsv: tmp/mondo.owl $(ROBOT) query -i tmp/mondo.owl --query ../sparql/classes.sparql $@ (head -n 1 $@ && tail -n +2 $@ | sort) > $@-temp mv $@-temp $@ @@ -435,8 +440,7 @@ signature_reports: $(ALL_MIRROR_SIGNTAURE_REPORTS) $(ALL_COMPONENT_SIGNTAURE_REP # - Doeesn't include: broad mappings # - Comes from make tmp/mondo.owl -tmp/mondo.sssom.ttl: - $(MAKE) up-to-date-mondo.sssom.tsv +tmp/mondo.sssom.ttl: $(TMPDIR)/mondo.sssom.tsv sssom convert $(TMPDIR)/mondo.sssom.tsv -O rdf -o $@ ALL_EXCLUSION_FILES= $(patsubst %, $(REPORTDIR)/%_term_exclusions.txt, $(ALL_COMPONENT_IDS)) @@ -454,8 +458,7 @@ tmp/mondo-ingest.owl: mondo-ingest.owl cp $< $@ # Merge Mondo, precise mappings and mondo-ingest into one coherent whole for the purpose of querying. -tmp/merged.owl: mondo-ingest.owl tmp/mondo.sssom.ttl - $(MAKE) up-to-date-mondo.owl +tmp/merged.owl: mondo-ingest.owl tmp/mondo.sssom.ttl tmp/mondo.owl $(ROBOT) merge -i tmp/mondo.owl -i mondo-ingest.owl -i tmp/mondo.sssom.ttl --add-prefixes config/context.json \ remove --term "http://purl.obolibrary.org/obo/mondo#ABBREVIATION" --preserve-structure false -o $@ @@ -463,7 +466,6 @@ tmp/merged.owl: mondo-ingest.owl tmp/mondo.sssom.ttl $(MAPPINGSDIR)/mondo-sources-all-lexical.sssom.tsv: $(SCRIPTSDIR)/match-mondo-sources-all-lexical.py tmp/merged.db $(MAPPINGSDIR)/rejected-mappings.tsv rm -f $(MAPPINGSDIR)/mondo-sources-all-lexical.sssom.tsv rm -f $(MAPPINGSDIR)/mondo-sources-all-lexical-2.sssom.tsv - $(MAKE) pip-bioregistry python $(SCRIPTSDIR)/match-mondo-sources-all-lexical.py run tmp/merged.db \ -c metadata/mondo.sssom.config.yml \ -r config/mondo-match-rules.yaml \ @@ -505,8 +507,7 @@ slurp/: mkdir -p $@ # min-id: the next available Mondo ID -slurp/%.tsv: $(COMPONENTSDIR)/%.owl $(REPORTDIR)/%_mapping_status.tsv $(REPORTDIR)/%_term_exclusions.txt $(REPORTDIR)/mirror_signature-mondo.tsv | slurp/ - $(MAKE) up-to-date-mondo.sssom.tsv +slurp/%.tsv: $(COMPONENTSDIR)/%.owl $(REPORTDIR)/%_mapping_status.tsv $(REPORTDIR)/%_term_exclusions.txt $(REPORTDIR)/mirror_signature-mondo.tsv $(TMPDIR)/mondo.sssom.tsv | slurp/ python3 $(SCRIPTSDIR)/migrate.py \ --ontology-path $(COMPONENTSDIR)/$*.owl \ --mondo-mappings-path $(TMPDIR)/mondo.sssom.tsv \ @@ -565,8 +566,7 @@ sync-subclassof: $(REPORTDIR)/sync-subClassOf.confirmed.tsv $(REPORTDIR)/sync-su .PHONY: sync-subclassof-% sync-subclassof-%: $(REPORTDIR)/%.subclass.confirmed.robot.tsv -$(TMPDIR)/sync-subClassOf.added.self-parentage.tsv: $(foreach n,$(ALL_COMPONENT_IDS), $(TMPDIR)/$(n).subclass.self-parentage.tsv) - $(MAKE) up-to-date-mondo.sssom.tsv +$(TMPDIR)/sync-subClassOf.added.self-parentage.tsv: $(foreach n,$(ALL_COMPONENT_IDS), $(TMPDIR)/$(n).subclass.self-parentage.tsv) $(TMPDIR)/mondo.sssom.tsv python3 $(SCRIPTSDIR)/sync_subclassof_collate_self_parentage.py \ --mondo-mappings-path $(TMPDIR)/mondo.sssom.tsv \ @@ -577,8 +577,7 @@ $(REPORTDIR)/sync-subClassOf.direct-in-mondo-only.tsv: $(foreach n,$(ALL_COMPONE $(REPORTDIR)/sync-subClassOf.confirmed.tsv: $(foreach n,$(ALL_COMPONENT_IDS), $(REPORTDIR)/$(n).subclass.confirmed.robot.tsv) awk '(NR == 1) || (NR == 2) || (FNR > 2)' $(REPORTDIR)/*.subclass.confirmed.robot.tsv > $@ -$(REPORTDIR)/%.subclass.confirmed.robot.tsv $(REPORTDIR)/%.subclass.added.robot.tsv $(REPORTDIR)/%.subclass.added-obsolete.robot.tsv $(REPORTDIR)/%.subclass.direct-in-mondo-only.tsv $(TMPDIR)/%.subclass.self-parentage.tsv: tmp/mondo-ingest.db tmp/mondo.db - $(MAKE) up-to-date-mondo.sssom.tsv +$(REPORTDIR)/%.subclass.confirmed.robot.tsv $(REPORTDIR)/%.subclass.added.robot.tsv $(REPORTDIR)/%.subclass.added-obsolete.robot.tsv $(REPORTDIR)/%.subclass.direct-in-mondo-only.tsv $(TMPDIR)/%.subclass.self-parentage.tsv: tmp/mondo-ingest.db tmp/mondo.db $(TMPDIR)/mondo.sssom.tsv python3 $(SCRIPTSDIR)/sync_subclassof.py \ --outpath-added $(REPORTDIR)/$*.subclass.added.robot.tsv \ --outpath-added-obsolete $(REPORTDIR)/$*.subclass.added-obsolete.robot.tsv \ @@ -629,9 +628,8 @@ tmp/ordo-subsets.tsv: $(MAKE) component-download-ordo.owl $(ROBOT) query -i $(TMPDIR)/component-download-ordo.owl.owl --query ../sparql/select-ordo-subsets.sparql $@ -$(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv: tmp/ordo-subsets.tsv +$(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv: tmp/ordo-subsets.tsv $(TMPDIR)/mondo.sssom.tsv mkdir -p $(EXTERNAL_CONTENT_DIR) - $(MAKE) up-to-date-mondo.sssom.tsv python3 $(SCRIPTSDIR)/ordo_subsets.py \ --mondo-mappings-path $(TMPDIR)/mondo.sssom.tsv \ --class-subsets-tsv-path tmp/ordo-subsets.tsv \ @@ -668,16 +666,17 @@ $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/mondo-nando.sss mapped-deprecated-terms: mapped-deprecated-terms-docs .PHONY: mapped-deprecated-terms-docs -mapped-deprecated-terms-docs: ../../docs/reports/mapped_deprecated.md +mapped-deprecated-terms-docs: $(DOCS_DIR)/reports/mapped_deprecated.md -../../docs/reports/mapped_deprecated.md: mapped-deprecated-terms-artefacts +# todo: ideally `deprecated_in_mondo.py` would also take file path(s) as input args. Currently, running `mapped_deprecated_%.md` for any source will trigger this for all sources. +$(DOCS_DIR)/reports/mapped_deprecated.md $(DOCS_DIR)/reports/mapped_deprecated_%.md: $(foreach n,$(ALL_COMPONENT_IDS), $(REPORTDIR)/$(n)_mapped_deprecated_terms.robot.template.tsv) +#$(DOCS_DIR)/reports/mapped_deprecated.md $(foreach n,$(ALL_COMPONENT_IDS), $(DOCS_DIR)/reports/mapped_deprecated_$(n).md): $(foreach n,$(ALL_COMPONENT_IDS), $(REPORTDIR)/$(n)_mapped_deprecated_terms.robot.template.tsv) python3 $(SCRIPTSDIR)/deprecated_in_mondo.py --docs .PHONY: mapped-deprecated-terms-artefacts mapped-deprecated-terms-artefacts: $(foreach n,$(ALL_COMPONENT_IDS), $(REPORTDIR)/$(n)_mapped_deprecated_terms.robot.template.tsv) -$(REPORTDIR)/%_mapped_deprecated_terms.robot.template.tsv: $(REPORTDIR)/%_mapping_status.tsv - $(MAKE) up-to-date-mondo.sssom.tsv +$(REPORTDIR)/%_mapped_deprecated_terms.robot.template.tsv: $(REPORTDIR)/%_mapping_status.tsv $(TMPDIR)/mondo.sssom.tsv python3 $(SCRIPTSDIR)/deprecated_in_mondo.py \ --mondo-mappings-path $(TMPDIR)/mondo.sssom.tsv \ --mapping-status-path $(REPORTDIR)/$*_mapping_status.tsv \ @@ -718,10 +717,6 @@ help: # Common dependencies @echo "refresh-mondo-clone" @echo "Triggers a refresh of tmp/mondo/ and a rebuild of mondo.owl and mondo.sssom.tsv, only if mondo repo main branch has new commits\n" - @echo "up-to-date-mondo.sssom.tsv" - @echo "Triggers a refresh mondo.sssom.tsv (via refresh-mondo-clone), only if mondo repo main branch has new commits\n" - @echo "up-to-date-mondo.owl" - @echo "Triggers a refresh mondo.owl (via refresh-mondo-clone), only if mondo repo main branch has new commits\n" # Slurp / migrate @echo "slurp/%.tsv and slurp-%" @echo "For a given ontology, determine all slurpable / migratable terms. That is, terms that are candidates for integration into Mondo.\n" diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index d41d794e..161cfcfd 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -1765,6 +1765,17 @@ + + + + + + + + + + + @@ -2349,6 +2360,21 @@ + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 3863e67c..a9af7a1b 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -797,7 +797,6 @@ - @@ -2195,6 +2194,7 @@ + @@ -2776,6 +2776,7 @@ + @@ -15142,6 +15143,7 @@ + @@ -15317,6 +15319,7 @@ + @@ -19151,6 +19154,7 @@ + @@ -21316,6 +21320,13 @@ + + + + + + + @@ -21608,6 +21619,7 @@ + @@ -21631,6 +21643,7 @@ + @@ -22383,6 +22396,7 @@ + diff --git a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv index 6511c1dc..83b7f4c9 100644 --- a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv @@ -8,6 +8,7 @@ MONDO:0000365 primary congenital glaucoma MONDO:0000839 DOID:0050593 DOID:008001 MONDO:0000425 X-linked disease MONDO:0000275 DOID:0050735 DOID:0050177 obsolete monogenic disease MONDO:0000428 Y-linked disease MONDO:0000275 DOID:0050738 DOID:0050177 obsolete monogenic disease MONDO:0000429 autosomal genetic disease MONDO:0000275 DOID:0050739 DOID:0050177 obsolete monogenic disease +MONDO:0000474 pericardium disorder MONDO:0000651 DOID:0050829 DOID:0060118 obsolete thoracic disorder MONDO:0000587 autoimmune disease of ear, nose and throat MONDO:0005128 DOID:0060030 DOID:0050155 obsolete sensory system disease MONDO:0000601 obsolete autoimmune disorder of urogenital tract MONDO:0007179 DOID:0060049 DOID:417 autoimmune disease MONDO:0000606 obsolete gluten allergy MONDO:0700226 DOID:0060057 DOID:3044 food allergy @@ -58,6 +59,7 @@ MONDO:0000824 congenital diarrhea MONDO:0000839 DOID:0060774 DOID:0080015 obsole MONDO:0000834 obsolete bone deterioration disease MONDO:0000836 DOID:0080007 DOID:0080010 disease of bone structure MONDO:0000839 obsolete congenital abnormality MONDO:0000001 DOID:0080015 DOID:4 disease MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 MONDO:0015626 DOID:0080069 DOID:10595 Charcot-Marie-Tooth disease +MONDO:0000866 obsolete hereditary myoglobinuria MONDO:0005336 DOID:0080108 DOID:423 myopathy MONDO:0000890 Zika virus congenital syndrome MONDO:0000839 DOID:0080180 DOID:0080015 obsolete congenital abnormality MONDO:0000911 obsolete dilated cardiomyopathy 1T MONDO:0000275 DOID:0110452 DOID:0050177 obsolete monogenic disease MONDO:0000911 obsolete dilated cardiomyopathy 1T MONDO:0005021 DOID:0110452 DOID:12930 dilated cardiomyopathy @@ -122,7 +124,7 @@ MONDO:0002599 teratocarcinoma MONDO:0002510 DOID:3305 DOID:3095 obsolete germ ce MONDO:0002601 teratoma MONDO:0002510 DOID:3307 DOID:3095 obsolete germ cell and embryonal cancer MONDO:0002604 pericytic neoplasm MONDO:0002176 DOID:3316 DOID:201 obsolete connective tissue cancer MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone MONDO:0002176 DOID:3352 DOID:201 obsolete connective tissue cancer -MONDO:0002657 breast disorder MONDO:0000651 DOID:3463 DOID:0060118 obsolete thoracic disorder +MONDO:0002657 breast disorder MONDO:0021199 DOID:3463 DOID:7 obsolete disease by anatomical system MONDO:0002872 trophoblastic neoplasm MONDO:0002510 DOID:4085 DOID:3095 obsolete germ cell and embryonal cancer MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor MONDO:0000385 DOID:4148 DOID:0050624 benign digestive system neoplasm MONDO:0002921 congenital structural myopathy MONDO:0000839 DOID:422 DOID:0080015 obsolete congenital abnormality @@ -164,6 +166,7 @@ MONDO:0005129 cataract MONDO:0000275 DOID:83 DOID:0050177 obsolete monogenic dis MONDO:0005151 endocrine system disorder MONDO:0021199 DOID:28 DOID:7 obsolete disease by anatomical system MONDO:0005164 fibrosarcoma MONDO:0002176 DOID:3355 DOID:201 obsolete connective tissue cancer MONDO:0005190 obsolete macroglobulinemia MONDO:0002273 DOID:9080 DOID:2345 plasma protein metabolism disease +MONDO:0005267 heart disorder MONDO:0000651 DOID:114 DOID:0060118 obsolete thoracic disorder MONDO:0005308 ciliopathy MONDO:0000275 DOID:0060340 DOID:0050177 obsolete monogenic disease MONDO:0005328 eye disorder MONDO:0005128 DOID:5614 DOID:0050155 obsolete sensory system disease MONDO:0005340 alopecia areata MONDO:0017841 DOID:986 DOID:0060039 obsolete autoimmune disease with skin involvement diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 49ec35a0..96b86f7e 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -260,6 +260,7 @@ MONDO:0002553 cerebellopontine angle tumor MONDO:0002912 DOID:3200 DOID:4203 bra MONDO:0002563 jejunal somatostatinoma MONDO:0006815 DOID:3216 DOID:13499 jejunal cancer MONDO:0002572 aspiration pneumonitis MONDO:0005249 DOID:3240 DOID:552 pneumonia MONDO:0002586 thymus cancer MONDO:0000612 DOID:3277 DOID:0060073 lymphatic system cancer +MONDO:0002586 thymus cancer MONDO:0003274 DOID:3277 DOID:5093 thoracic cancer MONDO:0002597 notochordal tumor MONDO:0002129 DOID:3303 DOID:184 bone cancer MONDO:0002603 angiomyolipoma MONDO:0005165 DOID:3314 DOID:0060084 benign neoplasm MONDO:0002604 pericytic neoplasm MONDO:0002095 DOID:3316 DOID:175 vascular cancer @@ -526,6 +527,7 @@ MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor MONDO:0000920 DOID MONDO:0004427 supraglottis neoplasm MONDO:0002354 DOID:8002 DOID:2598 benign laryngeal neoplasm MONDO:0004428 alveoli adenoma MONDO:0002807 DOID:8003 DOID:3906 bronchial neoplasm MONDO:0004432 mature pericardial teratoma MONDO:0000629 DOID:8012 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0004432 mature pericardial teratoma MONDO:0000634 DOID:8012 DOID:0060097 thoracic benign neoplasm MONDO:0004440 pineal region meningioma MONDO:0003249 DOID:8031 DOID:5032 pineal gland cancer MONDO:0004466 neuronitis MONDO:0002602 DOID:8117 DOID:331 central nervous system disorder MONDO:0004482 fibroosseous pseudotumor of the digits MONDO:0000631 DOID:8153 DOID:0060094 bone benign neoplasm @@ -2763,7 +2765,7 @@ MONDO:0013801 developmental and epileptic encephalopathy, 13 MONDO:0000426 DOID: MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0006025 DOID:0050883 DOID:0050737 autosomal recessive disease MONDO:0013805 intellectual disability, autosomal dominant 13 MONDO:0015802 DOID:0070043 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0013807 congenital stationary night blindness 1E MONDO:0006025 DOID:0110869 DOID:0050737 autosomal recessive disease -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0006025 DOID:0070264 DOID:0050737 autosomal recessive disease +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0006025 DOID:0070264 DOID:0050737 autosomal recessive disease MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0006025 DOID:0111472 DOID:0050737 autosomal recessive disease MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0000426 DOID:0081113 DOID:0050736 autosomal dominant disease MONDO:0013813 dystonia 21 MONDO:0000426 DOID:0090046 DOID:0050736 autosomal dominant disease @@ -3701,6 +3703,7 @@ MONDO:0024568 infantile liver failure syndrome 1 MONDO:0006025 DOID:0080717 DOID MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0006025 DOID:0080197 DOID:0050737 autosomal recessive disease MONDO:0024677 pancreatic insulinoma MONDO:0002809 DOID:3892 DOID:3918 pancreatic cystadenoma MONDO:0024677 pancreatic insulinoma MONDO:0005165 DOID:3892 DOID:0060084 benign neoplasm +MONDO:0024773 spermatogenic failure, X-linked, 4 MONDO:0000425 DOID:0070595 DOID:0050735 X-linked disease MONDO:0024889 benign mesonephroma MONDO:0000383 DOID:2616 DOID:0050622 benign reproductive system neoplasm MONDO:0024889 benign mesonephroma MONDO:0004972 DOID:2616 DOID:657 adenoma MONDO:0024892 soft tissue amyloid neoplasm MONDO:0002616 DOID:6755 DOID:3350 mesenchymal cell neoplasm @@ -3819,7 +3822,17 @@ MONDO:0030680 cardiomyopathy, dilated, 2F MONDO:0006025 DOID:0081162 DOID:005073 MONDO:0030695 developmental and epileptic encephalopathy 100 MONDO:0000426 DOID:0070386 DOID:0050736 autosomal dominant disease MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:0006025 DOID:0070451 DOID:0050737 autosomal recessive disease MONDO:0030712 oculopharyngodistal myopathy 4 MONDO:0000426 DOID:0081300 DOID:0050736 autosomal dominant disease +MONDO:0030716 spermatogenic failure 66 MONDO:0006025 DOID:0070565 DOID:0050737 autosomal recessive disease +MONDO:0030716 spermatogenic failure 66 MONDO:0015746 DOID:0070565 DOID:0112312 male infertility due to globozoospermia +MONDO:0030718 spermatogenic failure 67 MONDO:0006025 DOID:0070566 DOID:0050737 autosomal recessive disease +MONDO:0030718 spermatogenic failure 67 MONDO:0015746 DOID:0070566 DOID:0112312 male infertility due to globozoospermia +MONDO:0030721 spermatogenic failure 68 MONDO:0006025 DOID:0070567 DOID:0050737 autosomal recessive disease MONDO:0030727 developmental and epileptic encephalopathy 101 MONDO:0006025 DOID:0070387 DOID:0050737 autosomal recessive disease +MONDO:0030732 spermatogenic failure 69 MONDO:0006025 DOID:0070568 DOID:0050737 autosomal recessive disease +MONDO:0030733 spermatogenic failure 70 MONDO:0006025 DOID:0070569 DOID:0050737 autosomal recessive disease +MONDO:0030787 spermatogenic failure 71 MONDO:0006025 DOID:0070570 DOID:0050737 autosomal recessive disease +MONDO:0030809 spermatogenic failure 72 MONDO:0006025 DOID:0070571 DOID:0050737 autosomal recessive disease +MONDO:0030818 spermatogenic failure 73 MONDO:0006025 DOID:0070572 DOID:0050737 autosomal recessive disease MONDO:0030844 spermatogenic failure 47 MONDO:0006025 DOID:0112175 DOID:0050737 autosomal recessive disease MONDO:0030846 spermatogenic failure 48 MONDO:0006025 DOID:0112176 DOID:0050737 autosomal recessive disease MONDO:0030847 arthrogryposis, distal, type 1C MONDO:0000429 DOID:0112190 DOID:0050739 autosomal genetic disease @@ -3851,8 +3864,10 @@ MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0000426 DOID:0070389 DOID:0050736 autosomal dominant disease MONDO:0030958 dystonia 35, childhood-onset MONDO:0006025 DOID:0060955 DOID:0050737 autosomal recessive disease MONDO:0030962 nephrotic syndrome, type 23 MONDO:0006025 DOID:0112266 DOID:0050737 autosomal recessive disease +MONDO:0030972 spermatogenic failure 74 MONDO:0006025 DOID:0070573 DOID:0050737 autosomal recessive disease MONDO:0030981 immunodeficiency 79 MONDO:0001222 DOID:0112277 DOID:11200 congenital T-cell immunodeficiency MONDO:0030981 immunodeficiency 79 MONDO:0006025 DOID:0112277 DOID:0050737 autosomal recessive disease +MONDO:0030984 spermatogenic failure 75 MONDO:0006025 DOID:0070574 DOID:0050737 autosomal recessive disease MONDO:0030985 premature ovarian failure 19 MONDO:0006025 DOID:0112278 DOID:0050737 autosomal recessive disease MONDO:0030989 spermatogenic failure 53 MONDO:0006025 DOID:0112279 DOID:0050737 autosomal recessive disease MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0002254 DOID:0112290 DOID:225 syndromic disease @@ -3863,6 +3878,8 @@ MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitaris MONDO:0031043 lymphatic malformation 12 MONDO:0000426 DOID:0081030 DOID:0050736 autosomal dominant disease MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0006025 DOID:0070392 DOID:0050737 autosomal recessive disease MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0006025 DOID:0070393 DOID:0050737 autosomal recessive disease +MONDO:0031077 spermatogenic failure 76 MONDO:0006025 DOID:0070575 DOID:0050737 autosomal recessive disease +MONDO:0031083 spermatogenic failure 77 MONDO:0006025 DOID:0070576 DOID:0050737 autosomal recessive disease MONDO:0031166 macular dystrophy, retinal MONDO:0000426 DOID:0070438 DOID:0050736 autosomal dominant disease MONDO:0031166 macular dystrophy, retinal MONDO:0003004 DOID:0070438 DOID:4448 macular degeneration MONDO:0031213 restrictive dermopathy MONDO:0005093 DOID:0060762 DOID:37 skin disorder @@ -4366,13 +4383,18 @@ MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MO MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0006025 DOID:0060981 DOID:0050737 autosomal recessive disease MONDO:0859335 congenital myopathy 15 MONDO:0000426 DOID:0081347 DOID:0050736 autosomal dominant disease MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0006025 DOID:0070430 DOID:0050737 autosomal recessive disease +MONDO:0859338 spermatogenic failure 78 MONDO:0006025 DOID:0070577 DOID:0050737 autosomal recessive disease MONDO:0859341 hypotrichosis 15 MONDO:0006025 DOID:0060968 DOID:0050737 autosomal recessive disease +MONDO:0859352 spermatogenic failure 79 MONDO:0006025 DOID:0070578 DOID:0050737 autosomal recessive disease MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0006025 DOID:0070510 DOID:0050737 autosomal recessive disease MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0006025 DOID:0081328 DOID:0050737 autosomal recessive disease MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0000426 DOID:0070455 DOID:0050736 autosomal dominant disease +MONDO:0859364 spermatogenic failure 80 MONDO:0006025 DOID:0070579 DOID:0050737 autosomal recessive disease MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities MONDO:0019502 DOID:0081444 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0000426 DOID:0070401 DOID:0050736 autosomal dominant disease MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0000426 DOID:0060944 DOID:0050736 autosomal dominant disease +MONDO:0859477 spermatogenic failure, X-linked, 5 MONDO:0000425 DOID:0070596 DOID:0050735 X-linked disease +MONDO:0859478 spermatogenic failure, X-linked, 6 MONDO:0000425 DOID:0070597 DOID:0050735 X-linked disease MONDO:0859514 congenital myopathy 18 MONDO:0000426 DOID:0081350 DOID:0050736 autosomal dominant disease MONDO:0859514 congenital myopathy 18 MONDO:0006025 DOID:0081350 DOID:0050737 autosomal recessive disease MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0006025 DOID:0081345 DOID:0050737 autosomal recessive disease @@ -4380,20 +4402,25 @@ MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MOND MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0006025 DOID:0070403 DOID:0050737 autosomal recessive disease MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 MONDO:0006025 DOID:0070485 DOID:0050737 autosomal recessive disease MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 MONDO:0009068 DOID:0070485 DOID:3762 cytochrome-c oxidase deficiency disease +MONDO:0859522 spermatogenic failure 81 MONDO:0006025 DOID:0070580 DOID:0050737 autosomal recessive disease MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0000426 DOID:0081340 DOID:0050736 autosomal dominant disease MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile MONDO:0000426 DOID:0081381 DOID:0050736 autosomal dominant disease +MONDO:0957202 spermatogenic failure, X-linked, 7 MONDO:0020605 DOID:0070598 DOID:0080012 X-linked recessive disease MONDO:0957215 congenital myopathy 20 MONDO:0006025 DOID:0081352 DOID:0050737 autosomal recessive disease MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0006025 DOID:0070454 DOID:0050737 autosomal recessive disease MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:0006025 DOID:0081353 DOID:0050737 autosomal recessive disease MONDO:0957240 cone-rod dystrophy 24 MONDO:0000426 DOID:0081449 DOID:0050736 autosomal dominant disease MONDO:0957247 congenital myopathy 22A, classic MONDO:0006025 DOID:0081354 DOID:0050737 autosomal recessive disease MONDO:0957248 developmental and epileptic encephalopathy, 31B MONDO:0006025 DOID:0070376 DOID:0050737 autosomal recessive disease +MONDO:0957249 spermatogenic failure 82 MONDO:0006025 DOID:0070581 DOID:0050737 autosomal recessive disease +MONDO:0957250 spermatogenic failure 83 MONDO:0006025 DOID:0070582 DOID:0050737 autosomal recessive disease MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MONDO:0000426 DOID:0070461 DOID:0050736 autosomal dominant disease MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0006025 DOID:0070464 DOID:0050737 autosomal recessive disease MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0006025 DOID:0081355 DOID:0050737 autosomal recessive disease MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0006025 DOID:0070458 DOID:0050737 autosomal recessive disease MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0006025 DOID:0081374 DOID:0050737 autosomal recessive disease MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0000426 DOID:0081375 DOID:0050736 autosomal dominant disease +MONDO:0957301 spermatogenic failure 84 MONDO:0006025 DOID:0070583 DOID:0050737 autosomal recessive disease MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0000426 DOID:0070551 DOID:0050736 autosomal dominant disease MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0000426 DOID:0070459 DOID:0050736 autosomal dominant disease MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0000426 DOID:0070460 DOID:0050736 autosomal dominant disease @@ -4410,13 +4437,26 @@ MONDO:0957542 dystonia 22, adult-onset MONDO:0006025 DOID:0060967 DOID:0050737 a MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:0006025 DOID:0070486 DOID:0050737 autosomal recessive disease MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:0017279 DOID:0070486 DOID:0060894 young-onset Parkinson disease MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0015802 DOID:0070513 DOID:0060307 autosomal dominant non-syndromic intellectual disability +MONDO:0957584 spermatogenic failure 85 MONDO:0006025 DOID:0070584 DOID:0050737 autosomal recessive disease +MONDO:0957584 spermatogenic failure 85 MONDO:0015746 DOID:0070584 DOID:0112312 male infertility due to globozoospermia +MONDO:0957593 spermatogenic failure 86 MONDO:0006025 DOID:0070585 DOID:0050737 autosomal recessive disease +MONDO:0957594 spermatogenic failure 87 MONDO:0006025 DOID:0070586 DOID:0050737 autosomal recessive disease MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies MONDO:0015802 DOID:0060933 DOID:0060307 autosomal dominant non-syndromic intellectual disability +MONDO:0957821 spermatogenic failure 88 MONDO:0006025 DOID:0070587 DOID:0050737 autosomal recessive disease MONDO:0957921 Cornelia de Lange syndrome 6 MONDO:0000426 DOID:0060970 DOID:0050736 autosomal dominant disease MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0000426 DOID:0070472 DOID:0050736 autosomal dominant disease MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0005027 DOID:0070472 DOID:1826 epilepsy +MONDO:0958206 spermatogenic failure 89 MONDO:0006025 DOID:0070588 DOID:0050737 autosomal recessive disease MONDO:0958230 orofaciodigital syndrome 20 MONDO:0006025 DOID:0060962 DOID:0050737 autosomal recessive disease +MONDO:0958242 spermatogenic failure 90 MONDO:0006025 DOID:0070589 DOID:0050737 autosomal recessive disease +MONDO:0970943 spermatogenic failure, x-linked, 8 MONDO:0000425 DOID:0070599 DOID:0050735 X-linked disease MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0000426 DOID:0070545 DOID:0050736 autosomal dominant disease MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0004736 DOID:0070545 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0970952 spermatogenic failure 91 MONDO:0006025 DOID:0070590 DOID:0050737 autosomal recessive disease +MONDO:0970999 spermatogenic failure 92 MONDO:0006025 DOID:0070591 DOID:0050737 autosomal recessive disease +MONDO:0971000 spermatogenic failure 93 MONDO:0006025 DOID:0070592 DOID:0050737 autosomal recessive disease +MONDO:0971002 spermatogenic failure 94 MONDO:0006025 DOID:0070593 DOID:0050737 autosomal recessive disease +MONDO:0975747 spermatogenic failure 95 MONDO:0006025 DOID:0070594 DOID:0050737 autosomal recessive disease MONDO:8000006 WHIM syndrome 1 MONDO:0000426 DOID:0060591 DOID:0050736 autosomal dominant disease MONDO:8000006 WHIM syndrome 1 MONDO:0003778 DOID:0060591 DOID:612 inborn error of immunity MONDO:8000008 Martsolf syndrome 1 MONDO:0006025 DOID:0111586 DOID:0050737 autosomal recessive disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index a2dd6029..e07712b0 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -303,7 +303,6 @@ MONDO:0000849 fibrogenesis imperfecta ossium MONDO:0002254 DOID:0080040 DOID:225 MONDO:0000858 neuronal intestinal dysplasia MONDO:0003409 DOID:0080072 DOID:5353 colonic disorder MONDO:0000859 spina bifida occulta MONDO:0008449 DOID:0080073 DOID:0080016 spina bifida MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0009637 DOID:0080099 DOID:699 inborn mitochondrial myopathy -MONDO:0000866 hereditary myoglobinuria MONDO:0005336 DOID:0080108 DOID:423 myopathy MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004967 DOID:0080144 DOID:9952 acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0000870 DOID:0080145 DOID:0080144 childhood acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004963 DOID:0080145 DOID:5603 T-cell acute lymphoblastic leukemia @@ -621,7 +620,6 @@ MONDO:0001294 Horner syndrome MONDO:0001300 DOID:11486 DOID:11504 autonomic neur MONDO:0001295 idiopathic peripheral autonomic neuropathy MONDO:0001292 DOID:11488 DOID:11465 autonomic nervous system disorder MONDO:0001296 acquired night blindness MONDO:0006873 DOID:11491 DOID:5113 nutritional deficiency disease MONDO:0001297 cardiac tamponade MONDO:0001370 DOID:115 DOID:118 pericardial effusion -MONDO:0001298 congenital mitral valve insufficiency MONDO:0003767 DOID:11502 DOID:61 mitral valve disorder MONDO:0001299 diabetic autonomic neuropathy MONDO:0001300 DOID:11503 DOID:11504 autonomic neuropathy MONDO:0001300 autonomic neuropathy MONDO:0001292 DOID:11504 DOID:11465 autonomic nervous system disorder MONDO:0001300 autonomic neuropathy MONDO:0005244 DOID:0060054 DOID:870 peripheral neuropathy @@ -659,6 +657,7 @@ MONDO:0001339 portal vein thrombosis MONDO:0000831 DOID:11695 DOID:0060903 throm MONDO:0001339 portal vein thrombosis MONDO:0002405 DOID:11695 DOID:272 hepatic vascular disorder MONDO:0001339 portal vein thrombosis MONDO:0004634 DOID:11695 DOID:866 vein disorder MONDO:0001340 heart cancer MONDO:0002100 DOID:117 DOID:176 cardiovascular cancer +MONDO:0001340 heart cancer MONDO:0003274 DOID:117 DOID:5093 thoracic cancer MONDO:0001341 selective IgA deficiency disease MONDO:0001342 DOID:11701 DOID:11702 dysgammaglobulinemia MONDO:0001342 dysgammaglobulinemia MONDO:0003739 DOID:11702 DOID:6025 selective immunoglobulin deficiency disease MONDO:0001345 antidepressant type abuse MONDO:0002491 DOID:11718 DOID:302 substance abuse @@ -801,7 +800,6 @@ MONDO:0001513 pulsating exophthalmos MONDO:0004751 DOID:12364 DOID:930 disease o MONDO:0001514 prolapse of urethra MONDO:0001592 DOID:12369 DOID:1284 prolapse of female genital organ MONDO:0001514 prolapse of urethra MONDO:0004184 DOID:12369 DOID:732 urethral disorder MONDO:0001515 corneal degeneration MONDO:0000942 DOID:1237 DOID:10124 corneal disorder -MONDO:0001516 spinal muscular atrophy MONDO:0020128 DOID:12377 DOID:231 motor neuron disorder MONDO:0001517 dysentery MONDO:0000916 DOID:12384 DOID:100 intestinal infectious disease MONDO:0001518 spastic entropion MONDO:0001519 DOID:12395 DOID:12397 entropion MONDO:0001519 entropion MONDO:0003382 DOID:12397 DOID:530 eyelid disorder @@ -4208,7 +4206,6 @@ MONDO:0007243 Burkitt lymphoma MONDO:0004949 DOID:8584 DOID:706 neoplasm of matu MONDO:0007244 Caffey disease MONDO:0002614 DOID:4257 DOID:3342 bone inflammation disease MONDO:0007251 campomelic dysplasia MONDO:0005516 DOID:0050463 DOID:2256 osteochondrodysplasia MONDO:0007252 Gordon syndrome MONDO:0019942 DOID:0111607 DOID:0050646 distal arthrogryposis -MONDO:0007254 breast cancer MONDO:0003274 DOID:1612 DOID:5093 thoracic cancer MONDO:0007265 cardiofaciocutaneous syndrome 1 MONDO:0015280 DOID:0111460 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0007266 hypertrophic cardiomyopathy 2 MONDO:0024573 DOID:0110308 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0007267 hypertrophic cardiomyopathy 3 MONDO:0024573 DOID:0110309 DOID:0080326 familial hypertrophic cardiomyopathy @@ -5545,7 +5542,6 @@ MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 DOID:0110158 DOI MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 DOID:0110150 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 DOID:0111298 DOID:0111297 febrile seizures, familial MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 DOID:0110165 DOID:0050539 Charcot-Marie-Tooth disease type 2 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 DOID:0060794 DOID:0060786 leukodystrophy MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0018993 DOID:0110166 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0019011 DOID:0110149 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0018993 DOID:0110157 DOID:0050539 Charcot-Marie-Tooth disease type 2 @@ -6212,7 +6208,6 @@ MONDO:0013709 intellectual disability, autosomal recessive 28 MONDO:0019502 DOID MONDO:0013717 asphyxiating thoracic dystrophy 5 MONDO:0018770 DOID:0110089 DOID:0050592 Jeune syndrome MONDO:0013718 nephronophthisis 13 MONDO:0019005 DOID:0111121 DOID:12712 nephronophthisis MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 DOID:0080806 DOID:0050577 cranioectodermal dysplasia -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 DOID:0060797 DOID:0060786 leukodystrophy MONDO:0013730 graft versus host disease MONDO:0005046 DOID:0081267 DOID:2914 immune system disorder MONDO:0013731 MEGF10-related myopathy MONDO:0019952 DOID:0111333 DOID:0081337 congenital myopathy MONDO:0013734 microphthalmia, syndromic 11 MONDO:0016073 DOID:0111804 DOID:0080636 syndromic microphthalmia @@ -6237,7 +6232,7 @@ MONDO:0013788 Usher syndrome type 3B MONDO:0016485 DOID:0110842 DOID:0110828 Ush MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0005500 DOID:0080569 DOID:0050570 congenital disorder of glycosylation type I MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 DOID:0080673 DOID:0060465 fibrochondrogenesis MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 DOID:0110869 DOID:0050534 congenital stationary night blindness -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0005501 DOID:0070264 DOID:0050571 congenital disorder of glycosylation type II +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0005501 DOID:0070264 DOID:0050571 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 DOID:0111472 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 DOID:0081113 DOID:0060229 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0013818 trichohepatoenteric syndrome 2 MONDO:0009105 DOID:0111416 DOID:0111414 trichohepatoenteric syndrome @@ -6583,7 +6578,6 @@ MONDO:0014660 microcephaly 15, primary, autosomal recessive MONDO:0016660 DOID:0 MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015364 DOID:0070153 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0014664 Joubert syndrome 23 MONDO:0018772 DOID:0110992 DOID:0050777 Joubert syndrome MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0018993 DOID:0110178 DOID:0050539 Charcot-Marie-Tooth disease type 2 -MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 DOID:0060792 DOID:0060786 leukodystrophy MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0015487 DOID:0080359 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0015487 DOID:0080360 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0014669 cone-rod dystrophy 21 MONDO:0015993 DOID:0081447 DOID:0050572 cone-rod dystrophy @@ -7355,6 +7349,7 @@ MONDO:0024622 thyroid gland adenocarcinoma MONDO:0015075 DOID:0080524 DOID:3963 MONDO:0024647 urolithiasis MONDO:0002118 DOID:0080653 DOID:18 urinary system disorder MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0002400 DOID:2702 DOID:2703 synovitis MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:0020119 DOID:0070422 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0024773 spermatogenic failure, X-linked, 4 MONDO:0004983 DOID:0070595 DOID:0111910 spermatogenic failure MONDO:0024988 sex cord-stromal benign neoplasm MONDO:0000383 DOID:0080368 DOID:0050622 benign reproductive system neoplasm MONDO:0025353 developmental and epileptic encephalopathy, 90 MONDO:0100062 DOID:0070381 DOID:0112202 developmental and epileptic encephalopathy MONDO:0025354 spermatogenic failure, X-linked, 3 MONDO:0004983 DOID:0112274 DOID:0111910 spermatogenic failure @@ -7450,9 +7445,15 @@ MONDO:0030701 autoimmune cardiomyopathy MONDO:0000603 DOID:0040095 DOID:0060051 MONDO:0030702 autoimmune atherosclerosis MONDO:0000603 DOID:0040096 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0030703 autoimmune vasculitis MONDO:0000603 DOID:0040097 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0030712 oculopharyngodistal myopathy 4 MONDO:0025193 DOID:0081300 DOID:0081296 oculopharyngodistal myopathy +MONDO:0030721 spermatogenic failure 68 MONDO:0004983 DOID:0070567 DOID:0111910 spermatogenic failure MONDO:0030727 developmental and epileptic encephalopathy 101 MONDO:0100062 DOID:0070387 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0030732 spermatogenic failure 69 MONDO:0004983 DOID:0070568 DOID:0111910 spermatogenic failure +MONDO:0030733 spermatogenic failure 70 MONDO:0004983 DOID:0070569 DOID:0111910 spermatogenic failure MONDO:0030781 restrictive dermopathy 2 MONDO:0031213 DOID:0070370 DOID:0060762 restrictive dermopathy MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly MONDO:0019502 DOID:0081234 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0030787 spermatogenic failure 71 MONDO:0004983 DOID:0070570 DOID:0111910 spermatogenic failure +MONDO:0030809 spermatogenic failure 72 MONDO:0004983 DOID:0070571 DOID:0111910 spermatogenic failure +MONDO:0030818 spermatogenic failure 73 MONDO:0004983 DOID:0070572 DOID:0111910 spermatogenic failure MONDO:0030844 spermatogenic failure 47 MONDO:0004983 DOID:0112175 DOID:0111910 spermatogenic failure MONDO:0030846 spermatogenic failure 48 MONDO:0004983 DOID:0112176 DOID:0111910 spermatogenic failure MONDO:0030856 developmental and epileptic encephalopathy 89 MONDO:0100062 DOID:0112223 DOID:0112202 developmental and epileptic encephalopathy @@ -7486,7 +7487,9 @@ MONDO:0030938 spermatogenic failure 52 MONDO:0004983 DOID:0112270 DOID:0111910 s MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0100062 DOID:0070389 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030962 nephrotic syndrome, type 23 MONDO:0002350 DOID:0112266 DOID:2590 familial nephrotic syndrome MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 DOID:0081235 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0030972 spermatogenic failure 74 MONDO:0004983 DOID:0070573 DOID:0111910 spermatogenic failure MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0015363 DOID:0081426 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive +MONDO:0030984 spermatogenic failure 75 MONDO:0004983 DOID:0070574 DOID:0111910 spermatogenic failure MONDO:0030989 spermatogenic failure 53 MONDO:0004983 DOID:0112279 DOID:0111910 spermatogenic failure MONDO:0031012 autoimmune uveitis MONDO:0000587 DOID:0040088 DOID:0060030 autoimmune disease of ear, nose and throat MONDO:0031013 autoimmune optic neuritis MONDO:0000590 DOID:0040089 DOID:0060033 autoimmune disorder of peripheral nervous system @@ -7498,6 +7501,8 @@ MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 MONDO: MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0100062 DOID:0070392 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0100062 DOID:0070393 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031062 polycystic kidney disease 7 MONDO:0004691 DOID:0060952 DOID:898 autosomal dominant polycystic kidney disease +MONDO:0031077 spermatogenic failure 76 MONDO:0004983 DOID:0070575 DOID:0111910 spermatogenic failure +MONDO:0031083 spermatogenic failure 77 MONDO:0004983 DOID:0070576 DOID:0111910 spermatogenic failure MONDO:0031084 amelogenesis imperfecta, IIa 1K MONDO:0019507 DOID:0060945 DOID:2187 amelogenesis imperfecta MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0002254 DOID:0081072 DOID:225 syndromic disease MONDO:0032526 spinocerebellar ataxia 48 MONDO:0020380 DOID:0111746 DOID:1441 autosomal dominant cerebellar ataxia @@ -7891,7 +7896,6 @@ MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:008 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:0060728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita MONDO:0800372 Joubert syndrome 29 MONDO:0018772 DOID:0080276 DOID:0050777 Joubert syndrome MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 DOID:0081124 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome @@ -8014,7 +8018,6 @@ MONDO:0858916 pituitary blastoma MONDO:0005565 DOID:0081244 DOID:0070003 blastom MONDO:0858917 cauda equina neuroendocrine tumor MONDO:0003164 DOID:0081245 DOID:4847 cauda equina neoplasm MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 DOID:0081249 DOID:3098 small cell sarcoma MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome MONDO:0002254 DOID:0081264 DOID:225 syndromic disease -MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype MONDO:0100342 DOID:0081277 DOID:3070 malignant glioma MONDO:0858940 infant-type hemispheric glioma MONDO:0021636 DOID:0081278 DOID:3069 astrocytic tumor MONDO:0858944 myxoid glioneuronal tumor MONDO:0000628 DOID:0081285 DOID:0060090 central nervous system organ benign neoplasm MONDO:0858956 diffuse leptomeningeal glioneuronal tumor MONDO:0000628 DOID:0081302 DOID:0060090 central nervous system organ benign neoplasm @@ -8042,16 +8045,22 @@ MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MO MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 DOID:0060981 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0859338 spermatogenic failure 78 MONDO:0004983 DOID:0070577 DOID:0111910 spermatogenic failure MONDO:0859341 hypotrichosis 15 MONDO:0003037 DOID:0060968 DOID:4535 hypotrichosis MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 DOID:0060982 DOID:0080688 mosaic variegated aneuploidy syndrome +MONDO:0859352 spermatogenic failure 79 MONDO:0004983 DOID:0070578 DOID:0111910 spermatogenic failure MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia +MONDO:0859364 spermatogenic failure 80 MONDO:0004983 DOID:0070579 DOID:0111910 spermatogenic failure MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0019046 DOID:0070401 DOID:0060786 leukodystrophy +MONDO:0859477 spermatogenic failure, X-linked, 5 MONDO:0004983 DOID:0070596 DOID:0111910 spermatogenic failure +MONDO:0859478 spermatogenic failure, X-linked, 6 MONDO:0004983 DOID:0070597 DOID:0111910 spermatogenic failure MONDO:0859514 congenital myopathy 18 MONDO:0019952 DOID:0081350 DOID:0081337 congenital myopathy MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0019952 DOID:0081345 DOID:0081337 congenital myopathy MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0019952 DOID:0081339 DOID:0081337 congenital myopathy MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0019046 DOID:0070403 DOID:0060786 leukodystrophy +MONDO:0859522 spermatogenic failure 81 MONDO:0004983 DOID:0070580 DOID:0111910 spermatogenic failure MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0019952 DOID:0081340 DOID:0081337 congenital myopathy MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 DOID:0081125 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0859568 macular dystrophy, retinal, 4 MONDO:0031166 DOID:0070441 DOID:0070438 macular dystrophy, retinal @@ -8095,6 +8104,7 @@ MONDO:0956994 astrocytoma, IDH-mutant, grade 2 MONDO:0850332 DOID:0081256 DOID:0 MONDO:0956995 astrocytoma, IDH-mutant, grade 3 MONDO:0850332 DOID:0081257 DOID:0080875 IDH-mutant anaplastic astrocytoma MONDO:0956996 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 MONDO:0859592 DOID:0081281 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma MONDO:0956997 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 MONDO:0859592 DOID:0081282 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma +MONDO:0957202 spermatogenic failure, X-linked, 7 MONDO:0004983 DOID:0070598 DOID:0111910 spermatogenic failure MONDO:0957203 intellectual developmental disorder, X-linked 111 MONDO:0019181 DOID:0060929 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0957215 congenital myopathy 20 MONDO:0019952 DOID:0081352 DOID:0081337 congenital myopathy MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0019064 DOID:0070454 DOID:2476 hereditary spastic paraplegia @@ -8102,16 +8112,22 @@ MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:001995 MONDO:0957240 cone-rod dystrophy 24 MONDO:0015993 DOID:0081449 DOID:0050572 cone-rod dystrophy MONDO:0957247 congenital myopathy 22A, classic MONDO:0019952 DOID:0081354 DOID:0081337 congenital myopathy MONDO:0957248 developmental and epileptic encephalopathy, 31B MONDO:0100062 DOID:0070376 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0957249 spermatogenic failure 82 MONDO:0004983 DOID:0070581 DOID:0111910 spermatogenic failure +MONDO:0957250 spermatogenic failure 83 MONDO:0004983 DOID:0070582 DOID:0111910 spermatogenic failure MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0014471 DOID:0070464 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 DOID:0081355 DOID:0081337 congenital myopathy MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 DOID:0070458 DOID:2476 hereditary spastic paraplegia MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 DOID:0081374 DOID:3191 nemaline myopathy MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 DOID:0081375 DOID:3191 nemaline myopathy +MONDO:0957301 spermatogenic failure 84 MONDO:0004983 DOID:0070583 DOID:0111910 spermatogenic failure MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 DOID:0070551 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 DOID:0070459 DOID:2476 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 DOID:0070460 DOID:2476 hereditary spastic paraplegia MONDO:0957519 diffuse gastric cancer MONDO:0001056 DOID:0080763 DOID:10534 gastric cancer MONDO:0957524 COX deficiency, benign infantile mitochondrial myopathy MONDO:0009068 DOID:0081377 DOID:3762 cytochrome-c oxidase deficiency disease +MONDO:0957593 spermatogenic failure 86 MONDO:0004983 DOID:0070585 DOID:0111910 spermatogenic failure +MONDO:0957594 spermatogenic failure 87 MONDO:0004983 DOID:0070586 DOID:0111910 spermatogenic failure +MONDO:0957821 spermatogenic failure 88 MONDO:0004983 DOID:0070587 DOID:0111910 spermatogenic failure MONDO:0957870 leukoencephalopathy with vanishing white matter 2 MONDO:0800448 DOID:0070373 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957871 leukoencephalopathy with vanishing white matter 3 MONDO:0800448 DOID:0070372 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957872 leukoencephalopathy with vanishing white matter 4 MONDO:0800448 DOID:0070371 DOID:0060868 leukoencephalopathy with vanishing white matter @@ -8134,9 +8150,11 @@ MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 DOID MONDO:0958184 epidermolytic hyperkeratosis 2 MONDO:0007239 DOID:0081359 DOID:4603 epidermolytic ichthyosis MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 DOID:0070366 DOID:2512 nevoid basal cell carcinoma syndrome MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 DOID:0070364 DOID:0050335 bradyopsia +MONDO:0958206 spermatogenic failure 89 MONDO:0004983 DOID:0070588 DOID:0111910 spermatogenic failure MONDO:0958230 orofaciodigital syndrome 20 MONDO:0015375 DOID:0060962 DOID:4501 orofaciodigital syndrome MONDO:0958235 Ullrich congenital muscular dystrophy 1B MONDO:0000355 DOID:0060942 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958236 Ullrich congenital muscular dystrophy 1C MONDO:0000355 DOID:0060943 DOID:0050558 Ullrich congenital muscular dystrophy +MONDO:0958242 spermatogenic failure 90 MONDO:0004983 DOID:0070589 DOID:0111910 spermatogenic failure MONDO:0958295 BCOR ITD sarcoma MONDO:0958159 DOID:0081403 DOID:0081402 sarcoma with BCOR genetic alterations MONDO:0958296 BCOR-CCNB3 sarcoma MONDO:0958159 DOID:0081404 DOID:0081402 sarcoma with BCOR genetic alterations MONDO:0958297 childhood sarcoma with BCOR genetic alterations MONDO:0958159 DOID:0081405 DOID:0081402 sarcoma with BCOR genetic alterations @@ -8148,7 +8166,20 @@ MONDO:0958302 TFEB-rearranged renal cell carcinoma MONDO:0017886 DOID:0081414 DO MONDO:0958303 childhood renal cell carcinoma with MiT translocations MONDO:0017886 DOID:0081416 DOID:0081413 MIT family translocation renal cell carcinoma MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 DOID:0060947 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0968974 large B-cell lymphoma MONDO:0004095 DOID:0081452 DOID:707 B-cell neoplasm +MONDO:0970943 spermatogenic failure, x-linked, 8 MONDO:0004983 DOID:0070599 DOID:0111910 spermatogenic failure MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0100062 DOID:0070545 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0970952 spermatogenic failure 91 MONDO:0004983 DOID:0070590 DOID:0111910 spermatogenic failure +MONDO:0970999 spermatogenic failure 92 MONDO:0004983 DOID:0070591 DOID:0111910 spermatogenic failure +MONDO:0971000 spermatogenic failure 93 MONDO:0004983 DOID:0070592 DOID:0111910 spermatogenic failure +MONDO:0971002 spermatogenic failure 94 MONDO:0004983 DOID:0070593 DOID:0111910 spermatogenic failure +MONDO:0971031 auto-brewery syndrome MONDO:0006504 DOID:0081455 DOID:0060158 acquired metabolic disease +MONDO:0971032 bladder fermentation syndrome MONDO:0006504 DOID:0081456 DOID:0060158 acquired metabolic disease +MONDO:0971033 intrathyroid thymic carcinoma MONDO:0015075 DOID:0081457 DOID:3963 thyroid gland carcinoma +MONDO:0971034 thyroid gland cribriform morular carcinoma MONDO:0015075 DOID:0081458 DOID:3963 thyroid gland carcinoma +MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma MONDO:0015075 DOID:0081459 DOID:3963 thyroid gland carcinoma +MONDO:0971036 thyroid gland mucinous carcinoma MONDO:0015075 DOID:0081460 DOID:3963 thyroid gland carcinoma +MONDO:0975747 spermatogenic failure 95 MONDO:0004983 DOID:0070594 DOID:0111910 spermatogenic failure +MONDO:1030008 mitral valve insufficiency MONDO:0003767 DOID:11502 DOID:61 mitral valve disorder MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0000858 DOID:0080679 DOID:0080072 neuronal intestinal dysplasia MONDO:8000018 benign paroxysmal positional vertigo MONDO:0004900 DOID:13941 DOID:9847 peripheral vertigo MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0017979 DOID:0110119 DOID:6688 autoimmune lymphoproliferative syndrome diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv index 0a42a0e7..08ae5f75 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv @@ -2,12 +2,9 @@ term_id term_label 1_in_mirror_tsv 2_in_component_tsv 3_in_mondo_xrefs in1_notIn DOID:6809 obsolete vaginal tubular adenoma True False True True DOID:10919 obsolete transsexualism True False True True DOID:0050068 obsolete pestis minor True False True True -DOID:0060015 obsolete interleukin-7 receptor alpha deficiency True False True True -DOID:0081164 obsolete dilated cardiomyopathy 3B True False True True DOID:1634 obsolete breast papillomatosis True False True True DOID:5209 obsolete benign struma ovarii True False True True DOID:955 obsolete benign neurilemmoma True False True True DOID:7922 obsolete benign mediastinal neurilemmoma True False True True -DOID:0110578 obsolete autosomal dominant nonsyndromic deafness 52 True False True True DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True False True True DOID:0050867 obsolete Jensen syndrome True False True True diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv index 996581f1..232caa18 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -12 0.0008 +9 0.0006 diff --git a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv index ae601666..a75b0682 100644 --- a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv @@ -1,5 +1,2 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0010542 DOID:0081164 MONDO:equivalentObsolete -MONDO:0011893 DOID:0110578 MONDO:equivalentObsolete -MONDO:0015701 DOID:0060015 MONDO:equivalentObsolete diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index a20b7aa8..080dd812 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -3,48 +3,33 @@ DOID:0050156 idiopathic pulmonary fibrosis False False False DOID:0060160 childhood spinal muscular atrophy False False False DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 False False False DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 False False False +DOID:0060984 digenic dyskeratosis congenita False False False +DOID:0060985 preaxial polydactyly type IV False False False +DOID:0060986 preaxial polydactyly II False False False +DOID:0060987 preaxial polydactyly I False False False +DOID:0060988 pancreatic agenesis 2 False False False +DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 False False False +DOID:0060990 congenital disorder of deglycosylation 2 False False False +DOID:0060991 congenital disorder of deglycosylation False False False +DOID:0060992 bent bone dysplasia syndrome 1 False False False +DOID:0060993 bent bone dysplasia syndrome 2 False False False +DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 False False False DOID:0070564 dialysis disequilibrium syndrome False False False -DOID:0070565 spermatogenic failure 66 False False False -DOID:0070566 spermatogenic failure 67 False False False -DOID:0070567 spermatogenic failure 68 False False False -DOID:0070568 spermatogenic failure 69 False False False -DOID:0070569 spermatogenic failure 70 False False False -DOID:0070570 spermatogenic failure 71 False False False -DOID:0070571 spermatogenic failure 72 False False False -DOID:0070572 spermatogenic failure 73 False False False -DOID:0070573 spermatogenic failure 74 False False False -DOID:0070574 spermatogenic failure 75 False False False -DOID:0070575 spermatogenic failure 76 False False False -DOID:0070576 spermatogenic failure 77 False False False -DOID:0070577 spermatogenic failure 78 False False False -DOID:0070578 spermatogenic failure 79 False False False -DOID:0070579 spermatogenic failure 80 False False False -DOID:0070580 spermatogenic failure 81 False False False -DOID:0070581 spermatogenic failure 82 False False False -DOID:0070582 spermatogenic failure 83 False False False -DOID:0070583 spermatogenic failure 84 False False False -DOID:0070584 spermatogenic failure 85 False False False -DOID:0070585 spermatogenic failure 86 False False False -DOID:0070586 spermatogenic failure 87 False False False -DOID:0070587 spermatogenic failure 88 False False False -DOID:0070588 spermatogenic failure 89 False False False -DOID:0070589 spermatogenic failure 90 False False False -DOID:0070590 spermatogenic failure 91 False False False -DOID:0070591 spermatogenic failure 92 False False False -DOID:0070592 spermatogenic failure 93 False False False -DOID:0070593 spermatogenic failure 94 False False False -DOID:0070594 spermatogenic failure 95 False False False -DOID:0070595 X-linked spermatogenic failure 4 False False False -DOID:0070596 X-linked spermatogenic failure 5 False False False -DOID:0070597 X-linked spermatogenic failure 6 False False False -DOID:0070598 X-linked spermatogenic failure 7 False False False -DOID:0070599 X-linked spermatogenic failure 8 False False False -DOID:0081455 auto-brewery syndrome False False False -DOID:0081456 bladder fermentation syndrome False False False -DOID:0081457 intrathyroid thymic carcinoma False False False -DOID:0081458 thyroid gland cribriform morular carcinoma False False False -DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma False False False -DOID:0081460 thyroid gland mucinous carcinoma False False False +DOID:0070600 intellectual disability and myopathy syndrome False False False +DOID:0070601 autosomal dominant nonsyndromic deafness 37 False False False +DOID:0070602 autosomal dominant nonsyndromic deafness 80 False False False +DOID:0070603 autosomal dominant nonsyndromic deafness 82 False False False +DOID:0070604 autosomal dominant nonsyndromic deafness 84 False False False +DOID:0070605 autosomal dominant nonsyndromic deafness 85 False False False +DOID:0070606 autosomal dominant nonsyndromic deafness 87 False False False +DOID:0070607 autosomal dominant nonsyndromic deafness 90 False False False +DOID:0070608 autosomal dominant nonsyndromic deafness 81 False False False +DOID:0070609 autosomal dominant nonsyndromic deafness 83 False False False +DOID:0070610 autosomal dominant nonsyndromic deafness 86 False False False +DOID:0070611 autosomal dominant nonsyndromic deafness 88 False False False +DOID:0070612 autosomal dominant nonsyndromic deafness 89 False False False +DOID:0070613 familial renal glucosuria False False False +DOID:0070614 chromosome 11 partial duplication syndrome False False False DOID:0111368 cholesterol-ester transfer protein deficiency False False False DOID:146 papilledema False False False DOID:2536 chronic inflammatory demyelinating polyneuritis False False False @@ -467,6 +452,7 @@ DOID:0050875 obsolete small cell neuroendocrine carcinoma of the lung False True DOID:0050878 obsolete CLONE OF congenital afibrinogenemia False True True DOID:0050966 obsolete spinocerebellar ataxia type 16 False True True DOID:0060006 obsolete artemis deficiency False True True +DOID:0060015 obsolete interleukin-7 receptor alpha deficiency False True True DOID:0060035 obsolete medical disorder False True True DOID:0060052 obsolete neurological disorder False True True DOID:0060053 obsolete peripheral neuropathy False True True @@ -520,6 +506,7 @@ DOID:0080469 obsolete congenital disorder of glycosylation type 2m False True Tr DOID:0080713 obsolete MECP2 duplication syndrome False True True DOID:0080783 obsolete X-linked sensorineural deafness False True True DOID:0081062 obsolete diabetes False True True +DOID:0081164 obsolete dilated cardiomyopathy 3B False True True DOID:0081376 obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy False True True DOID:0090121 obsolete apparent mineralocorticoid excess False True True DOID:0110071 obsolete arrhythmogenic right ventricular dysplasia 2 False True True @@ -529,6 +516,7 @@ DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B False True True DOID:0110325 obsolete hypertrophic cardiomyopathy 19 False True True DOID:0110466 obsolete autosomal recessive nonsyndromic deafness 105 False True True +DOID:0110578 obsolete autosomal dominant nonsyndromic deafness 52 False True True DOID:0110631 obsolete arthrogryposis due to muscular dystrophy False True True DOID:0110638 obsolete congenital muscular dystrophy merosin-positive False True True DOID:0110748 obsolete type 1 diabetes mellitus 9 False True True @@ -3159,7 +3147,7 @@ DOID:0050871 fibroma True False False DOID:0050872 large cell neuroendocrine carcinoma True False False DOID:0050873 follicular lymphoma True False False DOID:0050876 Caroli disease True False False -DOID:0050877 pancreatic agenesis True False False +DOID:0050877 pancreatic agenesis 1 True False False DOID:0050879 fragile X-associated tremor/ataxia syndrome True False False DOID:0050880 Koolen de Vries syndrome True False False DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia True False False @@ -3885,7 +3873,7 @@ DOID:0060717 autosomal recessive congenital ichthyosis 8 True False False DOID:0060718 autosomal recessive congenital ichthyosis 9 True False False DOID:0060719 autosomal recessive congenital ichthyosis 10 True False False DOID:0060720 autosomal recessive congenital ichthyosis 11 True False False -DOID:0060728 NGLY1-deficiency True False False +DOID:0060728 congenital disorder of deglycosylation 1 True False False DOID:0060730 torsion dystonia 1 True False False DOID:0060731 congenital central hypoventilation syndrome True False False DOID:0060732 chromosome 9p deletion syndrome True False False @@ -4669,6 +4657,41 @@ DOID:0070560 glucose transporter type 1 deficiency syndrome True False False DOID:0070561 glucose transporter type 1 deficiency syndrome 1 True False False DOID:0070562 Fanconi-Bickel syndrome True False False DOID:0070563 glucose-galactose malabsorption True False False +DOID:0070565 spermatogenic failure 66 True False False +DOID:0070566 spermatogenic failure 67 True False False +DOID:0070567 spermatogenic failure 68 True False False +DOID:0070568 spermatogenic failure 69 True False False +DOID:0070569 spermatogenic failure 70 True False False +DOID:0070570 spermatogenic failure 71 True False False +DOID:0070571 spermatogenic failure 72 True False False +DOID:0070572 spermatogenic failure 73 True False False +DOID:0070573 spermatogenic failure 74 True False False +DOID:0070574 spermatogenic failure 75 True False False +DOID:0070575 spermatogenic failure 76 True False False +DOID:0070576 spermatogenic failure 77 True False False +DOID:0070577 spermatogenic failure 78 True False False +DOID:0070578 spermatogenic failure 79 True False False +DOID:0070579 spermatogenic failure 80 True False False +DOID:0070580 spermatogenic failure 81 True False False +DOID:0070581 spermatogenic failure 82 True False False +DOID:0070582 spermatogenic failure 83 True False False +DOID:0070583 spermatogenic failure 84 True False False +DOID:0070584 spermatogenic failure 85 True False False +DOID:0070585 spermatogenic failure 86 True False False +DOID:0070586 spermatogenic failure 87 True False False +DOID:0070587 spermatogenic failure 88 True False False +DOID:0070588 spermatogenic failure 89 True False False +DOID:0070589 spermatogenic failure 90 True False False +DOID:0070590 spermatogenic failure 91 True False False +DOID:0070591 spermatogenic failure 92 True False False +DOID:0070592 spermatogenic failure 93 True False False +DOID:0070593 spermatogenic failure 94 True False False +DOID:0070594 spermatogenic failure 95 True False False +DOID:0070595 X-linked spermatogenic failure 4 True False False +DOID:0070596 X-linked spermatogenic failure 5 True False False +DOID:0070597 X-linked spermatogenic failure 6 True False False +DOID:0070598 X-linked spermatogenic failure 7 True False False +DOID:0070599 X-linked spermatogenic failure 8 True False False DOID:0080000 muscular disease True False False DOID:0080001 bone disease True False False DOID:0080005 bone remodeling disease True False False @@ -6035,6 +6058,12 @@ DOID:0081451 PFAPA syndrome True False False DOID:0081452 large B-cell lymphoma True False False DOID:0081453 Dent disease 1 True False False DOID:0081454 Dent disease 2 True False False +DOID:0081455 auto-brewery syndrome True False False +DOID:0081456 bladder fermentation syndrome True False False +DOID:0081457 intrathyroid thymic carcinoma True False False +DOID:0081458 thyroid gland cribriform morular carcinoma True False False +DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma True False False +DOID:0081460 thyroid gland mucinous carcinoma True False False DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements True False False DOID:0090001 Fraser syndrome True False False DOID:0090002 Tietz syndrome True False False @@ -8471,7 +8500,7 @@ DOID:0112354 spermatogenic failure 65 True False False DOID:0112355 spermatogenic failure 60 True False False DOID:0112356 spermatogenic failure 63 True False False DOID:0112357 spermatogenic failure 59 True False False -DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies True False False +DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 True False False DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay True False False DOID:0112360 spondylocostal dysostosis 6 True False False DOID:0112361 spondylocostal dysostosis 3 True False False @@ -14121,10 +14150,7 @@ DOID:4481 allergic rhinitis True True False DOID:9415 allergic asthma True True False DOID:0050068 obsolete pestis minor True True True DOID:0050867 obsolete Jensen syndrome True True True -DOID:0060015 obsolete interleukin-7 receptor alpha deficiency True True True -DOID:0081164 obsolete dilated cardiomyopathy 3B True True True DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True True True -DOID:0110578 obsolete autosomal dominant nonsyndromic deafness 52 True True True DOID:10919 obsolete transsexualism True True True DOID:1634 obsolete breast papillomatosis True True True DOID:5209 obsolete benign struma ovarii True True True diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index d801c516..07e0fae0 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -1,54 +1,39 @@ subject_id subject_label -DOID:0070595 X-linked spermatogenic failure 4 -DOID:0070596 X-linked spermatogenic failure 5 -DOID:0070597 X-linked spermatogenic failure 6 -DOID:0070598 X-linked spermatogenic failure 7 -DOID:0070599 X-linked spermatogenic failure 8 DOID:2934 aleutian mink disease -DOID:0081455 auto-brewery syndrome +DOID:0070601 autosomal dominant nonsyndromic deafness 37 +DOID:0070602 autosomal dominant nonsyndromic deafness 80 +DOID:0070608 autosomal dominant nonsyndromic deafness 81 +DOID:0070603 autosomal dominant nonsyndromic deafness 82 +DOID:0070609 autosomal dominant nonsyndromic deafness 83 +DOID:0070604 autosomal dominant nonsyndromic deafness 84 +DOID:0070605 autosomal dominant nonsyndromic deafness 85 +DOID:0070610 autosomal dominant nonsyndromic deafness 86 +DOID:0070606 autosomal dominant nonsyndromic deafness 87 +DOID:0070611 autosomal dominant nonsyndromic deafness 88 +DOID:0070612 autosomal dominant nonsyndromic deafness 89 +DOID:0070607 autosomal dominant nonsyndromic deafness 90 DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 -DOID:0081456 bladder fermentation syndrome +DOID:0060992 bent bone dysplasia syndrome 1 +DOID:0060993 bent bone dysplasia syndrome 2 DOID:5154 borna disease DOID:0060160 childhood spinal muscular atrophy DOID:0111368 cholesterol-ester transfer protein deficiency +DOID:0070614 chromosome 11 partial duplication syndrome DOID:2536 chronic inflammatory demyelinating polyneuritis +DOID:0060991 congenital disorder of deglycosylation +DOID:0060990 congenital disorder of deglycosylation 2 DOID:4668 congenital kyphosis DOID:0070564 dialysis disequilibrium syndrome +DOID:0060984 digenic dyskeratosis congenita +DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 +DOID:0070613 familial renal glucosuria DOID:0050156 idiopathic pulmonary fibrosis -DOID:0081457 intrathyroid thymic carcinoma +DOID:0070600 intellectual disability and myopathy syndrome DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 +DOID:0060988 pancreatic agenesis 2 DOID:146 papilledema DOID:9373 postural kyphosis -DOID:0070565 spermatogenic failure 66 -DOID:0070566 spermatogenic failure 67 -DOID:0070567 spermatogenic failure 68 -DOID:0070568 spermatogenic failure 69 -DOID:0070569 spermatogenic failure 70 -DOID:0070570 spermatogenic failure 71 -DOID:0070571 spermatogenic failure 72 -DOID:0070572 spermatogenic failure 73 -DOID:0070573 spermatogenic failure 74 -DOID:0070574 spermatogenic failure 75 -DOID:0070575 spermatogenic failure 76 -DOID:0070576 spermatogenic failure 77 -DOID:0070577 spermatogenic failure 78 -DOID:0070578 spermatogenic failure 79 -DOID:0070579 spermatogenic failure 80 -DOID:0070580 spermatogenic failure 81 -DOID:0070581 spermatogenic failure 82 -DOID:0070582 spermatogenic failure 83 -DOID:0070583 spermatogenic failure 84 -DOID:0070584 spermatogenic failure 85 -DOID:0070585 spermatogenic failure 86 -DOID:0070586 spermatogenic failure 87 -DOID:0070587 spermatogenic failure 88 -DOID:0070588 spermatogenic failure 89 -DOID:0070589 spermatogenic failure 90 -DOID:0070590 spermatogenic failure 91 -DOID:0070591 spermatogenic failure 92 -DOID:0070592 spermatogenic failure 93 -DOID:0070593 spermatogenic failure 94 -DOID:0070594 spermatogenic failure 95 -DOID:0081458 thyroid gland cribriform morular carcinoma -DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma -DOID:0081460 thyroid gland mucinous carcinoma +DOID:0060987 preaxial polydactyly I +DOID:0060986 preaxial polydactyly II +DOID:0060985 preaxial polydactyly type IV +DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 diff --git a/src/ontology/reports/icd10cm_mapping_status.tsv b/src/ontology/reports/icd10cm_mapping_status.tsv index edee257d..7a8d3140 100644 --- a/src/ontology/reports/icd10cm_mapping_status.tsv +++ b/src/ontology/reports/icd10cm_mapping_status.tsv @@ -10544,8 +10544,6 @@ ICD10CM:I47.0 Re-entry ventricular arrhythmia False False False ICD10CM:I47.1 Supraventricular tachycardia False False False ICD10CM:I47.9 Paroxysmal tachycardia, unspecified False False False ICD10CM:I48 Atrial fibrillation and flutter False False False -ICD10CM:I48.0 Paroxysmal atrial fibrillation False False False -ICD10CM:I48.1 Persistent atrial fibrillation False False False ICD10CM:I48.11 Longstanding persistent atrial fibrillation False False False ICD10CM:I48.19 Other persistent atrial fibrillation False False False ICD10CM:I48.2 Chronic atrial fibrillation False False False @@ -95366,6 +95364,8 @@ ICD10CM:I42.6 Alcoholic cardiomyopathy True False False ICD10CM:I45.81 Long QT syndrome True False False ICD10CM:I46 Cardiac arrest True False False ICD10CM:I47.2 Ventricular tachycardia True False False +ICD10CM:I48.0 Paroxysmal atrial fibrillation True False False +ICD10CM:I48.1 Persistent atrial fibrillation True False False ICD10CM:I49.5 Sick sinus syndrome True False False ICD10CM:I49.8 Other specified cardiac arrhythmias True False False ICD10CM:I60-I69 Cerebrovascular diseases (I60-I69) True False False diff --git a/src/ontology/reports/icd10cm_unmapped_terms.tsv b/src/ontology/reports/icd10cm_unmapped_terms.tsv index 08439600..6875df89 100644 --- a/src/ontology/reports/icd10cm_unmapped_terms.tsv +++ b/src/ontology/reports/icd10cm_unmapped_terms.tsv @@ -52850,7 +52850,6 @@ ICD10CM:H52.522 Paresis of accommodation, left eye ICD10CM:H52.521 Paresis of accommodation, right eye ICD10CM:H52.529 Paresis of accommodation, unspecified eye ICD10CM:G20 Parkinson's disease -ICD10CM:I48.0 Paroxysmal atrial fibrillation ICD10CM:D59.5 Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli] ICD10CM:I47 Paroxysmal tachycardia ICD10CM:I47.9 Paroxysmal tachycardia, unspecified @@ -54440,7 +54439,6 @@ ICD10CM:M76.71 Peroneal tendinitis, right leg ICD10CM:M76.70 Peroneal tendinitis, unspecified leg ICD10CM:E71.50 Peroxisomal disorder, unspecified ICD10CM:E71.5 Peroxisomal disorders -ICD10CM:I48.1 Persistent atrial fibrillation ICD10CM:Q43.7 Persistent cloaca ICD10CM:P29.3 Persistent fetal circulation ICD10CM:E32.0 Persistent hyperplasia of thymus diff --git a/src/ontology/reports/icd11foundation.subclass.added-obsolete.robot.tsv b/src/ontology/reports/icd11foundation.subclass.added-obsolete.robot.tsv index 855bee88..39e96216 100644 --- a/src/ontology/reports/icd11foundation.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/icd11foundation.subclass.added-obsolete.robot.tsv @@ -120,7 +120,6 @@ MONDO:0015824 oculomaxillofacial dysostosis MONDO:0800085 icd11.foundation:92102 MONDO:0015849 longitudinal vaginal septum MONDO:0015848 icd11.foundation:1594393492 icd11.foundation:1699475508 obsolete septate vagina MONDO:0015850 transverse vaginal septum MONDO:0015848 icd11.foundation:1265288464 icd11.foundation:1699475508 obsolete septate vagina MONDO:0015978 functional neutrophil defect MONDO:0015135 icd11.foundation:808756909 icd11.foundation:551037838 obsolete primary immunodeficiency due to a genetic defect in innate immunity -MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0019213 icd11.foundation:896211058 icd11.foundation:1644149132 obsolete cerebral organic aciduria MONDO:0016006 Cockayne syndrome MONDO:0019589 icd11.foundation:1206275070 icd11.foundation:186534168 obsolete syndromic genetic hearing loss MONDO:0016061 immunodeficiency with factor H anomaly MONDO:0015136 icd11.foundation:946399055 icd11.foundation:1222145690 obsolete immunodeficiency due to a genetic complement cascade protein anomaly MONDO:0016530 laryngocele MONDO:0015504 icd11.foundation:360056769 icd11.foundation:2041437327 obsolete larynx anomaly @@ -195,3 +194,4 @@ MONDO:0024304 ichthyosis vulgaris MONDO:0017262 icd11.foundation:841161884 icd11 MONDO:0035252 obsolete anomalous origin of coronary artery from the pulmonary artery MONDO:0015203 icd11.foundation:1862930314 icd11.foundation:902783759 coronary artery congenital malformation MONDO:0035584 punctate inner choroidopathy MONDO:0019541 icd11.foundation:1322994548 icd11.foundation:2140734738 obsolete non-infectious posterior uveitis MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy MONDO:0019541 icd11.foundation:2036282532 icd11.foundation:2140734738 obsolete non-infectious posterior uveitis +MONDO:1030007 hypertensive urgency MONDO:0019213 icd11.foundation:896211058 icd11.foundation:1644149132 obsolete cerebral organic aciduria diff --git a/src/ontology/reports/icd11foundation.subclass.added.robot.tsv b/src/ontology/reports/icd11foundation.subclass.added.robot.tsv index 37da2e45..d639176b 100644 --- a/src/ontology/reports/icd11foundation.subclass.added.robot.tsv +++ b/src/ontology/reports/icd11foundation.subclass.added.robot.tsv @@ -63,6 +63,7 @@ MONDO:0009169 endocardial fibroelastosis MONDO:0000565 icd11.foundation:19710334 MONDO:0009169 endocardial fibroelastosis MONDO:0004994 icd11.foundation:1971033419 icd11.foundation:282225286 cardiomyopathy MONDO:0009192 Wolcott-Rallison syndrome MONDO:0016648 icd11.foundation:2096915129 icd11.foundation:2009123831 multiple epiphyseal dysplasia MONDO:0009240 formiminoglutamic aciduria MONDO:0019228 icd11.foundation:664824338 icd11.foundation:543162269 inborn disorder of histidine metabolism +MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:1030007 icd11.foundation:562958433 icd11.foundation:896211058 hypertensive urgency MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0015131 icd11.foundation:136043326 icd11.foundation:1616506198 combined immunodeficiency MONDO:0009479 Johanson-Blizzard syndrome MONDO:0019287 icd11.foundation:1427330812 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009514 Laurence-Moon syndrome MONDO:0015229 icd11.foundation:458834940 icd11.foundation:255526264 Bardet-Biedl syndrome @@ -85,6 +86,7 @@ MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0017356 icd11.foun MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0019402 icd11.foundation:905057212 icd11.foundation:2063292324 beta thalassemia MONDO:0010797 Pearson syndrome MONDO:0020099 icd11.foundation:452521132 icd11.foundation:789053868 inherited sideroblastic anemia MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0001734 icd11.foundation:1781576728 icd11.foundation:1903085809 tuberous sclerosis +MONDO:0010924 D-2-hydroxyglutaric aciduria MONDO:1030007 icd11.foundation:1170122566 icd11.foundation:896211058 hypertensive urgency MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0001889 icd11.foundation:1216664013 icd11.foundation:1801368748 ovarian dysfunction MONDO:0011979 adult-onset foveomacular vitelliform dystrophy MONDO:0001924 icd11.foundation:558806410 icd11.foundation:1387676300 dystrophies primarily involving the retinal pigment epithelium MONDO:0012126 familial avascular necrosis of femoral head MONDO:0018381 icd11.foundation:1216860745 icd11.foundation:1446309782 osteochondrosis diff --git a/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv b/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv index 12e42a7c..888ae8a3 100644 --- a/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/icd11foundation.subclass.confirmed.robot.tsv @@ -273,7 +273,6 @@ MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency MONDO:0020 MONDO:0009345 histidinemia MONDO:0019228 icd11.foundation:261052955 icd11.foundation:543162269 inborn disorder of histidine metabolism MONDO:0009348 classic Hodgkin lymphoma MONDO:0004952 icd11.foundation:1616050398 icd11.foundation:1528863768 Hodgkins lymphoma MONDO:0009351 homocarnosinosis MONDO:0019232 icd11.foundation:166229372 icd11.foundation:1488430462 inborn disorder of peptide metabolism -MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0016001 icd11.foundation:562958433 icd11.foundation:896211058 2-hydroxyglutaric aciduria MONDO:0009371 3-hydroxyisobutyric aciduria MONDO:0019215 icd11.foundation:1293648631 icd11.foundation:1879509617 classic organic aciduria MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0017350 icd11.foundation:1145853843 icd11.foundation:282654317 inborn disorder of tryptophan metabolism MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0015708 icd11.foundation:2002226225 icd11.foundation:1948303413 immuno-osseous dysplasia @@ -365,7 +364,6 @@ MONDO:0010837 primary hyperparathyroidism MONDO:0001741 icd11.foundation:8171940 MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO:0019287 icd11.foundation:1983176633 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0016894 icd11.foundation:1781576728 icd11.foundation:934406879 partial deletion of the short arm of chromosome 16 MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia MONDO:0017198 icd11.foundation:1434293148 icd11.foundation:1498426606 osteopetrosis -MONDO:0010924 D-2-hydroxyglutaric aciduria MONDO:0016001 icd11.foundation:1170122566 icd11.foundation:896211058 2-hydroxyglutaric aciduria MONDO:0010959 van den Ende-Gupta syndrome MONDO:0015168 icd11.foundation:1740735985 icd11.foundation:1930990330 arthrogryposis multiplex congenita MONDO:0011022 Potocki-Shaffer syndrome MONDO:0016893 icd11.foundation:1587521558 icd11.foundation:127054483 partial deletion of the short arm of chromosome 11 MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0019287 icd11.foundation:612149960 icd11.foundation:1156567558 ectodermal dysplasia syndrome @@ -949,3 +947,4 @@ MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foun MONDO:0850231 erythema nodosum MONDO:0006591 icd11.foundation:1628519266 icd11.foundation:1056888958 panniculitis MONDO:0850420 acute necrotizing pancreatitis MONDO:0006515 icd11.foundation:2063881303 icd11.foundation:698285441 acute pancreatitis MONDO:0968955 hypocalcified amelogenesis imperfecta MONDO:0019507 icd11.foundation:1793262466 icd11.foundation:1923123066 amelogenesis imperfecta +MONDO:1030011 paroxysmal atrial fibrillation MONDO:0004981 icd11.foundation:542703670 icd11.foundation:171698302 atrial fibrillation diff --git a/src/ontology/reports/icd11foundation_mapping_status.tsv b/src/ontology/reports/icd11foundation_mapping_status.tsv index 0dfc13fa..fe395a53 100644 --- a/src/ontology/reports/icd11foundation_mapping_status.tsv +++ b/src/ontology/reports/icd11foundation_mapping_status.tsv @@ -36429,7 +36429,6 @@ icd11.foundation:542589858 Occupant of railway train or railway vehicle injured icd11.foundation:542598098 Phocomelia - ectrodactyly - deafness - sinus arrhythmia False False False icd11.foundation:542652059 Heart dystemperament disorder (TM2) False False False icd11.foundation:542686382 Haematoma of auricle False False False -icd11.foundation:542703670 Paroxysmal atrial fibrillation False False False icd11.foundation:542710494 Drugs medicaments or biological substances associated with injury or harm in therapeutic use, Agents primarily acting on smooth or skeletal muscles or the respiratory system, Other or unspecified agents primarily acting on the respiratory system False False False icd11.foundation:542724831 Unspecified frostbite of trunk, not elsewhere classified False False False icd11.foundation:542743542 Recurrent depressive disorder, current episode severe, without psychotic symptoms, with melancholia False False False @@ -56714,6 +56713,7 @@ icd11.foundation:539409723 Osteocraniostenosis True False False icd11.foundation:540285662 Mucocutaneous lymph node syndrome True False False icd11.foundation:540310468 Amelia of lower limb True False False icd11.foundation:542432712 Isolated glycerol kinase deficiency True False False +icd11.foundation:542703670 Paroxysmal atrial fibrillation True False False icd11.foundation:543162269 Disorders of histidine metabolism True False False icd11.foundation:543218573 Popliteal pterygium syndrome True False False icd11.foundation:543494453 Meckel diverticulitis True False False diff --git a/src/ontology/reports/icd11foundation_unmapped_terms.tsv b/src/ontology/reports/icd11foundation_unmapped_terms.tsv index 275597b4..df603247 100644 --- a/src/ontology/reports/icd11foundation_unmapped_terms.tsv +++ b/src/ontology/reports/icd11foundation_unmapped_terms.tsv @@ -35351,7 +35351,6 @@ icd11.foundation:1033655397 Parotid gland adenitis icd11.foundation:851453031 Parotid gland infection icd11.foundation:1495830927 Parotid region inflammation icd11.foundation:2108588383 Parotitis disorder (TM2) -icd11.foundation:542703670 Paroxysmal atrial fibrillation icd11.foundation:1174035422 Paroxysmal atrial flutter icd11.foundation:1683005789 Paroxysmal autonomic disorders icd11.foundation:799425295 Paroxysmal disorders (TM2) diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index 50ba4b30..f9d36211 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -2510,6 +2510,17 @@ + + + + + + + + + + + @@ -3110,6 +3121,21 @@ + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index d7e5db15..9034b06a 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -4,6 +4,7 @@ + @@ -276,7 +277,9 @@ + + @@ -429,11 +432,14 @@ + + + @@ -641,6 +647,7 @@ + @@ -702,6 +709,7 @@ + @@ -759,6 +767,7 @@ + @@ -767,6 +776,7 @@ + @@ -938,6 +948,7 @@ + @@ -971,6 +982,7 @@ + @@ -989,6 +1001,7 @@ + @@ -1026,6 +1039,7 @@ + @@ -1046,6 +1060,7 @@ + @@ -1057,6 +1072,7 @@ + @@ -1079,11 +1095,13 @@ + + @@ -1106,6 +1124,7 @@ + @@ -1454,6 +1473,7 @@ + @@ -1488,6 +1508,7 @@ + @@ -1547,6 +1568,7 @@ + @@ -1574,6 +1596,7 @@ + @@ -1985,6 +2008,7 @@ + @@ -2032,6 +2056,7 @@ + @@ -2050,6 +2075,7 @@ + @@ -2240,6 +2266,7 @@ + @@ -2443,10 +2470,12 @@ + + @@ -2539,6 +2568,7 @@ + @@ -2754,6 +2784,7 @@ + @@ -2809,6 +2840,7 @@ + @@ -2945,6 +2977,7 @@ + @@ -2977,8 +3010,10 @@ + + @@ -3024,6 +3059,7 @@ + @@ -3334,6 +3370,7 @@ + @@ -3402,6 +3439,8 @@ + + @@ -3469,6 +3508,7 @@ + @@ -3660,10 +3700,12 @@ + + @@ -3674,6 +3716,7 @@ + @@ -3828,6 +3871,7 @@ + @@ -9125,6 +9169,7 @@ + @@ -11022,6 +11067,7 @@ + @@ -11254,6 +11300,7 @@ + @@ -42750,6 +42797,14 @@ + + + + + + + + @@ -44013,6 +44068,12 @@ + + + + + + @@ -44089,6 +44150,7 @@ + @@ -44119,6 +44181,7 @@ + @@ -44152,6 +44215,8 @@ + + @@ -44170,14 +44235,19 @@ + + + + + @@ -46462,6 +46532,12 @@ + + + + + + @@ -46973,6 +47049,7 @@ + @@ -47345,6 +47422,7 @@ + @@ -47791,6 +47869,7 @@ + @@ -48187,6 +48266,7 @@ + @@ -48250,6 +48330,8 @@ + + @@ -48995,6 +49077,7 @@ + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 4b09f95a..23aece0a 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -797,7 +797,6 @@ - @@ -2195,6 +2194,7 @@ + @@ -2776,6 +2776,7 @@ + @@ -33726,6 +33727,23 @@ + + + + + + + + + + + + + + + + + @@ -34018,6 +34036,7 @@ + @@ -34041,6 +34060,7 @@ + @@ -34793,6 +34813,7 @@ + diff --git a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv index 3f0c3f05..92ee3be1 100644 --- a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv @@ -3971,3 +3971,4 @@ MONDO:0700192 chicken hepatoma MONDO:0700189 NCIT:C134558 NCIT:C135005 chicken n MONDO:0700193 chicken monocytic leukemia MONDO:0700189 NCIT:C134945 NCIT:C135005 chicken neoplasm MONDO:0700194 chicken lymphoma MONDO:0700189 NCIT:C135004 NCIT:C135005 chicken neoplasm MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 NCIT:C165671 NCIT:C3746 small cell sarcoma +MONDO:1010030 pediatric high-grade glioma MONDO:0100342 NCIT:C202298 NCIT:C4822 malignant glioma diff --git a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv index 67608aa0..39fe82ed 100644 --- a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv @@ -838,6 +838,7 @@ NCIT:C35111 Posterior Uveitis True False True True NCIT:C99021 Posterior Urethral Valve True False True True NCIT:C34898 Postencephalitic Parkinsonism True False True True NCIT:C27332 Postauricular Lymphadenitis True False True True +NCIT:C119039 Post-Treatment Lyme Disease Syndrome True False True True NCIT:C3389 Post-Traumatic Stress Disorder True False True True NCIT:C35443 Post-Streptococcal Glomerulonephritis True False True True NCIT:C179263 Post-Acute Sequelae of COVID-19 True False True True @@ -1014,6 +1015,7 @@ NCIT:C120192 Partial Androgen Insensitivity Syndrome True False True True NCIT:C34903 Pars Planitis True False True True NCIT:C61233 Paroxysmal Nocturnal Hemoglobinuria True False True True NCIT:C125385 Paroxysmal Extreme Pain Disorder True False True True +NCIT:C80391 Paroxysmal Atrial Fibrillation True False True True NCIT:C114281 Parotitis True False True True NCIT:C79702 Paronychia True False True True NCIT:C26845 Parkinson Disease True False True True @@ -1864,6 +1866,7 @@ NCIT:C98952 Hypertrophic Pyloric Stenosis True False True True NCIT:C34779 Hypertrophic Lichen Planus True False True True NCIT:C34449 Hypertrophic Cardiomyopathy True False True True NCIT:C3123 Hyperthyroidism True False True True +NCIT:C197914 Hypertensive Urgency True False True True NCIT:C3514 Hypertensive Retinopathy True False True True NCIT:C4757 Hypertensive Nephropathy True False True True NCIT:C3503 Hypertensive Encephalopathy True False True True @@ -2673,6 +2676,7 @@ NCIT:C129304 Congenital Myasthenic Syndrome 5 True False True True NCIT:C168997 Congenital Myasthenic Syndrome 12 True False True True NCIT:C84647 Congenital Myasthenic Syndrome True False True True NCIT:C126690 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 True False True True +NCIT:C197881 Congenital Mitral Insufficiency True False True True NCIT:C98898 Congenital Methemoglobinemia True False True True NCIT:C34816 Congenital Metabolic Disorder True False True True NCIT:C99267 Congenital Malformation Syndrome True False True True diff --git a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv index cbc2ffa7..e466f8e6 100644 --- a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -3478 0.0187 +3482 0.0187 diff --git a/src/ontology/reports/ncit_mapping_status.tsv b/src/ontology/reports/ncit_mapping_status.tsv index 12d7ec0a..576b007a 100644 --- a/src/ontology/reports/ncit_mapping_status.tsv +++ b/src/ontology/reports/ncit_mapping_status.tsv @@ -5841,7 +5841,6 @@ NCIT:C202262 Malignant Maxillofacial Neoplasm False False False NCIT:C202263 Rhabdomyosarcoma with TFCP2 Rearrangement False False False NCIT:C202264 Maxillofacial Rhabdomyosarcoma with TFCP2 Rearrangement False False False NCIT:C202265 Jaw Rhabdomyosarcoma with TFCP2 Rearrangement False False False -NCIT:C202298 Childhood Malignant Glioma False False False NCIT:C202299 Childhood Low Grade Glioma False False False NCIT:C202497 Non-Clear Cell Renal Cell Carcinoma False False False NCIT:C202500 Locally Advanced Unresectable Digestive System Adenocarcinoma False False False @@ -37938,7 +37937,6 @@ NCIT:C119035 Undifferentiated Juvenile Idiopathic Arthritis False True False NCIT:C119036 Early Localized Lyme Disease False True False NCIT:C119037 Early Disseminated Lyme Disease False True False NCIT:C119038 Late Disseminated Lyme Disease False True False -NCIT:C119039 Post-Treatment Lyme Disease Syndrome False True False NCIT:C11904 Flavopiridol/irinotecan False True False NCIT:C119040 Persistent Oligoarticular Juvenile Idiopathic Arthritis False True False NCIT:C119041 Extended Oligoarticular Juvenile Idiopathic Arthritis False True False @@ -111129,7 +111127,6 @@ NCIT:C197877 Congenital Iodine Deficiency Syndrome, Myxedematous Type False True NCIT:C197878 Congenital Iodine Deficiency Syndrome, Neurological Type False True False NCIT:C19788 Population Scientist Supplement (R25) False True False NCIT:C197880 Congenital Malformation of Tricuspid Valve False True False -NCIT:C197881 Congenital Mitral Insufficiency False True False NCIT:C197882 Congenital Mitral Stenosis False True False NCIT:C197883 Congenital Non-Progressive Ataxia False True False NCIT:C197884 Congenital Pulmonary Valve Stenosis False True False @@ -111163,7 +111160,6 @@ NCIT:C197910 Graphite Fibrosis of Lung False True False NCIT:C197911 Hepatic Sclerosis False True False NCIT:C197912 Hepatopulmonary Syndrome False True False NCIT:C197913 Hypertensive Emergency False True False -NCIT:C197914 Hypertensive Urgency False True False NCIT:C197915 Idiopathic Normal Pressure Hydrocephalus False True False NCIT:C197916 Hepatic Infarction False True False NCIT:C197917 Diffuse Endemic Goiter False True False @@ -165504,7 +165500,6 @@ NCIT:C80387 Chronic Kidney Disease, Stage 1 False True False NCIT:C80388 Chronic Kidney Disease, Stage 2 False True False NCIT:C80389 Chronic Kidney Disease, Stage 3 False True False NCIT:C80390 Chronic Kidney Disease, Stage 4 False True False -NCIT:C80391 Paroxysmal Atrial Fibrillation False True False NCIT:C80392 Chronic Atrial Fibrillation False True False NCIT:C80395 Date of Myocardial Infarction False True False NCIT:C80396 Date of Cardiac Arrest False True False @@ -184160,6 +184155,7 @@ NCIT:C185639 Canine Oral Melanoma True False False NCIT:C186279 Canine Cutaneous T-Cell Lymphoma True False False NCIT:C188051 Malignant Pylorus Neoplasm True False False NCIT:C189247 SMARCB1-Deficient Kidney Medullary Carcinoma True False False +NCIT:C202298 Childhood Malignant Glioma True False False NCIT:C25765 Secondary Acute Myeloid Leukemia True False False NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder True False False NCIT:C26684 Radiation-Induced Disorder True False False @@ -187898,6 +187894,7 @@ NCIT:C119024 Enthesitis-Related Arthritis True True False NCIT:C119031 Systemic Juvenile Idiopathic Arthritis True True False NCIT:C119032 Oligoarticular Juvenile Idiopathic Arthritis True True False NCIT:C119034 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive True True False +NCIT:C119039 Post-Treatment Lyme Disease Syndrome True True False NCIT:C119042 Chronic Recurrent Multifocal Osteomyelitis True True False NCIT:C119043 NALP12-Associated Hereditary Periodic Fever Syndrome True True False NCIT:C119046 Scleritis True True False @@ -188782,6 +188779,8 @@ NCIT:C187989 Meester-Loeys Syndrome True True False NCIT:C188150 Robertsonian Translocation Down Syndrome True True False NCIT:C188215 Ogden Syndrome True True False NCIT:C188216 Cardiospondylocarpofacial Syndrome True True False +NCIT:C197881 Congenital Mitral Insufficiency True True False +NCIT:C197914 Hypertensive Urgency True True False NCIT:C26685 Placental Abruption True True False NCIT:C26686 Abscess True True False NCIT:C26687 Acanthosis Nigricans True True False @@ -190333,6 +190332,7 @@ NCIT:C79777 Toxic Epidermal Necrolysis True True False NCIT:C79821 Urethral Stricture True True False NCIT:C80078 Chronic Kidney Disease True True False NCIT:C80099 Premature Menopause True True False +NCIT:C80391 Paroxysmal Atrial Fibrillation True True False NCIT:C80444 H1N1 Influenza True True False NCIT:C81315 Phenylketonuria True True False NCIT:C8196 Nasal Cavity and Paranasal Sinus Lethal Midline Granuloma True True False diff --git a/src/ontology/reports/ncit_unmapped_terms.tsv b/src/ontology/reports/ncit_unmapped_terms.tsv index 2e526ca9..4630138b 100644 --- a/src/ontology/reports/ncit_unmapped_terms.tsv +++ b/src/ontology/reports/ncit_unmapped_terms.tsv @@ -2053,7 +2053,6 @@ NCIT:C5448 Childhood Malignant Central Nervous System Neoplasm NCIT:C189870 Childhood Malignant Digestive System Neoplasm NCIT:C190070 Childhood Malignant Endocrine Neoplasm NCIT:C189269 Childhood Malignant Genitourinary System Neoplasm -NCIT:C202298 Childhood Malignant Glioma NCIT:C190121 Childhood Malignant Head and Neck Neoplasm NCIT:C198104 Childhood Malignant Kidney Neoplasm Excluding Renal Cell Carcinoma by Toronto Guidelines v2 Stage NCIT:C198085 Childhood Malignant Kidney Neoplasm Excluding Renal Cell Carcinoma by Toronto Guidelines v2 Stage, Children's Oncology Group (COG) Protocol diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index d61d03b2..4a24d560 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -983,7 +983,6 @@ MONDO:0011888 immunodeficiency 67 MONDO:0021094 OMIM:607676 OMIMPS:300755 immuno MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 OMIM:607681 OMIMPS:121210 febrile seizures, familial MONDO:0011891 febrile seizures, familial, 8 MONDO:0010826 OMIM:607681 OMIMPS:600131 childhood absence epilepsy MONDO:0011891 febrile seizures, familial, 8 MONDO:0018214 OMIM:607681 OMIMPS:604233 generalized epilepsy with febrile seizures plus -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 OMIM:607694 OMIMPS:312080 leukodystrophy MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0017615 OMIM:607745 OMIMPS:601764 benign familial infantile epilepsy MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0018841 OMIM:607765 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 MONDO:0019588 OMIM:607821 OMIMPS:220290 hearing loss, autosomal recessive @@ -1829,7 +1828,6 @@ MONDO:0013716 aortic aneurysm, familial abdominal, 4 MONDO:0007031 OMIM:614375 O MONDO:0013717 asphyxiating thoracic dystrophy 5 MONDO:0018770 OMIM:614376 OMIMPS:208500 Jeune syndrome MONDO:0013718 nephronophthisis 13 MONDO:0019005 OMIM:614377 OMIMPS:256100 nephronophthisis MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 OMIM:614378 OMIMPS:218330 cranioectodermal dysplasia -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 OMIM:614381 OMIMPS:312080 leukodystrophy MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 MONDO:0018630 OMIM:614385 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 OMIM:614388 OMIMPS:614388 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0013731 MEGF10-related myopathy MONDO:0019952 OMIM:614399 OMIMPS:117000 congenital myopathy @@ -1874,7 +1872,7 @@ MONDO:0013794 thrombocythemia 3 MONDO:0019111 OMIM:614521 OMIMPS:187950 familial MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 OMIM:614524 OMIMPS:228520 fibrochondrogenesis MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MONDO:0020066 OMIM:614557 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 OMIM:614565 OMIMPS:310500 congenital stationary night blindness -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0005501 OMIM:614576 OMIMPS:212066 congenital disorder of glycosylation type II +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0005501 OMIM:614576 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 OMIM:614582 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 OMIM:614583 OMIMPS:243310 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0031615 OMIM:614592 OMIMPS:614592 familial bent bone dysplasia syndrome @@ -2339,7 +2337,6 @@ MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy MONDO:0017610 OM MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015364 OMIM:616488 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0014663 Silver-Russell syndrome 3 MONDO:0008394 OMIM:616489 OMIMPS:180860 Silver-Russell syndrome MONDO:0014664 Joubert syndrome 23 MONDO:0018772 OMIM:616490 OMIMPS:213300 Joubert syndrome -MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 OMIM:616494 OMIMPS:312080 leukodystrophy MONDO:0014669 cone-rod dystrophy 21 MONDO:0015993 OMIM:616502 OMIMPS:120970 cone-rod dystrophy MONDO:0014670 lethal congenital contracture syndrome 9 MONDO:0017436 OMIM:616503 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 MONDO:0019588 OMIM:616515 OMIMPS:220290 hearing loss, autosomal recessive @@ -3816,6 +3813,7 @@ MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis MONDO:0021094 OMI MONDO:0975746 spastic paraplegia 92, autosomal recessive MONDO:0019064 OMIM:620911 OMIMPS:303350 hereditary spastic paraplegia MONDO:0975747 spermatogenic failure 95 MONDO:0004983 OMIM:620917 OMIMPS:258150 spermatogenic failure MONDO:0975749 immunodeficiency 125 MONDO:0021094 OMIM:620926 OMIMPS:300755 immunodeficiency disease +MONDO:0975761 immunodeficiency 126, susceptibility to MONDO:0021094 OMIM:620931 OMIMPS:300755 immunodeficiency disease MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index 9d50ef69..ed5c90f8 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -17630,6 +17630,16 @@ OMIM:620933 MONDO:excludeGene OMIM:620934 MONDO:excludeGene OMIM:620935 MONDO:excludeGene OMIM:620936 MONDO:excludeGene +OMIM:620941 MONDO:excludeGene +OMIM:620942 MONDO:excludeGene +OMIM:620944 MONDO:excludeGene +OMIM:620945 MONDO:excludeGene +OMIM:620946 MONDO:excludeGene +OMIM:620948 MONDO:excludeGene +OMIM:620949 MONDO:excludeGene +OMIM:620951 MONDO:excludeGene +OMIM:620954 MONDO:excludeGene +OMIM:620955 MONDO:excludeGene OMIMPS:151623 MONDO:excludeGrouping OMIM:100640 MONDO:excludeNonDisease OMIM:100660 MONDO:excludeNonDisease @@ -24411,7 +24421,6 @@ OMIM:609111 MONDO:excludeNonDisease OMIM:609112 MONDO:excludeNonDisease OMIM:609114 MONDO:excludeNonDisease OMIM:609117 MONDO:excludeNonDisease -OMIM:609119 MONDO:excludeNonDisease OMIM:609120 MONDO:excludeNonDisease OMIM:609121 MONDO:excludeNonDisease OMIM:609123 MONDO:excludeNonDisease @@ -24628,7 +24637,6 @@ OMIM:609503 MONDO:excludeNonDisease OMIM:609504 MONDO:excludeNonDisease OMIM:609505 MONDO:excludeNonDisease OMIM:609509 MONDO:excludeNonDisease -OMIM:609511 MONDO:excludeNonDisease OMIM:609513 MONDO:excludeNonDisease OMIM:609516 MONDO:excludeNonDisease OMIM:609517 MONDO:excludeNonDisease @@ -28210,7 +28218,6 @@ OMIM:616919 MONDO:excludeNonDisease OMIM:616923 MONDO:excludeNonDisease OMIM:616925 MONDO:excludeNonDisease OMIM:616926 MONDO:excludeNonDisease -OMIM:616927 MONDO:excludeNonDisease OMIM:616928 MONDO:excludeNonDisease OMIM:616929 MONDO:excludeNonDisease OMIM:616930 MONDO:excludeNonDisease @@ -30053,6 +30060,16 @@ OMIM:620933 MONDO:excludeNonDisease OMIM:620934 MONDO:excludeNonDisease OMIM:620935 MONDO:excludeNonDisease OMIM:620936 MONDO:excludeNonDisease +OMIM:620941 MONDO:excludeNonDisease +OMIM:620942 MONDO:excludeNonDisease +OMIM:620944 MONDO:excludeNonDisease +OMIM:620945 MONDO:excludeNonDisease +OMIM:620946 MONDO:excludeNonDisease +OMIM:620948 MONDO:excludeNonDisease +OMIM:620949 MONDO:excludeNonDisease +OMIM:620951 MONDO:excludeNonDisease +OMIM:620954 MONDO:excludeNonDisease +OMIM:620955 MONDO:excludeNonDisease OMIM:123270 MONDO:excludePhenotype OMIM:130180 MONDO:excludePhenotype OMIM:131500 MONDO:excludePhenotype @@ -31314,6 +31331,7 @@ OMIM:276410 MONDO:excludeTrait OMIM:276800 MONDO:excludeTrait OMIM:276821 MONDO:excludeTrait OMIM:276822 MONDO:excludeTrait +OMIM:277100 MONDO:excludeTrait OMIM:277175 MONDO:excludeTrait OMIM:277200 MONDO:excludeTrait OMIM:277465 MONDO:excludeTrait @@ -49222,3 +49240,13 @@ OMIM:620933 MONDO:nonDisease OMIM:620934 MONDO:nonDisease OMIM:620935 MONDO:nonDisease OMIM:620936 MONDO:nonDisease +OMIM:620941 MONDO:nonDisease +OMIM:620942 MONDO:nonDisease +OMIM:620944 MONDO:nonDisease +OMIM:620945 MONDO:nonDisease +OMIM:620946 MONDO:nonDisease +OMIM:620948 MONDO:nonDisease +OMIM:620949 MONDO:nonDisease +OMIM:620951 MONDO:nonDisease +OMIM:620954 MONDO:nonDisease +OMIM:620955 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index 543bed42..938563ba 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,5 +1,13 @@ subject_id subject_label is_mapped is_excluded is_deprecated -OMIM:620931 immunodeficiency 126, susceptibility to False False False +OMIM:620937 kariminejad-reversade neurodevelopmental syndrome False False False +OMIM:620938 spastic paraplegia 93, autosomal recessive False False False +OMIM:620939 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities False False False +OMIM:620940 methylmalonic aciduria and homocystinuria, cbll type False False False +OMIM:620943 brain malformation renal syndrome False False False +OMIM:620947 spinocerebellar ataxia 51 False False False +OMIM:620950 encephalopathy, acute transient False False False +OMIMPS:236270 Homocystinuria-megaloblastic anemia False False False +OMIMPS:251000 Methylmalonic aciduria False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -1422,7 +1430,7 @@ OMIM:104240 ST3GAL4 False True False OMIM:104250 ADRA2C False True False OMIM:104260 ADRA2B False True False OMIM:104311 PSEN1 False True False -OMIM:104610 ABP1 False True False +OMIM:104610 AOC1 False True False OMIM:104613 CCT6A False True False OMIM:104614 SLC3A1 False True False OMIM:104615 SLC7A1 False True False @@ -16270,7 +16278,7 @@ OMIM:615660 RPL10A False True False OMIM:615661 PDCD2L False True False OMIM:615662 SERPINB12 False True False OMIM:615664 TESPA1 False True False -OMIM:615666 KIAA1456 False True False +OMIM:615666 TRMT9B False True False OMIM:615667 ERCC6L2 False True False OMIM:615669 EMB False True False OMIM:615671 SETD3 False True False @@ -19041,6 +19049,16 @@ OMIM:620933 PNMA8A False True False OMIM:620934 PNMA8C False True False OMIM:620935 TEX9 False True False OMIM:620936 WDR27 False True False +OMIM:620941 SYNPO2 False True False +OMIM:620942 synpo2 intron sense-overlapping long noncoding RNA False True False +OMIM:620944 ARRDC5 False True False +OMIM:620945 CIMIP4 False True False +OMIM:620946 USP42 False True False +OMIM:620948 UTP6 False True False +OMIM:620949 TOGARAM2 False True False +OMIM:620951 WDR31 False True False +OMIM:620954 TTC6 False True False +OMIM:620955 SNX30 False True False OMIMPS:151623 Li-Fraumeni syndrome False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False @@ -20271,7 +20289,7 @@ OMIM:214150 cerebrooculofacioskeletal syndrome 1 True False False OMIM:214300 klippel-feil syndrome 2, autosomal recessive True False False OMIM:214350 chand syndrome True False False OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers True False False -OMIM:214400 charcot-marie-tooth disease, type 4a True False False +OMIM:214400 charcot-marie-tooth disease, demyelinating, type 4a True False False OMIM:214450 griscelli syndrome, type 1 True False False OMIM:214500 chediak-higashi syndrome True False False OMIM:214700 diarrhea 1, secretory chloride, congenital True False False @@ -21036,7 +21054,6 @@ OMIM:276902 usher syndrome, type 3a True False False OMIM:276904 usher syndrome, type 1c True False False OMIM:276950 vacterl association with hydrocephalus True False False OMIM:277000 mayer-rokitansky-kuster-hauser syndrome True False False -OMIM:277100 valinemia True False False OMIM:277150 van bogaert-hozay syndrome True False False OMIM:277170 orofaciodigital syndrome 6 True False False OMIM:277180 vas deferens, congenital bilateral aplasia of True False False @@ -21776,7 +21793,7 @@ OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 True False Fal OMIM:601363 wilms tumor 4 True False False OMIM:601367 stroke, ischemic True False False OMIM:601369 deafness, autosomal dominant 9 True False False -OMIM:601382 charcot-marie-tooth disease, type 4b1 True False False +OMIM:601382 charcot-marie-tooth disease, demyelinating, type 4b1 True False False OMIM:601386 deafness, autosomal recessive 12 True False False OMIM:601388 type 1 diabetes mellitus 12 True False False OMIM:601390 van maldergem syndrome 1 True False False @@ -21788,7 +21805,7 @@ OMIM:601414 retinitis pigmentosa 18 True False False OMIM:601419 myopathy, myofibrillar, 1 True False False OMIM:601452 oculoauriculofrontonasal syndrome True False False OMIM:601454 psoriasis 3, susceptibility to True False False -OMIM:601455 charcot-marie-tooth disease, type 4d True False False +OMIM:601455 charcot-marie-tooth disease, demyelinating, type 4d True False False OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive True False False OMIM:601458 inflammatory bowel disease 2 True False False OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel True False False @@ -21811,7 +21828,7 @@ OMIM:601552 traboulsi syndrome True False False OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy True False False OMIM:601559 stuve-wiedemann syndrome 1 True False False OMIM:601583 wilms tumor 5 True False False -OMIM:601596 charcot-marie-tooth disease, type 4c True False False +OMIM:601596 charcot-marie-tooth disease, demyelinating, type 4c True False False OMIM:601606 trichoepithelioma, multiple familial, 1 True False False OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome True False False OMIM:601616 iris pigment epithelium anomalies True False False @@ -22083,7 +22100,7 @@ OMIM:604519 inflammatory bowel disease 3 True False False OMIM:604536 ectodermal dysplasia/skin fragility syndrome True False False OMIM:604537 leber congenital amaurosis 5 True False False OMIM:604559 progressive familial heart block, type 1b True False False -OMIM:604563 charcot-marie-tooth disease, type 4b2 True False False +OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 True False False OMIM:604571 mhc class 1 deficiency 1 True False False OMIM:604625 tooth agenesis, selective, 3 True False False OMIM:604715 orthostatic intolerance True False False @@ -22762,7 +22779,7 @@ OMIM:609304 developmental and epileptic encephalopathy 3 True False False OMIM:609306 spinocerebellar ataxia 26 True False False OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 True False False OMIM:609310 lynch syndrome 2 True False False -OMIM:609311 charcot-marie-tooth disease, type 4h True False False +OMIM:609311 charcot-marie-tooth disease, demyelinating, type 4h True False False OMIM:609313 mednik syndrome True False False OMIM:609322 rhabdoid tumor predisposition syndrome 1 True False False OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia True False False @@ -23120,7 +23137,7 @@ OMIM:611185 restless legs syndrome, susceptibility to, 6 True False False OMIM:611209 congenital disorder of glycosylation, type iig True False False OMIM:611222 microphthalmia, syndromic 10 True False False OMIM:611225 spastic paraplegia 18b, autosomal recessive True False False -OMIM:611228 charcot-marie-tooth disease, type 4j True False False +OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j True False False OMIM:611242 restless legs syndrome, susceptibility to, 5 True False False OMIM:611247 major affective disorder 4 True False False OMIM:611252 spastic paraplegia 32, autosomal recessive True False False @@ -24555,7 +24572,7 @@ OMIM:615279 cardiofaciocutaneous syndrome 3 True False False OMIM:615280 cardiofaciocutaneous syndrome 4 True False False OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity True False False OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 True False False -OMIM:615284 charcot-marie-tooth disease, type 4b3 True False False +OMIM:615284 charcot-marie-tooth disease, demyelinating, type 4b3 True False False OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive True False False OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies True False False OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 True False False @@ -25168,7 +25185,7 @@ OMIM:616680 spastic paraplegia 75, autosomal recessive True False False OMIM:616681 microcephaly 16, primary, autosomal recessive True False False OMIM:616682 seizures, scoliosis, and macrocephaly/microcephaly syndrome True False False OMIM:616683 leukodystrophy, hypomyelinating, 12 True False False -OMIM:616684 charcot-marie-tooth disease, type 4k True False False +OMIM:616684 charcot-marie-tooth disease, demyelinating, type 4k True False False OMIM:616685 epilepsy, idiopathic generalized, susceptibility to, 14 True False False OMIM:616687 charcot-marie-tooth disease, axonal, type 2y True False False OMIM:616688 charcot-marie-tooth disease, axonal, type 2z True False False @@ -27216,6 +27233,7 @@ OMIM:620911 spastic paraplegia 92, autosomal recessive True False False OMIM:620917 spermatogenic failure 95 True False False OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to True False False OMIM:620926 immunodeficiency 125 True False False +OMIM:620931 immunodeficiency 126, susceptibility to True False False OMIMPS:100070 Aortic aneurysm, familial abdominal True False False OMIMPS:100300 Adams-Oliver syndrome True False False OMIMPS:101800 Acrodysostosis True False False @@ -29009,6 +29027,7 @@ OMIM:276200 t-substance anomaly True True False OMIM:276800 tyrosinosis True True False OMIM:276821 ulnar hypoplasia with impaired intellectual development True True False OMIM:276822 ulnar agenesis and endocardial fibroelastosis True True False +OMIM:277100 valinemia True True False OMIM:277175 vascular hyalinosis True True False OMIM:277200 right ventricular hypoplasia, isolated True True False OMIM:277465 vitiligo, progressive, with impaired intellectual development and urethral duplication True True False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 7253cd1c..a043a18b 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -3647,6 +3647,7 @@ OMIM:276800 OMIM:276821 OMIM:276822 OMIM:276903 +OMIM:277100 OMIM:277175 OMIM:277200 OMIM:277465 @@ -19327,4 +19328,14 @@ OMIM:620933 OMIM:620934 OMIM:620935 OMIM:620936 +OMIM:620941 +OMIM:620942 +OMIM:620944 +OMIM:620945 +OMIM:620946 +OMIM:620948 +OMIM:620949 +OMIM:620951 +OMIM:620954 +OMIM:620955 OMIMPS:151623 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 84856b57..09d73a76 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,2 +1,10 @@ subject_id subject_label -OMIM:620931 immunodeficiency 126, susceptibility to +OMIMPS:236270 Homocystinuria-megaloblastic anemia +OMIMPS:251000 Methylmalonic aciduria +OMIM:620943 brain malformation renal syndrome +OMIM:620950 encephalopathy, acute transient +OMIM:620937 kariminejad-reversade neurodevelopmental syndrome +OMIM:620940 methylmalonic aciduria and homocystinuria, cbll type +OMIM:620939 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities +OMIM:620938 spastic paraplegia 93, autosomal recessive +OMIM:620947 spinocerebellar ataxia 51 diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 8b6c1de4..17abfeb4 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -4890,7 +4890,6 @@ MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma sy MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0017259 Orphanet:91500 Orphanet:280926 obsolete systemic diseases with anterior uveitis MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0019744 Orphanet:91500 Orphanet:93603 obsolete rare renal tubular disease MONDO:0011888 immunodeficiency 67 MONDO:0015979 Orphanet:70592 Orphanet:183710 obsolete hereditary predisposition to infections -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0017333 Orphanet:137639 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:8000031 Orphanet:137639 Orphanet:557494 obsolete subtype of a disorder MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0020167 Orphanet:2701 Orphanet:98576 obsolete malposition of external canthus MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0021034 Orphanet:2701 Orphanet:481771 obsolete hereditary alopecia @@ -5840,7 +5839,7 @@ MONDO:0013808 Maffucci syndrome MONDO:0016235 Orphanet:163634 Orphanet:211277 ob MONDO:0013808 Maffucci syndrome MONDO:0020063 Orphanet:163634 Orphanet:98196 obsolete malformation syndrome with hamartosis MONDO:0013808 Maffucci syndrome MONDO:0033927 Orphanet:163634 Orphanet:459537 obsolete genetic complex vascular malformation with associated anomalies MONDO:0013808 Maffucci syndrome MONDO:0800089 Orphanet:163634 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0018284 Orphanet:464443 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0018284 Orphanet:464443 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0018157 Orphanet:319509 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO:0013825 congenital diarrhea 6 MONDO:0015184 Orphanet:314373 Orphanet:104009 obsolete rare disease involving intestinal motility MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0019589 Orphanet:280406 Orphanet:90642 obsolete syndromic genetic hearing loss @@ -8921,8 +8920,6 @@ MONDO:0017329 familial vesicoureteral reflux MONDO:0024987 Orphanet:289365 Orpha MONDO:0017329 familial vesicoureteral reflux MONDO:8000032 Orphanet:289365 Orphanet:377789 obsolete malformation syndrome MONDO:0017330 malignancy diagnosed during pregnancy MONDO:0015582 Orphanet:289385 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium MONDO:0017330 malignancy diagnosed during pregnancy MONDO:0032014 Orphanet:289385 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome -MONDO:0017333 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0000001 Orphanet:289494 Orphanet:377788 disease -MONDO:0017333 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0019046 Orphanet:289494 Orphanet:68356 leukodystrophy MONDO:0017334 12q15q21.1 microdeletion syndrome MONDO:8000032 Orphanet:289513 Orphanet:377789 obsolete malformation syndrome MONDO:0017335 microtriplication 11q24.1 MONDO:0035863 Orphanet:289522 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017335 microtriplication 11q24.1 MONDO:8000032 Orphanet:289522 Orphanet:377789 obsolete malformation syndrome @@ -10294,9 +10291,7 @@ MONDO:0018653 Polymerase proofreading-related adenomatous polyposis MONDO:800003 MONDO:0018654 idiopathic dropped head syndrome MONDO:0032013 Orphanet:447881 Orphanet:377792 obsolete clinical syndrome MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0016055 Orphanet:447893 Orphanet:199639 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0017122 Orphanet:447893 Orphanet:269573 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0017333 Orphanet:447893 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:8000031 Orphanet:447893 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0017333 Orphanet:447896 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0018609 Orphanet:447896 Orphanet:441434 obsolete syndromic hereditary optic neuropathy MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:8000031 Orphanet:447896 Orphanet:557494 obsolete subtype of a disorder MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0017671 Orphanet:447961 Orphanet:307804 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature @@ -10966,7 +10961,6 @@ MONDO:0019175 primary lymphedema MONDO:0019043 Orphanet:77240 Orphanet:68346 obs MONDO:0019175 primary lymphedema MONDO:0019519 Orphanet:77240 Orphanet:89826 obsolete rare skin disease MONDO:0019176 obsolete trichorhinophalangeal syndrome type I or III MONDO:0017951 Orphanet:77258 Orphanet:324764 trichorhinophalangeal syndrome MONDO:0019176 obsolete trichorhinophalangeal syndrome type I or III MONDO:8000032 Orphanet:77258 Orphanet:377789 obsolete malformation syndrome -MONDO:0019177 odontoleukodystrophy MONDO:0017333 Orphanet:77295 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0019177 odontoleukodystrophy MONDO:8000031 Orphanet:77295 Orphanet:557494 obsolete subtype of a disorder MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0015335 Orphanet:77300 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0043008 Orphanet:77300 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -11299,8 +11293,8 @@ MONDO:0019503 anterior segment dysgenesis MONDO:0020145 Orphanet:88632 Orphanet: MONDO:0019503 anterior segment dysgenesis MONDO:0026186 Orphanet:88632 Orphanet:183557 obsolete genetic developmental defect of the eye MONDO:0019504 superior limbic keratoconjunctivitis MONDO:0034931 Orphanet:88633 Orphanet:519280 obsolete rare conjunctivitis MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0015890 Orphanet:88637 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism -MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0017333 Orphanet:88637 Orphanet:289494 obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0035862 Orphanet:88637 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0700282 Orphanet:88637 Orphanet:289494 POLR3-related leukodystrophy MONDO:0019505 obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:8000031 Orphanet:88637 Orphanet:557494 obsolete subtype of a disorder MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome MONDO:0015778 Orphanet:88643 Orphanet:177107 obsolete syndromic hypothyroidism MONDO:0019507 amelogenesis imperfecta MONDO:0015603 Orphanet:88661 Orphanet:164001 obsolete rare odontal or periodontal disorder diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index 43232b29..caba5a25 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -645,6 +645,8 @@ MONDO:0013572 Keppen-Lubinsky syndrome MONDO:0015159 Orphanet:435628 Orphanet:10 MONDO:0013574 cutis laxa - Marfanoid syndrome MONDO:0017310 Orphanet:171719 Orphanet:284993 Marfan and Marfan-related disorder MONDO:0013673 Wolfram-like syndrome MONDO:0015967 Orphanet:411590 Orphanet:183625 monogenic diabetes MONDO:0013686 distal myopathy, Tateyama type MONDO:0016146 Orphanet:488650 Orphanet:207078 caveolinopathy +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0015362 Orphanet:397744 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0016108 Orphanet:397744 Orphanet:206650 autosomal dominant distal myopathy MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0700264 Orphanet:300345 Orphanet:477647 type 1 interferonopathy MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0957408 Orphanet:300345 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0015757 Orphanet:268114 Orphanet:171898 lymphoid hemopathy @@ -800,7 +802,6 @@ MONDO:0016063 Cowden disease MONDO:0015185 Orphanet:201 Orphanet:104010 intestin MONDO:0016063 Cowden disease MONDO:0017623 Orphanet:201 Orphanet:306498 PTEN hamartoma tumor syndrome MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0020112 Orphanet:206428 Orphanet:98415 vitamin B12- and folate-independent constitutional megaloblastic anemia MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016147 Orphanet:206546 Orphanet:207085 qualitative or quantitative defects of dystrophin -MONDO:0016113 bulbospinal muscular atrophy MONDO:0024257 Orphanet:206701 Orphanet:98505 hereditary motor neuron disease MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020257 Orphanet:94147 Orphanet:98687 supranuclear oculomotor palsy MONDO:0016222 spindle cell hemangioma MONDO:0971115 Orphanet:210584 Orphanet:673470 benign vascular tumor MONDO:0016223 infantile hemangioma of rare localization MONDO:0971115 Orphanet:210589 Orphanet:673470 benign vascular tumor @@ -941,6 +942,8 @@ MONDO:0018608 pure autonomic failure MONDO:0015914 Orphanet:441 Orphanet:182058 MONDO:0018616 central serous chorioretinopathy MONDO:0957337 Orphanet:443079 Orphanet:519300 isolated chorioretinal dystrophy MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0004907 Orphanet:444 Orphanet:79364 alopecia MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0000001 Orphanet:447740 Orphanet:377788 disease +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0700282 Orphanet:447893 Orphanet:289494 POLR3-related leukodystrophy +MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0700282 Orphanet:447896 Orphanet:289494 POLR3-related leukodystrophy MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0004907 Orphanet:447961 Orphanet:79364 alopecia MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0015356 Orphanet:447961 Orphanet:140162 hereditary neoplastic syndrome MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019287 Orphanet:447961 Orphanet:79373 ectodermal dysplasia syndrome @@ -1009,6 +1012,7 @@ MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:0015159 Orphanet:73223 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0015962 Orphanet:73224 Orphanet:183592 inherited renal tubular disease MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0015159 Orphanet:73230 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0019177 odontoleukodystrophy MONDO:0700282 Orphanet:77295 Orphanet:289494 POLR3-related leukodystrophy MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0019293 Orphanet:774 Orphanet:79379 skin vascular disease MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0850008 Orphanet:782 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations MONDO:0019190 juvenile polyposis of infancy MONDO:0016909 Orphanet:79076 Orphanet:262083 partial monosomy of the long arm of chromosome 10 diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index 672e5ff6..50aabdc2 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -387,7 +387,6 @@ MONDO:0008029 Bethlem myopathy MONDO:0016106 Orphanet:610 Orphanet:206644 progre MONDO:0008039 tropical spastic paraparesis MONDO:0020010 Orphanet:289326 Orphanet:98010 infectious disorder of the nervous system MONDO:0008040 transient myeloproliferative syndrome MONDO:0020076 Orphanet:420611 Orphanet:98274 myeloproliferative neoplasm MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome MONDO:0100309 Orphanet:2589 Orphanet:183518 hereditary ataxia -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0024257 Orphanet:2590 Orphanet:98505 hereditary motor neuron disease MONDO:0008047 episodic ataxia type 1 MONDO:0016227 Orphanet:37612 Orphanet:211062 hereditary episodic ataxia MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0018947 Orphanet:169189 Orphanet:595 centronuclear myopathy MONDO:0008050 MYH7-related skeletal myopathy MONDO:0016195 Orphanet:59135 Orphanet:209185 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) @@ -473,7 +472,6 @@ MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019287 Orphanet:2036 Orphanet:793 MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019294 Orphanet:2036 Orphanet:79380 mixed dermis disorder MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0016187 Orphanet:85146 Orphanet:209041 qualitative or quantitative defects of desmin MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0024257 Orphanet:85146 Orphanet:98505 hereditary motor neuron disease -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0024257 Orphanet:431255 Orphanet:98505 hereditary motor neuron disease MONDO:0008421 flat face-microstomia-ear anomaly syndrome MONDO:0015161 Orphanet:1968 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:0015159 Orphanet:3164 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:0015159 Orphanet:2462 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1537,6 +1535,7 @@ MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0015624 Orphanet:358 MONDO:0011719 gastrointestinal stromal tumor MONDO:0018506 Orphanet:44890 Orphanet:423798 mesenchymal tumor of small intestine MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0016145 Orphanet:178400 Orphanet:207073 qualitative or quantitative defects of dysferlin MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0015159 Orphanet:397973 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0019226 Orphanet:71277 Orphanet:79178 glucose transport disorder MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:0009044 Orphanet:79235 Orphanet:205 Crigler-Najjar syndrome MONDO:0011730 fumaric aciduria MONDO:0016790 Orphanet:24 Orphanet:254749 tricarboxylic acid cycle disorder MONDO:0011731 glucose-galactose malabsorption MONDO:0019226 Orphanet:35710 Orphanet:79178 glucose transport disorder @@ -1583,6 +1582,7 @@ MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 Orphanet:99942 O MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 Orphanet:101084 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 Orphanet:99939 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011895 idiopathic hypereosinophilic syndrome MONDO:0015691 Orphanet:3260 Orphanet:168956 hypereosinophilic syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0700282 Orphanet:137639 Orphanet:289494 POLR3-related leukodystrophy MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0020297 Orphanet:2701 Orphanet:98733 Noonan syndrome and Noonan-related syndrome MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0019011 Orphanet:101085 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0018993 Orphanet:99943 Orphanet:64746 Charcot-Marie-Tooth disease type 2 @@ -1943,8 +1943,6 @@ MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0018446 Orphan MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0019289 Orphanet:79150 Orphanet:79375 hyperpigmentation of the skin MONDO:0013691 Feingold syndrome type 2 MONDO:0015267 Orphanet:391646 Orphanet:1305 Feingold syndrome MONDO:0013692 BAP1-related tumor predisposition syndrome MONDO:0015356 Orphanet:289539 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0015362 Orphanet:397744 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0016108 Orphanet:397744 Orphanet:206650 autosomal dominant distal myopathy MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 Orphanet:330050 Orphanet:527276 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0013731 MEGF10-related myopathy MONDO:0019952 Orphanet:439212 Orphanet:97245 congenital myopathy MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0015159 Orphanet:329332 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1973,7 +1971,7 @@ MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition MONDO:0013808 Maffucci syndrome MONDO:0015356 Orphanet:163634 Orphanet:140162 hereditary neoplastic syndrome MONDO:0013808 Maffucci syndrome MONDO:0019293 Orphanet:163634 Orphanet:79379 skin vascular disease MONDO:0013808 Maffucci syndrome MONDO:0019716 Orphanet:163634 Orphanet:93460 overgrowth syndrome -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0017750 Orphanet:464443 Orphanet:309568 defect in conserved oligomeric Golgi complex +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0017750 Orphanet:464443 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0013813 dystonia 21 MONDO:0000476 Orphanet:306734 Orphanet:376724 generalized dystonia MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0018151 Orphanet:280406 Orphanet:35656 coenzyme Q10 deficiency MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0018151 Orphanet:254898 Orphanet:35656 coenzyme Q10 deficiency @@ -3799,7 +3797,6 @@ MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome MONDO:0018170 Orph MONDO:0019071 pure hair and nail ectodermal dysplasia MONDO:0019287 Orphanet:69084 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0019074 bilateral acute depigmentation of the iris MONDO:0011119 Orphanet:69736 Orphanet:98634 iridogoniodysgenesis MONDO:0019078 Ritscher-Schinzel syndrome MONDO:0015159 Orphanet:7 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019079 proximal spinal muscular atrophy MONDO:0024257 Orphanet:70 Orphanet:98505 hereditary motor neuron disease MONDO:0019080 alopecia totalis MONDO:0004907 Orphanet:700 Orphanet:79364 alopecia MONDO:0019082 bullous pemphigoid MONDO:0019337 Orphanet:703 Orphanet:79669 autoimmune bullous skin disease MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0016511 Orphanet:70596 Orphanet:232035 infectious embryofetopathy @@ -4550,7 +4547,6 @@ MONDO:0037149 HSD10 disease, atypical type MONDO:0010327 Orphanet:85295 Orphanet MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0015168 Orphanet:2547 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0016073 Orphanet:2547 Orphanet:202948 syndromic microphthalmia MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0043009 Orphanet:2547 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0043317 amyopathic dermatomyositis MONDO:0016367 Orphanet:645617 Orphanet:221 dermatomyositis MONDO:0044200 T-B+ severe combined immunodeficiency MONDO:0015974 Orphanet:317416 Orphanet:183660 severe combined immunodeficiency MONDO:0044201 T+ B+ severe combined immunodeficiency MONDO:0015974 Orphanet:397802 Orphanet:183660 severe combined immunodeficiency MONDO:0044202 episodic kinesigenic dyskinesia MONDO:0015427 Orphanet:98809 Orphanet:1431 paroxysmal dyskinesia @@ -4637,6 +4633,7 @@ MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0016894 O MONDO:0100567 hereditary angioedema with normal C1Inh MONDO:0019623 Orphanet:528647 Orphanet:91378 hereditary angioedema MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0015427 Orphanet:98810 Orphanet:1431 paroxysmal dyskinesia MONDO:0700264 type 1 interferonopathy MONDO:0019751 Orphanet:477647 Orphanet:93665 autoinflammatory syndrome +MONDO:0700282 POLR3-related leukodystrophy MONDO:0019046 Orphanet:289494 Orphanet:68356 leukodystrophy MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 Orphanet:313808 Orphanet:68356 leukodystrophy MONDO:0800029 interstitial lung disease 2 MONDO:0002429 Orphanet:2032 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:0019698 Orphanet:3206 Orphanet:93439 bent bone dysplasia diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index c3be4ca0..6eee1bab 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -303,7 +303,6 @@ MONDO:0000849 fibrogenesis imperfecta ossium MONDO:0002254 DOID:0080040 DOID:225 MONDO:0000858 neuronal intestinal dysplasia MONDO:0003409 DOID:0080072 DOID:5353 colonic disorder MONDO:0000859 spina bifida occulta MONDO:0008449 DOID:0080073 DOID:0080016 spina bifida MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0009637 DOID:0080099 DOID:699 inborn mitochondrial myopathy -MONDO:0000866 hereditary myoglobinuria MONDO:0005336 DOID:0080108 DOID:423 myopathy MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004967 DOID:0080144 DOID:9952 acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0000870 DOID:0080145 DOID:0080144 childhood acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004963 DOID:0080145 DOID:5603 T-cell acute lymphoblastic leukemia @@ -621,7 +620,6 @@ MONDO:0001294 Horner syndrome MONDO:0001300 DOID:11486 DOID:11504 autonomic neur MONDO:0001295 idiopathic peripheral autonomic neuropathy MONDO:0001292 DOID:11488 DOID:11465 autonomic nervous system disorder MONDO:0001296 acquired night blindness MONDO:0006873 DOID:11491 DOID:5113 nutritional deficiency disease MONDO:0001297 cardiac tamponade MONDO:0001370 DOID:115 DOID:118 pericardial effusion -MONDO:0001298 congenital mitral valve insufficiency MONDO:0003767 DOID:11502 DOID:61 mitral valve disorder MONDO:0001299 diabetic autonomic neuropathy MONDO:0001300 DOID:11503 DOID:11504 autonomic neuropathy MONDO:0001300 autonomic neuropathy MONDO:0001292 DOID:11504 DOID:11465 autonomic nervous system disorder MONDO:0001300 autonomic neuropathy MONDO:0005244 DOID:0060054 DOID:870 peripheral neuropathy @@ -659,6 +657,7 @@ MONDO:0001339 portal vein thrombosis MONDO:0000831 DOID:11695 DOID:0060903 throm MONDO:0001339 portal vein thrombosis MONDO:0002405 DOID:11695 DOID:272 hepatic vascular disorder MONDO:0001339 portal vein thrombosis MONDO:0004634 DOID:11695 DOID:866 vein disorder MONDO:0001340 heart cancer MONDO:0002100 DOID:117 DOID:176 cardiovascular cancer +MONDO:0001340 heart cancer MONDO:0003274 DOID:117 DOID:5093 thoracic cancer MONDO:0001341 selective IgA deficiency disease MONDO:0001342 DOID:11701 DOID:11702 dysgammaglobulinemia MONDO:0001342 dysgammaglobulinemia MONDO:0003739 DOID:11702 DOID:6025 selective immunoglobulin deficiency disease MONDO:0001345 antidepressant type abuse MONDO:0002491 DOID:11718 DOID:302 substance abuse @@ -801,7 +800,6 @@ MONDO:0001513 pulsating exophthalmos MONDO:0004751 DOID:12364 DOID:930 disease o MONDO:0001514 prolapse of urethra MONDO:0001592 DOID:12369 DOID:1284 prolapse of female genital organ MONDO:0001514 prolapse of urethra MONDO:0004184 DOID:12369 DOID:732 urethral disorder MONDO:0001515 corneal degeneration MONDO:0000942 DOID:1237 DOID:10124 corneal disorder -MONDO:0001516 spinal muscular atrophy MONDO:0020128 DOID:12377 DOID:231 motor neuron disorder MONDO:0001517 dysentery MONDO:0000916 DOID:12384 DOID:100 intestinal infectious disease MONDO:0001518 spastic entropion MONDO:0001519 DOID:12395 DOID:12397 entropion MONDO:0001519 entropion MONDO:0003382 DOID:12397 DOID:530 eyelid disorder @@ -4208,7 +4206,6 @@ MONDO:0007243 Burkitt lymphoma MONDO:0004949 DOID:8584 DOID:706 neoplasm of matu MONDO:0007244 Caffey disease MONDO:0002614 DOID:4257 DOID:3342 bone inflammation disease MONDO:0007251 campomelic dysplasia MONDO:0005516 DOID:0050463 DOID:2256 osteochondrodysplasia MONDO:0007252 Gordon syndrome MONDO:0019942 DOID:0111607 DOID:0050646 distal arthrogryposis -MONDO:0007254 breast cancer MONDO:0003274 DOID:1612 DOID:5093 thoracic cancer MONDO:0007265 cardiofaciocutaneous syndrome 1 MONDO:0015280 DOID:0111460 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0007266 hypertrophic cardiomyopathy 2 MONDO:0024573 DOID:0110308 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0007267 hypertrophic cardiomyopathy 3 MONDO:0024573 DOID:0110309 DOID:0080326 familial hypertrophic cardiomyopathy @@ -5545,7 +5542,6 @@ MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 DOID:0110158 DOI MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 DOID:0110150 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 DOID:0111298 DOID:0111297 febrile seizures, familial MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 DOID:0110165 DOID:0050539 Charcot-Marie-Tooth disease type 2 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 DOID:0060794 DOID:0060786 leukodystrophy MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0018993 DOID:0110166 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0019011 DOID:0110149 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0018993 DOID:0110157 DOID:0050539 Charcot-Marie-Tooth disease type 2 @@ -6212,7 +6208,6 @@ MONDO:0013709 intellectual disability, autosomal recessive 28 MONDO:0019502 DOID MONDO:0013717 asphyxiating thoracic dystrophy 5 MONDO:0018770 DOID:0110089 DOID:0050592 Jeune syndrome MONDO:0013718 nephronophthisis 13 MONDO:0019005 DOID:0111121 DOID:12712 nephronophthisis MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 DOID:0080806 DOID:0050577 cranioectodermal dysplasia -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 DOID:0060797 DOID:0060786 leukodystrophy MONDO:0013730 graft versus host disease MONDO:0005046 DOID:0081267 DOID:2914 immune system disorder MONDO:0013731 MEGF10-related myopathy MONDO:0019952 DOID:0111333 DOID:0081337 congenital myopathy MONDO:0013734 microphthalmia, syndromic 11 MONDO:0016073 DOID:0111804 DOID:0080636 syndromic microphthalmia @@ -6237,7 +6232,7 @@ MONDO:0013788 Usher syndrome type 3B MONDO:0016485 DOID:0110842 DOID:0110828 Ush MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0005500 DOID:0080569 DOID:0050570 congenital disorder of glycosylation type I MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 DOID:0080673 DOID:0060465 fibrochondrogenesis MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 DOID:0110869 DOID:0050534 congenital stationary night blindness -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0005501 DOID:0070264 DOID:0050571 congenital disorder of glycosylation type II +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0005501 DOID:0070264 DOID:0050571 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 DOID:0111472 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 DOID:0081113 DOID:0060229 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0013818 trichohepatoenteric syndrome 2 MONDO:0009105 DOID:0111416 DOID:0111414 trichohepatoenteric syndrome @@ -6583,7 +6578,6 @@ MONDO:0014660 microcephaly 15, primary, autosomal recessive MONDO:0016660 DOID:0 MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015364 DOID:0070153 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0014664 Joubert syndrome 23 MONDO:0018772 DOID:0110992 DOID:0050777 Joubert syndrome MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0018993 DOID:0110178 DOID:0050539 Charcot-Marie-Tooth disease type 2 -MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 DOID:0060792 DOID:0060786 leukodystrophy MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0015487 DOID:0080359 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0015487 DOID:0080360 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0014669 cone-rod dystrophy 21 MONDO:0015993 DOID:0081447 DOID:0050572 cone-rod dystrophy @@ -7355,6 +7349,7 @@ MONDO:0024622 thyroid gland adenocarcinoma MONDO:0015075 DOID:0080524 DOID:3963 MONDO:0024647 urolithiasis MONDO:0002118 DOID:0080653 DOID:18 urinary system disorder MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0002400 DOID:2702 DOID:2703 synovitis MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:0020119 DOID:0070422 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0024773 spermatogenic failure, X-linked, 4 MONDO:0004983 DOID:0070595 DOID:0111910 spermatogenic failure MONDO:0024988 sex cord-stromal benign neoplasm MONDO:0000383 DOID:0080368 DOID:0050622 benign reproductive system neoplasm MONDO:0025353 developmental and epileptic encephalopathy, 90 MONDO:0100062 DOID:0070381 DOID:0112202 developmental and epileptic encephalopathy MONDO:0025354 spermatogenic failure, X-linked, 3 MONDO:0004983 DOID:0112274 DOID:0111910 spermatogenic failure @@ -7450,9 +7445,15 @@ MONDO:0030701 autoimmune cardiomyopathy MONDO:0000603 DOID:0040095 DOID:0060051 MONDO:0030702 autoimmune atherosclerosis MONDO:0000603 DOID:0040096 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0030703 autoimmune vasculitis MONDO:0000603 DOID:0040097 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0030712 oculopharyngodistal myopathy 4 MONDO:0025193 DOID:0081300 DOID:0081296 oculopharyngodistal myopathy +MONDO:0030721 spermatogenic failure 68 MONDO:0004983 DOID:0070567 DOID:0111910 spermatogenic failure MONDO:0030727 developmental and epileptic encephalopathy 101 MONDO:0100062 DOID:0070387 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0030732 spermatogenic failure 69 MONDO:0004983 DOID:0070568 DOID:0111910 spermatogenic failure +MONDO:0030733 spermatogenic failure 70 MONDO:0004983 DOID:0070569 DOID:0111910 spermatogenic failure MONDO:0030781 restrictive dermopathy 2 MONDO:0031213 DOID:0070370 DOID:0060762 restrictive dermopathy MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly MONDO:0019502 DOID:0081234 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0030787 spermatogenic failure 71 MONDO:0004983 DOID:0070570 DOID:0111910 spermatogenic failure +MONDO:0030809 spermatogenic failure 72 MONDO:0004983 DOID:0070571 DOID:0111910 spermatogenic failure +MONDO:0030818 spermatogenic failure 73 MONDO:0004983 DOID:0070572 DOID:0111910 spermatogenic failure MONDO:0030844 spermatogenic failure 47 MONDO:0004983 DOID:0112175 DOID:0111910 spermatogenic failure MONDO:0030846 spermatogenic failure 48 MONDO:0004983 DOID:0112176 DOID:0111910 spermatogenic failure MONDO:0030856 developmental and epileptic encephalopathy 89 MONDO:0100062 DOID:0112223 DOID:0112202 developmental and epileptic encephalopathy @@ -7486,7 +7487,9 @@ MONDO:0030938 spermatogenic failure 52 MONDO:0004983 DOID:0112270 DOID:0111910 s MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0100062 DOID:0070389 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030962 nephrotic syndrome, type 23 MONDO:0002350 DOID:0112266 DOID:2590 familial nephrotic syndrome MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 DOID:0081235 DOID:0060308 autosomal recessive non-syndromic intellectual disability +MONDO:0030972 spermatogenic failure 74 MONDO:0004983 DOID:0070573 DOID:0111910 spermatogenic failure MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0015363 DOID:0081426 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive +MONDO:0030984 spermatogenic failure 75 MONDO:0004983 DOID:0070574 DOID:0111910 spermatogenic failure MONDO:0030989 spermatogenic failure 53 MONDO:0004983 DOID:0112279 DOID:0111910 spermatogenic failure MONDO:0031012 autoimmune uveitis MONDO:0000587 DOID:0040088 DOID:0060030 autoimmune disease of ear, nose and throat MONDO:0031013 autoimmune optic neuritis MONDO:0000590 DOID:0040089 DOID:0060033 autoimmune disorder of peripheral nervous system @@ -7498,6 +7501,8 @@ MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 MONDO: MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0100062 DOID:0070392 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0100062 DOID:0070393 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031062 polycystic kidney disease 7 MONDO:0004691 DOID:0060952 DOID:898 autosomal dominant polycystic kidney disease +MONDO:0031077 spermatogenic failure 76 MONDO:0004983 DOID:0070575 DOID:0111910 spermatogenic failure +MONDO:0031083 spermatogenic failure 77 MONDO:0004983 DOID:0070576 DOID:0111910 spermatogenic failure MONDO:0031084 amelogenesis imperfecta, IIa 1K MONDO:0019507 DOID:0060945 DOID:2187 amelogenesis imperfecta MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0002254 DOID:0081072 DOID:225 syndromic disease MONDO:0032526 spinocerebellar ataxia 48 MONDO:0020380 DOID:0111746 DOID:1441 autosomal dominant cerebellar ataxia @@ -7891,7 +7896,6 @@ MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:008 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy -MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:0060728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita MONDO:0800372 Joubert syndrome 29 MONDO:0018772 DOID:0080276 DOID:0050777 Joubert syndrome MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 DOID:0081124 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome @@ -8014,7 +8018,6 @@ MONDO:0858916 pituitary blastoma MONDO:0005565 DOID:0081244 DOID:0070003 blastom MONDO:0858917 cauda equina neuroendocrine tumor MONDO:0003164 DOID:0081245 DOID:4847 cauda equina neoplasm MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 DOID:0081249 DOID:3098 small cell sarcoma MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome MONDO:0002254 DOID:0081264 DOID:225 syndromic disease -MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype MONDO:0100342 DOID:0081277 DOID:3070 malignant glioma MONDO:0858940 infant-type hemispheric glioma MONDO:0021636 DOID:0081278 DOID:3069 astrocytic tumor MONDO:0858944 myxoid glioneuronal tumor MONDO:0000628 DOID:0081285 DOID:0060090 central nervous system organ benign neoplasm MONDO:0858956 diffuse leptomeningeal glioneuronal tumor MONDO:0000628 DOID:0081302 DOID:0060090 central nervous system organ benign neoplasm @@ -8042,16 +8045,22 @@ MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MO MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 DOID:0060981 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0859338 spermatogenic failure 78 MONDO:0004983 DOID:0070577 DOID:0111910 spermatogenic failure MONDO:0859341 hypotrichosis 15 MONDO:0003037 DOID:0060968 DOID:4535 hypotrichosis MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 DOID:0060982 DOID:0080688 mosaic variegated aneuploidy syndrome +MONDO:0859352 spermatogenic failure 79 MONDO:0004983 DOID:0070578 DOID:0111910 spermatogenic failure MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia +MONDO:0859364 spermatogenic failure 80 MONDO:0004983 DOID:0070579 DOID:0111910 spermatogenic failure MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0019046 DOID:0070401 DOID:0060786 leukodystrophy +MONDO:0859477 spermatogenic failure, X-linked, 5 MONDO:0004983 DOID:0070596 DOID:0111910 spermatogenic failure +MONDO:0859478 spermatogenic failure, X-linked, 6 MONDO:0004983 DOID:0070597 DOID:0111910 spermatogenic failure MONDO:0859514 congenital myopathy 18 MONDO:0019952 DOID:0081350 DOID:0081337 congenital myopathy MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0019952 DOID:0081345 DOID:0081337 congenital myopathy MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0019952 DOID:0081339 DOID:0081337 congenital myopathy MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0019046 DOID:0070403 DOID:0060786 leukodystrophy +MONDO:0859522 spermatogenic failure 81 MONDO:0004983 DOID:0070580 DOID:0111910 spermatogenic failure MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0019952 DOID:0081340 DOID:0081337 congenital myopathy MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 DOID:0081125 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0859568 macular dystrophy, retinal, 4 MONDO:0031166 DOID:0070441 DOID:0070438 macular dystrophy, retinal @@ -8095,6 +8104,7 @@ MONDO:0956994 astrocytoma, IDH-mutant, grade 2 MONDO:0850332 DOID:0081256 DOID:0 MONDO:0956995 astrocytoma, IDH-mutant, grade 3 MONDO:0850332 DOID:0081257 DOID:0080875 IDH-mutant anaplastic astrocytoma MONDO:0956996 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 MONDO:0859592 DOID:0081281 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma MONDO:0956997 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 MONDO:0859592 DOID:0081282 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma +MONDO:0957202 spermatogenic failure, X-linked, 7 MONDO:0004983 DOID:0070598 DOID:0111910 spermatogenic failure MONDO:0957203 intellectual developmental disorder, X-linked 111 MONDO:0019181 DOID:0060929 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0957215 congenital myopathy 20 MONDO:0019952 DOID:0081352 DOID:0081337 congenital myopathy MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0019064 DOID:0070454 DOID:2476 hereditary spastic paraplegia @@ -8102,16 +8112,22 @@ MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:001995 MONDO:0957240 cone-rod dystrophy 24 MONDO:0015993 DOID:0081449 DOID:0050572 cone-rod dystrophy MONDO:0957247 congenital myopathy 22A, classic MONDO:0019952 DOID:0081354 DOID:0081337 congenital myopathy MONDO:0957248 developmental and epileptic encephalopathy, 31B MONDO:0100062 DOID:0070376 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0957249 spermatogenic failure 82 MONDO:0004983 DOID:0070581 DOID:0111910 spermatogenic failure +MONDO:0957250 spermatogenic failure 83 MONDO:0004983 DOID:0070582 DOID:0111910 spermatogenic failure MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0014471 DOID:0070464 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 DOID:0081355 DOID:0081337 congenital myopathy MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 DOID:0070458 DOID:2476 hereditary spastic paraplegia MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 DOID:0081374 DOID:3191 nemaline myopathy MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 DOID:0081375 DOID:3191 nemaline myopathy +MONDO:0957301 spermatogenic failure 84 MONDO:0004983 DOID:0070583 DOID:0111910 spermatogenic failure MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 DOID:0070551 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 DOID:0070459 DOID:2476 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 DOID:0070460 DOID:2476 hereditary spastic paraplegia MONDO:0957519 diffuse gastric cancer MONDO:0001056 DOID:0080763 DOID:10534 gastric cancer MONDO:0957524 COX deficiency, benign infantile mitochondrial myopathy MONDO:0009068 DOID:0081377 DOID:3762 cytochrome-c oxidase deficiency disease +MONDO:0957593 spermatogenic failure 86 MONDO:0004983 DOID:0070585 DOID:0111910 spermatogenic failure +MONDO:0957594 spermatogenic failure 87 MONDO:0004983 DOID:0070586 DOID:0111910 spermatogenic failure +MONDO:0957821 spermatogenic failure 88 MONDO:0004983 DOID:0070587 DOID:0111910 spermatogenic failure MONDO:0957870 leukoencephalopathy with vanishing white matter 2 MONDO:0800448 DOID:0070373 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957871 leukoencephalopathy with vanishing white matter 3 MONDO:0800448 DOID:0070372 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957872 leukoencephalopathy with vanishing white matter 4 MONDO:0800448 DOID:0070371 DOID:0060868 leukoencephalopathy with vanishing white matter @@ -8134,9 +8150,11 @@ MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 DOID MONDO:0958184 epidermolytic hyperkeratosis 2 MONDO:0007239 DOID:0081359 DOID:4603 epidermolytic ichthyosis MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 DOID:0070366 DOID:2512 nevoid basal cell carcinoma syndrome MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 DOID:0070364 DOID:0050335 bradyopsia +MONDO:0958206 spermatogenic failure 89 MONDO:0004983 DOID:0070588 DOID:0111910 spermatogenic failure MONDO:0958230 orofaciodigital syndrome 20 MONDO:0015375 DOID:0060962 DOID:4501 orofaciodigital syndrome MONDO:0958235 Ullrich congenital muscular dystrophy 1B MONDO:0000355 DOID:0060942 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958236 Ullrich congenital muscular dystrophy 1C MONDO:0000355 DOID:0060943 DOID:0050558 Ullrich congenital muscular dystrophy +MONDO:0958242 spermatogenic failure 90 MONDO:0004983 DOID:0070589 DOID:0111910 spermatogenic failure MONDO:0958295 BCOR ITD sarcoma MONDO:0958159 DOID:0081403 DOID:0081402 sarcoma with BCOR genetic alterations MONDO:0958296 BCOR-CCNB3 sarcoma MONDO:0958159 DOID:0081404 DOID:0081402 sarcoma with BCOR genetic alterations MONDO:0958297 childhood sarcoma with BCOR genetic alterations MONDO:0958159 DOID:0081405 DOID:0081402 sarcoma with BCOR genetic alterations @@ -8148,7 +8166,20 @@ MONDO:0958302 TFEB-rearranged renal cell carcinoma MONDO:0017886 DOID:0081414 DO MONDO:0958303 childhood renal cell carcinoma with MiT translocations MONDO:0017886 DOID:0081416 DOID:0081413 MIT family translocation renal cell carcinoma MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 DOID:0060947 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0968974 large B-cell lymphoma MONDO:0004095 DOID:0081452 DOID:707 B-cell neoplasm +MONDO:0970943 spermatogenic failure, x-linked, 8 MONDO:0004983 DOID:0070599 DOID:0111910 spermatogenic failure MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0100062 DOID:0070545 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0970952 spermatogenic failure 91 MONDO:0004983 DOID:0070590 DOID:0111910 spermatogenic failure +MONDO:0970999 spermatogenic failure 92 MONDO:0004983 DOID:0070591 DOID:0111910 spermatogenic failure +MONDO:0971000 spermatogenic failure 93 MONDO:0004983 DOID:0070592 DOID:0111910 spermatogenic failure +MONDO:0971002 spermatogenic failure 94 MONDO:0004983 DOID:0070593 DOID:0111910 spermatogenic failure +MONDO:0971031 auto-brewery syndrome MONDO:0006504 DOID:0081455 DOID:0060158 acquired metabolic disease +MONDO:0971032 bladder fermentation syndrome MONDO:0006504 DOID:0081456 DOID:0060158 acquired metabolic disease +MONDO:0971033 intrathyroid thymic carcinoma MONDO:0015075 DOID:0081457 DOID:3963 thyroid gland carcinoma +MONDO:0971034 thyroid gland cribriform morular carcinoma MONDO:0015075 DOID:0081458 DOID:3963 thyroid gland carcinoma +MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma MONDO:0015075 DOID:0081459 DOID:3963 thyroid gland carcinoma +MONDO:0971036 thyroid gland mucinous carcinoma MONDO:0015075 DOID:0081460 DOID:3963 thyroid gland carcinoma +MONDO:0975747 spermatogenic failure 95 MONDO:0004983 DOID:0070594 DOID:0111910 spermatogenic failure +MONDO:1030008 mitral valve insufficiency MONDO:0003767 DOID:11502 DOID:61 mitral valve disorder MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0000858 DOID:0080679 DOID:0080072 neuronal intestinal dysplasia MONDO:8000018 benign paroxysmal positional vertigo MONDO:0004900 DOID:13941 DOID:9847 peripheral vertigo MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0017979 DOID:0110119 DOID:6688 autoimmune lymphoproliferative syndrome @@ -8565,7 +8596,6 @@ MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency MONDO:0020 MONDO:0009345 histidinemia MONDO:0019228 icd11.foundation:261052955 icd11.foundation:543162269 inborn disorder of histidine metabolism MONDO:0009348 classic Hodgkin lymphoma MONDO:0004952 icd11.foundation:1616050398 icd11.foundation:1528863768 Hodgkins lymphoma MONDO:0009351 homocarnosinosis MONDO:0019232 icd11.foundation:166229372 icd11.foundation:1488430462 inborn disorder of peptide metabolism -MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0016001 icd11.foundation:562958433 icd11.foundation:896211058 2-hydroxyglutaric aciduria MONDO:0009371 3-hydroxyisobutyric aciduria MONDO:0019215 icd11.foundation:1293648631 icd11.foundation:1879509617 classic organic aciduria MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0017350 icd11.foundation:1145853843 icd11.foundation:282654317 inborn disorder of tryptophan metabolism MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0015708 icd11.foundation:2002226225 icd11.foundation:1948303413 immuno-osseous dysplasia @@ -8657,7 +8687,6 @@ MONDO:0010837 primary hyperparathyroidism MONDO:0001741 icd11.foundation:8171940 MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO:0019287 icd11.foundation:1983176633 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0016894 icd11.foundation:1781576728 icd11.foundation:934406879 partial deletion of the short arm of chromosome 16 MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia MONDO:0017198 icd11.foundation:1434293148 icd11.foundation:1498426606 osteopetrosis -MONDO:0010924 D-2-hydroxyglutaric aciduria MONDO:0016001 icd11.foundation:1170122566 icd11.foundation:896211058 2-hydroxyglutaric aciduria MONDO:0010959 van den Ende-Gupta syndrome MONDO:0015168 icd11.foundation:1740735985 icd11.foundation:1930990330 arthrogryposis multiplex congenita MONDO:0011022 Potocki-Shaffer syndrome MONDO:0016893 icd11.foundation:1587521558 icd11.foundation:127054483 partial deletion of the short arm of chromosome 11 MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0019287 icd11.foundation:612149960 icd11.foundation:1156567558 ectodermal dysplasia syndrome @@ -9241,6 +9270,7 @@ MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foun MONDO:0850231 erythema nodosum MONDO:0006591 icd11.foundation:1628519266 icd11.foundation:1056888958 panniculitis MONDO:0850420 acute necrotizing pancreatitis MONDO:0006515 icd11.foundation:2063881303 icd11.foundation:698285441 acute pancreatitis MONDO:0968955 hypocalcified amelogenesis imperfecta MONDO:0019507 icd11.foundation:1793262466 icd11.foundation:1923123066 amelogenesis imperfecta +MONDO:1030011 paroxysmal atrial fibrillation MONDO:0004981 icd11.foundation:542703670 icd11.foundation:171698302 atrial fibrillation MONDO:0000147 polyposis MONDO:0021075 NCIT:C4089 NCIT:C7068 neoplastic polyp MONDO:0000371 oral cavity carcinoma in situ MONDO:0044925 NCIT:C4587 NCIT:C8990 oral cavity carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0004647 NCIT:C4942 NCIT:C2917 in situ carcinoma @@ -13212,6 +13242,7 @@ MONDO:0700192 chicken hepatoma MONDO:0700189 NCIT:C134558 NCIT:C135005 chicken n MONDO:0700193 chicken monocytic leukemia MONDO:0700189 NCIT:C134945 NCIT:C135005 chicken neoplasm MONDO:0700194 chicken lymphoma MONDO:0700189 NCIT:C135004 NCIT:C135005 chicken neoplasm MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 NCIT:C165671 NCIT:C3746 small cell sarcoma +MONDO:1010030 pediatric high-grade glioma MONDO:0100342 NCIT:C202298 NCIT:C4822 malignant glioma MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0800450 OMIM:616033 OMIMPS:616033 microcephaly, short stature, and impaired glucose metabolism MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO:0016342 OMIM:615616 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0000910 retinitis pigmentosa 6 MONDO:0019200 OMIM:312612 OMIMPS:268000 retinitis pigmentosa @@ -14195,7 +14226,6 @@ MONDO:0011888 immunodeficiency 67 MONDO:0021094 OMIM:607676 OMIMPS:300755 immuno MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 OMIM:607681 OMIMPS:121210 febrile seizures, familial MONDO:0011891 febrile seizures, familial, 8 MONDO:0010826 OMIM:607681 OMIMPS:600131 childhood absence epilepsy MONDO:0011891 febrile seizures, familial, 8 MONDO:0018214 OMIM:607681 OMIMPS:604233 generalized epilepsy with febrile seizures plus -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 OMIM:607694 OMIMPS:312080 leukodystrophy MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0017615 OMIM:607745 OMIMPS:601764 benign familial infantile epilepsy MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0018841 OMIM:607765 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 MONDO:0019588 OMIM:607821 OMIMPS:220290 hearing loss, autosomal recessive @@ -15041,7 +15071,6 @@ MONDO:0013716 aortic aneurysm, familial abdominal, 4 MONDO:0007031 OMIM:614375 O MONDO:0013717 asphyxiating thoracic dystrophy 5 MONDO:0018770 OMIM:614376 OMIMPS:208500 Jeune syndrome MONDO:0013718 nephronophthisis 13 MONDO:0019005 OMIM:614377 OMIMPS:256100 nephronophthisis MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 OMIM:614378 OMIMPS:218330 cranioectodermal dysplasia -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 OMIM:614381 OMIMPS:312080 leukodystrophy MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 MONDO:0018630 OMIM:614385 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 OMIM:614388 OMIMPS:614388 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0013731 MEGF10-related myopathy MONDO:0019952 OMIM:614399 OMIMPS:117000 congenital myopathy @@ -15086,7 +15115,7 @@ MONDO:0013794 thrombocythemia 3 MONDO:0019111 OMIM:614521 OMIMPS:187950 familial MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 OMIM:614524 OMIMPS:228520 fibrochondrogenesis MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MONDO:0020066 OMIM:614557 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 OMIM:614565 OMIMPS:310500 congenital stationary night blindness -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0005501 OMIM:614576 OMIMPS:212066 congenital disorder of glycosylation type II +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0005501 OMIM:614576 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 OMIM:614582 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 OMIM:614583 OMIMPS:243310 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0031615 OMIM:614592 OMIMPS:614592 familial bent bone dysplasia syndrome @@ -15551,7 +15580,6 @@ MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy MONDO:0017610 OM MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015364 OMIM:616488 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0014663 Silver-Russell syndrome 3 MONDO:0008394 OMIM:616489 OMIMPS:180860 Silver-Russell syndrome MONDO:0014664 Joubert syndrome 23 MONDO:0018772 OMIM:616490 OMIMPS:213300 Joubert syndrome -MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 OMIM:616494 OMIMPS:312080 leukodystrophy MONDO:0014669 cone-rod dystrophy 21 MONDO:0015993 OMIM:616502 OMIMPS:120970 cone-rod dystrophy MONDO:0014670 lethal congenital contracture syndrome 9 MONDO:0017436 OMIM:616503 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 MONDO:0019588 OMIM:616515 OMIMPS:220290 hearing loss, autosomal recessive @@ -17028,6 +17056,7 @@ MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis MONDO:0021094 OMI MONDO:0975746 spastic paraplegia 92, autosomal recessive MONDO:0019064 OMIM:620911 OMIMPS:303350 hereditary spastic paraplegia MONDO:0975747 spermatogenic failure 95 MONDO:0004983 OMIM:620917 OMIMPS:258150 spermatogenic failure MONDO:0975749 immunodeficiency 125 MONDO:0021094 OMIM:620926 OMIMPS:300755 immunodeficiency disease +MONDO:0975761 immunodeficiency 126, susceptibility to MONDO:0021094 OMIM:620931 OMIMPS:300755 immunodeficiency disease MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial @@ -17421,7 +17450,6 @@ MONDO:0008029 Bethlem myopathy MONDO:0016106 Orphanet:610 Orphanet:206644 progre MONDO:0008039 tropical spastic paraparesis MONDO:0020010 Orphanet:289326 Orphanet:98010 infectious disorder of the nervous system MONDO:0008040 transient myeloproliferative syndrome MONDO:0020076 Orphanet:420611 Orphanet:98274 myeloproliferative neoplasm MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome MONDO:0100309 Orphanet:2589 Orphanet:183518 hereditary ataxia -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0024257 Orphanet:2590 Orphanet:98505 hereditary motor neuron disease MONDO:0008047 episodic ataxia type 1 MONDO:0016227 Orphanet:37612 Orphanet:211062 hereditary episodic ataxia MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0018947 Orphanet:169189 Orphanet:595 centronuclear myopathy MONDO:0008050 MYH7-related skeletal myopathy MONDO:0016195 Orphanet:59135 Orphanet:209185 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) @@ -17507,7 +17535,6 @@ MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019287 Orphanet:2036 Orphanet:793 MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019294 Orphanet:2036 Orphanet:79380 mixed dermis disorder MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0016187 Orphanet:85146 Orphanet:209041 qualitative or quantitative defects of desmin MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0024257 Orphanet:85146 Orphanet:98505 hereditary motor neuron disease -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0024257 Orphanet:431255 Orphanet:98505 hereditary motor neuron disease MONDO:0008421 flat face-microstomia-ear anomaly syndrome MONDO:0015161 Orphanet:1968 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:0015159 Orphanet:3164 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:0015159 Orphanet:2462 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -18571,6 +18598,7 @@ MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0015624 Orphanet:358 MONDO:0011719 gastrointestinal stromal tumor MONDO:0018506 Orphanet:44890 Orphanet:423798 mesenchymal tumor of small intestine MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0016145 Orphanet:178400 Orphanet:207073 qualitative or quantitative defects of dysferlin MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0015159 Orphanet:397973 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0019226 Orphanet:71277 Orphanet:79178 glucose transport disorder MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:0009044 Orphanet:79235 Orphanet:205 Crigler-Najjar syndrome MONDO:0011730 fumaric aciduria MONDO:0016790 Orphanet:24 Orphanet:254749 tricarboxylic acid cycle disorder MONDO:0011731 glucose-galactose malabsorption MONDO:0019226 Orphanet:35710 Orphanet:79178 glucose transport disorder @@ -18617,6 +18645,7 @@ MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 Orphanet:99942 O MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 Orphanet:101084 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 Orphanet:99939 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011895 idiopathic hypereosinophilic syndrome MONDO:0015691 Orphanet:3260 Orphanet:168956 hypereosinophilic syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0700282 Orphanet:137639 Orphanet:289494 POLR3-related leukodystrophy MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0020297 Orphanet:2701 Orphanet:98733 Noonan syndrome and Noonan-related syndrome MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0019011 Orphanet:101085 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0018993 Orphanet:99943 Orphanet:64746 Charcot-Marie-Tooth disease type 2 @@ -18977,8 +19006,6 @@ MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0018446 Orphan MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0019289 Orphanet:79150 Orphanet:79375 hyperpigmentation of the skin MONDO:0013691 Feingold syndrome type 2 MONDO:0015267 Orphanet:391646 Orphanet:1305 Feingold syndrome MONDO:0013692 BAP1-related tumor predisposition syndrome MONDO:0015356 Orphanet:289539 Orphanet:140162 hereditary neoplastic syndrome -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0015362 Orphanet:397744 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0016108 Orphanet:397744 Orphanet:206650 autosomal dominant distal myopathy MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 Orphanet:330050 Orphanet:527276 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0013731 MEGF10-related myopathy MONDO:0019952 Orphanet:439212 Orphanet:97245 congenital myopathy MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0015159 Orphanet:329332 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -19007,7 +19034,7 @@ MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition MONDO:0013808 Maffucci syndrome MONDO:0015356 Orphanet:163634 Orphanet:140162 hereditary neoplastic syndrome MONDO:0013808 Maffucci syndrome MONDO:0019293 Orphanet:163634 Orphanet:79379 skin vascular disease MONDO:0013808 Maffucci syndrome MONDO:0019716 Orphanet:163634 Orphanet:93460 overgrowth syndrome -MONDO:0013810 COG6-ongenital disorder of glycosylation MONDO:0017750 Orphanet:464443 Orphanet:309568 defect in conserved oligomeric Golgi complex +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0017750 Orphanet:464443 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0013813 dystonia 21 MONDO:0000476 Orphanet:306734 Orphanet:376724 generalized dystonia MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0018151 Orphanet:280406 Orphanet:35656 coenzyme Q10 deficiency MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0018151 Orphanet:254898 Orphanet:35656 coenzyme Q10 deficiency @@ -20833,7 +20860,6 @@ MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome MONDO:0018170 Orph MONDO:0019071 pure hair and nail ectodermal dysplasia MONDO:0019287 Orphanet:69084 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0019074 bilateral acute depigmentation of the iris MONDO:0011119 Orphanet:69736 Orphanet:98634 iridogoniodysgenesis MONDO:0019078 Ritscher-Schinzel syndrome MONDO:0015159 Orphanet:7 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0019079 proximal spinal muscular atrophy MONDO:0024257 Orphanet:70 Orphanet:98505 hereditary motor neuron disease MONDO:0019080 alopecia totalis MONDO:0004907 Orphanet:700 Orphanet:79364 alopecia MONDO:0019082 bullous pemphigoid MONDO:0019337 Orphanet:703 Orphanet:79669 autoimmune bullous skin disease MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0016511 Orphanet:70596 Orphanet:232035 infectious embryofetopathy @@ -21584,7 +21610,6 @@ MONDO:0037149 HSD10 disease, atypical type MONDO:0010327 Orphanet:85295 Orphanet MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0015168 Orphanet:2547 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0016073 Orphanet:2547 Orphanet:202948 syndromic microphthalmia MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0043009 Orphanet:2547 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0043317 amyopathic dermatomyositis MONDO:0016367 Orphanet:645617 Orphanet:221 dermatomyositis MONDO:0044200 T-B+ severe combined immunodeficiency MONDO:0015974 Orphanet:317416 Orphanet:183660 severe combined immunodeficiency MONDO:0044201 T+ B+ severe combined immunodeficiency MONDO:0015974 Orphanet:397802 Orphanet:183660 severe combined immunodeficiency MONDO:0044202 episodic kinesigenic dyskinesia MONDO:0015427 Orphanet:98809 Orphanet:1431 paroxysmal dyskinesia @@ -21671,6 +21696,7 @@ MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0016894 O MONDO:0100567 hereditary angioedema with normal C1Inh MONDO:0019623 Orphanet:528647 Orphanet:91378 hereditary angioedema MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0015427 Orphanet:98810 Orphanet:1431 paroxysmal dyskinesia MONDO:0700264 type 1 interferonopathy MONDO:0019751 Orphanet:477647 Orphanet:93665 autoinflammatory syndrome +MONDO:0700282 POLR3-related leukodystrophy MONDO:0019046 Orphanet:289494 Orphanet:68356 leukodystrophy MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 Orphanet:313808 Orphanet:68356 leukodystrophy MONDO:0800029 interstitial lung disease 2 MONDO:0002429 Orphanet:2032 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:0019698 Orphanet:3206 Orphanet:93439 bent bone dysplasia diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 2811ed89..f5334f78 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -396,7 +396,6 @@ MONDO:0000859 MONDO:0008449 True spina bifida occulta spina bifida UNSUPPORTED-M MONDO:0000863 MONDO:0009637 True myopathy, lactic acidosis, and sideroblastic anemia inborn mitochondrial myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000863 MONDO:0016387 True myopathy, lactic acidosis, and sideroblastic anemia mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000863 MONDO:0020099 True myopathy, lactic acidosis, and sideroblastic anemia inherited sideroblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000866 MONDO:0005336 True hereditary myoglobinuria myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000870 MONDO:0004355 True childhood acute lymphoblastic leukemia childhood leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000870 MONDO:0004967 True childhood acute lymphoblastic leukemia acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000871 MONDO:0000621 True T-cell childhood acute lymphocytic leukemia immune system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -796,7 +795,6 @@ MONDO:0001295 MONDO:0001292 True idiopathic peripheral autonomic neuropathy auto MONDO:0001296 MONDO:0004588 True acquired night blindness night blindness SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001296 MONDO:0006873 True acquired night blindness nutritional deficiency disease UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001297 MONDO:0001370 True cardiac tamponade pericardial effusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED -MONDO:0001298 MONDO:0003767 True congenital mitral valve insufficiency mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001299 MONDO:0001300 True diabetic autonomic neuropathy autonomic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001300 MONDO:0001292 True autonomic neuropathy autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001300 MONDO:0005244 True autonomic neuropathy peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -838,7 +836,7 @@ MONDO:0001339 MONDO:0000831 True portal vein thrombosis thrombotic disease UNSUP MONDO:0001339 MONDO:0002405 True portal vein thrombosis hepatic vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001339 MONDO:0004634 True portal vein thrombosis vein disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001340 MONDO:0002100 True heart cancer cardiovascular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001340 MONDO:0003274 True heart cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001340 MONDO:0003274 True heart cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001340 MONDO:0021209 True heart cancer heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001341 MONDO:0001342 True selective IgA deficiency disease dysgammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001342 MONDO:0003739 True dysgammaglobulinemia selective immunoglobulin deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -1006,7 +1004,6 @@ MONDO:0001513 MONDO:0004751 True pulsating exophthalmos disease of orbital part MONDO:0001514 MONDO:0001592 True prolapse of urethra prolapse of female genital organ SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001514 MONDO:0004184 True prolapse of urethra urethral disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001515 MONDO:0000942 True corneal degeneration corneal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001516 MONDO:0020128 True spinal muscular atrophy motor neuron disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED MONDO:0001517 MONDO:0000916 True dysentery intestinal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001518 MONDO:0001519 True spastic entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001519 MONDO:0003382 True entropion eyelid disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -6714,7 +6711,6 @@ MONDO:0007251 MONDO:0005516 True campomelic dysplasia osteochondrodysplasia UNSU MONDO:0007251 MONDO:0019698 True campomelic dysplasia bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007252 MONDO:0015161 True Gordon syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007252 MONDO:0019942 True Gordon syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007254 MONDO:0003274 True breast cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007254 MONDO:0021100 True breast cancer breast neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007256 MONDO:0004970 True hepatocellular carcinoma adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007256 MONDO:0018531 True hepatocellular carcinoma carcinoma of liver and intrahepatic biliary tract UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7220,7 +7216,6 @@ MONDO:0008040 MONDO:0020076 True transient myeloproliferative syndrome myeloprol MONDO:0008043 MONDO:0100309 True myoclonus-cerebellar ataxia-deafness syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008044 MONDO:0000903 True myoclonic dystonia 11 myoclonus-dystonia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008045 MONDO:0001516 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008045 MONDO:0024257 True spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0019052 True autosomal dominant myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008047 MONDO:0016227 True episodic ataxia type 1 hereditary episodic ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008048 MONDO:0000426 True autosomal dominant centronuclear myopathy autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -7383,11 +7378,11 @@ MONDO:0008289 MONDO:0020496 True brain small vessel disease 1 with or without oc MONDO:0008291 MONDO:0006602 True porokeratosis plantaris palmaris et disseminata porokeratosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008292 MONDO:0017675 True punctate palmoplantar keratoderma type 2 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008294 MONDO:0002520 True acute intermittent porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008294 MONDO:0019142 True acute intermittent porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008295 MONDO:0015104 True sporadic porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008296 MONDO:0015104 True familial porphyria cutanea tarda porphyria cutanea tarda UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008297 MONDO:0002520 True variegate porphyria hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008297 MONDO:0019142 True variegate porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008298 MONDO:0018234 True postaxial tetramelic oligodactyly dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008298 MONDO:0019054 True postaxial tetramelic oligodactyly congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008300 MONDO:0002254 True Prader-Willi syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -7466,7 +7461,6 @@ MONDO:0008404 MONDO:0019294 True scalp-ear-nipple syndrome mixed dermis disorder MONDO:0008407 MONDO:0016187 True neurogenic scapuloperoneal syndrome, Kaeser type qualitative or quantitative defects of desmin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008407 MONDO:0024257 True neurogenic scapuloperoneal syndrome, Kaeser type hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008408 MONDO:0000426 True scapuloperoneal spinal muscular atrophy, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008408 MONDO:0024257 True scapuloperoneal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008409 MONDO:0016195 True congenital myopathy 7A, myosin storage, autosomal dominant qualitative or quantitative defects of beta-myosin heavy chain (MYH7) UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008409 MONDO:0019952 True congenital myopathy 7A, myosin storage, autosomal dominant congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008410 MONDO:0018381 True Scheuermann disease osteochondrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -7502,7 +7496,6 @@ MONDO:0008447 MONDO:0019350 True hereditary spherocytosis type 1 hereditary sphe MONDO:0008450 MONDO:0015304 True spinal arachnoiditis arachnoiditis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008451 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 1 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008453 MONDO:0001516 True adult-onset proximal spinal muscular atrophy, autosomal dominant spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008453 MONDO:0024257 True adult-onset proximal spinal muscular atrophy, autosomal dominant hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008457 MONDO:0019793 True spinocerebellar ataxia type 6 autosomal dominant cerebellar ataxia type III UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008458 MONDO:0005144 True spinocerebellar ataxia type 2 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008458 MONDO:0015548 True spinocerebellar ataxia type 2 Huntington disease-like syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8205,7 +8198,7 @@ MONDO:0009366 MONDO:0002045 True normal pressure hydrocephalus communicating hyd MONDO:0009367 MONDO:0015161 True McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009368 MONDO:0000463 True urofacial syndrome type 1 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009370 MONDO:0016001 True L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED +MONDO:0009370 MONDO:0016001 True L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009371 MONDO:0019215 True 3-hydroxyisobutyric aciduria classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009372 MONDO:0017350 True encephalopathy due to hydroxykynureninuria inborn disorder of tryptophan metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009373 MONDO:0017351 True seizures-intellectual disability due to hydroxylysinuria syndrome inborn disorder of lysine and hydroxylysine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8631,7 +8624,7 @@ MONDO:0009900 MONDO:0015161 True polysyndactyly-cardiac malformation syndrome mu MONDO:0009901 MONDO:0017435 True Bartsocas-Papas syndrome 1 popliteal pterygium syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009901 MONDO:0019287 True Bartsocas-Papas syndrome 1 ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009901 MONDO:0043009 True Bartsocas-Papas syndrome 1 hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009902 MONDO:0019142 True cutaneous porphyria inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009903 MONDO:0002254 True postaxial acrofacial dysostosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009903 MONDO:0015161 True postaxial acrofacial dysostosis multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009903 MONDO:0018237 True postaxial acrofacial dysostosis acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -9182,7 +9175,6 @@ MONDO:0010529 MONDO:0016612 True X-linked spinocerebellar ataxia type 3 X-linked MONDO:0010531 MONDO:0019287 True contractures-ectodermal dysplasia-cleft lip/palate syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010532 MONDO:0001516 True infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010532 MONDO:0015168 True infantile-onset X-linked spinal muscular atrophy arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010532 MONDO:0024257 True infantile-onset X-linked spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010533 MONDO:0003847 True Arts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010534 MONDO:0016612 True X-linked spinocerebellar ataxia type 4 X-linked cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010537 MONDO:0020119 True Borjeson-Forssman-Lehmann syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9461,7 +9453,7 @@ MONDO:0010916 MONDO:0004691 True polycystic kidney disease 3 with or without pol MONDO:0010920 MONDO:0019755 True microtia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010922 MONDO:0004907 True Satoyoshi syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010922 MONDO:0019852 True Satoyoshi syndrome inherited primary ovarian failure UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0010924 MONDO:0016001 True D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED +MONDO:0010924 MONDO:0016001 True D-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010925 MONDO:0015161 True velo-facial-skeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010926 MONDO:0018458 True familial hypocalciuric hypercalcemia 3 familial hypocalciuric hypercalcemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010930 MONDO:0015161 True anophthalmia plus syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10011,6 +10003,7 @@ MONDO:0011721 MONDO:0016145 True distal myopathy with anterior tibial onset qual MONDO:0011721 MONDO:0018949 True distal myopathy with anterior tibial onset distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED SUPPORTED MONDO:0011722 MONDO:0015159 True intellectual disability-obesity-prognathism-eye and skin anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011724 MONDO:0000188 True encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011724 MONDO:0019226 True encephalopathy due to GLUT1 deficiency glucose transport disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011725 MONDO:0009044 True Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011728 MONDO:0000477 True benign essential blepharospasm focal dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011730 MONDO:0016790 True fumaric aciduria tricarboxylic acid cycle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10146,7 +10139,7 @@ MONDO:0011891 MONDO:0010826 True febrile seizures, familial, 8 childhood absence MONDO:0011891 MONDO:0018214 True febrile seizures, familial, 8 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0011894 MONDO:0018993 True Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0011895 MONDO:0015691 True idiopathic hypereosinophilic syndrome hypereosinophilic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011897 MONDO:0019046 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011897 MONDO:0700282 True leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome POLR3-related leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011899 MONDO:0020297 True Noonan syndrome-like disorder with loose anagen hair Noonan syndrome and Noonan-related syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011901 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011902 MONDO:0019011 True Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -10960,7 +10953,7 @@ MONDO:0012995 MONDO:0001384 True myopia 15, autosomal dominant myopia UNSUPPORTE MONDO:0012996 MONDO:0000456 True AGAT deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012999 MONDO:0000456 True guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013000 MONDO:0002520 True porphyria due to ALA dehydratase deficiency hepatic porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013000 MONDO:0019142 True porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013000 MONDO:0019142 True porphyria due to ALA dehydratase deficiency inherited porphyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013002 MONDO:0015993 True cone-rod dystrophy 9 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013005 MONDO:0015962 True EAST syndrome inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013005 MONDO:0100309 True EAST syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -11529,15 +11522,12 @@ MONDO:0013708 MONDO:0019502 True intellectual disability, autosomal recessive 25 MONDO:0013709 MONDO:0019502 True intellectual disability, autosomal recessive 28 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013710 MONDO:0000426 True Lynch syndrome 5 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013710 MONDO:0018630 True Lynch syndrome 5 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013711 MONDO:0015362 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0013711 MONDO:0016108 True peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013712 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 5 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013714 MONDO:0044209 True mannose-binding lectin deficiency disorder of lectin complement activation pathway UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013716 MONDO:0007031 True aortic aneurysm, familial abdominal, 4 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013717 MONDO:0018770 True asphyxiating thoracic dystrophy 5 Jeune syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013718 MONDO:0019005 True nephronophthisis 13 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013719 MONDO:0009032 True cranioectodermal dysplasia 4 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013722 MONDO:0019046 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013722 MONDO:0020022 True hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013725 MONDO:0000426 True colorectal cancer, hereditary nonpolyposis, type 7 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013725 MONDO:0018630 True colorectal cancer, hereditary nonpolyposis, type 7 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11614,8 +11604,8 @@ MONDO:0013808 MONDO:0015356 True Maffucci syndrome hereditary neoplastic syndrom MONDO:0013808 MONDO:0019293 True Maffucci syndrome skin vascular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013808 MONDO:0019716 True Maffucci syndrome overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013808 MONDO:0019755 True Maffucci syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013810 MONDO:0005501 True COG6-ongenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013810 MONDO:0017750 True COG6-ongenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013810 MONDO:0005501 True COG6-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013810 MONDO:0017750 True COG6-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013811 MONDO:0000732 True combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013812 MONDO:0017579 True Baraitser-winter syndrome 2 Baraitser-Winter cerebrofrontofacial syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013813 MONDO:0000476 True dystonia 21 generalized dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -12372,7 +12362,6 @@ MONDO:0014662 MONDO:0015364 True congenital insensitivity to pain-hypohidrosis s MONDO:0014663 MONDO:0008394 True Silver-Russell syndrome 3 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014664 MONDO:0018772 True Joubert syndrome 23 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014665 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014666 MONDO:0019046 True hypomyelinating leukodystrophy 11 leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014667 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014668 MONDO:0015487 True cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014669 MONDO:0015993 True cone-rod dystrophy 21 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -13196,7 +13185,7 @@ MONDO:0015993 MONDO:0019118 True cone-rod dystrophy inherited retinal dystrophy MONDO:0015995 MONDO:0018230 True melorheostosis with osteopoikilosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015998 MONDO:0001176 True isolated ectopia lentis lens disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015999 MONDO:0005495 True primary pigmented nodular adrenocortical disease adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED +MONDO:0016001 MONDO:0019052 True 2-hydroxyglutaric aciduria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016002 MONDO:0006025 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016002 MONDO:0020066 True Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0016003 MONDO:0000314 True ehrlichiosis primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -13451,7 +13440,6 @@ MONDO:0016393 MONDO:0015770 True hyposmia-nasal and ocular hypoplasia-hypogonado MONDO:0016394 MONDO:0015518 True sporadic infantile bilateral striatal necrosis infantile bilateral striatal necrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0016113 True pontocerebellar hypoplasia type 1 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016396 MONDO:0020135 True pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0016396 MONDO:0024257 True pontocerebellar hypoplasia type 1 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016407 MONDO:0005240 True oligomeganephronia kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016408 MONDO:0015514 True permanent congenital hypothyroidism hereditary endocrine growth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016408 MONDO:0018612 True permanent congenital hypothyroidism congenital hypothyroidism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13695,7 +13683,6 @@ MONDO:0016755 MONDO:0016752 True neurofibroma benign peripheral nerve sheath tum MONDO:0016757 MONDO:0017827 True malignant triton tumor malignant peripheral nerve sheath tumor UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016759 MONDO:0016113 True pontocerebellar hypoplasia type 2 bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016759 MONDO:0020135 True pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0016759 MONDO:0024257 True pontocerebellar hypoplasia type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016760 MONDO:0015159 True microcephaly-microcornea syndrome, Seemanova type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016761 MONDO:0005516 True spondyloepiphyseal dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016763 MONDO:0018230 True spondylometaphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14760,7 +14747,6 @@ MONDO:0018446 MONDO:0015653 True autosomal recessive cerebellar ataxia - epileps MONDO:0018447 MONDO:0000631 True chondromyxoid fibroma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018447 MONDO:0024470 True chondromyxoid fibroma benign chondrogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018449 MONDO:0005086 True acquired cystic disease-associated renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018450 MONDO:0024257 True spinal muscular atrophy with respiratory distress type 2 hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018453 MONDO:0015356 True familial atypical multiple mole melanoma syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018456 MONDO:0011429 True polyarticular juvenile idiopathic arthritis juvenile idiopathic arthritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018458 MONDO:0001566 True familial hypocalciuric hypercalcemia hypercalcemia disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -15180,7 +15166,6 @@ MONDO:0019074 MONDO:0011119 True bilateral acute depigmentation of the iris irid MONDO:0019077 MONDO:0002093 True warty dyskeratoma acanthoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019078 MONDO:0015159 True Ritscher-Schinzel syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019078 MONDO:0020022 True Ritscher-Schinzel syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019079 MONDO:0024257 True proximal spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019080 MONDO:0004907 True alopecia totalis alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019082 MONDO:0019337 True bullous pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019083 MONDO:0009723 True Leigh syndrome with cardiomyopathy Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16973,7 +16958,7 @@ MONDO:0024757 MONDO:0005070 True cardiovascular neoplasm neoplasm UNSUPPORTED-MI MONDO:0024770 MONDO:0031384 True autoinflammatory syndrome, familial, X-linked, Behcet-like 2 autoinflammatory syndrome, familial, Behcet-like UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024771 MONDO:0018949 True myopathy, distal, 7, adult-onset, X-linked distal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024772 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Pilorge type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024773 MONDO:0004983 True spermatogenic failure, X-linked, 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0024773 MONDO:0004983 True spermatogenic failure, X-linked, 4 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024777 MONDO:0021094 True immunodeficiency 98 with autoinflammation, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024781 MONDO:0021094 True immunodeficiency 102 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024797 MONDO:0021228 True adult brain stem neoplasm brainstem neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17246,11 +17231,11 @@ MONDO:0030703 MONDO:0000603 True autoimmune vasculitis autoimmune disorder of ca MONDO:0030711 MONDO:0019403 True Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive congenital dyserythropoietic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030712 MONDO:0025193 True oculopharyngodistal myopathy 4 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030714 MONDO:0019019 True osteogenesis imperfecta, IIA 22 osteogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030716 MONDO:0004983 True spermatogenic failure 66 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030716 MONDO:0004983 True spermatogenic failure 66 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030717 MONDO:0021094 True immunodeficiency 97 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030718 MONDO:0004983 True spermatogenic failure 67 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030718 MONDO:0004983 True spermatogenic failure 67 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030719 MONDO:0019587 True hearing loss, autosomal dominant 82 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030721 MONDO:0004983 True spermatogenic failure 68 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030721 MONDO:0004983 True spermatogenic failure 68 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030723 MONDO:0019587 True hearing loss, autosomal dominant 83 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030724 MONDO:0019587 True hearing loss, autosomal dominant 84 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030726 MONDO:0018542 True neutropenia, severe congenital, 9, autosomal dominant severe congenital neutropenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17258,8 +17243,8 @@ MONDO:0030727 MONDO:0100062 True developmental and epileptic encephalopathy 101 MONDO:0030729 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 1 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030730 MONDO:0031400 True Tessadori-van Haaften neurodevelopmental syndrome 2 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030731 MONDO:0019625 True aortic aneurysm, familial thoracic 12 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030732 MONDO:0004983 True spermatogenic failure 69 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030733 MONDO:0004983 True spermatogenic failure 70 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030732 MONDO:0004983 True spermatogenic failure 69 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0030733 MONDO:0004983 True spermatogenic failure 70 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030736 MONDO:0009299 True ovarian dysgenesis 10 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030746 MONDO:0017612 True epidermolysis bullosa, junctional 2A, intermediate junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030747 MONDO:0017612 True epidermolysis bullosa, junctional 2B, severe junctional epidermolysis bullosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17271,17 +17256,17 @@ MONDO:0030768 MONDO:0017612 True epidermolysis bullosa, junctional 5A, intermedi MONDO:0030770 MONDO:0031376 True congenital disorder of deglycosylation 2 congenital disorder of deglycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030781 MONDO:0031213 True restrictive dermopathy 2 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030785 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0030787 MONDO:0004983 True spermatogenic failure 71 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030787 MONDO:0004983 True spermatogenic failure 71 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030797 MONDO:0019200 True retinitis pigmentosa 93 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030798 MONDO:0021094 True immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030800 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 9 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030801 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 2 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030805 MONDO:0020380 True spinocerebellar ataxia 49 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030809 MONDO:0004983 True spermatogenic failure 72 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030809 MONDO:0004983 True spermatogenic failure 72 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030810 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 10 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030813 MONDO:0021094 True immunodeficiency 101 (varicella zoster virus-specific) immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030815 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 11 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030818 MONDO:0004983 True spermatogenic failure 73 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030818 MONDO:0004983 True spermatogenic failure 73 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030819 MONDO:0018921 True meckel syndrome 14 Meckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030822 MONDO:0018470 True renal hypodysplasia/aplasia 4 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030827 MONDO:0031447 True macrothrombocytopenia, isolated, 2, autosomal dominant macrothrombocytopenia, isolated UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17363,13 +17348,13 @@ MONDO:0030968 MONDO:0019502 True intellectual developmental disorder, autosomal MONDO:0030969 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 68 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030970 MONDO:0021094 True immunodeficiency 106, susceptibility to viral infections immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030971 MONDO:0021094 True immunodeficiency 78 with autoimmunity and developmental delay immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030972 MONDO:0004983 True spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030972 MONDO:0004983 True spermatogenic failure 74 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030973 MONDO:0021094 True immunodeficiency 77 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030974 MONDO:0031230 True mitochondrial complex 2 deficiency, nuclear type 4 mitochondrial complex II deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030975 MONDO:0019852 True premature ovarian failure 20 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030977 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 7 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030983 MONDO:0018094 True Waardenburg syndrome, IIa 2F Waardenburg syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030984 MONDO:0004983 True spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030984 MONDO:0004983 True spermatogenic failure 75 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030985 MONDO:0019852 True premature ovarian failure 19 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030989 MONDO:0004983 True spermatogenic failure 53 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030993 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17403,8 +17388,8 @@ MONDO:0031061 MONDO:0002350 True nephrotic syndrome, IIa 26 familial nephrotic s MONDO:0031062 MONDO:0004691 True polycystic kidney disease 7 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0031068 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031071 MONDO:0015253 True Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031077 MONDO:0004983 True spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031083 MONDO:0004983 True spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031077 MONDO:0004983 True spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0031083 MONDO:0004983 True spermatogenic failure 77 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0031084 MONDO:0019507 True amelogenesis imperfecta, IIa 1K amelogenesis imperfecta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0031329 MONDO:0002254 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0031332 MONDO:0100326 True Glanzmann thrombasthenia 1 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17975,7 +17960,6 @@ MONDO:0043143 MONDO:0016073 True microphthalmia microtia fetal akinesia syndromi MONDO:0043143 MONDO:0043009 True microphthalmia microtia fetal akinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043219 MONDO:0005475 True migraine with brainstem aura migraine with aura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043300 MONDO:0002102 True actinic cheilitis cheilitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043317 MONDO:0016367 True amyopathic dermatomyositis dermatomyositis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043541 MONDO:0003799 True viral conjunctivitis conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043762 MONDO:0000755 True tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043777 MONDO:0006604 True rhinophyma rosacea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18469,6 +18453,7 @@ MONDO:0700249 MONDO:0007239 True epidermolytic hyperkeratosis 1 epidermolytic ic MONDO:0700250 MONDO:0033885 True mitochondrial complex IV deficiency, nuclear type 1 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0700251 MONDO:0000358 True orofacial cleft 7 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0700264 MONDO:0019751 True type 1 interferonopathy autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700282 MONDO:0019046 True POLR3-related leukodystrophy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800025 MONDO:0030639 True Teebi hypertelorism syndrome 1 Teebi hypertelorism syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0800026 MONDO:0001292 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800026 MONDO:0800031 True central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease central hypoventilation syndrome, congenital UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18641,7 +18626,6 @@ MONDO:0858916 MONDO:0005565 True pituitary blastoma blastoma UNSUPPORTED-MISSING MONDO:0858917 MONDO:0003164 True cauda equina neuroendocrine tumor cauda equina neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0858921 MONDO:0006974 True EWSR1-negative small round cell tumor small cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0858926 MONDO:0002254 True developmental delay, hypotrophy, and dysmorphic features without moebius syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0858939 MONDO:0100342 True diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0858940 MONDO:0021636 True infant-type hemispheric glioma astrocytic tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0858944 MONDO:0000628 True myxoid glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0858956 MONDO:0000628 True diffuse leptomeningeal glioneuronal tumor central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18705,13 +18689,13 @@ MONDO:0859333 MONDO:0100172 True intellectual developmental disorder, autosomal MONDO:0859334 MONDO:0020380 True spinocerebellar ataxia 50 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859335 MONDO:0019952 True congenital myopathy 15 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859337 MONDO:0000732 True combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859339 MONDO:0005486 True tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859342 MONDO:0016660 True microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859353 MONDO:0016575 True ciliary dyskinesia, primary, 49, without situs inversus primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859354 MONDO:0031432 True thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859356 MONDO:0005501 True congenital disorder of glycosylation, type IIy congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18720,7 +18704,7 @@ MONDO:0859358 MONDO:0016333 True cardiomyopathy, dilated, 2H familial dilated ca MONDO:0859360 MONDO:0015244 True spinocerebellar ataxia, autosomal recessive 33 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859362 MONDO:0005803 True hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859363 MONDO:0019064 True spastic paraplegia 79A, autosomal dominant, with ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859364 MONDO:0004983 True spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859364 MONDO:0004983 True spermatogenic failure 80 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859366 MONDO:0019587 True hearing loss, autosomal dominant 85 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859367 MONDO:0019200 True retinitis pigmentosa 96 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859372 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18731,15 +18715,15 @@ MONDO:0859379 MONDO:0019313 True lymphatic malformation 13 lymphatic malformatio MONDO:0859380 MONDO:0044202 True episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859381 MONDO:0016333 True cardiomyopathy, dilated, 100 familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859382 MONDO:0005129 True cataract 50 with or without glaucoma cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859477 MONDO:0004983 True spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859478 MONDO:0004983 True spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859477 MONDO:0004983 True spermatogenic failure, X-linked, 5 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0859478 MONDO:0004983 True spermatogenic failure, X-linked, 6 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859514 MONDO:0019952 True congenital myopathy 18 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859515 MONDO:0019952 True congenital myopathy 10b, mild variant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859517 MONDO:0019952 True congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859518 MONDO:0019046 True leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859520 MONDO:0033885 True mitochondrial complex IV deficiency, nuclear type 23 mitochondrial complex IV deficiency, nuclear-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859521 MONDO:0014769 True oocyte maturation defect 14 inherited oocyte maturation defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859522 MONDO:0004983 True spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859522 MONDO:0004983 True spermatogenic failure 81 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859523 MONDO:0019952 True congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859524 MONDO:0019587 True hearing loss, autosomal dominant 86 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859525 MONDO:0019587 True hearing loss, autosomal dominant 87 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18812,7 +18796,7 @@ MONDO:0957112 MONDO:0019119 True neurological muscular channelopathy due to a ge MONDO:0957113 MONDO:0019119 True neurological muscular channelopathy due to a genetic calcium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957114 MONDO:0019119 True neurological muscular channelopathy due to a genetic potassium channel defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957115 MONDO:0019119 True neurological muscular channelopathy due to a genetic ryanodine receptor defect muscular channelopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957202 MONDO:0004983 True spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957202 MONDO:0004983 True spermatogenic failure, X-linked, 7 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957203 MONDO:0019181 True intellectual developmental disorder, X-linked 111 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957208 MONDO:0013099 True pituitary hormone deficiency, combined or isolated, 8 combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957215 MONDO:0019952 True congenital myopathy 20 congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18828,8 +18812,8 @@ MONDO:0957231 MONDO:0014769 True oocyte/zygote/embryo maturation arrest 19 inher MONDO:0957240 MONDO:0015993 True cone-rod dystrophy 24 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957247 MONDO:0019952 True congenital myopathy 22A, classic congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957248 MONDO:0100062 True developmental and epileptic encephalopathy, 31B developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0957249 MONDO:0004983 True spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957250 MONDO:0004983 True spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957249 MONDO:0004983 True spermatogenic failure 82 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0957250 MONDO:0004983 True spermatogenic failure 83 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957252 MONDO:0016575 True ciliary dyskinesia, primary, 50 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957253 MONDO:0000824 True diarrhea 13 congenital diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957254 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18846,7 +18830,7 @@ MONDO:0957281 MONDO:0018958 True nemaline myopathy 5B, autosomal recessive, chil MONDO:0957284 MONDO:0018958 True nemaline myopathy 5C, autosomal dominant nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957288 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957294 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957303 MONDO:0968949 True palmoplantar keratoderma, epidermolytic, 2 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18892,9 +18876,9 @@ MONDO:0957572 MONDO:0100241 True thrombocytopenia 9 inherited thrombocytopenia U MONDO:0957576 MONDO:0005180 True parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957578 MONDO:0100241 True thrombocytopenia 10 inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957580 MONDO:0000009 True bleeding disorder, platelet-type, 25 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957584 MONDO:0004983 True spermatogenic failure 85 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957593 MONDO:0004983 True spermatogenic failure 86 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957594 MONDO:0004983 True spermatogenic failure 87 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957584 MONDO:0004983 True spermatogenic failure 85 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0957593 MONDO:0004983 True spermatogenic failure 86 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0957594 MONDO:0004983 True spermatogenic failure 87 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957595 MONDO:0000159 True Ziegler-Huang syndrome bone marrow failure syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957780 MONDO:0100062 True developmental and epileptic encephalopathy 111 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957788 MONDO:0019064 True spastic paraplegia 18a, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18904,7 +18888,7 @@ MONDO:0957812 MONDO:0100062 True developmental and epileptic encephalopathy 112 MONDO:0957813 MONDO:0019064 True spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957819 MONDO:0019942 True arthrogryposis, distal, type 12 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957820 MONDO:0005501 True congenital disorder of glycosylation, type IIbb congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957821 MONDO:0004983 True spermatogenic failure 88 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957821 MONDO:0004983 True spermatogenic failure 88 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957822 MONDO:0019852 True premature ovarian failure 22 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957824 MONDO:0043878 True optic atrophy 14 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957825 MONDO:0019588 True hearing loss, autosomal recessive 121 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19008,7 +18992,7 @@ MONDO:0958200 MONDO:0019181 True intellectual developmental disorder, x-linked 1 MONDO:0958202 MONDO:0016820 True moyamoya disease 7 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958203 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 74 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958204 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 81 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0958206 MONDO:0004983 True spermatogenic failure 89 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958206 MONDO:0004983 True spermatogenic failure 89 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0958228 MONDO:0019588 True hearing loss, autosomal recessive 122 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958230 MONDO:0015375 True orofaciodigital syndrome 20 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0958232 MONDO:0019587 True hearing loss, autosomal dominant 90 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19018,7 +19002,7 @@ MONDO:0958235 MONDO:0000355 True Ullrich congenital muscular dystrophy 1B Ullric MONDO:0958236 MONDO:0000355 True Ullrich congenital muscular dystrophy 1C Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0958239 MONDO:0000170 True microphthalmia/coloboma 11 microphthalmia, isolated, with coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958241 MONDO:0024573 True cardiomyopathy, familial hypertrophic, 30, atrial familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0958242 MONDO:0004983 True spermatogenic failure 90 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958242 MONDO:0004983 True spermatogenic failure 90 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0958258 MONDO:0020529 True Cushing syndrome due to cortisol-producing adrenocortical adenoma ACTH-independent Cushing syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958259 MONDO:0000859 True dysraphism with stalk spina bifida occulta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958260 MONDO:0000859 True dysraphic spinal cord lipoma spina bifida occulta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19071,10 +19055,10 @@ MONDO:0968988 MONDO:0958345 True saccular spinal dysraphism with a stalk to the MONDO:0968989 MONDO:0958345 True non-saccular limited dorsal myeloschisis limited dorsal myeloschisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968990 MONDO:0958356 True genetic central precocious puberty in male primary central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968991 MONDO:0958356 True non-genetic central precocious puberty in male primary central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0970943 MONDO:0004983 True spermatogenic failure, x-linked, 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0970943 MONDO:0004983 True spermatogenic failure, x-linked, 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0970945 MONDO:0100062 True developmental and epileptic encephalopathy 116 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0970950 MONDO:0010002 True Rothmund-Thomson syndrome, type 4 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0970952 MONDO:0004983 True spermatogenic failure 91 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0970952 MONDO:0004983 True spermatogenic failure 91 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0970957 MONDO:0968987 True terminal extramedullary conus spinal cord lipoma extramedullary conus spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0970958 MONDO:0968987 True transitional extramedullary conus spinal cord lipoma extramedullary conus spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0970959 MONDO:0968987 True posterior extramedullary conus spinal cord lipoma extramedullary conus spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19087,10 +19071,10 @@ MONDO:0970964 MONDO:0968988 True myelic limited dorsal malformation saccular spi MONDO:0970993 MONDO:0021094 True immunodeficiency 119 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970994 MONDO:0021094 True immunodeficiency 120 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970995 MONDO:0019852 True premature ovarian failure 24 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0970999 MONDO:0004983 True spermatogenic failure 92 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0971000 MONDO:0004983 True spermatogenic failure 93 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0970999 MONDO:0004983 True spermatogenic failure 92 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0971000 MONDO:0004983 True spermatogenic failure 93 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0971001 MONDO:0021094 True immunodeficiency 121 with autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0971002 MONDO:0004983 True spermatogenic failure 94 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971002 MONDO:0004983 True spermatogenic failure 94 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0971004 MONDO:0007100 True amyloidosis, hereditary systemic 1 familial amyloid neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971005 MONDO:0008855 True MHC class II deficiency 1 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971006 MONDO:0011476 True MHC class I deficiency 1 MHC class I deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19104,6 +19088,12 @@ MONDO:0971013 MONDO:0008855 True MHC class II deficiency 2 MHC class II deficien MONDO:0971014 MONDO:0008855 True MHC class II deficiency 3 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971015 MONDO:0008855 True MHC class II deficiency 4 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971016 MONDO:0008855 True MHC class II deficiency 5 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0971031 MONDO:0006504 True auto-brewery syndrome acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0971032 MONDO:0006504 True bladder fermentation syndrome acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0971033 MONDO:0015075 True intrathyroid thymic carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0971034 MONDO:0015075 True thyroid gland cribriform morular carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0971035 MONDO:0015075 True thyroid gland mixed medullary and follicular cell-derived carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0971036 MONDO:0015075 True thyroid gland mucinous carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0971044 MONDO:0020066 True Ehlers-Danlos syndrome, classic-like, 3 Ehlers-Danlos syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971047 MONDO:0015159 True PRC-2 complex-related overgrowth spectrum multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971047 MONDO:0019716 True PRC-2 complex-related overgrowth spectrum overgrowth syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19144,7 +19134,7 @@ MONDO:0971171 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal rece MONDO:0971174 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 9b fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971177 MONDO:0021094 True immunodeficiency 123 with HPV-related verrucosis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0975746 MONDO:0019064 True spastic paraplegia 92, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0975747 MONDO:0004983 True spermatogenic failure 95 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0975747 MONDO:0004983 True spermatogenic failure 95 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0975749 MONDO:0021094 True immunodeficiency 125 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0975753 MONDO:0971115 True papillary hemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0975754 MONDO:0971116 True pseudomyogenic hemangioendothelioma borderline vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19153,6 +19143,11 @@ MONDO:0975756 MONDO:0971115 True reactive angioendotheliomatosis benign vascular MONDO:0975757 MONDO:0971115 True anastomosing haemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0975758 MONDO:0971115 True microvenular haemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0975759 MONDO:0971115 True acquired elastotic haemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975761 MONDO:0021094 True immunodeficiency 126, susceptibility to immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:1010030 MONDO:0006517 True pediatric high-grade glioma childhood malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1010030 MONDO:0100342 True pediatric high-grade glioma malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1030008 MONDO:0003767 True mitral valve insufficiency mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:1030011 MONDO:0004981 True paroxysmal atrial fibrillation atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1040033 MONDO:0019950 True congenital muscular dystrophy without intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19237,7 +19232,6 @@ MONDO:0000181 MONDO:0004674 False microcephaly and chorioretinopathy chorioretin MONDO:0000181 MONDO:0100500 False microcephaly and chorioretinopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000182 MONDO:0002320 False congenital myasthenic syndrome with tubular aggregates congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000182 MONDO:0018940 False congenital myasthenic syndrome with tubular aggregates congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0000188 MONDO:0019226 False GLUT1 deficiency syndrome glucose transport disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0100033 False GLUT1 deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0100545 False GLUT1 deficiency syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000190 MONDO:0007263 False ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19686,6 +19680,7 @@ MONDO:0001290 MONDO:0020576 False allergic cutaneous vasculitis cutaneous vascul MONDO:0001292 MONDO:0002602 False autonomic nervous system disorder central nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001295 MONDO:0700007 False idiopathic peripheral autonomic neuropathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001298 MONDO:0020674 False congenital mitral valve insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001298 MONDO:1030008 False congenital mitral valve insufficiency mitral valve insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001299 MONDO:0006626 False diabetic autonomic neuropathy diabetic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001304 MONDO:0024633 False benign hypertensive renal disease hypertensive nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001307 MONDO:0005227 False corneal abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19757,6 +19752,7 @@ MONDO:0001505 MONDO:0043693 False alcoholic hepatitis alcoholic liver diseases U MONDO:0001506 MONDO:0005280 False prostatocystitis prostatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001507 MONDO:0021666 False viral labyrinthitis ear infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001516 MONDO:0003182 False spinal muscular atrophy anterior horn disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001516 MONDO:0024257 False spinal muscular atrophy hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001517 MONDO:0000252 False dysentery inflammatory diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001517 MONDO:0000257 False dysentery acute diarrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001532 MONDO:0005745 False capillariasis Enoplea infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22198,6 +22194,7 @@ MONDO:0007250 MONDO:0021147 False camptodactyly of fingers disorder of developme MONDO:0007251 MONDO:0005151 False campomelic dysplasia endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007251 MONDO:0015160 False campomelic dysplasia multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007253 MONDO:0003847 False cancer, familial, with in vitro Radioresistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007254 MONDO:0003274 False breast cancer thoracic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007258 MONDO:0003847 False canine teeth, absence of upper permanent hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007259 MONDO:0100237 False craniofaciofrontodigital syndrome inherited cutis laxa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007260 MONDO:0003847 False Car factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22836,8 +22833,6 @@ MONDO:0008045 MONDO:0005395 False spinal muscular atrophy-progressive myoclonic MONDO:0008045 MONDO:0100524 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008045 MONDO:0800460 False spinal muscular atrophy-progressive myoclonic epilepsy syndrome ASAH1-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008046 MONDO:0000426 False autosomal dominant myoglobinuria autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008046 MONDO:0000866 False autosomal dominant myoglobinuria hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008046 MONDO:0700223 False autosomal dominant myoglobinuria hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008047 MONDO:0020127 False episodic ataxia type 1 hereditary peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008050 MONDO:0002320 False MYH7-related skeletal myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008050 MONDO:0019952 False MYH7-related skeletal myopathy congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -23052,7 +23047,7 @@ MONDO:0008290 MONDO:0019141 False porokeratosis 1, Mibelli type porokeratosis of MONDO:0008293 MONDO:0019141 False porokeratosis 3, disseminated superficial actinic type porokeratosis of Mibelli UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008293 MONDO:0019212 False porokeratosis 3, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008294 MONDO:0020683 False acute intermittent porphyria acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008295 MONDO:0006504 False sporadic porphyria cutanea tarda acquired metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008295 MONDO:1030015 False sporadic porphyria cutanea tarda acquired porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008296 MONDO:0100498 False familial porphyria cutanea tarda UROD-related inherited porphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008298 MONDO:0003847 False postaxial tetramelic oligodactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008299 MONDO:0003847 False posterior column ataxia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24101,6 +24096,7 @@ MONDO:0009550 MONDO:0001567 False renal hypomagnesemia 3 nephrocalcinosis UNSUPP MONDO:0009550 MONDO:0006510 False renal hypomagnesemia 3 renal tubular transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009551 MONDO:0003847 False magnesium, elevated red cell hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009555 MONDO:0003847 False malocclusion and short stature hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009558 MONDO:0700278 False Treacher Collins syndrome 3 POLR1C-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009559 MONDO:0003847 False mandibulofacial dysostosis with mental deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0003847 False oculotrichoanal syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009560 MONDO:0015160 False oculotrichoanal syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24383,6 +24379,7 @@ MONDO:0009906 MONDO:0008882 False prenatal bowing congenital bowing of long bone MONDO:0009907 MONDO:0003847 False Prepapillary vascular loops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009909 MONDO:0003847 False progesterone resistance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0015327 False Wiedemann-Rautenstrauch syndrome developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009910 MONDO:0700276 False Wiedemann-Rautenstrauch syndrome POLR3A-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009910 MONDO:0800064 False Wiedemann-Rautenstrauch syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009911 MONDO:0003847 False prolactin deficiency, isolated hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009912 MONDO:0003847 False prolactin deficiency with obesity and enlarged testes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24458,10 +24455,8 @@ MONDO:0009985 MONDO:0015126 False retinohepatoendocrinologic syndrome polyendocr MONDO:0009986 MONDO:0003847 False retinopathy, pigmentary, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009988 MONDO:0004579 False retinoschisis of fovea retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009988 MONDO:0019118 False retinoschisis of fovea inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009992 MONDO:0000866 False myoglobinuria, acute recurrent, autosomal recessive hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0020504 False myoglobinuria, acute recurrent, autosomal recessive hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009992 MONDO:0020683 False myoglobinuria, acute recurrent, autosomal recessive acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009992 MONDO:0700223 False myoglobinuria, acute recurrent, autosomal recessive hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009993 MONDO:0003847 False embryonal rhabdomyosarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009998 MONDO:0018230 False Richieri Costa-Pereira syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010000 MONDO:0003847 False rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24520,7 +24515,6 @@ MONDO:0010055 MONDO:0003847 False spinal muscular atrophy with microcephaly and MONDO:0010057 MONDO:0001516 False spinal muscular atrophy, Ryukyuan type spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0001516 False scapuloperoneal spinal muscular atrophy, autosomal recessive spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010058 MONDO:0006025 False scapuloperoneal spinal muscular atrophy, autosomal recessive autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010058 MONDO:0024257 False scapuloperoneal spinal muscular atrophy, autosomal recessive hereditary motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010061 MONDO:0020047 False autosomal recessive cerebellar ataxia-blindness-deafness syndrome autosomal recessive syndromic cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0002254 False corneal-cerebellar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010063 MONDO:0004884 False corneal-cerebellar syndrome eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25028,9 +25022,7 @@ MONDO:0010790 MONDO:0002254 False MERRF syndrome syndromic disease UNSUPPORTED-M MONDO:0010790 MONDO:0002320 False MERRF syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010790 MONDO:0100033 False MERRF syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010790 MONDO:0100545 False MERRF syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010791 MONDO:0000866 False myoglobinuria, recurrent hereditary myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0020504 False myoglobinuria, recurrent hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010791 MONDO:0700223 False myoglobinuria, recurrent hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010793 MONDO:0003847 False nephropathy, chronic tubulointerstitial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010794 MONDO:0100033 False NARP syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010796 MONDO:0005180 False Parkinson disease, mitochondrial Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -25768,10 +25760,11 @@ MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndr MONDO:0011887 MONDO:0003847 False cataract, congenital, with mental impairment and dentate gyrus atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011892 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011893 MONDO:0019587 False autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011893 MONDO:0019587 False autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0005110 False idiopathic hypereosinophilic syndrome idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011896 MONDO:0020573 False Parkinson disease 11, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011897 MONDO:0700276 False leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome POLR3A-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011898 MONDO:0012014 False Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease recessive intermediate A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011899 MONDO:0010908 False Noonan syndrome-like disorder with loose anagen hair loose anagen syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011899 MONDO:0015160 False Noonan syndrome-like disorder with loose anagen hair multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26142,6 +26135,7 @@ MONDO:0012508 MONDO:0001902 False agammaglobulinemia-microcephaly-craniosynostos MONDO:0012511 MONDO:0003847 False preterm premature rupture of the membranes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012515 MONDO:0020367 False glaucoma 1, open angle, M juvenile open angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012517 MONDO:0100517 False Gaucher disease due to saposin C deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012518 MONDO:0015286 False congenital myasthenic syndrome 12 congenital disorder of glycosylation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012519 MONDO:0022752 False Rubinstein-Taybi syndrome due to 16p13.3 microdeletion chromosome 16p13.3 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012520 MONDO:0001933 False insulin-resistance syndrome type A endocrine pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012520 MONDO:0003847 False insulin-resistance syndrome type A hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26315,6 +26309,7 @@ MONDO:0012795 MONDO:0003847 False hypophosphatemic rickets and hyperparathyroidi MONDO:0012796 MONDO:1040052 False retinitis pigmentosa 41 PROM1-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012798 MONDO:0003847 False deafness, unilateral, with delayed endolymphatic hydrops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012800 MONDO:0011114 False trichoepithelioma, multiple familial, 2 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012805 MONDO:0017706 False childhood onset GLUT1 deficiency syndrome 2 disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012809 MONDO:0003847 False histiocytoma, Angiomatoid fibrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012809 MONDO:0005509 False histiocytoma, Angiomatoid fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012814 MONDO:0003847 False diastasis recti and weakness of the linea alba hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26823,6 +26818,8 @@ MONDO:0013696 MONDO:0016884 False chromosome 2p16.3 deletion syndrome partial de MONDO:0013696 MONDO:0100545 False chromosome 2p16.3 deletion syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013700 MONDO:0002356 False pancreatic triacylglycerol lipase deficiency pancreas disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013705 MONDO:0019502 False intellectual disability, autosomal recessive 19 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0013711 MONDO:0002254 False peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013711 MONDO:0003847 False peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013713 MONDO:0020573 False dengue virus, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013715 MONDO:0017593 False amyotrophic lateral sclerosis type 16 juvenile amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013720 MONDO:0000015 False complement component 4b deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26832,6 +26829,8 @@ MONDO:0013721 MONDO:0015699 False complement component 4a deficiency immunodefic MONDO:0013722 MONDO:0002254 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013722 MONDO:0005039 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013722 MONDO:0005151 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013722 MONDO:0700277 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism POLR3B-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013722 MONDO:0700282 False hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism POLR3-related leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013723 MONDO:0000108 False bacteremia, susceptibility to, 1 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013724 MONDO:0000108 False bacteremia, susceptibility to, 2 bacteremia, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013726 MONDO:0100198 False encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27334,6 +27333,8 @@ MONDO:0014647 MONDO:0005500 False developmental and epileptic encephalopathy, 50 MONDO:0014648 MONDO:0019502 False Al-Raqad syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014656 MONDO:0018002 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014662 MONDO:0002320 False congenital insensitivity to pain-hypohidrosis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014666 MONDO:0700278 False hypomyelinating leukodystrophy 11 POLR1C-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014666 MONDO:0700282 False hypomyelinating leukodystrophy 11 POLR3-related leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014671 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6B motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014671 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6B hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014672 MONDO:0800064 False osteogenesis imperfecta type 17 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31946,7 +31947,7 @@ MONDO:0032829 MONDO:0100500 False neurodevelopmental disorder with hypotonia and MONDO:0032830 MONDO:0003847 False snijders blok-fisher syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032832 MONDO:0003847 False intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032833 MONDO:0003847 False lower urinary tract obstruction, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032836 MONDO:0003847 False weiss-kruszka syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032836 MONDO:0003847 False Weiss-Kruszka syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032838 MONDO:0100500 False neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032841 MONDO:0003847 False Usher syndrome, type 1M hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032843 MONDO:0003847 False oculopharyngeal myopathy with leukoencephalopathy 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32499,6 +32500,7 @@ MONDO:0043303 MONDO:0024422 False hyperacusis auditory perceptual disorders UNSU MONDO:0043310 MONDO:0001941 False amaurosis fugax blindness (disorder) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0020590 False aquarium granuloma mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043314 MONDO:0024295 False aquarium granuloma skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043317 MONDO:1010096 False amyopathic dermatomyositis clinically amyopathic dermatomyositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0002254 False piriformis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0003615 False piriformis syndrome nerve compression syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043320 MONDO:0024333 False piriformis syndrome sciatica UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33408,6 +33410,9 @@ MONDO:0700248 MONDO:0020702 False epidermolytic hyperkeratosis 2A, autosomal dom MONDO:0700248 MONDO:0958184 False epidermolytic hyperkeratosis 2A, autosomal dominant epidermolytic hyperkeratosis 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700275 MONDO:0003847 False prostate cancer, hereditary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700275 MONDO:0008315 False prostate cancer, hereditary prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700279 MONDO:0000396 False spastic triplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700280 MONDO:0021673 False post-treatment Lyme disease syndrome post-bacterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700283 MONDO:0000400 False ataxic diplegic cerebral palsy mixed cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800001 MONDO:0020573 False delayed sleep phase syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800026 MONDO:0002254 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0002320 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -33612,6 +33617,7 @@ MONDO:0850225 MONDO:0004789 False autoimmune cholangitis cholangitis UNSUPPORTED MONDO:0850345 MONDO:0006279 False lung pleomorphic carcinoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850347 MONDO:0005611 False bladder sarcomatoid transitional cell carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850415 MONDO:0100150 False rhabdomyolysis-myalgia syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0858939 MONDO:1010030 False diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype pediatric high-grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858950 MONDO:0043510 False traumatic brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858997 MONDO:0004992 False cancer of unknown primary site cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859000 MONDO:0015159 False SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -34007,6 +34013,9 @@ MONDO:0975752 MONDO:0024296 False littoral cell hemangioma of the spleen vascula MONDO:1010000 MONDO:0005550 False pythiosis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1030001 MONDO:0020573 False epilepsy, juvenile absence, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1030002 MONDO:0022800 False dysplasia of the proximal femoral epiphyses type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1030007 MONDO:0005044 False hypertensive urgency hypertensive disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1030009 MONDO:0004981 False persistent atrial fibrillation atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:1030010 MONDO:0011057 False precerebral artery stenosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1040002 MONDO:0019716 False PIK3CA-related overgrowth spectrum overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1040016 MONDO:0011057 False cerebral artery stenosis cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1040017 MONDO:0005020 False intestinal fistula intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index 0335ad43..703d15e3 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -9,47 +9,31 @@ MONDO:0958360 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:e MONDO:0968993 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease MONDO:0005108 MONDO:0968994 borna disease DOID:5154 MONDO:equivalentTo borna disease MONDO:0005108|MONDO:0002602 MONDO:0970991 papilledema DOID:146 MONDO:equivalentTo papilledema MONDO:0002135 -MONDO:0971031 auto-brewery syndrome DOID:0081455 MONDO:equivalentTo auto-brewery syndrome An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. MONDO:0006504 -MONDO:0971032 bladder fermentation syndrome DOID:0081456 MONDO:equivalentTo bladder fermentation syndrome An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. MONDO:0006504 -MONDO:0971033 intrathyroid thymic carcinoma DOID:0081457 MONDO:equivalentTo intrathyroid thymic carcinoma A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. MONDO:0015075 -MONDO:0971034 thyroid gland cribriform morular carcinoma DOID:0081458 MONDO:equivalentTo thyroid gland cribriform morular carcinoma A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. MONDO:0015075 -MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma DOID:0081459 MONDO:equivalentTo thyroid gland mixed medullary and follicular cell-derived carcinoma A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. MONDO:0015075 -MONDO:0971036 thyroid gland mucinous carcinoma DOID:0081460 MONDO:equivalentTo thyroid gland mucinous carcinoma A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. MONDO:0015075 MONDO:0971183 autosomal recessive pseudohypoaldosteronism type 1 DOID:0060854 MONDO:equivalentTo autosomal recessive pseudohypoaldosteronism type 1 MONDO:0018638|MONDO:0006025 MONDO:0975707 idiopathic pulmonary fibrosis DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. MONDO:0002771|MONDO:0000426 MONDO:0975708 dialysis disequilibrium syndrome DOID:0070564 MONDO:equivalentTo dialysis disequilibrium syndrome MONDO:0002254 -MONDO:0975709 spermatogenic failure 66 DOID:0070565 MONDO:equivalentTo spermatogenic failure 66 MONDO:0015746|MONDO:0006025 -MONDO:0975710 spermatogenic failure 67 DOID:0070566 MONDO:equivalentTo spermatogenic failure 67 MONDO:0015746|MONDO:0006025 -MONDO:0975711 spermatogenic failure 68 DOID:0070567 MONDO:equivalentTo spermatogenic failure 68 MONDO:0004983|MONDO:0006025 -MONDO:0975712 spermatogenic failure 69 DOID:0070568 MONDO:equivalentTo spermatogenic failure 69 MONDO:0004983|MONDO:0006025 -MONDO:0975713 spermatogenic failure 70 DOID:0070569 MONDO:equivalentTo spermatogenic failure 70 MONDO:0004983|MONDO:0006025 -MONDO:0975714 spermatogenic failure 71 DOID:0070570 MONDO:equivalentTo spermatogenic failure 71 MONDO:0004983|MONDO:0006025 -MONDO:0975715 spermatogenic failure 72 DOID:0070571 MONDO:equivalentTo spermatogenic failure 72 MONDO:0004983|MONDO:0006025 -MONDO:0975716 spermatogenic failure 73 DOID:0070572 MONDO:equivalentTo spermatogenic failure 73 MONDO:0004983|MONDO:0006025 -MONDO:0975717 spermatogenic failure 74 DOID:0070573 MONDO:equivalentTo spermatogenic failure 74 MONDO:0004983|MONDO:0006025 -MONDO:0975718 spermatogenic failure 75 DOID:0070574 MONDO:equivalentTo spermatogenic failure 75 MONDO:0004983|MONDO:0006025 -MONDO:0975719 spermatogenic failure 76 DOID:0070575 MONDO:equivalentTo spermatogenic failure 76 MONDO:0004983|MONDO:0006025 -MONDO:0975720 spermatogenic failure 77 DOID:0070576 MONDO:equivalentTo spermatogenic failure 77 MONDO:0004983|MONDO:0006025 -MONDO:0975721 spermatogenic failure 78 DOID:0070577 MONDO:equivalentTo spermatogenic failure 78 MONDO:0004983|MONDO:0006025 -MONDO:0975722 spermatogenic failure 79 DOID:0070578 MONDO:equivalentTo spermatogenic failure 79 MONDO:0004983|MONDO:0006025 -MONDO:0975723 spermatogenic failure 80 DOID:0070579 MONDO:equivalentTo spermatogenic failure 80 MONDO:0004983|MONDO:0006025 -MONDO:0975724 spermatogenic failure 81 DOID:0070580 MONDO:equivalentTo spermatogenic failure 81 MONDO:0004983|MONDO:0006025 -MONDO:0975725 spermatogenic failure 82 DOID:0070581 MONDO:equivalentTo spermatogenic failure 82 MONDO:0004983|MONDO:0006025 -MONDO:0975726 spermatogenic failure 83 DOID:0070582 MONDO:equivalentTo spermatogenic failure 83 MONDO:0004983|MONDO:0006025 -MONDO:0975727 spermatogenic failure 84 DOID:0070583 MONDO:equivalentTo spermatogenic failure 84 MONDO:0004983|MONDO:0006025 -MONDO:0975728 spermatogenic failure 85 DOID:0070584 MONDO:equivalentTo spermatogenic failure 85 MONDO:0015746|MONDO:0006025 -MONDO:0975729 spermatogenic failure 86 DOID:0070585 MONDO:equivalentTo spermatogenic failure 86 MONDO:0004983|MONDO:0006025 -MONDO:0975730 spermatogenic failure 87 DOID:0070586 MONDO:equivalentTo spermatogenic failure 87 MONDO:0004983|MONDO:0006025 -MONDO:0975731 spermatogenic failure 88 DOID:0070587 MONDO:equivalentTo spermatogenic failure 88 MONDO:0004983|MONDO:0006025 -MONDO:0975732 spermatogenic failure 89 DOID:0070588 MONDO:equivalentTo spermatogenic failure 89 MONDO:0004983|MONDO:0006025 -MONDO:0975733 spermatogenic failure 90 DOID:0070589 MONDO:equivalentTo spermatogenic failure 90 MONDO:0004983|MONDO:0006025 -MONDO:0975734 spermatogenic failure 91 DOID:0070590 MONDO:equivalentTo spermatogenic failure 91 MONDO:0004983|MONDO:0006025 -MONDO:0975735 spermatogenic failure 92 DOID:0070591 MONDO:equivalentTo spermatogenic failure 92 MONDO:0004983|MONDO:0006025 -MONDO:0975736 spermatogenic failure 93 DOID:0070592 MONDO:equivalentTo spermatogenic failure 93 MONDO:0004983|MONDO:0006025 -MONDO:0975737 spermatogenic failure 94 DOID:0070593 MONDO:equivalentTo spermatogenic failure 94 MONDO:0004983|MONDO:0006025 -MONDO:0975738 spermatogenic failure 95 DOID:0070594 MONDO:equivalentTo spermatogenic failure 95 MONDO:0004983|MONDO:0006025 -MONDO:0975739 x-linked spermatogenic failure 4 DOID:0070595 MONDO:equivalentTo X-linked spermatogenic failure 4 MONDO:0004983|MONDO:0000425 -MONDO:0975740 x-linked spermatogenic failure 5 DOID:0070596 MONDO:equivalentTo X-linked spermatogenic failure 5 MONDO:0004983|MONDO:0000425 -MONDO:0975741 x-linked spermatogenic failure 6 DOID:0070597 MONDO:equivalentTo X-linked spermatogenic failure 6 MONDO:0004983|MONDO:0000425 -MONDO:0975742 x-linked spermatogenic failure 7 DOID:0070598 MONDO:equivalentTo X-linked spermatogenic failure 7 MONDO:0004983|MONDO:0020605 -MONDO:0975743 x-linked spermatogenic failure 8 DOID:0070599 MONDO:equivalentTo X-linked spermatogenic failure 8 MONDO:0004983|MONDO:0000425 +MONDO:0975763 digenic dyskeratosis congenita DOID:0060984 MONDO:equivalentTo digenic dyskeratosis congenita MONDO:0015780 +MONDO:0975764 preaxial polydactyly type iv DOID:0060985 MONDO:equivalentTo preaxial polydactyly type IV MONDO:0021003|MONDO:0000426 +MONDO:0975765 preaxial polydactyly ii DOID:0060986 MONDO:equivalentTo preaxial polydactyly II MONDO:0000426|MONDO:0021003 +MONDO:0975766 preaxial polydactyly i DOID:0060987 MONDO:equivalentTo preaxial polydactyly I MONDO:0021003|MONDO:0006025 +MONDO:0975767 pancreatic agenesis 2 DOID:0060988 MONDO:equivalentTo pancreatic agenesis 2 MONDO:0002356|MONDO:0006025 +MONDO:0975768 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 DOID:0060989 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:0002254|MONDO:0000426 +MONDO:0975769 congenital disorder of deglycosylation DOID:0060991 MONDO:equivalentTo congenital disorder of deglycosylation MONDO:0019214 +MONDO:0975770 bent bone dysplasia syndrome 1 DOID:0060992 MONDO:equivalentTo bent bone dysplasia syndrome 1 MONDO:0000833|MONDO:0000426 +MONDO:0975771 bent bone dysplasia syndrome 2 DOID:0060993 MONDO:equivalentTo bent bone dysplasia syndrome 2 MONDO:0000833|MONDO:0006025 +MONDO:0975772 encephalopathy due to defective mitochondrial and peroxisomal fission 2 DOID:0060994 MONDO:equivalentTo encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:0002254|MONDO:0006025 +MONDO:0975773 intellectual disability and myopathy syndrome DOID:0070600 MONDO:equivalentTo intellectual disability and myopathy syndrome MONDO:0002254 +MONDO:0975774 autosomal dominant nonsyndromic deafness 37 DOID:0070601 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 37 MONDO:0019587 +MONDO:0975775 autosomal dominant nonsyndromic deafness 80 DOID:0070602 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 80 MONDO:0019587 +MONDO:0975776 autosomal dominant nonsyndromic deafness 82 DOID:0070603 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 82 MONDO:0019587 +MONDO:0975777 autosomal dominant nonsyndromic deafness 84 DOID:0070604 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 84 MONDO:0019587 +MONDO:0975778 autosomal dominant nonsyndromic deafness 85 DOID:0070605 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 85 MONDO:0019587 +MONDO:0975779 autosomal dominant nonsyndromic deafness 87 DOID:0070606 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 87 MONDO:0019587 +MONDO:0975780 autosomal dominant nonsyndromic deafness 90 DOID:0070607 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 90 MONDO:0019587 +MONDO:0975781 autosomal dominant nonsyndromic deafness 81 DOID:0070608 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 81 MONDO:0019587 +MONDO:0975782 autosomal dominant nonsyndromic deafness 83 DOID:0070609 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 83 MONDO:0019587 +MONDO:0975783 autosomal dominant nonsyndromic deafness 86 DOID:0070610 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 86 MONDO:0019587 +MONDO:0975784 autosomal dominant nonsyndromic deafness 88 DOID:0070611 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 88 MONDO:0019587 +MONDO:0975785 autosomal dominant nonsyndromic deafness 89 DOID:0070612 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 89 MONDO:0019587 +MONDO:0975786 familial renal glucosuria DOID:0070613 MONDO:equivalentTo familial renal glucosuria MONDO:0000426|MONDO:0009297|MONDO:0006025 +MONDO:0975787 chromosome 11 partial duplication syndrome DOID:0070614 MONDO:equivalentTo chromosome 11 partial duplication syndrome MONDO:0000762 diff --git a/src/ontology/slurp/icd10cm.tsv b/src/ontology/slurp/icd10cm.tsv index 85bf0f3f..cd614f8f 100644 --- a/src/ontology/slurp/icd10cm.tsv +++ b/src/ontology/slurp/icd10cm.tsv @@ -1892,3 +1892,5 @@ MONDO:0957527 obstructive hypertrophic cardiomyopathy ICD10CM:I42.1 MONDO:equiva MONDO:0971039 besnier's prurigo ICD10CM:L20.0 MONDO:equivalentTo Besnier's prurigo MONDO:0004980 MONDO:0971040 other atopic dermatitis ICD10CM:L20.8 MONDO:equivalentTo Other atopic dermatitis MONDO:0004980 MONDO:0971041 atopic dermatitis, unspecified ICD10CM:L20.9 MONDO:equivalentTo Atopic dermatitis, unspecified MONDO:0004980 +MONDO:0975789 longstanding persistent atrial fibrillation ICD10CM:I48.11 MONDO:equivalentTo Longstanding persistent atrial fibrillation MONDO:1030009 +MONDO:0975790 other persistent atrial fibrillation ICD10CM:I48.19 MONDO:equivalentTo Other persistent atrial fibrillation MONDO:1030009 diff --git a/src/ontology/slurp/icd11foundation.tsv b/src/ontology/slurp/icd11foundation.tsv index 0ce57746..f5a25cab 100644 --- a/src/ontology/slurp/icd11foundation.tsv +++ b/src/ontology/slurp/icd11foundation.tsv @@ -3756,7 +3756,6 @@ MONDO:0974618 spondylometaphyseal dysplasia - bowed forearms - facial dysmorphis MONDO:0974619 ideational apraxia icd11.foundation:541312183 MONDO:equivalentTo Ideational apraxia MONDO:0000665 MONDO:0974620 congenital hypophosphatasia icd11.foundation:542239706 MONDO:equivalentTo Congenital hypophosphatasia MONDO:0018570 MONDO:0974621 acute on chronic cholecystitis icd11.foundation:542292436 MONDO:equivalentTo Acute on chronic cholecystitis MONDO:0043994 -MONDO:0974622 paroxysmal atrial fibrillation icd11.foundation:542703670 MONDO:equivalentTo Paroxysmal atrial fibrillation Recurrent AF (>=2 episodes) that terminates spontaneously within 7 days or less (usually within 24 hours). MONDO:0004981 MONDO:0974623 unspecified frostbite of trunk, not elsewhere classified icd11.foundation:542724831 MONDO:equivalentTo Unspecified frostbite of trunk, not elsewhere classified MONDO:0800177 MONDO:0974624 essential (primary) hypertension, unspecified, with mention of hypertensive crisis icd11.foundation:543412184 MONDO:equivalentTo Essential (primary) hypertension, unspecified, with mention of hypertensive crisis "This is when the blood pressure in the arteries is elevated, and is essential (primary), unspecified, with mention of hypertensive crisis. " MONDO:0001134 diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index 3307640f..c6b79aeb 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -1,2211 +1,2213 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0853241 primary central nervous system neoplasm NCIT:C102871 MONDO:equivalentTo Primary Central Nervous System Neoplasm MONDO:0006130 -MONDO:0853254 adrenal cortical carcinoma by ensat stage NCIT:C104030 MONDO:equivalentTo Adrenal Cortical Carcinoma by ENSAT Stage MONDO:0006639 -MONDO:0853255 ovarian high grade serous adenocarcinoma NCIT:C105555 MONDO:equivalentTo Ovarian High Grade Serous Adenocarcinoma MONDO:0005211 -MONDO:0853256 ovarian low grade serous adenocarcinoma NCIT:C105556 MONDO:equivalentTo Ovarian Low Grade Serous Adenocarcinoma MONDO:0005211 +MONDO:0853241 primary central nervous system neoplasm NCIT:C102871 MONDO:equivalentTo Primary Central Nervous System Neoplasm A benign or malignant neoplasm that arises from the brain or the spinal cord. MONDO:0006130 +MONDO:0853254 adrenal cortical carcinoma by ensat stage NCIT:C104030 MONDO:equivalentTo Adrenal Cortical Carcinoma by ENSAT Stage A term that refers to the staging of adrenal cortical carcinoma according to the European Network for the Study of Adrenal Tumors (ENSAT). MONDO:0006639 +MONDO:0853255 ovarian high grade serous adenocarcinoma NCIT:C105555 MONDO:equivalentTo Ovarian High Grade Serous Adenocarcinoma A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures. MONDO:0005211 +MONDO:0853256 ovarian low grade serous adenocarcinoma NCIT:C105556 MONDO:equivalentTo Ovarian Low Grade Serous Adenocarcinoma A slow-growing serous adenocarcinoma that arises from the ovary. It usually originates from borderline neoplastic processes or adenofibromas. It is characterized by the presence of low grade cytologic features and infrequent mitotic figures. MONDO:0005211 MONDO:0853260 uveal melanoma by gene expression profile NCIT:C111030 MONDO:equivalentTo Uveal Melanoma by Gene Expression Profile MONDO:0006486 -MONDO:0853262 glioblastoma by gene expression profile NCIT:C111691 MONDO:equivalentTo Glioblastoma by Gene Expression Profile MONDO:0018177 -MONDO:0853267 thymoma by masaoka-koga stage NCIT:C112006 MONDO:equivalentTo Thymoma by Masaoka-Koga Stage MONDO:0006456 -MONDO:0853279 uterine carcinosarcoma, homologous type NCIT:C113238 MONDO:equivalentTo Uterine Carcinosarcoma, Homologous Type MONDO:0006485 -MONDO:0853280 uterine carcinosarcoma, heterologous type NCIT:C113239 MONDO:equivalentTo Uterine Carcinosarcoma, Heterologous Type MONDO:0006485 -MONDO:0853284 main duct pancreatic intraductal papillary-mucinous neoplasm NCIT:C113664 MONDO:equivalentTo Main Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm MONDO:0004286 -MONDO:0853285 branch duct pancreatic intraductal papillary-mucinous neoplasm NCIT:C113665 MONDO:equivalentTo Branch Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm MONDO:0004286 -MONDO:0853286 mixed type pancreatic intraductal papillary-mucinous neoplasm NCIT:C113667 MONDO:equivalentTo Mixed Type Pancreatic Intraductal Papillary-Mucinous Neoplasm MONDO:0004286 -MONDO:0853303 adult undifferentiated high grade pleomorphic sarcoma of bone NCIT:C114782 MONDO:equivalentTo Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone MONDO:0002618 -MONDO:0853306 metastatic malignant neoplasm in the soft tissues NCIT:C114831 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Soft Tissues MONDO:0024880 -MONDO:0853313 adult epithelioid hemangioendothelioma NCIT:C114923 MONDO:equivalentTo Adult Epithelioid Hemangioendothelioma MONDO:0015523 -MONDO:0853316 central nervous system hodgkin lymphoma NCIT:C114951 MONDO:equivalentTo Central Nervous System Hodgkin Lymphoma MONDO:0004952|MONDO:0002571 -MONDO:0853326 adult fibrolamellar carcinoma NCIT:C114992 MONDO:equivalentTo Adult Fibrolamellar Carcinoma MONDO:0016216|MONDO:0006210 -MONDO:0853331 hepatocellular carcinoma by bclc stage NCIT:C115132 MONDO:equivalentTo Hepatocellular Carcinoma by BCLC Stage MONDO:0007256 -MONDO:0853337 adult myelodysplastic syndrome NCIT:C115153 MONDO:equivalentTo Adult Myelodysplastic Syndrome MONDO:0018881 -MONDO:0853343 distal urethral carcinoma NCIT:C115210 MONDO:equivalentTo Distal Urethral Carcinoma MONDO:0021327 -MONDO:0853344 familial testicular germ cell tumor NCIT:C115211 MONDO:equivalentTo Familial Testicular Germ Cell Tumor MONDO:0010108 -MONDO:0853348 proximal urethral carcinoma NCIT:C115334 MONDO:equivalentTo Proximal Urethral Carcinoma MONDO:0021327 -MONDO:0853359 invasive bladder urothelial carcinoma associated with urethral carcinoma NCIT:C115966 MONDO:equivalentTo Invasive Bladder Urothelial Carcinoma Associated with Urethral Carcinoma MONDO:0040678 -MONDO:0853386 congenital cystic hygroma NCIT:C116899 MONDO:equivalentTo Congenital Cystic Hygroma MONDO:0009761 -MONDO:0853405 anaplastic plasmacytoma NCIT:C118421 MONDO:equivalentTo Anaplastic Plasmacytoma MONDO:0005615|MONDO:0020633 -MONDO:0853427 adult penile carcinoma NCIT:C118820 MONDO:equivalentTo Adult Penile Carcinoma MONDO:0006360 -MONDO:0853431 adult salivary gland carcinoma NCIT:C118825 MONDO:equivalentTo Adult Salivary Gland Carcinoma MONDO:0000521 -MONDO:0853434 orbital melanoma NCIT:C118828 MONDO:equivalentTo Orbital Melanoma MONDO:0002889|MONDO:0005105 -MONDO:0853464 malignant kidney neoplasm except pelvis NCIT:C120456 MONDO:equivalentTo Malignant Kidney Neoplasm Except Pelvis MONDO:0002367 -MONDO:0853467 mammary-type myofibroblastoma NCIT:C121181 MONDO:equivalentTo Mammary-Type Myofibroblastoma MONDO:0040675 -MONDO:0853473 leiomyosarcoma of deep soft tissue NCIT:C121571 MONDO:equivalentTo Leiomyosarcoma of Deep Soft Tissue MONDO:0018078|MONDO:0005058 -MONDO:0853476 spindle cell/sclerosing rhabdomyosarcoma NCIT:C121654 MONDO:equivalentTo Spindle Cell/Sclerosing Rhabdomyosarcoma MONDO:0005212 -MONDO:0853478 soft tissue angiosarcoma NCIT:C121671 MONDO:equivalentTo Soft Tissue Angiosarcoma MONDO:0018078|MONDO:0016982 -MONDO:0853479 conventional schwannoma NCIT:C121677 MONDO:equivalentTo Conventional Schwannoma MONDO:0002546 -MONDO:0853481 solitary circumscribed neuroma NCIT:C121681 MONDO:equivalentTo Solitary Circumscribed Neuroma MONDO:0002547|MONDO:0000648 -MONDO:0853483 hybrid nerve sheath tumor NCIT:C121686 MONDO:equivalentTo Hybrid Nerve Sheath Tumor MONDO:0021043|MONDO:0002547|MONDO:0000648 -MONDO:0853491 malignant mixed tumor, not otherwise specified NCIT:C121787 MONDO:equivalentTo Malignant Mixed Tumor, Not Otherwise Specified MONDO:0003158|MONDO:0005853 -MONDO:0853492 benign phosphaturic mesenchymal tumor NCIT:C121788 MONDO:equivalentTo Benign Phosphaturic Mesenchymal Tumor MONDO:0006368|MONDO:0000654 -MONDO:0853493 malignant phosphaturic mesenchymal tumor NCIT:C121789 MONDO:equivalentTo Malignant Phosphaturic Mesenchymal Tumor MONDO:0006368|MONDO:0002927 -MONDO:0853494 sclerosing pecoma NCIT:C121790 MONDO:equivalentTo Sclerosing PEComa MONDO:0006359 -MONDO:0853495 undifferentiated soft tissue sarcoma NCIT:C121793 MONDO:equivalentTo Undifferentiated Soft Tissue Sarcoma MONDO:0018078 -MONDO:0853498 osteochondromyxoma NCIT:C121842 MONDO:equivalentTo Osteochondromyxoma MONDO:0024470|MONDO:0000631 -MONDO:0853499 subungual exostosis NCIT:C121844 MONDO:equivalentTo Subungual Exostosis MONDO:0024470 -MONDO:0853500 bizarre parosteal osteochondromatous proliferation NCIT:C121845 MONDO:equivalentTo Bizarre Parosteal Osteochondromatous Proliferation MONDO:0024470 -MONDO:0853501 intermediate chondrogenic neoplasm NCIT:C121846 MONDO:equivalentTo Intermediate Chondrogenic Neoplasm MONDO:0024469 -MONDO:0853502 chondrosarcoma, grade 2 NCIT:C121870 MONDO:equivalentTo Chondrosarcoma, Grade 2 MONDO:0008977 -MONDO:0853503 chondrosarcoma, grade 3 NCIT:C121871 MONDO:equivalentTo Chondrosarcoma, Grade 3 MONDO:0008977 -MONDO:0853504 benign notochordal cell tumor NCIT:C121901 MONDO:equivalentTo Benign Notochordal Cell Tumor MONDO:0002597|MONDO:0000631 -MONDO:0853507 intermediate osteogenic neoplasm NCIT:C121925 MONDO:equivalentTo Intermediate Osteogenic Neoplasm MONDO:0045053 -MONDO:0853508 intermediate bone neoplasm NCIT:C121926 MONDO:equivalentTo Intermediate Bone Neoplasm MONDO:0019060 -MONDO:0853510 primary bone non-hodgkin lymphoma NCIT:C121930 MONDO:equivalentTo Primary Bone Non-Hodgkin Lymphoma MONDO:0017814|MONDO:0018908 -MONDO:0853512 bone epithelioid hemangioendothelioma NCIT:C121941 MONDO:equivalentTo Bone Epithelioid Hemangioendothelioma MONDO:0024499|MONDO:0002129|MONDO:0015523 -MONDO:0853515 acute lymphoblastic leukemia by gene expression profile NCIT:C121973 MONDO:equivalentTo Acute Lymphoblastic Leukemia by Gene Expression Profile MONDO:0004967 -MONDO:0853523 borderline ovarian serous tumor/atypical proliferative ovarian serous tumor NCIT:C122584 MONDO:equivalentTo Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor MONDO:0020662 -MONDO:0853524 borderline ovarian serous tumor-micropapillary variant/non-invasive low grade ovarian serous carcinoma NCIT:C122585 MONDO:equivalentTo Borderline Ovarian Serous Tumor-Micropapillary Variant/Non-Invasive Low Grade Ovarian Serous Carcinoma MONDO:0020662 -MONDO:0853525 infant leukemia NCIT:C122603 MONDO:equivalentTo Infant Leukemia MONDO:0004355 -MONDO:0853528 childhood acute myeloid leukemia not otherwise specified NCIT:C122625 MONDO:equivalentTo Childhood Acute Myeloid Leukemia Not Otherwise Specified MONDO:0004996|MONDO:0015667 -MONDO:0853529 hypoplastic myelodysplastic syndrome NCIT:C122686 MONDO:equivalentTo Hypoplastic Myelodysplastic Syndrome MONDO:0018881 -MONDO:0853530 cytogenetically normal acute myeloid leukemia NCIT:C122687 MONDO:equivalentTo Cytogenetically Normal Acute Myeloid Leukemia MONDO:0018874 -MONDO:0853532 childhood acute myeloid leukemia with abnormalities of chromosome 5q NCIT:C122725 MONDO:equivalentTo Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q MONDO:0004996 -MONDO:0853533 childhood acute myeloid leukemia with abnormalities of chromosome 7 NCIT:C122726 MONDO:equivalentTo Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 MONDO:0004996 -MONDO:0853659 childhood lymphomatoid granulomatosis NCIT:C123392 MONDO:equivalentTo Childhood Lymphomatoid Granulomatosis MONDO:0019466 -MONDO:0853660 childhood langerhans cell histiocytosis with risk organ involvement NCIT:C123395 MONDO:equivalentTo Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement MONDO:0017025 -MONDO:0853661 childhood langerhans cell histiocytosis without risk organ involvement NCIT:C123396 MONDO:equivalentTo Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement MONDO:0017025 -MONDO:0853668 fusion-positive rhabdomyosarcoma NCIT:C123735 MONDO:equivalentTo Fusion-Positive Rhabdomyosarcoma MONDO:0005212 -MONDO:0853669 fusion-negative rhabdomyosarcoma NCIT:C123736 MONDO:equivalentTo Fusion-Negative Rhabdomyosarcoma MONDO:0005212 -MONDO:0853671 refractory malignant germ cell tumor NCIT:C123739 MONDO:equivalentTo Refractory Malignant Germ Cell Tumor MONDO:0006290|MONDO:0036501 -MONDO:0853673 childhood germinomatous germ cell tumor NCIT:C123838 MONDO:equivalentTo Childhood Germinomatous Germ Cell Tumor MONDO:0003751|MONDO:0020580 -MONDO:0853675 childhood nongerminomatous germ cell tumor NCIT:C123841 MONDO:equivalentTo Childhood Nongerminomatous Germ Cell Tumor MONDO:0003751|MONDO:0021656 -MONDO:0853680 childhood mixed germ cell tumor NCIT:C123848 MONDO:equivalentTo Childhood Mixed Germ Cell Tumor MONDO:0004479|MONDO:0015864|MONDO:0005853 -MONDO:0853693 childhood astrocytoma NCIT:C124275 MONDO:equivalentTo Childhood Astrocytoma MONDO:0002505|MONDO:0019781 -MONDO:0853694 childhood atypical choroid plexus papilloma NCIT:C124291 MONDO:equivalentTo Childhood Atypical Choroid Plexus Papilloma MONDO:0002684|MONDO:0024744 -MONDO:0853721 ovarian adenomatoid tumor NCIT:C126331 MONDO:equivalentTo Ovarian Adenomatoid Tumor MONDO:0004230|MONDO:0000646 -MONDO:0853728 chronic eosinophilic leukemia with fip1l1-pdgfra NCIT:C126351 MONDO:equivalentTo Chronic Eosinophilic Leukemia with FIP1L1-PDGFRA MONDO:0015689|MONDO:0001014 -MONDO:0853729 primary peritoneal high grade serous adenocarcinoma NCIT:C126353 MONDO:equivalentTo Primary Peritoneal High Grade Serous Adenocarcinoma MONDO:0006386 -MONDO:0853730 primary peritoneal low grade serous adenocarcinoma NCIT:C126354 MONDO:equivalentTo Primary Peritoneal Low Grade Serous Adenocarcinoma MONDO:0006386 -MONDO:0853731 peritoneal desmoplastic small round cell tumor NCIT:C126356 MONDO:equivalentTo Peritoneal Desmoplastic Small Round Cell Tumor MONDO:0019373|MONDO:0002087 -MONDO:0853732 pelvic fibromatosis NCIT:C126358 MONDO:equivalentTo Pelvic Fibromatosis MONDO:0007608 -MONDO:0853733 abdominal inflammatory myofibroblastic tumor NCIT:C126359 MONDO:equivalentTo Abdominal Inflammatory Myofibroblastic Tumor MONDO:0015798 -MONDO:0853734 thyroid gland cribriform morular carcinoma NCIT:C126408 MONDO:equivalentTo Thyroid Gland Cribriform Morular Carcinoma MONDO:0015075 -MONDO:0853735 thyroid gland papillary carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma NCIT:C126410 MONDO:equivalentTo Thyroid Gland Papillary Carcinoma with Fibromatosis/Fasciitis-Like/Desmoid-Type Stroma MONDO:0005075 -MONDO:0853736 fallopian tube high grade serous adenocarcinoma NCIT:C126456 MONDO:equivalentTo Fallopian Tube High Grade Serous Adenocarcinoma MONDO:0006208 -MONDO:0853738 fallopian tube lymphoma NCIT:C126464 MONDO:equivalentTo Fallopian Tube Lymphoma MONDO:0002158|MONDO:0017207 -MONDO:0853742 broad ligament serous adenocarcinoma NCIT:C126479 MONDO:equivalentTo Broad Ligament Serous Adenocarcinoma MONDO:0002741|MONDO:0005278 -MONDO:0853743 oropharyngeal poorly differentiated carcinoma NCIT:C126750 MONDO:equivalentTo Oropharyngeal Poorly Differentiated Carcinoma MONDO:0044704 -MONDO:0853745 endometrial dedifferentiated carcinoma NCIT:C126769 MONDO:equivalentTo Endometrial Dedifferentiated Carcinoma MONDO:0002447 -MONDO:0853748 uterine corpus hydropic leiomyoma NCIT:C126975 MONDO:equivalentTo Uterine Corpus Hydropic Leiomyoma MONDO:0007886 -MONDO:0853749 uterine corpus high grade endometrial stromal sarcoma NCIT:C126998 MONDO:equivalentTo Uterine Corpus High Grade Endometrial Stromal Sarcoma MONDO:0002923 -MONDO:0853751 benign uterine corpus pecoma NCIT:C127071 MONDO:equivalentTo Benign Uterine Corpus PEComa MONDO:0004221|MONDO:0021525|MONDO:0020581 -MONDO:0853753 uterine corpus germ cell tumor NCIT:C127077 MONDO:equivalentTo Uterine Corpus Germ Cell Tumor MONDO:0021254|MONDO:0018201 -MONDO:0853764 cervical neuroendocrine neoplasm NCIT:C128041 MONDO:equivalentTo Cervical Neuroendocrine Neoplasm MONDO:0019496|MONDO:0021230 -MONDO:0853771 vaginal papillary carcinoma NCIT:C128060 MONDO:equivalentTo Vaginal Papillary Carcinoma MONDO:0002979|MONDO:0006490 -MONDO:0853775 ovarian cancer by figo stage NCIT:C128081 MONDO:equivalentTo Ovarian Cancer by FIGO Stage MONDO:0005140 -MONDO:0853776 ovarian cancer by ajcc v6 and v7 stage NCIT:C128106 MONDO:equivalentTo Ovarian Cancer by AJCC v6 and v7 Stage MONDO:0005140 -MONDO:0853779 vaginal germ cell tumor NCIT:C128112 MONDO:equivalentTo Vaginal Germ Cell Tumor MONDO:0005040|MONDO:0021050 -MONDO:0853781 vulvar squamous intraepithelial lesion, hpv-associated NCIT:C128142 MONDO:equivalentTo Vulvar Squamous Intraepithelial Lesion, HPV-Associated MONDO:0005198 -MONDO:0853784 vulvar adenocarcinoma of mammary gland type NCIT:C128162 MONDO:equivalentTo Vulvar Adenocarcinoma of Mammary Gland Type MONDO:0024336 -MONDO:0853787 vulvar mucinous adenocarcinoma, intestinal-type NCIT:C128166 MONDO:equivalentTo Vulvar Mucinous Adenocarcinoma, Intestinal-Type MONDO:0024336|MONDO:0006254|MONDO:0004957 -MONDO:0853788 vulvar keratoacanthoma NCIT:C128167 MONDO:equivalentTo Vulvar Keratoacanthoma MONDO:0024609|MONDO:0002527 -MONDO:0853797 vulvar germ cell tumor NCIT:C128294 MONDO:equivalentTo Vulvar Germ Cell Tumor MONDO:0005040|MONDO:0021049 -MONDO:0853835 b acute lymphoblastic leukemia, philadelphia chromosome negative NCIT:C128629 MONDO:equivalentTo B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative MONDO:0020511 -MONDO:0853837 nk-cell lymphoma, unclassifiable NCIT:C128697 MONDO:equivalentTo NK-Cell Lymphoma, Unclassifiable MONDO:0000430 -MONDO:0853840 cutaneous malignant melanoma 2 NCIT:C128801 MONDO:equivalentTo Cutaneous Malignant Melanoma 2 MONDO:0018961 -MONDO:0853846 glioblastoma, not otherwise specified NCIT:C129295 MONDO:equivalentTo Glioblastoma, Not Otherwise Specified MONDO:0018177 -MONDO:0853849 oligodendroglioma, idh-mutant and 1p/19q-codeleted NCIT:C129318 MONDO:equivalentTo Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted MONDO:0016695 -MONDO:0853850 oligodendroglioma, not otherwise specified NCIT:C129319 MONDO:equivalentTo Oligodendroglioma, Not Otherwise Specified MONDO:0016695 -MONDO:0853851 anaplastic oligodendroglioma, idh-mutant and 1p/19q-codeleted NCIT:C129321 MONDO:equivalentTo Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted MONDO:0016696 -MONDO:0853852 anaplastic oligodendroglioma, not otherwise specified NCIT:C129322 MONDO:equivalentTo Anaplastic Oligodendroglioma, Not Otherwise Specified MONDO:0016696 -MONDO:0853853 oligoastrocytoma, not otherwise specified NCIT:C129323 MONDO:equivalentTo Oligoastrocytoma, Not Otherwise Specified MONDO:0016702 -MONDO:0853854 anaplastic oligoastrocytoma, not otherwise specified NCIT:C129324 MONDO:equivalentTo Anaplastic Oligoastrocytoma, Not Otherwise Specified MONDO:0016703 -MONDO:0853855 diffuse glioma NCIT:C129325 MONDO:equivalentTo Diffuse Glioma MONDO:0021042 -MONDO:0853856 anaplastic pleomorphic xanthoastrocytoma NCIT:C129327 MONDO:equivalentTo Anaplastic Pleomorphic Xanthoastrocytoma MONDO:0019781|MONDO:0021640|MONDO:0020633 -MONDO:0853857 diffuse leptomeningeal glioneuronal tumor NCIT:C129424 MONDO:equivalentTo Diffuse Leptomeningeal Glioneuronal Tumor MONDO:0016729 -MONDO:0853858 multinodular and vacuolated neuronal tumor NCIT:C129427 MONDO:equivalentTo Multinodular and Vacuolated Neuronal Tumor MONDO:0021374|MONDO:0016729|MONDO:0021632 -MONDO:0853859 medulloblastoma molecular subtypes NCIT:C129439 MONDO:equivalentTo Medulloblastoma Molecular Subtypes MONDO:0007959 -MONDO:0853860 medulloblastoma, not otherwise specified NCIT:C129447 MONDO:equivalentTo Medulloblastoma, Not Otherwise Specified MONDO:0007959 -MONDO:0853861 small cell adenocarcinoma NCIT:C129449 MONDO:equivalentTo Small Cell Adenocarcinoma MONDO:0004970 -MONDO:0853862 central nervous system solitary fibrous tumor NCIT:C129526 MONDO:equivalentTo Central Nervous System Solitary Fibrous Tumor MONDO:0016238|MONDO:0003244 -MONDO:0853863 central nervous system mesenchymal chondrosarcoma NCIT:C129534 MONDO:equivalentTo Central Nervous System Mesenchymal Chondrosarcoma MONDO:0002217|MONDO:0006853 -MONDO:0853864 central nervous system epithelioid hemangioendothelioma NCIT:C129536 MONDO:equivalentTo Central Nervous System Epithelioid Hemangioendothelioma MONDO:0037740|MONDO:0015523 -MONDO:0853865 central nervous system angiolipoma NCIT:C129538 MONDO:equivalentTo Central Nervous System Angiolipoma MONDO:0003844|MONDO:0006085 -MONDO:0853866 central nervous system undifferentiated pleomorphic sarcoma NCIT:C129566 MONDO:equivalentTo Central Nervous System Undifferentiated Pleomorphic Sarcoma MONDO:0002217|MONDO:0002142 -MONDO:0853868 central nervous system anaplastic large cell lymphoma, alk-positive NCIT:C129598 MONDO:equivalentTo Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Positive MONDO:0006128|MONDO:0017602 -MONDO:0853869 central nervous system anaplastic large cell lymphoma, alk-negative NCIT:C129599 MONDO:equivalentTo Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Negative MONDO:0006128|MONDO:0017603 -MONDO:0853870 central nervous system intravascular large b-cell lymphoma NCIT:C129602 MONDO:equivalentTo Central Nervous System Intravascular Large B-Cell Lymphoma MONDO:0017596|MONDO:0020324 -MONDO:0853881 acute myeloid leukemia with biallelic cebpa mutation NCIT:C129782 MONDO:equivalentTo Acute Myeloid Leukemia with Biallelic CEBPA Mutation MONDO:0017894 -MONDO:0853882 acute myeloid leukemia with monoallelic cebpa mutation NCIT:C129783 MONDO:equivalentTo Acute Myeloid Leukemia with Monoallelic CEBPA Mutation MONDO:0017894 -MONDO:0853884 b lymphoblastic leukemia/lymphoma, bcr-abl1-like NCIT:C129787 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like MONDO:0035605 -MONDO:0853887 metastatic transitional cell carcinoma NCIT:C129828 MONDO:equivalentTo Metastatic Transitional Cell Carcinoma MONDO:0024879|MONDO:0006474 -MONDO:0853888 chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)(q31;p12) NCIT:C129852 MONDO:equivalentTo Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) MONDO:0015690 -MONDO:0853892 chronic myelomonocytic leukemia-0 NCIT:C130035 MONDO:equivalentTo Chronic Myelomonocytic Leukemia-0 MONDO:0020311 -MONDO:0853893 myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia NCIT:C130037 MONDO:equivalentTo Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia MONDO:0019157 -MONDO:0853894 b lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21 NCIT:C130039 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 MONDO:0035605 -MONDO:0853943 anastomosing hemangioma NCIT:C131760 MONDO:equivalentTo Anastomosing Hemangioma MONDO:0002407 -MONDO:0853956 acute megakaryoblastic leukemia with cbfa2t3-glis2 NCIT:C132109 MONDO:equivalentTo Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2 MONDO:0004996 -MONDO:0853959 small intestinal myeloid sarcoma NCIT:C132260 MONDO:equivalentTo Small Intestinal Myeloid Sarcoma MONDO:0000956|MONDO:0006861 -MONDO:0853961 atypical pituitary neuroendocrine tumor NCIT:C132296 MONDO:equivalentTo Atypical Pituitary Neuroendocrine Tumor MONDO:0006373 -MONDO:0853963 lip and oral cavity cancer by ajcc v8 stage NCIT:C132728 MONDO:equivalentTo Lip and Oral Cavity Cancer by AJCC v8 Stage MONDO:0023644 -MONDO:0853964 lip and oral cavity cancer by ajcc v6 and v7 stage NCIT:C132736 MONDO:equivalentTo Lip and Oral Cavity Cancer by AJCC v6 and v7 Stage MONDO:0023644 -MONDO:0853965 major salivary gland cancer by ajcc v7 stage NCIT:C132778 MONDO:equivalentTo Major Salivary Gland Cancer by AJCC v7 Stage MONDO:0006284 -MONDO:0853966 major salivary gland cancer by ajcc v8 stage NCIT:C132779 MONDO:equivalentTo Major Salivary Gland Cancer by AJCC v8 Stage MONDO:0006284 -MONDO:0853968 pharyngeal carcinoma by ajcc v8 stage NCIT:C132814 MONDO:equivalentTo Pharyngeal Carcinoma by AJCC v8 Stage MONDO:0021345 -MONDO:0853973 metastatic malignant germ cell tumor NCIT:C132854 MONDO:equivalentTo Metastatic Malignant Germ Cell Tumor MONDO:0006290|MONDO:0024880 -MONDO:0853979 sinonasal cancer by ajcc v8 stage NCIT:C133074 MONDO:equivalentTo Sinonasal Cancer by AJCC v8 Stage MONDO:0056819 -MONDO:0853980 lung adenofibroma NCIT:C133091 MONDO:equivalentTo Lung Adenofibroma MONDO:0021043|MONDO:0002732 -MONDO:0853981 laryngeal cancer by ajcc v8 stage NCIT:C133156 MONDO:equivalentTo Laryngeal Cancer by AJCC v8 Stage MONDO:0002358 -MONDO:0853984 cutaneous squamous cell carcinoma of the head and neck NCIT:C133252 MONDO:equivalentTo Cutaneous Squamous Cell Carcinoma of the Head and Neck MONDO:0002529|MONDO:0010150 -MONDO:0853986 esophageal cancer by ajcc v8 stage NCIT:C133399 MONDO:equivalentTo Esophageal Cancer by AJCC v8 Stage MONDO:0019086 -MONDO:0853991 gastroesophageal junction adenocarcinoma by ajcc v8 stage NCIT:C133548 MONDO:equivalentTo Gastroesophageal Junction Adenocarcinoma by AJCC v8 Stage MONDO:0003219 -MONDO:0853993 gastric cancer by ajcc v8 stage NCIT:C133638 MONDO:equivalentTo Gastric Cancer by AJCC v8 Stage MONDO:0004950 -MONDO:0853994 small intestinal cancer by ajcc v7 stage NCIT:C133716 MONDO:equivalentTo Small Intestinal Cancer by AJCC v7 Stage MONDO:0005522 -MONDO:0853996 appendix carcinoma by ajcc v7 stage NCIT:C133733 MONDO:equivalentTo Appendix Carcinoma by AJCC v7 Stage MONDO:0003196 -MONDO:0853997 anal canal cancer by ajcc v6 and v7 stage NCIT:C133787 MONDO:equivalentTo Anal Canal Cancer by AJCC v6 and v7 Stage MONDO:0007108 -MONDO:0853998 anal cancer by ajcc v8 stage NCIT:C133794 MONDO:equivalentTo Anal Cancer by AJCC v8 Stage MONDO:0003199 -MONDO:0854000 small intestinal adenocarcinoma by ajcc v8 stage NCIT:C133893 MONDO:equivalentTo Small Intestinal Adenocarcinoma by AJCC v8 Stage MONDO:0003198 -MONDO:0854002 appendix carcinoma by ajcc v8 stage NCIT:C134117 MONDO:equivalentTo Appendix Carcinoma by AJCC v8 Stage MONDO:0003196 -MONDO:0854009 colorectal cancer by ajcc v8 stage NCIT:C134180 MONDO:equivalentTo Colorectal Cancer by AJCC v8 Stage MONDO:0024331 -MONDO:0854013 intrahepatic cholangiocarcinoma by ajcc v7 stage NCIT:C134514 MONDO:equivalentTo Intrahepatic Cholangiocarcinoma by AJCC v7 Stage MONDO:0003210 -MONDO:0854014 hepatocellular carcinoma by ajcc v8 stage NCIT:C134515 MONDO:equivalentTo Hepatocellular Carcinoma by AJCC v8 Stage MONDO:0007256 -MONDO:0854017 intrahepatic bile duct cancer by ajcc v8 stage NCIT:C134604 MONDO:equivalentTo Intrahepatic Bile Duct Cancer by AJCC v8 Stage MONDO:0018531 -MONDO:0854018 gallbladder cancer by ajcc v8 stage NCIT:C134660 MONDO:equivalentTo Gallbladder Cancer by AJCC v8 Stage MONDO:0003220 -MONDO:0854019 hilar cholangiocarcinoma by ajcc v7 stage NCIT:C134742 MONDO:equivalentTo Hilar Cholangiocarcinoma by AJCC v7 Stage MONDO:0003345 -MONDO:0854020 hilar cholangiocarcinoma by ajcc v8 stage NCIT:C134743 MONDO:equivalentTo Hilar Cholangiocarcinoma by AJCC v8 Stage MONDO:0003345 -MONDO:0854022 distal bile duct cancer by ajcc v7 stage NCIT:C134810 MONDO:equivalentTo Distal Bile Duct Cancer by AJCC v7 Stage MONDO:0003707 -MONDO:0854023 distal bile duct cancer by ajcc v8 stage NCIT:C134811 MONDO:equivalentTo Distal Bile Duct Cancer by AJCC v8 Stage MONDO:0003707 -MONDO:0854024 ampulla of vater cancer by ajcc v7 stage NCIT:C134863 MONDO:equivalentTo Ampulla of Vater Cancer by AJCC v7 Stage MONDO:0017590 -MONDO:0854025 ampulla of vater cancer by ajcc v8 stage NCIT:C134864 MONDO:equivalentTo Ampulla of Vater Cancer by AJCC v8 Stage MONDO:0017590 -MONDO:0854026 pancreatic cancer by ajcc v6 and v7 stage NCIT:C134902 MONDO:equivalentTo Pancreatic Cancer by AJCC v6 and v7 Stage MONDO:0005192 -MONDO:0854027 pancreatic cancer by ajcc v8 stage NCIT:C134909 MONDO:equivalentTo Pancreatic Cancer by AJCC v8 Stage MONDO:0005192 -MONDO:0854029 lung non-squamous non-small cell carcinoma NCIT:C135017 MONDO:equivalentTo Lung Non-Squamous Non-Small Cell Carcinoma MONDO:0005233 -MONDO:0854030 gastric neuroendocrine tumor by ajcc v8 stage NCIT:C135045 MONDO:equivalentTo Gastric Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015062 -MONDO:0854031 duodenal neuroendocrine tumor by ajcc v8 stage NCIT:C135075 MONDO:equivalentTo Duodenal Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015063 -MONDO:0854032 jejunal neuroendocrine tumor by ajcc v8 stage NCIT:C135119 MONDO:equivalentTo Jejunal Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015064 -MONDO:0854033 ileal neuroendocrine tumor by ajcc v8 stage NCIT:C135124 MONDO:equivalentTo Ileal Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015065 -MONDO:0854034 digestive system neuroendocrine tumor by ajcc v7 stage NCIT:C135129 MONDO:equivalentTo Digestive System Neuroendocrine Tumor by AJCC v7 Stage MONDO:0000386 -MONDO:0854036 appendix neuroendocrine tumor by ajcc v8 stage NCIT:C135156 MONDO:equivalentTo Appendix Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015066 -MONDO:0854042 pancreatic neuroendocrine tumor by ajcc v8 stage NCIT:C135560 MONDO:equivalentTo Pancreatic Neuroendocrine Tumor by AJCC v8 Stage MONDO:0019954 -MONDO:0854043 thymic epithelial neoplasm by ajcc v8 stage NCIT:C136320 MONDO:equivalentTo Thymic Epithelial Neoplasm by AJCC v8 Stage MONDO:0018079 -MONDO:0854045 pleural malignant mesothelioma by ajcc v7 stage NCIT:C136374 MONDO:equivalentTo Pleural Malignant Mesothelioma by AJCC v7 Stage MONDO:0005112 -MONDO:0854046 pleural malignant mesothelioma by ajcc v8 stage NCIT:C136399 MONDO:equivalentTo Pleural Malignant Mesothelioma by AJCC v8 Stage MONDO:0005112 -MONDO:0854048 lung cancer by ajcc v8 stage NCIT:C136467 MONDO:equivalentTo Lung Cancer by AJCC v8 Stage MONDO:0005138 -MONDO:0854057 bone cancer by ajcc v7 stage NCIT:C136610 MONDO:equivalentTo Bone Cancer by AJCC v7 Stage MONDO:0002129 -MONDO:0854058 bone cancer by ajcc v8 stage NCIT:C136612 MONDO:equivalentTo Bone Cancer by AJCC v8 Stage MONDO:0002129 -MONDO:0854060 soft tissue sarcoma by ajcc v8 stage NCIT:C136693 MONDO:equivalentTo Soft Tissue Sarcoma by AJCC v8 Stage MONDO:0018078 -MONDO:0854061 soft tissue sarcoma by ajcc v7 stage NCIT:C136707 MONDO:equivalentTo Soft Tissue Sarcoma by AJCC v7 Stage MONDO:0018078 -MONDO:0854062 uterine corpus sarcoma by ajcc v7 stage NCIT:C136708 MONDO:equivalentTo Uterine Corpus Sarcoma by AJCC v7 Stage MONDO:0005210 -MONDO:0854063 invasive lung mucinous adenocarcinoma NCIT:C136709 MONDO:equivalentTo Invasive Lung Mucinous Adenocarcinoma MONDO:0040677|MONDO:0005061|MONDO:0004957 -MONDO:0854064 lung enteric adenocarcinoma NCIT:C136710 MONDO:equivalentTo Lung Enteric Adenocarcinoma MONDO:0006254|MONDO:0005061 -MONDO:0854065 lung keratinizing squamous cell carcinoma NCIT:C136713 MONDO:equivalentTo Lung Keratinizing Squamous Cell Carcinoma MONDO:0005097 -MONDO:0854066 lung non-keratinizing squamous cell carcinoma NCIT:C136714 MONDO:equivalentTo Lung Non-Keratinizing Squamous Cell Carcinoma MONDO:0005097 -MONDO:0854067 lung non-mucinous adenocarcinoma in situ NCIT:C136716 MONDO:equivalentTo Lung Non-Mucinous Adenocarcinoma In Situ MONDO:0000503 -MONDO:0854068 lung mucinous adenocarcinoma in situ NCIT:C136717 MONDO:equivalentTo Lung Mucinous Adenocarcinoma In Situ MONDO:0000503 -MONDO:0854069 lung squamous cell carcinoma in situ NCIT:C136719 MONDO:equivalentTo Lung Squamous Cell Carcinoma In Situ MONDO:0005097|MONDO:0004693 -MONDO:0854075 cutaneous melanoma by ajcc v8 stage NCIT:C137645 MONDO:equivalentTo Cutaneous Melanoma by AJCC v8 Stage MONDO:0005012 -MONDO:0854076 occult breast carcinoma NCIT:C137674 MONDO:equivalentTo Occult Breast Carcinoma MONDO:0004989 -MONDO:0854077 breast pleomorphic lobular carcinoma in situ NCIT:C137839 MONDO:equivalentTo Breast Pleomorphic Lobular Carcinoma In Situ MONDO:0006270 -MONDO:0854089 prostate carcinoma by gene expression profile NCIT:C138167 MONDO:equivalentTo Prostate Carcinoma by Gene Expression Profile MONDO:0005159 -MONDO:0854090 duodenal-type follicular lymphoma NCIT:C138185 MONDO:equivalentTo Duodenal-Type Follicular Lymphoma MONDO:0018906 -MONDO:0854092 high grade b-cell lymphoma with myc and bcl2 and/or bcl6 rearrangements NCIT:C138195 MONDO:equivalentTo High Grade B-Cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements MONDO:0044889 -MONDO:0854094 double-expressor lymphoma NCIT:C138899 MONDO:equivalentTo Double-Expressor Lymphoma MONDO:0018905 -MONDO:0854097 follicular helper t-cell lymphoma NCIT:C139005 MONDO:equivalentTo Follicular Helper T-Cell Lymphoma MONDO:0000430 -MONDO:0854098 multiple myeloma myeloma by ds stage NCIT:C139008 MONDO:equivalentTo Multiple Myeloma Myeloma by DS Stage MONDO:0009693 -MONDO:0854099 multiple myeloma by iss stage NCIT:C139009 MONDO:equivalentTo Multiple Myeloma by ISS Stage MONDO:0009693 -MONDO:0854100 type d lymphomatoid papulosis NCIT:C139014 MONDO:equivalentTo Type D Lymphomatoid Papulosis MONDO:0020326 -MONDO:0854101 type e lymphomatoid papulosis NCIT:C139015 MONDO:equivalentTo Type E Lymphomatoid Papulosis MONDO:0020326 -MONDO:0854102 lymphomatoid papulosis with dusp22-irf4 gene rearrangement NCIT:C139017 MONDO:equivalentTo Lymphomatoid Papulosis with DUSP22-IRF4 Gene Rearrangement MONDO:0020326 -MONDO:0854105 breast cancer by ajcc v8 stage NCIT:C139532 MONDO:equivalentTo Breast Cancer by AJCC v8 Stage MONDO:0004989 -MONDO:0854108 fibroadenoma of anogenital mammary-type glands NCIT:C139547 MONDO:equivalentTo Fibroadenoma of Anogenital Mammary-Type Glands MONDO:0000383|MONDO:0021045 -MONDO:0854109 vulvar composite hidradenoma papilliferum and fibroadenoma NCIT:C139548 MONDO:equivalentTo Vulvar Composite Hidradenoma Papilliferum and Fibroadenoma MONDO:0021043|MONDO:0000643 -MONDO:0854111 vulvar cancer by ajcc v8 stage NCIT:C139618 MONDO:equivalentTo Vulvar Cancer by AJCC v8 Stage MONDO:0005215 -MONDO:0854112 vaginal cancer by ajcc v8 stage NCIT:C139657 MONDO:equivalentTo Vaginal Cancer by AJCC v8 Stage MONDO:0015867 -MONDO:0854113 cervical cancer by ajcc v8 stage NCIT:C139733 MONDO:equivalentTo Cervical Cancer by AJCC v8 Stage MONDO:0005131 -MONDO:0854114 uterine corpus cancer by ajcc v8 stage NCIT:C139801 MONDO:equivalentTo Uterine Corpus Cancer by AJCC v8 Stage MONDO:0006003 -MONDO:0854115 uterine corpus sarcoma by ajcc v8 stage NCIT:C139869 MONDO:equivalentTo Uterine Corpus Sarcoma by AJCC v8 Stage MONDO:0005210 -MONDO:0854119 ovarian cancer by ajcc v8 stage NCIT:C139963 MONDO:equivalentTo Ovarian Cancer by AJCC v8 Stage MONDO:0005140 -MONDO:0854120 fallopian tube cancer by ajcc v8 stage NCIT:C139983 MONDO:equivalentTo Fallopian Tube Cancer by AJCC v8 Stage MONDO:0006206 -MONDO:0854121 primary peritoneal cancer by ajcc v7 stage NCIT:C140003 MONDO:equivalentTo Primary Peritoneal Cancer by AJCC v7 Stage MONDO:0015686 -MONDO:0854122 primary peritoneal cancer by ajcc v8 stage NCIT:C140004 MONDO:equivalentTo Primary Peritoneal Cancer by AJCC v8 Stage MONDO:0015686 -MONDO:0854123 gestational trophoblastic tumor by ajcc v7 stage NCIT:C140032 MONDO:equivalentTo Gestational Trophoblastic Tumor by AJCC v7 Stage MONDO:0018944 -MONDO:0854124 penile cancer by ajcc v8 stage NCIT:C140075 MONDO:equivalentTo Penile Cancer by AJCC v8 Stage MONDO:0006360 -MONDO:0854125 prostate cancer by ajcc v8 stage NCIT:C140163 MONDO:equivalentTo Prostate Cancer by AJCC v8 Stage MONDO:0005159 -MONDO:0854126 testicular cancer by ajcc v8 stage NCIT:C140225 MONDO:equivalentTo Testicular Cancer by AJCC v8 Stage MONDO:0005447 -MONDO:0854127 testicular cancer by ajcc v6 and v7 stage NCIT:C140241 MONDO:equivalentTo Testicular Cancer by AJCC v6 and v7 Stage MONDO:0005447 -MONDO:0854128 renal cell cancer by ajcc v8 stage NCIT:C140322 MONDO:equivalentTo Renal Cell Cancer by AJCC v8 Stage MONDO:0005549 -MONDO:0854130 renal pelvis and ureter cancer by ajcc v8 stage NCIT:C140355 MONDO:equivalentTo Renal Pelvis and Ureter Cancer by AJCC v8 Stage MONDO:0020654 -MONDO:0854134 renal pelvis and ureter cancer by ajcc v7 stage NCIT:C140376 MONDO:equivalentTo Renal Pelvis and Ureter Cancer by AJCC v7 Stage MONDO:0020654 -MONDO:0854137 bladder cancer by ajcc v8 stage NCIT:C140416 MONDO:equivalentTo Bladder Cancer by AJCC v8 Stage MONDO:0004986 -MONDO:0854139 urethral cancer by ajcc v8 stage NCIT:C140457 MONDO:equivalentTo Urethral Cancer by AJCC v8 Stage MONDO:0021327 -MONDO:0854141 urethral cancer by ajcc v7 stage NCIT:C140464 MONDO:equivalentTo Urethral Cancer by AJCC v7 Stage MONDO:0021327 -MONDO:0854142 eyelid carcinoma by ajcc v7 stage NCIT:C140511 MONDO:equivalentTo Eyelid Carcinoma by AJCC v7 Stage MONDO:0003876 -MONDO:0854143 eyelid carcinoma by ajcc v8 stage NCIT:C140513 MONDO:equivalentTo Eyelid Carcinoma by AJCC v8 Stage MONDO:0003876 -MONDO:0854144 choroidal and ciliary body melanoma by ajcc v8 stage NCIT:C140659 MONDO:equivalentTo Choroidal and Ciliary Body Melanoma by AJCC v8 Stage MONDO:0006486 -MONDO:0854145 uveal melanoma by ajcc v7 stage NCIT:C140672 MONDO:equivalentTo Uveal Melanoma by AJCC v7 Stage MONDO:0006486 -MONDO:0854146 retinoblastoma by ajcc v8 stage NCIT:C140750 MONDO:equivalentTo Retinoblastoma by AJCC v8 Stage MONDO:0008380 -MONDO:0854148 differentiated thyroid gland carcinoma by ajcc v7 stage NCIT:C140959 MONDO:equivalentTo Differentiated Thyroid Gland Carcinoma by AJCC v7 Stage MONDO:0015447 -MONDO:0854150 differentiated thyroid gland carcinoma by ajcc v8 stage NCIT:C140965 MONDO:equivalentTo Differentiated Thyroid Gland Carcinoma by AJCC v8 Stage MONDO:0015447 -MONDO:0854153 thyroid gland anaplastic carcinoma by ajcc v7 stage NCIT:C140999 MONDO:equivalentTo Thyroid Gland Anaplastic Carcinoma by AJCC v7 Stage MONDO:0006468 -MONDO:0854154 thyroid gland anaplastic carcinoma by ajcc v8 stage NCIT:C141000 MONDO:equivalentTo Thyroid Gland Anaplastic Carcinoma by AJCC v8 Stage MONDO:0006468 -MONDO:0854155 thyroid gland medullary carcinoma by ajcc v7 stage NCIT:C141041 MONDO:equivalentTo Thyroid Gland Medullary Carcinoma by AJCC v7 Stage MONDO:0015277 -MONDO:0854156 thyroid gland medullary carcinoma by ajcc v8 stage NCIT:C141042 MONDO:equivalentTo Thyroid Gland Medullary Carcinoma by AJCC v8 Stage MONDO:0015277 -MONDO:0854157 adrenal cortical carcinoma by ajcc v7 stage NCIT:C141098 MONDO:equivalentTo Adrenal Cortical Carcinoma by AJCC v7 Stage MONDO:0006639 -MONDO:0854158 adrenal cortical carcinoma by ajcc v8 stage NCIT:C141100 MONDO:equivalentTo Adrenal Cortical Carcinoma by AJCC v8 Stage MONDO:0006639 -MONDO:0854159 adrenal gland pheochromocytoma and sympathetic paraganglioma by ajcc v8 stage NCIT:C141128 MONDO:equivalentTo Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma by AJCC v8 Stage MONDO:0021072 -MONDO:0854166 chronic lymphocytic leukemia- modified rai staging system NCIT:C141206 MONDO:equivalentTo Chronic Lymphocytic Leukemia- Modified Rai Staging System MONDO:0004948 -MONDO:0854167 chronic lymphocytic leukemia- binet staging system NCIT:C141208 MONDO:equivalentTo Chronic Lymphocytic Leukemia- Binet Staging System MONDO:0004948 -MONDO:0854189 multiple myeloma by riss stage NCIT:C141393 MONDO:equivalentTo Multiple Myeloma by RISS Stage MONDO:0009693 -MONDO:0854192 thoracic nut carcinoma NCIT:C142781 MONDO:equivalentTo Thoracic NUT Carcinoma MONDO:0005563|MONDO:0003274 -MONDO:0854193 benign lung pecoma NCIT:C142784 MONDO:equivalentTo Benign Lung PEComa MONDO:0002732|MONDO:0020588|MONDO:0020581 -MONDO:0854200 pulmonary artery intimal sarcoma NCIT:C142825 MONDO:equivalentTo Pulmonary Artery Intimal Sarcoma MONDO:0006255|MONDO:0002426 -MONDO:0854201 primary pulmonary myxoid sarcoma with ewsr1-creb1 fusion NCIT:C142827 MONDO:equivalentTo Primary Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Fusion MONDO:0002426 -MONDO:0854212 refractory rhabdoid tumor NCIT:C142858 MONDO:equivalentTo Refractory Rhabdoid Tumor MONDO:0002728|MONDO:0036501 -MONDO:0854225 atypical type a thymoma NCIT:C146640 MONDO:equivalentTo Atypical Type A Thymoma MONDO:0002588 -MONDO:0854227 thymic hepatoid adenocarcinoma NCIT:C146717 MONDO:equivalentTo Thymic Hepatoid Adenocarcinoma MONDO:0006243|MONDO:0003209 -MONDO:0854229 malignant mediastinal germ cell tumor stage grouping of the pediatric study group NCIT:C146848 MONDO:equivalentTo Malignant Mediastinal Germ Cell Tumor Stage Grouping of the Pediatric Study Group MONDO:0006298 -MONDO:0854230 metastatic epithelioid hemangioendothelioma NCIT:C146858 MONDO:equivalentTo Metastatic Epithelioid Hemangioendothelioma MONDO:0015523|MONDO:0024880 -MONDO:0854231 mediastinal mixed germ cell tumor NCIT:C146861 MONDO:equivalentTo Mediastinal Mixed Germ Cell Tumor MONDO:0006298|MONDO:0015864|MONDO:0005853 -MONDO:0854234 mediastinal epithelioid hemangioendothelioma NCIT:C146988 MONDO:equivalentTo Mediastinal Epithelioid Hemangioendothelioma MONDO:0037743|MONDO:0015523 -MONDO:0854235 cardiac extraskeletal osteosarcoma NCIT:C147003 MONDO:equivalentTo Cardiac Extraskeletal Osteosarcoma MONDO:0002621|MONDO:0003354 -MONDO:0854236 cardiac myxofibrosarcoma NCIT:C147004 MONDO:equivalentTo Cardiac Myxofibrosarcoma MONDO:0019202|MONDO:0003742 -MONDO:0854237 cardiac yolk sac tumor NCIT:C147006 MONDO:equivalentTo Cardiac Yolk Sac Tumor MONDO:0001991|MONDO:0005744 -MONDO:0854242 pericardial sarcoma NCIT:C147098 MONDO:equivalentTo Pericardial Sarcoma MONDO:0018078|MONDO:0001322 -MONDO:0854249 recurrent lymphoproliferative disorder NCIT:C147861 MONDO:equivalentTo Recurrent Lymphoproliferative Disorder -MONDO:0854250 oropharyngeal p16ink4a-negative squamous cell carcinoma NCIT:C147906 MONDO:equivalentTo Oropharyngeal p16INK4a-Negative Squamous Cell Carcinoma MONDO:0044704 -MONDO:0854251 central nervous system b-cell non-hodgkin lymphoma NCIT:C147948 MONDO:equivalentTo Central Nervous System B-Cell Non-Hodgkin Lymphoma MONDO:0015759|MONDO:0044887 -MONDO:0854253 refractory melanoma NCIT:C147983 MONDO:equivalentTo Refractory Melanoma MONDO:0036501|MONDO:0005105 -MONDO:0854268 refractory round cell liposarcoma NCIT:C148299 MONDO:equivalentTo Refractory Round Cell Liposarcoma MONDO:0005238 -MONDO:0854269 metastatic round cell liposarcoma NCIT:C148300 MONDO:equivalentTo Metastatic Round Cell Liposarcoma MONDO:0005238 -MONDO:0854270 refractory sarcoma NCIT:C148301 MONDO:equivalentTo Refractory Sarcoma MONDO:0005089|MONDO:0036501 -MONDO:0854284 refractory leukemia NCIT:C148426 MONDO:equivalentTo Refractory Leukemia MONDO:0005059|MONDO:0004111 -MONDO:0854293 castration-naive prostate carcinoma NCIT:C148536 MONDO:equivalentTo Castration-Naive Prostate Carcinoma MONDO:0004956 -MONDO:0854294 thoracic esophagus adenocarcinoma NCIT:C150027 MONDO:equivalentTo Thoracic Esophagus Adenocarcinoma MONDO:0005028|MONDO:0021325 -MONDO:0854295 thoracic esophagus squamous cell carcinoma NCIT:C150029 MONDO:equivalentTo Thoracic Esophagus Squamous Cell Carcinoma MONDO:0005580|MONDO:0021325 -MONDO:0854296 cervical esophagus adenocarcinoma NCIT:C150031 MONDO:equivalentTo Cervical Esophagus Adenocarcinoma MONDO:0021326|MONDO:0005028 -MONDO:0854297 cervical esophagus squamous cell carcinoma NCIT:C150032 MONDO:equivalentTo Cervical Esophagus Squamous Cell Carcinoma MONDO:0021326|MONDO:0005580 -MONDO:0854298 gastric cardia squamous cell carcinoma NCIT:C150034 MONDO:equivalentTo Gastric Cardia Squamous Cell Carcinoma MONDO:0003834|MONDO:0006230 -MONDO:0854317 high risk neuroblastoma NCIT:C150281 MONDO:equivalentTo High Risk Neuroblastoma MONDO:0005072 -MONDO:0854322 hhv8-related lymphoproliferative disorder NCIT:C150399 MONDO:equivalentTo HHV8-Related Lymphoproliferative Disorder -MONDO:0854323 hhv8-positive multicentric castleman disease NCIT:C150404 MONDO:equivalentTo HHV8-Positive Multicentric Castleman Disease -MONDO:0854324 extracavitary primary effusion lymphoma NCIT:C150406 MONDO:equivalentTo Extracavitary Primary Effusion Lymphoma MONDO:0018842 -MONDO:0854325 body cavity primary effusion lymphoma NCIT:C150407 MONDO:equivalentTo Body Cavity Primary Effusion Lymphoma MONDO:0018842 -MONDO:0854332 refractory malignant bone neoplasm NCIT:C150525 MONDO:equivalentTo Refractory Malignant Bone Neoplasm MONDO:0002129|MONDO:0036501 -MONDO:0854334 refractory malignant female reproductive system neoplasm NCIT:C150527 MONDO:equivalentTo Refractory Malignant Female Reproductive System Neoplasm MONDO:0001416|MONDO:0036501 -MONDO:0854335 refractory malignant neoplasm of multiple primary sites NCIT:C150529 MONDO:equivalentTo Refractory Malignant Neoplasm of Multiple Primary Sites MONDO:0036501 -MONDO:0854339 refractory malignant male reproductive system neoplasm NCIT:C150534 MONDO:equivalentTo Refractory Malignant Male Reproductive System Neoplasm MONDO:0005836|MONDO:0036501 -MONDO:0854340 refractory malignant mesothelioma NCIT:C150535 MONDO:equivalentTo Refractory Malignant Mesothelioma MONDO:0006292|MONDO:0036501 -MONDO:0854342 refractory malignant soft tissue neoplasm NCIT:C150537 MONDO:equivalentTo Refractory Malignant Soft Tissue Neoplasm MONDO:0024637|MONDO:0036501 -MONDO:0854345 refractory malignant endocrine neoplasm NCIT:C150541 MONDO:equivalentTo Refractory Malignant Endocrine Neoplasm MONDO:0021069|MONDO:0036501 -MONDO:0854347 refractory malignant urinary system neoplasm NCIT:C150543 MONDO:equivalentTo Refractory Malignant Urinary System Neoplasm MONDO:0006295|MONDO:0036501 -MONDO:0854349 refractory malignant skin neoplasm NCIT:C150546 MONDO:equivalentTo Refractory Malignant Skin Neoplasm MONDO:0002898|MONDO:0036501 -MONDO:0854350 prostate adenocarcinoma without neuroendocrine differentiation NCIT:C150557 MONDO:equivalentTo Prostate Adenocarcinoma without Neuroendocrine Differentiation MONDO:0005082 -MONDO:0854351 igm monoclonal gammopathy of undetermined significance NCIT:C150566 MONDO:equivalentTo IgM Monoclonal Gammopathy of Undetermined Significance MONDO:0004225 -MONDO:0854352 invasive bladder carcinoma NCIT:C150570 MONDO:equivalentTo Invasive Bladder Carcinoma MONDO:0040677|MONDO:0004986 -MONDO:0854353 localized cerebral neoplasm NCIT:C150573 MONDO:equivalentTo Localized Cerebral Neoplasm MONDO:0021632|MONDO:0021374 -MONDO:0854358 non-igm monoclonal gammopathy of undetermined significance NCIT:C150588 MONDO:equivalentTo Non-IgM Monoclonal Gammopathy of Undetermined Significance MONDO:0004225 -MONDO:0854359 testicular follicular lymphoma NCIT:C150589 MONDO:equivalentTo Testicular Follicular Lymphoma MONDO:0001472|MONDO:0018906 -MONDO:0854363 metastatic malignant neoplasm in the viscera NCIT:C150597 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Viscera MONDO:0024880 -MONDO:0854365 resectable malignant neoplasm NCIT:C150602 MONDO:equivalentTo Resectable Malignant Neoplasm MONDO:0004992 -MONDO:0854374 immunodeficiency-related lymphoproliferative disorder NCIT:C150672 MONDO:equivalentTo Immunodeficiency-Related Lymphoproliferative Disorder -MONDO:0854376 tumors derived from langerhans cells NCIT:C150692 MONDO:equivalentTo Tumors Derived from Langerhans Cells MONDO:0006247 -MONDO:0854377 langerhans cell histiocytosis, monostotic NCIT:C150701 MONDO:equivalentTo Langerhans Cell Histiocytosis, Monostotic MONDO:0018310 -MONDO:0854378 langerhans cell histiocytosis, polyostotic NCIT:C150702 MONDO:equivalentTo Langerhans Cell Histiocytosis, Polyostotic MONDO:0018310 -MONDO:0854379 langerhans cell histiocytosis, disseminated NCIT:C150703 MONDO:equivalentTo Langerhans Cell Histiocytosis, Disseminated MONDO:0018310 -MONDO:0854381 transformed non-hodgkin lymphoma NCIT:C151957 MONDO:equivalentTo Transformed Non-Hodgkin Lymphoma MONDO:0018908 -MONDO:0854382 acute leukemia of ambiguous lineage, not otherwise specified NCIT:C151975 MONDO:equivalentTo Acute Leukemia of Ambiguous Lineage, Not Otherwise Specified MONDO:0019460 -MONDO:0854385 abdominal rhabdomyosarcoma NCIT:C151982 MONDO:equivalentTo Abdominal Rhabdomyosarcoma MONDO:0005212 -MONDO:0854388 abdominal undifferentiated pleomorphic sarcoma NCIT:C151985 MONDO:equivalentTo Abdominal Undifferentiated Pleomorphic Sarcoma MONDO:0002142 -MONDO:0854389 mixed phenotype acute leukemia, rare types NCIT:C151990 MONDO:equivalentTo Mixed Phenotype Acute Leukemia, Rare Types MONDO:0020743 -MONDO:0854394 metastatic sarcoma NCIT:C152076 MONDO:equivalentTo Metastatic Sarcoma MONDO:0005089|MONDO:0024880 -MONDO:0854395 refractory malignant head and neck neoplasm NCIT:C152078 MONDO:equivalentTo Refractory Malignant Head and Neck Neoplasm MONDO:0005627|MONDO:0036501 -MONDO:0854414 refractory ewing sarcoma/peripheral primitive neuroectodermal tumor NCIT:C153286 MONDO:equivalentTo Refractory Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor MONDO:0021038|MONDO:0036501 -MONDO:0854420 metastatic chordoma NCIT:C153323 MONDO:equivalentTo Metastatic Chordoma MONDO:0024880|MONDO:0008978 -MONDO:0854422 castration-sensitive prostate carcinoma NCIT:C153336 MONDO:equivalentTo Castration-Sensitive Prostate Carcinoma MONDO:0004956 -MONDO:0854468 sinonasal poorly differentiated carcinoma NCIT:C154324 MONDO:equivalentTo Sinonasal Poorly Differentiated Carcinoma MONDO:0056819 -MONDO:0854469 densely granulated corticotroph pituitary neuroendocrine tumor NCIT:C154339 MONDO:equivalentTo Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor MONDO:0006068 -MONDO:0854470 sparsely granulated corticotroph pituitary neuroendocrine tumor NCIT:C154340 MONDO:equivalentTo Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor MONDO:0006068 -MONDO:0854471 crooke cell tumor NCIT:C154342 MONDO:equivalentTo Crooke Cell Tumor MONDO:0006068 -MONDO:0854472 non-functioning corticotroph pituitary neuroendocrine tumor NCIT:C154429 MONDO:equivalentTo Non-Functioning Corticotroph Pituitary Neuroendocrine Tumor MONDO:0006068|MONDO:0019613 -MONDO:0854479 anaplastic sarcoma of the kidney NCIT:C154496 MONDO:equivalentTo Anaplastic Sarcoma of the Kidney MONDO:0002930|MONDO:0020633 -MONDO:0854480 multiple synchronous pituitary neuroendocrine tumors of distinct lineages NCIT:C154520 MONDO:equivalentTo Multiple Synchronous Pituitary Neuroendocrine Tumors of Distinct Lineages MONDO:0006373 -MONDO:0854485 cutaneous melanoma of the extremity NCIT:C155305 MONDO:equivalentTo Cutaneous Melanoma of the Extremity MONDO:0005012 -MONDO:0854489 sarcoma of the extremity NCIT:C155647 MONDO:equivalentTo Sarcoma of the Extremity MONDO:0005089 -MONDO:0854492 mixed gangliocytoma-pituitary neuroendocrine tumor NCIT:C155767 MONDO:equivalentTo Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor MONDO:0021043|MONDO:0006373 -MONDO:0854495 ependymal pituicytoma NCIT:C155774 MONDO:equivalentTo Ependymal Pituicytoma MONDO:0003257 -MONDO:0854496 sellar meningioma NCIT:C155776 MONDO:equivalentTo Sellar Meningioma MONDO:0002998|MONDO:0002720 -MONDO:0854500 sellar solitary fibrous tumor NCIT:C155784 MONDO:equivalentTo Sellar Solitary Fibrous Tumor MONDO:0002720|MONDO:0003223 -MONDO:0854518 metastatic malignant pancreatic neoplasm NCIT:C155852 MONDO:equivalentTo Metastatic Malignant Pancreatic Neoplasm MONDO:0009831|MONDO:0024880 -MONDO:0854521 chest wall sarcoma NCIT:C155873 MONDO:equivalentTo Chest Wall Sarcoma MONDO:0005089|MONDO:0021323 -MONDO:0854523 unresectable desmoid fibromatosis NCIT:C155877 MONDO:equivalentTo Unresectable Desmoid Fibromatosis MONDO:0007608 -MONDO:0854527 smoldering waldenstrom macroglobulinemia NCIT:C155910 MONDO:equivalentTo Smoldering Waldenstrom Macroglobulinemia MONDO:0100280 -MONDO:0854528 metastatic malignant neoplasm in the thoracic cavity NCIT:C155919 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Thoracic Cavity MONDO:0024880|MONDO:0003274 -MONDO:0854529 medullary hemangioblastoma NCIT:C155949 MONDO:equivalentTo Medullary Hemangioblastoma MONDO:0003902 -MONDO:0854530 chromophobe renal cell carcinoma associated with birt-hogg-dube syndrome NCIT:C155951 MONDO:equivalentTo Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome MONDO:0017885 -MONDO:0854531 uterine ligament papillary cystadenoma NCIT:C155952 MONDO:equivalentTo Uterine Ligament Papillary Cystadenoma MONDO:0021091|MONDO:0020582 -MONDO:0854533 thyroid gland spindle cell follicular adenoma NCIT:C155957 MONDO:equivalentTo Thyroid Gland Spindle Cell Follicular Adenoma MONDO:0005032 -MONDO:0854534 thyroid gland black follicular adenoma NCIT:C155958 MONDO:equivalentTo Thyroid Gland Black Follicular Adenoma MONDO:0005032 -MONDO:0854545 hypothalamic-chiasmatic pilomyxoid astrocytoma NCIT:C156038 MONDO:equivalentTo Hypothalamic-Chiasmatic Pilomyxoid Astrocytoma MONDO:0016692 -MONDO:0854546 fourth ventricle medulloblastoma NCIT:C156039 MONDO:equivalentTo Fourth Ventricle Medulloblastoma MONDO:0007959 -MONDO:0854547 third ventricle germinoma NCIT:C156040 MONDO:equivalentTo Third Ventricle Germinoma MONDO:0002214 -MONDO:0854549 temporal lobe pleomorphic xanthoastrocytoma NCIT:C156042 MONDO:equivalentTo Temporal Lobe Pleomorphic Xanthoastrocytoma MONDO:0016690 -MONDO:0854550 spindle cell variant thyroid gland papillary carcinoma NCIT:C156045 MONDO:equivalentTo Spindle Cell Variant Thyroid Gland Papillary Carcinoma MONDO:0005075 -MONDO:0854551 hobnail variant thyroid gland papillary carcinoma NCIT:C156050 MONDO:equivalentTo Hobnail Variant Thyroid Gland Papillary Carcinoma MONDO:0005075 -MONDO:0854584 metastatic neuroblastoma NCIT:C156101 MONDO:equivalentTo Metastatic Neuroblastoma MONDO:0024880|MONDO:0005072 -MONDO:0854588 thyroid gland follicular carcinoma, encapsulated angioinvasive NCIT:C156122 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Encapsulated Angioinvasive MONDO:0005034 -MONDO:0854589 thyroid gland follicular carcinoma, widely invasive NCIT:C156123 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Widely Invasive MONDO:0040677|MONDO:0005034 -MONDO:0854594 thyroid gland mucinous carcinoma NCIT:C156267 MONDO:equivalentTo Thyroid Gland Mucinous Carcinoma MONDO:0015075 -MONDO:0854595 intrathyroidal thymoma NCIT:C156268 MONDO:equivalentTo Intrathyroidal Thymoma MONDO:0015074|MONDO:0006456 -MONDO:0854598 orbital alveolar soft part sarcoma NCIT:C156276 MONDO:equivalentTo Orbital Alveolar Soft Part Sarcoma MONDO:0004943|MONDO:0011655 -MONDO:0854599 bladder alveolar soft part sarcoma NCIT:C156277 MONDO:equivalentTo Bladder Alveolar Soft Part Sarcoma MONDO:0001374|MONDO:0011655 -MONDO:0854600 cellular nerve sheath myxoma NCIT:C156278 MONDO:equivalentTo Cellular Nerve Sheath Myxoma MONDO:0006317 -MONDO:0854601 colon liposarcoma NCIT:C156279 MONDO:equivalentTo Colon Liposarcoma MONDO:0003352|MONDO:0005060 -MONDO:0854608 thyroid gland schwannoma NCIT:C156340 MONDO:equivalentTo Thyroid Gland Schwannoma MONDO:0004820|MONDO:0006107 -MONDO:0854616 thyroid gland solitary fibrous tumor NCIT:C156349 MONDO:equivalentTo Thyroid Gland Solitary Fibrous Tumor MONDO:0016238|MONDO:0015074 -MONDO:0854631 metastatic neuroendocrine neoplasm NCIT:C156485 MONDO:equivalentTo Metastatic Neuroendocrine Neoplasm MONDO:0019496|MONDO:0024880 -MONDO:0854639 malignant abdominal neoplasm NCIT:C156714 MONDO:equivalentTo Malignant Abdominal Neoplasm MONDO:0004992 -MONDO:0854640 malignant pelvic neoplasm NCIT:C156715 MONDO:equivalentTo Malignant Pelvic Neoplasm MONDO:0004992 -MONDO:0854647 metastatic basal cell carcinoma NCIT:C156769 MONDO:equivalentTo Metastatic Basal Cell Carcinoma MONDO:0024879|MONDO:0020804 -MONDO:0854656 adrenal cortical sex cord-stromal tumor NCIT:C156943 MONDO:equivalentTo Adrenal Cortical Sex Cord-Stromal Tumor MONDO:0006055|MONDO:0036591 -MONDO:0854657 adrenal gland schwannoma NCIT:C156944 MONDO:equivalentTo Adrenal Gland Schwannoma MONDO:0021468|MONDO:0004820 -MONDO:0854658 adrenal gland lymphoma NCIT:C156945 MONDO:equivalentTo Adrenal Gland Lymphoma MONDO:0002817|MONDO:0001499 -MONDO:0854659 adrenal gland sarcoma NCIT:C156956 MONDO:equivalentTo Adrenal Gland Sarcoma MONDO:0002817|MONDO:0001501 -MONDO:0854660 primary vitreoretinal non-hodgkin lymphoma NCIT:C157065 MONDO:equivalentTo Primary Vitreoretinal Non-Hodgkin Lymphoma MONDO:0004351|MONDO:0044887 -MONDO:0854663 unresectable paraganglioma NCIT:C157126 MONDO:equivalentTo Unresectable Paraganglioma MONDO:0000448 -MONDO:0854669 breast histiocytoid carcinoma NCIT:C157235 MONDO:equivalentTo Breast Histiocytoid Carcinoma MONDO:0005051 -MONDO:0854670 adrenal gland ganglioneuroblastoma, intermixed NCIT:C157243 MONDO:equivalentTo Adrenal Gland Ganglioneuroblastoma, Intermixed MONDO:0004477|MONDO:0003326 -MONDO:0854671 adrenal gland ganglioneuroblastoma, nodular NCIT:C157244 MONDO:equivalentTo Adrenal Gland Ganglioneuroblastoma, Nodular MONDO:0004477|MONDO:0003325 -MONDO:0854672 composite paraganglioma NCIT:C157246 MONDO:equivalentTo Composite Paraganglioma MONDO:0000448 -MONDO:0854679 peripheral hemangioblastoma NCIT:C157450 MONDO:equivalentTo Peripheral Hemangioblastoma MONDO:0016748 -MONDO:0854680 metastatic squamous cell carcinoma in the cervical lymph nodes NCIT:C157452 MONDO:equivalentTo Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes MONDO:0005438|MONDO:0044907 -MONDO:0854688 bap1-mutant clear cell renal cell carcinoma NCIT:C157614 MONDO:equivalentTo BAP1-Mutant Clear Cell Renal Cell Carcinoma MONDO:0005005 -MONDO:0854691 transformed chronic lymphocytic leukemia to diffuse large b-cell lymphoma NCIT:C157624 MONDO:equivalentTo Transformed Chronic Lymphocytic Leukemia to Diffuse Large B-Cell Lymphoma MONDO:0004948 -MONDO:0854692 metastatic adenoid cystic carcinoma NCIT:C157638 MONDO:equivalentTo Metastatic Adenoid Cystic Carcinoma MONDO:0024879|MONDO:0004971 -MONDO:0854698 refractory lymphoproliferative disorder NCIT:C157686 MONDO:equivalentTo Refractory Lymphoproliferative Disorder -MONDO:0854705 kidney synovial sarcoma NCIT:C157737 MONDO:equivalentTo Kidney Synovial Sarcoma MONDO:0002930|MONDO:0010434 -MONDO:0854706 kidney neuroendocrine neoplasm NCIT:C157743 MONDO:equivalentTo Kidney Neuroendocrine Neoplasm MONDO:0019496|MONDO:0021163 -MONDO:0854708 metanephric tumor NCIT:C157748 MONDO:equivalentTo Metanephric Tumor MONDO:0002513|MONDO:0036976 -MONDO:0854714 bladder neuroendocrine neoplasm NCIT:C157758 MONDO:equivalentTo Bladder Neuroendocrine Neoplasm MONDO:0019496|MONDO:0004987 -MONDO:0854748 subcutaneous disorder NCIT:C157995 MONDO:equivalentTo Subcutaneous Disorder -MONDO:0854749 kidney epithelioid angiomyolipoma NCIT:C158032 MONDO:equivalentTo Kidney Epithelioid Angiomyolipoma MONDO:0004555|MONDO:0002606 -MONDO:0854750 kidney mixed epithelial and stromal tumor family NCIT:C158046 MONDO:equivalentTo Kidney Mixed Epithelial and Stromal Tumor Family MONDO:0021163 -MONDO:0854756 bladder non-invasive urothelial neoplasm NCIT:C158374 MONDO:equivalentTo Bladder Non-Invasive Urothelial Neoplasm MONDO:0003755|MONDO:0004987 -MONDO:0854773 platinum-sensitive lung small cell carcinoma NCIT:C158495 MONDO:equivalentTo Platinum-Sensitive Lung Small Cell Carcinoma MONDO:0008433 -MONDO:0854780 borderline ovarian mixed epithelial tumor/atypical proliferative ovarian mixed epithelial tumor NCIT:C158616 MONDO:equivalentTo Borderline Ovarian Mixed Epithelial Tumor/Atypical Proliferative Ovarian Mixed Epithelial Tumor MONDO:0021043|MONDO:0016093 -MONDO:0854781 endometrioid tumor, variant with squamous differentiation NCIT:C158620 MONDO:equivalentTo Endometrioid Tumor, Variant with Squamous Differentiation MONDO:0002480 -MONDO:0854783 bladder soft tissue neoplasm NCIT:C158636 MONDO:equivalentTo Bladder Soft Tissue Neoplasm MONDO:0006424|MONDO:0004987 -MONDO:0854795 early stage pancreatic ductal adenocarcinoma NCIT:C158961 MONDO:equivalentTo Early Stage Pancreatic Ductal Adenocarcinoma MONDO:0005184 -MONDO:0854803 kidney rhabdomyosarcoma NCIT:C159206 MONDO:equivalentTo Kidney Rhabdomyosarcoma MONDO:0002930|MONDO:0005212 -MONDO:0854804 kidney ewing sarcoma NCIT:C159208 MONDO:equivalentTo Kidney Ewing Sarcoma MONDO:0018270|MONDO:0002930 -MONDO:0854806 kidney hemangioma NCIT:C159211 MONDO:equivalentTo Kidney Hemangioma MONDO:0002513|MONDO:0006500 -MONDO:0854807 kidney lymphangioma NCIT:C159214 MONDO:equivalentTo Kidney Lymphangioma MONDO:0002013|MONDO:0002513 -MONDO:0854808 kidney schwannoma NCIT:C159221 MONDO:equivalentTo Kidney Schwannoma MONDO:0002513|MONDO:0004820 -MONDO:0854809 kidney solitary fibrous tumor NCIT:C159222 MONDO:equivalentTo Kidney Solitary Fibrous Tumor MONDO:0016238|MONDO:0021163 -MONDO:0854812 kidney germ cell tumor NCIT:C159227 MONDO:equivalentTo Kidney Germ Cell Tumor MONDO:0018201|MONDO:0021163 -MONDO:0854813 penile human papillomavirus-independent squamous cell carcinoma NCIT:C159244 MONDO:equivalentTo Penile Human Papillomavirus-Independent Squamous Cell Carcinoma MONDO:0018352 -MONDO:0854815 penile carcinoma cuniculatum NCIT:C159247 MONDO:equivalentTo Penile Carcinoma Cuniculatum MONDO:0003698 -MONDO:0854817 penile papillary-basaloid carcinoma NCIT:C159249 MONDO:equivalentTo Penile Papillary-Basaloid Carcinoma MONDO:0004089 -MONDO:0854818 penile warty-basaloid carcinoma NCIT:C159250 MONDO:equivalentTo Penile Warty-Basaloid Carcinoma MONDO:0004430|MONDO:0020656 -MONDO:0854819 penile lymphoepithelioma-like carcinoma NCIT:C159252 MONDO:equivalentTo Penile Lymphoepithelioma-Like Carcinoma MONDO:0003572|MONDO:0020656 -MONDO:0854820 borderline ovarian mucinous tumor/atypical proliferative ovarian mucinous tumor with microinvasion NCIT:C159311 MONDO:equivalentTo Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Microinvasion MONDO:0003756 -MONDO:0854828 bladder rhabdomyosarcoma NCIT:C159667 MONDO:equivalentTo Bladder Rhabdomyosarcoma MONDO:0001374|MONDO:0005212 -MONDO:0854831 bladder leiomyosarcoma NCIT:C159670 MONDO:equivalentTo Bladder Leiomyosarcoma MONDO:0001374|MONDO:0005058 -MONDO:0854838 bladder hemangioma NCIT:C159680 MONDO:equivalentTo Bladder Hemangioma MONDO:0000384|MONDO:0006500 -MONDO:0854839 bladder granular cell tumor NCIT:C159681 MONDO:equivalentTo Bladder Granular Cell Tumor MONDO:0006235|MONDO:0004987 -MONDO:0854840 bladder neurofibroma NCIT:C159682 MONDO:equivalentTo Bladder Neurofibroma MONDO:0000384|MONDO:0016755 -MONDO:0854841 ebv-related lymphoproliferative disorder NCIT:C159717 MONDO:equivalentTo EBV-Related Lymphoproliferative Disorder -MONDO:0854843 platinum-sensitive ovarian carcinoma NCIT:C159902 MONDO:equivalentTo Platinum-Sensitive Ovarian Carcinoma MONDO:0005140 -MONDO:0854845 carcinoma arising in bladder diverticulum NCIT:C160158 MONDO:equivalentTo Carcinoma Arising in Bladder Diverticulum MONDO:0004986 -MONDO:0854847 metastatic nut carcinoma NCIT:C160297 MONDO:equivalentTo Metastatic NUT Carcinoma MONDO:0005563|MONDO:0024879 -MONDO:0854850 hematologic malignancy-associated skin squamous cell carcinoma NCIT:C160666 MONDO:equivalentTo Hematologic Malignancy-Associated Skin Squamous Cell Carcinoma MONDO:0002529 -MONDO:0854854 prostate acinar microcystic adenocarcinoma NCIT:C160817 MONDO:equivalentTo Prostate Acinar Microcystic Adenocarcinoma MONDO:0002493 -MONDO:0854855 prostate acinar pleomorphic giant cell adenocarcinoma NCIT:C160818 MONDO:equivalentTo Prostate Acinar Pleomorphic Giant Cell Adenocarcinoma MONDO:0002493 -MONDO:0854859 platinum-sensitive primary peritoneal carcinoma NCIT:C160872 MONDO:equivalentTo Platinum-Sensitive Primary Peritoneal Carcinoma MONDO:0015686 -MONDO:0854860 platinum-sensitive fallopian tube carcinoma NCIT:C160873 MONDO:equivalentTo Platinum-Sensitive Fallopian Tube Carcinoma MONDO:0006206 -MONDO:0854866 cribriform adenocarcinoma of minor salivary gland NCIT:C160974 MONDO:equivalentTo Cribriform Adenocarcinoma of Minor Salivary Gland MONDO:0006304|MONDO:0006176 -MONDO:0854867 sinonasal adenocarcinoma NCIT:C160976 MONDO:equivalentTo Sinonasal Adenocarcinoma MONDO:0056819|MONDO:0004970 -MONDO:0854868 head and neck sebaceous carcinoma NCIT:C160978 MONDO:equivalentTo Head and Neck Sebaceous Carcinoma MONDO:0006962|MONDO:0002038 -MONDO:0854872 prostate intraductal carcinoma NCIT:C161022 MONDO:equivalentTo Prostate Intraductal Carcinoma MONDO:0005159 -MONDO:0854873 prostate synovial sarcoma NCIT:C161034 MONDO:equivalentTo Prostate Synovial Sarcoma MONDO:0002854|MONDO:0010434 -MONDO:0854874 prostate osteosarcoma NCIT:C161035 MONDO:equivalentTo Prostate Osteosarcoma MONDO:0002621|MONDO:0002854 -MONDO:0854875 prostate undifferentiated pleomorphic sarcoma NCIT:C161038 MONDO:equivalentTo Prostate Undifferentiated Pleomorphic Sarcoma MONDO:0002854|MONDO:0002142 -MONDO:0854877 prostate soft tissue neoplasm NCIT:C161045 MONDO:equivalentTo Prostate Soft Tissue Neoplasm MONDO:0006424|MONDO:0021259 -MONDO:0854881 prostate hemangioma NCIT:C161581 MONDO:equivalentTo Prostate Hemangioma MONDO:0021510|MONDO:0006500 -MONDO:0854886 prostate carcinoma metastatic in the lymph nodes NCIT:C161587 MONDO:equivalentTo Prostate Carcinoma Metastatic in the Lymph Nodes MONDO:0004956|MONDO:0005438 -MONDO:0854888 prostate cystadenoma NCIT:C161606 MONDO:equivalentTo Prostate Cystadenoma MONDO:0021510|MONDO:0002369 -MONDO:0854889 prostate wilms tumor NCIT:C161607 MONDO:equivalentTo Prostate Wilms Tumor MONDO:0008315|MONDO:0006058 -MONDO:0854891 prostate melanoma NCIT:C161611 MONDO:equivalentTo Prostate Melanoma MONDO:0006320|MONDO:0008315 -MONDO:0854893 seminal vesicle mixed epithelial and stromal tumor NCIT:C161636 MONDO:equivalentTo Seminal Vesicle Mixed Epithelial and Stromal Tumor MONDO:0021043|MONDO:0002790 -MONDO:0854895 benign seminal vesicle neoplasm NCIT:C161643 MONDO:equivalentTo Benign Seminal Vesicle Neoplasm MONDO:0000625|MONDO:0002790 -MONDO:0854896 malignant seminal vesicle neoplasm NCIT:C161644 MONDO:equivalentTo Malignant Seminal Vesicle Neoplasm MONDO:0005836|MONDO:0002790 -MONDO:0854902 regressed testicular germ cell tumor NCIT:C162139 MONDO:equivalentTo Regressed Testicular Germ Cell Tumor MONDO:0010108 -MONDO:0854909 cervical cancer by figo stage 2018 NCIT:C162225 MONDO:equivalentTo Cervical Cancer by FIGO Stage 2018 MONDO:0005131 -MONDO:0854911 metastatic malignant digestive system neoplasm NCIT:C162255 MONDO:equivalentTo Metastatic Malignant Digestive System Neoplasm MONDO:0002516|MONDO:0024880 -MONDO:0854912 hypermutated colorectal carcinoma NCIT:C162256 MONDO:equivalentTo Hypermutated Colorectal Carcinoma MONDO:0024331 -MONDO:0854925 thymic neuroendocrine neoplasm NCIT:C162460 MONDO:equivalentTo Thymic Neuroendocrine Neoplasm MONDO:0018079|MONDO:0019496 -MONDO:0854927 intratubular large cell hyalinizing sertoli cell neoplasia NCIT:C162466 MONDO:equivalentTo Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia MONDO:0003125 -MONDO:0854928 testicular diffuse large b-cell lymphoma NCIT:C162467 MONDO:equivalentTo Testicular Diffuse Large B-Cell Lymphoma MONDO:0018905|MONDO:0001472 -MONDO:0854929 testicular nasal type extranodal nk/t-cell lymphoma NCIT:C162468 MONDO:equivalentTo Testicular Nasal Type Extranodal NK/T-Cell Lymphoma MONDO:0001472|MONDO:0019472 -MONDO:0854930 testicular myeloid sarcoma NCIT:C162469 MONDO:equivalentTo Testicular Myeloid Sarcoma MONDO:0005447|MONDO:0006861 -MONDO:0854931 testicular plasmacytoma NCIT:C162470 MONDO:equivalentTo Testicular Plasmacytoma MONDO:0005447|MONDO:0002754 -MONDO:0854936 paratesticular neoplasm NCIT:C162485 MONDO:equivalentTo Paratesticular Neoplasm MONDO:0024582 -MONDO:0854952 penile melanoma NCIT:C162547 MONDO:equivalentTo Penile Melanoma MONDO:0001325|MONDO:0005105 -MONDO:0854953 penile lymphoma NCIT:C162548 MONDO:equivalentTo Penile Lymphoma MONDO:0001325|MONDO:0017207 -MONDO:0854955 primary peritoneal undifferentiated carcinoma NCIT:C162562 MONDO:equivalentTo Primary Peritoneal Undifferentiated Carcinoma MONDO:0015686|MONDO:0005617 -MONDO:0854956 primary peritoneal transitional cell carcinoma NCIT:C162564 MONDO:equivalentTo Primary Peritoneal Transitional Cell Carcinoma MONDO:0015686|MONDO:0006474 -MONDO:0854959 penile soft tissue neoplasm NCIT:C162574 MONDO:equivalentTo Penile Soft Tissue Neoplasm MONDO:0006424|MONDO:0006895 -MONDO:0854966 penile malignant peripheral nerve sheath tumor NCIT:C162584 MONDO:equivalentTo Penile Malignant Peripheral Nerve Sheath Tumor MONDO:0001387|MONDO:0017827 -MONDO:0854967 penile leiomyosarcoma NCIT:C162585 MONDO:equivalentTo Penile Leiomyosarcoma MONDO:0001387|MONDO:0005058 -MONDO:0854968 penile schwannoma NCIT:C162586 MONDO:equivalentTo Penile Schwannoma MONDO:0004820|MONDO:0021458 -MONDO:0854969 penile neurofibroma NCIT:C162587 MONDO:equivalentTo Penile Neurofibroma MONDO:0021458|MONDO:0016755 -MONDO:0854970 penile rhabdomyosarcoma NCIT:C162588 MONDO:equivalentTo Penile Rhabdomyosarcoma MONDO:0001387|MONDO:0005212 -MONDO:0854971 penile undifferentiated pleomorphic sarcoma NCIT:C162589 MONDO:equivalentTo Penile Undifferentiated Pleomorphic Sarcoma MONDO:0001387|MONDO:0002142 -MONDO:0854974 metastatic malignant neoplasm in the head and neck NCIT:C162594 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Head and Neck MONDO:0005627|MONDO:0024880 -MONDO:0854984 refractory childhood malignant neoplasm NCIT:C162703 MONDO:equivalentTo Refractory Childhood Malignant Neoplasm MONDO:0006517|MONDO:0036501 -MONDO:0854998 asph-positive head and neck squamous cell carcinoma NCIT:C162770 MONDO:equivalentTo ASPH-Positive Head and Neck Squamous Cell Carcinoma MONDO:0010150 -MONDO:0855003 parapharyngeal neoplasm NCIT:C162820 MONDO:equivalentTo Parapharyngeal Neoplasm MONDO:0021351 -MONDO:0855006 retropharyngeal neoplasm NCIT:C162825 MONDO:equivalentTo Retropharyngeal Neoplasm MONDO:0021351 -MONDO:0855015 non-invasive cribriform carcinoma NCIT:C162973 MONDO:equivalentTo Non-Invasive Cribriform Carcinoma MONDO:0006176 -MONDO:0855016 malignant brain glioma NCIT:C162993 MONDO:equivalentTo Malignant Brain Glioma MONDO:0100342|MONDO:0001657|MONDO:0021632 -MONDO:0855028 micropapillary carcinoma NCIT:C164144 MONDO:equivalentTo Micropapillary Carcinoma MONDO:0006509 -MONDO:0855034 aggressive prostate adenocarcinoma NCIT:C164185 MONDO:equivalentTo Aggressive Prostate Adenocarcinoma MONDO:0005082 -MONDO:0855035 head and neck sarcoma NCIT:C164198 MONDO:equivalentTo Head and Neck Sarcoma MONDO:0005089|MONDO:0005627 -MONDO:0855040 warty carcinoma NCIT:C164248 MONDO:equivalentTo Warty Carcinoma MONDO:0002979 -MONDO:0855041 differentiated intraepithelial neoplasia NCIT:C164249 MONDO:equivalentTo Differentiated Intraepithelial Neoplasia MONDO:0024474 -MONDO:0855042 human papillomavirus-independent squamous cell carcinoma NCIT:C164250 MONDO:equivalentTo Human Papillomavirus-Independent Squamous Cell Carcinoma MONDO:0005096 -MONDO:0855043 invasive sarcomatoid urothelial carcinoma NCIT:C164252 MONDO:equivalentTo Invasive Sarcomatoid Urothelial Carcinoma MONDO:0002837|MONDO:0040678 -MONDO:0855044 mixed neuroendocrine non-neuroendocrine neoplasm NCIT:C164255 MONDO:equivalentTo Mixed Neuroendocrine Non-Neuroendocrine Neoplasm MONDO:0021043|MONDO:0005626 -MONDO:0855047 nf1-associated malignant peripheral nerve sheath tumor NCIT:C164313 MONDO:equivalentTo NF1-Associated Malignant Peripheral Nerve Sheath Tumor MONDO:0017827 -MONDO:0855048 sporadic malignant peripheral nerve sheath tumor NCIT:C164314 MONDO:equivalentTo Sporadic Malignant Peripheral Nerve Sheath Tumor MONDO:0017827 -MONDO:0855049 radiation-induced malignant peripheral nerve sheath tumor NCIT:C164316 MONDO:equivalentTo Radiation-Induced Malignant Peripheral Nerve Sheath Tumor MONDO:0017827 -MONDO:0855058 soft tissue sarcoma of the trunk and extremities NCIT:C165190 MONDO:equivalentTo Soft Tissue Sarcoma of the Trunk and Extremities MONDO:0018078 -MONDO:0855059 metastatic malignant mesothelioma NCIT:C165252 MONDO:equivalentTo Metastatic Malignant Mesothelioma MONDO:0006292|MONDO:0024880 -MONDO:0855079 skin verrucous carcinoma NCIT:C165465 MONDO:equivalentTo Skin Verrucous Carcinoma MONDO:0002529|MONDO:0006006 -MONDO:0855080 skin squamous cell carcinoma with osteoclast-like giant cells NCIT:C165466 MONDO:equivalentTo Skin Squamous Cell Carcinoma with Osteoclast-Like Giant Cells MONDO:0002529 -MONDO:0855081 skin lymphoepithelial carcinoma NCIT:C165467 MONDO:equivalentTo Skin Lymphoepithelial Carcinoma MONDO:0002529|MONDO:0003572 -MONDO:0855082 skin squamous cell carcinoma with sarcomatoid differentiation NCIT:C165468 MONDO:equivalentTo Skin Squamous Cell Carcinoma with Sarcomatoid Differentiation MONDO:0002529|MONDO:0002928 -MONDO:0855085 lichen planus-like keratosis NCIT:C165485 MONDO:equivalentTo Lichen Planus-Like Keratosis MONDO:0002093 -MONDO:0855094 combined nevus NCIT:C165529 MONDO:equivalentTo Combined Nevus MONDO:0044794 -MONDO:0855104 proximal gastric adenocarcinoma NCIT:C165628 MONDO:equivalentTo Proximal Gastric Adenocarcinoma MONDO:0005036 -MONDO:0855113 mixed carcinoma NCIT:C165723 MONDO:equivalentTo Mixed Carcinoma MONDO:0005853|MONDO:0004993 -MONDO:0855116 hormone receptor-negative breast carcinoma NCIT:C165743 MONDO:equivalentTo Hormone Receptor-Negative Breast Carcinoma MONDO:0004988 -MONDO:0855127 musculoskeletal neoplasm NCIT:C166354 MONDO:equivalentTo Musculoskeletal Neoplasm MONDO:0044334|MONDO:0002081 -MONDO:0855132 pancreatobiliary carcinoma NCIT:C166418 MONDO:equivalentTo Pancreatobiliary Carcinoma MONDO:0006181 -MONDO:0855139 acute myeloid leukemia with ram immunophenotype NCIT:C167089 MONDO:equivalentTo Acute Myeloid Leukemia with RAM Immunophenotype MONDO:0004996 -MONDO:0855140 obesity-related malignant neoplasm NCIT:C167168 MONDO:equivalentTo Obesity-Related Malignant Neoplasm MONDO:0004992 -MONDO:0855143 metastatic primary peritoneal carcinoma NCIT:C167203 MONDO:equivalentTo Metastatic Primary Peritoneal Carcinoma MONDO:0015686|MONDO:0024879 -MONDO:0855150 midgut neuroendocrine tumor NCIT:C167327 MONDO:equivalentTo Midgut Neuroendocrine Tumor MONDO:0000386 -MONDO:0855151 adnexal adenocarcinoma, not otherwise specified NCIT:C167341 MONDO:equivalentTo Adnexal Adenocarcinoma, Not Otherwise Specified MONDO:0006973|MONDO:0004970 -MONDO:0855152 spiradenocylindroma NCIT:C167342 MONDO:equivalentTo Spiradenocylindroma MONDO:0021489 -MONDO:0855153 spiradenocylindrocarcinoma NCIT:C167344 MONDO:equivalentTo Spiradenocylindrocarcinoma MONDO:0005524|MONDO:0024878 -MONDO:0855154 malignant mixed tumor of the skin NCIT:C167346 MONDO:equivalentTo Malignant Mixed Tumor of the Skin MONDO:0002206|MONDO:0005853 -MONDO:0855157 syringocystadenocarcinoma papilliferum NCIT:C167365 MONDO:equivalentTo Syringocystadenocarcinoma Papilliferum MONDO:0005524 -MONDO:0855158 adnexal cribriform carcinoma NCIT:C167366 MONDO:equivalentTo Adnexal Cribriform Carcinoma MONDO:0006973|MONDO:0006176 -MONDO:0855159 adnexal secretory carcinoma NCIT:C167368 MONDO:equivalentTo Adnexal Secretory Carcinoma MONDO:0006973|MONDO:0004970 -MONDO:0855160 signet ring cell/histiocytoid carcinoma NCIT:C167369 MONDO:equivalentTo Signet Ring Cell/Histiocytoid Carcinoma MONDO:0006973|MONDO:0004970 -MONDO:0855173 resectable glioma NCIT:C168573 MONDO:equivalentTo Resectable Glioma MONDO:0021042 -MONDO:0855181 phyllodes tumor of anogenital mammary-type glands NCIT:C168602 MONDO:equivalentTo Phyllodes Tumor of Anogenital Mammary-Type Glands MONDO:0005078 -MONDO:0855182 metastatic malignant neoplasm in the digestive system NCIT:C168669 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Digestive System MONDO:0002516|MONDO:0024880 -MONDO:0855187 unresectable round cell liposarcoma NCIT:C168724 MONDO:equivalentTo Unresectable Round Cell Liposarcoma MONDO:0005238 -MONDO:0855221 skin soft tissue neoplasm NCIT:C169100 MONDO:equivalentTo Skin Soft Tissue Neoplasm MONDO:0006424|MONDO:0002531 -MONDO:0855230 metastatic malignant head and neck neoplasm NCIT:C170467 MONDO:equivalentTo Metastatic Malignant Head and Neck Neoplasm MONDO:0005627|MONDO:0024880 -MONDO:0855232 skin pleomorphic liposarcoma NCIT:C170473 MONDO:equivalentTo Skin Pleomorphic Liposarcoma MONDO:0003600|MONDO:0020562 -MONDO:0855235 skin angiolipoma NCIT:C170478 MONDO:equivalentTo Skin Angiolipoma MONDO:0000964|MONDO:0006085 -MONDO:0855238 benign periampullary neoplasm NCIT:C170725 MONDO:equivalentTo Benign Periampullary Neoplasm MONDO:0006734 -MONDO:0855241 metastatic malignant breast neoplasm NCIT:C170728 MONDO:equivalentTo Metastatic Malignant Breast Neoplasm MONDO:0007254|MONDO:0024880 -MONDO:0855243 primary peritoneal adenocarcinoma NCIT:C170733 MONDO:equivalentTo Primary Peritoneal Adenocarcinoma MONDO:0015686|MONDO:0004970 -MONDO:0855244 appendix mucinous neoplasm NCIT:C170734 MONDO:equivalentTo Appendix Mucinous Neoplasm MONDO:0024338|MONDO:0001236 -MONDO:0855245 pleomorphic fibroma NCIT:C170736 MONDO:equivalentTo Pleomorphic Fibroma MONDO:0005167 -MONDO:0855249 non-muscle invasive bladder urothelial carcinoma NCIT:C170772 MONDO:equivalentTo Non-Muscle Invasive Bladder Urothelial Carcinoma MONDO:0003890|MONDO:0004200 -MONDO:0855250 alveolar ridge squamous cell carcinoma NCIT:C170774 MONDO:equivalentTo Alveolar Ridge Squamous Cell Carcinoma MONDO:0004958 -MONDO:0855252 metastatic malignant skin neoplasm NCIT:C170811 MONDO:equivalentTo Metastatic Malignant Skin Neoplasm MONDO:0024880|MONDO:0002898 -MONDO:0855256 metastatic rhabdoid tumor NCIT:C170828 MONDO:equivalentTo Metastatic Rhabdoid Tumor MONDO:0002728|MONDO:0024880 -MONDO:0855262 malignant jejunal neoplasm NCIT:C170919 MONDO:equivalentTo Malignant Jejunal Neoplasm MONDO:0002564|MONDO:0000956 -MONDO:0855263 metastatic carcinosarcoma NCIT:C170924 MONDO:equivalentTo Metastatic Carcinosarcoma MONDO:0024880|MONDO:0002928 -MONDO:0855266 malignant fundus neoplasm NCIT:C170940 MONDO:equivalentTo Malignant Fundus Neoplasm MONDO:0001056 -MONDO:0855281 human papillomavirus-related mucosal head and neck squamous cell carcinoma NCIT:C171023 MONDO:equivalentTo Human Papillomavirus-Related Mucosal Head and Neck Squamous Cell Carcinoma MONDO:0010150|MONDO:0020657 -MONDO:0855283 ovarian neuroendocrine carcinoma NCIT:C171032 MONDO:equivalentTo Ovarian Neuroendocrine Carcinoma MONDO:0002481|MONDO:0005140 -MONDO:0855284 endometrial neuroendocrine carcinoma NCIT:C171033 MONDO:equivalentTo Endometrial Neuroendocrine Carcinoma MONDO:0002447|MONDO:0021650 -MONDO:0855285 mediastinal non-hodgkin lymphoma NCIT:C171037 MONDO:equivalentTo Mediastinal Non-Hodgkin Lymphoma MONDO:0004021|MONDO:0018908 -MONDO:0855297 oligometastatic prostate carcinoma NCIT:C171265 MONDO:equivalentTo Oligometastatic Prostate Carcinoma MONDO:0004956 -MONDO:0855330 acute myeloid leukemia arising from previous myeloproliferative neoplasm NCIT:C172129 MONDO:equivalentTo Acute Myeloid Leukemia Arising from Previous Myeloproliferative Neoplasm MONDO:0019457 -MONDO:0855331 acute myeloid leukemia arising from previous myelodysplastic/myeloproliferative neoplasm NCIT:C172130 MONDO:equivalentTo Acute Myeloid Leukemia Arising from Previous Myelodysplastic/Myeloproliferative Neoplasm MONDO:0019457 -MONDO:0855335 progesterone receptor-positive malignant neoplasm NCIT:C172183 MONDO:equivalentTo Progesterone Receptor-Positive Malignant Neoplasm MONDO:0004992 -MONDO:0855336 sinusoidal hemangioma NCIT:C172206 MONDO:equivalentTo Sinusoidal Hemangioma MONDO:0006557 -MONDO:0855346 refractory myeloid neoplasm NCIT:C172281 MONDO:equivalentTo Refractory Myeloid Neoplasm MONDO:0005170|MONDO:0004111 -MONDO:0855368 skin ewing sarcoma NCIT:C172634 MONDO:equivalentTo Skin Ewing Sarcoma MONDO:0018270|MONDO:0006414 -MONDO:0855377 oxyntic gland adenoma NCIT:C172655 MONDO:equivalentTo Oxyntic Gland Adenoma MONDO:0006221 -MONDO:0855378 gastroblastoma NCIT:C172659 MONDO:equivalentTo Gastroblastoma MONDO:0001056 -MONDO:0855386 colorectal conventional adenoma NCIT:C172680 MONDO:equivalentTo Colorectal Conventional Adenoma MONDO:0005484 -MONDO:0855389 colorectal poorly cohesive adenocarcinoma NCIT:C172694 MONDO:equivalentTo Colorectal Poorly Cohesive Adenocarcinoma MONDO:0005008 -MONDO:0855390 colorectal adenoma-like adenocarcinoma NCIT:C172699 MONDO:equivalentTo Colorectal Adenoma-Like Adenocarcinoma MONDO:0005008|MONDO:0003204 -MONDO:0855391 inflammatory bowel disease-associated colorectal adenocarcinoma NCIT:C172700 MONDO:equivalentTo Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma MONDO:0005008 -MONDO:0855393 steatohepatitic hepatocellular carcinoma NCIT:C172709 MONDO:equivalentTo Steatohepatitic Hepatocellular Carcinoma MONDO:0007256 -MONDO:0855394 macrotrabecular massive hepatocellular carcinoma NCIT:C172710 MONDO:equivalentTo Macrotrabecular Massive Hepatocellular Carcinoma MONDO:0007256 -MONDO:0855395 chromophobe hepatocellular carcinoma NCIT:C172712 MONDO:equivalentTo Chromophobe Hepatocellular Carcinoma MONDO:0007256 -MONDO:0855396 neutrophil-rich hepatocellular carcinoma NCIT:C172713 MONDO:equivalentTo Neutrophil-Rich Hepatocellular Carcinoma MONDO:0007256 -MONDO:0855397 small hepatocellular carcinoma NCIT:C172714 MONDO:equivalentTo Small Hepatocellular Carcinoma MONDO:0007256 -MONDO:0855398 liver mixed adenoneuroendocrine carcinoma NCIT:C172718 MONDO:equivalentTo Liver Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0018531 -MONDO:0855401 gallbladder pyloric gland adenoma NCIT:C172731 MONDO:equivalentTo Gallbladder Pyloric Gland Adenoma MONDO:0006216 -MONDO:0855408 pancreatic poorly cohesive adenocarcinoma NCIT:C172811 MONDO:equivalentTo Pancreatic Poorly Cohesive Adenocarcinoma MONDO:0005184 -MONDO:0855409 pancreatic undifferentiated carcinoma with rhabdoid cells NCIT:C172812 MONDO:equivalentTo Pancreatic Undifferentiated Carcinoma with Rhabdoid Cells MONDO:0006478 -MONDO:0855413 conventional follicular dendritic cell sarcoma NCIT:C172846 MONDO:equivalentTo Conventional Follicular Dendritic Cell Sarcoma MONDO:0005764 -MONDO:0855418 digestive system soft tissue neoplasm NCIT:C172852 MONDO:equivalentTo Digestive System Soft Tissue Neoplasm MONDO:0006424|MONDO:0021223 -MONDO:0855432 sinonasal spindle cell squamous carcinoma NCIT:C173079 MONDO:equivalentTo Sinonasal Spindle Cell Squamous Carcinoma MONDO:0044787|MONDO:0021663 -MONDO:0855433 sinonasal lymphoepithelial carcinoma NCIT:C173080 MONDO:equivalentTo Sinonasal Lymphoepithelial Carcinoma MONDO:0002831|MONDO:0003572 -MONDO:0855435 head and neck nut carcinoma NCIT:C173087 MONDO:equivalentTo Head and Neck NUT Carcinoma MONDO:0005563|MONDO:0002038 -MONDO:0855439 malignant sinonasal neoplasm NCIT:C173097 MONDO:equivalentTo Malignant Sinonasal Neoplasm MONDO:0056820|MONDO:0005627 -MONDO:0855471 peritoneal implant NCIT:C173164 MONDO:equivalentTo Peritoneal Implant MONDO:0006901 -MONDO:0855472 sinonasal ameloblastoma NCIT:C173166 MONDO:equivalentTo Sinonasal Ameloblastoma MONDO:0056820 -MONDO:0855481 microsatellite stable colorectal carcinoma NCIT:C173324 MONDO:equivalentTo Microsatellite Stable Colorectal Carcinoma MONDO:0024331 -MONDO:0855487 nasopharyngeal adenoid cystic carcinoma NCIT:C173340 MONDO:equivalentTo Nasopharyngeal Adenoid Cystic Carcinoma MONDO:0006367|MONDO:0015459 -MONDO:0855489 ectopic pituitary neuroendocrine tumor NCIT:C173345 MONDO:equivalentTo Ectopic Pituitary Neuroendocrine Tumor MONDO:0006373 -MONDO:0855495 cutaneous merkel cell carcinoma NCIT:C173385 MONDO:equivalentTo Cutaneous Merkel Cell Carcinoma MONDO:0019210|MONDO:0002656 -MONDO:0855506 laryngeal chondroma NCIT:C173406 MONDO:equivalentTo Laryngeal Chondroma MONDO:0002360|MONDO:0002354 -MONDO:0855507 laryngeal chondrosarcoma NCIT:C173407 MONDO:equivalentTo Laryngeal Chondrosarcoma MONDO:0002448|MONDO:0008977 -MONDO:0855526 head and neck melanocytic neoplasm NCIT:C173488 MONDO:equivalentTo Head and Neck Melanocytic Neoplasm MONDO:0021143|MONDO:0005586 -MONDO:0855532 refractory primitive neuroectodermal tumor NCIT:C173565 MONDO:equivalentTo Refractory Primitive Neuroectodermal Tumor MONDO:0005462|MONDO:0036501 -MONDO:0855540 head and neck heterotopia-associated carcinoma NCIT:C173588 MONDO:equivalentTo Head and Neck Heterotopia-Associated Carcinoma MONDO:0002038 -MONDO:0855551 salivary gland poorly differentiated carcinoma NCIT:C173649 MONDO:equivalentTo Salivary Gland Poorly Differentiated Carcinoma MONDO:0000521 -MONDO:0855553 salivary gland lymphadenoma NCIT:C173659 MONDO:equivalentTo Salivary Gland Lymphadenoma MONDO:0021460 -MONDO:0855558 sialolipoma NCIT:C173682 MONDO:equivalentTo Sialolipoma MONDO:0021460 -MONDO:0855575 appendix disorder NCIT:C173799 MONDO:equivalentTo Appendix Disorder -MONDO:0855576 retroperitoneal undifferentiated pleomorphic sarcoma NCIT:C173808 MONDO:equivalentTo Retroperitoneal Undifferentiated Pleomorphic Sarcoma MONDO:0001501|MONDO:0002142 -MONDO:0855577 lung alveolar soft part sarcoma NCIT:C173809 MONDO:equivalentTo Lung Alveolar Soft Part Sarcoma MONDO:0002426|MONDO:0011655 -MONDO:0855584 maxillofacial neoplasm NCIT:C173845 MONDO:equivalentTo Maxillofacial Neoplasm MONDO:0019060|MONDO:0024653 -MONDO:0855590 craniofacial fibrous dysplasia NCIT:C173926 MONDO:equivalentTo Craniofacial Fibrous Dysplasia MONDO:0000845 -MONDO:0855591 benign head and neck neoplasm NCIT:C173932 MONDO:equivalentTo Benign Head and Neck Neoplasm MONDO:0005165|MONDO:0005586 -MONDO:0855593 aggressive papillary tumor NCIT:C174022 MONDO:equivalentTo Aggressive Papillary Tumor MONDO:0021096|MONDO:0021366 -MONDO:0855594 benign inner ear neoplasm NCIT:C174023 MONDO:equivalentTo Benign Inner Ear Neoplasm MONDO:0021474|MONDO:0024320 -MONDO:0855597 malignant inner ear neoplasm NCIT:C174026 MONDO:equivalentTo Malignant Inner Ear Neoplasm MONDO:0003277|MONDO:0024320 -MONDO:0855616 conjunctival oncocytoma NCIT:C174388 MONDO:equivalentTo Conjunctival Oncocytoma MONDO:0010795|MONDO:0006105 -MONDO:0855617 conjunctival keratoacanthoma NCIT:C174390 MONDO:equivalentTo Conjunctival Keratoacanthoma MONDO:0006173|MONDO:0002527 -MONDO:0855618 conjunctival spindle cell carcinoma NCIT:C174398 MONDO:equivalentTo Conjunctival Spindle Cell Carcinoma MONDO:0006173|MONDO:0021663 -MONDO:0855620 conjunctival carcinoma NCIT:C174403 MONDO:equivalentTo Conjunctival Carcinoma MONDO:0002466|MONDO:0003454 -MONDO:0855625 conjunctival subepithelial (stromal) nevus NCIT:C174426 MONDO:equivalentTo Conjunctival Subepithelial (Stromal) Nevus MONDO:0006172 -MONDO:0855630 conjunctival blue nevus NCIT:C174452 MONDO:equivalentTo Conjunctival Blue Nevus MONDO:0006172 -MONDO:0855631 atypical ewing sarcoma NCIT:C174456 MONDO:equivalentTo Atypical Ewing Sarcoma MONDO:0012817 -MONDO:0855633 conjunctival spitz nevus NCIT:C174493 MONDO:equivalentTo Conjunctival Spitz Nevus MONDO:0006172 -MONDO:0855634 metastatic malignant neoplasm in the conjunctiva NCIT:C174496 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Conjunctiva MONDO:0044913|MONDO:0003454 -MONDO:0855635 iris epithelioid cell melanoma NCIT:C174498 MONDO:equivalentTo Iris Epithelioid Cell Melanoma MONDO:0004064|MONDO:0006200 -MONDO:0855640 iris mixed epithelioid and spindle cell melanoma NCIT:C174506 MONDO:equivalentTo Iris Mixed Epithelioid and Spindle Cell Melanoma MONDO:0004064|MONDO:0003910 -MONDO:0855641 metastatic malignant neoplasm in the uvea NCIT:C174507 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Uvea MONDO:0002659|MONDO:0044913 -MONDO:0855646 retinal astrocytoma NCIT:C174539 MONDO:equivalentTo Retinal Astrocytoma MONDO:0024649|MONDO:0021231 -MONDO:0855649 adenoma of the retinal pigment epithelium NCIT:C174550 MONDO:equivalentTo Adenoma of the Retinal Pigment Epithelium MONDO:0021453|MONDO:0004972 -MONDO:0855650 retinal pigment epithelium adenocarcinoma NCIT:C174551 MONDO:equivalentTo Retinal Pigment Epithelium Adenocarcinoma MONDO:0002466|MONDO:0003072|MONDO:0004970 -MONDO:0855653 ciliary body adenoma NCIT:C174560 MONDO:equivalentTo Ciliary Body Adenoma MONDO:0021486|MONDO:0004972 -MONDO:0855654 ciliary body adenocarcinoma NCIT:C174561 MONDO:equivalentTo Ciliary Body Adenocarcinoma MONDO:0002466|MONDO:0002969|MONDO:0004970 -MONDO:0855667 incidental gallbladder carcinoma NCIT:C175214 MONDO:equivalentTo Incidental Gallbladder Carcinoma MONDO:0003220 -MONDO:0855668 metastatic malignant neoplasm in the regional lymph nodes NCIT:C175222 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Regional Lymph Nodes MONDO:0005438 -MONDO:0855669 lacrimal gland oncocytoma NCIT:C175264 MONDO:equivalentTo Lacrimal Gland Oncocytoma MONDO:0010795|MONDO:0021488 -MONDO:0855671 lacrimal gland myoepithelial carcinoma NCIT:C175274 MONDO:equivalentTo Lacrimal Gland Myoepithelial Carcinoma MONDO:0003158|MONDO:0002463 -MONDO:0855672 lacrimal gland carcinosarcoma NCIT:C175279 MONDO:equivalentTo Lacrimal Gland Carcinosarcoma MONDO:0002464|MONDO:0002928 -MONDO:0855673 lacrimal gland epithelial-myoepithelial carcinoma NCIT:C175288 MONDO:equivalentTo Lacrimal Gland Epithelial-Myoepithelial Carcinoma MONDO:0002463|MONDO:0003389 -MONDO:0855674 lacrimal gland acinic cell carcinoma NCIT:C175290 MONDO:equivalentTo Lacrimal Gland Acinic Cell Carcinoma MONDO:0002475|MONDO:0004965 -MONDO:0855675 lacrimal gland warthin tumor NCIT:C175291 MONDO:equivalentTo Lacrimal Gland Warthin Tumor MONDO:0021488|MONDO:0006493 -MONDO:0855677 benign lacrimal system neoplasm NCIT:C175307 MONDO:equivalentTo Benign Lacrimal System Neoplasm MONDO:0002460|MONDO:0021454 -MONDO:0855678 malignant lacrimal system neoplasm NCIT:C175308 MONDO:equivalentTo Malignant Lacrimal System Neoplasm MONDO:0002460|MONDO:0002236 -MONDO:0855679 lacrimal drainage system neoplasm NCIT:C175316 MONDO:equivalentTo Lacrimal Drainage System Neoplasm MONDO:0002460 -MONDO:0855684 lacrimal drainage system non-keratinizing squamous cell carcinoma NCIT:C175335 MONDO:equivalentTo Lacrimal Drainage System Non-Keratinizing Squamous Cell Carcinoma MONDO:0003492 -MONDO:0855694 conjunctival non-hodgkin lymphoma NCIT:C175432 MONDO:equivalentTo Conjunctival Non-Hodgkin Lymphoma MONDO:0004034|MONDO:0003454 -MONDO:0855700 primary uveal non-hodgkin lymphoma NCIT:C175451 MONDO:equivalentTo Primary Uveal Non-Hodgkin Lymphoma MONDO:0004351|MONDO:0002659|MONDO:0017594 -MONDO:0855708 conjunctival myxoma NCIT:C175495 MONDO:equivalentTo Conjunctival Myxoma MONDO:0044784|MONDO:0006105 -MONDO:0855710 conjunctival hemangioma NCIT:C175497 MONDO:equivalentTo Conjunctival Hemangioma MONDO:0006105|MONDO:0006500 -MONDO:0855711 conjunctival lymphangioma NCIT:C175498 MONDO:equivalentTo Conjunctival Lymphangioma MONDO:0002013|MONDO:0006105 -MONDO:0855715 conjunctival sarcoma NCIT:C175502 MONDO:equivalentTo Conjunctival Sarcoma MONDO:0018078|MONDO:0003454 -MONDO:0855718 malignant hypothalamic neoplasm NCIT:C175539 MONDO:equivalentTo Malignant Hypothalamic Neoplasm MONDO:0002786|MONDO:0006799 -MONDO:0855721 breast polymorphous adenocarcinoma NCIT:C175604 MONDO:equivalentTo Breast Polymorphous Adenocarcinoma MONDO:0006256 -MONDO:0855722 breast tall cell carcinoma with reversed polarity NCIT:C175607 MONDO:equivalentTo Breast Tall Cell Carcinoma with Reversed Polarity MONDO:0006256 -MONDO:0855725 metastatic malignant glomus tumor NCIT:C175662 MONDO:equivalentTo Metastatic Malignant Glomus Tumor MONDO:0003340|MONDO:0024880 -MONDO:0855727 locally invasive desmoid-type fibromatosis NCIT:C175667 MONDO:equivalentTo Locally Invasive Desmoid-Type Fibromatosis MONDO:0007608 -MONDO:0855734 metastatic malignant neoplasm in the supraclavicular lymph nodes NCIT:C175934 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Supraclavicular Lymph Nodes MONDO:0005438 -MONDO:0855737 breast classic lobular carcinoma in situ NCIT:C175949 MONDO:equivalentTo Breast Classic Lobular Carcinoma In Situ MONDO:0006270 -MONDO:0855738 breast florid lobular carcinoma in situ NCIT:C175950 MONDO:equivalentTo Breast Florid Lobular Carcinoma In Situ MONDO:0006270 -MONDO:0855740 breast ductal carcinoma in situ, comedo type NCIT:C176005 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Comedo Type MONDO:0003575|MONDO:0005023 -MONDO:0855747 ocular surface squamous neoplasia NCIT:C176043 MONDO:equivalentTo Ocular Surface Squamous Neoplasia MONDO:0020204 -MONDO:0855748 breast cellular fibroadenoma NCIT:C176045 MONDO:equivalentTo Breast Cellular Fibroadenoma MONDO:0002056 -MONDO:0855749 primary breast angiosarcoma NCIT:C176251 MONDO:equivalentTo Primary Breast Angiosarcoma MONDO:0003024 -MONDO:0855751 breast angiolipoma NCIT:C176255 MONDO:equivalentTo Breast Angiolipoma MONDO:0000970|MONDO:0006085 -MONDO:0855753 breast schwannoma NCIT:C176414 MONDO:equivalentTo Breast Schwannoma MONDO:0000620|MONDO:0004820 -MONDO:0855754 breast neurofibroma NCIT:C176415 MONDO:equivalentTo Breast Neurofibroma MONDO:0000620|MONDO:0016755 -MONDO:0855756 synovial chondrosarcoma NCIT:C176467 MONDO:equivalentTo Synovial Chondrosarcoma MONDO:0018078|MONDO:0002403|MONDO:0008977 -MONDO:0855757 male breast carcinoma in situ NCIT:C176503 MONDO:equivalentTo Male Breast Carcinoma In Situ MONDO:0005628|MONDO:0004658 -MONDO:0855758 invasive male breast carcinoma NCIT:C176504 MONDO:equivalentTo Invasive Male Breast Carcinoma MONDO:0006256|MONDO:0005628 -MONDO:0855763 invasive female breast carcinoma NCIT:C176579 MONDO:equivalentTo Invasive Female Breast Carcinoma MONDO:0006256|MONDO:0004379 -MONDO:0855764 female breast carcinoma in situ NCIT:C176580 MONDO:equivalentTo Female Breast Carcinoma In Situ MONDO:0004658|MONDO:0004379 -MONDO:0855783 functioning lung neuroendocrine tumor NCIT:C176705 MONDO:equivalentTo Functioning Lung Neuroendocrine Tumor MONDO:0021120|MONDO:0006041 -MONDO:0855784 non-functioning lung neuroendocrine tumor NCIT:C176706 MONDO:equivalentTo Non-Functioning Lung Neuroendocrine Tumor MONDO:0021119|MONDO:0006041 -MONDO:0855809 metastatic malignant thoracic neoplasm NCIT:C176862 MONDO:equivalentTo Metastatic Malignant Thoracic Neoplasm MONDO:0024880|MONDO:0003274 -MONDO:0855811 psammocarcinoma NCIT:C176887 MONDO:equivalentTo Psammocarcinoma MONDO:0004970 -MONDO:0855859 infantile myofibromatosis 1 NCIT:C176943 MONDO:equivalentTo Infantile Myofibromatosis 1 MONDO:0016824 -MONDO:0855860 infantile myofibromatosis 2 NCIT:C176944 MONDO:equivalentTo Infantile Myofibromatosis 2 MONDO:0016824 -MONDO:0855861 lipoma-like atypical lipomatous tumor/well differentiated liposarcoma NCIT:C176979 MONDO:equivalentTo Lipoma-Like Atypical Lipomatous Tumor/Well Differentiated Liposarcoma MONDO:0006097 -MONDO:0855862 superficial atypical lipomatous tumor/well differentiated liposarcoma NCIT:C176980 MONDO:equivalentTo Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma MONDO:0006097 -MONDO:0855863 atypical lipomatous tumor/well differentiated liposarcoma of deep soft tissue NCIT:C176981 MONDO:equivalentTo Atypical Lipomatous Tumor/Well Differentiated Liposarcoma of Deep Soft Tissue MONDO:0006097 -MONDO:0855864 myxoid pleomorphic liposarcoma NCIT:C176989 MONDO:equivalentTo Myxoid Pleomorphic Liposarcoma MONDO:0005060 -MONDO:0855883 plaque-like dermatofibrosarcoma protuberans NCIT:C177325 MONDO:equivalentTo Plaque-Like Dermatofibrosarcoma Protuberans MONDO:0011934 -MONDO:0855884 somatic-type malignancy NCIT:C177364 MONDO:equivalentTo Somatic-Type Malignancy MONDO:0004992 -MONDO:0855885 epithelioid myxofibrosarcoma NCIT:C177414 MONDO:equivalentTo Epithelioid Myxofibrosarcoma MONDO:0019202 -MONDO:0855891 bladder flat urothelial carcinoma NCIT:C177531 MONDO:equivalentTo Bladder Flat Urothelial Carcinoma MONDO:0005611 -MONDO:0855897 epithelioid hemangioendothelioma with wwtr1-camta1 gene fusion NCIT:C177552 MONDO:equivalentTo Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion MONDO:0015523 -MONDO:0855898 epithelioid hemangioendothelioma with yap1-tfe3 gene fusion NCIT:C177553 MONDO:equivalentTo Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion MONDO:0015523 -MONDO:0855909 who grade 1 glioma NCIT:C177797 MONDO:equivalentTo WHO Grade 1 Glioma MONDO:0021637 -MONDO:0855911 poorly differentiated chordoma NCIT:C177898 MONDO:equivalentTo Poorly Differentiated Chordoma MONDO:0008978 -MONDO:0855914 ebv-associated smooth muscle tumor NCIT:C178217 MONDO:equivalentTo EBV-Associated Smooth Muscle Tumor MONDO:0006975 -MONDO:0855915 pleomorphic leiomyosarcoma NCIT:C178220 MONDO:equivalentTo Pleomorphic Leiomyosarcoma MONDO:0005058 -MONDO:0855916 epithelioid schwannoma NCIT:C178245 MONDO:equivalentTo Epithelioid Schwannoma MONDO:0002546 -MONDO:0855929 round cell sarcoma with ewsr1-non-ets fusion NCIT:C178459 MONDO:equivalentTo Round Cell Sarcoma with EWSR1-non-ETS Fusion MONDO:0006974 -MONDO:0855930 sarcoma with bcor genetic alterations NCIT:C178465 MONDO:equivalentTo Sarcoma with BCOR Genetic Alterations MONDO:0006974 -MONDO:0855935 gastric melanoma NCIT:C178519 MONDO:equivalentTo Gastric Melanoma MONDO:0001056|MONDO:0045070 -MONDO:0855938 yolk sac tumor with somatic-type malignancy NCIT:C178523 MONDO:equivalentTo Yolk Sac Tumor with Somatic-Type Malignancy MONDO:0005744 -MONDO:0855939 conventional chordoma NCIT:C178563 MONDO:equivalentTo Conventional Chordoma MONDO:0008978 -MONDO:0855941 bone langerhans cell histiocytosis NCIT:C178607 MONDO:equivalentTo Bone Langerhans Cell Histiocytosis MONDO:0019060|MONDO:0018310 -MONDO:0855942 bone erdheim-chester disease NCIT:C178609 MONDO:equivalentTo Bone Erdheim-Chester Disease MONDO:0019060|MONDO:0018153 -MONDO:0855961 b-cell lymphoproliferative disorder NCIT:C179052 MONDO:equivalentTo B-Cell Lymphoproliferative Disorder -MONDO:0855962 t/nk-cell lymphoproliferative disorder NCIT:C179053 MONDO:equivalentTo T/NK-Cell Lymphoproliferative Disorder -MONDO:0855976 ovarian signet ring cell carcinoma NCIT:C179208 MONDO:equivalentTo Ovarian Signet Ring Cell Carcinoma MONDO:0002752|MONDO:0005092 -MONDO:0855982 myxoid glioneuronal tumor NCIT:C179229 MONDO:equivalentTo Myxoid Glioneuronal Tumor MONDO:0016729 -MONDO:0855983 borderline ovarian seromucinous tumor NCIT:C179259 MONDO:equivalentTo Borderline Ovarian Seromucinous Tumor MONDO:0016093|MONDO:0003811 -MONDO:0855987 mesonephric-like adenocarcinoma NCIT:C179320 MONDO:equivalentTo Mesonephric-Like Adenocarcinoma MONDO:0001416|MONDO:0004970 -MONDO:0855990 ovarian dedifferentiated carcinoma NCIT:C179334 MONDO:equivalentTo Ovarian Dedifferentiated Carcinoma MONDO:0005140 -MONDO:0855991 ovarian mixed cell adenocarcinoma NCIT:C179339 MONDO:equivalentTo Ovarian Mixed Cell Adenocarcinoma MONDO:0002752 -MONDO:0855993 giant cell-rich osteosarcoma NCIT:C179410 MONDO:equivalentTo Giant Cell-Rich Osteosarcoma MONDO:0002631 -MONDO:0855995 unresectable plexiform neurofibroma NCIT:C179423 MONDO:equivalentTo Unresectable Plexiform Neurofibroma MONDO:0003304 -MONDO:0855999 ovarian neuroectodermal-type tumor NCIT:C179474 MONDO:equivalentTo Ovarian Neuroectodermal-Type Tumor MONDO:0008170 -MONDO:0856000 ovarian wolffian tumor NCIT:C179548 MONDO:equivalentTo Ovarian Wolffian Tumor MONDO:0002229|MONDO:0004255 -MONDO:0856002 her2-low breast carcinoma NCIT:C179553 MONDO:equivalentTo HER2-Low Breast Carcinoma MONDO:0004988 -MONDO:0856003 peritoneal calcifying fibrous tumor NCIT:C179560 MONDO:equivalentTo Peritoneal Calcifying Fibrous Tumor MONDO:0000650|MONDO:0006121 -MONDO:0856016 basal ganglia neoplasm NCIT:C179882 MONDO:equivalentTo Basal Ganglia Neoplasm MONDO:0021374 -MONDO:0856017 cerebellar peduncle neoplasm NCIT:C179883 MONDO:equivalentTo Cerebellar Peduncle Neoplasm MONDO:0002913 -MONDO:0856018 corpus callosum neoplasm NCIT:C179884 MONDO:equivalentTo Corpus Callosum Neoplasm MONDO:0021374 -MONDO:0856019 oral cavity carcinoma cuniculatum NCIT:C179894 MONDO:equivalentTo Oral Cavity Carcinoma Cuniculatum MONDO:0021538 -MONDO:0856021 uterine ligament leiomyoma NCIT:C179923 MONDO:equivalentTo Uterine Ligament Leiomyoma MONDO:0001572|MONDO:0020582 -MONDO:0856022 uterine ligament adenomyoma NCIT:C179925 MONDO:equivalentTo Uterine Ligament Adenomyoma MONDO:0005635|MONDO:0020582 -MONDO:0856024 uterine ligament wolffian tumor NCIT:C179927 MONDO:equivalentTo Uterine Ligament Wolffian Tumor MONDO:0004255|MONDO:0021629 -MONDO:0856025 uterine ligament ependymoma NCIT:C179928 MONDO:equivalentTo Uterine Ligament Ependymoma MONDO:0021629 -MONDO:0856026 broad ligament neoplasm NCIT:C179931 MONDO:equivalentTo Broad Ligament Neoplasm MONDO:0021629 -MONDO:0856027 microsatellite stable ovarian carcinoma NCIT:C180332 MONDO:equivalentTo Microsatellite Stable Ovarian Carcinoma MONDO:0005140 -MONDO:0856028 microsatellite stable endometrial carcinoma NCIT:C180335 MONDO:equivalentTo Microsatellite Stable Endometrial Carcinoma MONDO:0002447 -MONDO:0856030 polymorphous low grade neuroepithelial tumor of the young NCIT:C180378 MONDO:equivalentTo Polymorphous Low Grade Neuroepithelial Tumor of the Young MONDO:0016729|MONDO:0021632 -MONDO:0856033 tectal glioma NCIT:C180407 MONDO:equivalentTo Tectal Glioma MONDO:0021042 -MONDO:0856035 pole-ultramutated endometrial endometrioid adenocarcinoma NCIT:C180512 MONDO:equivalentTo POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma MONDO:0006192 -MONDO:0856036 mismatch repair-deficient endometrial endometrioid adenocarcinoma NCIT:C180514 MONDO:equivalentTo Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma MONDO:0006192 -MONDO:0856037 p53-mutant endometrial endometrioid adenocarcinoma NCIT:C180515 MONDO:equivalentTo p53-Mutant Endometrial Endometrioid Adenocarcinoma MONDO:0006192 -MONDO:0856038 no specific molecular profile endometrial endometrioid adenocarcinoma NCIT:C180516 MONDO:equivalentTo No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma MONDO:0006192 -MONDO:0856040 dysembryoplastic neuroepithelial-like tumor of the septum pellucidum NCIT:C180532 MONDO:equivalentTo Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum MONDO:0016729 -MONDO:0856041 endometrial mucinous adenocarcinoma, intestinal-type NCIT:C180536 MONDO:equivalentTo Endometrial Mucinous Adenocarcinoma, Intestinal-Type MONDO:0005461|MONDO:0006254 -MONDO:0856042 endometrial mucinous adenocarcinoma, gastric-type NCIT:C180537 MONDO:equivalentTo Endometrial Mucinous Adenocarcinoma, Gastric-Type MONDO:0005461 -MONDO:0856044 uterine corpus central primitive neuroectodermal tumor NCIT:C180546 MONDO:equivalentTo Uterine Corpus Central Primitive Neuroectodermal Tumor MONDO:0005210|MONDO:0006974 -MONDO:0856048 urothelial carcinoma, high grade NCIT:C180606 MONDO:equivalentTo Urothelial Carcinoma, High Grade MONDO:0040679 -MONDO:0856052 gestational trophoblastic disorder NCIT:C180633 MONDO:equivalentTo Gestational Trophoblastic Disorder -MONDO:0856053 mixed trophoblastic tumor NCIT:C180634 MONDO:equivalentTo Mixed Trophoblastic Tumor MONDO:0018944 -MONDO:0856054 metastatic hydatidiform mole NCIT:C180635 MONDO:equivalentTo Metastatic Hydatidiform Mole MONDO:0020549 -MONDO:0856055 low grade papillary schneiderian carcinoma NCIT:C180670 MONDO:equivalentTo Low Grade Papillary Schneiderian Carcinoma MONDO:0056819 -MONDO:0856057 cervical squamous cell carcinoma, not otherwise specified NCIT:C180839 MONDO:equivalentTo Cervical Squamous Cell Carcinoma, Not Otherwise Specified MONDO:0006143 -MONDO:0856060 human papillomavirus-independent cervical adenocarcinoma NCIT:C180848 MONDO:equivalentTo Human Papillomavirus-Independent Cervical Adenocarcinoma MONDO:0005153 -MONDO:0856067 cervical adenocarcinoma, not otherwise specified NCIT:C180870 MONDO:equivalentTo Cervical Adenocarcinoma, Not Otherwise Specified MONDO:0005153 -MONDO:0856070 cervical mucoepidermoid carcinoma NCIT:C180878 MONDO:equivalentTo Cervical Mucoepidermoid Carcinoma MONDO:0005131|MONDO:0003036 -MONDO:0856071 cervical germ cell tumor NCIT:C180879 MONDO:equivalentTo Cervical Germ Cell Tumor MONDO:0005040|MONDO:0021230 -MONDO:0856072 minor salivary gland intraductal papillary neoplasm NCIT:C180880 MONDO:equivalentTo Minor Salivary Gland Intraductal Papillary Neoplasm MONDO:0021370 -MONDO:0856074 adult myofibroma NCIT:C180888 MONDO:equivalentTo Adult Myofibroma MONDO:0006312 -MONDO:0856077 human papillomavirus-related vaginal squamous cell carcinoma NCIT:C180917 MONDO:equivalentTo Human Papillomavirus-Related Vaginal Squamous Cell Carcinoma MONDO:0020657|MONDO:0006490 -MONDO:0856083 vaginal adenocarcinoma of skene gland origin NCIT:C180947 MONDO:equivalentTo Vaginal Adenocarcinoma of Skene Gland Origin MONDO:0020653|MONDO:0004173 -MONDO:0856100 hybrid salivary gland tumor NCIT:C181078 MONDO:equivalentTo Hybrid Salivary Gland Tumor MONDO:0021043|MONDO:0021357 -MONDO:0856104 eyelid basal cell carcinoma NCIT:C181159 MONDO:equivalentTo Eyelid Basal Cell Carcinoma MONDO:0003876|MONDO:0005341 -MONDO:0856106 major salivary gland squamous cell carcinoma NCIT:C181161 MONDO:equivalentTo Major Salivary Gland Squamous Cell Carcinoma MONDO:0044740|MONDO:0006284 -MONDO:0856110 lung rhabdomyosarcoma NCIT:C181201 MONDO:equivalentTo Lung Rhabdomyosarcoma MONDO:0002426|MONDO:0005212 -MONDO:0856111 lung hodgkin lymphoma NCIT:C181205 MONDO:equivalentTo Lung Hodgkin Lymphoma MONDO:0004952|MONDO:0003987 -MONDO:0856112 primary bone hodgkin lymphoma NCIT:C181207 MONDO:equivalentTo Primary Bone Hodgkin Lymphoma MONDO:0004952|MONDO:0017814 -MONDO:0856114 cervical cancer by ajcc v9 stage NCIT:C181562 MONDO:equivalentTo Cervical Cancer by AJCC v9 Stage MONDO:0005131 -MONDO:0856117 epiglottic squamous cell carcinoma NCIT:C181714 MONDO:equivalentTo Epiglottic Squamous Cell Carcinoma MONDO:0004293|MONDO:0004473 -MONDO:0856124 vulvar squamous cell carcinoma, not otherwise specified NCIT:C181902 MONDO:equivalentTo Vulvar Squamous Cell Carcinoma, Not Otherwise Specified MONDO:0024609 -MONDO:0856128 endometrial mucosa-associated lymphoid tissue lymphoma NCIT:C181910 MONDO:equivalentTo Endometrial Mucosa-Associated Lymphoid Tissue Lymphoma MONDO:0007650|MONDO:0011962 -MONDO:0856134 vulvar kaposi sarcoma NCIT:C181938 MONDO:equivalentTo Vulvar Kaposi Sarcoma MONDO:0005055|MONDO:0005214 -MONDO:0856136 vulvar rhabdomyosarcoma NCIT:C181944 MONDO:equivalentTo Vulvar Rhabdomyosarcoma MONDO:0005214|MONDO:0005212 -MONDO:0856137 vulvar epithelioid sarcoma NCIT:C181971 MONDO:equivalentTo Vulvar Epithelioid Sarcoma MONDO:0005214|MONDO:0017387 -MONDO:0856139 vulvar ewing sarcoma NCIT:C181977 MONDO:equivalentTo Vulvar Ewing Sarcoma MONDO:0018270|MONDO:0005214 -MONDO:0856154 bronchiolar adenoma/ciliated muconodular papillary tumor NCIT:C183045 MONDO:equivalentTo Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor MONDO:0003422 -MONDO:0856155 invasive lung non-mucinous adenocarcinoma NCIT:C183109 MONDO:equivalentTo Invasive Lung Non-Mucinous Adenocarcinoma MONDO:0040677|MONDO:0005061 -MONDO:0856156 thoracic smarca4-deficient undifferentiated tumor NCIT:C183115 MONDO:equivalentTo Thoracic SMARCA4-Deficient Undifferentiated Tumor MONDO:0003274 -MONDO:0856158 lung intravascular large b-cell lymphoma NCIT:C183121 MONDO:equivalentTo Lung Intravascular Large B-Cell Lymphoma MONDO:0006387|MONDO:0020324 -MONDO:0856161 pleural mesothelioma in situ NCIT:C183134 MONDO:equivalentTo Pleural Mesothelioma In Situ MONDO:0003308 -MONDO:0856165 cardiac diffuse large b-cell lymphoma NCIT:C183146 MONDO:equivalentTo Cardiac Diffuse Large B-Cell Lymphoma MONDO:0018905|MONDO:0003917 -MONDO:0856172 pleural calcifying fibrous tumor NCIT:C183277 MONDO:equivalentTo Pleural Calcifying Fibrous Tumor MONDO:0006121|MONDO:0021457 -MONDO:0856178 thymic carcinoma with adenoid cystic carcinoma-like features NCIT:C183313 MONDO:equivalentTo Thymic Carcinoma with Adenoid Cystic Carcinoma-Like Features MONDO:0006451 -MONDO:0856179 thymic enteric-type adenocarcinoma NCIT:C183314 MONDO:equivalentTo Thymic Enteric-Type Adenocarcinoma MONDO:0003209|MONDO:0006254 -MONDO:0856180 thymic adenocarcinoma, not otherwise specified NCIT:C183315 MONDO:equivalentTo Thymic Adenocarcinoma, Not Otherwise Specified MONDO:0003209 -MONDO:0856181 thymic carcinoma, not otherwise specified NCIT:C183316 MONDO:equivalentTo Thymic Carcinoma, Not Otherwise Specified MONDO:0006451 -MONDO:0856182 mediastinal follicular dendritic cell sarcoma NCIT:C183374 MONDO:equivalentTo Mediastinal Follicular Dendritic Cell Sarcoma MONDO:0005764|MONDO:0005843 -MONDO:0856183 metastatic malignant neoplasm in the mediastinal lymph nodes NCIT:C183510 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Mediastinal Lymph Nodes MONDO:0005438 -MONDO:0856191 salivary gland adenoma NCIT:C184295 MONDO:equivalentTo Salivary Gland Adenoma MONDO:0021460|MONDO:0004972 -MONDO:0856197 multiple solitary plasmacytoma of bone NCIT:C185035 MONDO:equivalentTo Multiple Solitary Plasmacytoma of Bone MONDO:0002755 -MONDO:0856199 splenic plasmacytoma NCIT:C185041 MONDO:equivalentTo Splenic Plasmacytoma MONDO:0002754|MONDO:0005966 -MONDO:0856204 extramedullary disease in multiple myeloma NCIT:C185149 MONDO:equivalentTo Extramedullary Disease in Multiple Myeloma MONDO:0009693 -MONDO:0856206 astrocytoma, idh-mutant NCIT:C185167 MONDO:equivalentTo Astrocytoma, IDH-Mutant MONDO:0019781 -MONDO:0856207 astrocytoma, idh-wildtype NCIT:C185184 MONDO:equivalentTo Astrocytoma, IDH-Wildtype MONDO:0019781 -MONDO:0856208 astrocytoma, not otherwise specified NCIT:C185185 MONDO:equivalentTo Astrocytoma, Not Otherwise Specified MONDO:0019781 -MONDO:0856216 extranodal lymphoma NCIT:C185752 MONDO:equivalentTo Extranodal Lymphoma MONDO:0017207 -MONDO:0856218 high grade astrocytoma with piloid features NCIT:C185879 MONDO:equivalentTo High Grade Astrocytoma with Piloid Features MONDO:0016684 -MONDO:0856232 spinal cord ependymoma, mycn amplified NCIT:C186494 MONDO:equivalentTo Spinal Cord Ependymoma, MYCN Amplified MONDO:0002542|MONDO:0016698 -MONDO:0856233 childhood spinal cord ependymoma NCIT:C186495 MONDO:equivalentTo Childhood Spinal Cord Ependymoma MONDO:0002716|MONDO:0003478|MONDO:0003473 -MONDO:0856234 central nervous system neuroblastoma, foxr2-activated NCIT:C186547 MONDO:equivalentTo Central Nervous System Neuroblastoma, FOXR2-Activated MONDO:0002900 -MONDO:0856238 primary intracranial sarcoma, dicer1-mutant NCIT:C186610 MONDO:equivalentTo Primary Intracranial Sarcoma, DICER1-Mutant MONDO:0002216 -MONDO:0856239 central nervous system ewing sarcoma NCIT:C186611 MONDO:equivalentTo Central Nervous System Ewing Sarcoma MONDO:0018270|MONDO:0002217|MONDO:0016713 -MONDO:0856240 intracranial mesenchymal tumor, fet-creb fusion-positive NCIT:C186614 MONDO:equivalentTo Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive MONDO:0003244|MONDO:0021632 -MONDO:0856241 cervical cancer by figo stage 2009 NCIT:C186619 MONDO:equivalentTo Cervical Cancer by FIGO Stage 2009 MONDO:0005131 -MONDO:0856244 central nervous system lymphomatoid granulomatosis NCIT:C186662 MONDO:equivalentTo Central Nervous System Lymphomatoid Granulomatosis MONDO:0019466|MONDO:0003641 -MONDO:0856246 smarcb1 schwannomatosis 1 NCIT:C186703 MONDO:equivalentTo SMARCB1 Schwannomatosis 1 MONDO:0008075 -MONDO:0856247 lztr1 schwannomatosis 2 NCIT:C186704 MONDO:equivalentTo LZTR1 Schwannomatosis 2 MONDO:0008075 -MONDO:0856253 childhood acute leukemia NCIT:C187056 MONDO:equivalentTo Childhood Acute Leukemia MONDO:0010643|MONDO:0004355 -MONDO:0856254 pituitary neuroendocrine tumor of pit1-lineage NCIT:C187086 MONDO:equivalentTo Pituitary Neuroendocrine Tumor of PIT1-Lineage MONDO:0006373 -MONDO:0856255 pituitary neuroendocrine tumor of tpit-lineage NCIT:C187087 MONDO:equivalentTo Pituitary Neuroendocrine Tumor of TPIT-Lineage MONDO:0006373 -MONDO:0856256 pituitary neuroendocrine tumor of sf1-lineage NCIT:C187088 MONDO:equivalentTo Pituitary Neuroendocrine Tumor of SF1-Lineage MONDO:0006373 -MONDO:0856257 pituitary neuroendocrine tumor without distinct lineage differentiation NCIT:C187096 MONDO:equivalentTo Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation MONDO:0006373 -MONDO:0856258 pituitary neuroendocrine tumor, not otherwise specified NCIT:C187135 MONDO:equivalentTo Pituitary Neuroendocrine Tumor, Not Otherwise Specified MONDO:0006373 -MONDO:0856267 thyroid gland follicular adenoma with papillary architecture NCIT:C187261 MONDO:equivalentTo Thyroid Gland Follicular Adenoma with Papillary Architecture MONDO:0005032 -MONDO:0856268 low risk thyroid gland neoplasm NCIT:C187273 MONDO:equivalentTo Low Risk Thyroid Gland Neoplasm MONDO:0015074 -MONDO:0856272 invasive breast lobular carcinoma with extracellular mucin NCIT:C187405 MONDO:equivalentTo Invasive Breast Lobular Carcinoma with Extracellular Mucin MONDO:0005051 -MONDO:0856275 thyroid gland follicular carcinoma, signet ring cell variant NCIT:C187643 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Signet Ring Cell Variant MONDO:0005034 -MONDO:0856276 classic thyroid gland papillary carcinoma NCIT:C187644 MONDO:equivalentTo Classic Thyroid Gland Papillary Carcinoma MONDO:0005075 -MONDO:0856277 high grade follicular cell-derived non-anaplastic thyroid gland carcinoma NCIT:C187645 MONDO:equivalentTo High Grade Follicular Cell-Derived Non-Anaplastic Thyroid Gland Carcinoma MONDO:0024622 -MONDO:0856285 thyroid gland secretory carcinoma NCIT:C187994 MONDO:equivalentTo Thyroid Gland Secretory Carcinoma MONDO:0024622 -MONDO:0856286 thyroblastoma NCIT:C187995 MONDO:equivalentTo Thyroblastoma MONDO:0002108|MONDO:0005564 -MONDO:0856287 teratoma with endocrine differentiation NCIT:C188013 MONDO:equivalentTo Teratoma with Endocrine Differentiation MONDO:0002601 -MONDO:0856289 b-cell malignant neoplasm NCIT:C188021 MONDO:equivalentTo B-Cell Malignant Neoplasm MONDO:0004992|MONDO:0004095 -MONDO:0856293 mast cell leukemia with an associated myeloid neoplasm NCIT:C188031 MONDO:equivalentTo Mast Cell Leukemia with an Associated Myeloid Neoplasm MONDO:0020332|MONDO:0020334 -MONDO:0856298 refractory wilms tumor NCIT:C188038 MONDO:equivalentTo Refractory Wilms Tumor MONDO:0006058|MONDO:0036501 -MONDO:0856302 pleural proximal-type epithelioid sarcoma NCIT:C188055 MONDO:equivalentTo Pleural Proximal-Type Epithelioid Sarcoma MONDO:0006294|MONDO:0004244 -MONDO:0856303 lung osteosarcoma NCIT:C188061 MONDO:equivalentTo Lung Osteosarcoma MONDO:0002621|MONDO:0002426 -MONDO:0856304 pleural leiomyosarcoma NCIT:C188063 MONDO:equivalentTo Pleural Leiomyosarcoma MONDO:0006294|MONDO:0005058 -MONDO:0856305 bone malignant peripheral nerve sheath tumor NCIT:C188064 MONDO:equivalentTo Bone Malignant Peripheral Nerve Sheath Tumor MONDO:0021054|MONDO:0017827 -MONDO:0856308 lung secretory carcinoma NCIT:C188068 MONDO:equivalentTo Lung Secretory Carcinoma MONDO:0005138 -MONDO:0856309 prostate alveolar rhabdomyosarcoma NCIT:C188070 MONDO:equivalentTo Prostate Alveolar Rhabdomyosarcoma MONDO:0006389|MONDO:0009994 -MONDO:0856310 retroperitoneal rhabdomyosarcoma NCIT:C188071 MONDO:equivalentTo Retroperitoneal Rhabdomyosarcoma MONDO:0001501|MONDO:0005212 -MONDO:0856312 retroperitoneal malignant peripheral nerve sheath tumor NCIT:C188073 MONDO:equivalentTo Retroperitoneal Malignant Peripheral Nerve Sheath Tumor MONDO:0001501|MONDO:0017827 -MONDO:0856313 rectal epithelioid cell melanoma NCIT:C188079 MONDO:equivalentTo Rectal Epithelioid Cell Melanoma MONDO:0002167|MONDO:0002973 -MONDO:0856316 lung anaplastic large cell lymphoma NCIT:C188082 MONDO:equivalentTo Lung Anaplastic Large Cell Lymphoma MONDO:0020644|MONDO:0020325 -MONDO:0856325 adrenal cortical myxoid carcinoma NCIT:C188182 MONDO:equivalentTo Adrenal Cortical Myxoid Carcinoma MONDO:0006639 -MONDO:0856326 adrenal cortical high grade carcinoma NCIT:C188183 MONDO:equivalentTo Adrenal Cortical High Grade Carcinoma MONDO:0006639 -MONDO:0856327 adrenal cortical melanoma NCIT:C188185 MONDO:equivalentTo Adrenal Cortical Melanoma MONDO:0021312|MONDO:0006320 -MONDO:0856335 neuroendocrine tumor NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor MONDO:0019496 -MONDO:0856336 head and neck neuroendocrine neoplasm NCIT:C188222 MONDO:equivalentTo Head and Neck Neuroendocrine Neoplasm MONDO:0019496|MONDO:0005586 -MONDO:0856338 adrenal gland lipoma NCIT:C188250 MONDO:equivalentTo Adrenal Gland Lipoma MONDO:0021511|MONDO:0005106 -MONDO:0856339 adrenal gland hemangioma NCIT:C188251 MONDO:equivalentTo Adrenal Gland Hemangioma MONDO:0021511|MONDO:0006500 -MONDO:0856340 adrenal gland lymphangioma NCIT:C188252 MONDO:equivalentTo Adrenal Gland Lymphangioma MONDO:0002013|MONDO:0021511 -MONDO:0856341 adrenal gland leiomyoma NCIT:C188253 MONDO:equivalentTo Adrenal Gland Leiomyoma MONDO:0021511|MONDO:0001572 -MONDO:0856343 multiple endocrine neoplasia type 5 NCIT:C188257 MONDO:equivalentTo Multiple Endocrine Neoplasia Type 5 MONDO:0017169 -MONDO:0856349 chronic phase primary myelofibrosis NCIT:C188314 MONDO:equivalentTo Chronic Phase Primary Myelofibrosis MONDO:0009692 -MONDO:0856350 accelerated phase myeloproliferative neoplasm NCIT:C188315 MONDO:equivalentTo Accelerated Phase Myeloproliferative Neoplasm MONDO:0020076 -MONDO:0856351 blast phase myeloproliferative neoplasm NCIT:C188316 MONDO:equivalentTo Blast Phase Myeloproliferative Neoplasm MONDO:0020076 -MONDO:0856357 intraductal hyperplasia NCIT:C26458 MONDO:equivalentTo Intraductal Hyperplasia -MONDO:0856375 reticulosarcoma involving spleen NCIT:C26959 MONDO:equivalentTo Reticulosarcoma Involving Spleen MONDO:0009975 -MONDO:0856376 lymphosarcoma involving spleen NCIT:C26960 MONDO:equivalentTo Lymphosarcoma Involving Spleen MONDO:0004638 -MONDO:0856398 nonpigmented nevus NCIT:C27095 MONDO:equivalentTo Nonpigmented Nevus MONDO:0044794 +MONDO:0853262 glioblastoma by gene expression profile NCIT:C111691 MONDO:equivalentTo Glioblastoma by Gene Expression Profile Classification of glioblastoma into molecular subtypes as defined by gene expression profiling. MONDO:0018177 +MONDO:0853267 thymoma by masaoka-koga stage NCIT:C112006 MONDO:equivalentTo Thymoma by Masaoka-Koga Stage A staging system for thymoma based on the anatomic extent of disease at the time of surgery. MONDO:0006456 +MONDO:0853279 uterine carcinosarcoma, homologous type NCIT:C113238 MONDO:equivalentTo Uterine Carcinosarcoma, Homologous Type A carcinosarcoma of the uterus characterized by the presence of sarcomatous elements that arise from the tissues of the uterus. MONDO:0006485 +MONDO:0853280 uterine carcinosarcoma, heterologous type NCIT:C113239 MONDO:equivalentTo Uterine Carcinosarcoma, Heterologous Type A carcinosarcoma of the uterus characterized by the presence of sarcomatous elements composed of tissues that are not found in the uterus (e.g., bone, cartilage, skeletal muscle). MONDO:0006485 +MONDO:0853284 main duct pancreatic intraductal papillary-mucinous neoplasm NCIT:C113664 MONDO:equivalentTo Main Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm An intraductal papillary-mucinous neoplasm of the pancreas that arises from the main pancreatic duct. MONDO:0004286 +MONDO:0853285 branch duct pancreatic intraductal papillary-mucinous neoplasm NCIT:C113665 MONDO:equivalentTo Branch Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm An intraductal papillary-mucinous neoplasm of the pancreas that arises in one of the branches of the main pancreatic duct. It usually has an indolent behavior. MONDO:0004286 +MONDO:0853286 mixed type pancreatic intraductal papillary-mucinous neoplasm NCIT:C113667 MONDO:equivalentTo Mixed Type Pancreatic Intraductal Papillary-Mucinous Neoplasm An intraductal papillary-mucinous neoplasm of the pancreas that arises primarily from the main pancreatic duct and extends to the branch ducts. MONDO:0004286 +MONDO:0853303 adult undifferentiated high grade pleomorphic sarcoma of bone NCIT:C114782 MONDO:equivalentTo Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone An undifferentiated high grade pleomorphic sarcoma that arises from the bone and occurs during adulthood. MONDO:0002618 +MONDO:0853306 metastatic malignant neoplasm in the soft tissues NCIT:C114831 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Soft Tissues A malignant neoplasm that has spread to the soft tissues from another anatomic site. MONDO:0024880 +MONDO:0853313 adult epithelioid hemangioendothelioma NCIT:C114923 MONDO:equivalentTo Adult Epithelioid Hemangioendothelioma An epithelioid hemangioendothelioma that occurs during adulthood. MONDO:0015523 +MONDO:0853316 central nervous system hodgkin lymphoma NCIT:C114951 MONDO:equivalentTo Central Nervous System Hodgkin Lymphoma A Hodgkin lymphoma that arises from the central nervous system. MONDO:0004952|MONDO:0002571 +MONDO:0853326 adult fibrolamellar carcinoma NCIT:C114992 MONDO:equivalentTo Adult Fibrolamellar Carcinoma Fibrolamellar variant of hepatocellular carcinoma that occurs during adulthood. MONDO:0016216|MONDO:0006210 +MONDO:0853331 hepatocellular carcinoma by bclc stage NCIT:C115132 MONDO:equivalentTo Hepatocellular Carcinoma by BCLC Stage A staging classification system for hepatocellular carcinoma that uses variables related to tumor stage, liver functional status, physical status, and cancer-related symptoms, and links the stages with a treatment algorithm. (HPB (Oxford) 2005; 7(1):35-41) MONDO:0007256 +MONDO:0853337 adult myelodysplastic syndrome NCIT:C115153 MONDO:equivalentTo Adult Myelodysplastic Syndrome Myelodysplastic syndrome that occurs in adulthood. MONDO:0018881 +MONDO:0853343 distal urethral carcinoma NCIT:C115210 MONDO:equivalentTo Distal Urethral Carcinoma A carcinoma that arises from the distal part of the urethra. MONDO:0021327 +MONDO:0853344 familial testicular germ cell tumor NCIT:C115211 MONDO:equivalentTo Familial Testicular Germ Cell Tumor Germ cell tumor that arises from the testis and is diagnosed in at least two relatives. MONDO:0010108 +MONDO:0853348 proximal urethral carcinoma NCIT:C115334 MONDO:equivalentTo Proximal Urethral Carcinoma A carcinoma that arises from the proximal part of the urethra. MONDO:0021327 +MONDO:0853359 invasive bladder urothelial carcinoma associated with urethral carcinoma NCIT:C115966 MONDO:equivalentTo Invasive Bladder Urothelial Carcinoma Associated with Urethral Carcinoma Invasive urothelial carcinoma of the bladder which is associated with the presence of in situ or infiltrating urethral carcinoma. MONDO:0040678 +MONDO:0853386 congenital cystic hygroma NCIT:C116899 MONDO:equivalentTo Congenital Cystic Hygroma A congenital lymphatic malformation usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. MONDO:0009761 +MONDO:0853405 anaplastic plasmacytoma NCIT:C118421 MONDO:equivalentTo Anaplastic Plasmacytoma A plasmacytoma characterized by the presence of malignant plasma cells with anaplastic features. MONDO:0005615|MONDO:0020633 +MONDO:0853427 adult penile carcinoma NCIT:C118820 MONDO:equivalentTo Adult Penile Carcinoma A carcinoma of the penis that occurs during adulthood. MONDO:0006360 +MONDO:0853431 adult salivary gland carcinoma NCIT:C118825 MONDO:equivalentTo Adult Salivary Gland Carcinoma A carcinoma of the salivary gland that occurs during adulthood. MONDO:0000521 +MONDO:0853434 orbital melanoma NCIT:C118828 MONDO:equivalentTo Orbital Melanoma A melanoma that arises from the structures of the orbit. MONDO:0002889|MONDO:0005105 +MONDO:0853464 malignant kidney neoplasm except pelvis NCIT:C120456 MONDO:equivalentTo Malignant Kidney Neoplasm Except Pelvis A malignant neoplasm that affects the renal parenchyma but not the pelvis. MONDO:0002367 +MONDO:0853467 mammary-type myofibroblastoma NCIT:C121181 MONDO:equivalentTo Mammary-Type Myofibroblastoma A benign mesenchymal neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. It is histologically identical to the myofibroblastoma of breast. It usually arises from the subcutaneous tissue and the most common sites of involvement are the inguinal/groin, paratesticular, and vulvovaginal areas. MONDO:0040675 +MONDO:0853473 leiomyosarcoma of deep soft tissue NCIT:C121571 MONDO:equivalentTo Leiomyosarcoma of Deep Soft Tissue A rare leiomyosarcoma that arises from the deep soft tissue in the retroperitoneum or abdominal cavity. MONDO:0018078|MONDO:0005058 +MONDO:0853476 spindle cell/sclerosing rhabdomyosarcoma NCIT:C121654 MONDO:equivalentTo Spindle Cell/Sclerosing Rhabdomyosarcoma An uncommon variant of rhabdomyosarcoma with spindle cell or sclerosing morphology. It affects both children and adults and it is more common in males. MONDO:0005212 +MONDO:0853478 soft tissue angiosarcoma NCIT:C121671 MONDO:equivalentTo Soft Tissue Angiosarcoma An angiosarcoma that arises from the soft tissues, usually in the deep muscles of the lower extremities, retroperitoneum, mediastinum, and mesentery. MONDO:0018078|MONDO:0016982 +MONDO:0853479 conventional schwannoma NCIT:C121677 MONDO:equivalentTo Conventional Schwannoma A common, usually encapsulated benign nerve sheath tumor composed of well-differentiated Schwann cells. MONDO:0002546 +MONDO:0853481 solitary circumscribed neuroma NCIT:C121681 MONDO:equivalentTo Solitary Circumscribed Neuroma A benign peripheral nerve sheath tumor characterized by the presence of Schwann cells, axons, and perineurial fibroblasts. It usually arises from the skin of the head and neck or the oral mucosa. It presents as a solitary and painless nodular mass. MONDO:0002547|MONDO:0000648 +MONDO:0853483 hybrid nerve sheath tumor NCIT:C121686 MONDO:equivalentTo Hybrid Nerve Sheath Tumor A benign nerve sheath tumor characterized by the combination of histologic features seen in schwannomas, neurofibromas, and perineuriomas. MONDO:0002547|MONDO:0000648|MONDO:0021043 +MONDO:0853491 malignant mixed tumor, not otherwise specified NCIT:C121787 MONDO:equivalentTo Malignant Mixed Tumor, Not Otherwise Specified A malignant myoepithelioma characterized by the presence of a minor ductal component. MONDO:0003158|MONDO:0005853 +MONDO:0853492 benign phosphaturic mesenchymal tumor NCIT:C121788 MONDO:equivalentTo Benign Phosphaturic Mesenchymal Tumor A phosphaturic mesenchymal tumor with benign histologic features. It may recur locally but does not metastasize. Complete excision is curative. MONDO:0006368|MONDO:0000654 +MONDO:0853493 malignant phosphaturic mesenchymal tumor NCIT:C121789 MONDO:equivalentTo Malignant Phosphaturic Mesenchymal Tumor A phosphaturic mesenchymal tumor characterized by the presence of nuclear atypia, high mitotic activity, increased cellularity, marked pleomorphism, and necrosis. It usually develops in lesions that have recurred locally and metastasizes to other sites. MONDO:0006368|MONDO:0002927 +MONDO:0853494 sclerosing pecoma NCIT:C121790 MONDO:equivalentTo Sclerosing PEComa A tumor with perivascular epithelioid cell differentiation characterized by the presence of cords of neoplastic cells in a densely collagenous stroma. MONDO:0006359 +MONDO:0853495 undifferentiated soft tissue sarcoma NCIT:C121793 MONDO:equivalentTo Undifferentiated Soft Tissue Sarcoma A term that refers to a heterogeneous group of uncommon soft tissue sarcomas that do not show an identifiable line of differentiation using currently available technologies. This is a diagnosis of exclusion and includes undifferentiated pleomorphic sarcoma (also known as malignant fibrous histiocytoma), undifferentiated spindle cell sarcoma, undifferentiated round cell sarcoma, and undifferentiated epithelioid sarcoma. MONDO:0018078 +MONDO:0853498 osteochondromyxoma NCIT:C121842 MONDO:equivalentTo Osteochondromyxoma A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. It may be a locally destructive neoplasm and has been reported in patients with Carney complex. MONDO:0000631|MONDO:0024470 +MONDO:0853499 subungual exostosis NCIT:C121844 MONDO:equivalentTo Subungual Exostosis A benign tumor that affects the distal phalanx, most often the great toe. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone. Pain and swelling are present. Simple resection is usually curative. MONDO:0024470 +MONDO:0853500 bizarre parosteal osteochondromatous proliferation NCIT:C121845 MONDO:equivalentTo Bizarre Parosteal Osteochondromatous Proliferation A benign lesion that usually affects the proximal small bones of the hands or feet. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by the presence of spindle cells, cartilage, and bone, usually in a disorganized pattern compared to subungual exostosis. Enlarged (bizarre) chondrocytes are present in the cartilage. Swelling with or without pain is present. Recurrences following resection have been reported in approximately half of cases. MONDO:0024470 +MONDO:0853501 intermediate chondrogenic neoplasm NCIT:C121846 MONDO:equivalentTo Intermediate Chondrogenic Neoplasm A locally aggressive or rarely metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. MONDO:0024469 +MONDO:0853502 chondrosarcoma, grade 2 NCIT:C121870 MONDO:equivalentTo Chondrosarcoma, Grade 2 An intermediate-grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma. It is characterized by the presence of increased cellularity and a greater degree of nuclear atypia and hyperchromasia as compared to grade 1 chondrosarcoma. Mitotic activity is present. MONDO:0008977 +MONDO:0853503 chondrosarcoma, grade 3 NCIT:C121871 MONDO:equivalentTo Chondrosarcoma, Grade 3 A high-grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma. It is characterized by the presence of increased cellularity and a greater degree of nuclear atypia, hyperchromasia, and mitotic activity as compared to grade 2 chondrosarcoma. MONDO:0008977 +MONDO:0853504 benign notochordal cell tumor NCIT:C121901 MONDO:equivalentTo Benign Notochordal Cell Tumor An intraosseous benign tumor of notochord origin that arises in the bones of the base of the skull, vertebral bodies, sacrum or coccyx. It contains vacuolated tumor cells without atypia, but lacks myxoid matrix, necrosis, and lobular architecture, which are features that characterize its malignant counterpart, chordoma. Most lesions are incidental findings. MONDO:0002597|MONDO:0000631 +MONDO:0853507 intermediate osteogenic neoplasm NCIT:C121925 MONDO:equivalentTo Intermediate Osteogenic Neoplasm A non-metastasizing, locally aggressive, bone-forming neoplasm. MONDO:0045053 +MONDO:0853508 intermediate bone neoplasm NCIT:C121926 MONDO:equivalentTo Intermediate Bone Neoplasm A locally aggressive or rarely metastasizing neoplasm that arises from the bone. MONDO:0019060 +MONDO:0853510 primary bone non-hodgkin lymphoma NCIT:C121930 MONDO:equivalentTo Primary Bone Non-Hodgkin Lymphoma A non-Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most frequently affected areas. The majority of cases are diffuse large B-cell lymphomas. Most patients present with pain in the affected area. Systemic symptoms are rare. MONDO:0017814|MONDO:0018908 +MONDO:0853512 bone epithelioid hemangioendothelioma NCIT:C121941 MONDO:equivalentTo Bone Epithelioid Hemangioendothelioma A low-grade malignant blood vessel neoplasm arising from the bone. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. MONDO:0024499|MONDO:0002129|MONDO:0015523 +MONDO:0853515 acute lymphoblastic leukemia by gene expression profile NCIT:C121973 MONDO:equivalentTo Acute Lymphoblastic Leukemia by Gene Expression Profile Gene expression-based patient cluster groups in acute lymphoblastic leukemia. MONDO:0004967 +MONDO:0853523 borderline ovarian serous tumor/atypical proliferative ovarian serous tumor NCIT:C122584 MONDO:equivalentTo Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor A non-invasive serous neoplasm that arises from the ovary and shows greater cellular proliferation and cytologic atypia as compared to benign ovarian serous tumors, but less as compared to low-grade ovarian serous carcinoma. MONDO:0020662 +MONDO:0853524 borderline ovarian serous tumor-micropapillary variant/non-invasive low grade ovarian serous carcinoma NCIT:C122585 MONDO:equivalentTo Borderline Ovarian Serous Tumor-Micropapillary Variant/Non-Invasive Low Grade Ovarian Serous Carcinoma A non-invasive serous neoplasm that arises from the ovary and shows micropapillary and/or cribriform architectural patterns. It is composed of round epithelial cells with scant cytoplasm and moderate nuclear atypia. MONDO:0020662 +MONDO:0853525 infant leukemia NCIT:C122603 MONDO:equivalentTo Infant Leukemia An acute lymphoblastic or acute myeloid leukemia that occurs in infancy. MONDO:0004355 +MONDO:0853528 childhood acute myeloid leukemia not otherwise specified NCIT:C122625 MONDO:equivalentTo Childhood Acute Myeloid Leukemia Not Otherwise Specified Acute myeloid leukemias that occur in childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. MONDO:0015667|MONDO:0004996 +MONDO:0853529 hypoplastic myelodysplastic syndrome NCIT:C122686 MONDO:equivalentTo Hypoplastic Myelodysplastic Syndrome Myelodysplastic syndrome characterized by decreased cellularity in the bone marrow. MONDO:0018881 +MONDO:0853530 cytogenetically normal acute myeloid leukemia NCIT:C122687 MONDO:equivalentTo Cytogenetically Normal Acute Myeloid Leukemia Acute myeloid leukemia not associated with cytogenetic abnormalities. MONDO:0018874 +MONDO:0853532 childhood acute myeloid leukemia with abnormalities of chromosome 5q NCIT:C122725 MONDO:equivalentTo Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q A rare acute myeloid leukemia that occurs in childhood and is characterized primarily by deletions of 5q. MONDO:0004996 +MONDO:0853533 childhood acute myeloid leukemia with abnormalities of chromosome 7 NCIT:C122726 MONDO:equivalentTo Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 A rare acute myeloid leukemia that occurs in childhood and is characterized by deletion of chromosome 7. MONDO:0004996 +MONDO:0853659 childhood lymphomatoid granulomatosis NCIT:C123392 MONDO:equivalentTo Childhood Lymphomatoid Granulomatosis Lymphomatoid granulomatosis that occurs during childhood. MONDO:0019466 +MONDO:0853660 childhood langerhans cell histiocytosis with risk organ involvement NCIT:C123395 MONDO:equivalentTo Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement Langerhans cell histiocytosis that occurs during childhood and involves the bone marrow, spleen, liver, or lung. MONDO:0017025 +MONDO:0853661 childhood langerhans cell histiocytosis without risk organ involvement NCIT:C123396 MONDO:equivalentTo Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement Langerhans cell histiocytosis that occurs during childhood and does not involve the bone marrow, spleen, liver, or lung. MONDO:0017025 +MONDO:0853668 fusion-positive rhabdomyosarcoma NCIT:C123735 MONDO:equivalentTo Fusion-Positive Rhabdomyosarcoma A rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion. MONDO:0005212 +MONDO:0853669 fusion-negative rhabdomyosarcoma NCIT:C123736 MONDO:equivalentTo Fusion-Negative Rhabdomyosarcoma A rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion. MONDO:0005212 +MONDO:0853671 refractory malignant germ cell tumor NCIT:C123739 MONDO:equivalentTo Refractory Malignant Germ Cell Tumor Malignant germ cell tumor resistant to treatment. MONDO:0006290|MONDO:0036501 +MONDO:0853673 childhood germinomatous germ cell tumor NCIT:C123838 MONDO:equivalentTo Childhood Germinomatous Germ Cell Tumor A germinomatous germ cell tumor occurring in children. MONDO:0020580|MONDO:0003751 +MONDO:0853675 childhood nongerminomatous germ cell tumor NCIT:C123841 MONDO:equivalentTo Childhood Nongerminomatous Germ Cell Tumor A nongerminomatous germ cell tumor occurring in children. MONDO:0021656|MONDO:0003751 +MONDO:0853680 childhood mixed germ cell tumor NCIT:C123848 MONDO:equivalentTo Childhood Mixed Germ Cell Tumor A mixed germ cell tumor occurring in children. MONDO:0015864|MONDO:0004479|MONDO:0005853 +MONDO:0853693 childhood astrocytoma NCIT:C124275 MONDO:equivalentTo Childhood Astrocytoma An astrocytoma that occurs during childhood. MONDO:0019781|MONDO:0002505 +MONDO:0853694 childhood atypical choroid plexus papilloma NCIT:C124291 MONDO:equivalentTo Childhood Atypical Choroid Plexus Papilloma An atypical choroid plexus papilloma that occurs during childhood. MONDO:0002684|MONDO:0024744 +MONDO:0853721 ovarian adenomatoid tumor NCIT:C126331 MONDO:equivalentTo Ovarian Adenomatoid Tumor A rare benign mesothelial tumor that arises from the ovary. It is characterized by the presence of gland-like structures. MONDO:0004230|MONDO:0000646 +MONDO:0853728 chronic eosinophilic leukemia with fip1l1-pdgfra NCIT:C126351 MONDO:equivalentTo Chronic Eosinophilic Leukemia with FIP1L1-PDGFRA Chronic eosinophilic leukemia characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. MONDO:0015689|MONDO:0001014 +MONDO:0853729 primary peritoneal high grade serous adenocarcinoma NCIT:C126353 MONDO:equivalentTo Primary Peritoneal High Grade Serous Adenocarcinoma A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features. MONDO:0006386 +MONDO:0853730 primary peritoneal low grade serous adenocarcinoma NCIT:C126354 MONDO:equivalentTo Primary Peritoneal Low Grade Serous Adenocarcinoma A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features. MONDO:0006386 +MONDO:0853731 peritoneal desmoplastic small round cell tumor NCIT:C126356 MONDO:equivalentTo Peritoneal Desmoplastic Small Round Cell Tumor A desmoplastic small round cell tumor that occurs in the abdominal and/or pelvic peritoneum. MONDO:0019373|MONDO:0002087 +MONDO:0853732 pelvic fibromatosis NCIT:C126358 MONDO:equivalentTo Pelvic Fibromatosis Fibromatosis that occurs in the pelvis. It affects almost always females. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern. It recurs if incompletely resected but lacks metastatic potential. MONDO:0007608 +MONDO:0853733 abdominal inflammatory myofibroblastic tumor NCIT:C126359 MONDO:equivalentTo Abdominal Inflammatory Myofibroblastic Tumor Inflammatory myofibroblastic tumor that arises from the abdominal cavity. MONDO:0015798 +MONDO:0853734 thyroid gland cribriform morular carcinoma NCIT:C126408 MONDO:equivalentTo Thyroid Gland Cribriform Morular Carcinoma A thyroid gland carcinoma characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. It may occur with familial adenomatous polyposis or sporadically. MONDO:0015075 +MONDO:0853735 thyroid gland papillary carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma NCIT:C126410 MONDO:equivalentTo Thyroid Gland Papillary Carcinoma with Fibromatosis/Fasciitis-Like/Desmoid-Type Stroma A rare morphologic variant of papillary thyroid gland carcinoma characterized by the presence of abundant and cellular stroma resembling nodular fasciitis, fibromatosis, or other proliferative myofibroblastic processes. (WHO) MONDO:0005075 +MONDO:0853736 fallopian tube high grade serous adenocarcinoma NCIT:C126456 MONDO:equivalentTo Fallopian Tube High Grade Serous Adenocarcinoma A rapidly growing serous adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of high grade cytologic features and frequent mitotic figures. MONDO:0006208 +MONDO:0853738 fallopian tube lymphoma NCIT:C126464 MONDO:equivalentTo Fallopian Tube Lymphoma An exceedingly rare lymphoma that arises from the fallopian tube. MONDO:0002158|MONDO:0017207 +MONDO:0853742 broad ligament serous adenocarcinoma NCIT:C126479 MONDO:equivalentTo Broad Ligament Serous Adenocarcinoma A rare serous adenocarcinoma that arises from the broad ligament. MONDO:0002741|MONDO:0005278 +MONDO:0853743 oropharyngeal poorly differentiated carcinoma NCIT:C126750 MONDO:equivalentTo Oropharyngeal Poorly Differentiated Carcinoma A high-grade carcinoma that arises from the oropharynx. It is characterized by the presence of malignant cells which bear minimal resemblance to the cells from which they arose. MONDO:0044704 +MONDO:0853745 endometrial dedifferentiated carcinoma NCIT:C126769 MONDO:equivalentTo Endometrial Dedifferentiated Carcinoma A carcinoma that arises from the endometrium and is characterized by the presence of an undifferentiated carcinomatous component and a second component of either FIGO grade 1 or 2 endometrioid carcinoma. MONDO:0002447 +MONDO:0853748 uterine corpus hydropic leiomyoma NCIT:C126975 MONDO:equivalentTo Uterine Corpus Hydropic Leiomyoma A variant of leiomyoma arising from the uterine corpus. It is characterized by conspicuous zonal edema. Hyalinization may also be present. MONDO:0007886 +MONDO:0853749 uterine corpus high grade endometrial stromal sarcoma NCIT:C126998 MONDO:equivalentTo Uterine Corpus High Grade Endometrial Stromal Sarcoma A rare, high grade sarcoma that arises from the endometrial stroma. It is characterized by round cell morphology. It was previously also known as undifferentiated uterine sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. MONDO:0002923 +MONDO:0853751 benign uterine corpus pecoma NCIT:C127071 MONDO:equivalentTo Benign Uterine Corpus PEComa A benign neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus. It is characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. It usually affects perimenopausal women. Patients present with a pelvic mass or abnormal bleeding. MONDO:0004221|MONDO:0020581|MONDO:0021525 +MONDO:0853753 uterine corpus germ cell tumor NCIT:C127077 MONDO:equivalentTo Uterine Corpus Germ Cell Tumor A benign or malignant germ cell tumor that arises from the uterine corpus. Representative examples include teratoma and yolk sac tumor. MONDO:0021254|MONDO:0018201 +MONDO:0853764 cervical neuroendocrine neoplasm NCIT:C128041 MONDO:equivalentTo Cervical Neuroendocrine Neoplasm A neuroendocrine neoplasm that arises from the cervix. This category includes neuroendocrine tumor grade 1, neuroendocrine tumor grade 2, and neuroendocrine carcinoma (small cell and large cell neuroendocrine carcinoma). MONDO:0019496|MONDO:0021230 +MONDO:0853771 vaginal papillary carcinoma NCIT:C128060 MONDO:equivalentTo Vaginal Papillary Carcinoma A rare squamous cell carcinoma that arises from the vagina resembling transitional cell carcinoma of the urinary tract. MONDO:0002979|MONDO:0006490 +MONDO:0853775 ovarian cancer by figo stage NCIT:C128081 MONDO:equivalentTo Ovarian Cancer by FIGO Stage A category of staging terms for ovarian cancer according to the International Federation of Gynecology and Obstetrics (FIGO), 2014. AJCC ovarian cancer stage terms from the 6th and 7th editions that are synonymous to the FIGO ovarian cancer staging classification of 2014 are included as preferred terms. MONDO:0005140 +MONDO:0853776 ovarian cancer by ajcc v6 and v7 stage NCIT:C128106 MONDO:equivalentTo Ovarian Cancer by AJCC v6 and v7 Stage A category of staging terms for ovarian cancer according to the American Joint Committee on cancer (AJCC) 6th and 7th editions. International Federation of Gynecology and Obstetrics (FIGO) ovarian cancer staging terms prior to 2014 are included in this category if synonymous with the AJCC terms. MONDO:0005140 +MONDO:0853779 vaginal germ cell tumor NCIT:C128112 MONDO:equivalentTo Vaginal Germ Cell Tumor A germ tumor that arises from the vagina. MONDO:0005040|MONDO:0021050 +MONDO:0853781 vulvar squamous intraepithelial lesion, hpv-associated NCIT:C128142 MONDO:equivalentTo Vulvar Squamous Intraepithelial Lesion, HPV-Associated An intraepithelial lesion of the vulvar squamous epithelium associated with HPV infection. It is characterized by maturation abnormalities and nuclear hyperchromasia that are confined to the basement membrane. MONDO:0005198 +MONDO:0853784 vulvar adenocarcinoma of mammary gland type NCIT:C128162 MONDO:equivalentTo Vulvar Adenocarcinoma of Mammary Gland Type A primary invasive malignant epithelial neoplasm of the vulva showing morphological features of recognized breast adenocarcinomas. (WHO, 2014) MONDO:0024336 +MONDO:0853787 vulvar mucinous adenocarcinoma, intestinal-type NCIT:C128166 MONDO:equivalentTo Vulvar Mucinous Adenocarcinoma, Intestinal-Type A rare vulvar mucinous adenocarcinoma that resembles a large intestinal adenocarcinoma. MONDO:0004957|MONDO:0024336|MONDO:0006254 +MONDO:0853788 vulvar keratoacanthoma NCIT:C128167 MONDO:equivalentTo Vulvar Keratoacanthoma A keratoacanthoma that arises from the vulva. It grows rapidly and may regress spontaneously. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. MONDO:0024609|MONDO:0002527 +MONDO:0853797 vulvar germ cell tumor NCIT:C128294 MONDO:equivalentTo Vulvar Germ Cell Tumor A rare germ cell tumor that arises from the vulva. MONDO:0005040|MONDO:0021049 +MONDO:0853835 b acute lymphoblastic leukemia, philadelphia chromosome negative NCIT:C128629 MONDO:equivalentTo B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative A B-acute lymphoblastic leukemia (B-ALL) that does not have the cytogenetic abnormality t(9;22)(q34;q11.2). Most cases of B-ALL do not have this translocation. MONDO:0020511 +MONDO:0853837 nk-cell lymphoma, unclassifiable NCIT:C128697 MONDO:equivalentTo NK-Cell Lymphoma, Unclassifiable A very rare NK-cell lymphoma with pathologic and clinical features posing difficulty in its exact diagnosis and classification. MONDO:0000430 +MONDO:0853840 cutaneous malignant melanoma 2 NCIT:C128801 MONDO:equivalentTo Cutaneous Malignant Melanoma 2 An autosomal dominant genetic disorder caused by mutations in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by cutaneous malignant melanoma associated with this genetic alteration. MONDO:0018961 +MONDO:0853846 glioblastoma, not otherwise specified NCIT:C129295 MONDO:equivalentTo Glioblastoma, Not Otherwise Specified A central nervous system tumor with morphological features of glioblastoma in which there is insufficient information on the IDH genes status. MONDO:0018177 +MONDO:0853849 oligodendroglioma, idh-mutant and 1p/19q-codeleted NCIT:C129318 MONDO:equivalentTo Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted An oligodendroglioma carrying IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). MONDO:0016695 +MONDO:0853850 oligodendroglioma, not otherwise specified NCIT:C129319 MONDO:equivalentTo Oligodendroglioma, Not Otherwise Specified A central nervous system tumor with morphological features of oligodendroglioma in which there is insufficient information on the IDH genes and 1p/19q codeletion status. MONDO:0016695 +MONDO:0853851 anaplastic oligodendroglioma, idh-mutant and 1p/19q-codeleted NCIT:C129321 MONDO:equivalentTo Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted An anaplastic oligodendroglioma carrying IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). MONDO:0016696 +MONDO:0853852 anaplastic oligodendroglioma, not otherwise specified NCIT:C129322 MONDO:equivalentTo Anaplastic Oligodendroglioma, Not Otherwise Specified A central nervous system tumor with morphological features of anaplastic oligodendroglioma in which there is insufficient information on the IDH genes and 1p/19q codeletion status. MONDO:0016696 +MONDO:0853853 oligoastrocytoma, not otherwise specified NCIT:C129323 MONDO:equivalentTo Oligoastrocytoma, Not Otherwise Specified A central nervous system tumor with morphological features of oligoastrocytoma in which there is insufficient information on the IDH genes status. MONDO:0016702 +MONDO:0853854 anaplastic oligoastrocytoma, not otherwise specified NCIT:C129324 MONDO:equivalentTo Anaplastic Oligoastrocytoma, Not Otherwise Specified A central nervous system tumor with morphological features of anaplastic oligoastrocytoma in which there is insufficient information on the IDH genes status. MONDO:0016703 +MONDO:0853855 diffuse glioma NCIT:C129325 MONDO:equivalentTo Diffuse Glioma A glioma that has diffusely infiltrated the surrounding central nervous system tissues. MONDO:0021042 +MONDO:0853856 anaplastic pleomorphic xanthoastrocytoma NCIT:C129327 MONDO:equivalentTo Anaplastic Pleomorphic Xanthoastrocytoma A WHO grade 3 pleomorphic xanthoastrocytoma characterized by the presence of five or more mitoses per 10 high-power fields. Necrosis may be present. Patients have shorter survival rates when compared to those with WHO grade 2 pleomorphic xanthoastrocytoma. MONDO:0019781|MONDO:0021640|MONDO:0020633 +MONDO:0853857 diffuse leptomeningeal glioneuronal tumor NCIT:C129424 MONDO:equivalentTo Diffuse Leptomeningeal Glioneuronal Tumor A relatively slow growing diffuse leptomeningeal neoplasm usually affecting children and adolescents. It is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. A neuronal component may be present. The prognosis is variable. MONDO:0016729 +MONDO:0853858 multinodular and vacuolated neuronal tumor NCIT:C129427 MONDO:equivalentTo Multinodular and Vacuolated Neuronal Tumor A low-grade tumor affecting the cerebral hemispheres. It is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation. MONDO:0016729|MONDO:0021632|MONDO:0021374 +MONDO:0853859 medulloblastoma molecular subtypes NCIT:C129439 MONDO:equivalentTo Medulloblastoma Molecular Subtypes A term that refers to the classification of medulloblastomas according to their molecular characteristics. MONDO:0007959 +MONDO:0853860 medulloblastoma, not otherwise specified NCIT:C129447 MONDO:equivalentTo Medulloblastoma, Not Otherwise Specified A medulloblastoma which has not been further characterized. MONDO:0007959 +MONDO:0853861 small cell adenocarcinoma NCIT:C129449 MONDO:equivalentTo Small Cell Adenocarcinoma An adenocarcinoma composed of small malignant cells. MONDO:0004970 +MONDO:0853862 central nervous system solitary fibrous tumor NCIT:C129526 MONDO:equivalentTo Central Nervous System Solitary Fibrous Tumor A mesenchymal, non-meningothelial neoplasm arising from the central nervous system. It is characterized by a collagenous and low cellularity spindle cell and/or hemangiopericytomatous histopathological pattern, recurrent intrachromosomal rearrangement on chromosome 12q that results in the fusion of the NAB2 and STAT6 genes, high recurrence rates, and long-term risk of systemic metastasis. MONDO:0003244|MONDO:0016238 +MONDO:0853863 central nervous system mesenchymal chondrosarcoma NCIT:C129534 MONDO:equivalentTo Central Nervous System Mesenchymal Chondrosarcoma A mesenchymal chondrosarcoma that arises from the central nervous system. MONDO:0002217|MONDO:0006853 +MONDO:0853864 central nervous system epithelioid hemangioendothelioma NCIT:C129536 MONDO:equivalentTo Central Nervous System Epithelioid Hemangioendothelioma A low-grade malignant blood vessel neoplasm that arises from the central nervous system. It is characterized by the presence of epithelioid endothelial cells. MONDO:0037740|MONDO:0015523 +MONDO:0853865 central nervous system angiolipoma NCIT:C129538 MONDO:equivalentTo Central Nervous System Angiolipoma An angiolipoma that arises from the central nervous system. MONDO:0003844|MONDO:0006085 +MONDO:0853866 central nervous system undifferentiated pleomorphic sarcoma NCIT:C129566 MONDO:equivalentTo Central Nervous System Undifferentiated Pleomorphic Sarcoma A rare undifferentiated pleomorphic sarcoma (formerly known as malignant fibrous histiocytoma) involving the central nervous system. MONDO:0002217|MONDO:0002142 +MONDO:0853868 central nervous system anaplastic large cell lymphoma, alk-positive NCIT:C129598 MONDO:equivalentTo Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Positive An anaplastic large cell lymphoma, ALK-positive, arising from the central nervous system. MONDO:0006128|MONDO:0017602 +MONDO:0853869 central nervous system anaplastic large cell lymphoma, alk-negative NCIT:C129599 MONDO:equivalentTo Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Negative An anaplastic large cell lymphoma, ALK-negative, arising from the central nervous system. MONDO:0006128|MONDO:0017603 +MONDO:0853870 central nervous system intravascular large b-cell lymphoma NCIT:C129602 MONDO:equivalentTo Central Nervous System Intravascular Large B-Cell Lymphoma A rare extranodal B-cell non-Hodgkin lymphoma that affects the central nervous system. It is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. MONDO:0017596|MONDO:0020324 +MONDO:0853881 acute myeloid leukemia with biallelic cebpa mutation NCIT:C129782 MONDO:equivalentTo Acute Myeloid Leukemia with Biallelic CEBPA Mutation An acute myeloid leukemia with double mutations of the CEBPA gene. MONDO:0017894 +MONDO:0853882 acute myeloid leukemia with monoallelic cebpa mutation NCIT:C129783 MONDO:equivalentTo Acute Myeloid Leukemia with Monoallelic CEBPA Mutation An acute myeloid leukemia with single mutations of the CEBPA gene. MONDO:0017894 +MONDO:0853884 b lymphoblastic leukemia/lymphoma, bcr-abl1-like NCIT:C129787 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like B lymphoblastic leukemia/lymphoma characterized by a gene-expression profile similar to that of BCR-ABL1-positive B lymphoblastic leukemia/lymphoma, absence of the pathognomonic BCR-ABL1 rearrangement, alterations of lymphoid transcription factor genes, and a poor outcome. MONDO:0035605 +MONDO:0853887 metastatic transitional cell carcinoma NCIT:C129828 MONDO:equivalentTo Metastatic Transitional Cell Carcinoma A carcinoma that arises from transitional cells and has spread from its original site of growth to another anatomic site. MONDO:0024879|MONDO:0006474 +MONDO:0853888 chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)(q31;p12) NCIT:C129852 MONDO:equivalentTo Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) Chronic myelomonocytic leukemia characterized by the presence of eosinophilia, PDGFRB gene rearrangement, and t(5;12)(q31;p12). MONDO:0015690 +MONDO:0853892 chronic myelomonocytic leukemia-0 NCIT:C130035 MONDO:equivalentTo Chronic Myelomonocytic Leukemia-0 A chronic myelomonocytic leukemia characterized by the presence of less than 5 percent blasts in the bone marrow and less than 2 percent blasts in the peripheral blood. MONDO:0020311 +MONDO:0853893 myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia NCIT:C130037 MONDO:equivalentTo Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia A myelodysplastic syndrome with ring sideroblasts and dysplastic changes involving only one myeloid cell lineage in the bone marrow. MONDO:0019157 +MONDO:0853894 b lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21 NCIT:C130039 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 B lymphoblastic leukemia/lymphoma characterized by amplification of a portion of chromosome 21. It usually occurs in children and is associated with an adverse prognosis. MONDO:0035605 +MONDO:0853943 anastomosing hemangioma NCIT:C131760 MONDO:equivalentTo Anastomosing Hemangioma An unusual variant of capillary hemangioma. It is characterized by a unique anastomosing sinusoidal-like architecture which may mimic angiosarcoma. It was originally described in the kidney but rare cases have been reported in other sites. MONDO:0002407 +MONDO:0853956 acute megakaryoblastic leukemia with cbfa2t3-glis2 NCIT:C132109 MONDO:equivalentTo Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2 A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with CBFA2T3-GLIS2 chimeric oncogene and has an unfavorable prognosis. MONDO:0004996 +MONDO:0853959 small intestinal myeloid sarcoma NCIT:C132260 MONDO:equivalentTo Small Intestinal Myeloid Sarcoma An extramedullary myeloid tumor that arises from the small intestine. It often presents with abdominal pain and obstruction. MONDO:0000956|MONDO:0006861 +MONDO:0853961 atypical pituitary neuroendocrine tumor NCIT:C132296 MONDO:equivalentTo Atypical Pituitary Neuroendocrine Tumor A usually aggressive and invasive pituitary neuroendocrine tumor characterized by excessive p53 immunoreactivity, increased mitotic activity, and MIB-1 proliferative index greater than 3%. MONDO:0006373 +MONDO:0853963 lip and oral cavity cancer by ajcc v8 stage NCIT:C132728 MONDO:equivalentTo Lip and Oral Cavity Cancer by AJCC v8 Stage A term that refers to the staging of lip and oral cavity carcinoma according to the American Joint Committee on Cancer, 8th edition. MONDO:0023644 +MONDO:0853964 lip and oral cavity cancer by ajcc v6 and v7 stage NCIT:C132736 MONDO:equivalentTo Lip and Oral Cavity Cancer by AJCC v6 and v7 Stage A term that refers to the staging of lip and oral cavity carcinoma according to the American Joint Committee on Cancer, 6th and 7th editions. MONDO:0023644 +MONDO:0853965 major salivary gland cancer by ajcc v7 stage NCIT:C132778 MONDO:equivalentTo Major Salivary Gland Cancer by AJCC v7 Stage A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0006284 +MONDO:0853966 major salivary gland cancer by ajcc v8 stage NCIT:C132779 MONDO:equivalentTo Major Salivary Gland Cancer by AJCC v8 Stage A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 8th edition. MONDO:0006284 +MONDO:0853968 pharyngeal carcinoma by ajcc v8 stage NCIT:C132814 MONDO:equivalentTo Pharyngeal Carcinoma by AJCC v8 Stage A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition. MONDO:0021345 +MONDO:0853973 metastatic malignant germ cell tumor NCIT:C132854 MONDO:equivalentTo Metastatic Malignant Germ Cell Tumor A malignant germ cell tumor that has spread from its original site of growth to another anatomic site. MONDO:0024880|MONDO:0006290 +MONDO:0853979 sinonasal cancer by ajcc v8 stage NCIT:C133074 MONDO:equivalentTo Sinonasal Cancer by AJCC v8 Stage A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 8th edition. MONDO:0056819 +MONDO:0853980 lung adenofibroma NCIT:C133091 MONDO:equivalentTo Lung Adenofibroma A very rare benign neoplasm that arises from the lung. It is characterized by the presence of a stromal and an epithelial component. It resembles the adenofibromas that arise from the organs of the female reproductive system. MONDO:0021043|MONDO:0002732 +MONDO:0853981 laryngeal cancer by ajcc v8 stage NCIT:C133156 MONDO:equivalentTo Laryngeal Cancer by AJCC v8 Stage A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 8th edition. MONDO:0002358 +MONDO:0853984 cutaneous squamous cell carcinoma of the head and neck NCIT:C133252 MONDO:equivalentTo Cutaneous Squamous Cell Carcinoma of the Head and Neck A squamous cell carcinoma that arises from the skin of the head and neck. MONDO:0010150|MONDO:0002529 +MONDO:0853986 esophageal cancer by ajcc v8 stage NCIT:C133399 MONDO:equivalentTo Esophageal Cancer by AJCC v8 Stage A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 8th edition. MONDO:0019086 +MONDO:0853991 gastroesophageal junction adenocarcinoma by ajcc v8 stage NCIT:C133548 MONDO:equivalentTo Gastroesophageal Junction Adenocarcinoma by AJCC v8 Stage A term that refers to the staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition. MONDO:0003219 +MONDO:0853993 gastric cancer by ajcc v8 stage NCIT:C133638 MONDO:equivalentTo Gastric Cancer by AJCC v8 Stage A term that refers to the staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition. MONDO:0004950 +MONDO:0853994 small intestinal cancer by ajcc v7 stage NCIT:C133716 MONDO:equivalentTo Small Intestinal Cancer by AJCC v7 Stage A term that refers to the staging of small intestinal cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0005522 +MONDO:0853996 appendix carcinoma by ajcc v7 stage NCIT:C133733 MONDO:equivalentTo Appendix Carcinoma by AJCC v7 Stage A term that refers to the staging of appendiceal carcinoma according to the American Joint Committee on Cancer, 7th edition. Carcinoid tumors are staged separately. (from AJCC 7th Ed.) MONDO:0003196 +MONDO:0853997 anal canal cancer by ajcc v6 and v7 stage NCIT:C133787 MONDO:equivalentTo Anal Canal Cancer by AJCC v6 and v7 Stage A term that refers to the staging of anal canal cancer according to the American Joint Committee on Cancer, 6th and 7th editions. This staging system applies to carcinomas arising in the anal canal only; melanomas, carcinoid tumors, sarcomas, and perianal tumors are not included. (from AJCC 6th and 7th Eds.) MONDO:0007108 +MONDO:0853998 anal cancer by ajcc v8 stage NCIT:C133794 MONDO:equivalentTo Anal Cancer by AJCC v8 Stage A term that refers to the staging of anal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas arising in the anal canal, including carcinomas that arise within anorectal fistulas and those arising in the perianal area (anal margin). High-grade neuroendocrine carcinomas (small cell neuroendocrine carcinoma and large cell neuroendocrine carcinoma) are staged using this system. There is no AJCC staging system for anal mucosal melanomas and anal well-differentiated neuroendocrine tumors. (from AJCC 8th Ed.) MONDO:0003199 +MONDO:0854000 small intestinal adenocarcinoma by ajcc v8 stage NCIT:C133893 MONDO:equivalentTo Small Intestinal Adenocarcinoma by AJCC v8 Stage A term that refers to the staging of small intestinal adenocarcinoma according to the American Joint Committee on Cancer, 8th edition. Nonadenocarcinomas arising in the small intestine should have a TNM assigned but are not assigned a stage classification. (from AJCC 8th Ed.) MONDO:0003198 +MONDO:0854002 appendix carcinoma by ajcc v8 stage NCIT:C134117 MONDO:equivalentTo Appendix Carcinoma by AJCC v8 Stage A term that refers to the staging of appendiceal carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas of the appendix, including high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and goblet cell carcinoids. Well-differentiated neuroendocrine tumors (carcinoids) are staged according to the classification for neuroendocrine tumors of the appendix. (from AJCC 8th Ed.) MONDO:0003196 +MONDO:0854009 colorectal cancer by ajcc v8 stage NCIT:C134180 MONDO:equivalentTo Colorectal Cancer by AJCC v8 Stage A term that refers to the staging of colorectal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas, high-grade neuroendocrine carcinomas, and squamous cell carcinomas of the colon and rectum. Appendiceal carcinomas, anal carcinomas, and well-differentiated neuroendocrine tumors (carcinoids) are not covered by this staging system. (from AJCC 8th Ed.) MONDO:0024331 +MONDO:0854013 intrahepatic cholangiocarcinoma by ajcc v7 stage NCIT:C134514 MONDO:equivalentTo Intrahepatic Cholangiocarcinoma by AJCC v7 Stage A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0003210 +MONDO:0854014 hepatocellular carcinoma by ajcc v8 stage NCIT:C134515 MONDO:equivalentTo Hepatocellular Carcinoma by AJCC v8 Stage A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to hepatocellular carcinomas and fibrolamellar carcinomas (fibrolamellar variant of hepatocellular carcinoma). Intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas, and sarcomas of the liver are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0007256 +MONDO:0854017 intrahepatic bile duct cancer by ajcc v8 stage NCIT:C134604 MONDO:equivalentTo Intrahepatic Bile Duct Cancer by AJCC v8 Stage A term that refers to the staging of intrahepatic bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas (mixed hepatocholangiocarcinomas), and primary neuroendocrine tumors of the liver. Primary sarcomas of the liver, pure hepatocellular carcinomas, hilar cholangiocarcinomas, and gallbladder carcinomas are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0018531 +MONDO:0854018 gallbladder cancer by ajcc v8 stage NCIT:C134660 MONDO:equivalentTo Gallbladder Cancer by AJCC v8 Stage A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to gallbladder carcinomas. Well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0003220 +MONDO:0854019 hilar cholangiocarcinoma by ajcc v7 stage NCIT:C134742 MONDO:equivalentTo Hilar Cholangiocarcinoma by AJCC v7 Stage A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0003345 +MONDO:0854020 hilar cholangiocarcinoma by ajcc v8 stage NCIT:C134743 MONDO:equivalentTo Hilar Cholangiocarcinoma by AJCC v8 Stage A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0003345 +MONDO:0854022 distal bile duct cancer by ajcc v7 stage NCIT:C134810 MONDO:equivalentTo Distal Bile Duct Cancer by AJCC v7 Stage A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0003707 +MONDO:0854023 distal bile duct cancer by ajcc v8 stage NCIT:C134811 MONDO:equivalentTo Distal Bile Duct Cancer by AJCC v8 Stage A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0003707 +MONDO:0854024 ampulla of vater cancer by ajcc v7 stage NCIT:C134863 MONDO:equivalentTo Ampulla of Vater Cancer by AJCC v7 Stage A term that refers to the staging of ampulla of Vater cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0017590 +MONDO:0854025 ampulla of vater cancer by ajcc v8 stage NCIT:C134864 MONDO:equivalentTo Ampulla of Vater Cancer by AJCC v8 Stage A term that refers to the staging of ampulla of Vater cancer according to the American Joint Committee on Cancer, 8th edition. This staging system does not apply to well-differentiated neuroendocrine (carcinoid) tumors but does apply to high-grade neuroendocrine carcinomas, such as small cell carcinoma and large cell neuroendocrine carcinoma. (from AJCC 8th Ed.) MONDO:0017590 +MONDO:0854026 pancreatic cancer by ajcc v6 and v7 stage NCIT:C134902 MONDO:equivalentTo Pancreatic Cancer by AJCC v6 and v7 Stage A term that refers to the staging of exocrine and endocrine pancreatic cancer including well-differentiated neuroendocrine tumors according to the American Joint Committee on Cancer, 6th and 7th editions. MONDO:0005192 +MONDO:0854027 pancreatic cancer by ajcc v8 stage NCIT:C134909 MONDO:equivalentTo Pancreatic Cancer by AJCC v8 Stage A term that refers to the staging of exocrine pancreatic cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to pancreatic ductal adenocarcinoma, acinar cell carcinoma, intraductal papillary mucinous neoplasm with associated invasive carcinoma, intraductal tubulopapillary neoplasm with associated invasive carcinoma, colloid carcinoma, mucinous cystic neoplasm with associated invasive carcinoma, solid pseudopapillary neoplasm, large cell neuroendocrine carcinoma, small cell neuroendocrine carcinoma, and pancreatoblastoma. Well-differentiated neuroendocrine tumors are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0005192 +MONDO:0854029 lung non-squamous non-small cell carcinoma NCIT:C135017 MONDO:equivalentTo Lung Non-Squamous Non-Small Cell Carcinoma A non-small cell lung carcinoma without evidence of squamous differentiation. MONDO:0005233 +MONDO:0854030 gastric neuroendocrine tumor by ajcc v8 stage NCIT:C135045 MONDO:equivalentTo Gastric Neuroendocrine Tumor by AJCC v8 Stage "A term that refers to the staging of a gastric neuroendocrine tumor according to the American Joint Committee on Cancer, 8th edition. This staging system applies to gastric ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3). Gastric high-grade neuroendocrine carcinoma and gastric mixed adenoneuroendocrine carcinoma are not included in this staging system. (from AJCC 8th Ed.)" MONDO:0015062 +MONDO:0854031 duodenal neuroendocrine tumor by ajcc v8 stage NCIT:C135075 MONDO:equivalentTo Duodenal Neuroendocrine Tumor by AJCC v8 Stage A term that refers to the staging of a duodenal neuroendocrine tumor according to the American Joint Committee on Cancer, 8th edition. This staging system applies to well-differentiated neuroendocrine tumors of the duodenum. Carcinomas of the duodenum, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not included in this staging system. (from AJCC 8th Ed.) MONDO:0015063 +MONDO:0854032 jejunal neuroendocrine tumor by ajcc v8 stage NCIT:C135119 MONDO:equivalentTo Jejunal Neuroendocrine Tumor by AJCC v8 Stage "A term that refers to the staging of a jejunal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to small bowel ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3) arising in the jejunum. This classification system does not apply to high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and neuroendocrine tumors of the duodenum. (from AJCC 8th Ed.)" MONDO:0015064 +MONDO:0854033 ileal neuroendocrine tumor by ajcc v8 stage NCIT:C135124 MONDO:equivalentTo Ileal Neuroendocrine Tumor by AJCC v8 Stage "A term that refers to the staging of an ileal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to small bowel ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3) arising in the ileum. This classification system does not apply to high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and neuroendocrine tumors of the duodenum. (from AJCC 8th Ed.)" MONDO:0015065 +MONDO:0854034 digestive system neuroendocrine tumor by ajcc v7 stage NCIT:C135129 MONDO:equivalentTo Digestive System Neuroendocrine Tumor by AJCC v7 Stage A term that refers to the staging of a digestive system neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system. MONDO:0000386 +MONDO:0854036 appendix neuroendocrine tumor by ajcc v8 stage NCIT:C135156 MONDO:equivalentTo Appendix Neuroendocrine Tumor by AJCC v8 Stage A term that refers to the staging of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to appendiceal NETs (carcinoid tumors) (NET G1 and G2, and rare well-differentiated G3). High-grade neuroendocrine carcinomas (NEC), goblet cell carcinoids, mixed adenocarcinomas, and adenocarcinomas of the appendix are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0015066 +MONDO:0854042 pancreatic neuroendocrine tumor by ajcc v8 stage NCIT:C135560 MONDO:equivalentTo Pancreatic Neuroendocrine Tumor by AJCC v8 Stage A term that refers to the staging of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to well-differentiated neuroendocrine tumors arising in the pancreas. Carcinomas of the pancreas, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0019954 +MONDO:0854043 thymic epithelial neoplasm by ajcc v8 stage NCIT:C136320 MONDO:equivalentTo Thymic Epithelial Neoplasm by AJCC v8 Stage A term that refers to the staging of a thymic epithelial neoplasm, following the rules of the TNM AJCC v8 classification system. This staging system applies to thymomas, thymic carcinomas, thymic neuroendocrine tumors, and combined thymic carcinomas. (from AJCC 8th Ed.) MONDO:0018079 +MONDO:0854045 pleural malignant mesothelioma by ajcc v7 stage NCIT:C136374 MONDO:equivalentTo Pleural Malignant Mesothelioma by AJCC v7 Stage A term that refers to the staging of pleural malignant mesothelioma, following the rules of the TNM AJCC v7 classification system. MONDO:0005112 +MONDO:0854046 pleural malignant mesothelioma by ajcc v8 stage NCIT:C136399 MONDO:equivalentTo Pleural Malignant Mesothelioma by AJCC v8 Stage A term that refers to the staging of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system. This staging system applies to pleural diffuse malignant mesothelioma only. Localized pleural malignant mesotheliomas and other primary tumors of the pleura are not staged using this staging system. (from AJCC 8th Ed.) MONDO:0005112 +MONDO:0854048 lung cancer by ajcc v8 stage NCIT:C136467 MONDO:equivalentTo Lung Cancer by AJCC v8 Stage A term that refers to the staging of lung cancer, following the rules of the TNM AJCC v8 classification system. This staging system derives from analyses of the new retrospective and prospective databases of the International Association for the Study of Lung Cancer (IASLC). These databases contain information on patients diagnosed with lung cancer from 1999 to 2010 originating from 35 different databases in 16 countries around the world. This staging system applies to carcinomas of the lung, including non-small cell and small cell carcinomas, and bronchopulmonary carcinoid tumors. It does not apply to sarcomas or other rare tumors of the lung. (from AJCC 8th Ed.) MONDO:0005138 +MONDO:0854057 bone cancer by ajcc v7 stage NCIT:C136610 MONDO:equivalentTo Bone Cancer by AJCC v7 Stage A term that refers to the staging of bone cancer, following the rules of the TNM AJCC v7 classification system. MONDO:0002129 +MONDO:0854058 bone cancer by ajcc v8 stage NCIT:C136612 MONDO:equivalentTo Bone Cancer by AJCC v8 Stage A term that refers to the staging of appendicular skeleton, trunk, skull, and facial bones cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to osteosarcoma, chondrosarcoma, Ewing sarcoma, spindle cell sarcoma, hemangioendothelioma, angiosarcoma, fibrosarcoma/myofibroid sarcoma, chordoma, adamantinoma, and other cancers arising in the bone. It does not apply to primary malignant lymphoma of the bone and multiple myeloma. There are no AJCC prognostic stage groupings for spine and pelvis. (from AJCC 8th Ed.) MONDO:0002129 +MONDO:0854060 soft tissue sarcoma by ajcc v8 stage NCIT:C136693 MONDO:equivalentTo Soft Tissue Sarcoma by AJCC v8 Stage A term that refers to the staging of soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system. MONDO:0018078 +MONDO:0854061 soft tissue sarcoma by ajcc v7 stage NCIT:C136707 MONDO:equivalentTo Soft Tissue Sarcoma by AJCC v7 Stage A term that refers to the staging of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system. MONDO:0018078 +MONDO:0854062 uterine corpus sarcoma by ajcc v7 stage NCIT:C136708 MONDO:equivalentTo Uterine Corpus Sarcoma by AJCC v7 Stage A term that refers to the staging of uterine corpus sarcoma, following the rules of the TNM AJCC v7 classification system. MONDO:0005210 +MONDO:0854063 invasive lung mucinous adenocarcinoma NCIT:C136709 MONDO:equivalentTo Invasive Lung Mucinous Adenocarcinoma An invasive adenocarcinoma that arises from the lung. It is characterized by the presence of tall columnar cells and mucin production. This category refers to cases formerly classified as mucinous bronchioloalveolar carcinoma, excluding cases that meet the criteria for adenocarcinoma in situ or mucinous minimally invasive adenocarcinoma. MONDO:0040677|MONDO:0005061|MONDO:0004957 +MONDO:0854064 lung enteric adenocarcinoma NCIT:C136710 MONDO:equivalentTo Lung Enteric Adenocarcinoma A well-differentiated adenocarcinoma located in the lung periphery. It resembles colorectal adenocarcinoma with acinar and/or cribriform architecture and papillotubular structures. MONDO:0006254|MONDO:0005061 +MONDO:0854065 lung keratinizing squamous cell carcinoma NCIT:C136713 MONDO:equivalentTo Lung Keratinizing Squamous Cell Carcinoma A squamous cell lung carcinoma characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. MONDO:0005097 +MONDO:0854066 lung non-keratinizing squamous cell carcinoma NCIT:C136714 MONDO:equivalentTo Lung Non-Keratinizing Squamous Cell Carcinoma A squamous cell lung carcinoma characterized by the absence of keratinization, pearl formation, and intercellular bridges. MONDO:0005097 +MONDO:0854067 lung non-mucinous adenocarcinoma in situ NCIT:C136716 MONDO:equivalentTo Lung Non-Mucinous Adenocarcinoma In Situ Lung adenocarcinoma in situ characterized by the presence of type II pneumocyte and/or Clara cell differentiation. Almost all cases of lung adenocarcinoma in situ are non-mucinous. MONDO:0000503 +MONDO:0854068 lung mucinous adenocarcinoma in situ NCIT:C136717 MONDO:equivalentTo Lung Mucinous Adenocarcinoma In Situ A very rare lung adenocarcinoma in situ variant characterized by the presence of tall columnar cells with basal nuclei and abundant cytoplasmic mucin. MONDO:0000503 +MONDO:0854069 lung squamous cell carcinoma in situ NCIT:C136719 MONDO:equivalentTo Lung Squamous Cell Carcinoma In Situ A preinvasive bronchial neoplastic lesion affecting the squamous epithelium. It is characterized by the absence of progression of maturation from base to luminal surface, basilar zone expansion with cellular crowding throughout the epithelium, absence of the intermediate zone, and surface flattening confined to the most superficial cells. The nuclear-to-cytoplasmic ratio is often high and variable, the chromatin is coarse and uneven, and mitotic figures are present through full thickness. The cell size may be markedly increased. Anisocytosis and pleomorphism may be present. (Adapted from WHO, 2015) MONDO:0005097|MONDO:0004693 +MONDO:0854075 cutaneous melanoma by ajcc v8 stage NCIT:C137645 MONDO:equivalentTo Cutaneous Melanoma by AJCC v8 Stage A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system. This staging system does not apply to melanoma of the conjunctiva, melanoma of the uvea, mucosal melanoma arising in the head and neck, and mucosal melanoma of the urethra, vagina, rectum, and anus. (from AJCC 8th Ed.) MONDO:0005012 +MONDO:0854076 occult breast carcinoma NCIT:C137674 MONDO:equivalentTo Occult Breast Carcinoma Breast carcinoma presenting with isolated axillary lymphadenopathy, without clinical or mammographic evidence of breast tumor. MONDO:0004989 +MONDO:0854077 breast pleomorphic lobular carcinoma in situ NCIT:C137839 MONDO:equivalentTo Breast Pleomorphic Lobular Carcinoma In Situ Breast lobular carcinoma in situ characterized by the presence of neoplastic large cells with marked nuclear pleomorphism. MONDO:0006270 +MONDO:0854089 prostate carcinoma by gene expression profile NCIT:C138167 MONDO:equivalentTo Prostate Carcinoma by Gene Expression Profile A header term that includes the following prostate carcinoma subtypes determined by gene expression profiling: luminal A prostate carcinoma, luminal B prostate carcinoma, and basal-like prostate carcinoma. MONDO:0005159 +MONDO:0854090 duodenal-type follicular lymphoma NCIT:C138185 MONDO:equivalentTo Duodenal-Type Follicular Lymphoma A localized low-grade follicular lymphoma within the gastrointestinal tract, which is distinct from other gastrointestinal tract follicular lymphomas. It has features that overlap with in situ follicular neoplasia as well as some features resembling an extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue. The prognosis is excellent. MONDO:0018906 +MONDO:0854092 high grade b-cell lymphoma with myc and bcl2 and/or bcl6 rearrangements NCIT:C138195 MONDO:equivalentTo High Grade B-Cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements High-grade B-cell lymphoma characterized by the abnormal rearrangement of MYC gene, BCL2 gene, and/or BCL6 gene. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis. MONDO:0044889 +MONDO:0854094 double-expressor lymphoma NCIT:C138899 MONDO:equivalentTo Double-Expressor Lymphoma A diffuse large B-cell lymphoma characterized by double expression of MYC and BCL2 proteins without MYC and BCL2 gene aberrations. These lymphomas may have a worse prognosis than other diffuse large B-cell lymphomas, not otherwise specified, but they are not as aggressive as the high-grade B-cell lymphomas, with rearrangements of MYC and BCL2 and/or BCL6 genes. MONDO:0018905 +MONDO:0854097 follicular helper t-cell lymphoma NCIT:C139005 MONDO:equivalentTo Follicular Helper T-Cell Lymphoma A group of node-based peripheral T-cell lymphomas with phenotypic features of T follicular helper (TFH) cells. This category includes the following: follicular helper T-cell lymphoma, angioimmunoblastic-type; follicular helper T-cell lymphoma, follicular-type; and follicular helper T-cell lymphoma, not otherwise specified. MONDO:0000430 +MONDO:0854098 multiple myeloma myeloma by ds stage NCIT:C139008 MONDO:equivalentTo Multiple Myeloma Myeloma by DS Stage A header term that refers to the staging of multiple myeloma according to the Durie/Salmon staging system. MONDO:0009693 +MONDO:0854099 multiple myeloma by iss stage NCIT:C139009 MONDO:equivalentTo Multiple Myeloma by ISS Stage A header term that refers to the staging of multiple myeloma according to the International Staging System. MONDO:0009693 +MONDO:0854100 type d lymphomatoid papulosis NCIT:C139014 MONDO:equivalentTo Type D Lymphomatoid Papulosis A variant of lymphomatoid papulosis which mimics primary cutaneous aggressive epidermotropic CD8-positive cytotoxic T-cell lymphoma. MONDO:0020326 +MONDO:0854101 type e lymphomatoid papulosis NCIT:C139015 MONDO:equivalentTo Type E Lymphomatoid Papulosis A variant of lymphomatoid papulosis characterized by the presence of atypical lymphocytes which exhibited distinct angioinvasion. MONDO:0020326 +MONDO:0854102 lymphomatoid papulosis with dusp22-irf4 gene rearrangement NCIT:C139017 MONDO:equivalentTo Lymphomatoid Papulosis with DUSP22-IRF4 Gene Rearrangement A variant of lymphomatoid papulosis associated with chromosomal rearrangements involving the DUSP22-IRF4 locus at 6p25.3. MONDO:0020326 +MONDO:0854105 breast cancer by ajcc v8 stage NCIT:C139532 MONDO:equivalentTo Breast Cancer by AJCC v8 Stage A term that refers to the staging of breast cancer, following the rules of the TNM AJCC v8 classification system. It applies to invasive (infiltrating) carcinoma of the breast and ductal carcinoma in situ of the breast. It does not apply to breast sarcoma, phyllodes tumor, and breast lymphoma. (from AJCC 8th Ed.) MONDO:0004989 +MONDO:0854108 fibroadenoma of anogenital mammary-type glands NCIT:C139547 MONDO:equivalentTo Fibroadenoma of Anogenital Mammary-Type Glands A benign epithelial-stromal neoplasm that arises from the perineum and resembles the breast fibroadenoma. MONDO:0000383|MONDO:0021045 +MONDO:0854109 vulvar composite hidradenoma papilliferum and fibroadenoma NCIT:C139548 MONDO:equivalentTo Vulvar Composite Hidradenoma Papilliferum and Fibroadenoma A benign composite neoplasm that arises from the vulva and is characterized by mixed histopathologic features of hidradenoma papilliferum and fibroadenoma. MONDO:0021043|MONDO:0000643 +MONDO:0854111 vulvar cancer by ajcc v8 stage NCIT:C139618 MONDO:equivalentTo Vulvar Cancer by AJCC v8 Stage A term that refers to the staging of vulvar cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vulva. Melanoma of the vulva is staged according to the classification for melanoma of the skin. (AJCC 8th Ed.) MONDO:0005215 +MONDO:0854112 vaginal cancer by ajcc v8 stage NCIT:C139657 MONDO:equivalentTo Vaginal Cancer by AJCC v8 Stage A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.) MONDO:0015867 +MONDO:0854113 cervical cancer by ajcc v8 stage NCIT:C139733 MONDO:equivalentTo Cervical Cancer by AJCC v8 Stage A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 8th edition. MONDO:0005131 +MONDO:0854114 uterine corpus cancer by ajcc v8 stage NCIT:C139801 MONDO:equivalentTo Uterine Corpus Cancer by AJCC v8 Stage A term that refers to the staging of uterine corpus cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas and carcinosarcomas. It does not apply to uterine corpus sarcomas: leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas. These sarcomas are staged according to the classification for uterine corpus sarcomas. (from AJCC 8th Ed.) MONDO:0006003 +MONDO:0854115 uterine corpus sarcoma by ajcc v8 stage NCIT:C139869 MONDO:equivalentTo Uterine Corpus Sarcoma by AJCC v8 Stage A term that refers to the staging of uterine corpus sarcoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas of the uterine corpus. It does not apply to carcinosarcomas which are staged according to the carcinomas and carcinosarcomas of the uterine corpus. (from AJCC 8th Ed.) MONDO:0005210 +MONDO:0854119 ovarian cancer by ajcc v8 stage NCIT:C139963 MONDO:equivalentTo Ovarian Cancer by AJCC v8 Stage A term that refers to the staging of ovarian cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to ovarian carcinomas. Nonepithelial primary ovarian cancers may be staged using this classification but should be reported separately. (from AJCC 8th Ed.) MONDO:0005140 +MONDO:0854120 fallopian tube cancer by ajcc v8 stage NCIT:C139983 MONDO:equivalentTo Fallopian Tube Cancer by AJCC v8 Stage A term that refers to the staging of fallopian tube cancer according to the American Joint Committee on Cancer, 8th edition. MONDO:0006206 +MONDO:0854121 primary peritoneal cancer by ajcc v7 stage NCIT:C140003 MONDO:equivalentTo Primary Peritoneal Cancer by AJCC v7 Stage A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0015686 +MONDO:0854122 primary peritoneal cancer by ajcc v8 stage NCIT:C140004 MONDO:equivalentTo Primary Peritoneal Cancer by AJCC v8 Stage A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 8th edition. MONDO:0015686 +MONDO:0854123 gestational trophoblastic tumor by ajcc v7 stage NCIT:C140032 MONDO:equivalentTo Gestational Trophoblastic Tumor by AJCC v7 Stage A term that refers to the staging of gestational trophoblastic tumor according to the American Joint Committee on Cancer, 7th edition. MONDO:0018944 +MONDO:0854124 penile cancer by ajcc v8 stage NCIT:C140075 MONDO:equivalentTo Penile Cancer by AJCC v8 Stage A term that refers to the staging of penile cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to penile squamous cell carcinoma and associated histologic subtypes. It does not apply to urethral carcinomas, sarcomas, and melanomas. (from AJCC 8th Ed.) MONDO:0006360 +MONDO:0854125 prostate cancer by ajcc v8 stage NCIT:C140163 MONDO:equivalentTo Prostate Cancer by AJCC v8 Stage A term that refers to the staging of prostate cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas and squamous cell carcinomas of the prostate gland. It does not apply to sarcomas, urothelial cell carcinomas, and urothelial carcinoma of bladder involving prostate. (from AJCC 8th Ed.) MONDO:0005159 +MONDO:0854126 testicular cancer by ajcc v8 stage NCIT:C140225 MONDO:equivalentTo Testicular Cancer by AJCC v8 Stage A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to postpubertal germ cell tumors of the testis and malignant sex cord-stromal tumors of the testis. It does not apply to spermatocytic tumors (no AJCC staging system), nonmalignant sex cord-/gonadal -stromal tumors (no AJCC staging system), prepubertal germ cell tumors (no AJCC staging system), hematolymphoid tumors (hematologic malignancies staging system), and paratesticular neoplasms (no AJCC staging system). (from AJCC 8th Ed.) MONDO:0005447 +MONDO:0854127 testicular cancer by ajcc v6 and v7 stage NCIT:C140241 MONDO:equivalentTo Testicular Cancer by AJCC v6 and v7 Stage A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions. MONDO:0005447 +MONDO:0854128 renal cell cancer by ajcc v8 stage NCIT:C140322 MONDO:equivalentTo Renal Cell Cancer by AJCC v8 Stage A term that refers to the staging of kidney cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas arising in the kidney. It does not apply to urothelial carcinomas (are staged according to the classification for renal pelvis and ureter), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs), and Wilms tumor (no AJCC staging system). (from AJCC 8th Ed.) MONDO:0005549 +MONDO:0854130 renal pelvis and ureter cancer by ajcc v8 stage NCIT:C140355 MONDO:equivalentTo Renal Pelvis and Ureter Cancer by AJCC v8 Stage A term that refers to the staging of renal pelvis and ureter cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to renal pelvis and ureter urothelial (transitional cell) carcinoma, including histologic variants micropapillary and nested subtypes. It does not apply to renal cell carcinomas (are staged according to the classification for kidney), renal medullary carcinomas (are staged according to the classification for kidney), collecting duct carcinomas (are staged according to the classification for kidney), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and mesenchymal tumors (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.) MONDO:0020654 +MONDO:0854134 renal pelvis and ureter cancer by ajcc v7 stage NCIT:C140376 MONDO:equivalentTo Renal Pelvis and Ureter Cancer by AJCC v7 Stage A term that refers to the staging of renal pelvis and ureter cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0020654 +MONDO:0854137 bladder cancer by ajcc v8 stage NCIT:C140416 MONDO:equivalentTo Bladder Cancer by AJCC v8 Stage A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas arising in the bladder. The typical carcinoma of the bladder is urothelial carcinoma. These carcinomas may include other histologic elements, including adenocarcinoma, squamous cell carcinoma, and small cell neuroendocrine carcinoma, but should be classified as urothelial unless the cancer is composed entirely of the alternative histology. All histologic cell types that are derived primarily from the urinary bladder epithelium should follow this staging system. It does not apply to prostatic urothelial carcinomas (are staged according to the classification for urethra), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.) MONDO:0004986 +MONDO:0854139 urethral cancer by ajcc v8 stage NCIT:C140457 MONDO:equivalentTo Urethral Cancer by AJCC v8 Stage A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to urothelial (transitional cell), squamous, and glandular carcinomas of the urethra and to urothelial (transitional cell) carcinomas of the prostate and prostatic urethra. It does not apply to squamous cell carcinomas of the penile foreskin (are staged according to the classification for penis), primary urothelial carcinomas of the bladder with transmural involvement of the prostate (are staged according to the classification for urinary bladder), prostatic adenocarcinomas (are staged according to the classification for prostate), mucosal melanomas of the urethra (no AJCC staging system), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.) MONDO:0021327 +MONDO:0854141 urethral cancer by ajcc v7 stage NCIT:C140464 MONDO:equivalentTo Urethral Cancer by AJCC v7 Stage A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0021327 +MONDO:0854142 eyelid carcinoma by ajcc v7 stage NCIT:C140511 MONDO:equivalentTo Eyelid Carcinoma by AJCC v7 Stage A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0003876 +MONDO:0854143 eyelid carcinoma by ajcc v8 stage NCIT:C140513 MONDO:equivalentTo Eyelid Carcinoma by AJCC v8 Stage A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin). (from AJCC 8th Ed.) MONDO:0003876 +MONDO:0854144 choroidal and ciliary body melanoma by ajcc v8 stage NCIT:C140659 MONDO:equivalentTo Choroidal and Ciliary Body Melanoma by AJCC v8 Stage A term that refers to the staging of choroidal and ciliary body melanoma, following the rules of the TNM AJCC v8 classification system. MONDO:0006486 +MONDO:0854145 uveal melanoma by ajcc v7 stage NCIT:C140672 MONDO:equivalentTo Uveal Melanoma by AJCC v7 Stage A term that refers to the staging of uveal melanoma, following the rules of the TNM AJCC v7 classification system. MONDO:0006486 +MONDO:0854146 retinoblastoma by ajcc v8 stage NCIT:C140750 MONDO:equivalentTo Retinoblastoma by AJCC v8 Stage "A term that refers to the staging of retinoblastoma according to the American Joint Committee on Cancer, 8th edition. This staging system does not apply to central nervous system component of ""trilateral retinoblastoma"" (is staged according to the classification for brain and spinal cord), retinoma (or retinocytoma) (no AJCC staging system), and medulloepithelioma (no AJCC staging system). (from AJCC 8th Ed.)" MONDO:0008380 +MONDO:0854148 differentiated thyroid gland carcinoma by ajcc v7 stage NCIT:C140959 MONDO:equivalentTo Differentiated Thyroid Gland Carcinoma by AJCC v7 Stage A term that refers to the staging of differentiated thyroid gland carcinoma, following the rules of the TNM AJCC v7 classification system. MONDO:0015447 +MONDO:0854150 differentiated thyroid gland carcinoma by ajcc v8 stage NCIT:C140965 MONDO:equivalentTo Differentiated Thyroid Gland Carcinoma by AJCC v8 Stage A term that refers to the staging of differentiated thyroid gland carcinoma, following the rules of the TNM AJCC v8 classification system. MONDO:0015447 +MONDO:0854153 thyroid gland anaplastic carcinoma by ajcc v7 stage NCIT:C140999 MONDO:equivalentTo Thyroid Gland Anaplastic Carcinoma by AJCC v7 Stage A term that refers to the staging of thyroid gland anaplastic carcinoma, following the rules of the TNM AJCC v7 classification system. MONDO:0006468 +MONDO:0854154 thyroid gland anaplastic carcinoma by ajcc v8 stage NCIT:C141000 MONDO:equivalentTo Thyroid Gland Anaplastic Carcinoma by AJCC v8 Stage A term that refers to the staging of thyroid gland anaplastic carcinoma, following the rules of the TNM AJCC v8 classification system. MONDO:0006468 +MONDO:0854155 thyroid gland medullary carcinoma by ajcc v7 stage NCIT:C141041 MONDO:equivalentTo Thyroid Gland Medullary Carcinoma by AJCC v7 Stage A term that refers to the staging of thyroid gland medullary carcinoma, following the rules of the TNM AJCC v7 classification system. MONDO:0015277 +MONDO:0854156 thyroid gland medullary carcinoma by ajcc v8 stage NCIT:C141042 MONDO:equivalentTo Thyroid Gland Medullary Carcinoma by AJCC v8 Stage A term that refers to the staging of thyroid gland medullary carcinoma, following the rules of the TNM AJCC v8 classification system. Differentiated and anaplastic thyroid gland carcinomas are staged according to the classification for thyroid-differentiated and anaplastic carcinoma. (from AJCC 8th Ed.) MONDO:0015277 +MONDO:0854157 adrenal cortical carcinoma by ajcc v7 stage NCIT:C141098 MONDO:equivalentTo Adrenal Cortical Carcinoma by AJCC v7 Stage A term that refers to the staging of adrenal cortical carcinoma, following the rules of the TNM AJCC v7 classification system. MONDO:0006639 +MONDO:0854158 adrenal cortical carcinoma by ajcc v8 stage NCIT:C141100 MONDO:equivalentTo Adrenal Cortical Carcinoma by AJCC v8 Stage A term that refers to the staging of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system. Adrenal medullary pheochromocytoma is staged according to the classification for adrenal neuroendocrine tumors. There is no AJCC staging system for neuroblastic tumors of the adrenal gland. (from AJCC 8th Ed.) MONDO:0006639 +MONDO:0854159 adrenal gland pheochromocytoma and sympathetic paraganglioma by ajcc v8 stage NCIT:C141128 MONDO:equivalentTo Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma by AJCC v8 Stage A term that refers to the staging of adrenal gland pheochromocytoma and sympathetic paraganglioma, following the rules of the TNM AJCC v8 classification system. Parasympathetic paragangliomas are not staged because they are largely benign. This staging system does not apply to neuroendocrine tumors of the pancreas (are staged according to the classification for neuroendocrine tumors of the pancreas) and carotid body tumors (not staged). (from AJCC 8th Ed.) MONDO:0021072 +MONDO:0854166 chronic lymphocytic leukemia- modified rai staging system NCIT:C141206 MONDO:equivalentTo Chronic Lymphocytic Leukemia- Modified Rai Staging System A term that refers to the staging of chronic lymphocytic leukemia according to modified Rai staging system. This system is mainly used in North America. MONDO:0004948 +MONDO:0854167 chronic lymphocytic leukemia- binet staging system NCIT:C141208 MONDO:equivalentTo Chronic Lymphocytic Leukemia- Binet Staging System A term that refers to the staging of chronic lymphocytic leukemia according to Binet staging system. This system is in wide use outside the United States. MONDO:0004948 +MONDO:0854189 multiple myeloma by riss stage NCIT:C141393 MONDO:equivalentTo Multiple Myeloma by RISS Stage A staging system for multiple myeloma based on the Revised International Staging System (RISS) criteria. This staging system does not apply to smoldering multiple myeloma (no AJCC staging system), monoclonal gammopathy of undetermined significance (no AJCC staging system), and Waldenstrom macroglobulinemia (no AJCC staging system). (from AJCC 8th Ed.) MONDO:0009693 +MONDO:0854192 thoracic nut carcinoma NCIT:C142781 MONDO:equivalentTo Thoracic NUT Carcinoma A highly aggressive, poorly differentiated carcinoma that arises from the thoracic structures. It is characterized by mutations and rearrangement of the NUT gene. It usually presents at an advanced stage with pleuritic chest pain and pleural effusion, non-productive cough, shortness of breath, and weigh loss. MONDO:0005563|MONDO:0003274 +MONDO:0854193 benign lung pecoma NCIT:C142784 MONDO:equivalentTo Benign Lung PEComa A benign lung tumor that arises from perivascular epithelioid cells (PECs). MONDO:0002732|MONDO:0020588|MONDO:0020581 +MONDO:0854200 pulmonary artery intimal sarcoma NCIT:C142825 MONDO:equivalentTo Pulmonary Artery Intimal Sarcoma A sarcoma arising from the arterial intima of pulmonary arteries. MONDO:0006255|MONDO:0002426 +MONDO:0854201 primary pulmonary myxoid sarcoma with ewsr1-creb1 fusion NCIT:C142827 MONDO:equivalentTo Primary Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Fusion A sarcoma that arises from the lung. It is related to a bronchus and is often predominantly endobronchial. It is characterized by the proliferation of round and spindle cells within a myxoid stroma. It is associated with the presence of an EWSR1::CREB1 fusion gene. MONDO:0002426 +MONDO:0854212 refractory rhabdoid tumor NCIT:C142858 MONDO:equivalentTo Refractory Rhabdoid Tumor Rhabdoid tumor that does not respond to treatment. MONDO:0002728|MONDO:0036501 +MONDO:0854225 atypical type a thymoma NCIT:C146640 MONDO:equivalentTo Atypical Type A Thymoma A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis). MONDO:0002588 +MONDO:0854227 thymic hepatoid adenocarcinoma NCIT:C146717 MONDO:equivalentTo Thymic Hepatoid Adenocarcinoma A very rare adenocarcinoma arising from the thymus. It is characterized by the presence of malignant polygonal cells resembling hepatocytes. MONDO:0006243|MONDO:0003209 +MONDO:0854229 malignant mediastinal germ cell tumor stage grouping of the pediatric study group NCIT:C146848 MONDO:equivalentTo Malignant Mediastinal Germ Cell Tumor Stage Grouping of the Pediatric Study Group A term that refers to the staging of mediastinal malignant germ cell tumors according to the Pediatric Study Group staging criteria. This staging system is not an official UICC TNM classification. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015) MONDO:0006298 +MONDO:0854230 metastatic epithelioid hemangioendothelioma NCIT:C146858 MONDO:equivalentTo Metastatic Epithelioid Hemangioendothelioma An epithelioid hemangioendothelioma that has spread from its original site of growth to another anatomic site. MONDO:0015523|MONDO:0024880 +MONDO:0854231 mediastinal mixed germ cell tumor NCIT:C146861 MONDO:equivalentTo Mediastinal Mixed Germ Cell Tumor A malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of at least two different germ cell tumor components. The different germ cell tumor components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. MONDO:0006298|MONDO:0015864|MONDO:0005853 +MONDO:0854234 mediastinal epithelioid hemangioendothelioma NCIT:C146988 MONDO:equivalentTo Mediastinal Epithelioid Hemangioendothelioma An epithelioid hemangioendothelioma that arises from the mediastinum. MONDO:0037743|MONDO:0015523 +MONDO:0854235 cardiac extraskeletal osteosarcoma NCIT:C147003 MONDO:equivalentTo Cardiac Extraskeletal Osteosarcoma An extraskeletal osteosarcoma that arises from the heart. It produces osteoid and bone, and occasionally shows chondroblastic differentiation. MONDO:0002621|MONDO:0003354 +MONDO:0854236 cardiac myxofibrosarcoma NCIT:C147004 MONDO:equivalentTo Cardiac Myxofibrosarcoma A low-grade sarcoma that arises from the heart. It is composed of spindle or rounded cells in a myxoid stroma. The most common location is the left atrium. MONDO:0019202|MONDO:0003742 +MONDO:0854237 cardiac yolk sac tumor NCIT:C147006 MONDO:equivalentTo Cardiac Yolk Sac Tumor A yolk sac tumor that arises within the myocardium or cardiac chambers. MONDO:0001991|MONDO:0005744 +MONDO:0854242 pericardial sarcoma NCIT:C147098 MONDO:equivalentTo Pericardial Sarcoma A rare sarcoma that arises from the pericardium. The two most common types are angiosarcoma and synovial sarcoma. Patients present with symptoms related to pericardial effusion. MONDO:0018078|MONDO:0001322 +MONDO:0854249 recurrent lymphoproliferative disorder NCIT:C147861 MONDO:equivalentTo Recurrent Lymphoproliferative Disorder The reemergence of a lymphoproliferative disorder after a period of remission. +MONDO:0854250 oropharyngeal p16ink4a-negative squamous cell carcinoma NCIT:C147906 MONDO:equivalentTo Oropharyngeal p16INK4a-Negative Squamous Cell Carcinoma An oropharyngeal squamous cell carcinoma which is negative for p16INK4a by immunohistochemistry. This negative immunohistochemistry result does not exclude human papillomavirus infection. MONDO:0044704 +MONDO:0854251 central nervous system b-cell non-hodgkin lymphoma NCIT:C147948 MONDO:equivalentTo Central Nervous System B-Cell Non-Hodgkin Lymphoma A B-cell non-Hodgkin lymphoma that arises from the brain, meninges, or spinal cord. MONDO:0015759|MONDO:0044887 +MONDO:0854253 refractory melanoma NCIT:C147983 MONDO:equivalentTo Refractory Melanoma Melanoma that does not respond to treatment. MONDO:0036501|MONDO:0005105 +MONDO:0854268 refractory round cell liposarcoma NCIT:C148299 MONDO:equivalentTo Refractory Round Cell Liposarcoma Round cell liposarcoma that does not respond to treatment. MONDO:0005238 +MONDO:0854269 metastatic round cell liposarcoma NCIT:C148300 MONDO:equivalentTo Metastatic Round Cell Liposarcoma Round cell liposarcoma that has spread to other anatomic sites. MONDO:0005238 +MONDO:0854270 refractory sarcoma NCIT:C148301 MONDO:equivalentTo Refractory Sarcoma A sarcoma that does not respond to treatment. MONDO:0036501|MONDO:0005089 +MONDO:0854284 refractory leukemia NCIT:C148426 MONDO:equivalentTo Refractory Leukemia Leukemia that is resistant to treatment. MONDO:0005059|MONDO:0004111 +MONDO:0854293 castration-naive prostate carcinoma NCIT:C148536 MONDO:equivalentTo Castration-Naive Prostate Carcinoma Advanced prostatic carcinoma which was not previously treated with androgen-deprivation therapy. MONDO:0004956 +MONDO:0854294 thoracic esophagus adenocarcinoma NCIT:C150027 MONDO:equivalentTo Thoracic Esophagus Adenocarcinoma An adenocarcinoma that arises from the thoracic esophagus. MONDO:0005028|MONDO:0021325 +MONDO:0854295 thoracic esophagus squamous cell carcinoma NCIT:C150029 MONDO:equivalentTo Thoracic Esophagus Squamous Cell Carcinoma A squamous cell carcinoma that arises from the thoracic esophagus. MONDO:0005580|MONDO:0021325 +MONDO:0854296 cervical esophagus adenocarcinoma NCIT:C150031 MONDO:equivalentTo Cervical Esophagus Adenocarcinoma An adenocarcinoma that arises from the cervical esophagus. MONDO:0021326|MONDO:0005028 +MONDO:0854297 cervical esophagus squamous cell carcinoma NCIT:C150032 MONDO:equivalentTo Cervical Esophagus Squamous Cell Carcinoma A squamous cell carcinoma that arises from the cervical esophagus. MONDO:0021326|MONDO:0005580 +MONDO:0854298 gastric cardia squamous cell carcinoma NCIT:C150034 MONDO:equivalentTo Gastric Cardia Squamous Cell Carcinoma A squamous cell carcinoma that arises from the gastric cardia. MONDO:0003834|MONDO:0006230 +MONDO:0854317 high risk neuroblastoma NCIT:C150281 MONDO:equivalentTo High Risk Neuroblastoma Neuroblastoma usually presenting with metastatic disease and MYCN gene amplifications. MONDO:0005072 +MONDO:0854322 hhv8-related lymphoproliferative disorder NCIT:C150399 MONDO:equivalentTo HHV8-Related Lymphoproliferative Disorder A lymphoproliferative disorder caused by the human herpesvirus 8 (HHV8). This category includes the following: HHV8-positive multicentric Castleman disease; HHV8-positive diffuse large B-cell lymphoma, not otherwise specified; primary effusion lymphoma; and germinotropic lymphoproliferative disorders. +MONDO:0854323 hhv8-positive multicentric castleman disease NCIT:C150404 MONDO:equivalentTo HHV8-Positive Multicentric Castleman Disease Multicentric Castleman disease associated with HHV8 infection. +MONDO:0854324 extracavitary primary effusion lymphoma NCIT:C150406 MONDO:equivalentTo Extracavitary Primary Effusion Lymphoma A rare HHV8-positive B-cell lymphoma indistinguishable from primary effusion lymphoma presenting as solid tumor mass. (WHO 2017) MONDO:0018842 +MONDO:0854325 body cavity primary effusion lymphoma NCIT:C150407 MONDO:equivalentTo Body Cavity Primary Effusion Lymphoma A large B-cell lymphoma presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV8), also called Kaposi sarcoma-associated herpesvirus. It mostly occurs in the setting of immunodeficiency. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. (WHO 2017) MONDO:0018842 +MONDO:0854332 refractory malignant bone neoplasm NCIT:C150525 MONDO:equivalentTo Refractory Malignant Bone Neoplasm Malignant bone neoplasm that is resistant to treatment. MONDO:0002129|MONDO:0036501 +MONDO:0854334 refractory malignant female reproductive system neoplasm NCIT:C150527 MONDO:equivalentTo Refractory Malignant Female Reproductive System Neoplasm Malignant female reproductive system neoplasm that is resistant to treatment. MONDO:0001416|MONDO:0036501 +MONDO:0854335 refractory malignant neoplasm of multiple primary sites NCIT:C150529 MONDO:equivalentTo Refractory Malignant Neoplasm of Multiple Primary Sites Malignant neoplasm of multiple primary sites that is resistant to treatment. MONDO:0036501 +MONDO:0854339 refractory malignant male reproductive system neoplasm NCIT:C150534 MONDO:equivalentTo Refractory Malignant Male Reproductive System Neoplasm Malignant male reproductive system neoplasm that is resistant to treatment. MONDO:0005836|MONDO:0036501 +MONDO:0854340 refractory malignant mesothelioma NCIT:C150535 MONDO:equivalentTo Refractory Malignant Mesothelioma Malignant mesothelioma that is resistant to treatment. MONDO:0006292|MONDO:0036501 +MONDO:0854342 refractory malignant soft tissue neoplasm NCIT:C150537 MONDO:equivalentTo Refractory Malignant Soft Tissue Neoplasm Malignant soft tissue neoplasm that is resistant to treatment. MONDO:0024637|MONDO:0036501 +MONDO:0854345 refractory malignant endocrine neoplasm NCIT:C150541 MONDO:equivalentTo Refractory Malignant Endocrine Neoplasm Malignant endocrine neoplasm that is resistant to treatment. MONDO:0021069|MONDO:0036501 +MONDO:0854347 refractory malignant urinary system neoplasm NCIT:C150543 MONDO:equivalentTo Refractory Malignant Urinary System Neoplasm Malignant urinary system neoplasm that is resistant to treatment. MONDO:0006295|MONDO:0036501 +MONDO:0854349 refractory malignant skin neoplasm NCIT:C150546 MONDO:equivalentTo Refractory Malignant Skin Neoplasm Malignant skin neoplasm that is resistant to treatment. MONDO:0002898|MONDO:0036501 +MONDO:0854350 prostate adenocarcinoma without neuroendocrine differentiation NCIT:C150557 MONDO:equivalentTo Prostate Adenocarcinoma without Neuroendocrine Differentiation A prostate adenocarcinoma characterized by the absence of focal or diffuse neuroendocrine differentiation. MONDO:0005082 +MONDO:0854351 igm monoclonal gammopathy of undetermined significance NCIT:C150566 MONDO:equivalentTo IgM Monoclonal Gammopathy of Undetermined Significance Monoclonal gammopathy of undetermined significance defined by a serum IgM paraprotein concentration less than 30g/L; bone marrow lymphoplasmacytic infiltration of less than 10%; and no evidence of anemia, constitutional symptoms, hyperviscocity, lymphadenopathy, hepatosplenomegaly, or other end-organ damage that can be attributed to the underlying lymphoproliferative disorder. It is a precursor condition that may progress to lymphoplasmacytic lymphoma/ Waldenstrom macroglobulinemia, other B-cell neoplasms, or primary amyloidosis. Progression to plasma cell myeloma occurs rarely, if at all. (WHO 2017) MONDO:0004225 +MONDO:0854352 invasive bladder carcinoma NCIT:C150570 MONDO:equivalentTo Invasive Bladder Carcinoma A carcinoma that arises from the bladder mucosa and invades the bladder wall. MONDO:0004986|MONDO:0040677 +MONDO:0854353 localized cerebral neoplasm NCIT:C150573 MONDO:equivalentTo Localized Cerebral Neoplasm A cerebral neoplasm that is confined to a specific site without evidence of spread to other anatomic sites. MONDO:0021632|MONDO:0021374 +MONDO:0854358 non-igm monoclonal gammopathy of undetermined significance NCIT:C150588 MONDO:equivalentTo Non-IgM Monoclonal Gammopathy of Undetermined Significance Monoclonal gammopathy of undetermined significance defined by the presence in the serum of an IgG, IgA, or (rarely) IgD paraprotein at a concentration of less than 30g/L; clonal bone marrow plasma cells less than 10%; and absence of end-organ damage such as hypercalcemia, renal insufficiency, anemia, bone marrow lesions, and amyloidosis attributable to the plasma cell proliferative disorder. The risk of progression to plasma cell myeloma, light-chain amyloidosis, or a related disorder is 1% per year. (WHO 2017) MONDO:0004225 +MONDO:0854359 testicular follicular lymphoma NCIT:C150589 MONDO:equivalentTo Testicular Follicular Lymphoma A distinctive variant of follicular lymphoma arising from the testis. It has been reported with higher frequency in children, but is also seen rarely in adults. It differs biologically from nodal follicular lymphoma because it lacks evidence of the BCL2 translocation. It is usually of high cytological grade, usually grade 3A, but has a good prognosis, even without additional therapy beyond surgical excision. (WHO 2017) MONDO:0001472|MONDO:0018906 +MONDO:0854363 metastatic malignant neoplasm in the viscera NCIT:C150597 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Viscera A malignant neoplasm which has spread from its original site of growth to any visceral site. MONDO:0024880 +MONDO:0854365 resectable malignant neoplasm NCIT:C150602 MONDO:equivalentTo Resectable Malignant Neoplasm Malignant neoplasm that is amenable to surgical resection. MONDO:0004992 +MONDO:0854374 immunodeficiency-related lymphoproliferative disorder NCIT:C150672 MONDO:equivalentTo Immunodeficiency-Related Lymphoproliferative Disorder A lymphoproliferative disorder that occurs in a patient with immunodeficiency. +MONDO:0854376 tumors derived from langerhans cells NCIT:C150692 MONDO:equivalentTo Tumors Derived from Langerhans Cells This category includes two main sub-groups, according to the degree of cytological atypia and clinical aggressiveness: Langerhans cell histiocytosis and Langerhans cell sarcoma. (WHO 2017) MONDO:0006247 +MONDO:0854377 langerhans cell histiocytosis, monostotic NCIT:C150701 MONDO:equivalentTo Langerhans Cell Histiocytosis, Monostotic Langerhans cell histiocytosis presenting as a solitary lesion. MONDO:0018310 +MONDO:0854378 langerhans cell histiocytosis, polyostotic NCIT:C150702 MONDO:equivalentTo Langerhans Cell Histiocytosis, Polyostotic Langerhans cell histiocytosis presenting with multiple sites of involvement. MONDO:0018310 +MONDO:0854379 langerhans cell histiocytosis, disseminated NCIT:C150703 MONDO:equivalentTo Langerhans Cell Histiocytosis, Disseminated Langerhans cell histiocytosis presenting with disseminated disease. MONDO:0018310 +MONDO:0854381 transformed non-hodgkin lymphoma NCIT:C151957 MONDO:equivalentTo Transformed Non-Hodgkin Lymphoma Histologic transformation of a usually indolent non-Hodgkin lymphoma to an aggressive non-Hodgkin lymphoma. MONDO:0018908 +MONDO:0854382 acute leukemia of ambiguous lineage, not otherwise specified NCIT:C151975 MONDO:equivalentTo Acute Leukemia of Ambiguous Lineage, Not Otherwise Specified Acute leukemia of ambiguous lineage, expressing combinations of markers that do not allow for its classification as either acute undifferentiated leukemia or mixed phenotype acute leukemia, and definitive classification along a single lineage is difficult. (WHO 2017) MONDO:0019460 +MONDO:0854385 abdominal rhabdomyosarcoma NCIT:C151982 MONDO:equivalentTo Abdominal Rhabdomyosarcoma Rhabdomyosarcoma involving the organs and structures in the abdomen. MONDO:0005212 +MONDO:0854388 abdominal undifferentiated pleomorphic sarcoma NCIT:C151985 MONDO:equivalentTo Abdominal Undifferentiated Pleomorphic Sarcoma Undifferentiated pleomorphic sarcoma involving the organs and structures in the abdomen. MONDO:0002142 +MONDO:0854389 mixed phenotype acute leukemia, rare types NCIT:C151990 MONDO:equivalentTo Mixed Phenotype Acute Leukemia, Rare Types A very rare mixed phenotype acute leukemia in which the blasts express combinations of B, T, myeloid, and megakaryocytic lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable. MONDO:0020743 +MONDO:0854394 metastatic sarcoma NCIT:C152076 MONDO:equivalentTo Metastatic Sarcoma A sarcoma that has spread from its original site of growth to another anatomic site. MONDO:0005089|MONDO:0024880 +MONDO:0854395 refractory malignant head and neck neoplasm NCIT:C152078 MONDO:equivalentTo Refractory Malignant Head and Neck Neoplasm A malignant head and neck neoplasm that is resistant to treatment. MONDO:0005627|MONDO:0036501 +MONDO:0854414 refractory ewing sarcoma/peripheral primitive neuroectodermal tumor NCIT:C153286 MONDO:equivalentTo Refractory Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor A malignant small round cell tumor with or without neural differentiation that is resistant to treatment. MONDO:0021038|MONDO:0036501 +MONDO:0854420 metastatic chordoma NCIT:C153323 MONDO:equivalentTo Metastatic Chordoma A chordoma that has spread from its original site of growth to other anatomic sites. MONDO:0024880|MONDO:0008978 +MONDO:0854422 castration-sensitive prostate carcinoma NCIT:C153336 MONDO:equivalentTo Castration-Sensitive Prostate Carcinoma Metastatic prostatic carcinoma which is sensitive to androgen-deprivation therapy. MONDO:0004956 +MONDO:0854468 sinonasal poorly differentiated carcinoma NCIT:C154324 MONDO:equivalentTo Sinonasal Poorly Differentiated Carcinoma A poorly differentiated carcinoma that arises from the nasal cavity and/or paranasal sinuses. MONDO:0056819 +MONDO:0854469 densely granulated corticotroph pituitary neuroendocrine tumor NCIT:C154339 MONDO:equivalentTo Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor A corticotroph pituitary neuroendocrine tumor composed of basophilic PAS-positive cells that are diffusely and strongly positive for ACTH, consistent with the abundance of secretory granules seen at the ultrastructural level. (WHO) MONDO:0006068 +MONDO:0854470 sparsely granulated corticotroph pituitary neuroendocrine tumor NCIT:C154340 MONDO:equivalentTo Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor A corticotroph pituitary neuroendocrine tumor composed of faintly basophilic or chromophobic PAS-positive cells with weak or patchy positivity for ACTH, consistent with the scant, small secretory granules seen ultrastructurally. (WHO) MONDO:0006068 +MONDO:0854471 crooke cell tumor NCIT:C154342 MONDO:equivalentTo Crooke Cell Tumor A corticotroph pituitary tumor composed of cells with Crooke hyaline change. Ring-like cytokeratin expression is typical of these neoplasms. ACTH expression is dislocated to the cell periphery and juxtanuclear region. Ultrastructurally, intermediate filaments are arranged in a ring-like pattern. (WHO) MONDO:0006068 +MONDO:0854472 non-functioning corticotroph pituitary neuroendocrine tumor NCIT:C154429 MONDO:equivalentTo Non-Functioning Corticotroph Pituitary Neuroendocrine Tumor Corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome. MONDO:0019613|MONDO:0006068 +MONDO:0854479 anaplastic sarcoma of the kidney NCIT:C154496 MONDO:equivalentTo Anaplastic Sarcoma of the Kidney A rare tumor, usually occurring in young adults (mean age 12 years) with slight female predominance. It is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. Most cases show chondroid differentiation. MONDO:0002930|MONDO:0020633 +MONDO:0854480 multiple synchronous pituitary neuroendocrine tumors of distinct lineages NCIT:C154520 MONDO:equivalentTo Multiple Synchronous Pituitary Neuroendocrine Tumors of Distinct Lineages Multiple pituitary neuroendocrine tumors composed of adenohypopheseal cells of two or more lineages or a null cell tumor in combination with a lineage-specific pituitary neuroendocrine tumor in the same gland. MONDO:0006373 +MONDO:0854485 cutaneous melanoma of the extremity NCIT:C155305 MONDO:equivalentTo Cutaneous Melanoma of the Extremity A cutaneous melanoma that arises from the upper or lower extremity. MONDO:0005012 +MONDO:0854489 sarcoma of the extremity NCIT:C155647 MONDO:equivalentTo Sarcoma of the Extremity A sarcoma that arises from the soft tissues or bones of the upper or lower extremity. MONDO:0005089 +MONDO:0854492 mixed gangliocytoma-pituitary neuroendocrine tumor NCIT:C155767 MONDO:equivalentTo Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor A pituitary neoplasm composed of mature ganglionic cells admixed with pituitary neoplastic neuroendocrine cells. MONDO:0021043|MONDO:0006373 +MONDO:0854495 ependymal pituicytoma NCIT:C155774 MONDO:equivalentTo Ependymal Pituicytoma A very rare, low-grade neoplasm that arises from the posterior pituitary. It is composed of epithelioid and oncocytic cells forming sheets and fascicles. It shows histopathological features reminiscent of ependymomas, including perivascular pseudorosettes and true rosettes. There is no evidence of necrosis or increased mitotic activity. Despite the presence of ependymal histopathological features, these neoplasms probably are not related to ependymomas. Their prognosis is unknown. MONDO:0003257 +MONDO:0854496 sellar meningioma NCIT:C155776 MONDO:equivalentTo Sellar Meningioma A rare meningioma that arises from the sellar region. MONDO:0002998|MONDO:0002720 +MONDO:0854500 sellar solitary fibrous tumor NCIT:C155784 MONDO:equivalentTo Sellar Solitary Fibrous Tumor An extremely rare meningeal solitary fibrous tumor that arises from the sellar region. MONDO:0002720|MONDO:0003223 +MONDO:0854518 metastatic malignant pancreatic neoplasm NCIT:C155852 MONDO:equivalentTo Metastatic Malignant Pancreatic Neoplasm A malignant neoplasm that arises from the pancreas and has metastasized to another anatomic site. MONDO:0009831|MONDO:0024880 +MONDO:0854521 chest wall sarcoma NCIT:C155873 MONDO:equivalentTo Chest Wall Sarcoma A sarcoma that arises from the anatomic structures that surround the lungs and the pleura. MONDO:0005089|MONDO:0021323 +MONDO:0854523 unresectable desmoid fibromatosis NCIT:C155877 MONDO:equivalentTo Unresectable Desmoid Fibromatosis Desmoid fibromatosis that is not amenable to surgical resection. MONDO:0007608 +MONDO:0854527 smoldering waldenstrom macroglobulinemia NCIT:C155910 MONDO:equivalentTo Smoldering Waldenstrom Macroglobulinemia Waldenstrom macroglobulinemia with serum IgM monoclonal protein equal or more than 3 g/dL and/or at least 10% bone marrow lymphoplasmacytic infiltration but no evidence of constitutional symptoms, symptomatic anemia, or hyperviscosity. (Blood 2008, 112:2709) MONDO:0100280 +MONDO:0854528 metastatic malignant neoplasm in the thoracic cavity NCIT:C155919 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Thoracic Cavity A malignant neoplasm that has spread to the thoracic cavity from another anatomic site. MONDO:0024880|MONDO:0003274 +MONDO:0854529 medullary hemangioblastoma NCIT:C155949 MONDO:equivalentTo Medullary Hemangioblastoma A hemangioblastoma that arises from the medulla oblongata. MONDO:0003902 +MONDO:0854530 chromophobe renal cell carcinoma associated with birt-hogg-dube syndrome NCIT:C155951 MONDO:equivalentTo Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome Chromophobe renal cell carcinoma that develops in a patient with Birt-Hogg-Dube syndrome. MONDO:0017885 +MONDO:0854531 uterine ligament papillary cystadenoma NCIT:C155952 MONDO:equivalentTo Uterine Ligament Papillary Cystadenoma A cystadenoma that arises from the broad or other uterine ligaments. It is characterized by the presence of small papillary projections in the inner surface of the cysts. It may be sporadic or associated with von Hippel-Lindau disease. MONDO:0021091|MONDO:0020582 +MONDO:0854533 thyroid gland spindle cell follicular adenoma NCIT:C155957 MONDO:equivalentTo Thyroid Gland Spindle Cell Follicular Adenoma A rare thyroid gland follicular adenoma composed predominantly of spindle cells. MONDO:0005032 +MONDO:0854534 thyroid gland black follicular adenoma NCIT:C155958 MONDO:equivalentTo Thyroid Gland Black Follicular Adenoma A thyroid gland follicular adenoma seen in patients treated with minocycline. The tumors have black discoloration visible on macroscopic examination and cytoplasmic accumulation of black pigment. (WHO 2017) MONDO:0005032 +MONDO:0854545 hypothalamic-chiasmatic pilomyxoid astrocytoma NCIT:C156038 MONDO:equivalentTo Hypothalamic-Chiasmatic Pilomyxoid Astrocytoma A pilomyxoid astrocytoma occurring in the hypothalamic-chiasmatic region. MONDO:0016692 +MONDO:0854546 fourth ventricle medulloblastoma NCIT:C156039 MONDO:equivalentTo Fourth Ventricle Medulloblastoma A medulloblastoma occurring in the fourth ventricle. MONDO:0007959 +MONDO:0854547 third ventricle germinoma NCIT:C156040 MONDO:equivalentTo Third Ventricle Germinoma A germinoma that arises from the third ventricle. MONDO:0002214 +MONDO:0854549 temporal lobe pleomorphic xanthoastrocytoma NCIT:C156042 MONDO:equivalentTo Temporal Lobe Pleomorphic Xanthoastrocytoma A pleomorphic xanthoastrocytoma that arises from the temporal lobe of the brain. MONDO:0016690 +MONDO:0854550 spindle cell variant thyroid gland papillary carcinoma NCIT:C156045 MONDO:equivalentTo Spindle Cell Variant Thyroid Gland Papillary Carcinoma Papillary carcinoma of the thyroid gland with focal areas of spindle cell metaplasia. MONDO:0005075 +MONDO:0854551 hobnail variant thyroid gland papillary carcinoma NCIT:C156050 MONDO:equivalentTo Hobnail Variant Thyroid Gland Papillary Carcinoma A rare variant of papillary thyroid gland carcinoma in which more than 30% of cells have hobnail features. (WHO) MONDO:0005075 +MONDO:0854584 metastatic neuroblastoma NCIT:C156101 MONDO:equivalentTo Metastatic Neuroblastoma A neuroblastoma that has metastasized from its original site of growth to another anatomic site. MONDO:0024880|MONDO:0005072 +MONDO:0854588 thyroid gland follicular carcinoma, encapsulated angioinvasive NCIT:C156122 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Encapsulated Angioinvasive An encapsulated follicular carcinoma of the thyroid gland which shows angioinvasion. MONDO:0005034 +MONDO:0854589 thyroid gland follicular carcinoma, widely invasive NCIT:C156123 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Widely Invasive A follicular carcinoma of the thyroid gland with extension into surrounding thyroid or extrathyroid tissues. MONDO:0040677|MONDO:0005034 +MONDO:0854594 thyroid gland mucinous carcinoma NCIT:C156267 MONDO:equivalentTo Thyroid Gland Mucinous Carcinoma A rare primary carcinoma of the thyroid gland characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. MONDO:0015075 +MONDO:0854595 intrathyroidal thymoma NCIT:C156268 MONDO:equivalentTo Intrathyroidal Thymoma A rare thymoma arising within or is attached to the thyroid gland. MONDO:0015074|MONDO:0006456 +MONDO:0854598 orbital alveolar soft part sarcoma NCIT:C156276 MONDO:equivalentTo Orbital Alveolar Soft Part Sarcoma An alveolar soft part sarcoma involving the orbit. It usually occurs in children. MONDO:0004943|MONDO:0011655 +MONDO:0854599 bladder alveolar soft part sarcoma NCIT:C156277 MONDO:equivalentTo Bladder Alveolar Soft Part Sarcoma An alveolar soft part sarcoma involving the bladder. MONDO:0001374|MONDO:0011655 +MONDO:0854600 cellular nerve sheath myxoma NCIT:C156278 MONDO:equivalentTo Cellular Nerve Sheath Myxoma A nerve sheath myxoma with increased cellularity. MONDO:0006317 +MONDO:0854601 colon liposarcoma NCIT:C156279 MONDO:equivalentTo Colon Liposarcoma A liposarcoma that arises from the colon. MONDO:0003352|MONDO:0005060 +MONDO:0854608 thyroid gland schwannoma NCIT:C156340 MONDO:equivalentTo Thyroid Gland Schwannoma A rare schwannoma that arises from the thyroid gland. MONDO:0004820|MONDO:0006107 +MONDO:0854616 thyroid gland solitary fibrous tumor NCIT:C156349 MONDO:equivalentTo Thyroid Gland Solitary Fibrous Tumor A rare solitary fibrous tumor that arises from the thyroid gland. MONDO:0016238|MONDO:0015074 +MONDO:0854631 metastatic neuroendocrine neoplasm NCIT:C156485 MONDO:equivalentTo Metastatic Neuroendocrine Neoplasm A neuroendocrine neoplasm that has spread from its original site of growth to another anatomic site. MONDO:0019496|MONDO:0024880 +MONDO:0854639 malignant abdominal neoplasm NCIT:C156714 MONDO:equivalentTo Malignant Abdominal Neoplasm A primary or metastatic malignant neoplasm that affects the organs and structures of the abdomen. MONDO:0004992 +MONDO:0854640 malignant pelvic neoplasm NCIT:C156715 MONDO:equivalentTo Malignant Pelvic Neoplasm A primary or metastatic malignant neoplasm that affects the organs and structures of the pelvis. MONDO:0004992 +MONDO:0854647 metastatic basal cell carcinoma NCIT:C156769 MONDO:equivalentTo Metastatic Basal Cell Carcinoma A carcinoma that arises from the basal cells and has metastasized to another anatomic site. MONDO:0024879|MONDO:0020804 +MONDO:0854656 adrenal cortical sex cord-stromal tumor NCIT:C156943 MONDO:equivalentTo Adrenal Cortical Sex Cord-Stromal Tumor An extremely rare sex cord-stromal tumor that arises from the adrenal cortex. The reported cases were solitary and unilateral. MONDO:0006055|MONDO:0036591 +MONDO:0854657 adrenal gland schwannoma NCIT:C156944 MONDO:equivalentTo Adrenal Gland Schwannoma A rare schwannoma that arises from the adrenal medulla. MONDO:0021468|MONDO:0004820 +MONDO:0854658 adrenal gland lymphoma NCIT:C156945 MONDO:equivalentTo Adrenal Gland Lymphoma A rare lymphoma that arises from the adrenal gland. MONDO:0002817|MONDO:0001499 +MONDO:0854659 adrenal gland sarcoma NCIT:C156956 MONDO:equivalentTo Adrenal Gland Sarcoma A rare sarcoma that arises from the adrenal gland. MONDO:0002817|MONDO:0001501 +MONDO:0854660 primary vitreoretinal non-hodgkin lymphoma NCIT:C157065 MONDO:equivalentTo Primary Vitreoretinal Non-Hodgkin Lymphoma An uncommon and potentially fatal intraocular non-Hodgkin lymphoma that involves the uvea, retina, vitreous body, and optic nerve. It is a subset of primary central nervous system non-Hodgkin lymphoma. The majority of cases are diffuse large B-cell lymphomas. MONDO:0004351|MONDO:0044887 +MONDO:0854663 unresectable paraganglioma NCIT:C157126 MONDO:equivalentTo Unresectable Paraganglioma Paraganglioma that is not amenable to surgical resection. MONDO:0000448 +MONDO:0854669 breast histiocytoid carcinoma NCIT:C157235 MONDO:equivalentTo Breast Histiocytoid Carcinoma A rare variant of invasive lobular breast carcinoma characterized by the presence of histiocyte-like malignant cells with pale cytoplasm forming sheets or linear patterns. Apocrine differentiation may be present. It usually has an aggressive clinical course. MONDO:0005051 +MONDO:0854670 adrenal gland ganglioneuroblastoma, intermixed NCIT:C157243 MONDO:equivalentTo Adrenal Gland Ganglioneuroblastoma, Intermixed An intermixed ganglioneuroblastoma arising from the adrenal gland. MONDO:0004477|MONDO:0003326 +MONDO:0854671 adrenal gland ganglioneuroblastoma, nodular NCIT:C157244 MONDO:equivalentTo Adrenal Gland Ganglioneuroblastoma, Nodular A nodular ganglioneuroblastoma arising from the adrenal gland. MONDO:0004477|MONDO:0003325 +MONDO:0854672 composite paraganglioma NCIT:C157246 MONDO:equivalentTo Composite Paraganglioma A neoplasm that combines morphologic characteristics of paraganglioma and neuroectodermal tumors such as neuroblastoma, ganglioneuroma, ganglioneuroblastoma, or peripheral nerve sheath tumor. MONDO:0000448 +MONDO:0854679 peripheral hemangioblastoma NCIT:C157450 MONDO:equivalentTo Peripheral Hemangioblastoma A hemangioblastoma that arises from peripheral nerves or extraneural tissues. MONDO:0016748 +MONDO:0854680 metastatic squamous cell carcinoma in the cervical lymph nodes NCIT:C157452 MONDO:equivalentTo Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes. MONDO:0044907|MONDO:0005438 +MONDO:0854688 bap1-mutant clear cell renal cell carcinoma NCIT:C157614 MONDO:equivalentTo BAP1-Mutant Clear Cell Renal Cell Carcinoma A clear cell renal cell carcinoma that is associated with a mutation in BAP1 gene. These tumors are typically high grade and associated with poor outcome. MONDO:0005005 +MONDO:0854691 transformed chronic lymphocytic leukemia to diffuse large b-cell lymphoma NCIT:C157624 MONDO:equivalentTo Transformed Chronic Lymphocytic Leukemia to Diffuse Large B-Cell Lymphoma Histologic transformation of an indolent chronic lymphocytic leukemia to an aggressive diffuse large B-cell lymphoma. MONDO:0004948 +MONDO:0854692 metastatic adenoid cystic carcinoma NCIT:C157638 MONDO:equivalentTo Metastatic Adenoid Cystic Carcinoma An adenoid cystic carcinoma that has spread from the original site of growth to other anatomic sites. MONDO:0004971|MONDO:0024879 +MONDO:0854698 refractory lymphoproliferative disorder NCIT:C157686 MONDO:equivalentTo Refractory Lymphoproliferative Disorder Lymphoproliferative disorder that is resistant to treatment. +MONDO:0854705 kidney synovial sarcoma NCIT:C157737 MONDO:equivalentTo Kidney Synovial Sarcoma A synovial sarcoma arising from the kidney. MONDO:0002930|MONDO:0010434 +MONDO:0854706 kidney neuroendocrine neoplasm NCIT:C157743 MONDO:equivalentTo Kidney Neuroendocrine Neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the kidney. It includes neuroendocrine tumor, small cell neuroendocrine carcinoma, large cell neuroendocrine carcinoma, and paraganglioma. MONDO:0019496|MONDO:0021163 +MONDO:0854708 metanephric tumor NCIT:C157748 MONDO:equivalentTo Metanephric Tumor A neoplasm arising from the distal convoluted tubule and collecting duct areas of the kidney. MONDO:0002513|MONDO:0036976 +MONDO:0854714 bladder neuroendocrine neoplasm NCIT:C157758 MONDO:equivalentTo Bladder Neuroendocrine Neoplasm A neuroendocrine neoplasm that arises from the bladder. MONDO:0019496|MONDO:0004987 +MONDO:0854748 subcutaneous disorder NCIT:C157995 MONDO:equivalentTo Subcutaneous Disorder A disorder of the subcutaneous tissue. +MONDO:0854749 kidney epithelioid angiomyolipoma NCIT:C158032 MONDO:equivalentTo Kidney Epithelioid Angiomyolipoma An angiomyolipoma that arises from the kidney and is composed exclusively or predominantly of epithelioid cells. It is often associated with cytologic atypia and may recur or metastasize. MONDO:0004555|MONDO:0002606 +MONDO:0854750 kidney mixed epithelial and stromal tumor family NCIT:C158046 MONDO:equivalentTo Kidney Mixed Epithelial and Stromal Tumor Family A family of tumors ranging from predominantly cystic tumors (adult cystic nephromas) to tumors that are variably solid (mixed epithelial and stromal tumors) and contain biphasic epithelial and stromal components with spindle stroma, glands, and cysts. Most of these tumors are benign. (WHO 2016). MONDO:0021163 +MONDO:0854756 bladder non-invasive urothelial neoplasm NCIT:C158374 MONDO:equivalentTo Bladder Non-Invasive Urothelial Neoplasm A non-invasive neoplasm that arises from the urothelial lining of the bladder. MONDO:0003755|MONDO:0004987 +MONDO:0854773 platinum-sensitive lung small cell carcinoma NCIT:C158495 MONDO:equivalentTo Platinum-Sensitive Lung Small Cell Carcinoma Lung small cell carcinoma that is sensitive to platinum therapy. MONDO:0008433 +MONDO:0854780 borderline ovarian mixed epithelial tumor/atypical proliferative ovarian mixed epithelial tumor NCIT:C158616 MONDO:equivalentTo Borderline Ovarian Mixed Epithelial Tumor/Atypical Proliferative Ovarian Mixed Epithelial Tumor A low grade, non-invasive mixed epithelial proliferative neoplasm that arises from the ovary. In most cases is composed of serous and endocervical-type mucinous cells. MONDO:0021043|MONDO:0016093 +MONDO:0854781 endometrioid tumor, variant with squamous differentiation NCIT:C158620 MONDO:equivalentTo Endometrioid Tumor, Variant with Squamous Differentiation An endometrioid tumor exhibiting squamous differentiation. MONDO:0002480 +MONDO:0854783 bladder soft tissue neoplasm NCIT:C158636 MONDO:equivalentTo Bladder Soft Tissue Neoplasm A mesenchymal neoplasm that arises from the bladder. MONDO:0006424|MONDO:0004987 +MONDO:0854795 early stage pancreatic ductal adenocarcinoma NCIT:C158961 MONDO:equivalentTo Early Stage Pancreatic Ductal Adenocarcinoma Pancreatic ductal adenocarcinoma that has not spread beyond the pancreas. MONDO:0005184 +MONDO:0854803 kidney rhabdomyosarcoma NCIT:C159206 MONDO:equivalentTo Kidney Rhabdomyosarcoma An extremely rare rhabdomyosarcoma arising from the kidney. Most cases are of embryonal type. MONDO:0002930|MONDO:0005212 +MONDO:0854804 kidney ewing sarcoma NCIT:C159208 MONDO:equivalentTo Kidney Ewing Sarcoma A rare Ewing sarcoma arising from the kidney. MONDO:0018270|MONDO:0002930 +MONDO:0854806 kidney hemangioma NCIT:C159211 MONDO:equivalentTo Kidney Hemangioma A rare hemangioma arising from the kidney. MONDO:0002513|MONDO:0006500 +MONDO:0854807 kidney lymphangioma NCIT:C159214 MONDO:equivalentTo Kidney Lymphangioma A rare lymphangioma arising from the kidney. MONDO:0002013|MONDO:0002513 +MONDO:0854808 kidney schwannoma NCIT:C159221 MONDO:equivalentTo Kidney Schwannoma A rare schwannoma arising from the kidney. MONDO:0002513|MONDO:0004820 +MONDO:0854809 kidney solitary fibrous tumor NCIT:C159222 MONDO:equivalentTo Kidney Solitary Fibrous Tumor A rare solitary fibrous tumor arising from the kidney. MONDO:0016238|MONDO:0021163 +MONDO:0854812 kidney germ cell tumor NCIT:C159227 MONDO:equivalentTo Kidney Germ Cell Tumor A rare benign or malignant germ cell tumor that arises from the kidney. MONDO:0018201|MONDO:0021163 +MONDO:0854813 penile human papillomavirus-independent squamous cell carcinoma NCIT:C159244 MONDO:equivalentTo Penile Human Papillomavirus-Independent Squamous Cell Carcinoma A squamous cell carcinoma that arises from the penis and is not caused by human papillomavirus infection. Morphologic variants include pseudohyperplastic, pseudoglandular, verrucous, papillary, and sarcomatoid carcinoma. MONDO:0018352 +MONDO:0854815 penile carcinoma cuniculatum NCIT:C159247 MONDO:equivalentTo Penile Carcinoma Cuniculatum A variant of verrucous carcinoma of the penis. It is characterized by a labyrinthine growth pattern. MONDO:0003698 +MONDO:0854817 penile papillary-basaloid carcinoma NCIT:C159249 MONDO:equivalentTo Penile Papillary-Basaloid Carcinoma A variant of penile basaloid squamous cell carcinoma. It is characterized by a papillary exophytic or endophytic growth pattern. MONDO:0004089 +MONDO:0854818 penile warty-basaloid carcinoma NCIT:C159250 MONDO:equivalentTo Penile Warty-Basaloid Carcinoma A squamous cell carcinoma that arises from the penis. It is characterized by warty (condylomatous) and basaloid features. MONDO:0004430|MONDO:0020656 +MONDO:0854819 penile lymphoepithelioma-like carcinoma NCIT:C159252 MONDO:equivalentTo Penile Lymphoepithelioma-Like Carcinoma A variant of penile squamous cell carcinoma characterized by the presence of islands of malignant cells with uniform vesicular nuclei and prominent nucleoli, and a dense lymphocytic infiltrate. MONDO:0003572|MONDO:0020656 +MONDO:0854820 borderline ovarian mucinous tumor/atypical proliferative ovarian mucinous tumor with microinvasion NCIT:C159311 MONDO:equivalentTo Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Microinvasion A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic mucinous epithelial cells, atypia, and microinvasion of the ovarian stroma. MONDO:0003756 +MONDO:0854828 bladder rhabdomyosarcoma NCIT:C159667 MONDO:equivalentTo Bladder Rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the bladder. MONDO:0001374|MONDO:0005212 +MONDO:0854831 bladder leiomyosarcoma NCIT:C159670 MONDO:equivalentTo Bladder Leiomyosarcoma A leiomyosarcoma that arises from the bladder. It is the most common type of bladder sarcoma in adults. MONDO:0001374|MONDO:0005058 +MONDO:0854838 bladder hemangioma NCIT:C159680 MONDO:equivalentTo Bladder Hemangioma A hemangioma that arises from the bladder. Most tumors occur in adults. MONDO:0000384|MONDO:0006500 +MONDO:0854839 bladder granular cell tumor NCIT:C159681 MONDO:equivalentTo Bladder Granular Cell Tumor A rare granular cell tumor arising from the bladder. Most tumors are benign. MONDO:0006235|MONDO:0004987 +MONDO:0854840 bladder neurofibroma NCIT:C159682 MONDO:equivalentTo Bladder Neurofibroma A plexiform or diffuse neurofibroma arising from the bladder. MONDO:0000384|MONDO:0016755 +MONDO:0854841 ebv-related lymphoproliferative disorder NCIT:C159717 MONDO:equivalentTo EBV-Related Lymphoproliferative Disorder A lymphoproliferative disorder associated with Epstein-Barr virus. This category includes, but is not limited to, Burkitt lymphoma, classic Hodgkin lymphoma, and lymphomas arising in immunocompromised individuals. +MONDO:0854843 platinum-sensitive ovarian carcinoma NCIT:C159902 MONDO:equivalentTo Platinum-Sensitive Ovarian Carcinoma Ovarian carcinoma that has a documented response to platinum-based chemotherapy. MONDO:0005140 +MONDO:0854845 carcinoma arising in bladder diverticulum NCIT:C160158 MONDO:equivalentTo Carcinoma Arising in Bladder Diverticulum A carcinoma arising in a bladder diverticulum. Approximately one-third to half of the cases represent non-invasive, low-grade or high-grade urothelial carcinomas. Approximately half of the invasive carcinomas are urothelial. The rest include adenocarcinomas, squamous cell carcinomas, and small cell carcinomas. MONDO:0004986 +MONDO:0854847 metastatic nut carcinoma NCIT:C160297 MONDO:equivalentTo Metastatic NUT Carcinoma NUT carcinoma that has spread from its original site of growth to another anatomic site. MONDO:0024879|MONDO:0005563 +MONDO:0854850 hematologic malignancy-associated skin squamous cell carcinoma NCIT:C160666 MONDO:equivalentTo Hematologic Malignancy-Associated Skin Squamous Cell Carcinoma A squamous cell carcinoma that arises from the skin in a patient with a history of hematologic malignancy, usually non-Hodgkin lymphoma or chronic lymphocytic leukemia. MONDO:0002529 +MONDO:0854854 prostate acinar microcystic adenocarcinoma NCIT:C160817 MONDO:equivalentTo Prostate Acinar Microcystic Adenocarcinoma Acinar prostate adenocarcinoma characterized by the presence of microcystic foci in radical prostatectomy specimens. MONDO:0002493 +MONDO:0854855 prostate acinar pleomorphic giant cell adenocarcinoma NCIT:C160818 MONDO:equivalentTo Prostate Acinar Pleomorphic Giant Cell Adenocarcinoma An extremely rare prostate acinar adenocarcinoma characterized by the presence of giant, bizarre anaplastic cells with pleomorphic nuclei and lack of a spindle cell component. MONDO:0002493 +MONDO:0854859 platinum-sensitive primary peritoneal carcinoma NCIT:C160872 MONDO:equivalentTo Platinum-Sensitive Primary Peritoneal Carcinoma Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy. MONDO:0015686 +MONDO:0854860 platinum-sensitive fallopian tube carcinoma NCIT:C160873 MONDO:equivalentTo Platinum-Sensitive Fallopian Tube Carcinoma Fallopian tube carcinoma that has a documented response to platinum-based chemotherapy. MONDO:0006206 +MONDO:0854866 cribriform adenocarcinoma of minor salivary gland NCIT:C160974 MONDO:equivalentTo Cribriform Adenocarcinoma of Minor Salivary Gland A minor salivary gland adenocarcinoma characterized by a cribriform pattern. It often metastasizes to the neck lymph nodes. MONDO:0006304|MONDO:0006176 +MONDO:0854867 sinonasal adenocarcinoma NCIT:C160976 MONDO:equivalentTo Sinonasal Adenocarcinoma Adenocarcinomas that arises from the sinonasal tract. This category includes salivary-type and non-salivary type adenocarcinomas. The latter includes intestinal-type and non-intestinal-type adenocarcinomas. MONDO:0056819|MONDO:0004970 +MONDO:0854868 head and neck sebaceous carcinoma NCIT:C160978 MONDO:equivalentTo Head and Neck Sebaceous Carcinoma A sebaceous carcinoma that arises from the head and neck region. MONDO:0006962|MONDO:0002038 +MONDO:0854872 prostate intraductal carcinoma NCIT:C161022 MONDO:equivalentTo Prostate Intraductal Carcinoma An intra-acinar and/or intraductal neoplastic epithelial proliferation in the prostate gland that has some features of high-grade prostatic intraepithelial neoplasia but exhibits much greater architectural and/or cytological atypia, typically associated with high-grade, high-stage prostate carcinoma. (WHO 2016) MONDO:0005159 +MONDO:0854873 prostate synovial sarcoma NCIT:C161034 MONDO:equivalentTo Prostate Synovial Sarcoma A rare synovial sarcoma that arises from the prostate gland. MONDO:0002854|MONDO:0010434 +MONDO:0854874 prostate osteosarcoma NCIT:C161035 MONDO:equivalentTo Prostate Osteosarcoma A rare osteosarcoma that arises from the prostate gland. MONDO:0002621|MONDO:0002854 +MONDO:0854875 prostate undifferentiated pleomorphic sarcoma NCIT:C161038 MONDO:equivalentTo Prostate Undifferentiated Pleomorphic Sarcoma A rare undifferentiated pleomorphic sarcoma that arises from the prostate gland. MONDO:0002854|MONDO:0002142 +MONDO:0854877 prostate soft tissue neoplasm NCIT:C161045 MONDO:equivalentTo Prostate Soft Tissue Neoplasm A mesenchymal neoplasm that arises from the prostate gland. MONDO:0006424|MONDO:0021259 +MONDO:0854881 prostate hemangioma NCIT:C161581 MONDO:equivalentTo Prostate Hemangioma A rare hemangioma that arises from the prostate gland. MONDO:0021510|MONDO:0006500 +MONDO:0854886 prostate carcinoma metastatic in the lymph nodes NCIT:C161587 MONDO:equivalentTo Prostate Carcinoma Metastatic in the Lymph Nodes A carcinoma that arises from the prostate gland and has spread to the lymph nodes. MONDO:0004956|MONDO:0005438 +MONDO:0854888 prostate cystadenoma NCIT:C161606 MONDO:equivalentTo Prostate Cystadenoma A rare cystadenoma affecting the prostate gland. It is characterized by the presence of multilocular prostatic cysts. MONDO:0021510|MONDO:0002369 +MONDO:0854889 prostate wilms tumor NCIT:C161607 MONDO:equivalentTo Prostate Wilms Tumor A rare Wilms tumor affecting the prostate gland. MONDO:0008315|MONDO:0006058 +MONDO:0854891 prostate melanoma NCIT:C161611 MONDO:equivalentTo Prostate Melanoma An exceptionally rare melanoma arising from the prostate gland. MONDO:0006320|MONDO:0008315 +MONDO:0854893 seminal vesicle mixed epithelial and stromal tumor NCIT:C161636 MONDO:equivalentTo Seminal Vesicle Mixed Epithelial and Stromal Tumor A rare biphasic neoplasm that arises from the seminal vesicle. It is characterized by the presence of stromal and benign epithelial components. Rarely, the stromal component may display atypia and mitotic activity and the tumor may behave in a malignant clinical course. MONDO:0021043|MONDO:0002790 +MONDO:0854895 benign seminal vesicle neoplasm NCIT:C161643 MONDO:equivalentTo Benign Seminal Vesicle Neoplasm A neoplasm that arises from the seminal vesicle and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0000625|MONDO:0002790 +MONDO:0854896 malignant seminal vesicle neoplasm NCIT:C161644 MONDO:equivalentTo Malignant Seminal Vesicle Neoplasm A primary or metastatic malignant neoplasm that affects the seminal vesicle. MONDO:0005836|MONDO:0002790 +MONDO:0854902 regressed testicular germ cell tumor NCIT:C162139 MONDO:equivalentTo Regressed Testicular Germ Cell Tumor A testicular germ cell tumor that has undergone either partial or complete regression, resulting in the creation of a fibrotic nodule in the testis. MONDO:0010108 +MONDO:0854909 cervical cancer by figo stage 2018 NCIT:C162225 MONDO:equivalentTo Cervical Cancer by FIGO Stage 2018 A term that refers to the staging of cervical cancer according to the International Federation of Gynecology and Obstetrics (FIGO) staging, 2018. MONDO:0005131 +MONDO:0854911 metastatic malignant digestive system neoplasm NCIT:C162255 MONDO:equivalentTo Metastatic Malignant Digestive System Neoplasm A malignant neoplasm that arises in the digestive system and has spread from its original site of growth to other anatomic sites. MONDO:0002516|MONDO:0024880 +MONDO:0854912 hypermutated colorectal carcinoma NCIT:C162256 MONDO:equivalentTo Hypermutated Colorectal Carcinoma A colorectal carcinoma characterized by a high mutational rate caused by DNA mismatch repair deficiency or POLE/POLD1 driver mutations. MONDO:0024331 +MONDO:0854925 thymic neuroendocrine neoplasm NCIT:C162460 MONDO:equivalentTo Thymic Neuroendocrine Neoplasm A carcinoid tumor or neuroendocrine carcinoma arising from the thymus gland. MONDO:0018079|MONDO:0019496 +MONDO:0854927 intratubular large cell hyalinizing sertoli cell neoplasia NCIT:C162466 MONDO:equivalentTo Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia A clinically benign intratubular neoplastic proliferation of large Sertoli cells in the testis. It is associated with prominent basement membrane deposits. It occurs almost exclusively in patients with Peutz-Jeghers syndrome. MONDO:0003125 +MONDO:0854928 testicular diffuse large b-cell lymphoma NCIT:C162467 MONDO:equivalentTo Testicular Diffuse Large B-Cell Lymphoma A diffuse large B-cell lymphoma that arises from the testis. It predominantly affects older men. Patients usually present with a unilateral hard painless mass. Bilateral masses have been described in a minority of patients. MONDO:0001472|MONDO:0018905 +MONDO:0854929 testicular nasal type extranodal nk/t-cell lymphoma NCIT:C162468 MONDO:equivalentTo Testicular Nasal Type Extranodal NK/T-Cell Lymphoma A nasal type extranodal NK/T-cell lymphoma affecting the testis. Patients usually present with unilateral testicular enlargement. Bilateral involvement is rare. The prognosis is poor. MONDO:0001472|MONDO:0019472 +MONDO:0854930 testicular myeloid sarcoma NCIT:C162469 MONDO:equivalentTo Testicular Myeloid Sarcoma A rare myeloid sarcoma that arises from the testis. At presentation the involvement is usually unilateral. MONDO:0005447|MONDO:0006861 +MONDO:0854931 testicular plasmacytoma NCIT:C162470 MONDO:equivalentTo Testicular Plasmacytoma A rare plasmacytoma that arises in the testis. At presentation the involvement is usually unilateral. MONDO:0005447|MONDO:0002754 +MONDO:0854936 paratesticular neoplasm NCIT:C162485 MONDO:equivalentTo Paratesticular Neoplasm A benign, borderline, or malignant neoplasm that affects the paratesticular structures. MONDO:0024582 +MONDO:0854952 penile melanoma NCIT:C162547 MONDO:equivalentTo Penile Melanoma A melanoma that arises from the penis. It may be cutaneous or mucosal. The most common site of involvement is glans penis. MONDO:0001325|MONDO:0005105 +MONDO:0854953 penile lymphoma NCIT:C162548 MONDO:equivalentTo Penile Lymphoma A lymphoma that arises from penile skin, subcutis, corpora cavernosa, and spongiosum. Diffuse large B-cell lymphoma is the most common primary penile lymphoma. (WHO 2016) MONDO:0001325|MONDO:0017207 +MONDO:0854955 primary peritoneal undifferentiated carcinoma NCIT:C162562 MONDO:equivalentTo Primary Peritoneal Undifferentiated Carcinoma An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation. MONDO:0015686|MONDO:0005617 +MONDO:0854956 primary peritoneal transitional cell carcinoma NCIT:C162564 MONDO:equivalentTo Primary Peritoneal Transitional Cell Carcinoma An extremely rare transitional cell carcinoma that arises from the peritoneum. MONDO:0015686|MONDO:0006474 +MONDO:0854959 penile soft tissue neoplasm NCIT:C162574 MONDO:equivalentTo Penile Soft Tissue Neoplasm A rare mesenchymal neoplasm that arises from the penis. MONDO:0006424|MONDO:0006895 +MONDO:0854966 penile malignant peripheral nerve sheath tumor NCIT:C162584 MONDO:equivalentTo Penile Malignant Peripheral Nerve Sheath Tumor A rare malignant peripheral nerve sheath tumor that occurs in the penis. MONDO:0001387|MONDO:0017827 +MONDO:0854967 penile leiomyosarcoma NCIT:C162585 MONDO:equivalentTo Penile Leiomyosarcoma A leiomyosarcoma that occurs in the penis. MONDO:0001387|MONDO:0005058 +MONDO:0854968 penile schwannoma NCIT:C162586 MONDO:equivalentTo Penile Schwannoma A schwannoma that occurs in the penis. MONDO:0004820|MONDO:0021458 +MONDO:0854969 penile neurofibroma NCIT:C162587 MONDO:equivalentTo Penile Neurofibroma A neurofibroma that occurs in the penis. MONDO:0021458|MONDO:0016755 +MONDO:0854970 penile rhabdomyosarcoma NCIT:C162588 MONDO:equivalentTo Penile Rhabdomyosarcoma A rhabdomyosarcoma that occurs in the penis. It usually affects young children. Embryonal rhabdomyosarcoma is the most common type. MONDO:0001387|MONDO:0005212 +MONDO:0854971 penile undifferentiated pleomorphic sarcoma NCIT:C162589 MONDO:equivalentTo Penile Undifferentiated Pleomorphic Sarcoma A rare undifferentiated pleomorphic sarcoma that occurs in the penis. MONDO:0001387|MONDO:0002142 +MONDO:0854974 metastatic malignant neoplasm in the head and neck NCIT:C162594 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Head and Neck The spread of a malignant neoplasm to the head and neck. This may be from a primary head and neck malignant neoplasm, or from a malignant neoplasm at a distant site. MONDO:0005627|MONDO:0024880 +MONDO:0854984 refractory childhood malignant neoplasm NCIT:C162703 MONDO:equivalentTo Refractory Childhood Malignant Neoplasm A childhood malignant neoplasm that does not respond to treatment. MONDO:0006517|MONDO:0036501 +MONDO:0854998 asph-positive head and neck squamous cell carcinoma NCIT:C162770 MONDO:equivalentTo ASPH-Positive Head and Neck Squamous Cell Carcinoma A head and neck squamous cell carcinoma in which the malignant cells are positive for ASPH gene. MONDO:0010150 +MONDO:0855003 parapharyngeal neoplasm NCIT:C162820 MONDO:equivalentTo Parapharyngeal Neoplasm A benign or malignant neoplasm that affects the parapharyngeal space. MONDO:0021351 +MONDO:0855006 retropharyngeal neoplasm NCIT:C162825 MONDO:equivalentTo Retropharyngeal Neoplasm A benign or malignant neoplasm that affects the retropharyngeal space. MONDO:0021351 +MONDO:0855015 non-invasive cribriform carcinoma NCIT:C162973 MONDO:equivalentTo Non-Invasive Cribriform Carcinoma A carcinoma characterized by the presence of a cribriform architectural pattern. There is no evidence of surrounding stromal invasion by the malignant cells. MONDO:0006176 +MONDO:0855016 malignant brain glioma NCIT:C162993 MONDO:equivalentTo Malignant Brain Glioma A grade 3 or 4 glioma that arises from the brain. This category includes anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligoastrocytoma, anaplastic oligodendroglioma, anaplastic pleomorphic xanthoastrocytoma (all grade 3 gliomas), and glioblastoma (grade 4 glioma). MONDO:0100342|MONDO:0021632|MONDO:0001657 +MONDO:0855028 micropapillary carcinoma NCIT:C164144 MONDO:equivalentTo Micropapillary Carcinoma A carcinoma characterized by the presence of a predominant micropapillary pattern. MONDO:0006509 +MONDO:0855034 aggressive prostate adenocarcinoma NCIT:C164185 MONDO:equivalentTo Aggressive Prostate Adenocarcinoma Prostate adenocarcinoma that metastasizes quickly to other anatomic sites. It usually has a Gleason score between 8 and 10, a PSA level higher than 20 ng/ml, and is classified as T3b or T4. MONDO:0005082 +MONDO:0855035 head and neck sarcoma NCIT:C164198 MONDO:equivalentTo Head and Neck Sarcoma A sarcoma that arises from the head and neck region. MONDO:0005089|MONDO:0005627 +MONDO:0855040 warty carcinoma NCIT:C164248 MONDO:equivalentTo Warty Carcinoma A squamous cell carcinoma characterized by a papillary growth pattern, hyperkeratosis, and koilocytosis. MONDO:0002979 +MONDO:0855041 differentiated intraepithelial neoplasia NCIT:C164249 MONDO:equivalentTo Differentiated Intraepithelial Neoplasia Intraepithelial neoplasia of the penis or vulva. It usually presents as a solitary white or pink macule or plaque that may be slightly elevated. A background of long-standing lichen sclerosus is often present. MONDO:0024474 +MONDO:0855042 human papillomavirus-independent squamous cell carcinoma NCIT:C164250 MONDO:equivalentTo Human Papillomavirus-Independent Squamous Cell Carcinoma A squamous cell carcinoma not associated with human papilloma virus infection. MONDO:0005096 +MONDO:0855043 invasive sarcomatoid urothelial carcinoma NCIT:C164252 MONDO:equivalentTo Invasive Sarcomatoid Urothelial Carcinoma An invasive urothelial carcinoma that exhibits spindle cell sarcomatoid features. MONDO:0040678|MONDO:0002837 +MONDO:0855044 mixed neuroendocrine non-neuroendocrine neoplasm NCIT:C164255 MONDO:equivalentTo Mixed Neuroendocrine Non-Neuroendocrine Neoplasm A rare neoplasm that consists of neuroendocrine and non-neuroendocrine cellular components. At least 30% of either component should be present for the diagnosis to be made. MONDO:0021043|MONDO:0005626 +MONDO:0855047 nf1-associated malignant peripheral nerve sheath tumor NCIT:C164313 MONDO:equivalentTo NF1-Associated Malignant Peripheral Nerve Sheath Tumor A malignant peripheral nerve sheath tumor that is associated with NF1 gene inactivation and a history of neurofibromatosis type 1. MONDO:0017827 +MONDO:0855048 sporadic malignant peripheral nerve sheath tumor NCIT:C164314 MONDO:equivalentTo Sporadic Malignant Peripheral Nerve Sheath Tumor A malignant peripheral nerve sheath tumor that is not caused by inherited genetic mutations. MONDO:0017827 +MONDO:0855049 radiation-induced malignant peripheral nerve sheath tumor NCIT:C164316 MONDO:equivalentTo Radiation-Induced Malignant Peripheral Nerve Sheath Tumor A malignant peripheral nerve sheath tumor that is the result of exposure to ionizing radiation. MONDO:0017827 +MONDO:0855058 soft tissue sarcoma of the trunk and extremities NCIT:C165190 MONDO:equivalentTo Soft Tissue Sarcoma of the Trunk and Extremities A soft tissue sarcoma that arises from the trunk or the extremities. MONDO:0018078 +MONDO:0855059 metastatic malignant mesothelioma NCIT:C165252 MONDO:equivalentTo Metastatic Malignant Mesothelioma Malignant mesothelioma that has spread from its original site of growth to another anatomic site. MONDO:0006292|MONDO:0024880 +MONDO:0855079 skin verrucous carcinoma NCIT:C165465 MONDO:equivalentTo Skin Verrucous Carcinoma A verrucous carcinoma that arises from the skin. It usually affects the palms, soles, and distal digits. MONDO:0002529|MONDO:0006006 +MONDO:0855080 skin squamous cell carcinoma with osteoclast-like giant cells NCIT:C165466 MONDO:equivalentTo Skin Squamous Cell Carcinoma with Osteoclast-Like Giant Cells A rare squamous cell carcinoma of the skin characterized by the presence of multinucleated non-neoplastic giant cells that resemble osteoclasts. MONDO:0002529 +MONDO:0855081 skin lymphoepithelial carcinoma NCIT:C165467 MONDO:equivalentTo Skin Lymphoepithelial Carcinoma A rare, poorly differentiated squamous cell carcinoma of the skin. It is characterized by the presence of tumor cells islands surrounded and infiltrated by lymphocytes and plasma cells. MONDO:0002529|MONDO:0003572 +MONDO:0855082 skin squamous cell carcinoma with sarcomatoid differentiation NCIT:C165468 MONDO:equivalentTo Skin Squamous Cell Carcinoma with Sarcomatoid Differentiation A rare carcinoma of the skin characterized by the presence of squamous cell carcinomatous and sarcomatous components. MONDO:0002529|MONDO:0002928 +MONDO:0855085 lichen planus-like keratosis NCIT:C165485 MONDO:equivalentTo Lichen Planus-Like Keratosis A benign intraepidermal squamoproliferative neoplasm characterized by irregular acanthosis, hyperkeratosis, parakeratosis, and prominent chronic inflammation. MONDO:0002093 +MONDO:0855094 combined nevus NCIT:C165529 MONDO:equivalentTo Combined Nevus A nevus that contains two or more melanocytic nevus components in the same lesion. The cellular components can be any combination of any nevus variants, but most frequently, a common nevus component is combined with a blue nevus, deep penetrating nevus, or Spitz nevus component. (WHO 2018) MONDO:0044794 +MONDO:0855104 proximal gastric adenocarcinoma NCIT:C165628 MONDO:equivalentTo Proximal Gastric Adenocarcinoma A gastric adenocarcinoma that arises from the proximal part of the stomach. MONDO:0005036 +MONDO:0855113 mixed carcinoma NCIT:C165723 MONDO:equivalentTo Mixed Carcinoma A carcinoma characterized by the presence of more than one malignant epithelial histologic pattern. MONDO:0005853|MONDO:0004993 +MONDO:0855116 hormone receptor-negative breast carcinoma NCIT:C165743 MONDO:equivalentTo Hormone Receptor-Negative Breast Carcinoma Breast adenocarcinoma that is negative for hormone receptors. MONDO:0004988 +MONDO:0855127 musculoskeletal neoplasm NCIT:C166354 MONDO:equivalentTo Musculoskeletal Neoplasm A benign, intermediate, or malignant neoplasm that affects muscles and bones. MONDO:0002081|MONDO:0044334 +MONDO:0855132 pancreatobiliary carcinoma NCIT:C166418 MONDO:equivalentTo Pancreatobiliary Carcinoma A carcinoma that arises from the pancreas, bile ducts, gallbladder, or ampulla of Vater. MONDO:0006181 +MONDO:0855139 acute myeloid leukemia with ram immunophenotype NCIT:C167089 MONDO:equivalentTo Acute Myeloid Leukemia with RAM Immunophenotype A high risk pediatric acute myeloid leukemia with an extremely poor prognosis. The blasts show bright CD56 expression, dim-to-negative expression of CD45 and CD38, and lack of HLA-DR expression. This immunophenotype was named after one of the pediatric patient's initials (RAM), from Children's Oncology Group (COG) clinical trial AAML0531. MONDO:0004996 +MONDO:0855140 obesity-related malignant neoplasm NCIT:C167168 MONDO:equivalentTo Obesity-Related Malignant Neoplasm A malignant neoplasm that occurs in the context of obesity. MONDO:0004992 +MONDO:0855143 metastatic primary peritoneal carcinoma NCIT:C167203 MONDO:equivalentTo Metastatic Primary Peritoneal Carcinoma A carcinoma that arises from the peritoneum and has metastasized to another anatomic site. MONDO:0015686|MONDO:0024879 +MONDO:0855150 midgut neuroendocrine tumor NCIT:C167327 MONDO:equivalentTo Midgut Neuroendocrine Tumor A neuroendocrine tumor that arises from the jejunum, ileum, proximal colon, or appendix. MONDO:0000386 +MONDO:0855151 adnexal adenocarcinoma, not otherwise specified NCIT:C167341 MONDO:equivalentTo Adnexal Adenocarcinoma, Not Otherwise Specified An adnexal carcinoma with ductal/glandular differentiation lacking specific histological features that would allow further classification. (WHO 2018) MONDO:0006973|MONDO:0004970 +MONDO:0855152 spiradenocylindroma NCIT:C167342 MONDO:equivalentTo Spiradenocylindroma A benign adnexal neoplasm with histological features of both spiradenoma and cylindroma in a single nodular lesion. MONDO:0021489 +MONDO:0855153 spiradenocylindrocarcinoma NCIT:C167344 MONDO:equivalentTo Spiradenocylindrocarcinoma A carcinoma that arises in a spiradenocylindroma. MONDO:0005524|MONDO:0024878 +MONDO:0855154 malignant mixed tumor of the skin NCIT:C167346 MONDO:equivalentTo Malignant Mixed Tumor of the Skin A rare malignant skin neoplasm that arises from a benign mixed tumor of the skin (chondroid syringoma). MONDO:0002206|MONDO:0005853 +MONDO:0855157 syringocystadenocarcinoma papilliferum NCIT:C167365 MONDO:equivalentTo Syringocystadenocarcinoma Papilliferum A sweat gland carcinoma usually arising from a pre-existing syringocystadenoma papilliferum. MONDO:0005524 +MONDO:0855158 adnexal cribriform carcinoma NCIT:C167366 MONDO:equivalentTo Adnexal Cribriform Carcinoma A rare indolent adnexal carcinoma with a cribriform pattern. MONDO:0006973|MONDO:0006176 +MONDO:0855159 adnexal secretory carcinoma NCIT:C167368 MONDO:equivalentTo Adnexal Secretory Carcinoma A rare adnexal carcinoma that is histopathologically identical to homologous lesions in the salivary gland and breast. (WHO 2018) MONDO:0006973|MONDO:0004970 +MONDO:0855160 signet ring cell/histiocytoid carcinoma NCIT:C167369 MONDO:equivalentTo Signet Ring Cell/Histiocytoid Carcinoma A rare aggressive adnexal carcinoma preferentially affecting the eyelid and histopathologically resembling a metastatic lobular carcinoma of the breast and/or some adenocarcinomas arising in the gastrointestinal tract. (WHO 2018) MONDO:0006973|MONDO:0004970 +MONDO:0855173 resectable glioma NCIT:C168573 MONDO:equivalentTo Resectable Glioma A glioma that is amenable to surgical resection. MONDO:0021042 +MONDO:0855181 phyllodes tumor of anogenital mammary-type glands NCIT:C168602 MONDO:equivalentTo Phyllodes Tumor of Anogenital Mammary-Type Glands A rare phyllodes tumor that arises from mammary-like glands in the anogenital region. MONDO:0005078 +MONDO:0855182 metastatic malignant neoplasm in the digestive system NCIT:C168669 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Digestive System A malignant neoplasm that has spread to the digestive system from another anatomic site. MONDO:0024880|MONDO:0002516 +MONDO:0855187 unresectable round cell liposarcoma NCIT:C168724 MONDO:equivalentTo Unresectable Round Cell Liposarcoma A round cell liposarcoma that is not amenable to surgical resection. MONDO:0005238 +MONDO:0855221 skin soft tissue neoplasm NCIT:C169100 MONDO:equivalentTo Skin Soft Tissue Neoplasm A mesenchymal neoplasm that arises from the skin. MONDO:0006424|MONDO:0002531 +MONDO:0855230 metastatic malignant head and neck neoplasm NCIT:C170467 MONDO:equivalentTo Metastatic Malignant Head and Neck Neoplasm A malignant neoplasm that arises from the head and neck region and has spread to another anatomic site. MONDO:0005627|MONDO:0024880 +MONDO:0855232 skin pleomorphic liposarcoma NCIT:C170473 MONDO:equivalentTo Skin Pleomorphic Liposarcoma A rare pleomorphic liposarcoma arising from the skin. MONDO:0003600|MONDO:0020562 +MONDO:0855235 skin angiolipoma NCIT:C170478 MONDO:equivalentTo Skin Angiolipoma An angiolipoma arising from the skin. MONDO:0000964|MONDO:0006085 +MONDO:0855238 benign periampullary neoplasm NCIT:C170725 MONDO:equivalentTo Benign Periampullary Neoplasm A neoplasm that arises from the periampullary region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.. MONDO:0006734 +MONDO:0855241 metastatic malignant breast neoplasm NCIT:C170728 MONDO:equivalentTo Metastatic Malignant Breast Neoplasm A malignant breast neoplasm that has metastasized to another anatomic site. MONDO:0007254|MONDO:0024880 +MONDO:0855243 primary peritoneal adenocarcinoma NCIT:C170733 MONDO:equivalentTo Primary Peritoneal Adenocarcinoma A rare adenocarcinoma that arises from the lining of the peritoneum. MONDO:0015686|MONDO:0004970 +MONDO:0855244 appendix mucinous neoplasm NCIT:C170734 MONDO:equivalentTo Appendix Mucinous Neoplasm An appendiceal neoplasm characterized by mucinous epithelial proliferation with extracellular mucin and pushing tumour margins. (WHO 2019) MONDO:0024338|MONDO:0001236 +MONDO:0855245 pleomorphic fibroma NCIT:C170736 MONDO:equivalentTo Pleomorphic Fibroma A benign, often polypoid, fibroblastic neoplasm characterized by bizarre pleomorphic cells. (WHO 2018) MONDO:0005167 +MONDO:0855249 non-muscle invasive bladder urothelial carcinoma NCIT:C170772 MONDO:equivalentTo Non-Muscle Invasive Bladder Urothelial Carcinoma An infiltrating urothelial carcinoma of the bladder that has not invaded into the bladder muscularis propria. MONDO:0003890|MONDO:0004200 +MONDO:0855250 alveolar ridge squamous cell carcinoma NCIT:C170774 MONDO:equivalentTo Alveolar Ridge Squamous Cell Carcinoma Squamous cell carcinoma arising from the upper or lower alveolar ridge. MONDO:0004958 +MONDO:0855252 metastatic malignant skin neoplasm NCIT:C170811 MONDO:equivalentTo Metastatic Malignant Skin Neoplasm A malignant neoplasm of the skin that has spread to other anatomic sites. MONDO:0024880|MONDO:0002898 +MONDO:0855256 metastatic rhabdoid tumor NCIT:C170828 MONDO:equivalentTo Metastatic Rhabdoid Tumor A rhabdoid tumor that has spread from the original site of growth to another anatomic site. MONDO:0002728|MONDO:0024880 +MONDO:0855262 malignant jejunal neoplasm NCIT:C170919 MONDO:equivalentTo Malignant Jejunal Neoplasm A primary or metastatic malignant neoplasm that affects the jejunum. MONDO:0002564|MONDO:0000956 +MONDO:0855263 metastatic carcinosarcoma NCIT:C170924 MONDO:equivalentTo Metastatic Carcinosarcoma Carcinosarcoma that has spread from its original site of growth to another anatomic site. MONDO:0024880|MONDO:0002928 +MONDO:0855266 malignant fundus neoplasm NCIT:C170940 MONDO:equivalentTo Malignant Fundus Neoplasm A primary or metastatic malignant neoplasm that affects the gastric fundus. MONDO:0001056 +MONDO:0855281 human papillomavirus-related mucosal head and neck squamous cell carcinoma NCIT:C171023 MONDO:equivalentTo Human Papillomavirus-Related Mucosal Head and Neck Squamous Cell Carcinoma A squamous cell carcinoma associated with human papilloma virus, arising from the mucosal sites of head and neck. MONDO:0020657|MONDO:0010150 +MONDO:0855283 ovarian neuroendocrine carcinoma NCIT:C171032 MONDO:equivalentTo Ovarian Neuroendocrine Carcinoma A small cell carcinoma, pulmonary-type or large cell neuroendocrine carcinoma arising from the ovary. MONDO:0002481|MONDO:0005140 +MONDO:0855284 endometrial neuroendocrine carcinoma NCIT:C171033 MONDO:equivalentTo Endometrial Neuroendocrine Carcinoma A small cell or large cell neuroendocrine carcinoma arising from the endometrium. MONDO:0002447|MONDO:0021650 +MONDO:0855285 mediastinal non-hodgkin lymphoma NCIT:C171037 MONDO:equivalentTo Mediastinal Non-Hodgkin Lymphoma Non-Hodgkin lymphoma arising from the mediastinum. MONDO:0004021|MONDO:0018908 +MONDO:0855297 oligometastatic prostate carcinoma NCIT:C171265 MONDO:equivalentTo Oligometastatic Prostate Carcinoma Prostate carcinoma that has metastasized to a limited number of sites. MONDO:0004956 +MONDO:0855330 acute myeloid leukemia arising from previous myeloproliferative neoplasm NCIT:C172129 MONDO:equivalentTo Acute Myeloid Leukemia Arising from Previous Myeloproliferative Neoplasm An acute myeloid leukemia developing in patients with a prior history of myeloproliferative neoplasm. MONDO:0019457 +MONDO:0855331 acute myeloid leukemia arising from previous myelodysplastic/myeloproliferative neoplasm NCIT:C172130 MONDO:equivalentTo Acute Myeloid Leukemia Arising from Previous Myelodysplastic/Myeloproliferative Neoplasm An acute myeloid leukemia developing in patients with a prior history of myelodysplastic/myeloproliferative neoplasm. MONDO:0019457 +MONDO:0855335 progesterone receptor-positive malignant neoplasm NCIT:C172183 MONDO:equivalentTo Progesterone Receptor-Positive Malignant Neoplasm A malignant neoplasm that is positive for progesterone receptors. MONDO:0004992 +MONDO:0855336 sinusoidal hemangioma NCIT:C172206 MONDO:equivalentTo Sinusoidal Hemangioma A rare hemangioma occurring mainly in middle-aged adults. The most common location is in the trunk. The lesions are small, asymptomatic, and bluish. They are composed of irregular, dilated, congested thin-walled vascular channels with scant smooth muscle in a sinusoidal or sieve-like pattern. (WHO 2018) MONDO:0006557 +MONDO:0855346 refractory myeloid neoplasm NCIT:C172281 MONDO:equivalentTo Refractory Myeloid Neoplasm A myeloid neoplasm that does not respond to treatment. MONDO:0005170|MONDO:0004111 +MONDO:0855368 skin ewing sarcoma NCIT:C172634 MONDO:equivalentTo Skin Ewing Sarcoma A rare Ewing sarcoma that arises from the skin. MONDO:0018270|MONDO:0006414 +MONDO:0855377 oxyntic gland adenoma NCIT:C172655 MONDO:equivalentTo Oxyntic Gland Adenoma A benign epithelial neoplasm composed of columnar cells with differentiation to chief cells, parietal cells, or both, with a high rate of progression to adenocarcinoma (submucosal invasion). (WHO 2019) MONDO:0006221 +MONDO:0855378 gastroblastoma NCIT:C172659 MONDO:equivalentTo Gastroblastoma A very rare biphasic tumor arising in the gastric muscularis propria (usually of the antrum), generally in boys and young men. It is associated with MALAT1-GLI1 gene fusion. (WHO 2019) MONDO:0001056 +MONDO:0855386 colorectal conventional adenoma NCIT:C172680 MONDO:equivalentTo Colorectal Conventional Adenoma "A benign, premalignant colorectal neoplasm composed of dysplastic epithelium. The descriptor ""conventional"" distinguishes this from lesions in the serrated pathway. (WHO 2019)" MONDO:0005484 +MONDO:0855389 colorectal poorly cohesive adenocarcinoma NCIT:C172694 MONDO:equivalentTo Colorectal Poorly Cohesive Adenocarcinoma An adenocarcinoma that arises from the colorectal mucosa and is characterized by the presence of isolated malignant cells or malignant cells that form small aggregates. MONDO:0005008 +MONDO:0855390 colorectal adenoma-like adenocarcinoma NCIT:C172699 MONDO:equivalentTo Colorectal Adenoma-Like Adenocarcinoma A well differentiated colorectal adenocarcinoma with good prognosis. It resembles a villous adenoma on the surface. MONDO:0005008|MONDO:0003204 +MONDO:0855391 inflammatory bowel disease-associated colorectal adenocarcinoma NCIT:C172700 MONDO:equivalentTo Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma A colorectal adenocarcinoma that develops in patients with a history of inflammatory bowel disease. MONDO:0005008 +MONDO:0855393 steatohepatitic hepatocellular carcinoma NCIT:C172709 MONDO:equivalentTo Steatohepatitic Hepatocellular Carcinoma Hepatocellular carcinoma characterized by the presence of steatohepatitis features, including macrovesicular steatosis, fibrosis, ballooning of malignant hepatocytes, Mallory bodies, and inflammation. MONDO:0007256 +MONDO:0855394 macrotrabecular massive hepatocellular carcinoma NCIT:C172710 MONDO:equivalentTo Macrotrabecular Massive Hepatocellular Carcinoma Hepatocellular carcinoma characterized by more than 50% growth of macrotrabecular pattern (equal to or more than 6 to 10 cells thick). It presents with higher grade and stage compared to conventional hepatocellular carcinoma. It has poor prognosis with early recurrence and poor overall survival. MONDO:0007256 +MONDO:0855395 chromophobe hepatocellular carcinoma NCIT:C172712 MONDO:equivalentTo Chromophobe Hepatocellular Carcinoma Hepatocellular carcinoma characterized by the presence of malignant cells with smooth chromophobic cytoplasm, abrupt focal nuclear anaplasia, and scattered microscopic pseudocysts. MONDO:0007256 +MONDO:0855396 neutrophil-rich hepatocellular carcinoma NCIT:C172713 MONDO:equivalentTo Neutrophil-Rich Hepatocellular Carcinoma Hepatocellular carcinoma characterized by the presence of diffuse neutrophil infiltrates within the tumor. MONDO:0007256 +MONDO:0855397 small hepatocellular carcinoma NCIT:C172714 MONDO:equivalentTo Small Hepatocellular Carcinoma Hepatocellular carcinoma measuring equal to or less than 2 cm in diameter. It includes early hepatocellular carcinoma and small progressed hepatocellular carcinoma. MONDO:0007256 +MONDO:0855398 liver mixed adenoneuroendocrine carcinoma NCIT:C172718 MONDO:equivalentTo Liver Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the liver and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0006182|MONDO:0018531 +MONDO:0855401 gallbladder pyloric gland adenoma NCIT:C172731 MONDO:equivalentTo Gallbladder Pyloric Gland Adenoma A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019) MONDO:0006216 +MONDO:0855408 pancreatic poorly cohesive adenocarcinoma NCIT:C172811 MONDO:equivalentTo Pancreatic Poorly Cohesive Adenocarcinoma An adenocarcinoma that arises from the pancreas and is characterized by the presence of isolated malignant cells or malignant cells that form small aggregates. MONDO:0005184 +MONDO:0855409 pancreatic undifferentiated carcinoma with rhabdoid cells NCIT:C172812 MONDO:equivalentTo Pancreatic Undifferentiated Carcinoma with Rhabdoid Cells An undifferentiated carcinoma that arises from the pancreas. It is characterized by the presence of rhabdoid cells. MONDO:0006478 +MONDO:0855413 conventional follicular dendritic cell sarcoma NCIT:C172846 MONDO:equivalentTo Conventional Follicular Dendritic Cell Sarcoma Follicular dendritic cell sarcoma that is not associated with Epstein-Barr virus. MONDO:0005764 +MONDO:0855418 digestive system soft tissue neoplasm NCIT:C172852 MONDO:equivalentTo Digestive System Soft Tissue Neoplasm A benign, intermediate, or malignant mesenchymal neoplasm that arises from the digestive system. MONDO:0006424|MONDO:0021223 +MONDO:0855432 sinonasal spindle cell squamous carcinoma NCIT:C173079 MONDO:equivalentTo Sinonasal Spindle Cell Squamous Carcinoma A poorly differentiated squamous cell carcinoma arising from the sinonasal tract. It is characterized by the presence of malignant cells with spindle cell features. MONDO:0021663|MONDO:0044787 +MONDO:0855433 sinonasal lymphoepithelial carcinoma NCIT:C173080 MONDO:equivalentTo Sinonasal Lymphoepithelial Carcinoma A nonkeratinizing squamous cell carcinoma arising from the sinonasal tract. It is characterized by the presence of large cells with vesicular nuclei and prominent nucleoli, a syncytial growth pattern, and a lymphoplasmacytic infiltrate. MONDO:0002831|MONDO:0003572 +MONDO:0855435 head and neck nut carcinoma NCIT:C173087 MONDO:equivalentTo Head and Neck NUT Carcinoma A highly aggressive, poorly differentiated carcinoma that arises from the head and neck. Most cases are in the nasal cavity and paranasal sinuses. It is characterized by mutations and rearrangement of the NUT gene. MONDO:0005563|MONDO:0002038 +MONDO:0855439 malignant sinonasal neoplasm NCIT:C173097 MONDO:equivalentTo Malignant Sinonasal Neoplasm A primary or metastatic malignant neoplasm involving the nasal cavity and paranasal sinuses. MONDO:0056820|MONDO:0005627 +MONDO:0855471 peritoneal implant NCIT:C173164 MONDO:equivalentTo Peritoneal Implant Deposits of borderline, malignant, and rarely benign tumors, usually from the ovary, on the peritoneal surface. MONDO:0006901 +MONDO:0855472 sinonasal ameloblastoma NCIT:C173166 MONDO:equivalentTo Sinonasal Ameloblastoma A locally aggressive, primarily gnathic (jaw) tumor with a high propensity for recurrence. It originates wholly within the sinonasal tract, without connection to gnathic sites, arising from sinonasal epithelium and showing histological features identical to those of its counterpart originating in the jaw. (WHO 2017) MONDO:0056820 +MONDO:0855481 microsatellite stable colorectal carcinoma NCIT:C173324 MONDO:equivalentTo Microsatellite Stable Colorectal Carcinoma Colorectal carcinoma characterized by the absence of microsatellite instability. MONDO:0024331 +MONDO:0855487 nasopharyngeal adenoid cystic carcinoma NCIT:C173340 MONDO:equivalentTo Nasopharyngeal Adenoid Cystic Carcinoma An adenoid cystic carcinoma that arises from the nasopharynx. MONDO:0006367|MONDO:0015459 +MONDO:0855489 ectopic pituitary neuroendocrine tumor NCIT:C173345 MONDO:equivalentTo Ectopic Pituitary Neuroendocrine Tumor A pituitary neuroendocrine tumor that does not involve the sella turcica. MONDO:0006373 +MONDO:0855495 cutaneous merkel cell carcinoma NCIT:C173385 MONDO:equivalentTo Cutaneous Merkel Cell Carcinoma A rare aggressive neuroendocrine carcinoma that arises from the skin and most often affects older individuals. It is usually located in the head, neck, and extremities. The tumor is composed of small round cells with scanty cytoplasm. Merkel cell polyomavirus is implicated in the majority of cases. MONDO:0002656|MONDO:0019210 +MONDO:0855506 laryngeal chondroma NCIT:C173406 MONDO:equivalentTo Laryngeal Chondroma A benign neoplasm arising from hyaline cartilage of the larynx. It is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. MONDO:0002360|MONDO:0002354 +MONDO:0855507 laryngeal chondrosarcoma NCIT:C173407 MONDO:equivalentTo Laryngeal Chondrosarcoma A chondrosarcoma that arises from hyaline cartilage of the larynx. MONDO:0002448|MONDO:0008977 +MONDO:0855526 head and neck melanocytic neoplasm NCIT:C173488 MONDO:equivalentTo Head and Neck Melanocytic Neoplasm A melanocytic neoplasm that arises from the skin or mucosal sites in the head and neck region. MONDO:0021143|MONDO:0005586 +MONDO:0855532 refractory primitive neuroectodermal tumor NCIT:C173565 MONDO:equivalentTo Refractory Primitive Neuroectodermal Tumor Primitive neuroectodermal tumor that does not respond to treatment. MONDO:0005462|MONDO:0036501 +MONDO:0855540 head and neck heterotopia-associated carcinoma NCIT:C173588 MONDO:equivalentTo Head and Neck Heterotopia-Associated Carcinoma A head and neck carcinoma arising from heterotopic tissue elements (i.e. histologically normal tissue of a particular type that is present at an abnormal anatomical site). (WHO 2017) MONDO:0002038 +MONDO:0855551 salivary gland poorly differentiated carcinoma NCIT:C173649 MONDO:equivalentTo Salivary Gland Poorly Differentiated Carcinoma A high-grade carcinoma that arises from the salivary glands. This category includes large and small cell types with or without neuroendocrine differentiation. MONDO:0000521 +MONDO:0855553 salivary gland lymphadenoma NCIT:C173659 MONDO:equivalentTo Salivary Gland Lymphadenoma A rare benign salivary gland tumor that consists of a well-circumscribed biphasic proliferation of epithelial cells and reactive lymphoid tissue. Sebaceous and non-sebaceous forms can be distinguished. (WHO 2017) MONDO:0021460 +MONDO:0855558 sialolipoma NCIT:C173682 MONDO:equivalentTo Sialolipoma A benign salivary gland neoplasm composed of mature adipose tissue and epithelial tissue. It usually occurs in the parotid gland. MONDO:0021460 +MONDO:0855575 appendix disorder NCIT:C173799 MONDO:equivalentTo Appendix Disorder A non-neoplastic or neoplastic disorder that affects the appendix. +MONDO:0855576 retroperitoneal undifferentiated pleomorphic sarcoma NCIT:C173808 MONDO:equivalentTo Retroperitoneal Undifferentiated Pleomorphic Sarcoma A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum. MONDO:0001501|MONDO:0002142 +MONDO:0855577 lung alveolar soft part sarcoma NCIT:C173809 MONDO:equivalentTo Lung Alveolar Soft Part Sarcoma An exceptionally rare alveolar soft part sarcoma that arises from the lung. MONDO:0002426|MONDO:0011655 +MONDO:0855584 maxillofacial neoplasm NCIT:C173845 MONDO:equivalentTo Maxillofacial Neoplasm A neoplasm that arises in a maxillofacial bone. MONDO:0019060|MONDO:0024653 +MONDO:0855590 craniofacial fibrous dysplasia NCIT:C173926 MONDO:equivalentTo Craniofacial Fibrous Dysplasia Fibrous dysplasia affecting the craniofacial bones. MONDO:0000845 +MONDO:0855591 benign head and neck neoplasm NCIT:C173932 MONDO:equivalentTo Benign Head and Neck Neoplasm A neoplasm that arises from the head and neck and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0005165|MONDO:0005586 +MONDO:0855593 aggressive papillary tumor NCIT:C174022 MONDO:equivalentTo Aggressive Papillary Tumor A locally invasive, papillary epithelial neoplasm arising in any area of the middle ear, including the mastoid process and air cells, and may fill the tympanic cavity. It is characterized by the presence of a papillary glandular pattern, with complex interdigitating papillae lying loosely or infiltrating fibrous connective tissue. (WHO 2017) MONDO:0021366|MONDO:0021096 +MONDO:0855594 benign inner ear neoplasm NCIT:C174023 MONDO:equivalentTo Benign Inner Ear Neoplasm A neoplasm that arises from the inner ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include vestibular schwannoma and lipoma. MONDO:0021474|MONDO:0024320 +MONDO:0855597 malignant inner ear neoplasm NCIT:C174026 MONDO:equivalentTo Malignant Inner Ear Neoplasm A malignant neoplasm that affects the inner ear. MONDO:0003277|MONDO:0024320 +MONDO:0855616 conjunctival oncocytoma NCIT:C174388 MONDO:equivalentTo Conjunctival Oncocytoma A benign epithelial neoplasm that arises from the conjunctiva. It is characterized by the presence of oncocytic cells with abundant eosinophilic and granular cytoplasm. MONDO:0010795|MONDO:0006105 +MONDO:0855617 conjunctival keratoacanthoma NCIT:C174390 MONDO:equivalentTo Conjunctival Keratoacanthoma A rapidly growing neoplasm that arises from the conjunctiva. It is characterized by a proliferation of squamous cells, acanthosis, keratinization, dysplasia, increased mitotic activity, and a central crater filled with keratinocytes. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. MONDO:0006173|MONDO:0002527 +MONDO:0855618 conjunctival spindle cell carcinoma NCIT:C174398 MONDO:equivalentTo Conjunctival Spindle Cell Carcinoma A variant of conjunctival squamous cell carcinoma characterized by the presence of malignant spindle cells and/or pleomorphic cells. MONDO:0006173|MONDO:0021663 +MONDO:0855620 conjunctival carcinoma NCIT:C174403 MONDO:equivalentTo Conjunctival Carcinoma A carcinoma that arises from the conjunctiva. MONDO:0002466|MONDO:0003454 +MONDO:0855625 conjunctival subepithelial (stromal) nevus NCIT:C174426 MONDO:equivalentTo Conjunctival Subepithelial (Stromal) Nevus A conjunctival nevus characterized by an intrastromal proliferation of predominantly type B nevus cells. MONDO:0006172 +MONDO:0855630 conjunctival blue nevus NCIT:C174452 MONDO:equivalentTo Conjunctival Blue Nevus A benign melanocytic neoplasm that arises from the conjunctiva. It is characterized by the presence of dendritic and spindle-shaped melanocytes in the subepithelial connective tissue. It presents as a dark brown or black, slightly elevated conjunctival lesion. MONDO:0006172 +MONDO:0855631 atypical ewing sarcoma NCIT:C174456 MONDO:equivalentTo Atypical Ewing Sarcoma Ewing sarcoma characterized by the presence of large malignant cells with prominent nucleoli and irregular contours. MONDO:0012817 +MONDO:0855633 conjunctival spitz nevus NCIT:C174493 MONDO:equivalentTo Conjunctival Spitz Nevus A rare nevus that arises from the conjunctiva. It is characterized by the presence of large spindle-shaped or epithelioid melanocytes. MONDO:0006172 +MONDO:0855634 metastatic malignant neoplasm in the conjunctiva NCIT:C174496 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Conjunctiva A malignant neoplasm that has spread to the conjunctiva from another anatomic site. MONDO:0044913|MONDO:0003454 +MONDO:0855635 iris epithelioid cell melanoma NCIT:C174498 MONDO:equivalentTo Iris Epithelioid Cell Melanoma An iris melanoma characterized by the presence of malignant large epithelioid melanocytes. MONDO:0004064|MONDO:0006200 +MONDO:0855640 iris mixed epithelioid and spindle cell melanoma NCIT:C174506 MONDO:equivalentTo Iris Mixed Epithelioid and Spindle Cell Melanoma A melanoma arising from the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. MONDO:0004064|MONDO:0003910 +MONDO:0855641 metastatic malignant neoplasm in the uvea NCIT:C174507 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Uvea A malignant neoplasm that has spread to the uvea from another anatomic site. MONDO:0002659|MONDO:0044913 +MONDO:0855646 retinal astrocytoma NCIT:C174539 MONDO:equivalentTo Retinal Astrocytoma An astrocytoma that arises from the retina. It is often found in association with the tuberous sclerosis complex. MONDO:0021231|MONDO:0024649 +MONDO:0855649 adenoma of the retinal pigment epithelium NCIT:C174550 MONDO:equivalentTo Adenoma of the Retinal Pigment Epithelium A benign neoplasm that arises from the retinal pigment epithelium. It consists of cords and tubules of variably pigmented proliferating retinal pigment epithelium cells, separated by fibrous stroma. Malignant transformation is rare. (WHO 2018) MONDO:0021453|MONDO:0004972 +MONDO:0855650 retinal pigment epithelium adenocarcinoma NCIT:C174551 MONDO:equivalentTo Retinal Pigment Epithelium Adenocarcinoma An adenocarcinoma that arises from the retinal pigment epithelium. The prognosis is good if the tumor has not extended extraocularly. MONDO:0002466|MONDO:0003072|MONDO:0004970 +MONDO:0855653 ciliary body adenoma NCIT:C174560 MONDO:equivalentTo Ciliary Body Adenoma A benign neoplasm of the pigmented ciliary epithelium (pigmented epithelial adenoma) and/ or the non-pigmented ciliary epithelium (non-pigmented epithelial adenoma). (WHO 2018) MONDO:0021486|MONDO:0004972 +MONDO:0855654 ciliary body adenocarcinoma NCIT:C174561 MONDO:equivalentTo Ciliary Body Adenocarcinoma An adenocarcinoma arising from the pigmented or non-pigmented ciliary epithelium. MONDO:0002466|MONDO:0002969|MONDO:0004970 +MONDO:0855667 incidental gallbladder carcinoma NCIT:C175214 MONDO:equivalentTo Incidental Gallbladder Carcinoma Gallbladder carcinoma that is discovered incidental to gallbladder surgery for another indication. MONDO:0003220 +MONDO:0855668 metastatic malignant neoplasm in the regional lymph nodes NCIT:C175222 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Regional Lymph Nodes The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes. MONDO:0005438 +MONDO:0855669 lacrimal gland oncocytoma NCIT:C175264 MONDO:equivalentTo Lacrimal Gland Oncocytoma A benign epithelial neoplasm that arises from the lacrimal gland. It is characterized by the presence of oncocytic cells with abundant eosinophilic and granular cytoplasm. MONDO:0010795|MONDO:0021488 +MONDO:0855671 lacrimal gland myoepithelial carcinoma NCIT:C175274 MONDO:equivalentTo Lacrimal Gland Myoepithelial Carcinoma A carcinoma that arises from the lacrimal gland. It is characterized by the presence of a malignant cellular infiltrate exhibiting myoepithelial differentiation. MONDO:0003158|MONDO:0002463 +MONDO:0855672 lacrimal gland carcinosarcoma NCIT:C175279 MONDO:equivalentTo Lacrimal Gland Carcinosarcoma An aggressive, high grade malignant neoplasm that arises from the lacrimal gland. It is characterized by the presence of a malignant epithelial and a sarcomatous component. MONDO:0002464|MONDO:0002928 +MONDO:0855673 lacrimal gland epithelial-myoepithelial carcinoma NCIT:C175288 MONDO:equivalentTo Lacrimal Gland Epithelial-Myoepithelial Carcinoma A rare, slow-growing carcinoma that arises from the lacrimal gland. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells. MONDO:0002463|MONDO:0003389 +MONDO:0855674 lacrimal gland acinic cell carcinoma NCIT:C175290 MONDO:equivalentTo Lacrimal Gland Acinic Cell Carcinoma An extremely rare, low-grade, salivary gland-type carcinoma that arises from the lacrimal gland. It exhibits acinar differentiation. MONDO:0002475|MONDO:0004965 +MONDO:0855675 lacrimal gland warthin tumor NCIT:C175291 MONDO:equivalentTo Lacrimal Gland Warthin Tumor A rare benign tumor that arises from the lacrimal gland. It is characterized by an oncocytic epithelial component and dense lymphoid stroma. MONDO:0021488|MONDO:0006493 +MONDO:0855677 benign lacrimal system neoplasm NCIT:C175307 MONDO:equivalentTo Benign Lacrimal System Neoplasm A neoplasm that arises from the lacrimal gland or lacrimal drainage system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0002460|MONDO:0021454 +MONDO:0855678 malignant lacrimal system neoplasm NCIT:C175308 MONDO:equivalentTo Malignant Lacrimal System Neoplasm A primary or metastatic malignant neoplasm affecting the lacrimal gland or the lacrimal drainage system. MONDO:0002460|MONDO:0002236 +MONDO:0855679 lacrimal drainage system neoplasm NCIT:C175316 MONDO:equivalentTo Lacrimal Drainage System Neoplasm A benign or malignant neoplasm that affects the lacrimal drainage system. MONDO:0002460 +MONDO:0855684 lacrimal drainage system non-keratinizing squamous cell carcinoma NCIT:C175335 MONDO:equivalentTo Lacrimal Drainage System Non-Keratinizing Squamous Cell Carcinoma A squamous cell carcinoma of the lacrimal drainage system characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. MONDO:0003492 +MONDO:0855694 conjunctival non-hodgkin lymphoma NCIT:C175432 MONDO:equivalentTo Conjunctival Non-Hodgkin Lymphoma A non-Hodgkin lymphoma that arises from the conjunctiva. MONDO:0004034|MONDO:0003454 +MONDO:0855700 primary uveal non-hodgkin lymphoma NCIT:C175451 MONDO:equivalentTo Primary Uveal Non-Hodgkin Lymphoma An indolent, low-grade B-cell non-Hodgkin lymphoma that arises from the choroid, iris, or ciliary body. It is characterized by the presence of a diffuse infiltrate of small, round lymphocytes. Lymphoid follicles with germinal centers may be present. In the past these tumors were termed 'reactive lymphoid hyperplasia'. Now they are considered low-grade B-cell lymphomas, most commonly extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue. MONDO:0004351|MONDO:0002659|MONDO:0017594 +MONDO:0855708 conjunctival myxoma NCIT:C175495 MONDO:equivalentTo Conjunctival Myxoma A rare myxoma arising from the bulbar conjunctiva. MONDO:0044784|MONDO:0006105 +MONDO:0855710 conjunctival hemangioma NCIT:C175497 MONDO:equivalentTo Conjunctival Hemangioma A hemangioma that arises from the conjunctiva. MONDO:0006105|MONDO:0006500 +MONDO:0855711 conjunctival lymphangioma NCIT:C175498 MONDO:equivalentTo Conjunctival Lymphangioma A lymphangioma that arises from the conjunctiva. MONDO:0002013|MONDO:0006105 +MONDO:0855715 conjunctival sarcoma NCIT:C175502 MONDO:equivalentTo Conjunctival Sarcoma A sarcoma that arises from the conjunctiva. MONDO:0018078|MONDO:0003454 +MONDO:0855718 malignant hypothalamic neoplasm NCIT:C175539 MONDO:equivalentTo Malignant Hypothalamic Neoplasm A primary or metastatic malignant neoplasm that affects the hypothalamus. MONDO:0002786|MONDO:0006799 +MONDO:0855721 breast polymorphous adenocarcinoma NCIT:C175604 MONDO:equivalentTo Breast Polymorphous Adenocarcinoma A rare, low grade malignant epithelial neoplasm arising from the breast. It is characterized by the presence of uniform, small to medium size malignant epithelial cells and an infiltrating pattern. MONDO:0006256 +MONDO:0855722 breast tall cell carcinoma with reversed polarity NCIT:C175607 MONDO:equivalentTo Breast Tall Cell Carcinoma with Reversed Polarity A rare subtype of invasive breast carcinoma characterized by tall columnar cells with reversed nuclear polarity, arranged in solid and solid papillary patterns, most commonly associated with IDH2 p.Arg172 hotspot mutations. (WHO 2019) MONDO:0006256 +MONDO:0855725 metastatic malignant glomus tumor NCIT:C175662 MONDO:equivalentTo Metastatic Malignant Glomus Tumor A malignant glomus tumor that has spread from its original site of growth to another anatomic site. MONDO:0003340|MONDO:0024880 +MONDO:0855727 locally invasive desmoid-type fibromatosis NCIT:C175667 MONDO:equivalentTo Locally Invasive Desmoid-Type Fibromatosis Desmoid-type fibromatosis that has invaded the surrounding tissues. MONDO:0007608 +MONDO:0855734 metastatic malignant neoplasm in the supraclavicular lymph nodes NCIT:C175934 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Supraclavicular Lymph Nodes The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes. MONDO:0005438 +MONDO:0855737 breast classic lobular carcinoma in situ NCIT:C175949 MONDO:equivalentTo Breast Classic Lobular Carcinoma In Situ Breast lobular carcinoma in situ characterized by the presence of dyscohesive proliferations of type A and/or type B epithelial cells. Type A cells are small cells with uniform hyperchromatic nuclei, whereas type B cells have slightly larger vesicular nuclei, with mild variability in size and shape and with small nucleoli. The cell populations may be mixed in individual proliferations. (WHO 2019) MONDO:0006270 +MONDO:0855738 breast florid lobular carcinoma in situ NCIT:C175950 MONDO:equivalentTo Breast Florid Lobular Carcinoma In Situ Breast lobular carcinoma in situ characterized by the presence of neoplastic cells with cytological features identical to classic lobular carcinoma in situ, but with marked distention of terminal ductal lobular units or ducts. MONDO:0006270 +MONDO:0855740 breast ductal carcinoma in situ, comedo type NCIT:C176005 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Comedo Type Breast ductal carcinoma in situ characterized by the presence of sheets of tumor cells with evidence of central necrosis and associated karyorrhectic/nuclear debris. MONDO:0003575|MONDO:0005023 +MONDO:0855747 ocular surface squamous neoplasia NCIT:C176043 MONDO:equivalentTo Ocular Surface Squamous Neoplasia An umbrella term that comprises the spectrum of squamous neoplasms of the conjunctiva, ranging from low-grade squamous intraepithelial neoplasia to invasive conjunctival squamous cell carcinoma. MONDO:0020204 +MONDO:0855748 breast cellular fibroadenoma NCIT:C176045 MONDO:equivalentTo Breast Cellular Fibroadenoma A fibroadenoma characterized by the presence of a pericanalicular growth pattern, increased stromal cellularity, and less than 2 mitoses per 10 high-power fields. MONDO:0002056 +MONDO:0855749 primary breast angiosarcoma NCIT:C176251 MONDO:equivalentTo Primary Breast Angiosarcoma An angiosarcoma that arises from the breast parenchyma and is not associated with radiation exposure. MONDO:0003024 +MONDO:0855751 breast angiolipoma NCIT:C176255 MONDO:equivalentTo Breast Angiolipoma An angiolipoma that arises from the breast. The majority are located in the subcutaneous tissue overlying the breast parenchyma, rather than in breast parenchyma. MONDO:0000970|MONDO:0006085 +MONDO:0855753 breast schwannoma NCIT:C176414 MONDO:equivalentTo Breast Schwannoma A schwannoma that arises from the breast. MONDO:0000620|MONDO:0004820 +MONDO:0855754 breast neurofibroma NCIT:C176415 MONDO:equivalentTo Breast Neurofibroma A neurofibroma that arises from the breast. MONDO:0000620|MONDO:0016755 +MONDO:0855756 synovial chondrosarcoma NCIT:C176467 MONDO:equivalentTo Synovial Chondrosarcoma An extremely rare chondrosarcoma arising from the synovium either as a de novo neoplasm or secondary to synovial chondromatosis. MONDO:0018078|MONDO:0002403|MONDO:0008977 +MONDO:0855757 male breast carcinoma in situ NCIT:C176503 MONDO:equivalentTo Male Breast Carcinoma In Situ A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the male breast. It includes the entire spectrum of carcinoma in situ observed in the female breast. It usually develops in the retroareolar region. MONDO:0005628|MONDO:0004658 +MONDO:0855758 invasive male breast carcinoma NCIT:C176504 MONDO:equivalentTo Invasive Male Breast Carcinoma A rare invasive carcinoma that arises from the male breast. Morphologically, it is similar to the invasive carcinomas that arise from the female breast. It usually develops in the retroareolar region. MONDO:0006256|MONDO:0005628 +MONDO:0855763 invasive female breast carcinoma NCIT:C176579 MONDO:equivalentTo Invasive Female Breast Carcinoma An invasive carcinoma that arises from the breast in females. MONDO:0006256|MONDO:0004379 +MONDO:0855764 female breast carcinoma in situ NCIT:C176580 MONDO:equivalentTo Female Breast Carcinoma In Situ A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the female breast. MONDO:0004658|MONDO:0004379 +MONDO:0855783 functioning lung neuroendocrine tumor NCIT:C176705 MONDO:equivalentTo Functioning Lung Neuroendocrine Tumor A lung neuroendocrine tumor that is associated with carcinoid syndrome. MONDO:0021120|MONDO:0006041 +MONDO:0855784 non-functioning lung neuroendocrine tumor NCIT:C176706 MONDO:equivalentTo Non-Functioning Lung Neuroendocrine Tumor A lung neuroendocrine tumor that is not associated with carcinoid syndrome. MONDO:0021119|MONDO:0006041 +MONDO:0855809 metastatic malignant thoracic neoplasm NCIT:C176862 MONDO:equivalentTo Metastatic Malignant Thoracic Neoplasm A malignant thoracic neoplasm that has spread from its original site of growth to another anatomic site. MONDO:0024880|MONDO:0003274 +MONDO:0855811 psammocarcinoma NCIT:C176887 MONDO:equivalentTo Psammocarcinoma An extremely rare variant of serous carcinoma arising from the ovary or peritoneum. It is characterized by extensive formation of psammoma bodies, low-grade cytological features, and invasion of surrounding structures. MONDO:0004970 +MONDO:0855859 infantile myofibromatosis 1 NCIT:C176943 MONDO:equivalentTo Infantile Myofibromatosis 1 A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the PDGFRB gene, encoding platelet-derived growth factor receptor beta. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. The lesions may be present at birth or become apparent in early infancy or even occasionally in adult life. MONDO:0016824 +MONDO:0855860 infantile myofibromatosis 2 NCIT:C176944 MONDO:equivalentTo Infantile Myofibromatosis 2 A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the NOTCH3 gene, encoding neurogenic locus notch homolog protein 3. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. Soft tissue lesions may regress spontaneously whereas visceral lesions are associated with high morbidity and mortality. MONDO:0016824 +MONDO:0855861 lipoma-like atypical lipomatous tumor/well differentiated liposarcoma NCIT:C176979 MONDO:equivalentTo Lipoma-Like Atypical Lipomatous Tumor/Well Differentiated Liposarcoma An atypical lipomatous tumor/well differentiated liposarcoma composed of mature adipocytes in which, unlike in benign lipoma, substantial variation in cell size is appreciated alongside nuclear atypia in fat cells or stromal spindle cells. (WHO 2020) MONDO:0006097 +MONDO:0855862 superficial atypical lipomatous tumor/well differentiated liposarcoma NCIT:C176980 MONDO:equivalentTo Superficial Atypical Lipomatous Tumor/Well Differentiated Liposarcoma An atypical lipomatous tumor/well differentiated liposarcoma that occurs in a superficial body structure. MONDO:0006097 +MONDO:0855863 atypical lipomatous tumor/well differentiated liposarcoma of deep soft tissue NCIT:C176981 MONDO:equivalentTo Atypical Lipomatous Tumor/Well Differentiated Liposarcoma of Deep Soft Tissue An atypical lipomatous tumor/well differentiated liposarcoma that occurs in deep soft tissue. MONDO:0006097 +MONDO:0855864 myxoid pleomorphic liposarcoma NCIT:C176989 MONDO:equivalentTo Myxoid Pleomorphic Liposarcoma An exceptionally rare, aggressive adipocytic neoplasm, typically occurring in children and adolescents. Myxoid pleomorphic liposarcoma shows mixed histological features of conventional myxoid liposarcoma and pleomorphic liposarcoma and lacks the gene fusions and amplifications of myxoid liposarcoma, atypical lipomatous tumor, and dedifferentiated liposarcoma. (WHO 2020) MONDO:0005060 +MONDO:0855883 plaque-like dermatofibrosarcoma protuberans NCIT:C177325 MONDO:equivalentTo Plaque-Like Dermatofibrosarcoma Protuberans A rare variant of dermatofibrosarcoma protuberans characterized by plaque-like growth, resembling plaque-like CD34-positive dermal fibroma. MONDO:0011934 +MONDO:0855884 somatic-type malignancy NCIT:C177364 MONDO:equivalentTo Somatic-Type Malignancy A malignant non-germ cell component that typically develops secondarily within a germ cell tumor. The malignant cellular component is usually sarcomatous or carcinomatous. MONDO:0004992 +MONDO:0855885 epithelioid myxofibrosarcoma NCIT:C177414 MONDO:equivalentTo Epithelioid Myxofibrosarcoma A rare subtype of myxofibrosarcoma composed predominantly of malignant epithelioid cells with abundant eosinophilic cytoplasm. MONDO:0019202 +MONDO:0855891 bladder flat urothelial carcinoma NCIT:C177531 MONDO:equivalentTo Bladder Flat Urothelial Carcinoma An in situ or invasive urothelial carcinoma that arises from the bladder wall and does not grow toward the hollow part of the bladder. MONDO:0005611 +MONDO:0855897 epithelioid hemangioendothelioma with wwtr1-camta1 gene fusion NCIT:C177552 MONDO:equivalentTo Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion Epithelioid hemangioendothelioma characterized by a t(1;3)(p36;q23-q25) translocation, resulting in a WWTR1-CAMTA1 gene fusion. This translocation and associated gene fusion occur in more than 90% of epithelioid hemangioendotheliomas. MONDO:0015523 +MONDO:0855898 epithelioid hemangioendothelioma with yap1-tfe3 gene fusion NCIT:C177553 MONDO:equivalentTo Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion Epithelioid hemangioendothelioma characterized by a YAP1-TFE3 gene fusion. This gene fusion occurs in a subset of epithelioid hemangioendotheliomas characterized by the presence of well-formed vessels lined by epithelioid endothelial cells with abundant eosinophilic cytoplasm. Patients with YAP1-TFE3 gene fusion tumors tend to be younger than those with a WWTR1-CAMTA1 gene fusion. MONDO:0015523 +MONDO:0855909 who grade 1 glioma NCIT:C177797 MONDO:equivalentTo WHO Grade 1 Glioma A category of low grade gliomas that includes subependymal giant cell astrocytoma, pilocytic astrocytoma, angiocentric glioma, and subependymoma. MONDO:0021637 +MONDO:0855911 poorly differentiated chordoma NCIT:C177898 MONDO:equivalentTo Poorly Differentiated Chordoma A rare, aggressive type of chordoma characterized by loss of SMARCB1 expression. It affects children and occasionally young adults. Females are affected twice as frequently as males. It usually arises in the axial skeleton. It is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. The prognosis is poor. MONDO:0008978 +MONDO:0855914 ebv-associated smooth muscle tumor NCIT:C178217 MONDO:equivalentTo EBV-Associated Smooth Muscle Tumor A rare smooth muscle neoplasm of uncertain biological potential. It is associated with Epstein-Barr virus infection and seen in patients with immunodeficiency, including primary immunodeficiency, HIV/AIDS infection, and post-transplant immunosuppression. MONDO:0006975 +MONDO:0855915 pleomorphic leiomyosarcoma NCIT:C178220 MONDO:equivalentTo Pleomorphic Leiomyosarcoma A leiomyosarcoma characterized by the presence of poorly differentiated areas with pleomorphic appearance, in addition to areas with typical morphologic features. MONDO:0005058 +MONDO:0855916 epithelioid schwannoma NCIT:C178245 MONDO:equivalentTo Epithelioid Schwannoma A schwannoma characterized by the presence of epithelioid cells with eosinophilic cytoplasm, within a myxoid and/or hyalinized stroma. MONDO:0002546 +MONDO:0855929 round cell sarcoma with ewsr1-non-ets fusion NCIT:C178459 MONDO:equivalentTo Round Cell Sarcoma with EWSR1-non-ETS Fusion A group of rare round and spindle cell sarcomas characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. This category includes EWSR1-NFATC2, EWSR1-PATZ1, and FUS-NFATC2 sarcomas. MONDO:0006974 +MONDO:0855930 sarcoma with bcor genetic alterations NCIT:C178465 MONDO:equivalentTo Sarcoma with BCOR Genetic Alterations A group of rare primitive round cell sarcomas characterized by the presence of BCOR genetic alterations. This category includes sarcomas with BCOR-related gene fusions, most frequently BCOR-CCNB3, and sarcomas showing internal tandem duplication (BCOR-ITD). MONDO:0006974 +MONDO:0855935 gastric melanoma NCIT:C178519 MONDO:equivalentTo Gastric Melanoma A melanoma that arises from mucosa of the stomach. MONDO:0001056|MONDO:0045070 +MONDO:0855938 yolk sac tumor with somatic-type malignancy NCIT:C178523 MONDO:equivalentTo Yolk Sac Tumor with Somatic-Type Malignancy A yolk sac tumor that is characterized by morphologic transformation to somatic-type malignancy. The somatic-type malignant component most often is sarcomatous or carcinomatous. MONDO:0005744 +MONDO:0855939 conventional chordoma NCIT:C178563 MONDO:equivalentTo Conventional Chordoma A malignant bone tumor arising from the remnants of the fetal notochord. It is characterized by the presence of large epithelioid cells with clear to light eosinophilic cytoplasm. Some of the cells are large with bubbly, vacuolated cytoplasm (physaliphorous cells). The cells form cords and nests that are embedded within an extracellular myxoid matrix. MONDO:0008978 +MONDO:0855941 bone langerhans cell histiocytosis NCIT:C178607 MONDO:equivalentTo Bone Langerhans Cell Histiocytosis Langerhans cell histiocytosis affecting the bone. MONDO:0019060|MONDO:0018310 +MONDO:0855942 bone erdheim-chester disease NCIT:C178609 MONDO:equivalentTo Bone Erdheim-Chester Disease Erdheim-Chester disease affecting the bone. MONDO:0019060|MONDO:0018153 +MONDO:0855961 b-cell lymphoproliferative disorder NCIT:C179052 MONDO:equivalentTo B-Cell Lymphoproliferative Disorder A non-neoplastic or neoplastic proliferation of B-lymphocytes. +MONDO:0855962 t/nk-cell lymphoproliferative disorder NCIT:C179053 MONDO:equivalentTo T/NK-Cell Lymphoproliferative Disorder A non-neoplastic or neoplastic proliferation of T-lymphocytes and/or NK-cells. +MONDO:0855976 ovarian signet ring cell carcinoma NCIT:C179208 MONDO:equivalentTo Ovarian Signet Ring Cell Carcinoma An extremely rare adenocarcinoma that arises from the ovary. It is characterized by the presence of signet ring malignant epithelial cells. MONDO:0005092|MONDO:0002752 +MONDO:0855982 myxoid glioneuronal tumor NCIT:C179229 MONDO:equivalentTo Myxoid Glioneuronal Tumor A rare, low-grade glioneuronal neoplasm characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum. It has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It has histologic features reminiscent of either dysembryoplastic neuroepithelial tumor or rosette-forming glioneuronal tumor. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. MONDO:0016729 +MONDO:0855983 borderline ovarian seromucinous tumor NCIT:C179259 MONDO:equivalentTo Borderline Ovarian Seromucinous Tumor A low grade ovarian epithelial neoplasm characterized by the presence of atypical neoplastic serous and mucinous cells. MONDO:0016093|MONDO:0003811 +MONDO:0855987 mesonephric-like adenocarcinoma NCIT:C179320 MONDO:equivalentTo Mesonephric-Like Adenocarcinoma An exceedingly rare adenocarcinoma that arises from the uterine corpus and ovary and displays mesonephric differentiation. Some tumors are thought to derive from mesonephric duct (Wolffian duct) remnants. Others may have a Mullerian duct lineage. MONDO:0001416|MONDO:0004970 +MONDO:0855990 ovarian dedifferentiated carcinoma NCIT:C179334 MONDO:equivalentTo Ovarian Dedifferentiated Carcinoma An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by the presence of an undifferentiated carcinomatous component and a second component of either endometrioid carcinoma or, rarely, serous carcinoma. MONDO:0005140 +MONDO:0855991 ovarian mixed cell adenocarcinoma NCIT:C179339 MONDO:equivalentTo Ovarian Mixed Cell Adenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of two or more adenocarcinoma components, most often endometrioid and clear cell. MONDO:0002752 +MONDO:0855993 giant cell-rich osteosarcoma NCIT:C179410 MONDO:equivalentTo Giant Cell-Rich Osteosarcoma An exceedingly rare, high-grade variant of conventional osteosarcoma characterized by the presence of numerous osteoclast-like giant cells and variable amount of tumor osteoid. MONDO:0002631 +MONDO:0855995 unresectable plexiform neurofibroma NCIT:C179423 MONDO:equivalentTo Unresectable Plexiform Neurofibroma Plexiform neurofibroma that is not amenable to surgical resection. MONDO:0003304 +MONDO:0855999 ovarian neuroectodermal-type tumor NCIT:C179474 MONDO:equivalentTo Ovarian Neuroectodermal-Type Tumor A rare ovarian malignant tumor with neuroectodermal differentiation. It is characterized either by a small round cell proliferation or by neuronal or glial differentiation. MONDO:0008170 +MONDO:0856000 ovarian wolffian tumor NCIT:C179548 MONDO:equivalentTo Ovarian Wolffian Tumor An epithelial neoplasm of Wolffian (mesonephric) origin arising from the ovarian hilum. Most tumors behave in a benign fashion. MONDO:0002229|MONDO:0004255 +MONDO:0856002 her2-low breast carcinoma NCIT:C179553 MONDO:equivalentTo HER2-Low Breast Carcinoma A breast adenocarcinoma defined by low expression of HER2 (IHC1+ or IHC2+; FISH negative). MONDO:0004988 +MONDO:0856003 peritoneal calcifying fibrous tumor NCIT:C179560 MONDO:equivalentTo Peritoneal Calcifying Fibrous Tumor A benign well-circumscribed lesion arising from the mesentery. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications. MONDO:0000650|MONDO:0006121 +MONDO:0856016 basal ganglia neoplasm NCIT:C179882 MONDO:equivalentTo Basal Ganglia Neoplasm A benign or malignant neoplasm that affects the basal ganglia. MONDO:0021374 +MONDO:0856017 cerebellar peduncle neoplasm NCIT:C179883 MONDO:equivalentTo Cerebellar Peduncle Neoplasm A benign or malignant neoplasm that affects the cerebellar peduncle. MONDO:0002913 +MONDO:0856018 corpus callosum neoplasm NCIT:C179884 MONDO:equivalentTo Corpus Callosum Neoplasm A benign or malignant neoplasm that affects the corpus callosum. MONDO:0021374 +MONDO:0856019 oral cavity carcinoma cuniculatum NCIT:C179894 MONDO:equivalentTo Oral Cavity Carcinoma Cuniculatum A variant of well-differentiated squamous cell carcinoma arising from the oral cavity. It is characterized by the presence of minimal cytological atypia, multiple keratin-filled crypts, and intraepithelial neutrophils. MONDO:0021538 +MONDO:0856021 uterine ligament leiomyoma NCIT:C179923 MONDO:equivalentTo Uterine Ligament Leiomyoma A leiomyoma that arises from the broad or other uterine ligaments. MONDO:0001572|MONDO:0020582 +MONDO:0856022 uterine ligament adenomyoma NCIT:C179925 MONDO:equivalentTo Uterine Ligament Adenomyoma A benign neoplasm that arises from the broad or other uterine ligaments. It is characterized by the presence of a glandular and a mesenchymal component. MONDO:0005635|MONDO:0020582 +MONDO:0856024 uterine ligament wolffian tumor NCIT:C179927 MONDO:equivalentTo Uterine Ligament Wolffian Tumor An epithelial neoplasm of Wolffian (mesonephric) origin arising from a uterine ligament. Most tumors behave in a benign fashion. MONDO:0004255|MONDO:0021629 +MONDO:0856025 uterine ligament ependymoma NCIT:C179928 MONDO:equivalentTo Uterine Ligament Ependymoma A rare neoplasm that arises from the broad or other uterine ligaments and shows ependymal differentiation. MONDO:0021629 +MONDO:0856026 broad ligament neoplasm NCIT:C179931 MONDO:equivalentTo Broad Ligament Neoplasm A benign, borderline, or malignant neoplasm that affects the broad ligament. MONDO:0021629 +MONDO:0856027 microsatellite stable ovarian carcinoma NCIT:C180332 MONDO:equivalentTo Microsatellite Stable Ovarian Carcinoma Ovarian carcinoma characterized by the absence of microsatellite instability. MONDO:0005140 +MONDO:0856028 microsatellite stable endometrial carcinoma NCIT:C180335 MONDO:equivalentTo Microsatellite Stable Endometrial Carcinoma Endometrial carcinoma characterized by the absence of microsatellite instability. MONDO:0002447 +MONDO:0856030 polymorphous low grade neuroepithelial tumor of the young NCIT:C180378 MONDO:equivalentTo Polymorphous Low Grade Neuroepithelial Tumor of the Young A low-grade cerebral tumor associated with seizures and in many cases refractory epilepsy. It usually occurs in the second and third decades of life. It is characterized by the presence of oligodendroglioma-like components. It may also contain astrocytic components. MAPK pathway-activating genetic alterations play a role in the development of this tumor. Causative gene alterations include mutations resulting in the expression of BRAF p.V600E and gene fusions involving FGFR2 or FGFR3 genes. IDH gene mutations and 1p/19q codeletion are not present. MONDO:0016729|MONDO:0021632 +MONDO:0856033 tectal glioma NCIT:C180407 MONDO:equivalentTo Tectal Glioma A glioma that arises from the tectum mesenchephali. MONDO:0021042 +MONDO:0856035 pole-ultramutated endometrial endometrioid adenocarcinoma NCIT:C180512 MONDO:equivalentTo POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma An endometrial endometrioid adenocarcinoma characterized by mutations in the exonuclease domain of the DNA polymerase epsilon (POLE) gene that result in an ultra-mutated tumor phenotype. MONDO:0006192 +MONDO:0856036 mismatch repair-deficient endometrial endometrioid adenocarcinoma NCIT:C180514 MONDO:equivalentTo Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma An endometrial endometrioid adenocarcinoma characterized by mismatch repair (MMR) deficiency caused by inactivating methylation or less frequently mutation of an MMR gene (MLH1, PMS2, MSH2, or MSH6). MONDO:0006192 +MONDO:0856037 p53-mutant endometrial endometrioid adenocarcinoma NCIT:C180515 MONDO:equivalentTo p53-Mutant Endometrial Endometrioid Adenocarcinoma An endometrial endometrioid adenocarcinoma characterized by the presence of p53 gene mutations. MONDO:0006192 +MONDO:0856038 no specific molecular profile endometrial endometrioid adenocarcinoma NCIT:C180516 MONDO:equivalentTo No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma An endometrial endometrioid adenocarcinoma characterized by the absence of POLE gene mutations, mismatch repair (MMR) deficiency, and p53 gene mutations. MONDO:0006192 +MONDO:0856040 dysembryoplastic neuroepithelial-like tumor of the septum pellucidum NCIT:C180532 MONDO:equivalentTo Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum A very rare, low-grade midline brain neoplasm that affects the septum pellucidum. It is characterized by similar histological features to those found in dysembryoplastic neuroepithelial tumor, but does not display multinodularity. It usually manifests with symptoms related to increased intracranial pressure. Epilepsy has been reported in approximately one third of patients. PDGFRA gene mutations have been identified in the majority of patients. Alterations in FGFR1 and NF1 genes have also been reported. BRAF mutations which represent the most common molecular alteration found in cortical dysembryoplastic neuroepithelial tumor, were absent in this rare group of midline tumors. MONDO:0016729 +MONDO:0856041 endometrial mucinous adenocarcinoma, intestinal-type NCIT:C180536 MONDO:equivalentTo Endometrial Mucinous Adenocarcinoma, Intestinal-Type A rare mucinous adenocarcinoma arising from intestinal metaplasia of the endometrium. MONDO:0005461|MONDO:0006254 +MONDO:0856042 endometrial mucinous adenocarcinoma, gastric-type NCIT:C180537 MONDO:equivalentTo Endometrial Mucinous Adenocarcinoma, Gastric-Type A rare mucinous adenocarcinoma arising from gastric metaplasia of the endometrium. MONDO:0005461 +MONDO:0856044 uterine corpus central primitive neuroectodermal tumor NCIT:C180546 MONDO:equivalentTo Uterine Corpus Central Primitive Neuroectodermal Tumor A rare uterine corpus malignant small round cell tumor with neuroglial differentiation. The prognosis is poor. MONDO:0005210|MONDO:0006974 +MONDO:0856048 urothelial carcinoma, high grade NCIT:C180606 MONDO:equivalentTo Urothelial Carcinoma, High Grade Urothelial carcinoma characterized by the presence of neoplastic epithelial cells with high grade features. MONDO:0040679 +MONDO:0856052 gestational trophoblastic disorder NCIT:C180633 MONDO:equivalentTo Gestational Trophoblastic Disorder A group of pregnancy-related proliferative disorders. It includes non-neoplastic disorders (complete hydatidiform mole, partial hydatidiform mole, placental site nodule and plaque, and exaggerated placental site reaction) and neoplasms (invasive hydatidiform mole and trophoblastic tumors). Trophoblastic tumors include gestational choriocarcinoma, epithelioid trophoblastic tumor, placental-site trophoblastic tumor, and mixed trophoblastic tumor. +MONDO:0856053 mixed trophoblastic tumor NCIT:C180634 MONDO:equivalentTo Mixed Trophoblastic Tumor A gestational trophoblastic tumor characterized by the presence of two or three histological types of gestational trophoblastic tumor, including choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. MONDO:0018944 +MONDO:0856054 metastatic hydatidiform mole NCIT:C180635 MONDO:equivalentTo Metastatic Hydatidiform Mole The spread of abnormal molar chorionic villi from an invasive hydatidiform mole in the uterine cavity to other anatomic sites, usually the vaginal wall and pelvis. MONDO:0020549 +MONDO:0856055 low grade papillary schneiderian carcinoma NCIT:C180670 MONDO:equivalentTo Low Grade Papillary Schneiderian Carcinoma A rare sinonasal carcinoma characterized by the presence of a papillary architecture and bland morphological features similar to the Schneiderian papilloma, a pushing pattern of stromal invasion, and an increased risk of local recurrence. MONDO:0056819 +MONDO:0856057 cervical squamous cell carcinoma, not otherwise specified NCIT:C180839 MONDO:equivalentTo Cervical Squamous Cell Carcinoma, Not Otherwise Specified Cervical squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available. MONDO:0006143 +MONDO:0856060 human papillomavirus-independent cervical adenocarcinoma NCIT:C180848 MONDO:equivalentTo Human Papillomavirus-Independent Cervical Adenocarcinoma Cervical adenocarcinoma not associated with human papillomavirus infection. MONDO:0005153 +MONDO:0856067 cervical adenocarcinoma, not otherwise specified NCIT:C180870 MONDO:equivalentTo Cervical Adenocarcinoma, Not Otherwise Specified A cervical adenocarcinoma that cannot be classified by WHO criteria or International Endocervical Adenocarcinoma Criteria and Classification (IECC). MONDO:0005153 +MONDO:0856070 cervical mucoepidermoid carcinoma NCIT:C180878 MONDO:equivalentTo Cervical Mucoepidermoid Carcinoma A rare carcinoma that arises from the cervix. It is characterized by the presence of squamous cells, mucus producing cells, and cells of intermediate type. MONDO:0005131|MONDO:0003036 +MONDO:0856071 cervical germ cell tumor NCIT:C180879 MONDO:equivalentTo Cervical Germ Cell Tumor A rare germ cell tumor that arises from the cervix. Examples include mature cystic teratoma, yolk sac tumor, and choriocarcinoma. MONDO:0005040|MONDO:0021230 +MONDO:0856072 minor salivary gland intraductal papillary neoplasm NCIT:C180880 MONDO:equivalentTo Minor Salivary Gland Intraductal Papillary Neoplasm A rare papillary neoplasm that grows within and is limited to the duct system of the minor salivary glands. This category includes papillary cystadenoma, ductal papilloma (including the intraductal and inverted variants), sialadenoma papilliferum, and intraductal papillary mucinous neoplasm. MONDO:0021370 +MONDO:0856074 adult myofibroma NCIT:C180888 MONDO:equivalentTo Adult Myofibroma A rare myofibroma that occurs in adults. MONDO:0006312 +MONDO:0856077 human papillomavirus-related vaginal squamous cell carcinoma NCIT:C180917 MONDO:equivalentTo Human Papillomavirus-Related Vaginal Squamous Cell Carcinoma A squamous cell carcinoma that arises from the vagina and is caused by human papillomavirus infection. MONDO:0020657|MONDO:0006490 +MONDO:0856083 vaginal adenocarcinoma of skene gland origin NCIT:C180947 MONDO:equivalentTo Vaginal Adenocarcinoma of Skene Gland Origin A rare vaginal adenocarcinoma arising from the Skene gland. It is characterized by morphological and immunohistochemical features similar to prostate adenocarcinoma. MONDO:0020653|MONDO:0004173 +MONDO:0856100 hybrid salivary gland tumor NCIT:C181078 MONDO:equivalentTo Hybrid Salivary Gland Tumor A rare neoplasm that arises from the salivary gland and consists of at least two histologically distinct types of tumor within the same topographic location. The tumor components can be either benign or malignant. MONDO:0021043|MONDO:0021357 +MONDO:0856104 eyelid basal cell carcinoma NCIT:C181159 MONDO:equivalentTo Eyelid Basal Cell Carcinoma A basal cell carcinoma that arises from the eyelid. MONDO:0003876|MONDO:0005341 +MONDO:0856106 major salivary gland squamous cell carcinoma NCIT:C181161 MONDO:equivalentTo Major Salivary Gland Squamous Cell Carcinoma A squamous cell carcinoma that arises from the parotid or submandibular gland. MONDO:0044740|MONDO:0006284 +MONDO:0856110 lung rhabdomyosarcoma NCIT:C181201 MONDO:equivalentTo Lung Rhabdomyosarcoma A rare rhabdomyosarcoma that arises from the lung. MONDO:0002426|MONDO:0005212 +MONDO:0856111 lung hodgkin lymphoma NCIT:C181205 MONDO:equivalentTo Lung Hodgkin Lymphoma A rare Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. MONDO:0003987|MONDO:0004952 +MONDO:0856112 primary bone hodgkin lymphoma NCIT:C181207 MONDO:equivalentTo Primary Bone Hodgkin Lymphoma An exceedingly rare Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. MONDO:0004952|MONDO:0017814 +MONDO:0856114 cervical cancer by ajcc v9 stage NCIT:C181562 MONDO:equivalentTo Cervical Cancer by AJCC v9 Stage A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 9th edition. This staging system applies to carcinomas and carcinosarcomas. It does not apply to sarcomas, lymphomas, and melanomas. Sarcomas are staged according to the corpus uteri classification for sarcomas. Lymphomas are staged according to Hodgkin and non-Hodgkin lymphoma classification. Melanomas are not staged. (from AJCC 9th Ed.) MONDO:0005131 +MONDO:0856117 epiglottic squamous cell carcinoma NCIT:C181714 MONDO:equivalentTo Epiglottic Squamous Cell Carcinoma A squamous cell carcinoma of the larynx that arises from the epiglottis. MONDO:0004293|MONDO:0004473 +MONDO:0856124 vulvar squamous cell carcinoma, not otherwise specified NCIT:C181902 MONDO:equivalentTo Vulvar Squamous Cell Carcinoma, Not Otherwise Specified Vulvar squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available. MONDO:0024609 +MONDO:0856128 endometrial mucosa-associated lymphoid tissue lymphoma NCIT:C181910 MONDO:equivalentTo Endometrial Mucosa-Associated Lymphoid Tissue Lymphoma A rare extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue affecting the endometrium. MONDO:0007650|MONDO:0011962 +MONDO:0856134 vulvar kaposi sarcoma NCIT:C181938 MONDO:equivalentTo Vulvar Kaposi Sarcoma A Kaposi sarcoma arising from the vulva. MONDO:0005055|MONDO:0005214 +MONDO:0856136 vulvar rhabdomyosarcoma NCIT:C181944 MONDO:equivalentTo Vulvar Rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vulva. MONDO:0005214|MONDO:0005212 +MONDO:0856137 vulvar epithelioid sarcoma NCIT:C181971 MONDO:equivalentTo Vulvar Epithelioid Sarcoma An epithelioid sarcoma that arises from the vulva. MONDO:0005214|MONDO:0017387 +MONDO:0856139 vulvar ewing sarcoma NCIT:C181977 MONDO:equivalentTo Vulvar Ewing Sarcoma Ewing sarcoma arising from the vulva. MONDO:0018270|MONDO:0005214 +MONDO:0856154 bronchiolar adenoma/ciliated muconodular papillary tumor NCIT:C183045 MONDO:equivalentTo Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor A rare, benign, circumscribed nodule arising from the bronchioles. It is usually seen in middle-aged to elderly patients. It is characterized by the presence a two-layer cellular structure composed of a basal and luminal layer. MONDO:0003422 +MONDO:0856155 invasive lung non-mucinous adenocarcinoma NCIT:C183109 MONDO:equivalentTo Invasive Lung Non-Mucinous Adenocarcinoma An invasive adenocarcinoma that arises from the lung. It is characterized by the absence of tall columnar cells and mucin production. This category includes lepidic adenocarcinoma, acinar adenocarcinoma, papillary adenocarcinoma, micropapillary adenocarcinoma, and solid adenocarcinoma. MONDO:0040677|MONDO:0005061 +MONDO:0856156 thoracic smarca4-deficient undifferentiated tumor NCIT:C183115 MONDO:equivalentTo Thoracic SMARCA4-Deficient Undifferentiated Tumor An aggressive, high-grade malignant neoplasm characterized by biallelic inactivation of SMARCA4 gene. It affects adults, usually heavy smokers, and involves the thorax (lung, pulmonary hilum, mediastinum, and/or pleura) with or without chest wall invasion. It is composed of sheets of malignant large round to epithelioid cells. Rhabdoid cells may be present. Increased number of mitoses and necrosis are frequently seen. The prognosis is poor. MONDO:0003274 +MONDO:0856158 lung intravascular large b-cell lymphoma NCIT:C183121 MONDO:equivalentTo Lung Intravascular Large B-Cell Lymphoma An aggressive extranodal B-cell non-Hodgkin lymphoma that affects the lung. It is characterized by the presence of large neoplastic lymphocytes exclusively in the lumina of small vessels, particularly capillaries. MONDO:0020324|MONDO:0006387 +MONDO:0856161 pleural mesothelioma in situ NCIT:C183134 MONDO:equivalentTo Pleural Mesothelioma In Situ A non-invasive mesothelial neoplasm that arises from the pleura. It is characterized by the proliferation of a single-layer of flat or cuboidal neoplastic mesothelial cells. Cytological atypia is absent or minimal. Mitoses are absent. BAP1 gene inactivation and/or CDKN2A gene homozygous deletion are present. Patients present with non-resolving pleural effusion. It may progress to invasive epithelioid mesothelioma. MONDO:0003308 +MONDO:0856165 cardiac diffuse large b-cell lymphoma NCIT:C183146 MONDO:equivalentTo Cardiac Diffuse Large B-Cell Lymphoma A diffuse large B-cell lymphoma that arises from the heart. MONDO:0003917|MONDO:0018905 +MONDO:0856172 pleural calcifying fibrous tumor NCIT:C183277 MONDO:equivalentTo Pleural Calcifying Fibrous Tumor A rare, benign, well-circumscribed lesion arising from the pleura. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, and dystrophic calcifications. Patients may present with chest pain, dyspnea, cough, or may be asymptomatic. MONDO:0006121|MONDO:0021457 +MONDO:0856178 thymic carcinoma with adenoid cystic carcinoma-like features NCIT:C183313 MONDO:equivalentTo Thymic Carcinoma with Adenoid Cystic Carcinoma-Like Features A very rare primary thymic carcinoma that resembles adenoid cystic carcinoma of the salivary gland. MONDO:0006451 +MONDO:0856179 thymic enteric-type adenocarcinoma NCIT:C183314 MONDO:equivalentTo Thymic Enteric-Type Adenocarcinoma A primary thymic adenocarcinoma characterized by morphological and immunohistochemical features seen in colorectal adenocarcinoma. MONDO:0003209|MONDO:0006254 +MONDO:0856180 thymic adenocarcinoma, not otherwise specified NCIT:C183315 MONDO:equivalentTo Thymic Adenocarcinoma, Not Otherwise Specified A primary thymic adenocarcinoma that does not conform to either low-grade papillary adenocarcinoma or enteric-type adenocarcinoma. MONDO:0003209 +MONDO:0856181 thymic carcinoma, not otherwise specified NCIT:C183316 MONDO:equivalentTo Thymic Carcinoma, Not Otherwise Specified A primary thymic carcinoma that cannot be defined as one of the thymic carcinomas with specific morphologic characteristics. MONDO:0006451 +MONDO:0856182 mediastinal follicular dendritic cell sarcoma NCIT:C183374 MONDO:equivalentTo Mediastinal Follicular Dendritic Cell Sarcoma A rare follicular dendritic cell sarcoma that affects the structures of the mediastinum. MONDO:0005764|MONDO:0005843 +MONDO:0856183 metastatic malignant neoplasm in the mediastinal lymph nodes NCIT:C183510 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Mediastinal Lymph Nodes The spread of a malignant neoplasm to the mediastinal lymph nodes from an adjacent or distant anatomic site. MONDO:0005438 +MONDO:0856191 salivary gland adenoma NCIT:C184295 MONDO:equivalentTo Salivary Gland Adenoma A benign adenoma that arises from the salivary gland. This group includes pleomorphic adenoma, canalicular adenoma, basal cell adenoma, and sebaceous adenoma. MONDO:0021460|MONDO:0004972 +MONDO:0856197 multiple solitary plasmacytoma of bone NCIT:C185035 MONDO:equivalentTo Multiple Solitary Plasmacytoma of Bone The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma. MONDO:0002755 +MONDO:0856199 splenic plasmacytoma NCIT:C185041 MONDO:equivalentTo Splenic Plasmacytoma A plasmacytoma that arises in the spleen. MONDO:0002754|MONDO:0005966 +MONDO:0856204 extramedullary disease in multiple myeloma NCIT:C185149 MONDO:equivalentTo Extramedullary Disease in Multiple Myeloma Infiltration of organs and soft tissues by malignant (clonal) plasma cells in patients with history of multiple myeloma. Skin, liver, lymph nodes, pleura, and central nervous system are the most frequently affected sites. MONDO:0009693 +MONDO:0856206 astrocytoma, idh-mutant NCIT:C185167 MONDO:equivalentTo Astrocytoma, IDH-Mutant An astrocytoma associated with IDH1 or IDH2 gene mutations and absence of 1p/19q codeletion. It is classified as grade 2, 3, or 4. MONDO:0019781 +MONDO:0856207 astrocytoma, idh-wildtype NCIT:C185184 MONDO:equivalentTo Astrocytoma, IDH-Wildtype Astrocytoma lacking mutations in IDH1 or IDH2 genes. It includes diffuse astrocytoma, IDH-wildtype and anaplastic astrocytoma, IDH-wildtype. MONDO:0019781 +MONDO:0856208 astrocytoma, not otherwise specified NCIT:C185185 MONDO:equivalentTo Astrocytoma, Not Otherwise Specified A central nervous system tumor with morphological features of astrocytoma in which there is insufficient information on the IDH genes status. MONDO:0019781 +MONDO:0856216 extranodal lymphoma NCIT:C185752 MONDO:equivalentTo Extranodal Lymphoma A non-Hodgkin or Hodgkin lymphoma that arises from an anatomic site other than a lymph node. MONDO:0017207 +MONDO:0856218 high grade astrocytoma with piloid features NCIT:C185879 MONDO:equivalentTo High Grade Astrocytoma with Piloid Features An astrocytoma characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. Alterations in the following three pathways are responsible for the pathogenesis of this tumor: MAPK pathway, retinoblastoma tumor suppressor protein cell-cycle pathway, and telomere maintenance pathway. MONDO:0016684 +MONDO:0856232 spinal cord ependymoma, mycn amplified NCIT:C186494 MONDO:equivalentTo Spinal Cord Ependymoma, MYCN Amplified A rare, aggressive ependymoma that arises from the spinal cord. It displays microvascular proliferation, necrosis, and high mitotic rate. It is characterized by high-level MYCN amplification. Cytogenetic abnormalities include loss of chromosome 10 and focal losses on chromosome 11q. The prognosis is poor. MONDO:0002542|MONDO:0016698 +MONDO:0856233 childhood spinal cord ependymoma NCIT:C186495 MONDO:equivalentTo Childhood Spinal Cord Ependymoma An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children. MONDO:0002716|MONDO:0003478|MONDO:0003473 +MONDO:0856234 central nervous system neuroblastoma, foxr2-activated NCIT:C186547 MONDO:equivalentTo Central Nervous System Neuroblastoma, FOXR2-Activated A rare central nervous system neoplasm with neuroblastic and/or neuronal differentiation. It is characterized by the presence of structural rearrangements of FOXR2 gene that result in the activation of the transcription factor FOXR2. MONDO:0002900 +MONDO:0856238 primary intracranial sarcoma, dicer1-mutant NCIT:C186610 MONDO:equivalentTo Primary Intracranial Sarcoma, DICER1-Mutant A primary intracranial sarcoma composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. MONDO:0002216 +MONDO:0856239 central nervous system ewing sarcoma NCIT:C186611 MONDO:equivalentTo Central Nervous System Ewing Sarcoma Ewing sarcoma that arises in the central nervous system. MONDO:0018270|MONDO:0002217|MONDO:0016713 +MONDO:0856240 intracranial mesenchymal tumor, fet-creb fusion-positive NCIT:C186614 MONDO:equivalentTo Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive A provisional entity that refers to a group of neoplasms with a broad morphological spectrum, characterized by fusion of a FET family gene (usually EWSR1 and rarely FUS) with a member of the CREB family of transcription factors (CREB1, ATF1, or CREM). It includes entities previously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. It is usually located in the supratentorial brain and mostly affects children and young adults. There is a spectrum of clinical behaviors ranging from slowly growing tumors to rapid recurrences, and rarely metastases. MONDO:0003244|MONDO:0021632 +MONDO:0856241 cervical cancer by figo stage 2009 NCIT:C186619 MONDO:equivalentTo Cervical Cancer by FIGO Stage 2009 A term that refers to the staging of cervical cancer according to the International Federation of Gynecology and Obstetrics (FIGO) staging, 2009. MONDO:0005131 +MONDO:0856244 central nervous system lymphomatoid granulomatosis NCIT:C186662 MONDO:equivalentTo Central Nervous System Lymphomatoid Granulomatosis Lymphomatoid granulomatosis that affects the brain, spinal cord, and leptomeninges. MONDO:0019466|MONDO:0003641 +MONDO:0856246 smarcb1 schwannomatosis 1 NCIT:C186703 MONDO:equivalentTo SMARCB1 Schwannomatosis 1 Schwannomatosis caused by germline mutations in the SMARCB1 gene. MONDO:0008075 +MONDO:0856247 lztr1 schwannomatosis 2 NCIT:C186704 MONDO:equivalentTo LZTR1 Schwannomatosis 2 Schwannomatosis caused by germline mutations in the LZTR1 gene. MONDO:0008075 +MONDO:0856253 childhood acute leukemia NCIT:C187056 MONDO:equivalentTo Childhood Acute Leukemia An acute leukemia that occurs during childhood. MONDO:0010643|MONDO:0004355 +MONDO:0856254 pituitary neuroendocrine tumor of pit1-lineage NCIT:C187086 MONDO:equivalentTo Pituitary Neuroendocrine Tumor of PIT1-Lineage A pituitary neuroendocrine tumor arising from PIT1-lineage adenohypophysial cells. MONDO:0006373 +MONDO:0856255 pituitary neuroendocrine tumor of tpit-lineage NCIT:C187087 MONDO:equivalentTo Pituitary Neuroendocrine Tumor of TPIT-Lineage A pituitary neuroendocrine tumor arising from TPIT-lineage adenohypophysial cells. MONDO:0006373 +MONDO:0856256 pituitary neuroendocrine tumor of sf1-lineage NCIT:C187088 MONDO:equivalentTo Pituitary Neuroendocrine Tumor of SF1-Lineage A pituitary neuroendocrine tumor arising from SF1-lineage adenohypophysial cells. MONDO:0006373 +MONDO:0856257 pituitary neuroendocrine tumor without distinct lineage differentiation NCIT:C187096 MONDO:equivalentTo Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation A pituitary neuroendocrine tumor that belongs to more than one adenohypophysial cell lineage or does not show evidence of adenohypophysial hormonal immunoreactivity and specific adenohypophysial cell derivation. MONDO:0006373 +MONDO:0856258 pituitary neuroendocrine tumor, not otherwise specified NCIT:C187135 MONDO:equivalentTo Pituitary Neuroendocrine Tumor, Not Otherwise Specified A pituitary neuroendocrine tumor in which further characterization regarding subtyping is not available. MONDO:0006373 +MONDO:0856267 thyroid gland follicular adenoma with papillary architecture NCIT:C187261 MONDO:equivalentTo Thyroid Gland Follicular Adenoma with Papillary Architecture A benign, encapsulated thyroid gland neoplasm characterized by the presence of large follicles with intrafollicular papillary architecture. The cells lining the papillae are usually columnar. It is usually a cystic neoplasm and lacks nuclear atypia and capsular invasion. Psammoma bodies are not present. Activating TSHR mutations have been described in the majority of cases. In a small number of cases GNAS mutations have been identified. MONDO:0005032 +MONDO:0856268 low risk thyroid gland neoplasm NCIT:C187273 MONDO:equivalentTo Low Risk Thyroid Gland Neoplasm A thyroid gland neoplasm in which the incidence of metastatic spread is extremely low. This category includes thyroid gland noninvasive follicular neoplasm with papillary-like nuclear features, thyroid gland hyalinizing trabecular tumor, and thyroid gland tumors of uncertain malignant potential. MONDO:0015074 +MONDO:0856272 invasive breast lobular carcinoma with extracellular mucin NCIT:C187405 MONDO:equivalentTo Invasive Breast Lobular Carcinoma with Extracellular Mucin A rare variant of invasive breast lobular carcinoma characterized by the presence of pools of extracellular mucin in which groups of floating lobular carcinoma cells are identified. MONDO:0005051 +MONDO:0856275 thyroid gland follicular carcinoma, signet ring cell variant NCIT:C187643 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Signet Ring Cell Variant A morphologic variant of follicular carcinoma of the thyroid gland characterized by the presence of malignant follicular cells with cytoplasmic vacuoles and eccentrically placed nuclei. MONDO:0005034 +MONDO:0856276 classic thyroid gland papillary carcinoma NCIT:C187644 MONDO:equivalentTo Classic Thyroid Gland Papillary Carcinoma A thyroid gland papillary carcinoma characterized by the presence of thin cores of fibrovascular tissue lined by one or occasionally several layers of malignant cells with distinct nuclear features that include nuclear pseudoinclusions, nuclear grooves, and ground glass nuclear inclusions. MONDO:0005075 +MONDO:0856277 high grade follicular cell-derived non-anaplastic thyroid gland carcinoma NCIT:C187645 MONDO:equivalentTo High Grade Follicular Cell-Derived Non-Anaplastic Thyroid Gland Carcinoma A thyroid gland carcinoma that arises from follicular cells and is characterized by the presence of high mitotic activity and necrotic changes in the absence of anaplastic histological features. This category includes poorly differentiated thyroid gland carcinoma and differentiated high-grade thyroid gland carcinoma. MONDO:0024622 +MONDO:0856285 thyroid gland secretory carcinoma NCIT:C187994 MONDO:equivalentTo Thyroid Gland Secretory Carcinoma An invasive adenocarcinoma of the thyroid gland characterized by the presence of cells that secrete eosinophilic material. It is composed of cystic spaces, tubular structures, and solid areas. ETV6 translocations and ETV6-NTRK3 fusion are present. MONDO:0024622 +MONDO:0856286 thyroblastoma NCIT:C187995 MONDO:equivalentTo Thyroblastoma A high-grade, rapidly growing malignant embryonal neoplasm that arises from the thyroid gland. It is characterized by the presence of primitive follicular-like structures surrounded by primitive small cells and primitive spindle cell mesenchymal stroma. It is associated with DICER1 gene mutations. The prognosis is poor. MONDO:0002108|MONDO:0005564 +MONDO:0856287 teratoma with endocrine differentiation NCIT:C188013 MONDO:equivalentTo Teratoma with Endocrine Differentiation A teratoma that arises outside an endocrine organ and shows endocrine differentiation. The endocrine component ranges from benign endocrine tissue to malignant endocrine neoplasms. This category includes struma ovarii, thyroid carcinoma arising in struma ovarii, and carcinoid tumor arising in ovarian teratoma. MONDO:0002601 +MONDO:0856289 b-cell malignant neoplasm NCIT:C188021 MONDO:equivalentTo B-Cell Malignant Neoplasm A clonal lymphoproliferative disorder composed of neoplastic B-cells. It includes B-cell non-Hodgkin lymphomas, B-cell leukemias, and plasma cell myeloma. MONDO:0004992|MONDO:0004095 +MONDO:0856293 mast cell leukemia with an associated myeloid neoplasm NCIT:C188031 MONDO:equivalentTo Mast Cell Leukemia with an Associated Myeloid Neoplasm Mast cell leukemia associated with another clonal non-mast cell myeloid neoplasm (e.g., myelodysplastic syndrome, myeloproliferative neoplasm, and acute myeloid leukemia). MONDO:0020332|MONDO:0020334 +MONDO:0856298 refractory wilms tumor NCIT:C188038 MONDO:equivalentTo Refractory Wilms Tumor Wilms tumor that is resistant to treatment. MONDO:0006058|MONDO:0036501 +MONDO:0856302 pleural proximal-type epithelioid sarcoma NCIT:C188055 MONDO:equivalentTo Pleural Proximal-Type Epithelioid Sarcoma A rare epithelioid sarcoma of the proximal type that arises from the pleura. MONDO:0004244|MONDO:0006294 +MONDO:0856303 lung osteosarcoma NCIT:C188061 MONDO:equivalentTo Lung Osteosarcoma A rare extraskeletal osteosarcoma that arises from the lung parenchyma. MONDO:0002621|MONDO:0002426 +MONDO:0856304 pleural leiomyosarcoma NCIT:C188063 MONDO:equivalentTo Pleural Leiomyosarcoma A rare leiomyosarcoma that arises from the pleural cavity. MONDO:0006294|MONDO:0005058 +MONDO:0856305 bone malignant peripheral nerve sheath tumor NCIT:C188064 MONDO:equivalentTo Bone Malignant Peripheral Nerve Sheath Tumor An exceedingly rare malignant peripheral nerve sheath tumor that arises from the bone. MONDO:0021054|MONDO:0017827 +MONDO:0856308 lung secretory carcinoma NCIT:C188068 MONDO:equivalentTo Lung Secretory Carcinoma A rare carcinoma that arises from the lung and has histopathological, immunohistochemical, and genetic features identical to those described in breast and salivary gland secretory carcinomas. MONDO:0005138 +MONDO:0856309 prostate alveolar rhabdomyosarcoma NCIT:C188070 MONDO:equivalentTo Prostate Alveolar Rhabdomyosarcoma A rare alveolar rhabdomyosarcoma arising from the prostate gland. MONDO:0006389|MONDO:0009994 +MONDO:0856310 retroperitoneal rhabdomyosarcoma NCIT:C188071 MONDO:equivalentTo Retroperitoneal Rhabdomyosarcoma A rhabdomyosarcoma arising from the retroperitoneum. MONDO:0005212|MONDO:0001501 +MONDO:0856312 retroperitoneal malignant peripheral nerve sheath tumor NCIT:C188073 MONDO:equivalentTo Retroperitoneal Malignant Peripheral Nerve Sheath Tumor Malignant peripheral nerve sheath tumor that arises in the retroperitoneum. MONDO:0001501|MONDO:0017827 +MONDO:0856313 rectal epithelioid cell melanoma NCIT:C188079 MONDO:equivalentTo Rectal Epithelioid Cell Melanoma An epithelioid cell melanoma arising from the rectum. MONDO:0002167|MONDO:0002973 +MONDO:0856316 lung anaplastic large cell lymphoma NCIT:C188082 MONDO:equivalentTo Lung Anaplastic Large Cell Lymphoma A rare anaplastic large cell lymphoma that arises in the lung parenchyma. MONDO:0020644|MONDO:0020325 +MONDO:0856325 adrenal cortical myxoid carcinoma NCIT:C188182 MONDO:equivalentTo Adrenal Cortical Myxoid Carcinoma A carcinoma that arises from the adrenal cortex and is characterized by the presence of abundant extracellular connective tissue mucin. MONDO:0006639 +MONDO:0856326 adrenal cortical high grade carcinoma NCIT:C188183 MONDO:equivalentTo Adrenal Cortical High Grade Carcinoma A carcinoma that arises from the adrenal cortex and is characterized by the presence of more than twenty mitoses per ten square millimeters. MONDO:0006639 +MONDO:0856327 adrenal cortical melanoma NCIT:C188185 MONDO:equivalentTo Adrenal Cortical Melanoma A rare melanoma that arises within the adrenal cortex. MONDO:0021312|MONDO:0006320 +MONDO:0856335 neuroendocrine tumor NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor A well-differentiated neuroendocrine neoplasm of low, intermediate, or high grade. MONDO:0019496 +MONDO:0856336 head and neck neuroendocrine neoplasm NCIT:C188222 MONDO:equivalentTo Head and Neck Neuroendocrine Neoplasm A neoplasm with neuroendocrine differentiation that arises from the head and neck. This category includes neuroendocrine tumors, neuroendocrine carcinomas, and paragangliomas. MONDO:0019496|MONDO:0005586 +MONDO:0856338 adrenal gland lipoma NCIT:C188250 MONDO:equivalentTo Adrenal Gland Lipoma A rare lipoma that arises from the adrenal gland. MONDO:0021511|MONDO:0005106 +MONDO:0856339 adrenal gland hemangioma NCIT:C188251 MONDO:equivalentTo Adrenal Gland Hemangioma A rare hemangioma that arises from the adrenal gland. MONDO:0021511|MONDO:0006500 +MONDO:0856340 adrenal gland lymphangioma NCIT:C188252 MONDO:equivalentTo Adrenal Gland Lymphangioma A rare lymphangioma that arises from the adrenal gland. MONDO:0002013|MONDO:0021511 +MONDO:0856341 adrenal gland leiomyoma NCIT:C188253 MONDO:equivalentTo Adrenal Gland Leiomyoma A rare leiomyoma that arises from the adrenal gland. MONDO:0021511|MONDO:0001572 +MONDO:0856343 multiple endocrine neoplasia type 5 NCIT:C188257 MONDO:equivalentTo Multiple Endocrine Neoplasia Type 5 An inherited neoplastic syndrome caused by mutations in the MYC-associated factor X (MAX) gene. It is associated with the development of paragangliomas/pheochromocytomas, pituitary neuroendocrine tumors, and parathyroid adenomas. Renal cell carcinomas, squamous cell carcinomas, breast carcinomas, lung carcinomas, and endometrial carcinomas have also been reported. MONDO:0017169 +MONDO:0856349 chronic phase primary myelofibrosis NCIT:C188314 MONDO:equivalentTo Chronic Phase Primary Myelofibrosis Primary myelofibrosis characterized by the presence of less than 10% blasts in the peripheral blood or bone marrow. MONDO:0009692 +MONDO:0856350 accelerated phase myeloproliferative neoplasm NCIT:C188315 MONDO:equivalentTo Accelerated Phase Myeloproliferative Neoplasm Rapid progression of a myeloproliferative neoplasm, characterized by the presence of myeloblasts accounting for 10-19% of the peripheral blood white cells or the nucleated cells in the bone marrow. MONDO:0020076 +MONDO:0856351 blast phase myeloproliferative neoplasm NCIT:C188316 MONDO:equivalentTo Blast Phase Myeloproliferative Neoplasm Transformation of a myeloproliferative neoplasm into acute myeloid leukemia, typically via accelerated phase myeloproliferative neoplasm. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow. MONDO:0020076 +MONDO:0856357 intraductal hyperplasia NCIT:C26458 MONDO:equivalentTo Intraductal Hyperplasia A hyperplasia of the intraductal cells. +MONDO:0856375 reticulosarcoma involving spleen NCIT:C26959 MONDO:equivalentTo Reticulosarcoma Involving Spleen An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes affecting the spleen. MONDO:0009975 +MONDO:0856376 lymphosarcoma involving spleen NCIT:C26960 MONDO:equivalentTo Lymphosarcoma Involving Spleen An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes affecting the spleen. MONDO:0004638 +MONDO:0856398 nonpigmented nevus NCIT:C27095 MONDO:equivalentTo Nonpigmented Nevus A benign nevus characterized by the absence of melanin pigment in the melanocytes. MONDO:0044794 MONDO:0856421 transplant-related disorder NCIT:C27233 MONDO:equivalentTo Transplant-Related Disorder -MONDO:0856422 familial adenomatous polyposis associated medulloblastoma NCIT:C27237 MONDO:equivalentTo Familial Adenomatous Polyposis Associated Medulloblastoma MONDO:0007959 +MONDO:0856422 familial adenomatous polyposis associated medulloblastoma NCIT:C27237 MONDO:equivalentTo Familial Adenomatous Polyposis Associated Medulloblastoma A medulloblastoma developing in patients with familiar adenomatous polyposis syndrome. It is observed in patients with Turcot syndrome, type 2. MONDO:0007959 MONDO:0856423 lymphoma by stage NCIT:C27268 MONDO:equivalentTo Lymphoma by Stage MONDO:0005062 MONDO:0856424 glandular cell intraepithelial neoplasia NCIT:C27269 MONDO:equivalentTo Glandular Cell Intraepithelial Neoplasia MONDO:0024474|MONDO:0024276 -MONDO:0856425 secondary myelodysplastic syndrome NCIT:C27280 MONDO:equivalentTo Secondary Myelodysplastic Syndrome MONDO:0024881|MONDO:0018881 -MONDO:0856428 metastatic ewing sarcoma/peripheral primitive neuroectodermal tumor NCIT:C27292 MONDO:equivalentTo Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor MONDO:0024880|MONDO:0021038 -MONDO:0856443 unresectable malignant neoplasm NCIT:C27359 MONDO:equivalentTo Unresectable Malignant Neoplasm MONDO:0004992 -MONDO:0856447 mucin-producing adenocarcinoma NCIT:C27379 MONDO:equivalentTo Mucin-Producing Adenocarcinoma MONDO:0020596|MONDO:0004970 -MONDO:0856451 extraosseous/peripheral ameloblastoma NCIT:C27396 MONDO:equivalentTo Extraosseous/Peripheral Ameloblastoma MONDO:0017795 -MONDO:0856452 ampulla of vater intestinal-type adenocarcinoma NCIT:C27415 MONDO:equivalentTo Ampulla of Vater Intestinal-Type Adenocarcinoma MONDO:0002670|MONDO:0006254 -MONDO:0856453 ampulla of vater undifferentiated carcinoma NCIT:C27419 MONDO:equivalentTo Ampulla of Vater Undifferentiated Carcinoma MONDO:0017590|MONDO:0005617 -MONDO:0856456 small intestinal gastrin-producing neuroendocrine tumor NCIT:C27450 MONDO:equivalentTo Small Intestinal Gastrin-Producing Neuroendocrine Tumor MONDO:0002995|MONDO:0003523 -MONDO:0856457 small intestinal enterochromaffin cell serotonin-producing neuroendocrine tumor NCIT:C27451 MONDO:equivalentTo Small Intestinal Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor MONDO:0002995 -MONDO:0856458 small intestinal somatostatin-producing neuroendocrine tumor NCIT:C27453 MONDO:equivalentTo Small Intestinal Somatostatin-Producing Neuroendocrine Tumor MONDO:0002995|MONDO:0006976 -MONDO:0856460 colorectal adenoma with moderate dysplasia NCIT:C27457 MONDO:equivalentTo Colorectal Adenoma with Moderate Dysplasia MONDO:0005484 -MONDO:0856461 colorectal adenoma with mild dysplasia NCIT:C27458 MONDO:equivalentTo Colorectal Adenoma with Mild Dysplasia MONDO:0005484 -MONDO:0856463 disseminated malignant neoplasm NCIT:C27470 MONDO:equivalentTo Disseminated Malignant Neoplasm MONDO:0024880 -MONDO:0856464 bone lipoma NCIT:C27475 MONDO:equivalentTo Bone Lipoma MONDO:0000631|MONDO:0005106 -MONDO:0856465 bone schwannoma NCIT:C27476 MONDO:equivalentTo Bone Schwannoma MONDO:0000631|MONDO:0004820 -MONDO:0856468 secondary chondrosarcoma NCIT:C27482 MONDO:equivalentTo Secondary Chondrosarcoma MONDO:0021054|MONDO:0024881|MONDO:0008977 -MONDO:0856469 conventional alveolar rhabdomyosarcoma NCIT:C27492 MONDO:equivalentTo Conventional Alveolar Rhabdomyosarcoma MONDO:0009994 -MONDO:0856470 solid alveolar rhabdomyosarcoma NCIT:C27493 MONDO:equivalentTo Solid Alveolar Rhabdomyosarcoma MONDO:0009994 -MONDO:0856471 lymphadenopathic kaposi sarcoma NCIT:C27500 MONDO:equivalentTo Lymphadenopathic Kaposi Sarcoma MONDO:0001082|MONDO:0005055 -MONDO:0856472 conventional extraskeletal myxoid chondrosarcoma NCIT:C27501 MONDO:equivalentTo Conventional Extraskeletal Myxoid Chondrosarcoma MONDO:0012825 -MONDO:0856473 intra-abdominal lymphangioma NCIT:C27508 MONDO:equivalentTo Intra-Abdominal Lymphangioma MONDO:0002013 -MONDO:0856474 angiosarcoma associated with lymphedema NCIT:C27512 MONDO:equivalentTo Angiosarcoma Associated with Lymphedema MONDO:0016982 -MONDO:0856475 desmoplastic fibroblastoma NCIT:C27515 MONDO:equivalentTo Desmoplastic Fibroblastoma MONDO:0005167 -MONDO:0856477 columnar trichoblastoma NCIT:C27524 MONDO:equivalentTo Columnar Trichoblastoma MONDO:0020593 -MONDO:0856478 tubular apocrine adenoma NCIT:C27527 MONDO:equivalentTo Tubular Apocrine Adenoma MONDO:0002804 -MONDO:0856479 primary cutaneous mucinous carcinoma NCIT:C27533 MONDO:equivalentTo Primary Cutaneous Mucinous Carcinoma MONDO:0005524|MONDO:0004957 -MONDO:0856501 oral cavity disorder NCIT:C27641 MONDO:equivalentTo Oral Cavity Disorder -MONDO:0856504 sinonasal disorder NCIT:C27647 MONDO:equivalentTo Sinonasal Disorder -MONDO:0856509 human papillomavirus-related verrucous carcinoma NCIT:C27678 MONDO:equivalentTo Human Papillomavirus-Related Verrucous Carcinoma MONDO:0006006|MONDO:0020657 -MONDO:0856510 human papillomavirus-related vulvar squamous cell carcinoma NCIT:C27679 MONDO:equivalentTo Human Papillomavirus-Related Vulvar Squamous Cell Carcinoma MONDO:0024609|MONDO:0020657 -MONDO:0856511 human papillomavirus-related esophageal squamous cell carcinoma NCIT:C27680 MONDO:equivalentTo Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma MONDO:0005580|MONDO:0020657 -MONDO:0856512 human papillomavirus-related anal squamous cell carcinoma NCIT:C27681 MONDO:equivalentTo Human Papillomavirus-Related Anal Squamous Cell Carcinoma MONDO:0006082|MONDO:0020657 -MONDO:0856518 ebv-related post-transplant lymphoproliferative disorder NCIT:C27696 MONDO:equivalentTo EBV-Related Post-Transplant Lymphoproliferative Disorder -MONDO:0856523 extragastrointestinal gastrointestinal stromal tumor NCIT:C27716 MONDO:equivalentTo Extragastrointestinal Gastrointestinal Stromal Tumor MONDO:0011719 -MONDO:0856526 myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia NCIT:C27726 MONDO:equivalentTo Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia MONDO:0019157 -MONDO:0856529 typical acute promyelocytic leukemia NCIT:C27756 MONDO:equivalentTo Typical Acute Promyelocytic Leukemia MONDO:0012883 -MONDO:0856530 microgranular acute promyelocytic leukemia NCIT:C27757 MONDO:equivalentTo Microgranular Acute Promyelocytic Leukemia MONDO:0012883 -MONDO:0856539 myelodysplastic/myeloproliferative neoplasm, not otherwise specified NCIT:C27780 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm, Not Otherwise Specified MONDO:0006311 -MONDO:0856541 spindle cell type gastrointestinal stromal tumor NCIT:C27792 MONDO:equivalentTo Spindle Cell Type Gastrointestinal Stromal Tumor MONDO:0011719 -MONDO:0856542 mixed cell type gastrointestinal stromal tumor NCIT:C27793 MONDO:equivalentTo Mixed Cell Type Gastrointestinal Stromal Tumor MONDO:0011719 +MONDO:0856425 secondary myelodysplastic syndrome NCIT:C27280 MONDO:equivalentTo Secondary Myelodysplastic Syndrome A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer or exposure to certain chemicals. MONDO:0018881|MONDO:0024881 +MONDO:0856428 metastatic ewing sarcoma/peripheral primitive neuroectodermal tumor NCIT:C27292 MONDO:equivalentTo Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor A small round cell tumor with or without neural differentiation that has spread from its original site of growth to another anatomic site. MONDO:0021038|MONDO:0024880 +MONDO:0856443 unresectable malignant neoplasm NCIT:C27359 MONDO:equivalentTo Unresectable Malignant Neoplasm A malignant neoplasm which is not amenable to surgical resection. MONDO:0004992 +MONDO:0856447 mucin-producing adenocarcinoma NCIT:C27379 MONDO:equivalentTo Mucin-Producing Adenocarcinoma An invasive adenocarcinoma composed of malignant glandular cells which produce mucin. MONDO:0020596|MONDO:0004970 +MONDO:0856451 extraosseous/peripheral ameloblastoma NCIT:C27396 MONDO:equivalentTo Extraosseous/Peripheral Ameloblastoma An ameloblastoma that arises from the soft tissues in the gingiva or alveolar mucosa. It presents as a painless exophytic mass. MONDO:0017795 +MONDO:0856452 ampulla of vater intestinal-type adenocarcinoma NCIT:C27415 MONDO:equivalentTo Ampulla of Vater Intestinal-Type Adenocarcinoma An invasive adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of intestinal-type malignant epithelial cells. MONDO:0002670|MONDO:0006254 +MONDO:0856453 ampulla of vater undifferentiated carcinoma NCIT:C27419 MONDO:equivalentTo Ampulla of Vater Undifferentiated Carcinoma An aggressive carcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of malignant epithelial cells without evidence of glandular or squamous differentiation. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. MONDO:0017590|MONDO:0005617 +MONDO:0856456 small intestinal gastrin-producing neuroendocrine tumor NCIT:C27450 MONDO:equivalentTo Small Intestinal Gastrin-Producing Neuroendocrine Tumor A gastrin-producing neuroendocrine tumor that arises from the small intestine. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. MONDO:0002995|MONDO:0003523 +MONDO:0856457 small intestinal enterochromaffin cell serotonin-producing neuroendocrine tumor NCIT:C27451 MONDO:equivalentTo Small Intestinal Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor A well differentiated neuroendocrine tumor that arises from the small intestine and produces serotonin. MONDO:0002995 +MONDO:0856458 small intestinal somatostatin-producing neuroendocrine tumor NCIT:C27453 MONDO:equivalentTo Small Intestinal Somatostatin-Producing Neuroendocrine Tumor A somatostatin-producing neuroendocrine tumor that arises from the small intestine. MONDO:0002995|MONDO:0006976 +MONDO:0856460 colorectal adenoma with moderate dysplasia NCIT:C27457 MONDO:equivalentTo Colorectal Adenoma with Moderate Dysplasia An adenoma that arises from the colon or rectum. It is characterized by the presence of moderate epithelial dysplasia. MONDO:0005484 +MONDO:0856461 colorectal adenoma with mild dysplasia NCIT:C27458 MONDO:equivalentTo Colorectal Adenoma with Mild Dysplasia An adenoma that arises from the colon or rectum. It is characterized by the presence of mild epithelial dysplasia. MONDO:0005484 +MONDO:0856463 disseminated malignant neoplasm NCIT:C27470 MONDO:equivalentTo Disseminated Malignant Neoplasm Cancer that is spread throughout the body, a metastatic phenomenon. MONDO:0024880 +MONDO:0856464 bone lipoma NCIT:C27475 MONDO:equivalentTo Bone Lipoma A benign neoplasm which is composed of adipocytes and arises from the surface of the bone or the medullary cavity. MONDO:0000631|MONDO:0005106 +MONDO:0856465 bone schwannoma NCIT:C27476 MONDO:equivalentTo Bone Schwannoma A very rare schwannoma of the bone. It is often located in the mandible and is well circumscribed. MONDO:0004820|MONDO:0000631 +MONDO:0856468 secondary chondrosarcoma NCIT:C27482 MONDO:equivalentTo Secondary Chondrosarcoma A chondrosarcoma that arises either in a pre-existing enchondroma or within the cartilaginous cap of a pre-existing osteochondroma. MONDO:0021054|MONDO:0024881|MONDO:0008977 +MONDO:0856469 conventional alveolar rhabdomyosarcoma NCIT:C27492 MONDO:equivalentTo Conventional Alveolar Rhabdomyosarcoma An alveolar rhabdomyosarcoma characterized by the presence of large striated muscle cells with clear cytoplasm, giant cells with myoblastic differentiation, and fibrovascular septa. MONDO:0009994 +MONDO:0856470 solid alveolar rhabdomyosarcoma NCIT:C27493 MONDO:equivalentTo Solid Alveolar Rhabdomyosarcoma A morphologic variant of alveolar rhabdomyosarcoma. It is characterized by the presence of a solid growth pattern and the absence of fibrovascular stroma. MONDO:0009994 +MONDO:0856471 lymphadenopathic kaposi sarcoma NCIT:C27500 MONDO:equivalentTo Lymphadenopathic Kaposi Sarcoma A Kaposi sarcoma affecting the lymph nodes. MONDO:0001082|MONDO:0005055 +MONDO:0856472 conventional extraskeletal myxoid chondrosarcoma NCIT:C27501 MONDO:equivalentTo Conventional Extraskeletal Myxoid Chondrosarcoma A well differentiated extraskeletal myxoid chondrosarcoma. MONDO:0012825 +MONDO:0856473 intra-abdominal lymphangioma NCIT:C27508 MONDO:equivalentTo Intra-Abdominal Lymphangioma A lymphangioma arising from the organs of the abdominal cavity. MONDO:0002013 +MONDO:0856474 angiosarcoma associated with lymphedema NCIT:C27512 MONDO:equivalentTo Angiosarcoma Associated with Lymphedema An angiosarcoma that develops in association with long standing lymphedema. MONDO:0016982 +MONDO:0856475 desmoplastic fibroblastoma NCIT:C27515 MONDO:equivalentTo Desmoplastic Fibroblastoma A rare benign soft tissue neoplasm characterized by the presence of an abundant collagenous or myxocollagenous matrix, spindle-shaped, and stellate-shaped fibroblasts. It usually presents as an asymptomatic, slowly growing subcutaneous mass. The most common sites of involvement are the upper arm, shoulder, and lower limb. MONDO:0005167 +MONDO:0856477 columnar trichoblastoma NCIT:C27524 MONDO:equivalentTo Columnar Trichoblastoma A benign adnexal tumor occurring in the face of young female subjects. It is characterized by the presence of epithelial neoplastic cells and keratinous cysts in a desmoplastic stroma. MONDO:0020593 +MONDO:0856478 tubular apocrine adenoma NCIT:C27527 MONDO:equivalentTo Tubular Apocrine Adenoma A benign dermal adnexal neoplasm with apocrine differentiation. It usually occurs in the scalp and has a female predilection. It presents as an asymptomatic solitary nodule. It is characterized by a lobular architecture. The lobules are composed by tubular structures lined by epithelial cells. There is no cytologic atypia or mitotic figures present. MONDO:0002804 +MONDO:0856479 primary cutaneous mucinous carcinoma NCIT:C27533 MONDO:equivalentTo Primary Cutaneous Mucinous Carcinoma A rare low-grade carcinoma of the sweat glands. The most common sites are eyelids, scalp, axilla, face and trunk. It is histologically characterized by proliferating ducts until the overproduction of mucin creates islands of tumor cells, essentially floating in mucinous pools (Rosai J. Ackerman's Surgical Pathology). MONDO:0005524|MONDO:0004957 +MONDO:0856501 oral cavity disorder NCIT:C27641 MONDO:equivalentTo Oral Cavity Disorder A non-neoplastic or neoplastic disorder affecting the oral cavity. +MONDO:0856504 sinonasal disorder NCIT:C27647 MONDO:equivalentTo Sinonasal Disorder A non-neoplastic or neoplastic disorder that affects the nasal cavity or paranasal sinuses. Representative examples include inflammatory disorders, papillomas, and carcinomas. +MONDO:0856509 human papillomavirus-related verrucous carcinoma NCIT:C27678 MONDO:equivalentTo Human Papillomavirus-Related Verrucous Carcinoma A verrucous carcinoma that is associated with human papillomavirus infection. MONDO:0020657|MONDO:0006006 +MONDO:0856510 human papillomavirus-related vulvar squamous cell carcinoma NCIT:C27679 MONDO:equivalentTo Human Papillomavirus-Related Vulvar Squamous Cell Carcinoma A squamous cell carcinoma that arises from the vulva and is caused by human papillomavirus infection. MONDO:0020657|MONDO:0024609 +MONDO:0856511 human papillomavirus-related esophageal squamous cell carcinoma NCIT:C27680 MONDO:equivalentTo Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma An esophageal squamous cell carcinoma that arises from squamous epithelial cells infected with human papillomavirus. MONDO:0005580|MONDO:0020657 +MONDO:0856512 human papillomavirus-related anal squamous cell carcinoma NCIT:C27681 MONDO:equivalentTo Human Papillomavirus-Related Anal Squamous Cell Carcinoma An anal squamous cell carcinoma related to infection with sexually transmittable human papillomavirus. MONDO:0020657|MONDO:0006082 +MONDO:0856518 ebv-related post-transplant lymphoproliferative disorder NCIT:C27696 MONDO:equivalentTo EBV-Related Post-Transplant Lymphoproliferative Disorder A lymphoproliferative disorder that develops following organ transplantation and is associated with Epstein-Barr virus infection. +MONDO:0856523 extragastrointestinal gastrointestinal stromal tumor NCIT:C27716 MONDO:equivalentTo Extragastrointestinal Gastrointestinal Stromal Tumor A rare gastrointestinal stromal tumor that presents as a solitary mass outside the gastrointestinal tract. MONDO:0011719 +MONDO:0856526 myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia NCIT:C27726 MONDO:equivalentTo Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia A myelodysplastic syndrome characterized by bi-cytopenia or pancytopenia, dysplastic changes in 10% or more of the cells in two or more of the myeloid cell lines, and 15% or more ring sideroblasts in the bone marrow. (WHO, 2001) MONDO:0019157 +MONDO:0856529 typical acute promyelocytic leukemia NCIT:C27756 MONDO:equivalentTo Typical Acute Promyelocytic Leukemia Acute Promyelocytic leukemia characterized by the presence of hypergranular promyelocytes and characteristic cells that contain bundles of Auer rods. MONDO:0012883 +MONDO:0856530 microgranular acute promyelocytic leukemia NCIT:C27757 MONDO:equivalentTo Microgranular Acute Promyelocytic Leukemia Acute promyelocytic leukemia in which the promyelocytes in the peripheral blood have paucity or absence of cytoplasmic granules and characteristic bilobed nuclei. MONDO:0012883 +MONDO:0856539 myelodysplastic/myeloproliferative neoplasm, not otherwise specified NCIT:C27780 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm, Not Otherwise Specified A myelodysplastic/myeloproliferative neoplasm that does not meet the criteria of other myelodysplastic/myeloproliferative neoplasms, myelodysplastic syndromes, and myeloproliferative neoplasms. It is associated with cytopenia, blasts less than 20% in bone marrow and peripheral blood, thrombocytosis, and absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions. MONDO:0006311 +MONDO:0856541 spindle cell type gastrointestinal stromal tumor NCIT:C27792 MONDO:equivalentTo Spindle Cell Type Gastrointestinal Stromal Tumor A gastrointestinal stromal tumor composed of neoplastic spindle cells. MONDO:0011719 +MONDO:0856542 mixed cell type gastrointestinal stromal tumor NCIT:C27793 MONDO:equivalentTo Mixed Cell Type Gastrointestinal Stromal Tumor A gastrointestinal stromal tumor composed of a mixture of neoplastic epithelioid and spindle cells. MONDO:0011719 MONDO:0856545 nodular sclerosis classic hodgkin lymphoma, syncytial variant NCIT:C27807 MONDO:equivalentTo Nodular Sclerosis Classic Hodgkin Lymphoma, Syncytial Variant MONDO:0004665 -MONDO:0856546 pigmented nevus NCIT:C27816 MONDO:equivalentTo Pigmented Nevus MONDO:0044794 +MONDO:0856546 pigmented nevus NCIT:C27816 MONDO:equivalentTo Pigmented Nevus A nevus characterised by the presence of excessive pigment. MONDO:0044794 MONDO:0856549 invasive breast carcinoma by histologic grade NCIT:C27829 MONDO:equivalentTo Invasive Breast Carcinoma by Histologic Grade MONDO:0006256 -MONDO:0856551 endometrial endometrioid adenocarcinoma with clear cell change NCIT:C27843 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma with Clear Cell Change MONDO:0006192|MONDO:0005004 -MONDO:0856552 endometrial endometrioid adenocarcinoma with a poorly differentiated carcinomatous component NCIT:C27844 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma with a Poorly Differentiated Carcinomatous Component MONDO:0006192 -MONDO:0856553 endometrial endometrioid adenocarcinoma with an undifferentiated carcinomatous component NCIT:C27845 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma with an Undifferentiated Carcinomatous Component MONDO:0006192 -MONDO:0856554 endometrial endometrioid adenocarcinoma, ciliated variant NCIT:C27848 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma, Ciliated Variant MONDO:0006192 +MONDO:0856551 endometrial endometrioid adenocarcinoma with clear cell change NCIT:C27843 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma with Clear Cell Change A morphologic variant of endometrioid adenocarcinoma characterized by the presence of large multinucleated clear cells. MONDO:0006192|MONDO:0005004 +MONDO:0856552 endometrial endometrioid adenocarcinoma with a poorly differentiated carcinomatous component NCIT:C27844 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma with a Poorly Differentiated Carcinomatous Component A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of a component with poorly differentiated carcinoma cells. MONDO:0006192 +MONDO:0856553 endometrial endometrioid adenocarcinoma with an undifferentiated carcinomatous component NCIT:C27845 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma with an Undifferentiated Carcinomatous Component A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of a component with undifferentiated malignant cells. MONDO:0006192 +MONDO:0856554 endometrial endometrioid adenocarcinoma, ciliated variant NCIT:C27848 MONDO:equivalentTo Endometrial Endometrioid Adenocarcinoma, Ciliated Variant An endometrioid adenocarcinoma arising from the endometrium, in which ciliated cells line the majority of the malignant glands. MONDO:0006192 MONDO:0856567 transitional cell intraepithelial neoplasia NCIT:C27881 MONDO:equivalentTo Transitional Cell Intraepithelial Neoplasia MONDO:0024474|MONDO:0037254 -MONDO:0856569 type 1 papillary renal cell carcinoma NCIT:C27886 MONDO:equivalentTo Type 1 Papillary Renal Cell Carcinoma MONDO:0017884 -MONDO:0856570 type 2 papillary renal cell carcinoma NCIT:C27887 MONDO:equivalentTo Type 2 Papillary Renal Cell Carcinoma MONDO:0017884 -MONDO:0856571 sporadic papillary renal cell carcinoma NCIT:C27890 MONDO:equivalentTo Sporadic Papillary Renal Cell Carcinoma MONDO:0017884 -MONDO:0856577 well differentiated prostate adenocarcinoma NCIT:C27905 MONDO:equivalentTo Well Differentiated Prostate Adenocarcinoma MONDO:0005082 -MONDO:0856578 moderately differentiated prostate adenocarcinoma NCIT:C27906 MONDO:equivalentTo Moderately Differentiated Prostate Adenocarcinoma MONDO:0005082 -MONDO:0856579 alkylating agent-related acute myeloid leukemia and myelodysplastic syndrome NCIT:C27913 MONDO:equivalentTo Alkylating Agent-Related Acute Myeloid Leukemia and Myelodysplastic Syndrome MONDO:0006450 -MONDO:0856580 sporadic burkitt lymphoma NCIT:C27914 MONDO:equivalentTo Sporadic Burkitt Lymphoma MONDO:0007243 -MONDO:0856582 poorly differentiated prostate adenocarcinoma NCIT:C27916 MONDO:equivalentTo Poorly Differentiated Prostate Adenocarcinoma MONDO:0005082 -MONDO:0856592 metaplastic carcinoma NCIT:C27949 MONDO:equivalentTo Metaplastic Carcinoma MONDO:0004993 -MONDO:0856593 squamous cell carcinoma in situ of the nipple NCIT:C28292 MONDO:equivalentTo Squamous Cell Carcinoma In Situ of the Nipple MONDO:0003950|MONDO:0004693 -MONDO:0856599 biliary system disorder NCIT:C2899 MONDO:equivalentTo Biliary System Disorder -MONDO:0856602 enchondroma NCIT:C3007 MONDO:equivalentTo Enchondroma MONDO:0002360|MONDO:0000631 -MONDO:0856604 pancreatic glucagon-producing neuroendocrine tumor NCIT:C3062 MONDO:equivalentTo Pancreatic Glucagon-Producing Neuroendocrine Tumor MONDO:0019954 -MONDO:0856606 chronic phase chronic myeloid leukemia, bcr-abl1 positive NCIT:C3175 MONDO:equivalentTo Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive MONDO:0001014|MONDO:0011996 -MONDO:0856607 myeloid leukemia, philadelphia-negative NCIT:C3176 MONDO:equivalentTo Myeloid Leukemia, Philadelphia-Negative MONDO:0004643 -MONDO:0856608 neoplasm by site NCIT:C3263 MONDO:equivalentTo Neoplasm by Site MONDO:0005070 -MONDO:0856610 osteochondroma NCIT:C3295 MONDO:equivalentTo Osteochondroma MONDO:0000631|MONDO:0024470 -MONDO:0856611 extra-adrenal paraganglioma NCIT:C3309 MONDO:equivalentTo Extra-Adrenal Paraganglioma MONDO:0000448 -MONDO:0856614 supratentorial neoplasm NCIT:C3397 MONDO:equivalentTo Supratentorial Neoplasm MONDO:0021211 -MONDO:0856615 thyroid gland nodule NCIT:C3415 MONDO:equivalentTo Thyroid Gland Nodule -MONDO:0856638 grade 3 follicular lymphoma NCIT:C3460 MONDO:equivalentTo Grade 3 Follicular Lymphoma MONDO:0018906|MONDO:0017595 +MONDO:0856569 type 1 papillary renal cell carcinoma NCIT:C27886 MONDO:equivalentTo Type 1 Papillary Renal Cell Carcinoma A papillary renal cell carcinoma characterized by the presence of papillae covered by small cells with scant amount of cytoplasm. The cells are arranged in a single layer on the basement membrane of the papillae. MONDO:0017884 +MONDO:0856570 type 2 papillary renal cell carcinoma NCIT:C27887 MONDO:equivalentTo Type 2 Papillary Renal Cell Carcinoma A papillary renal cell carcinoma characterized by the presence of papillae covered by cells of a higher nuclear grade as compared to type 1 papillary renal cell carcinoma. The cells have eosinophilic cytoplasm and pseudostratified nuclei. MONDO:0017884 +MONDO:0856571 sporadic papillary renal cell carcinoma NCIT:C27890 MONDO:equivalentTo Sporadic Papillary Renal Cell Carcinoma A papillary renal cell carcinoma that occurs in a patient who does not have a family history of papillary renal cell carcinoma nor is a carrier of an inherited DNA change that would increase the risk of developing this carcinoma. MONDO:0017884 +MONDO:0856577 well differentiated prostate adenocarcinoma NCIT:C27905 MONDO:equivalentTo Well Differentiated Prostate Adenocarcinoma An invasive prostate adenocarcinoma characterized by the presence of well differentiated malignant glandular epithelial components. MONDO:0005082 +MONDO:0856578 moderately differentiated prostate adenocarcinoma NCIT:C27906 MONDO:equivalentTo Moderately Differentiated Prostate Adenocarcinoma An invasive prostate adenocarcinoma characterized by the presence of malignant cells exhibiting moderate differentiation. MONDO:0005082 +MONDO:0856579 alkylating agent-related acute myeloid leukemia and myelodysplastic syndrome NCIT:C27913 MONDO:equivalentTo Alkylating Agent-Related Acute Myeloid Leukemia and Myelodysplastic Syndrome Acute myeloid leukemias and myelodysplastic syndromes arising as a result of the mutagenic effect of alkylating agents that are used for the treatment of malignant tumors. Patients usually develop a myelodysplastic syndrome which may evolve to a higher grade myelodysplastic syndrome or acute myeloid leukemia. A minority of patients present with an acute myeloid leukemia. Clonal cytogenetic abnormalities are frequently present and usually are unbalanced translocations or deletions of chromosomes 5 and 7. Patients with acute myeloid leukemia usually do not respond to treatment and have an unfavorable clinical outcome. MONDO:0006450 +MONDO:0856580 sporadic burkitt lymphoma NCIT:C27914 MONDO:equivalentTo Sporadic Burkitt Lymphoma A clinical variant of Burkitt lymphoma that occurs throughout the world. It affects both children and adults and is more frequently seen in males. MONDO:0007243 +MONDO:0856582 poorly differentiated prostate adenocarcinoma NCIT:C27916 MONDO:equivalentTo Poorly Differentiated Prostate Adenocarcinoma An invasive prostate adenocarcinoma characterized by the presence of poorly differentiated malignant cells. MONDO:0005082 +MONDO:0856592 metaplastic carcinoma NCIT:C27949 MONDO:equivalentTo Metaplastic Carcinoma A general term used to describe carcinomas arising from epithelial cells that have been transformed into another cells type (metaplastic epithelial cells). A representative example is the adenocarcinoma arising in Barrett esophagus. This term is also used to describe carcinomas in which the malignant epithelial cells show differentiation towards another cell type. A representative example of the latter is the metaplastic breast carcinoma in which the malignant glandular cells show squamous, spindle cell, or chondroid/osseous differentiation. MONDO:0004993 +MONDO:0856593 squamous cell carcinoma in situ of the nipple NCIT:C28292 MONDO:equivalentTo Squamous Cell Carcinoma In Situ of the Nipple An intraepidermal squamous cell carcinoma involving the area of the nipple. MONDO:0004693|MONDO:0003950 +MONDO:0856599 biliary system disorder NCIT:C2899 MONDO:equivalentTo Biliary System Disorder A non-neoplastic or neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts or the gallbladder. Representative examples of non-neoplastic disorders include cholangitis and cholecystitis. Representative examples of neoplastic disorders include extrahepatic bile duct adenoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. +MONDO:0856602 enchondroma NCIT:C3007 MONDO:equivalentTo Enchondroma A common benign hyaline cartilage neoplasm arising in the intramedullary bone. It is characterized by the presence of chondrocytes, low mitotic activity, and in some cases, a nodular pattern and calcification. The small bones of the hands and feet are the most frequently affected sites. MONDO:0000631|MONDO:0002360 +MONDO:0856604 pancreatic glucagon-producing neuroendocrine tumor NCIT:C3062 MONDO:equivalentTo Pancreatic Glucagon-Producing Neuroendocrine Tumor A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may or may not be associated with inappropriate secretion of glucagon and an associated clinical syndrome. MONDO:0019954 +MONDO:0856606 chronic phase chronic myeloid leukemia, bcr-abl1 positive NCIT:C3175 MONDO:equivalentTo Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive A phase of chronic myeloid leukemia, BCR-ABL1 positive in which the peripheral blood smear shows leukocytosis with neutrophils in different stages of maturation, less than 2% blasts, and normal or increased platelet count. Most patients have mild anemia. The bone marrow is hypercellular due to increased numbers of neutrophils and their precursors, and blasts usually account for fewer than 5% of the marrow cells. Megakaryocytes are smaller than normal and have hypolobated nuclei. The spleen is enlarged due to infiltration of the cords of the red pulp by granulocytes. MONDO:0001014|MONDO:0011996 +MONDO:0856607 myeloid leukemia, philadelphia-negative NCIT:C3176 MONDO:equivalentTo Myeloid Leukemia, Philadelphia-Negative Myeloid leukemia characterized by the absence of Philadelphia chromosome. MONDO:0004643 +MONDO:0856608 neoplasm by site NCIT:C3263 MONDO:equivalentTo Neoplasm by Site A term that refers to the classification of a neoplastic process according to the anatomic site that is involved. MONDO:0005070 +MONDO:0856610 osteochondroma NCIT:C3295 MONDO:equivalentTo Osteochondroma A common, benign cartiliginous neoplasm arising from the metaphysis of bone. The tumor grows on the surface of the bone; it may be pedunculated or sessile. It is characterized by the presence of chondrocytes, a cartilage cap, and a fibrous perichondrium that extends to the periosteum of the bone. In some cases, there is deletion of 8q24.1 chromosome locus. MONDO:0000631|MONDO:0024470 +MONDO:0856611 extra-adrenal paraganglioma NCIT:C3309 MONDO:equivalentTo Extra-Adrenal Paraganglioma A paraganglioma arising from sympathetic or parasympathetic paraganglia outside the adrenal gland. MONDO:0000448 +MONDO:0856614 supratentorial neoplasm NCIT:C3397 MONDO:equivalentTo Supratentorial Neoplasm A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. MONDO:0021211 +MONDO:0856615 thyroid gland nodule NCIT:C3415 MONDO:equivalentTo Thyroid Gland Nodule A nodular lesion that develops in the thyroid gland. Causes include adenoma, thyroiditis, fluid-filled cyst, multinodular goiter, and carcinoma. +MONDO:0856638 grade 3 follicular lymphoma NCIT:C3460 MONDO:equivalentTo Grade 3 Follicular Lymphoma A follicular lymphoma which contains more than 15 centroblasts per 40X high-power microscopic field. MONDO:0018906|MONDO:0017595 MONDO:0856655 lobular capillary hemangioma NCIT:C3480 MONDO:equivalentTo Lobular Capillary Hemangioma MONDO:0002407 -MONDO:0856661 epithelioid cell type gastrointestinal stromal tumor NCIT:C3486 MONDO:equivalentTo Epithelioid Cell Type Gastrointestinal Stromal Tumor MONDO:0011719 -MONDO:0856691 uterine corpus degenerated leiomyoma NCIT:C3511 MONDO:equivalentTo Uterine Corpus Degenerated Leiomyoma MONDO:0007886 -MONDO:0856703 eyelid vascular disorder NCIT:C35198 MONDO:equivalentTo Eyelid Vascular Disorder -MONDO:0856706 placental polyp NCIT:C3521 MONDO:equivalentTo Placental Polyp MONDO:0021498|MONDO:0005079 -MONDO:0856715 chondromatosis NCIT:C35259 MONDO:equivalentTo Chondromatosis MONDO:0024470 -MONDO:0856716 malignant submandibular gland neoplasm NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm MONDO:0021244|MONDO:0044743 -MONDO:0856723 malignant palate neoplasm NCIT:C3530 MONDO:equivalentTo Malignant Palate Neoplasm MONDO:0005515|MONDO:0005286 -MONDO:0856758 malignant neoplasm of multiple primary sites NCIT:C35427 MONDO:equivalentTo Malignant Neoplasm of Multiple Primary Sites MONDO:0004992 -MONDO:0856764 behavioral disorder NCIT:C35470 MONDO:equivalentTo Behavioral Disorder -MONDO:0856772 lung kaposi sarcoma NCIT:C3551 MONDO:equivalentTo Lung Kaposi Sarcoma MONDO:0002426|MONDO:0005055 -MONDO:0856784 malignant exocervical neoplasm NCIT:C3554 MONDO:equivalentTo Malignant Exocervical Neoplasm MONDO:0002974 -MONDO:0856786 malignant uterine corpus neoplasm NCIT:C3556 MONDO:equivalentTo Malignant Uterine Corpus Neoplasm MONDO:0021254|MONDO:0002715 -MONDO:0856787 complex endometrial hyperplasia with atypia NCIT:C35560 MONDO:equivalentTo Complex Endometrial Hyperplasia with Atypia MONDO:0006169 -MONDO:0856810 mixed tumor of the salivary gland NCIT:C35691 MONDO:equivalentTo Mixed Tumor of the Salivary Gland MONDO:0021043|MONDO:0021357 -MONDO:0856811 posterior pharyngeal wall carcinoma NCIT:C35692 MONDO:equivalentTo Posterior Pharyngeal Wall Carcinoma MONDO:0021345 -MONDO:0856812 benign uvula neoplasm NCIT:C35698 MONDO:equivalentTo Benign Uvula Neoplasm MONDO:0021480 -MONDO:0856814 testicular teratoma with somatic-type malignancy NCIT:C35711 MONDO:equivalentTo Testicular Teratoma with Somatic-Type Malignancy MONDO:0003403|MONDO:0006444|MONDO:0018193 -MONDO:0856818 salivary gland lymphoepithelial carcinoma NCIT:C35736 MONDO:equivalentTo Salivary Gland Lymphoepithelial Carcinoma MONDO:0000521|MONDO:0003572 -MONDO:0856830 metastatic malignant neoplasm in the bone NCIT:C3580 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Bone MONDO:0002129|MONDO:0024880 -MONDO:0856835 monoblastic sarcoma NCIT:C35816 MONDO:equivalentTo Monoblastic Sarcoma MONDO:0006861 -MONDO:0856836 blastic granulocytic sarcoma NCIT:C35817 MONDO:equivalentTo Blastic Granulocytic Sarcoma MONDO:0006237 -MONDO:0856837 immature granulocytic sarcoma NCIT:C35818 MONDO:equivalentTo Immature Granulocytic Sarcoma MONDO:0006237 -MONDO:0856838 differentiated granulocytic sarcoma NCIT:C35819 MONDO:equivalentTo Differentiated Granulocytic Sarcoma MONDO:0006237 -MONDO:0856840 salivary gland cystadenoma NCIT:C35833 MONDO:equivalentTo Salivary Gland Cystadenoma MONDO:0021460|MONDO:0036976|MONDO:0002369 -MONDO:0856844 salivary gland ductal papilloma NCIT:C35839 MONDO:equivalentTo Salivary Gland Ductal Papilloma MONDO:0002363|MONDO:0021460 -MONDO:0856847 grade 1 clear cell renal cell carcinoma NCIT:C35851 MONDO:equivalentTo Grade 1 Clear Cell Renal Cell Carcinoma MONDO:0005005 -MONDO:0856848 grade 2 clear cell renal cell carcinoma NCIT:C35852 MONDO:equivalentTo Grade 2 Clear Cell Renal Cell Carcinoma MONDO:0005005 -MONDO:0856849 grade 3 clear cell renal cell carcinoma NCIT:C35853 MONDO:equivalentTo Grade 3 Clear Cell Renal Cell Carcinoma MONDO:0005005 -MONDO:0856850 grade 4 clear cell renal cell carcinoma NCIT:C35854 MONDO:equivalentTo Grade 4 Clear Cell Renal Cell Carcinoma MONDO:0005005 -MONDO:0856855 endemic african kaposi sarcoma NCIT:C35874 MONDO:equivalentTo Endemic African Kaposi Sarcoma MONDO:0005055 -MONDO:0856856 distantly metastatic malignant neoplasm NCIT:C35933 MONDO:equivalentTo Distantly Metastatic Malignant Neoplasm MONDO:0024880 -MONDO:0856857 malignant neoplasm by grade NCIT:C36041 MONDO:equivalentTo Malignant Neoplasm by Grade MONDO:0004992 -MONDO:0856858 moderately differentiated malignant neoplasm NCIT:C36049 MONDO:equivalentTo Moderately Differentiated Malignant Neoplasm MONDO:0004992 -MONDO:0856859 poorly differentiated malignant neoplasm NCIT:C36050 MONDO:equivalentTo Poorly Differentiated Malignant Neoplasm MONDO:0004992 -MONDO:0856860 undifferentiated malignant neoplasm NCIT:C36051 MONDO:equivalentTo Undifferentiated Malignant Neoplasm MONDO:0004992 -MONDO:0856861 well differentiated malignant neoplasm NCIT:C36052 MONDO:equivalentTo Well Differentiated Malignant Neoplasm MONDO:0004992 -MONDO:0856862 acute myeloid leukemia with t(11;17)(q23;q21); zbtb16-rara NCIT:C36056 MONDO:equivalentTo Acute Myeloid Leukemia with t(11;17)(q23;q21); ZBTB16-RARA MONDO:0100375 -MONDO:0856863 acute myeloid leukemia with t(5;17)(q35;q21); npm1-rara NCIT:C36057 MONDO:equivalentTo Acute Myeloid Leukemia with t(5;17)(q35;q21); NPM1-RARA MONDO:0100375 -MONDO:0856864 acute myeloid leukemia with t(11;17)(q13;q21); numa1-rara NCIT:C36058 MONDO:equivalentTo Acute Myeloid Leukemia with t(11;17)(q13;q21); NUMA1-RARA MONDO:0100375 -MONDO:0856865 chronic myelomonocytic leukemia with eosinophilia NCIT:C36060 MONDO:equivalentTo Chronic Myelomonocytic Leukemia with Eosinophilia MONDO:0020311 -MONDO:0856866 chronic myelomonocytic leukemia-1 NCIT:C36061 MONDO:equivalentTo Chronic Myelomonocytic Leukemia-1 MONDO:0020311 -MONDO:0856867 chronic myelomonocytic leukemia-2 NCIT:C36062 MONDO:equivalentTo Chronic Myelomonocytic Leukemia-2 MONDO:0020311 -MONDO:0856875 hereditary male breast carcinoma NCIT:C36106 MONDO:equivalentTo Hereditary Male Breast Carcinoma MONDO:0016419|MONDO:0005628 -MONDO:0856876 hereditary female breast carcinoma NCIT:C36107 MONDO:equivalentTo Hereditary Female Breast Carcinoma MONDO:0016419|MONDO:0004379 -MONDO:0856880 non-hereditary clear cell renal cell carcinoma NCIT:C36261 MONDO:equivalentTo Non-Hereditary Clear Cell Renal Cell Carcinoma MONDO:0005005 -MONDO:0856882 metastatic benign neoplasm NCIT:C36264 MONDO:equivalentTo Metastatic Benign Neoplasm MONDO:0005165|MONDO:0024883 -MONDO:0856883 lymphomatous adult t-cell leukemia/lymphoma NCIT:C36266 MONDO:equivalentTo Lymphomatous Adult T-Cell Leukemia/Lymphoma MONDO:0019471 -MONDO:0856884 hodgkin-like adult t-cell leukemia/lymphoma NCIT:C36268 MONDO:equivalentTo Hodgkin-Like Adult T-Cell Leukemia/Lymphoma MONDO:0019471 -MONDO:0856885 t-cell prolymphocytic leukemia, small cell variant NCIT:C36270 MONDO:equivalentTo T-Cell Prolymphocytic Leukemia, Small Cell Variant MONDO:0019468 -MONDO:0856886 t-cell prolymphocytic leukemia, cerebriform cell variant NCIT:C36271 MONDO:equivalentTo T-Cell Prolymphocytic Leukemia, Cerebriform Cell Variant MONDO:0019468 -MONDO:0856887 chronic lymphocytic leukemia with plasmacytoid differentiation NCIT:C36272 MONDO:equivalentTo Chronic Lymphocytic Leukemia with Plasmacytoid Differentiation MONDO:0004948 -MONDO:0856891 prostate carcinoma metastatic in the bone NCIT:C36308 MONDO:equivalentTo Prostate Carcinoma Metastatic in the Bone MONDO:0004956|MONDO:0024884 -MONDO:0856897 oncocytic adenocarcinoma NCIT:C3679 MONDO:equivalentTo Oncocytic Adenocarcinoma MONDO:0004970|MONDO:0010795 -MONDO:0856898 sweat gland tubular carcinoma NCIT:C3682 MONDO:equivalentTo Sweat Gland Tubular Carcinoma MONDO:0005524|MONDO:0005606 -MONDO:0856899 trabecular adenoma NCIT:C3688 MONDO:equivalentTo Trabecular Adenoma MONDO:0004972 -MONDO:0856900 carcinomatosis NCIT:C3693 MONDO:equivalentTo Carcinomatosis MONDO:0024879 -MONDO:0856901 papillary fibroelastoma NCIT:C3695 MONDO:equivalentTo Papillary Fibroelastoma MONDO:0021505 -MONDO:0856902 meningiomatosis NCIT:C3707 MONDO:equivalentTo Meningiomatosis MONDO:0016642 -MONDO:0856905 chronic lymphocytic leukemia with immunoglobulin heavy chain variable-region gene somatic hypermutation NCIT:C37202 MONDO:equivalentTo Chronic Lymphocytic Leukemia with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation MONDO:0004152|MONDO:0004948 -MONDO:0856906 chronic lymphocytic leukemia with unmutated immunoglobulin heavy chain variable-region gene NCIT:C37205 MONDO:equivalentTo Chronic Lymphocytic Leukemia with Unmutated Immunoglobulin Heavy Chain Variable-Region Gene MONDO:0004478|MONDO:0004948 -MONDO:0856907 high grade b-cell lymphoma with blastoid morphologic features NCIT:C37209 MONDO:equivalentTo High Grade B-Cell Lymphoma with Blastoid Morphologic Features MONDO:0044889 -MONDO:0856911 benign kidney mixed epithelial and stromal tumor NCIT:C37264 MONDO:equivalentTo Benign Kidney Mixed Epithelial and Stromal Tumor MONDO:0002513|MONDO:0002386 -MONDO:0856912 atypical small acinar proliferation of the prostate gland NCIT:C37268 MONDO:equivalentTo Atypical Small Acinar Proliferation of the Prostate Gland MONDO:0021259 -MONDO:0856914 head and neck basaloid squamous cell carcinoma NCIT:C37290 MONDO:equivalentTo Head and Neck Basaloid Squamous Cell Carcinoma MONDO:0003486|MONDO:0010150 -MONDO:0856915 mixed mesodermal (mullerian) tumor NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor MONDO:0021148|MONDO:0021043 -MONDO:0856917 abdominal (mesenteric) fibromatosis NCIT:C3741 MONDO:equivalentTo Abdominal (Mesenteric) Fibromatosis MONDO:0007608 -MONDO:0856918 adenomatous polyp NCIT:C3764 MONDO:equivalentTo Adenomatous Polyp MONDO:0006180|MONDO:0021075 -MONDO:0856920 giant cell carcinoma NCIT:C3779 MONDO:equivalentTo Giant Cell Carcinoma MONDO:0005232|MONDO:0002402|MONDO:0005617 -MONDO:0856923 renal cell carcinoma associated with t(x;1)(p11.2;q21) NCIT:C37872 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) MONDO:0006397 -MONDO:0856924 renal cell carcinoma associated with t(x;1)(p11.2;p34) NCIT:C37874 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) MONDO:0006397 -MONDO:0856925 renal cell carcinoma associated with t(x;17)(p11.2;q25) NCIT:C37876 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;17)(p11.2;q25) MONDO:0006397 -MONDO:0856927 angiofibroma NCIT:C3799 MONDO:equivalentTo Angiofibroma MONDO:0005167 -MONDO:0856930 dermatofibrosarcoma protuberans with myoid differentiation NCIT:C38105 MONDO:equivalentTo Dermatofibrosarcoma Protuberans with Myoid Differentiation MONDO:0011934 -MONDO:0856931 myxoid dermatofibrosarcoma protuberans NCIT:C38106 MONDO:equivalentTo Myxoid Dermatofibrosarcoma Protuberans MONDO:0011934 -MONDO:0856932 dedifferentiated dermatofibrosarcoma protuberans NCIT:C38107 MONDO:equivalentTo Dedifferentiated Dermatofibrosarcoma Protuberans MONDO:0011934 -MONDO:0856933 dermatofibrosarcoma protuberans with giant cell fibroblastoma-like differentiation NCIT:C38108 MONDO:equivalentTo Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like Differentiation MONDO:0011934 -MONDO:0856934 skin basal cell carcinoma with adnexal differentiation NCIT:C38109 MONDO:equivalentTo Skin Basal Cell Carcinoma with Adnexal Differentiation MONDO:0005341 -MONDO:0856938 clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres NCIT:C38154 MONDO:equivalentTo Clear Cell Myomelanocytic Tumor of the Falciform Ligament/Ligamentum Teres MONDO:0006359 -MONDO:0856939 metachronous malignant neoplasm NCIT:C38156 MONDO:equivalentTo Metachronous Malignant Neoplasm MONDO:0004992 -MONDO:0856940 plasmablastic lymphoma of mucosa site NCIT:C38159 MONDO:equivalentTo Plasmablastic Lymphoma of Mucosa Site MONDO:0017347 -MONDO:0856941 digestive system non-hodgkin lymphoma NCIT:C38161 MONDO:equivalentTo Digestive System Non-Hodgkin Lymphoma MONDO:0004699|MONDO:0018908 -MONDO:0856942 digestive system hodgkin lymphoma NCIT:C38163 MONDO:equivalentTo Digestive System Hodgkin Lymphoma MONDO:0004952|MONDO:0004699 -MONDO:0856943 acute myeloid leukemia with stat5b-rara NCIT:C38377 MONDO:equivalentTo Acute Myeloid Leukemia with STAT5B-RARA MONDO:0100375 -MONDO:0856945 traditional serrated adenoma NCIT:C38458 MONDO:equivalentTo Traditional Serrated Adenoma MONDO:0006180 -MONDO:0856947 benign female breast neoplasm NCIT:C3848 MONDO:equivalentTo Benign Female Breast Neoplasm MONDO:0000620 -MONDO:0856948 aggravated malignant neoplasm NCIT:C3851 MONDO:equivalentTo Aggravated Malignant Neoplasm MONDO:0004992 -MONDO:0856949 thyroid gland sclerosing mucoepidermoid carcinoma with eosinophilia NCIT:C38763 MONDO:equivalentTo Thyroid Gland Sclerosing Mucoepidermoid Carcinoma with Eosinophilia MONDO:0006463 -MONDO:0856951 grade 1 meningioma NCIT:C38936 MONDO:equivalentTo Grade 1 Meningioma MONDO:0016642 -MONDO:0856952 compound nevus NCIT:C3901 MONDO:equivalentTo Compound Nevus MONDO:0005073 -MONDO:0856963 t-cell large granular lymphocyte leukemia, common variant NCIT:C39584 MONDO:equivalentTo T-Cell Large Granular Lymphocyte Leukemia, Common Variant MONDO:0019469 -MONDO:0856964 t-cell large granular lymphocyte leukemia expressing the t-cell receptor gamma-delta NCIT:C39586 MONDO:equivalentTo T-Cell Large Granular Lymphocyte Leukemia Expressing the T-Cell Receptor Gamma-Delta MONDO:0019469 -MONDO:0856966 anaplastic large cell lymphoma, giant cell rich subtype NCIT:C39674 MONDO:equivalentTo Anaplastic Large Cell Lymphoma, Giant Cell Rich Subtype MONDO:0020325 -MONDO:0856967 anaplastic large cell lymphoma, sarcomatoid subtype NCIT:C39675 MONDO:equivalentTo Anaplastic Large Cell Lymphoma, Sarcomatoid Subtype MONDO:0020325 -MONDO:0856968 anaplastic large cell lymphoma, signet ring-like subtype NCIT:C39676 MONDO:equivalentTo Anaplastic Large Cell Lymphoma, Signet Ring-Like Subtype MONDO:0020325 -MONDO:0856969 pleomorphic variant mantle cell lymphoma NCIT:C39747 MONDO:equivalentTo Pleomorphic Variant Mantle Cell Lymphoma MONDO:0018876 -MONDO:0856970 type ii endometrial adenocarcinoma NCIT:C39749 MONDO:equivalentTo Type II Endometrial Adenocarcinoma MONDO:0005461 -MONDO:0856971 glioblastoma, idh-wildtype NCIT:C39750 MONDO:equivalentTo Glioblastoma, IDH-Wildtype MONDO:0018177 -MONDO:0856972 secondary glioblastoma NCIT:C39751 MONDO:equivalentTo Secondary Glioblastoma MONDO:0018177 -MONDO:0856973 conventional ameloblastoma NCIT:C39755 MONDO:equivalentTo Conventional Ameloblastoma MONDO:0017795 -MONDO:0856974 unicystic ameloblastoma NCIT:C39756 MONDO:equivalentTo Unicystic Ameloblastoma MONDO:0021077|MONDO:0017795 -MONDO:0856975 renal cell carcinoma with constitutional chromosome 3 translocations NCIT:C39790 MONDO:equivalentTo Renal Cell Carcinoma with Constitutional Chromosome 3 Translocations MONDO:0003008 -MONDO:0856976 renal cell carcinoma associated with inv(x)(p11;q12) NCIT:C39802 MONDO:equivalentTo Renal Cell Carcinoma Associated with inv(X)(p11;q12) MONDO:0006397 -MONDO:0856980 invasive bladder sarcomatoid urothelial carcinoma with heterologous elements NCIT:C39825 MONDO:equivalentTo Invasive Bladder Sarcomatoid Urothelial Carcinoma with Heterologous Elements MONDO:0004278 -MONDO:0856981 invasive bladder sarcomatoid urothelial carcinoma without heterologous elements NCIT:C39826 MONDO:equivalentTo Invasive Bladder Sarcomatoid Urothelial Carcinoma without Heterologous Elements MONDO:0004278 -MONDO:0856984 bladder adenocarcinoma, not otherwise specified NCIT:C39836 MONDO:equivalentTo Bladder Adenocarcinoma, Not Otherwise Specified MONDO:0002751 -MONDO:0856986 human papillomavirus-related urethral squamous cell carcinoma NCIT:C39862 MONDO:equivalentTo Human Papillomavirus-Related Urethral Squamous Cell Carcinoma MONDO:0002764|MONDO:0020657 -MONDO:0856987 bladder mucosa-associated lymphoid tissue lymphoma NCIT:C39878 MONDO:equivalentTo Bladder Mucosa-Associated Lymphoid Tissue Lymphoma MONDO:0001381|MONDO:0007650 -MONDO:0856988 prostate acinar adenocarcinoma, atrophic pattern NCIT:C39880 MONDO:equivalentTo Prostate Acinar Adenocarcinoma, Atrophic Pattern MONDO:0002493 -MONDO:0856989 prostate acinar pseudohyperplastic adenocarcinoma NCIT:C39881 MONDO:equivalentTo Prostate Acinar Pseudohyperplastic Adenocarcinoma MONDO:0002493 -MONDO:0856991 prostatic duct urothelial carcinoma NCIT:C39901 MONDO:equivalentTo Prostatic Duct Urothelial Carcinoma MONDO:0002834 -MONDO:0856992 testicular seminoma with syncytiotrophoblastic cells NCIT:C39919 MONDO:equivalentTo Testicular Seminoma with Syncytiotrophoblastic Cells MONDO:0003669 -MONDO:0856994 testicular seminoma with high mitotic index NCIT:C39920 MONDO:equivalentTo Testicular Seminoma with High Mitotic Index MONDO:0020633|MONDO:0003669 -MONDO:0856995 testicular spermatocytic tumor with sarcoma NCIT:C39922 MONDO:equivalentTo Testicular Spermatocytic Tumor with Sarcoma MONDO:0020513 -MONDO:0856996 monodermal testicular teratoma NCIT:C39936 MONDO:equivalentTo Monodermal Testicular Teratoma MONDO:0018193 -MONDO:0856997 testicular sertoli cell tumor, lipid rich variant NCIT:C39943 MONDO:equivalentTo Testicular Sertoli Cell Tumor, Lipid Rich Variant MONDO:0020813 -MONDO:0856998 testicular large cell calcifying sertoli cell tumor NCIT:C39944 MONDO:equivalentTo Testicular Large Cell Calcifying Sertoli Cell Tumor MONDO:0020808 -MONDO:0856999 testicular sclerosing sertoli cell tumor NCIT:C39945 MONDO:equivalentTo Testicular Sclerosing Sertoli Cell Tumor MONDO:0020813 -MONDO:0857002 tumor of the thecoma/fibroma group NCIT:C39950 MONDO:equivalentTo Tumor of the Thecoma/Fibroma Group MONDO:0006055 -MONDO:0857004 moderately differentiated ovarian sertoli-leydig cell tumor NCIT:C39968 MONDO:equivalentTo Moderately Differentiated Ovarian Sertoli-Leydig Cell Tumor MONDO:0036595 -MONDO:0857005 ovarian sertoli-leydig cell tumor with heterologous elements NCIT:C39970 MONDO:equivalentTo Ovarian Sertoli-Leydig Cell Tumor with Heterologous Elements MONDO:0036595 -MONDO:0857006 ovarian retiform sertoli-leydig cell tumor NCIT:C39971 MONDO:equivalentTo Ovarian Retiform Sertoli-Leydig Cell Tumor MONDO:0036595 -MONDO:0857007 ovarian sertoli-leydig cell tumor with retiform elements NCIT:C39974 MONDO:equivalentTo Ovarian Sertoli-Leydig Cell Tumor with Retiform Elements MONDO:0036595 -MONDO:0857008 ovarian stromal-leydig cell tumor NCIT:C39977 MONDO:equivalentTo Ovarian Stromal-Leydig Cell Tumor MONDO:0024387|MONDO:0020807 -MONDO:0857009 ovarian sex cord-stromal tumor, not otherwise specified NCIT:C39978 MONDO:equivalentTo Ovarian Sex Cord-Stromal Tumor, Not Otherwise Specified MONDO:0021657 -MONDO:0857012 malignant ovarian teratoma NCIT:C39995 MONDO:equivalentTo Malignant Ovarian Teratoma MONDO:0018171|MONDO:0003514|MONDO:0003821 -MONDO:0857014 borderline ovarian serous tumor/atypical proliferative ovarian serous tumor with microinvasion NCIT:C40027 MONDO:equivalentTo Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor with Microinvasion MONDO:0037255 -MONDO:0857015 borderline ovarian serous adenofibroma NCIT:C40028 MONDO:equivalentTo Borderline Ovarian Serous Adenofibroma MONDO:0024886|MONDO:0003462|MONDO:0020662 -MONDO:0857016 borderline ovarian mucinous tumor NCIT:C40036 MONDO:equivalentTo Borderline Ovarian Mucinous Tumor MONDO:0003756|MONDO:0016093 -MONDO:0857017 ovarian mucinous cystic tumor with mural nodules NCIT:C40042 MONDO:equivalentTo Ovarian Mucinous Cystic Tumor with Mural Nodules MONDO:0003756 -MONDO:0857018 ovarian mucinous cystic tumor associated with pseudomyxoma peritonei NCIT:C40043 MONDO:equivalentTo Ovarian Mucinous Cystic Tumor Associated with Pseudomyxoma Peritonei MONDO:0003756 -MONDO:0857022 borderline ovarian clear cell tumor NCIT:C40080 MONDO:equivalentTo Borderline Ovarian Clear Cell Tumor MONDO:0021144|MONDO:0016093 -MONDO:0857025 fallopian tube serous neoplasm NCIT:C40102 MONDO:equivalentTo Fallopian Tube Serous Neoplasm MONDO:0037256|MONDO:0021092 -MONDO:0857028 fallopian tube endometrioid polyp NCIT:C40115 MONDO:equivalentTo Fallopian Tube Endometrioid Polyp MONDO:0021075|MONDO:0021576 -MONDO:0857029 fallopian tube metaplastic papillary tumor NCIT:C40116 MONDO:equivalentTo Fallopian Tube Metaplastic Papillary Tumor MONDO:0021096|MONDO:0000645|MONDO:0036976 -MONDO:0857030 fallopian tube soft tissue neoplasm NCIT:C40126 MONDO:equivalentTo Fallopian Tube Soft Tissue Neoplasm MONDO:0006424|MONDO:0021092 -MONDO:0857031 type i endometrial adenocarcinoma NCIT:C40145 MONDO:equivalentTo Type I Endometrial Adenocarcinoma MONDO:0005461 -MONDO:0857033 figo grade 1 endometrial mucinous adenocarcinoma NCIT:C40149 MONDO:equivalentTo FIGO Grade 1 Endometrial Mucinous Adenocarcinoma MONDO:0002747 -MONDO:0857034 figo grade 2 endometrial mucinous adenocarcinoma NCIT:C40150 MONDO:equivalentTo FIGO Grade 2 Endometrial Mucinous Adenocarcinoma MONDO:0002747 -MONDO:0857035 figo grade 3 endometrial mucinous adenocarcinoma NCIT:C40151 MONDO:equivalentTo FIGO Grade 3 Endometrial Mucinous Adenocarcinoma MONDO:0002747 -MONDO:0857036 uterine corpus leiomyoma, mitotically active variant NCIT:C40162 MONDO:equivalentTo Uterine Corpus Leiomyoma, Mitotically Active Variant MONDO:0007886 -MONDO:0857037 uterine corpus soft tissue neoplasm NCIT:C40179 MONDO:equivalentTo Uterine Corpus Soft Tissue Neoplasm MONDO:0021254|MONDO:0006424 -MONDO:0857039 cervical squamous neoplasm NCIT:C40195 MONDO:equivalentTo Cervical Squamous Neoplasm MONDO:0002532|MONDO:0021230 -MONDO:0857040 cervical glandular neoplasm NCIT:C40210 MONDO:equivalentTo Cervical Glandular Neoplasm MONDO:0024276|MONDO:0021230 -MONDO:0857041 cervical soft tissue neoplasm NCIT:C40216 MONDO:equivalentTo Cervical Soft Tissue Neoplasm MONDO:0006424|MONDO:0021230 -MONDO:0857043 cervical mixed epithelial and mesenchymal neoplasm NCIT:C40226 MONDO:equivalentTo Cervical Mixed Epithelial and Mesenchymal Neoplasm MONDO:0021043|MONDO:0021230 -MONDO:0857045 vaginal keratinizing squamous cell carcinoma NCIT:C40243 MONDO:equivalentTo Vaginal Keratinizing Squamous Cell Carcinoma MONDO:0005056|MONDO:0006490 -MONDO:0857046 vaginal basaloid squamous cell carcinoma NCIT:C40245 MONDO:equivalentTo Vaginal Basaloid Squamous Cell Carcinoma MONDO:0003486|MONDO:0006490 -MONDO:0857047 vaginal endometrioid adenocarcinoma NCIT:C40251 MONDO:equivalentTo Vaginal Endometrioid Adenocarcinoma MONDO:0020653|MONDO:0005026 -MONDO:0857048 vaginal mucinous adenocarcinoma NCIT:C40252 MONDO:equivalentTo Vaginal Mucinous Adenocarcinoma MONDO:0020653|MONDO:0004957 -MONDO:0857049 vaginal mesonephric adenocarcinoma NCIT:C40253 MONDO:equivalentTo Vaginal Mesonephric Adenocarcinoma MONDO:0020653|MONDO:0005613 -MONDO:0857050 vaginal adenosquamous carcinoma NCIT:C40260 MONDO:equivalentTo Vaginal Adenosquamous Carcinoma MONDO:0015867|MONDO:0006074 -MONDO:0857051 vaginal adenoid basal carcinoma NCIT:C40262 MONDO:equivalentTo Vaginal Adenoid Basal Carcinoma MONDO:0015867 -MONDO:0857052 vaginal undifferentiated carcinoma NCIT:C40264 MONDO:equivalentTo Vaginal Undifferentiated Carcinoma MONDO:0015867|MONDO:0005617 -MONDO:0857053 vaginal soft tissue neoplasm NCIT:C40265 MONDO:equivalentTo Vaginal Soft Tissue Neoplasm MONDO:0021050|MONDO:0006424 -MONDO:0857056 vaginal mixed epithelial and mesenchymal neoplasm NCIT:C40274 MONDO:equivalentTo Vaginal Mixed Epithelial and Mesenchymal Neoplasm MONDO:0021043|MONDO:0021050 -MONDO:0857057 malignant vaginal mixed tumor resembling synovial sarcoma NCIT:C40279 MONDO:equivalentTo Malignant Vaginal Mixed Tumor Resembling Synovial Sarcoma MONDO:0037746 -MONDO:0857058 vulvar squamous cell carcinoma with tumor giant cells NCIT:C40289 MONDO:equivalentTo Vulvar Squamous Cell Carcinoma with Tumor Giant Cells MONDO:0024609 -MONDO:0857059 vulvar neoplasm of skin appendage origin NCIT:C40303 MONDO:equivalentTo Vulvar Neoplasm of Skin Appendage Origin MONDO:0002297|MONDO:0021049 -MONDO:0857061 vulvar soft tissue neoplasm NCIT:C40316 MONDO:equivalentTo Vulvar Soft Tissue Neoplasm MONDO:0021049|MONDO:0006424 -MONDO:0857062 superficial angiomyxoma NCIT:C40323 MONDO:equivalentTo Superficial Angiomyxoma MONDO:0006086 -MONDO:0857067 vulvar melanocytic neoplasm NCIT:C40335 MONDO:equivalentTo Vulvar Melanocytic Neoplasm MONDO:0021143|MONDO:0021049 -MONDO:0857071 breast carcinoma with osteoclast-like stromal giant cells NCIT:C40349 MONDO:equivalentTo Breast Carcinoma with Osteoclast-Like Stromal Giant Cells MONDO:0004953 -MONDO:0857072 breast carcinoma with choriocarcinomatous features NCIT:C40350 MONDO:equivalentTo Breast Carcinoma with Choriocarcinomatous Features MONDO:0004953 -MONDO:0857073 breast carcinoma with melanotic features NCIT:C40351 MONDO:equivalentTo Breast Carcinoma with Melanotic Features MONDO:0004953 -MONDO:0857075 low grade breast adenosquamous carcinoma NCIT:C40362 MONDO:equivalentTo Low Grade Breast Adenosquamous Carcinoma MONDO:0003548 -MONDO:0857076 acute myeloid leukemia arising from previous myelodysplastic syndrome NCIT:C4037 MONDO:equivalentTo Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome MONDO:0019457 -MONDO:0857078 postradiation breast angiosarcoma NCIT:C40378 MONDO:equivalentTo Postradiation Breast Angiosarcoma MONDO:0003024 -MONDO:0857080 salivary gland myoepithelial tumor NCIT:C40393 MONDO:equivalentTo Salivary Gland Myoepithelial Tumor MONDO:0002380|MONDO:0021357 -MONDO:0857083 breast soft tissue neoplasm NCIT:C40406 MONDO:equivalentTo Breast Soft Tissue Neoplasm MONDO:0006424|MONDO:0021100 -MONDO:0857084 breast pleomorphic adenoma NCIT:C40408 MONDO:equivalentTo Breast Pleomorphic Adenoma MONDO:0008401|MONDO:0002058 -MONDO:0857089 ovarian sex cord-stromal tumor associated with peutz-jeghers syndrome NCIT:C40436 MONDO:equivalentTo Ovarian Sex Cord-Stromal Tumor Associated with Peutz-Jeghers Syndrome MONDO:0021657 -MONDO:0857091 esophageal polyp NCIT:C4057 MONDO:equivalentTo Esophageal Polyp MONDO:0021459|MONDO:0024292 -MONDO:0857095 polycythemia vera, polycythemic phase NCIT:C41232 MONDO:equivalentTo Polycythemia Vera, Polycythemic Phase MONDO:0009891 -MONDO:0857096 polycythemia vera, post-polycythemic myelofibrosis phase NCIT:C41233 MONDO:equivalentTo Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase MONDO:0009891 -MONDO:0857097 overt primary myelofibrosis NCIT:C41238 MONDO:equivalentTo Overt Primary Myelofibrosis MONDO:0009692 -MONDO:0857098 metastatic adenocarcinoma NCIT:C4124 MONDO:equivalentTo Metastatic Adenocarcinoma MONDO:0004970|MONDO:0024879 -MONDO:0857100 solid carcinoma NCIT:C4137 MONDO:equivalentTo Solid Carcinoma MONDO:0004993 -MONDO:0857101 basophilic adenocarcinoma NCIT:C4150 MONDO:equivalentTo Basophilic Adenocarcinoma MONDO:0004970 -MONDO:0857102 juxtaglomerular cell tumor NCIT:C4162 MONDO:equivalentTo Juxtaglomerular Cell Tumor MONDO:0002513 -MONDO:0857103 adrenal cortical compact cell adenoma NCIT:C4163 MONDO:equivalentTo Adrenal Cortical Compact Cell Adenoma MONDO:0003924 -MONDO:0857104 pigmented adrenal cortical adenoma NCIT:C4164 MONDO:equivalentTo Pigmented Adrenal Cortical Adenoma MONDO:0003924 -MONDO:0857105 adrenal cortical clear cell adenoma NCIT:C4165 MONDO:equivalentTo Adrenal Cortical Clear Cell Adenoma MONDO:0003924|MONDO:0003426 -MONDO:0857106 adrenal cortical glomerulosa cell adenoma NCIT:C4166 MONDO:equivalentTo Adrenal Cortical Glomerulosa Cell Adenoma MONDO:0003924 -MONDO:0857107 adrenal cortical mixed cell adenoma NCIT:C4167 MONDO:equivalentTo Adrenal Cortical Mixed Cell Adenoma MONDO:0003421|MONDO:0003924 -MONDO:0857109 papillary serous cystadenoma NCIT:C4180 MONDO:equivalentTo Papillary Serous Cystadenoma MONDO:0005177|MONDO:0021091 -MONDO:0857110 serous surface papillary carcinoma NCIT:C4182 MONDO:equivalentTo Serous Surface Papillary Carcinoma MONDO:0005278|MONDO:0002512 -MONDO:0857111 papillary mucinous cystadenoma NCIT:C4184 MONDO:equivalentTo Papillary Mucinous Cystadenoma MONDO:0021091|MONDO:0006859 -MONDO:0857112 gliomatosis cerebri type i NCIT:C41842 MONDO:equivalentTo Gliomatosis Cerebri Type I MONDO:0016683 -MONDO:0857113 gliomatosis cerebri type ii NCIT:C41843 MONDO:equivalentTo Gliomatosis Cerebri Type II MONDO:0016683 -MONDO:0857115 thyroid gland medullary carcinoma with amyloid stroma NCIT:C4193 MONDO:equivalentTo Thyroid Gland Medullary Carcinoma with Amyloid Stroma MONDO:0015277 -MONDO:0857117 acinar cell neoplasm NCIT:C4197 MONDO:equivalentTo Acinar Cell Neoplasm MONDO:0024276 -MONDO:0857118 ovarian luteinized thecoma NCIT:C4203 MONDO:equivalentTo Ovarian Luteinized Thecoma MONDO:0037253 -MONDO:0857119 undifferentiated neuroblastoma NCIT:C42046 MONDO:equivalentTo Undifferentiated Neuroblastoma MONDO:0005072 -MONDO:0857120 poorly differentiated neuroblastoma NCIT:C42047 MONDO:equivalentTo Poorly Differentiated Neuroblastoma MONDO:0005072 -MONDO:0857121 malignant granulosa cell tumor NCIT:C4205 MONDO:equivalentTo Malignant Granulosa Cell Tumor MONDO:0006036 -MONDO:0857122 maturing ganglioneuroma NCIT:C42064 MONDO:equivalentTo Maturing Ganglioneuroma MONDO:0005033 -MONDO:0857123 mature ganglioneuroma NCIT:C42065 MONDO:equivalentTo Mature Ganglioneuroma MONDO:0005033 -MONDO:0857125 ovarian sex cord tumor with annular tubules NCIT:C4208 MONDO:equivalentTo Ovarian Sex Cord Tumor with Annular Tubules MONDO:0021657 -MONDO:0857126 well differentiated ovarian sertoli-leydig cell tumor NCIT:C4209 MONDO:equivalentTo Well Differentiated Ovarian Sertoli-Leydig Cell Tumor MONDO:0036595 -MONDO:0857127 poorly differentiated ovarian sertoli-leydig cell tumor NCIT:C4210 MONDO:equivalentTo Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor MONDO:0018172|MONDO:0036595 -MONDO:0857128 ovarian steroid cell tumor NCIT:C4215 MONDO:equivalentTo Ovarian Steroid Cell Tumor MONDO:0021657 -MONDO:0857129 balloon cell nevus NCIT:C4226 MONDO:equivalentTo Balloon Cell Nevus MONDO:0044794 -MONDO:0857130 regressing melanoma NCIT:C4228 MONDO:equivalentTo Regressing Melanoma MONDO:0005105 -MONDO:0857131 neuronevus NCIT:C4229 MONDO:equivalentTo Neuronevus MONDO:0006813 -MONDO:0857132 junctional nevus NCIT:C4231 MONDO:equivalentTo Junctional Nevus MONDO:0005073 -MONDO:0857133 melanoma in junctional nevus NCIT:C4232 MONDO:equivalentTo Melanoma in Junctional Nevus MONDO:0005012 -MONDO:0857134 type a spindle cell melanoma NCIT:C4238 MONDO:equivalentTo Type A Spindle Cell Melanoma MONDO:0006427 -MONDO:0857135 type b spindle cell melanoma NCIT:C4239 MONDO:equivalentTo Type B Spindle Cell Melanoma MONDO:0006427 -MONDO:0857136 melanoma arising in blue nevus NCIT:C4240 MONDO:equivalentTo Melanoma Arising in Blue Nevus MONDO:0005012 -MONDO:0857137 cellular blue nevus NCIT:C4241 MONDO:equivalentTo Cellular Blue Nevus MONDO:0006680 -MONDO:0857138 fibrolipoma NCIT:C4249 MONDO:equivalentTo Fibrolipoma MONDO:0005106 -MONDO:0857139 fibromyxolipoma NCIT:C4251 MONDO:equivalentTo Fibromyxolipoma MONDO:0005106 -MONDO:0857140 lipoblastomatosis NCIT:C4255 MONDO:equivalentTo Lipoblastomatosis MONDO:0044983 -MONDO:0857141 sporadic retinoblastoma NCIT:C42596 MONDO:equivalentTo Sporadic Retinoblastoma MONDO:0008380 -MONDO:0857144 acute myelomonocytic leukemia without abnormal eosinophils NCIT:C42779 MONDO:equivalentTo Acute Myelomonocytic Leukemia without Abnormal Eosinophils MONDO:0018871 -MONDO:0857145 pericardial solitary fibrous tumor NCIT:C4281 MONDO:equivalentTo Pericardial Solitary Fibrous Tumor MONDO:0016238|MONDO:0021381 -MONDO:0857146 benign hemangiopericytoma NCIT:C4300 MONDO:equivalentTo Benign Hemangiopericytoma MONDO:0005094 -MONDO:0857147 benign odontogenic neoplasm NCIT:C4306 MONDO:equivalentTo Benign Odontogenic Neoplasm MONDO:0021445|MONDO:0021192 -MONDO:0857152 pure cutaneous mastocytosis NCIT:C43277 MONDO:equivalentTo Pure Cutaneous Mastocytosis MONDO:0019023 -MONDO:0857155 germinative follicular epithelium neoplasm NCIT:C43311 MONDO:equivalentTo Germinative Follicular Epithelium Neoplasm MONDO:0003413|MONDO:0021634 -MONDO:0857156 adamantinoid trichoblastoma NCIT:C43312 MONDO:equivalentTo Adamantinoid Trichoblastoma MONDO:0020593 -MONDO:0857160 outer hair sheath and infundibulum neoplasm NCIT:C43324 MONDO:equivalentTo Outer Hair Sheath and Infundibulum Neoplasm MONDO:0003413 -MONDO:0857163 superficial epithelioma with sebaceous differentiation NCIT:C43334 MONDO:equivalentTo Superficial Epithelioma with Sebaceous Differentiation MONDO:0021490 -MONDO:0857164 sebaceoma NCIT:C43336 MONDO:equivalentTo Sebaceoma MONDO:0021490 -MONDO:0857165 extraocular cutaneous sebaceous carcinoma NCIT:C43341 MONDO:equivalentTo Extraocular Cutaneous Sebaceous Carcinoma MONDO:0006962 -MONDO:0857166 apocrine hidrocystoma NCIT:C43342 MONDO:equivalentTo Apocrine Hidrocystoma MONDO:0002804|MONDO:0006787 -MONDO:0857167 cylindrocarcinoma NCIT:C43344 MONDO:equivalentTo Cylindrocarcinoma MONDO:0005524|MONDO:0024878 -MONDO:0857168 ductal eccrine carcinoma with spindle cell elements NCIT:C43346 MONDO:equivalentTo Ductal Eccrine Carcinoma with Spindle Cell Elements MONDO:0024245 -MONDO:0857169 squamoid eccrine ductal carcinoma NCIT:C43347 MONDO:equivalentTo Squamoid Eccrine Ductal Carcinoma MONDO:0024245 -MONDO:0857170 ductal eccrine carcinoma with abundant fibromyxoid stroma NCIT:C43349 MONDO:equivalentTo Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma MONDO:0024245 -MONDO:0857171 sporadic cylindroma NCIT:C43351 MONDO:equivalentTo Sporadic Cylindroma MONDO:0021812 -MONDO:0857172 classic poroma NCIT:C43353 MONDO:equivalentTo Classic Poroma MONDO:0006738 -MONDO:0857173 porocarcinoma in situ NCIT:C43354 MONDO:equivalentTo Porocarcinoma In Situ MONDO:0006189 -MONDO:0857174 aleukemic lymphoid leukemia NCIT:C4343 MONDO:equivalentTo Aleukemic Lymphoid Leukemia MONDO:0005402|MONDO:0003730 -MONDO:0857175 sporadic gastric adenocarcinoma NCIT:C43527 MONDO:equivalentTo Sporadic Gastric Adenocarcinoma MONDO:0005036 -MONDO:0857177 small intestinal adenosquamous carcinoma NCIT:C43535 MONDO:equivalentTo Small Intestinal Adenosquamous Carcinoma MONDO:0005522|MONDO:0006074 -MONDO:0857178 small intestinal mucinous adenocarcinoma NCIT:C43536 MONDO:equivalentTo Small Intestinal Mucinous Adenocarcinoma MONDO:0003198|MONDO:0004957 -MONDO:0857179 small intestinal medullary carcinoma NCIT:C43537 MONDO:equivalentTo Small Intestinal Medullary Carcinoma MONDO:0005522 -MONDO:0857180 small intestinal undifferentiated carcinoma NCIT:C43538 MONDO:equivalentTo Small Intestinal Undifferentiated Carcinoma MONDO:0005522|MONDO:0005617 -MONDO:0857181 pituitary neuroendocrine tumor/microadenoma NCIT:C43541 MONDO:equivalentTo Pituitary Neuroendocrine Tumor/Microadenoma MONDO:0006373 -MONDO:0857182 pituitary neuroendocrine tumor/macroadenoma NCIT:C43542 MONDO:equivalentTo Pituitary Neuroendocrine Tumor/Macroadenoma MONDO:0006373 -MONDO:0857183 small intestinal signet ring cell carcinoma NCIT:C43543 MONDO:equivalentTo Small Intestinal Signet Ring Cell Carcinoma MONDO:0003198|MONDO:0005092 -MONDO:0857184 appendix tubular adenoma NCIT:C43546 MONDO:equivalentTo Appendix Tubular Adenoma MONDO:0006088|MONDO:0024660 -MONDO:0857185 appendix tubulovillous adenoma NCIT:C43547 MONDO:equivalentTo Appendix Tubulovillous Adenoma MONDO:0006088|MONDO:0024661 -MONDO:0857187 eyelid squamous papilloma NCIT:C4355 MONDO:equivalentTo Eyelid Squamous Papilloma MONDO:0021275|MONDO:0001825 -MONDO:0857188 small intestinal villous adenoma NCIT:C43551 MONDO:equivalentTo Small Intestinal Villous Adenoma MONDO:0000502|MONDO:0021303 -MONDO:0857189 appendix signet ring cell carcinoma NCIT:C43554 MONDO:equivalentTo Appendix Signet Ring Cell Carcinoma MONDO:0006087|MONDO:0005092 -MONDO:0857190 appendix undifferentiated carcinoma NCIT:C43556 MONDO:equivalentTo Appendix Undifferentiated Carcinoma MONDO:0003196|MONDO:0005617 -MONDO:0857191 appendix mixed adenoneuroendocrine carcinoma NCIT:C43564 MONDO:equivalentTo Appendix Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0003196 -MONDO:0857192 appendix tubular carcinoid NCIT:C43565 MONDO:equivalentTo Appendix Tubular Carcinoid MONDO:0015066 -MONDO:0857194 rectosigmoid adenocarcinoma NCIT:C43584 MONDO:equivalentTo Rectosigmoid Adenocarcinoma MONDO:0002424|MONDO:0005008 -MONDO:0857195 colorectal mucinous adenocarcinoma NCIT:C43585 MONDO:equivalentTo Colorectal Mucinous Adenocarcinoma MONDO:0005008|MONDO:0004957 -MONDO:0857196 colorectal undifferentiated carcinoma NCIT:C43591 MONDO:equivalentTo Colorectal Undifferentiated Carcinoma MONDO:0005617|MONDO:0024331 -MONDO:0857198 gallbladder adenocarcinoma, intestinal-type NCIT:C43604 MONDO:equivalentTo Gallbladder Adenocarcinoma, Intestinal-Type MONDO:0006215|MONDO:0006254 -MONDO:0857199 gallbladder clear cell adenocarcinoma NCIT:C43605 MONDO:equivalentTo Gallbladder Clear Cell Adenocarcinoma MONDO:0006215|MONDO:0005004 -MONDO:0857200 gallbladder flat biliary intraepithelial neoplasia NCIT:C43607 MONDO:equivalentTo Gallbladder Flat Biliary Intraepithelial Neoplasia MONDO:0006218 -MONDO:0857201 gallbladder papillary biliary intraepithelial neoplasia NCIT:C43609 MONDO:equivalentTo Gallbladder Papillary Biliary Intraepithelial Neoplasia MONDO:0006218 -MONDO:0857202 pleomorphic hepatocellular carcinoma NCIT:C43625 MONDO:equivalentTo Pleomorphic Hepatocellular Carcinoma MONDO:0007256 -MONDO:0857203 sarcomatoid hepatocellular carcinoma NCIT:C43627 MONDO:equivalentTo Sarcomatoid Hepatocellular Carcinoma MONDO:0007256 -MONDO:0857206 accessory urethral gland neoplasm NCIT:C4378 MONDO:equivalentTo Accessory Urethral Gland Neoplasm MONDO:0021239 -MONDO:0857208 clear cell intrahepatic cholangiocarcinoma NCIT:C43848 MONDO:equivalentTo Clear Cell Intrahepatic Cholangiocarcinoma MONDO:0005004|MONDO:0003210 +MONDO:0856661 epithelioid cell type gastrointestinal stromal tumor NCIT:C3486 MONDO:equivalentTo Epithelioid Cell Type Gastrointestinal Stromal Tumor A benign or malignant gastrointestinal stromal tumor with epithelioid morphology. MONDO:0011719 +MONDO:0856691 uterine corpus degenerated leiomyoma NCIT:C3511 MONDO:equivalentTo Uterine Corpus Degenerated Leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by the presence of hyalinized or myxoid stroma, edema, cystic changes, hemorrhage, and calcifications. MONDO:0007886 +MONDO:0856703 eyelid vascular disorder NCIT:C35198 MONDO:equivalentTo Eyelid Vascular Disorder Any non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels of the eyelid. +MONDO:0856706 placental polyp NCIT:C3521 MONDO:equivalentTo Placental Polyp A polyp in the uterine cavity that is formed by placenta remnants. MONDO:0021498|MONDO:0005079 +MONDO:0856715 chondromatosis NCIT:C35259 MONDO:equivalentTo Chondromatosis A multifocal benign neoplasm arising from bone or soft tissue. It is characterized by the presence of chondrocytes and is composed of hyaline cartilage. MONDO:0024470 +MONDO:0856716 malignant submandibular gland neoplasm NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm A malignant neoplasm that arises from the submandibular gland. The majority are carcinomas. MONDO:0021244|MONDO:0044743 +MONDO:0856723 malignant palate neoplasm NCIT:C3530 MONDO:equivalentTo Malignant Palate Neoplasm A primary or metastatic malignant neoplasm that affects the hard palate, soft palate, or uvula. MONDO:0005515|MONDO:0005286 +MONDO:0856758 malignant neoplasm of multiple primary sites NCIT:C35427 MONDO:equivalentTo Malignant Neoplasm of Multiple Primary Sites A malignant neoplasm arising in multiple primary sites. MONDO:0004992 +MONDO:0856764 behavioral disorder NCIT:C35470 MONDO:equivalentTo Behavioral Disorder A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment. +MONDO:0856772 lung kaposi sarcoma NCIT:C3551 MONDO:equivalentTo Lung Kaposi Sarcoma A Kaposi sarcoma arising from the lung. MONDO:0002426|MONDO:0005055 +MONDO:0856784 malignant exocervical neoplasm NCIT:C3554 MONDO:equivalentTo Malignant Exocervical Neoplasm A malignant neoplasm that affects the exocervix. MONDO:0002974 +MONDO:0856786 malignant uterine corpus neoplasm NCIT:C3556 MONDO:equivalentTo Malignant Uterine Corpus Neoplasm A malignant neoplasm that affects the uterine corpus. Representative examples include endometrial carcinoma, carcinosarcoma, leiomyosarcoma, and adenosarcoma. MONDO:0021254|MONDO:0002715 +MONDO:0856787 complex endometrial hyperplasia with atypia NCIT:C35560 MONDO:equivalentTo Complex Endometrial Hyperplasia with Atypia A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma. MONDO:0006169 +MONDO:0856810 mixed tumor of the salivary gland NCIT:C35691 MONDO:equivalentTo Mixed Tumor of the Salivary Gland A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma. MONDO:0021043|MONDO:0021357 +MONDO:0856811 posterior pharyngeal wall carcinoma NCIT:C35692 MONDO:equivalentTo Posterior Pharyngeal Wall Carcinoma A carcinoma that arises from the posterior wall of the pharynx. MONDO:0021345 +MONDO:0856812 benign uvula neoplasm NCIT:C35698 MONDO:equivalentTo Benign Uvula Neoplasm A non-metastasizing neoplasm that arises from the uvula. MONDO:0021480 +MONDO:0856814 testicular teratoma with somatic-type malignancy NCIT:C35711 MONDO:equivalentTo Testicular Teratoma with Somatic-Type Malignancy A testicular teratoma associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma). MONDO:0003403|MONDO:0006444|MONDO:0018193 +MONDO:0856818 salivary gland lymphoepithelial carcinoma NCIT:C35736 MONDO:equivalentTo Salivary Gland Lymphoepithelial Carcinoma A rare carcinoma that arises from the salivary glands, most often the parotid gland. It is characterized by the presence of an undifferentiated carcinomatous component associated with a prominent reactive lymphoplasmacytic infiltrate. MONDO:0000521|MONDO:0003572 +MONDO:0856830 metastatic malignant neoplasm in the bone NCIT:C3580 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Bone The spread of a malignant neoplasm from a primary site to the skeletal system. The majority of metastatic neoplasms to the bone are carcinomas. MONDO:0002129|MONDO:0024880 +MONDO:0856835 monoblastic sarcoma NCIT:C35816 MONDO:equivalentTo Monoblastic Sarcoma A less common form of myeloid sarcoma composed of monoblasts. Monoblastic sarcoma may precede or occur simultaneously with acute monoblastic leukemia. (WHO 2001) MONDO:0006861 +MONDO:0856836 blastic granulocytic sarcoma NCIT:C35817 MONDO:equivalentTo Blastic Granulocytic Sarcoma A granulocytic sarcoma composed primarily of myeloblasts (WHO 2001). MONDO:0006237 +MONDO:0856837 immature granulocytic sarcoma NCIT:C35818 MONDO:equivalentTo Immature Granulocytic Sarcoma A granulocytic sarcoma composed of myeloblasts and promyelocytes (WHO 2001). MONDO:0006237 +MONDO:0856838 differentiated granulocytic sarcoma NCIT:C35819 MONDO:equivalentTo Differentiated Granulocytic Sarcoma A granulocytic sarcoma composed of promyelocytes and more mature neutrophils (WHO 2001). MONDO:0006237 +MONDO:0856840 salivary gland cystadenoma NCIT:C35833 MONDO:equivalentTo Salivary Gland Cystadenoma An uncommon benign epithelial tumor, characterized by predominantly unicystic or multicystic growth; there is focal intraluminal papillary proliferation of the lining epithelium. Nearly half occur in the parotid gland. In the minor salivary glands, women are affected more than men. In the major salivary glands, cystadenomas present as slowly enlarging, asymptomatic masses that may be slightly compressible. Cystadenocarcinoma is the malignant counterpart. MONDO:0021460|MONDO:0036976|MONDO:0002369 +MONDO:0856844 salivary gland ductal papilloma NCIT:C35839 MONDO:equivalentTo Salivary Gland Ductal Papilloma A benign papillary neoplasm that arises from the salivary glands. This category includes intraductal papilloma, inverted ductal papilloma, and sialadenoma papilliferum. MONDO:0002363|MONDO:0021460 +MONDO:0856847 grade 1 clear cell renal cell carcinoma NCIT:C35851 MONDO:equivalentTo Grade 1 Clear Cell Renal Cell Carcinoma A clear cell renal cell carcinoma characterized by absent or inconspicuous and basophilic nucleoli at x 400 magnification. (WHO 1982 /ISUP 2014) MONDO:0005005 +MONDO:0856848 grade 2 clear cell renal cell carcinoma NCIT:C35852 MONDO:equivalentTo Grade 2 Clear Cell Renal Cell Carcinoma A clear cell renal cell carcinoma characterized by nucleoli conspicuous and eosinophilic at x 400 magnification, and visible but not prominent at x 100 magnification. (WHO 1982 /ISUP 2014) MONDO:0005005 +MONDO:0856849 grade 3 clear cell renal cell carcinoma NCIT:C35853 MONDO:equivalentTo Grade 3 Clear Cell Renal Cell Carcinoma A clear cell renal cell carcinoma characterized by nucleoli conspicuous and eosinophilic at x 100 magnification. (WHO 1982 /ISUP 2014) MONDO:0005005 +MONDO:0856850 grade 4 clear cell renal cell carcinoma NCIT:C35854 MONDO:equivalentTo Grade 4 Clear Cell Renal Cell Carcinoma A clear cell renal cell carcinoma characterized by extreme nuclear pleomorphism and/or sarcomatoid and/or rhabdoid differentiation and/or tumor giant cells. (WHO, 1982 /ISUP 2014) MONDO:0005005 +MONDO:0856855 endemic african kaposi sarcoma NCIT:C35874 MONDO:equivalentTo Endemic African Kaposi Sarcoma A Kaposi sarcoma that occurs in adults and children in Equatorial Africa. MONDO:0005055 +MONDO:0856856 distantly metastatic malignant neoplasm NCIT:C35933 MONDO:equivalentTo Distantly Metastatic Malignant Neoplasm A malignant tumor that has spread from its original (primary) site of growth to another site distant from the primary site. MONDO:0024880 +MONDO:0856857 malignant neoplasm by grade NCIT:C36041 MONDO:equivalentTo Malignant Neoplasm by Grade A term that refers to the categorization of malignant neoplasm by histologic grade. MONDO:0004992 +MONDO:0856858 moderately differentiated malignant neoplasm NCIT:C36049 MONDO:equivalentTo Moderately Differentiated Malignant Neoplasm A neoplasm whose histologic characteristics are intermediate between poorly differentiated and well differentiated. MONDO:0004992 +MONDO:0856859 poorly differentiated malignant neoplasm NCIT:C36050 MONDO:equivalentTo Poorly Differentiated Malignant Neoplasm A neoplasm whose histologic characteristics have regressed and are more similar to stem cells. MONDO:0004992 +MONDO:0856860 undifferentiated malignant neoplasm NCIT:C36051 MONDO:equivalentTo Undifferentiated Malignant Neoplasm A neoplasm that has minimal to no differentiating features. MONDO:0004992 +MONDO:0856861 well differentiated malignant neoplasm NCIT:C36052 MONDO:equivalentTo Well Differentiated Malignant Neoplasm A malignant neoplasm with morphological features reminiscent of the tissue from which it arose. MONDO:0004992 +MONDO:0856862 acute myeloid leukemia with t(11;17)(q23;q21); zbtb16-rara NCIT:C36056 MONDO:equivalentTo Acute Myeloid Leukemia with t(11;17)(q23;q21); ZBTB16-RARA Acute myeloid leukemia with the variant RARA t(11;17)(q23;q21) and the expression of ZBTB16-RARA fusion protein. It lacks differentiation response to retinoids treatment. MONDO:0100375 +MONDO:0856863 acute myeloid leukemia with t(5;17)(q35;q21); npm1-rara NCIT:C36057 MONDO:equivalentTo Acute Myeloid Leukemia with t(5;17)(q35;q21); NPM1-RARA Acute myeloid leukemia with the variant RARA t(5;17)(q35;q21) and the expression of NPM1-RARA fusion protein. MONDO:0100375 +MONDO:0856864 acute myeloid leukemia with t(11;17)(q13;q21); numa1-rara NCIT:C36058 MONDO:equivalentTo Acute Myeloid Leukemia with t(11;17)(q13;q21); NUMA1-RARA Acute myeloid leukemia with the variant RARA t(11;17)(q13;q21) and the expression of NUMA1-RARA fusion protein. MONDO:0100375 +MONDO:0856865 chronic myelomonocytic leukemia with eosinophilia NCIT:C36060 MONDO:equivalentTo Chronic Myelomonocytic Leukemia with Eosinophilia A chronic myelomonocytic leukemia characterized by a peripheral blood eosinophil count of equal or greater than 1.5x10E9/L, and absence of PDGFRA or PDGFRB gene abnormalities. MONDO:0020311 +MONDO:0856866 chronic myelomonocytic leukemia-1 NCIT:C36061 MONDO:equivalentTo Chronic Myelomonocytic Leukemia-1 A chronic myelomonocytic leukemia characterized by the presence of less than 10 percent blasts in the bone marrow and less than 5 percent blasts in the peripheral blood. MONDO:0020311 +MONDO:0856867 chronic myelomonocytic leukemia-2 NCIT:C36062 MONDO:equivalentTo Chronic Myelomonocytic Leukemia-2 A chronic myelomonocytic leukemia characterized by the presence of 10-19 percent blasts in the bone marrow and 5-19 percent blasts in the peripheral blood or by the presence of Auer rods regardless of the blasts count. MONDO:0020311 +MONDO:0856875 hereditary male breast carcinoma NCIT:C36106 MONDO:equivalentTo Hereditary Male Breast Carcinoma Breast carcinoma that has developed in male relatives of patients with history of breast carcinoma. MONDO:0016419|MONDO:0005628 +MONDO:0856876 hereditary female breast carcinoma NCIT:C36107 MONDO:equivalentTo Hereditary Female Breast Carcinoma Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma. MONDO:0016419|MONDO:0004379 +MONDO:0856880 non-hereditary clear cell renal cell carcinoma NCIT:C36261 MONDO:equivalentTo Non-Hereditary Clear Cell Renal Cell Carcinoma The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. MONDO:0005005 +MONDO:0856882 metastatic benign neoplasm NCIT:C36264 MONDO:equivalentTo Metastatic Benign Neoplasm A very rare benign neoplasm that metastasizes inexplicably. This category includes metastasizing pleomorphic adenoma of the salivary gland and uterine corpus metastasizing leiomyoma. MONDO:0005165|MONDO:0024883 +MONDO:0856883 lymphomatous adult t-cell leukemia/lymphoma NCIT:C36266 MONDO:equivalentTo Lymphomatous Adult T-Cell Leukemia/Lymphoma An adult T-cell leukemia/lymphoma characterized by generalized lymphadenopathy without peripheral blood involvement. Most patients have advanced disease, however hypercalcemia is not frequently present. MONDO:0019471 +MONDO:0856884 hodgkin-like adult t-cell leukemia/lymphoma NCIT:C36268 MONDO:equivalentTo Hodgkin-Like Adult T-Cell Leukemia/Lymphoma A rare morphologic variant of adult T-cell leukemia/lymphoma characterized by the presence of Hodgkin-like and Reed-Sternberg-like cells. MONDO:0019471 +MONDO:0856885 t-cell prolymphocytic leukemia, small cell variant NCIT:C36270 MONDO:equivalentTo T-Cell Prolymphocytic Leukemia, Small Cell Variant A T-cell prolymphocytic leukemia characterized by the presence of small neoplastic prolymphocytes often with invisible nucleolus by light microscopy. MONDO:0019468 +MONDO:0856886 t-cell prolymphocytic leukemia, cerebriform cell variant NCIT:C36271 MONDO:equivalentTo T-Cell Prolymphocytic Leukemia, Cerebriform Cell Variant A T-cell prolymphocytic leukemia characterized by the presence of neoplastic prolymphocytes with irregular or cerebriform nuclear outline. MONDO:0019468 +MONDO:0856887 chronic lymphocytic leukemia with plasmacytoid differentiation NCIT:C36272 MONDO:equivalentTo Chronic Lymphocytic Leukemia with Plasmacytoid Differentiation A chronic lymphocytic leukemia characterized by the presence of neoplastic lymphocytes with plasmacytoid morphology. MONDO:0004948 +MONDO:0856891 prostate carcinoma metastatic in the bone NCIT:C36308 MONDO:equivalentTo Prostate Carcinoma Metastatic in the Bone A carcinoma that arises from the prostate gland and has spread to the bone. MONDO:0004956|MONDO:0024884 +MONDO:0856897 oncocytic adenocarcinoma NCIT:C3679 MONDO:equivalentTo Oncocytic Adenocarcinoma An adenocarcinoma characterized by the presence of large malignant epithelial cells with abundant granular eosinophilic cytoplasm (oncocytes). Representative examples include thyroid gland oncocytic follicular carcinoma, oncocytic breast carcinoma, and salivary gland oncocytic carcinoma. MONDO:0004970|MONDO:0010795 +MONDO:0856898 sweat gland tubular carcinoma NCIT:C3682 MONDO:equivalentTo Sweat Gland Tubular Carcinoma An aggressive adenocarcinoma that arises from the sweat glands. It usually presents as a firm, erythematous nodular lesion in the axilla. Morphologically, it is characterized by the presence of tubular structures and apocrine differentiation. MONDO:0005524|MONDO:0005606 +MONDO:0856899 trabecular adenoma NCIT:C3688 MONDO:equivalentTo Trabecular Adenoma A benign epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. MONDO:0004972 +MONDO:0856900 carcinomatosis NCIT:C3693 MONDO:equivalentTo Carcinomatosis Carcinoma that has spread diffusely to an anatomic site or throughout the body. MONDO:0024879 +MONDO:0856901 papillary fibroelastoma NCIT:C3695 MONDO:equivalentTo Papillary Fibroelastoma A rare benign neoplasm of the endocardium. The vast majority of cases arise in the heart valves. Histopathologic examination reveals a papilloma lined by endothelial cells with a central avascular core which contains fibroblasts and elastic fibers. Patients may be asymptomatic or present with ischemic or embolic events. MONDO:0021505 +MONDO:0856902 meningiomatosis NCIT:C3707 MONDO:equivalentTo Meningiomatosis The presence of multiple meningiomas in the leptomeninges. MONDO:0016642 +MONDO:0856905 chronic lymphocytic leukemia with immunoglobulin heavy chain variable-region gene somatic hypermutation NCIT:C37202 MONDO:equivalentTo Chronic Lymphocytic Leukemia with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation Chronic lymphocytic leukemia characterized by the presence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a better prognosis as compared to those with unmutated immunoglobulin heavy chain gene variable region rearrangements. MONDO:0004948|MONDO:0004152 +MONDO:0856906 chronic lymphocytic leukemia with unmutated immunoglobulin heavy chain variable-region gene NCIT:C37205 MONDO:equivalentTo Chronic Lymphocytic Leukemia with Unmutated Immunoglobulin Heavy Chain Variable-Region Gene Chronic lymphocytic leukemia characterized by the absence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a significantly worse prognosis as compared to those with mutated immunoglobulin heavy chain gene variable region rearrangements. MONDO:0004478|MONDO:0004948 +MONDO:0856907 high grade b-cell lymphoma with blastoid morphologic features NCIT:C37209 MONDO:equivalentTo High Grade B-Cell Lymphoma with Blastoid Morphologic Features A high-grade B-cell lymphoma characterized by the presence of medium-size neoplastic lymphocytes with a scant amount of cytoplasm and inconspicuous nucleoli, resembling lymphoblasts. MONDO:0044889 +MONDO:0856911 benign kidney mixed epithelial and stromal tumor NCIT:C37264 MONDO:equivalentTo Benign Kidney Mixed Epithelial and Stromal Tumor A rare, benign neoplasm that most often manifests as a multiloculated cystic renal mass. It is characterized by the presence of solid and cystic components. The solid components contain a mixture of epithelial and stromal elements. MONDO:0002513|MONDO:0002386 +MONDO:0856912 atypical small acinar proliferation of the prostate gland NCIT:C37268 MONDO:equivalentTo Atypical Small Acinar Proliferation of the Prostate Gland Focal proliferation of small acinar glandular cells in the prostate gland with cytologic changes ranging from atypia to highly suggestive of malignancy. MONDO:0021259 +MONDO:0856914 head and neck basaloid squamous cell carcinoma NCIT:C37290 MONDO:equivalentTo Head and Neck Basaloid Squamous Cell Carcinoma A high-grade, aggressive variant of squamous cell carcinoma that arises from the head and neck region. The most common sites of origin are pyriform sinus, epiglottis, and base of tongue. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. Comedonecrosis may be present. MONDO:0010150|MONDO:0003486 +MONDO:0856915 mixed mesodermal (mullerian) tumor NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor A group of tumors affecting the female reproductive system, characterized by the presence of epithelial and stromal elements. It includes the following clinicopathological entities: adenofibroma, adenomyoma, Mullerian adenosarcoma, and malignant mixed mesodermal (Mullerian) tumor. MONDO:0021148|MONDO:0021043 +MONDO:0856917 abdominal (mesenteric) fibromatosis NCIT:C3741 MONDO:equivalentTo Abdominal (Mesenteric) Fibromatosis An insidious poorly circumscribed neoplasm arising from the deep soft tissues of the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern. MONDO:0007608 +MONDO:0856918 adenomatous polyp NCIT:C3764 MONDO:equivalentTo Adenomatous Polyp A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum.. MONDO:0006180|MONDO:0021075 +MONDO:0856920 giant cell carcinoma NCIT:C3779 MONDO:equivalentTo Giant Cell Carcinoma A malignant epithelial neoplasm composed of giant, pleomorphic cells. MONDO:0005232|MONDO:0002402|MONDO:0005617 +MONDO:0856923 renal cell carcinoma associated with t(x;1)(p11.2;q21) NCIT:C37872 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;q21) resulting in fusion of the PRCC and TFE3 genes. MONDO:0006397 +MONDO:0856924 renal cell carcinoma associated with t(x;1)(p11.2;p34) NCIT:C37874 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;p34) resulting in fusion of the PSF and TFE3 genes. MONDO:0006397 +MONDO:0856925 renal cell carcinoma associated with t(x;17)(p11.2;q25) NCIT:C37876 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;17)(p11.2;q25) A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;q25) resulting in fusion of the ASPL and TFE3 genes. MONDO:0006397 +MONDO:0856927 angiofibroma NCIT:C3799 MONDO:equivalentTo Angiofibroma A morphologic variant of fibroma characterized by the presence of numerous dilated vascular channels. MONDO:0005167 +MONDO:0856930 dermatofibrosarcoma protuberans with myoid differentiation NCIT:C38105 MONDO:equivalentTo Dermatofibrosarcoma Protuberans with Myoid Differentiation A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of areas of myofibroblastic differentiation. MONDO:0011934 +MONDO:0856931 myxoid dermatofibrosarcoma protuberans NCIT:C38106 MONDO:equivalentTo Myxoid Dermatofibrosarcoma Protuberans A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of extensive myxoid stroma formation and a storiform growth pattern. MONDO:0011934 +MONDO:0856932 dedifferentiated dermatofibrosarcoma protuberans NCIT:C38107 MONDO:equivalentTo Dedifferentiated Dermatofibrosarcoma Protuberans A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of poorly differentiated sarcomatous components. MONDO:0011934 +MONDO:0856933 dermatofibrosarcoma protuberans with giant cell fibroblastoma-like differentiation NCIT:C38108 MONDO:equivalentTo Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like Differentiation A morphologic variant of dermatofibrosarcoma protuberans characterized by areas of fibroblastoma like-differentiation, and the presence of giant cells. MONDO:0011934 +MONDO:0856934 skin basal cell carcinoma with adnexal differentiation NCIT:C38109 MONDO:equivalentTo Skin Basal Cell Carcinoma with Adnexal Differentiation A basal cell carcinoma of the skin that is characterized by adnexal differentiation. MONDO:0005341 +MONDO:0856938 clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres NCIT:C38154 MONDO:equivalentTo Clear Cell Myomelanocytic Tumor of the Falciform Ligament/Ligamentum Teres A very rare, usually benign neoplasm with perivascular epithelioid cell differentiation characterized by the presence of clear spindle cells arranged in fascicles and nests that usually affects young girls. Patients usually present with a painful abdominal mass. MONDO:0006359 +MONDO:0856939 metachronous malignant neoplasm NCIT:C38156 MONDO:equivalentTo Metachronous Malignant Neoplasm A malignant tumor that arises at a site separate from another, primary malignant tumor in the same anatomic system. It is not clear if metachronous malignant neoplasms represent new primary tumors or metastatic disease. Examples include metachronous osteosarcoma of the bones that develops in patients with known primary bone osteosarcoma, and metachronous Wilms' tumor that affects the opposite kidney in patients with a history of Wilms' tumor. MONDO:0004992 +MONDO:0856940 plasmablastic lymphoma of mucosa site NCIT:C38159 MONDO:equivalentTo Plasmablastic Lymphoma of Mucosa Site A plasmablastic lymphoma that arises from a mucosal site. MONDO:0017347 +MONDO:0856941 digestive system non-hodgkin lymphoma NCIT:C38161 MONDO:equivalentTo Digestive System Non-Hodgkin Lymphoma A non-Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. MONDO:0018908|MONDO:0004699 +MONDO:0856942 digestive system hodgkin lymphoma NCIT:C38163 MONDO:equivalentTo Digestive System Hodgkin Lymphoma A Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. MONDO:0004699|MONDO:0004952 +MONDO:0856943 acute myeloid leukemia with stat5b-rara NCIT:C38377 MONDO:equivalentTo Acute Myeloid Leukemia with STAT5B-RARA Acute myeloid leukemia with variant RARA rearrangement and expression of STAT5B-RARA fusion protein. MONDO:0100375 +MONDO:0856945 traditional serrated adenoma NCIT:C38458 MONDO:equivalentTo Traditional Serrated Adenoma An adenoma that arises from the large intestine and the appendix. It is characterized by prominent serration of the glands. MONDO:0006180 +MONDO:0856947 benign female breast neoplasm NCIT:C3848 MONDO:equivalentTo Benign Female Breast Neoplasm A neoplasm that arises from the breast in females and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0000620 +MONDO:0856948 aggravated malignant neoplasm NCIT:C3851 MONDO:equivalentTo Aggravated Malignant Neoplasm A malignant neoplasm that shows clinical and/or pathologic progression. MONDO:0004992 +MONDO:0856949 thyroid gland sclerosing mucoepidermoid carcinoma with eosinophilia NCIT:C38763 MONDO:equivalentTo Thyroid Gland Sclerosing Mucoepidermoid Carcinoma with Eosinophilia A rare type of mucoepidermoid carcinoma of the thyroid gland, usually associated with chronic lymphocytic thyroiditis. It exhibits a unique morphologic appearance consisting of a squamoid, nested growth pattern, dense fibrosis, and mucinous differentiation. The histogenesis of this unusual carcinoma has been debated, and it is unclear if it arises from remnants of the ultimobranchial body or from the follicular epithelial cells. MONDO:0006463 +MONDO:0856951 grade 1 meningioma NCIT:C38936 MONDO:equivalentTo Grade 1 Meningioma A benign meningioma which may recur in approximately 7-20% of the cases. This category includes the angiomatous meningioma, fibrous meningioma, lymphoplasmacyte-rich meningioma, meningothelial meningioma, metaplastic meningioma, microcystic meningioma, psammomatous meningioma, secretory meningioma, and transitional meningioma. MONDO:0016642 +MONDO:0856952 compound nevus NCIT:C3901 MONDO:equivalentTo Compound Nevus A nevus composed of neoplastic melanocytes that infiltrate both the epidermis and the dermis. MONDO:0005073 +MONDO:0856963 t-cell large granular lymphocyte leukemia, common variant NCIT:C39584 MONDO:equivalentTo T-Cell Large Granular Lymphocyte Leukemia, Common Variant T-cell large granular lymphocyte leukemia defined by the presence of CD3-positive, CD8-positive, and T-cell receptor alpha-beta-positive cytotoxic T-cells. MONDO:0019469 +MONDO:0856964 t-cell large granular lymphocyte leukemia expressing the t-cell receptor gamma-delta NCIT:C39586 MONDO:equivalentTo T-Cell Large Granular Lymphocyte Leukemia Expressing the T-Cell Receptor Gamma-Delta An uncommon variant of T-cell large granular lymphocyte leukemia expressing the gamma-delta T-cell receptor. Approximately 60% of these cases are CD8-positive and the remainder are CD4/CD8-negative. MONDO:0019469 +MONDO:0856966 anaplastic large cell lymphoma, giant cell rich subtype NCIT:C39674 MONDO:equivalentTo Anaplastic Large Cell Lymphoma, Giant Cell Rich Subtype An anaplastic large cell lymphoma characterized by the presence of numerous giant cells. MONDO:0020325 +MONDO:0856967 anaplastic large cell lymphoma, sarcomatoid subtype NCIT:C39675 MONDO:equivalentTo Anaplastic Large Cell Lymphoma, Sarcomatoid Subtype A are variant of anaplastic large cell lymphoma. It is characterized by presence of large spindle shaped cells resembling a soft tissue sarcoma. MONDO:0020325 +MONDO:0856968 anaplastic large cell lymphoma, signet ring-like subtype NCIT:C39676 MONDO:equivalentTo Anaplastic Large Cell Lymphoma, Signet Ring-Like Subtype An anaplastic large cell lymphoma, characterized by lymphoid cells with signet ring nuclei. MONDO:0020325 +MONDO:0856969 pleomorphic variant mantle cell lymphoma NCIT:C39747 MONDO:equivalentTo Pleomorphic Variant Mantle Cell Lymphoma An aggressive mantle cell lymphoma characterized by the presence of pleomorphic neoplastic B-lymphocytes. MONDO:0018876 +MONDO:0856970 type ii endometrial adenocarcinoma NCIT:C39749 MONDO:equivalentTo Type II Endometrial Adenocarcinoma A classification of primary endometrial adenocarcinomas that refers to clear cell adenocarcinoma, serous adenocarcinoma, and serous endometrial intraepithelial carcinoma. MONDO:0005461 +MONDO:0856971 glioblastoma, idh-wildtype NCIT:C39750 MONDO:equivalentTo Glioblastoma, IDH-Wildtype A glioblastoma that arises de novo. It is more commonly seen in older patients. Mutations in IDH1 or IDH2 genes are not present. MONDO:0018177 +MONDO:0856972 secondary glioblastoma NCIT:C39751 MONDO:equivalentTo Secondary Glioblastoma A glioblastoma arising from a lower grade astrocytoma. MONDO:0018177 +MONDO:0856973 conventional ameloblastoma NCIT:C39755 MONDO:equivalentTo Conventional Ameloblastoma An intraosseous ameloblastoma that arises from the jaw, usually the mandible. It grows slowly, invades locally, and recurs frequently. It presents with swelling of the jaw. MONDO:0017795 +MONDO:0856974 unicystic ameloblastoma NCIT:C39756 MONDO:equivalentTo Unicystic Ameloblastoma An ameloblastoma that presents as a unilocular cyst. It usually arises from the mandible. MONDO:0021077|MONDO:0017795 +MONDO:0856975 renal cell carcinoma with constitutional chromosome 3 translocations NCIT:C39790 MONDO:equivalentTo Renal Cell Carcinoma with Constitutional Chromosome 3 Translocations A renal cell carcinoma with constitutional chromosome 3 translocations. MONDO:0003008 +MONDO:0856976 renal cell carcinoma associated with inv(x)(p11;q12) NCIT:C39802 MONDO:equivalentTo Renal Cell Carcinoma Associated with inv(X)(p11;q12) A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the inv(X)(p11;q12) resulting in fusion of the NONO (p54nrb) and TFE3 genes. MONDO:0006397 +MONDO:0856980 invasive bladder sarcomatoid urothelial carcinoma with heterologous elements NCIT:C39825 MONDO:equivalentTo Invasive Bladder Sarcomatoid Urothelial Carcinoma with Heterologous Elements Invasive bladder sarcomatoid urothelial carcinoma characterized by the presence of heterologous elements. MONDO:0004278 +MONDO:0856981 invasive bladder sarcomatoid urothelial carcinoma without heterologous elements NCIT:C39826 MONDO:equivalentTo Invasive Bladder Sarcomatoid Urothelial Carcinoma without Heterologous Elements Invasive bladder sarcomatoid urothelial carcinoma characterized by the absence of heterologous elements. MONDO:0004278 +MONDO:0856984 bladder adenocarcinoma, not otherwise specified NCIT:C39836 MONDO:equivalentTo Bladder Adenocarcinoma, Not Otherwise Specified An adenocarcinoma, not otherwise specified, arising from the bladder. MONDO:0002751 +MONDO:0856986 human papillomavirus-related urethral squamous cell carcinoma NCIT:C39862 MONDO:equivalentTo Human Papillomavirus-Related Urethral Squamous Cell Carcinoma A rare urethral squamous cell carcinoma that is related to human papilloma virus (HPV) infection of the urinary tract. MONDO:0002764|MONDO:0020657 +MONDO:0856987 bladder mucosa-associated lymphoid tissue lymphoma NCIT:C39878 MONDO:equivalentTo Bladder Mucosa-Associated Lymphoid Tissue Lymphoma A rare mucosa-associated lymphoid tissue lymphoma affecting the bladder. MONDO:0001381|MONDO:0007650 +MONDO:0856988 prostate acinar adenocarcinoma, atrophic pattern NCIT:C39880 MONDO:equivalentTo Prostate Acinar Adenocarcinoma, Atrophic Pattern An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm. MONDO:0002493 +MONDO:0856989 prostate acinar pseudohyperplastic adenocarcinoma NCIT:C39881 MONDO:equivalentTo Prostate Acinar Pseudohyperplastic Adenocarcinoma Acinar prostate adenocarcinoma characterized by the presence of neoplastic large glands that resemble the benign, non-neoplastic prostate glands. MONDO:0002493 +MONDO:0856991 prostatic duct urothelial carcinoma NCIT:C39901 MONDO:equivalentTo Prostatic Duct Urothelial Carcinoma An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts. MONDO:0002834 +MONDO:0856992 testicular seminoma with syncytiotrophoblastic cells NCIT:C39919 MONDO:equivalentTo Testicular Seminoma with Syncytiotrophoblastic Cells A testicular seminoma characterized by the presence of syncytiotrophoblastic giant cells. MONDO:0003669 +MONDO:0856994 testicular seminoma with high mitotic index NCIT:C39920 MONDO:equivalentTo Testicular Seminoma with High Mitotic Index A seminoma of the testis characterized by increased cellular pleomorphism, high mitotic activity, and a non-prominent stromal lymphocytic infiltrate. MONDO:0020633|MONDO:0003669 +MONDO:0856995 testicular spermatocytic tumor with sarcoma NCIT:C39922 MONDO:equivalentTo Testicular Spermatocytic Tumor with Sarcoma A malignant germ cell tumor that arises from the testis and is characterized by the presence of a spermatocytic tumor component that is contiguous with an undifferentiated or differentiated sarcomatous component. It usually presents as a slowly growing mass that enlarges very rapidly soon after the initial diagnosis. MONDO:0020513 +MONDO:0856996 monodermal testicular teratoma NCIT:C39936 MONDO:equivalentTo Monodermal Testicular Teratoma A teratoma that arises from the testis. It is composed exclusively of one of the following tissue types: endoderm, ectoderm, or mesoderm. MONDO:0018193 +MONDO:0856997 testicular sertoli cell tumor, lipid rich variant NCIT:C39943 MONDO:equivalentTo Testicular Sertoli Cell Tumor, Lipid Rich Variant A testicular Sertoli cell tumor in which the neoplastic cells have clear and vacuolated cytoplasm due to accumulation of intracytoplasmic lipids. MONDO:0020813 +MONDO:0856998 testicular large cell calcifying sertoli cell tumor NCIT:C39944 MONDO:equivalentTo Testicular Large Cell Calcifying Sertoli Cell Tumor A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma. Malignant behavior is uncommon. MONDO:0020808 +MONDO:0856999 testicular sclerosing sertoli cell tumor NCIT:C39945 MONDO:equivalentTo Testicular Sclerosing Sertoli Cell Tumor A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma. MONDO:0020813 +MONDO:0857002 tumor of the thecoma/fibroma group NCIT:C39950 MONDO:equivalentTo Tumor of the Thecoma/Fibroma Group A sex cord-stromal tumor that arises from the ovary or the testis. Representative examples include fibroma, fibrosarcoma, and thecoma. MONDO:0006055 +MONDO:0857004 moderately differentiated ovarian sertoli-leydig cell tumor NCIT:C39968 MONDO:equivalentTo Moderately Differentiated Ovarian Sertoli-Leydig Cell Tumor A Sertoli-Leydig cell tumor of the ovary characterized by the presence of spindle-shaped gonadal stromal cells and Sertoli cells, some of which are atypical. Leydig cells are also present forming clusters at the periphery of the cellular aggregates. Metastases have been reported in a minority of patients. MONDO:0036595 +MONDO:0857005 ovarian sertoli-leydig cell tumor with heterologous elements NCIT:C39970 MONDO:equivalentTo Ovarian Sertoli-Leydig Cell Tumor with Heterologous Elements A Sertoli-Leydig cell tumor that arises from the ovary. It is characterized by the presence of epithelial and/or mesenchymal components and neoplasms that arise from these components. MONDO:0036595 +MONDO:0857006 ovarian retiform sertoli-leydig cell tumor NCIT:C39971 MONDO:equivalentTo Ovarian Retiform Sertoli-Leydig Cell Tumor A Sertoli-Leydig cell tumor of the ovary in which anastomosing, slit-like spaces resembling rete testis constitute at least 90% of the tumor elements. It may present with estrogenic and less often androgenic manifestations. It usually follows a benign clinical course. MONDO:0036595 +MONDO:0857007 ovarian sertoli-leydig cell tumor with retiform elements NCIT:C39974 MONDO:equivalentTo Ovarian Sertoli-Leydig Cell Tumor with Retiform Elements A Sertoli-Leydig cell tumor characterized by the presence of spaces that resemble rete testis (retiform elements). These spaces form anastomosing patterns and comprise at least ten percent but less than ninety percent of the tumor. When the retiform elements comprise ninety percent or more of the tumor, the term retiform Sertoli-Leydig cell tumor is used. A minority of patients may have an aggressive clinical course. MONDO:0036595 +MONDO:0857008 ovarian stromal-leydig cell tumor NCIT:C39977 MONDO:equivalentTo Ovarian Stromal-Leydig Cell Tumor A rare, benign and well circumscribed stromal tumor of the ovary. It is characterized by the presence of a fibrotic stroma with clusters of Leydig cells. The Leydig cells contain crystals of Reinke. Patients may present with virilization. MONDO:0024387|MONDO:0020807 +MONDO:0857009 ovarian sex cord-stromal tumor, not otherwise specified NCIT:C39978 MONDO:equivalentTo Ovarian Sex Cord-Stromal Tumor, Not Otherwise Specified A sex cord-stromal tumor that arises from the ovary and lacks the morphologic features that belong to the categories of granulosa-stromal tumors, Sertoli-stromal tumors, or steroid cell tumors. MONDO:0021657 +MONDO:0857012 malignant ovarian teratoma NCIT:C39995 MONDO:equivalentTo Malignant Ovarian Teratoma A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements. MONDO:0003514|MONDO:0003821|MONDO:0018171 +MONDO:0857014 borderline ovarian serous tumor/atypical proliferative ovarian serous tumor with microinvasion NCIT:C40027 MONDO:equivalentTo Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor with Microinvasion A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic serous epithelial cells, atypia, and microinvasion of the ovarian stroma. MONDO:0037255 +MONDO:0857015 borderline ovarian serous adenofibroma NCIT:C40028 MONDO:equivalentTo Borderline Ovarian Serous Adenofibroma A low malignant potential adenofibroma arising from the ovary. It is characterized by an atypical epithelial hyperplasia. The epithelial cells are of serous type. There is no evidence of stromal destructive invasion. MONDO:0024886|MONDO:0003462|MONDO:0020662 +MONDO:0857016 borderline ovarian mucinous tumor NCIT:C40036 MONDO:equivalentTo Borderline Ovarian Mucinous Tumor A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type. MONDO:0003756|MONDO:0016093 +MONDO:0857017 ovarian mucinous cystic tumor with mural nodules NCIT:C40042 MONDO:equivalentTo Ovarian Mucinous Cystic Tumor with Mural Nodules A mucinous cystic tumor of the ovary characterized by the presence of one or more well circumscribed solid nodules in the wall of the cysts (mural nodules) that protrude into the lumen. The mural nodules may be benign (sarcoma-like) or malignant. The malignant mural nodules histologically are anaplastic carcinomas, carcinosarcomas, or sarcomas. The clinical course depends on the histology of the mural nodules. The prognosis of mucinous cystic tumors with benign mural nodules is the same as the corresponding types of mucinous cystic tumors without the mural nodules. Mucinous cystic tumors with malignant mural nodules may follow a malignant clinical course. MONDO:0003756 +MONDO:0857018 ovarian mucinous cystic tumor associated with pseudomyxoma peritonei NCIT:C40043 MONDO:equivalentTo Ovarian Mucinous Cystic Tumor Associated with Pseudomyxoma Peritonei The presence of abundant mucoid or gelatinous, cellular or acellular material in the pelvis and abdominal cavity (pseudomyxoma peritonei) that is associated with the presence of an ovarian mucinous cystic tumor. In the vast majority of cases, the presence of pseudomyxoma peritonei is the result of metastasis from a primary appendiceal or gastrointestinal tumor site, and the ovarian mucinous tumor is metastatic rather than primary. MONDO:0003756 +MONDO:0857022 borderline ovarian clear cell tumor NCIT:C40080 MONDO:equivalentTo Borderline Ovarian Clear Cell Tumor An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion. MONDO:0021144|MONDO:0016093 +MONDO:0857025 fallopian tube serous neoplasm NCIT:C40102 MONDO:equivalentTo Fallopian Tube Serous Neoplasm A benign, borderline, or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic serous epithelial cells. MONDO:0037256|MONDO:0021092 +MONDO:0857028 fallopian tube endometrioid polyp NCIT:C40115 MONDO:equivalentTo Fallopian Tube Endometrioid Polyp An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium. It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy. MONDO:0021075|MONDO:0021576 +MONDO:0857029 fallopian tube metaplastic papillary tumor NCIT:C40116 MONDO:equivalentTo Fallopian Tube Metaplastic Papillary Tumor A rare metaplastic lesion that arises from the fallopian tube. It is characterized by the presence of an intraluminal papillary proliferation composed of atypical epithelial cells with abundant eosinophilic cytoplasm. In the vast majority of cases, it is an incidental finding during microscopic examination of a fallopian tube in the postpartum period. MONDO:0021096|MONDO:0000645|MONDO:0036976 +MONDO:0857030 fallopian tube soft tissue neoplasm NCIT:C40126 MONDO:equivalentTo Fallopian Tube Soft Tissue Neoplasm A benign or malignant mesenchymal neoplasm of the fallopian tube. Representative examples include leiomyoma and leiomyosarcoma. MONDO:0006424|MONDO:0021092 +MONDO:0857031 type i endometrial adenocarcinoma NCIT:C40145 MONDO:equivalentTo Type I Endometrial Adenocarcinoma A classification of primary endometrial adenocarcinomas that refers to endometrioid adenocarcinoma and mucinous adenocarcinoma. MONDO:0005461 +MONDO:0857033 figo grade 1 endometrial mucinous adenocarcinoma NCIT:C40149 MONDO:equivalentTo FIGO Grade 1 Endometrial Mucinous Adenocarcinoma A primary mucinous adenocarcinoma of the endometrium that contains equal to or less than 5% non-squamous solid areas. MONDO:0002747 +MONDO:0857034 figo grade 2 endometrial mucinous adenocarcinoma NCIT:C40150 MONDO:equivalentTo FIGO Grade 2 Endometrial Mucinous Adenocarcinoma A primary mucinous adenocarcinoma of the endometrium that contains 6-50% non-squamous solid areas. MONDO:0002747 +MONDO:0857035 figo grade 3 endometrial mucinous adenocarcinoma NCIT:C40151 MONDO:equivalentTo FIGO Grade 3 Endometrial Mucinous Adenocarcinoma A primary mucinous adenocarcinoma of the endometrium that contains more than 50% non-squamous solid areas. MONDO:0002747 +MONDO:0857036 uterine corpus leiomyoma, mitotically active variant NCIT:C40162 MONDO:equivalentTo Uterine Corpus Leiomyoma, Mitotically Active Variant A morphologic variant of uterine corpus leiomyoma characterized by an increased number of mitoses (up to 19 mitoses per 10 high-powered fields). MONDO:0007886 +MONDO:0857037 uterine corpus soft tissue neoplasm NCIT:C40179 MONDO:equivalentTo Uterine Corpus Soft Tissue Neoplasm A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma. MONDO:0021254|MONDO:0006424 +MONDO:0857039 cervical squamous neoplasm NCIT:C40195 MONDO:equivalentTo Cervical Squamous Neoplasm A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the cervix. Representative examples include condyloma acuminatum, cervical intraepithelial neoplasia, and squamous cell carcinoma. MONDO:0002532|MONDO:0021230 +MONDO:0857040 cervical glandular neoplasm NCIT:C40210 MONDO:equivalentTo Cervical Glandular Neoplasm A benign, malignant, or precancerous neoplasm that arises from the glandular epithelium of the cervix. Representative examples include endocervical polyp, cervical adenocarcinoma, and cervical glandular intraepithelial neoplasia. MONDO:0024276|MONDO:0021230 +MONDO:0857041 cervical soft tissue neoplasm NCIT:C40216 MONDO:equivalentTo Cervical Soft Tissue Neoplasm A benign or malignant mesenchymal neoplasm of the cervix. Representative examples include rhabdomyoma, alveolar soft part sarcoma, and AIDS-related Kaposi sarcoma. MONDO:0006424|MONDO:0021230 +MONDO:0857043 cervical mixed epithelial and mesenchymal neoplasm NCIT:C40226 MONDO:equivalentTo Cervical Mixed Epithelial and Mesenchymal Neoplasm A benign or malignant neoplasm that arises from the cervix and is characterized by the presence of epithelial and mesenchymal elements. This category includes adenofibroma, adenomyoma, adenosarcoma, and carcinosarcoma. MONDO:0021043|MONDO:0021230 +MONDO:0857045 vaginal keratinizing squamous cell carcinoma NCIT:C40243 MONDO:equivalentTo Vaginal Keratinizing Squamous Cell Carcinoma A squamous cell carcinoma that arises from the vagina and is characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. MONDO:0005056|MONDO:0006490 +MONDO:0857046 vaginal basaloid squamous cell carcinoma NCIT:C40245 MONDO:equivalentTo Vaginal Basaloid Squamous Cell Carcinoma A squamous cell carcinoma that arises from the vagina and is characterized by the presence of nests of malignant basaloid squamous cells with scant amounts of cytoplasm. MONDO:0003486|MONDO:0006490 +MONDO:0857047 vaginal endometrioid adenocarcinoma NCIT:C40251 MONDO:equivalentTo Vaginal Endometrioid Adenocarcinoma A rare adenocarcinoma that arises from the vagina with histologic features resembling the endometrioid adenocarcinoma of the endometrium. MONDO:0020653|MONDO:0005026 +MONDO:0857048 vaginal mucinous adenocarcinoma NCIT:C40252 MONDO:equivalentTo Vaginal Mucinous Adenocarcinoma A rare adenocarcinoma that arises from the vagina with histologic features resembling cervical mucinous adenocarcinoma. MONDO:0020653|MONDO:0004957 +MONDO:0857049 vaginal mesonephric adenocarcinoma NCIT:C40253 MONDO:equivalentTo Vaginal Mesonephric Adenocarcinoma Vaginal adenocarcinoma that derives from Wolffian duct remnants and shows mesonephric differentiation. MONDO:0020653|MONDO:0005613 +MONDO:0857050 vaginal adenosquamous carcinoma NCIT:C40260 MONDO:equivalentTo Vaginal Adenosquamous Carcinoma A carcinoma that arises from the vagina and is characterized by the presence of malignant glandular and malignant squamous epithelial components. MONDO:0006074|MONDO:0015867 +MONDO:0857051 vaginal adenoid basal carcinoma NCIT:C40262 MONDO:equivalentTo Vaginal Adenoid Basal Carcinoma A carcinoma that arises from the vagina and is characterized by the presence of nests of basaloid cells with focal glandular formations. MONDO:0015867 +MONDO:0857052 vaginal undifferentiated carcinoma NCIT:C40264 MONDO:equivalentTo Vaginal Undifferentiated Carcinoma A carcinoma that arises from the vagina and is characterized by the lack of specific cellular differentiation. MONDO:0015867|MONDO:0005617 +MONDO:0857053 vaginal soft tissue neoplasm NCIT:C40265 MONDO:equivalentTo Vaginal Soft Tissue Neoplasm A benign or malignant mesenchymal neoplasm that arises from the vagina. Representative examples include leiomyoma, rhabdomyoma, leiomyosarcoma, endometrioid stromal sarcoma, and botryoid-type embryonal rhabdomyosarcoma. MONDO:0021050|MONDO:0006424 +MONDO:0857056 vaginal mixed epithelial and mesenchymal neoplasm NCIT:C40274 MONDO:equivalentTo Vaginal Mixed Epithelial and Mesenchymal Neoplasm A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of epithelial and mesenchymal elements. This category includes benign mixed tumor, adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. MONDO:0021043|MONDO:0021050 +MONDO:0857057 malignant vaginal mixed tumor resembling synovial sarcoma NCIT:C40279 MONDO:equivalentTo Malignant Vaginal Mixed Tumor Resembling Synovial Sarcoma A very rare malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and resembles synovial sarcoma. It is characterized by a biphasic pattern and is composed of gland-like structures that are lined by epithelial cells and a cellular mesenchymal component. MONDO:0037746 +MONDO:0857058 vulvar squamous cell carcinoma with tumor giant cells NCIT:C40289 MONDO:equivalentTo Vulvar Squamous Cell Carcinoma with Tumor Giant Cells An aggressive squamous cell carcinoma that arises from the vulva and is characterized by the prominence of malignant giant cells. MONDO:0024609 +MONDO:0857059 vulvar neoplasm of skin appendage origin NCIT:C40303 MONDO:equivalentTo Vulvar Neoplasm of Skin Appendage Origin A benign or malignant vulvar neoplasm with differentiating characteristics towards sweat or sebaceous glands or hair follicles. Representative examples include trichoepithelioma, syringoma, and eccrine adenocarcinoma. MONDO:0002297|MONDO:0021049 +MONDO:0857061 vulvar soft tissue neoplasm NCIT:C40316 MONDO:equivalentTo Vulvar Soft Tissue Neoplasm A benign or malignant mesenchymal neoplasm of the vulva. Representative examples include leiomyoma, cellular angiofibroma, angiomyxoma, leiomyosarcoma, liposarcoma, and childhood botryoid-type embryonal rhabdomyosarcoma. MONDO:0021049|MONDO:0006424 +MONDO:0857062 superficial angiomyxoma NCIT:C40323 MONDO:equivalentTo Superficial Angiomyxoma An angiomyxoma arising from the dermis or subcutaneous tissues. It may recur following resection. MONDO:0006086 +MONDO:0857067 vulvar melanocytic neoplasm NCIT:C40335 MONDO:equivalentTo Vulvar Melanocytic Neoplasm A neoplasm that originates from melanocytes and arises from the vulva. This category includes congenital and acquired melanocytic nevus, blue nevus, dysplastic melanocytic nevus, atypical melanocytic nevus of genital type, and melanoma. MONDO:0021143|MONDO:0021049 +MONDO:0857071 breast carcinoma with osteoclast-like stromal giant cells NCIT:C40349 MONDO:equivalentTo Breast Carcinoma with Osteoclast-Like Stromal Giant Cells An invasive breast adenocarcinoma characterised by the presence of non-neoplastic stromal osteoclastic giant cells. The carcinomatous component is usually an invasive ductal carcinoma, although all other breast adenocarcinoma subtypes have also been described. The prognosis depends on the characteristics of the adenocarcinomatous component, and is not related to the presence of the giant cells. MONDO:0004953 +MONDO:0857072 breast carcinoma with choriocarcinomatous features NCIT:C40350 MONDO:equivalentTo Breast Carcinoma with Choriocarcinomatous Features An invasive ductal breast carcinoma, not otherwise specified, characterized by increased levels of human beta-chorionic gonadotropin in the serum. Morphologic evidence of choriocarcinomatous differentiation is rare. MONDO:0004953 +MONDO:0857073 breast carcinoma with melanotic features NCIT:C40351 MONDO:equivalentTo Breast Carcinoma with Melanotic Features A very rare primary malignant tumor of the breast, characterized by an invasive breast carcinoma that co-exists with a melanoma component. The vast majority of melanotic tumors that affect the breast are metastatic melanomas that originate in extra-mammary sites. MONDO:0004953 +MONDO:0857075 low grade breast adenosquamous carcinoma NCIT:C40362 MONDO:equivalentTo Low Grade Breast Adenosquamous Carcinoma A low grade metaplastic carcinoma of the breast with morphologic features similar to the adenosquamous carcinoma of the skin. In the majority of cases the prognosis is excellent. MONDO:0003548 +MONDO:0857076 acute myeloid leukemia arising from previous myelodysplastic syndrome NCIT:C4037 MONDO:equivalentTo Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome An acute myeloid leukemia developing in patients with a prior history of myelodysplastic syndrome. MONDO:0019457 +MONDO:0857078 postradiation breast angiosarcoma NCIT:C40378 MONDO:equivalentTo Postradiation Breast Angiosarcoma A malignant vascular neoplasm arising from the skin of the breast secondary to radiation treatment for breast cancer. MONDO:0003024 +MONDO:0857080 salivary gland myoepithelial tumor NCIT:C40393 MONDO:equivalentTo Salivary Gland Myoepithelial Tumor A benign or malignant tumor that arises from the salivary glands. It is characterized by the presence of neoplastic cells with myoepithelial differentiation. This category includes benign myoepithelioma and myoepithelial carcinoma. MONDO:0002380|MONDO:0021357 +MONDO:0857083 breast soft tissue neoplasm NCIT:C40406 MONDO:equivalentTo Breast Soft Tissue Neoplasm A benign, intermediate, or malignant mesenchymal neoplasm that arises from the breast. MONDO:0006424|MONDO:0021100 +MONDO:0857084 breast pleomorphic adenoma NCIT:C40408 MONDO:equivalentTo Breast Pleomorphic Adenoma A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial and myoepithelial cells surrounded by chondroid stroma. MONDO:0008401|MONDO:0002058 +MONDO:0857089 ovarian sex cord-stromal tumor associated with peutz-jeghers syndrome NCIT:C40436 MONDO:equivalentTo Ovarian Sex Cord-Stromal Tumor Associated with Peutz-Jeghers Syndrome A sex cord-stromal tumor that arises from the ovary in a patient diagnosed with Peutz-Jeghers syndrome. MONDO:0021657 +MONDO:0857091 esophageal polyp NCIT:C4057 MONDO:equivalentTo Esophageal Polyp A benign intraluminal polypoid neoplasm of the esophagus. It includes the squamous papilloma and the giant fibrovascular polyp. MONDO:0021459|MONDO:0024292 +MONDO:0857095 polycythemia vera, polycythemic phase NCIT:C41232 MONDO:equivalentTo Polycythemia Vera, Polycythemic Phase Polycythemia vera characterized by the proliferation of the erythroid, granulocytic, and megakaryocytic lineages. The peripheral blood shows excess of red blood cells, neutrophilia, and thrombocytosis. The bone marrow is hypercellular for the patient's age. MONDO:0009891 +MONDO:0857096 polycythemia vera, post-polycythemic myelofibrosis phase NCIT:C41233 MONDO:equivalentTo Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase Progression of polycythemia vera characterized by decreased erythropoiesis and granulopoiesis, reticulin and collagen fibrosis of the bone marrow, leucoerythroblastic reaction in the peripheral blood, poikilocytosis, tear-drop shaped red blood cells, and splenomegaly. MONDO:0009891 +MONDO:0857097 overt primary myelofibrosis NCIT:C41238 MONDO:equivalentTo Overt Primary Myelofibrosis Primary myelofibrosis characterized by reticulin or collagen fibrosis in the bone marrow. The bone marrow is usually normocellular or hypocellular. Myeloblasts account for less than 10% of the bone marrow cells. Atypical megakaryocytes are present. MONDO:0009692 +MONDO:0857098 metastatic adenocarcinoma NCIT:C4124 MONDO:equivalentTo Metastatic Adenocarcinoma An adenocarcinoma that has spread from its original site of growth to another anatomic site. MONDO:0004970|MONDO:0024879 +MONDO:0857100 solid carcinoma NCIT:C4137 MONDO:equivalentTo Solid Carcinoma A carcinoma morphologically characterized by the presence of solid sheets of malignant epithelial cells in tissues. MONDO:0004993 +MONDO:0857101 basophilic adenocarcinoma NCIT:C4150 MONDO:equivalentTo Basophilic Adenocarcinoma A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. MONDO:0004970 +MONDO:0857102 juxtaglomerular cell tumor NCIT:C4162 MONDO:equivalentTo Juxtaglomerular Cell Tumor A benign, well circumscribed neoplasm arising from the cortex of the kidney. It secrets renin and the patients usually present with severe hypertension and marked hypokalemia. Morphologically, it is characterized by the presence of sheets of polygonal or spindle-shaped neoplastic cells forming a hemangiopericytic pattern. MONDO:0002513 +MONDO:0857103 adrenal cortical compact cell adenoma NCIT:C4163 MONDO:equivalentTo Adrenal Cortical Compact Cell Adenoma An adenoma of the adrenal cortex composed of neoplastic compact cells with eosinophilic cytoplasm. MONDO:0003924 +MONDO:0857104 pigmented adrenal cortical adenoma NCIT:C4164 MONDO:equivalentTo Pigmented Adrenal Cortical Adenoma A usually functioning adenoma of the adrenal cortex. Grossly, it has a dark brown appearance and is characterized by the presence of neoplastic cells containing abundant intracytoplasmic lipofuscin. It may be associated with Cushing syndrome. MONDO:0003924 +MONDO:0857105 adrenal cortical clear cell adenoma NCIT:C4165 MONDO:equivalentTo Adrenal Cortical Clear Cell Adenoma An adenoma of the adrenal cortex composed of neoplastic clear cells containing intracytoplasmic lipid droplets. MONDO:0003924|MONDO:0003426 +MONDO:0857106 adrenal cortical glomerulosa cell adenoma NCIT:C4166 MONDO:equivalentTo Adrenal Cortical Glomerulosa Cell Adenoma An adenoma of the adrenal cortex composed of neoplastic cells with cytologic features of glomerulosa cells. MONDO:0003924 +MONDO:0857107 adrenal cortical mixed cell adenoma NCIT:C4167 MONDO:equivalentTo Adrenal Cortical Mixed Cell Adenoma An adenoma of the adrenal cortex composed of a mixed neoplastic cellular population, including varying numbers of neoplastic clear and compact cells. MONDO:0003421|MONDO:0003924 +MONDO:0857109 papillary serous cystadenoma NCIT:C4180 MONDO:equivalentTo Papillary Serous Cystadenoma A serous benign or low malignant potential cystic epithelial neoplasm characterized by the presence of glandular epithelial cells forming papillary structures. MONDO:0005177|MONDO:0021091 +MONDO:0857110 serous surface papillary carcinoma NCIT:C4182 MONDO:equivalentTo Serous Surface Papillary Carcinoma An invasive serous adenocarcinoma arising from the ovary and rarely the peritoneum. Morphologically, it may be a well, moderately, or poorly differentiated neoplasm. It is characterized by a papillary growth pattern often associated with the presence of psammoma bodies. MONDO:0005278|MONDO:0002512 +MONDO:0857111 papillary mucinous cystadenoma NCIT:C4184 MONDO:equivalentTo Papillary Mucinous Cystadenoma A usually benign and less often low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It is characterized by the presence of papillary structures. MONDO:0021091|MONDO:0006859 +MONDO:0857112 gliomatosis cerebri type i NCIT:C41842 MONDO:equivalentTo Gliomatosis Cerebri Type I A classic form of gliomatosis cerebri. It is characterized by diffuse growth of neoplastic glial tissue without any focal mass. MONDO:0016683 +MONDO:0857113 gliomatosis cerebri type ii NCIT:C41843 MONDO:equivalentTo Gliomatosis Cerebri Type II A classic form of gliomatosis cerebri. It is characterized by diffuse growth of neoplastic glial tissue without any focal mass. MONDO:0016683 +MONDO:0857115 thyroid gland medullary carcinoma with amyloid stroma NCIT:C4193 MONDO:equivalentTo Thyroid Gland Medullary Carcinoma with Amyloid Stroma A medullary thyroid gland carcinoma characterized by the presence of amyloid stroma. The majority of medullary carcinomas of the thyroid gland are associated with amyloid deposits. The latter are highlighted with Congo red staining method. MONDO:0015277 +MONDO:0857117 acinar cell neoplasm NCIT:C4197 MONDO:equivalentTo Acinar Cell Neoplasm A benign or malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. It includes the acinar cell adenoma and acinar cell carcinoma. MONDO:0024276 +MONDO:0857118 ovarian luteinized thecoma NCIT:C4203 MONDO:equivalentTo Ovarian Luteinized Thecoma A variant of ovarian thecoma characterized by the presence of lutein cells. It is associated with a lower frequency of estrogenic manifestations compared to typical thecomas. In a minority of cases androgenic manifestations are present. MONDO:0037253 +MONDO:0857119 undifferentiated neuroblastoma NCIT:C42046 MONDO:equivalentTo Undifferentiated Neuroblastoma A neuroblastoma characterized by the absence of differentiating neuroblasts. MONDO:0005072 +MONDO:0857120 poorly differentiated neuroblastoma NCIT:C42047 MONDO:equivalentTo Poorly Differentiated Neuroblastoma A neuroblastoma in which the differentiating neuroblasts constitute less than five-percent of the tumor cells. MONDO:0005072 +MONDO:0857121 malignant granulosa cell tumor NCIT:C4205 MONDO:equivalentTo Malignant Granulosa Cell Tumor A granulosa cell tumor which has an aggressive clinical course and metastasizes to other anatomic sites. MONDO:0006036 +MONDO:0857122 maturing ganglioneuroma NCIT:C42064 MONDO:equivalentTo Maturing Ganglioneuroma A ganglioneuroma characterized by the presence of differentiating neuroblasts, maturing and mature ganglion cells. MONDO:0005033 +MONDO:0857123 mature ganglioneuroma NCIT:C42065 MONDO:equivalentTo Mature Ganglioneuroma A ganglioneuroma characterized by the presence of mature ganglion cells and a mature Schwannian stroma. MONDO:0005033 +MONDO:0857125 ovarian sex cord tumor with annular tubules NCIT:C4208 MONDO:equivalentTo Ovarian Sex Cord Tumor with Annular Tubules An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course. MONDO:0021657 +MONDO:0857126 well differentiated ovarian sertoli-leydig cell tumor NCIT:C4209 MONDO:equivalentTo Well Differentiated Ovarian Sertoli-Leydig Cell Tumor A Sertoli-Leydig tumor of the ovary characterized by the presence of Sertoli cells in tubules without evidence of significant nuclear atypia or mitotic activity. Primitive gonadal stromal cells are not present. It usually follows a benign clinical course. MONDO:0036595 +MONDO:0857127 poorly differentiated ovarian sertoli-leydig cell tumor NCIT:C4210 MONDO:equivalentTo Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor A Sertoli-Leydig tumor of the ovary characterized by the presence of a sarcomatoid stroma which contains primitive gonadal stromal cells. It may behave in a malignant fashion and metastasize to other anatomic sites. MONDO:0018172|MONDO:0036595 +MONDO:0857128 ovarian steroid cell tumor NCIT:C4215 MONDO:equivalentTo Ovarian Steroid Cell Tumor An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course. MONDO:0021657 +MONDO:0857129 balloon cell nevus NCIT:C4226 MONDO:equivalentTo Balloon Cell Nevus An uncommon variant of melanocytic nevus. It presents as a small pigmented skin lesion. It is characterized by the presence of large melanocytes with clear, foamy or finely vacuolated cytoplasm. It may recur if it is not completely excised. MONDO:0044794 +MONDO:0857130 regressing melanoma NCIT:C4228 MONDO:equivalentTo Regressing Melanoma A skin lesion characterized by the disappearance of the melanoma cells from the primary melanoma site. The disappearance of the malignant cells is associated with fibroplasia of the papillary dermis. According to some authors, complete regression of the primary melanoma may occur in 4-8% of patients. MONDO:0005105 +MONDO:0857131 neuronevus NCIT:C4229 MONDO:equivalentTo Neuronevus An intradermal nevus characterized by the presence of nests of atrophic nevus cells which are hyalinized and resemble nerve bundles. MONDO:0006813 +MONDO:0857132 junctional nevus NCIT:C4231 MONDO:equivalentTo Junctional Nevus A nevus characterized by the presence of an intraepidermal proliferation of nevus cells. The nevus cells form multiple nests in the dermal-epidermal junction. It presents as a small, slightly raised, pigmented skin lesion. MONDO:0005073 +MONDO:0857133 melanoma in junctional nevus NCIT:C4232 MONDO:equivalentTo Melanoma in Junctional Nevus A melanoma arising from a melanocytic nevus which involves the dermal-epidermal junction of the skin. MONDO:0005012 +MONDO:0857134 type a spindle cell melanoma NCIT:C4238 MONDO:equivalentTo Type A Spindle Cell Melanoma A melanoma characterized by the presence of malignant spindle-shaped melanocytes with slender nuclei and no visible nucleoli. Representative example is the type A spindle cell uveal melanoma. MONDO:0006427 +MONDO:0857135 type b spindle cell melanoma NCIT:C4239 MONDO:equivalentTo Type B Spindle Cell Melanoma A melanoma characterized by the presence of malignant spindle-shaped melanocytes with larger nuclei and distinct nucleoli. Representative example is the type B spindle cell uveal melanoma. MONDO:0006427 +MONDO:0857136 melanoma arising in blue nevus NCIT:C4240 MONDO:equivalentTo Melanoma Arising in Blue Nevus A rare melanoma which develops in a pre-existing blue nevus. It occurs more frequently on the scalp, face, orbit, back, buttocks, extremities, hands, and feet. MONDO:0005012 +MONDO:0857137 cellular blue nevus NCIT:C4241 MONDO:equivalentTo Cellular Blue Nevus A blue nevus characterized by a multinodular cellular infiltrate with a dumb-bell architecture occupying the reticular dermis. The cellular infiltrate often extends into the subcutaneous tissue. The cellular infiltrate is composed of spindle-shaped melanocytes with pale cytoplasm alternating with bundles of pigmented spindle-shaped melanocytes. In occasional cases an increased mitotic activity, focal necrosis, and nuclear pleomorphism may be seen. Such cases with atypical features may have an uncertain malignant potential. MONDO:0006680 +MONDO:0857138 fibrolipoma NCIT:C4249 MONDO:equivalentTo Fibrolipoma A benign well-circumscribed tumor composed of mature adipocytes, characterized by areas of abundant fibrous tissue. MONDO:0005106 +MONDO:0857139 fibromyxolipoma NCIT:C4251 MONDO:equivalentTo Fibromyxolipoma A benign well-circumscribed tumor composed of mature adipocytes, characterized by areas of abundant fibrous tissue and extensive myxoid change. MONDO:0005106 +MONDO:0857140 lipoblastomatosis NCIT:C4255 MONDO:equivalentTo Lipoblastomatosis A neoplastic process characterized by the presence of multiple lipoblastomas. MONDO:0044983 +MONDO:0857141 sporadic retinoblastoma NCIT:C42596 MONDO:equivalentTo Sporadic Retinoblastoma A retinoblastoma that occurs in a patient without a family history of the disease. MONDO:0008380 +MONDO:0857144 acute myelomonocytic leukemia without abnormal eosinophils NCIT:C42779 MONDO:equivalentTo Acute Myelomonocytic Leukemia without Abnormal Eosinophils Acute myelomonocytic leukemia without an abnormal eosinophilic component in the bone marrow. MONDO:0018871 +MONDO:0857145 pericardial solitary fibrous tumor NCIT:C4281 MONDO:equivalentTo Pericardial Solitary Fibrous Tumor A localized neoplasm of probable fibroblastic derivation, that arises from the pericardium. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. MONDO:0021381|MONDO:0016238 +MONDO:0857146 benign hemangiopericytoma NCIT:C4300 MONDO:equivalentTo Benign Hemangiopericytoma A hemangiopericytoma without malignant morphologic or clinical characteristics. MONDO:0005094 +MONDO:0857147 benign odontogenic neoplasm NCIT:C4306 MONDO:equivalentTo Benign Odontogenic Neoplasm A benign, slow growing neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Representative examples include adenomatoid odontogenic tumor, calcifying cystic odontogenic tumor, and squamous odontogenic tumor. MONDO:0021445|MONDO:0021192 +MONDO:0857152 pure cutaneous mastocytosis NCIT:C43277 MONDO:equivalentTo Pure Cutaneous Mastocytosis Mastocytosis that manifests with pure cutaneous involvement. MONDO:0019023 +MONDO:0857155 germinative follicular epithelium neoplasm NCIT:C43311 MONDO:equivalentTo Germinative Follicular Epithelium Neoplasm A neoplasm involving the germinative follicular epithelium. MONDO:0003413|MONDO:0021634 +MONDO:0857156 adamantinoid trichoblastoma NCIT:C43312 MONDO:equivalentTo Adamantinoid Trichoblastoma A trichoblastoma characterized by the presence of neoplastic epithelial cell forming nodules. There are palisaded basaloid cells present at the periphery and pale larger cells with vesicular nuclei, prominent nucleoli, and abundant cytoplasm present at the center of the nodules. The epithelial cells are admixed with numerous small lymphocytes and occasional large multinucleated cells that resemble Reed-Sternberg cells. MONDO:0020593 +MONDO:0857160 outer hair sheath and infundibulum neoplasm NCIT:C43324 MONDO:equivalentTo Outer Hair Sheath and Infundibulum Neoplasm A neoplasm involving the outer hair sheath and infundibulum. MONDO:0003413 +MONDO:0857163 superficial epithelioma with sebaceous differentiation NCIT:C43334 MONDO:equivalentTo Superficial Epithelioma with Sebaceous Differentiation A benign epithelial neoplasm occurring in the head, neck or back region. It is characterized by proliferation of basaloid cells in the upper dermis with broad attachments to the epidermis. MONDO:0021490 +MONDO:0857164 sebaceoma NCIT:C43336 MONDO:equivalentTo Sebaceoma A benign neoplasm characterized by sebaceous cell differentiation. It arises from the dermis and typically affects the face and neck. MONDO:0021490 +MONDO:0857165 extraocular cutaneous sebaceous carcinoma NCIT:C43341 MONDO:equivalentTo Extraocular Cutaneous Sebaceous Carcinoma A rare variant of sebaceous carcinoma that does not affect the ocular region. MONDO:0006962 +MONDO:0857166 apocrine hidrocystoma NCIT:C43342 MONDO:equivalentTo Apocrine Hidrocystoma A slow-growing, usually solitary, dome-shaped benign sweat gland adenoma, most frequently located on the eyelid. It is characterized by a cystic proliferation of apocrine glands. Surgical excision is curative. MONDO:0002804|MONDO:0006787 +MONDO:0857167 cylindrocarcinoma NCIT:C43344 MONDO:equivalentTo Cylindrocarcinoma A carcinoma that arises in a cylindroma. MONDO:0005524|MONDO:0024878 +MONDO:0857168 ductal eccrine carcinoma with spindle cell elements NCIT:C43346 MONDO:equivalentTo Ductal Eccrine Carcinoma with Spindle Cell Elements A variant of ductal eccrine carcinoma with spindled cell appearance. MONDO:0024245 +MONDO:0857169 squamoid eccrine ductal carcinoma NCIT:C43347 MONDO:equivalentTo Squamoid Eccrine Ductal Carcinoma A variant of ductal eccrine carcinoma with squamoid metaplasia. MONDO:0024245 +MONDO:0857170 ductal eccrine carcinoma with abundant fibromyxoid stroma NCIT:C43349 MONDO:equivalentTo Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma. MONDO:0024245 +MONDO:0857171 sporadic cylindroma NCIT:C43351 MONDO:equivalentTo Sporadic Cylindroma A cylindroma occurring as a solitary sporadic lesion. MONDO:0021812 +MONDO:0857172 classic poroma NCIT:C43353 MONDO:equivalentTo Classic Poroma A poroma characterized by the presence of cords and aggregates of neoplastic cells in the superficial dermis in connection with the epidermis. MONDO:0006738 +MONDO:0857173 porocarcinoma in situ NCIT:C43354 MONDO:equivalentTo Porocarcinoma In Situ A rare intraepidermal neoplasia that arises from the acrosyringial portion of the eccrine duct. MONDO:0006189 +MONDO:0857174 aleukemic lymphoid leukemia NCIT:C4343 MONDO:equivalentTo Aleukemic Lymphoid Leukemia MONDO:0003730|MONDO:0005402 +MONDO:0857175 sporadic gastric adenocarcinoma NCIT:C43527 MONDO:equivalentTo Sporadic Gastric Adenocarcinoma A primary adenocarcinoma of the stomach in a patient with no family history of gastric cancer or inherited high risk mutations. MONDO:0005036 +MONDO:0857177 small intestinal adenosquamous carcinoma NCIT:C43535 MONDO:equivalentTo Small Intestinal Adenosquamous Carcinoma A carcinoma that arises from the small intestine. It is composed of malignant glandular cells and malignant squamous cells. MONDO:0005522|MONDO:0006074 +MONDO:0857178 small intestinal mucinous adenocarcinoma NCIT:C43536 MONDO:equivalentTo Small Intestinal Mucinous Adenocarcinoma An invasive adenocarcinoma that arises from the small intestine. It is composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. MONDO:0003198|MONDO:0004957 +MONDO:0857179 small intestinal medullary carcinoma NCIT:C43537 MONDO:equivalentTo Small Intestinal Medullary Carcinoma A carcinoma that arises from the small intestine. It is characterized by the presence of malignant epithelial cells with vesicular nucleus, distinct nucleolus, and abundant pink cytoplasm. MONDO:0005522 +MONDO:0857180 small intestinal undifferentiated carcinoma NCIT:C43538 MONDO:equivalentTo Small Intestinal Undifferentiated Carcinoma A carcinoma that arises from the small intestine. It is composed of malignant epithelial cells which do not display evidence of glandular, squamous, or transitional cell differentiation. MONDO:0005522|MONDO:0005617 +MONDO:0857181 pituitary neuroendocrine tumor/microadenoma NCIT:C43541 MONDO:equivalentTo Pituitary Neuroendocrine Tumor/Microadenoma A pituitary neuroendocrine tumor with a diameter equal or less than 10 mm. MONDO:0006373 +MONDO:0857182 pituitary neuroendocrine tumor/macroadenoma NCIT:C43542 MONDO:equivalentTo Pituitary Neuroendocrine Tumor/Macroadenoma A pituitary neuroendocrine tumor with a diameter greater than 10 mm. Clinical manifestations include headache, visual field disturbances, pituitary insufficiency, and mild hyperprolactinemia. MONDO:0006373 +MONDO:0857183 small intestinal signet ring cell carcinoma NCIT:C43543 MONDO:equivalentTo Small Intestinal Signet Ring Cell Carcinoma An invasive adenocarcinoma that arises from the small intestine. It is characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. MONDO:0003198|MONDO:0005092 +MONDO:0857184 appendix tubular adenoma NCIT:C43546 MONDO:equivalentTo Appendix Tubular Adenoma An adenoma arising from the appendix. It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia. MONDO:0006088|MONDO:0024660 +MONDO:0857185 appendix tubulovillous adenoma NCIT:C43547 MONDO:equivalentTo Appendix Tubulovillous Adenoma An adenoma arising from the appendix. It is characterized by the presence of tubular and villous epithelial structures and it is associated with dysplasia. MONDO:0006088|MONDO:0024661 +MONDO:0857187 eyelid squamous papilloma NCIT:C4355 MONDO:equivalentTo Eyelid Squamous Papilloma A papilloma that arises from the eyelid. It is composed of squamous cells and is characterized by the presence of an acanthotic epithelium with hyperkeratosis and papillary projections with an inner fibrovascular core. It is the most common benign epithelial tumor of eyelid. It usually affects middle-aged or older adults. MONDO:0001825|MONDO:0021275 +MONDO:0857188 small intestinal villous adenoma NCIT:C43551 MONDO:equivalentTo Small Intestinal Villous Adenoma A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. MONDO:0000502|MONDO:0021303 +MONDO:0857189 appendix signet ring cell carcinoma NCIT:C43554 MONDO:equivalentTo Appendix Signet Ring Cell Carcinoma An adenocarcinoma arising from the appendix, characterized by the presence of signet-ring, mucin-producing malignant cells. The signet-ring cells constitute more than fifty-percent of the malignant cells. MONDO:0006087|MONDO:0005092 +MONDO:0857190 appendix undifferentiated carcinoma NCIT:C43556 MONDO:equivalentTo Appendix Undifferentiated Carcinoma A high grade carcinoma arising from the appendix, characterized by the absence of glandular or squamous differentiation. MONDO:0003196|MONDO:0005617 +MONDO:0857191 appendix mixed adenoneuroendocrine carcinoma NCIT:C43564 MONDO:equivalentTo Appendix Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the appendix. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0006182|MONDO:0003196 +MONDO:0857192 appendix tubular carcinoid NCIT:C43565 MONDO:equivalentTo Appendix Tubular Carcinoid A neuroendocrine tumor that arises from the appendix. It does not show the morphologic characteristics of typical carcinoid tumors (neoplastic cells forming solid nests). In contrast, the tumor cells form small discrete tubules. MONDO:0015066 +MONDO:0857194 rectosigmoid adenocarcinoma NCIT:C43584 MONDO:equivalentTo Rectosigmoid Adenocarcinoma An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. MONDO:0005008|MONDO:0002424 +MONDO:0857195 colorectal mucinous adenocarcinoma NCIT:C43585 MONDO:equivalentTo Colorectal Mucinous Adenocarcinoma An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion. MONDO:0005008|MONDO:0004957 +MONDO:0857196 colorectal undifferentiated carcinoma NCIT:C43591 MONDO:equivalentTo Colorectal Undifferentiated Carcinoma An invasive malignant epithelial tumor that arises from the colon or rectum. There is no morphologic, immunophenotypic, or molecular biological evidence of glandular or squamous differentiation. MONDO:0005617|MONDO:0024331 +MONDO:0857198 gallbladder adenocarcinoma, intestinal-type NCIT:C43604 MONDO:equivalentTo Gallbladder Adenocarcinoma, Intestinal-Type An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells. MONDO:0006215|MONDO:0006254 +MONDO:0857199 gallbladder clear cell adenocarcinoma NCIT:C43605 MONDO:equivalentTo Gallbladder Clear Cell Adenocarcinoma A rare morphologic variant of gallbladder adenocarcinoma composed of malignant glandular epithelium with a predominance of glycogen rich clear cells. The cells display hyperchromic nuclei and well-defined cytoplasmic borders. MONDO:0006215|MONDO:0005004 +MONDO:0857200 gallbladder flat biliary intraepithelial neoplasia NCIT:C43607 MONDO:equivalentTo Gallbladder Flat Biliary Intraepithelial Neoplasia Biliary intraepithelial neoplasia that affects the gallbladder epithelium. It is characterized by the absence of intraluminal micropapillary projections. MONDO:0006218 +MONDO:0857201 gallbladder papillary biliary intraepithelial neoplasia NCIT:C43609 MONDO:equivalentTo Gallbladder Papillary Biliary Intraepithelial Neoplasia Biliary intraepithelial neoplasia that affects the gallbladder epithelium. It is characterized by the presence of intraluminal micropapillary projections. MONDO:0006218 +MONDO:0857202 pleomorphic hepatocellular carcinoma NCIT:C43625 MONDO:equivalentTo Pleomorphic Hepatocellular Carcinoma A morphologic variant of hepatocellular carcinoma, characterized by the presence of malignant cells which show marked variation in their size and shape. Bizarre mononuclear or multinucleated giant cells are often present. MONDO:0007256 +MONDO:0857203 sarcomatoid hepatocellular carcinoma NCIT:C43627 MONDO:equivalentTo Sarcomatoid Hepatocellular Carcinoma A morphologic variant of hepatocellular carcinoma characterized by the presence of malignant spindle cells or atypical giant cells. MONDO:0007256 +MONDO:0857206 accessory urethral gland neoplasm NCIT:C4378 MONDO:equivalentTo Accessory Urethral Gland Neoplasm A benign or malignant, primary or metastatic neoplasm affecting the accessory urethral gland. MONDO:0021239 +MONDO:0857208 clear cell intrahepatic cholangiocarcinoma NCIT:C43848 MONDO:equivalentTo Clear Cell Intrahepatic Cholangiocarcinoma A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise. MONDO:0005004|MONDO:0003210 MONDO:0857210 anogenital papillomaviral intraepithelial neoplasia NCIT:C4394 MONDO:equivalentTo Anogenital Papillomaviral Intraepithelial Neoplasia MONDO:0024475 -MONDO:0857211 posterior tongue neoplasm NCIT:C4400 MONDO:equivalentTo Posterior Tongue Neoplasm MONDO:0021240 -MONDO:0857212 pyriform fossa neoplasm NCIT:C4424 MONDO:equivalentTo Pyriform Fossa Neoplasm MONDO:0021358 -MONDO:0857213 gastric pylorus carcinoma in situ ajcc v6 and v7 NCIT:C4431 MONDO:equivalentTo Gastric Pylorus Carcinoma In Situ AJCC v6 and v7 MONDO:0004716|MONDO:0003971 -MONDO:0857215 lung epithelioid hemangioendothelioma NCIT:C4453 MONDO:equivalentTo Lung Epithelioid Hemangioendothelioma MONDO:0008903|MONDO:0015523 -MONDO:0857216 dermal duct tumor NCIT:C4473 MONDO:equivalentTo Dermal Duct Tumor MONDO:0006738 -MONDO:0857217 cutaneous neural neoplasm NCIT:C4479 MONDO:equivalentTo Cutaneous Neural Neoplasm MONDO:0002300|MONDO:0001406 -MONDO:0857219 malignant skin hemangiopericytoma NCIT:C4493 MONDO:equivalentTo Malignant Skin Hemangiopericytoma MONDO:0021424|MONDO:0009330 -MONDO:0857220 cockade nevus NCIT:C4495 MONDO:equivalentTo Cockade Nevus MONDO:0044794 -MONDO:0857222 common blue nevus NCIT:C4496 MONDO:equivalentTo Common Blue Nevus MONDO:0006680 -MONDO:0857223 nevus spilus NCIT:C4498 MONDO:equivalentTo Nevus Spilus MONDO:0044792 -MONDO:0857224 benign ovarian epithelial tumor NCIT:C4510 MONDO:equivalentTo Benign Ovarian Epithelial Tumor MONDO:0002229|MONDO:0036976|MONDO:0000646 -MONDO:0857229 classical low grade fibromyxoid sarcoma NCIT:C45210 MONDO:equivalentTo Classical Low Grade Fibromyxoid Sarcoma MONDO:0006272 -MONDO:0857233 cutaneous hematopoietic and lymphoid cell neoplasm NCIT:C45240 MONDO:equivalentTo Cutaneous Hematopoietic and Lymphoid Cell Neoplasm MONDO:0002531|MONDO:0044881 -MONDO:0857240 lacrimal gland pleomorphic adenoma NCIT:C4542 MONDO:equivalentTo Lacrimal Gland Pleomorphic Adenoma MONDO:0008401|MONDO:0021488 -MONDO:0857244 orbit capillary hemangioma NCIT:C4545 MONDO:equivalentTo Orbit Capillary Hemangioma MONDO:0002407|MONDO:0001974 -MONDO:0857245 orbit hemangiopericytoma NCIT:C4547 MONDO:equivalentTo Orbit Hemangiopericytoma MONDO:0005094 -MONDO:0857247 lymphangioma circumscriptum NCIT:C45485 MONDO:equivalentTo Lymphangioma Circumscriptum MONDO:0002013 -MONDO:0857248 lung squamous cell carcinoma, papillary variant NCIT:C45502 MONDO:equivalentTo Lung Squamous Cell Carcinoma, Papillary Variant MONDO:0005056|MONDO:0002979|MONDO:0056806 -MONDO:0857249 lung squamous cell carcinoma, clear cell variant NCIT:C45503 MONDO:equivalentTo Lung Squamous Cell Carcinoma, Clear Cell Variant MONDO:0005056|MONDO:0056806 -MONDO:0857250 lung squamous cell carcinoma, small cell variant NCIT:C45504 MONDO:equivalentTo Lung Squamous Cell Carcinoma, Small Cell Variant MONDO:0005056|MONDO:0005097 -MONDO:0857251 lung basaloid squamous cell carcinoma NCIT:C45507 MONDO:equivalentTo Lung Basaloid Squamous Cell Carcinoma MONDO:0003486|MONDO:0005056|MONDO:0005097 -MONDO:0857252 lung spindle cell carcinoma NCIT:C45541 MONDO:equivalentTo Lung Spindle Cell Carcinoma MONDO:0006279 -MONDO:0857253 lung pleomorphic carcinoma NCIT:C45542 MONDO:equivalentTo Lung Pleomorphic Carcinoma MONDO:0006279|MONDO:0003573 -MONDO:0857254 lung carcinosarcoma NCIT:C45543 MONDO:equivalentTo Lung Carcinosarcoma MONDO:0006279|MONDO:0002928 -MONDO:0857256 lung neuroendocrine tumor g2 NCIT:C45551 MONDO:equivalentTo Lung Neuroendocrine Tumor G2 MONDO:0006041|MONDO:0006095 -MONDO:0857259 ciliary body malignant medulloepithelioma NCIT:C4557 MONDO:equivalentTo Ciliary Body Malignant Medulloepithelioma MONDO:0017050|MONDO:0002969 -MONDO:0857260 lung squamous papilloma NCIT:C45573 MONDO:equivalentTo Lung Squamous Papilloma MONDO:0006278|MONDO:0001825 -MONDO:0857262 bronchial glandular papilloma NCIT:C45601 MONDO:equivalentTo Bronchial Glandular Papilloma MONDO:0006278|MONDO:0021078 -MONDO:0857263 bronchial mixed squamous cell and glandular papilloma NCIT:C45602 MONDO:equivalentTo Bronchial Mixed Squamous Cell and Glandular Papilloma MONDO:0021043|MONDO:0006278 -MONDO:0857264 lung pleomorphic adenoma NCIT:C45603 MONDO:equivalentTo Lung Pleomorphic Adenoma MONDO:0008401|MONDO:0003422 -MONDO:0857265 lung mucinous cystadenoma NCIT:C45604 MONDO:equivalentTo Lung Mucinous Cystadenoma MONDO:0003422|MONDO:0006859 -MONDO:0857267 lung soft tissue neoplasm NCIT:C45612 MONDO:equivalentTo Lung Soft Tissue Neoplasm MONDO:0006424|MONDO:0021117 -MONDO:0857268 malignant lung and pleural neoplasm NCIT:C45625 MONDO:equivalentTo Malignant Lung and Pleural Neoplasm MONDO:0003274 -MONDO:0857270 lung synovial sarcoma NCIT:C45631 MONDO:equivalentTo Lung Synovial Sarcoma MONDO:0002426|MONDO:0010434 -MONDO:0857273 intrapulmonary thymoma NCIT:C45638 MONDO:equivalentTo Intrapulmonary Thymoma MONDO:0006456|MONDO:0021117 -MONDO:0857274 mediastinal thymoma NCIT:C45639 MONDO:equivalentTo Mediastinal Thymoma MONDO:0006456|MONDO:0021386 -MONDO:0857275 lung melanoma NCIT:C45652 MONDO:equivalentTo Lung Melanoma MONDO:0006320|MONDO:0008903 -MONDO:0857276 pleural well differentiated papillary mesothelial tumor NCIT:C45660 MONDO:equivalentTo Pleural Well Differentiated Papillary Mesothelial Tumor MONDO:0003308|MONDO:0003688 -MONDO:0857278 pleural lymphoma NCIT:C45687 MONDO:equivalentTo Pleural Lymphoma MONDO:0017207|MONDO:0006294 -MONDO:0857279 pleural epithelioid hemangioendothelioma NCIT:C45695 MONDO:equivalentTo Pleural Epithelioid Hemangioendothelioma MONDO:0015523|MONDO:0006294 -MONDO:0857280 pleural synovial sarcoma NCIT:C45696 MONDO:equivalentTo Pleural Synovial Sarcoma MONDO:0006294|MONDO:0010434 -MONDO:0857282 micronodular thymoma with lymphoid stroma NCIT:C45706 MONDO:equivalentTo Micronodular Thymoma with Lymphoid Stroma MONDO:0006456 -MONDO:0857283 metaplastic thymoma NCIT:C45707 MONDO:equivalentTo Metaplastic Thymoma MONDO:0006456 -MONDO:0857284 microscopic thymoma NCIT:C45708 MONDO:equivalentTo Microscopic Thymoma MONDO:0006456 -MONDO:0857285 sclerosing thymoma NCIT:C45709 MONDO:equivalentTo Sclerosing Thymoma MONDO:0006456 -MONDO:0857286 malignant respiratory system neoplasm NCIT:C4571 MONDO:equivalentTo Malignant Respiratory System Neoplasm MONDO:0020641|MONDO:0004992 -MONDO:0857287 thymus lipofibroadenoma NCIT:C45710 MONDO:equivalentTo Thymus Lipofibroadenoma MONDO:0021512 -MONDO:0857289 combined thymic epithelial neoplasm NCIT:C45722 MONDO:equivalentTo Combined Thymic Epithelial Neoplasm MONDO:0018079|MONDO:0002586 -MONDO:0857290 malignant skin appendage neoplasm NCIT:C4573 MONDO:equivalentTo Malignant Skin Appendage Neoplasm MONDO:0002297|MONDO:0002898 -MONDO:0857291 mediastinal germ cell tumor with somatic-type malignancy NCIT:C45732 MONDO:equivalentTo Mediastinal Germ Cell Tumor with Somatic-Type Malignancy MONDO:0006298 -MONDO:0857292 mediastinal t lymphoblastic leukemia/lymphoma NCIT:C45738 MONDO:equivalentTo Mediastinal T Lymphoblastic Leukemia/Lymphoma MONDO:0003537|MONDO:0005843 -MONDO:0857294 mediastinal myeloid sarcoma NCIT:C45741 MONDO:equivalentTo Mediastinal Myeloid Sarcoma MONDO:0005843|MONDO:0006861 -MONDO:0857295 mediastinal paraganglioma NCIT:C45743 MONDO:equivalentTo Mediastinal Paraganglioma MONDO:0003098|MONDO:0021052 -MONDO:0857296 mediastinal solitary fibrous tumor NCIT:C45744 MONDO:equivalentTo Mediastinal Solitary Fibrous Tumor MONDO:0016238|MONDO:0003512 -MONDO:0857297 adult cardiac cellular rhabdomyoma NCIT:C45747 MONDO:equivalentTo Adult Cardiac Cellular Rhabdomyoma MONDO:0006123 -MONDO:0857298 cardiac hemangioma NCIT:C45749 MONDO:equivalentTo Cardiac Hemangioma MONDO:0021450|MONDO:0006500 -MONDO:0857300 cardiac inflammatory myofibroblastic tumor NCIT:C45753 MONDO:equivalentTo Cardiac Inflammatory Myofibroblastic Tumor MONDO:0015798|MONDO:0021209 -MONDO:0857301 cystic tumor of the atrioventricular node NCIT:C45754 MONDO:equivalentTo Cystic Tumor of the Atrioventricular Node MONDO:0021450 -MONDO:0857302 cardiac undifferentiated pleomorphic sarcoma NCIT:C45755 MONDO:equivalentTo Cardiac Undifferentiated Pleomorphic Sarcoma MONDO:0003354|MONDO:0002142 -MONDO:0857303 cardiac synovial sarcoma NCIT:C45756 MONDO:equivalentTo Cardiac Synovial Sarcoma MONDO:0003354|MONDO:0010434 -MONDO:0857305 cardiac rhabdomyosarcoma NCIT:C45759 MONDO:equivalentTo Cardiac Rhabdomyosarcoma MONDO:0003354|MONDO:0005212 -MONDO:0857306 pericardial germ cell tumor NCIT:C45761 MONDO:equivalentTo Pericardial Germ Cell Tumor MONDO:0021381|MONDO:0018201 -MONDO:0857308 corneal kaposi sarcoma NCIT:C4579 MONDO:equivalentTo Corneal Kaposi Sarcoma MONDO:0005055|MONDO:0003802 -MONDO:0857310 metastatic malignant neoplasm in the bone marrow NCIT:C4582 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Bone Marrow MONDO:0024880|MONDO:0021138 -MONDO:0857311 pancreatic neuroendocrine microtumor NCIT:C45834 MONDO:equivalentTo Pancreatic Neuroendocrine Microtumor MONDO:0004334 -MONDO:0857315 sellar gangliocytoma NCIT:C45917 MONDO:equivalentTo Sellar Gangliocytoma MONDO:0016730|MONDO:0002720 -MONDO:0857316 hypothalamic gangliocytoma NCIT:C45918 MONDO:equivalentTo Hypothalamic Gangliocytoma MONDO:0016730|MONDO:0006799 -MONDO:0857317 anterior pituitary gland neoplasm NCIT:C45921 MONDO:equivalentTo Anterior Pituitary Gland Neoplasm MONDO:0017611 -MONDO:0857319 densely granulated somatotroph pituitary neuroendocrine tumor NCIT:C45925 MONDO:equivalentTo Densely Granulated Somatotroph Pituitary Neuroendocrine Tumor MONDO:0006238 -MONDO:0857320 sparsely granulated somatotroph pituitary neuroendocrine tumor NCIT:C45926 MONDO:equivalentTo Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor MONDO:0006238 -MONDO:0857321 densely granulated lactotroph pituitary neuroendocrine tumor NCIT:C45931 MONDO:equivalentTo Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor MONDO:0010911 -MONDO:0857322 sparsely granulated lactotroph pituitary neuroendocrine tumor NCIT:C45932 MONDO:equivalentTo Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor MONDO:0010911 -MONDO:0857324 benign palate neoplasm NCIT:C4599 MONDO:equivalentTo Benign Palate Neoplasm MONDO:0005286 -MONDO:0857325 thyroid gland oncocytic neoplasm NCIT:C46068 MONDO:equivalentTo Thyroid Gland Oncocytic Neoplasm MONDO:0015074|MONDO:0010795 -MONDO:0857326 unilateral breast carcinoma NCIT:C46073 MONDO:equivalentTo Unilateral Breast Carcinoma MONDO:0004989 -MONDO:0857327 nonestrogen-dependent malignant neoplasm NCIT:C46080 MONDO:equivalentTo Nonestrogen-Dependent Malignant Neoplasm MONDO:0004992 -MONDO:0857330 macrofollicular variant thyroid gland papillary carcinoma NCIT:C46092 MONDO:equivalentTo Macrofollicular Variant Thyroid Gland Papillary Carcinoma MONDO:0005075 -MONDO:0857331 clear cell variant thyroid gland papillary carcinoma NCIT:C46094 MONDO:equivalentTo Clear Cell Variant Thyroid Gland Papillary Carcinoma MONDO:0005075|MONDO:0005004 -MONDO:0857333 thyroid gland follicular carcinoma, clear cell variant NCIT:C46096 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Clear Cell Variant MONDO:0005034|MONDO:0005004 -MONDO:0857334 sporadic thyroid gland medullary carcinoma NCIT:C46098 MONDO:equivalentTo Sporadic Thyroid Gland Medullary Carcinoma MONDO:0015277 -MONDO:0857336 thyroid gland mixed medullary and follicular cell-derived carcinoma NCIT:C46104 MONDO:equivalentTo Thyroid Gland Mixed Medullary and Follicular Cell-Derived Carcinoma MONDO:0015075|MONDO:0021069 -MONDO:0857337 intrathyroid thymic carcinoma NCIT:C46106 MONDO:equivalentTo Intrathyroid Thymic Carcinoma MONDO:0015075 -MONDO:0857338 thyroid gland follicular adenoma with papillary hyperplasia NCIT:C46111 MONDO:equivalentTo Thyroid Gland Follicular Adenoma with Papillary Hyperplasia MONDO:0002533|MONDO:0005032 -MONDO:0857339 thyroid gland signet ring cell follicular adenoma NCIT:C46115 MONDO:equivalentTo Thyroid Gland Signet Ring Cell Follicular Adenoma MONDO:0005032 -MONDO:0857340 thyroid gland mucinous follicular adenoma NCIT:C46116 MONDO:equivalentTo Thyroid Gland Mucinous Follicular Adenoma MONDO:0005032 -MONDO:0857341 thyroid gland lipoadenoma NCIT:C46118 MONDO:equivalentTo Thyroid Gland Lipoadenoma MONDO:0003431|MONDO:0005032 -MONDO:0857342 thyroid gland clear cell follicular adenoma NCIT:C46119 MONDO:equivalentTo Thyroid Gland Clear Cell Follicular Adenoma MONDO:0003426|MONDO:0005032 -MONDO:0857343 thyroid gland hyperfunctioning adenoma NCIT:C46122 MONDO:equivalentTo Thyroid Gland Hyperfunctioning Adenoma MONDO:0005032 -MONDO:0857345 thyroid gland paraganglioma NCIT:C46125 MONDO:equivalentTo Thyroid Gland Paraganglioma MONDO:0006239|MONDO:0015074 -MONDO:0857346 benign skin appendage neoplasm NCIT:C4615 MONDO:equivalentTo Benign Skin Appendage Neoplasm MONDO:0002297|MONDO:0021440 -MONDO:0857349 pineal region germ cell tumor NCIT:C4659 MONDO:equivalentTo Pineal Region Germ Cell Tumor MONDO:0003000|MONDO:0021232 -MONDO:0857356 adenocarcinoma with metaplasia NCIT:C4712 MONDO:equivalentTo Adenocarcinoma with Metaplasia MONDO:0004970 -MONDO:0857357 atypical meningioma NCIT:C4723 MONDO:equivalentTo Atypical Meningioma MONDO:0045056 -MONDO:0857358 neoplasm by morphology NCIT:C4741 MONDO:equivalentTo Neoplasm by Morphology MONDO:0005070 -MONDO:0857359 benign squamous cell neoplasm NCIT:C4742 MONDO:equivalentTo Benign Squamous Cell Neoplasm MONDO:0036976|MONDO:0002532 -MONDO:0857360 skin cavernous hemangioma NCIT:C4750 MONDO:equivalentTo Skin Cavernous Hemangioma MONDO:0003110|MONDO:0003155 -MONDO:0857361 malignant olfactory nerve neoplasm NCIT:C4768 MONDO:equivalentTo Malignant Olfactory Nerve Neoplasm MONDO:0002722|MONDO:0002433 -MONDO:0857362 benign extrahepatic bile duct neoplasm NCIT:C4776 MONDO:equivalentTo Benign Extrahepatic Bile Duct Neoplasm MONDO:0000385|MONDO:0021385 -MONDO:0857363 breast carcinoma with chondroid metaplasia NCIT:C47847 MONDO:equivalentTo Breast Carcinoma with Chondroid Metaplasia MONDO:0004274 -MONDO:0857364 breast carcinoma with osseous metaplasia NCIT:C47848 MONDO:equivalentTo Breast Carcinoma with Osseous Metaplasia MONDO:0004274 -MONDO:0857365 breast paget disease without invasive carcinoma NCIT:C47858 MONDO:equivalentTo Breast Paget Disease without Invasive Carcinoma MONDO:0002648 -MONDO:0857366 breast hyperplasia NCIT:C4804 MONDO:equivalentTo Breast Hyperplasia MONDO:0005043|MONDO:0021100 -MONDO:0857367 malignant odontogenic neoplasm NCIT:C4812 MONDO:equivalentTo Malignant Odontogenic Neoplasm MONDO:0021192|MONDO:0005515 -MONDO:0857369 tongue carcinoma NCIT:C4824 MONDO:equivalentTo Tongue Carcinoma MONDO:0004631|MONDO:0044925 -MONDO:0857370 parathyroid gland lipoadenoma NCIT:C48283 MONDO:equivalentTo Parathyroid Gland Lipoadenoma MONDO:0003431|MONDO:0006890 -MONDO:0857371 atypical parathyroid gland tumor NCIT:C48285 MONDO:equivalentTo Atypical Parathyroid Gland Tumor MONDO:0021360 -MONDO:0857375 non-metastatic paraganglioma NCIT:C48314 MONDO:equivalentTo Non-Metastatic Paraganglioma MONDO:0000448 -MONDO:0857376 nasopharyngeal paraganglioma NCIT:C48316 MONDO:equivalentTo Nasopharyngeal Paraganglioma MONDO:0006239|MONDO:0005375 -MONDO:0857377 primary bone osteosarcoma NCIT:C4834 MONDO:equivalentTo Primary Bone Osteosarcoma MONDO:0002629 -MONDO:0857378 adrenal cortical oncocytic adenoma NCIT:C48447 MONDO:equivalentTo Adrenal Cortical Oncocytic Adenoma MONDO:0003924|MONDO:0003424 -MONDO:0857379 androgen-producing adrenal cortical adenoma NCIT:C48454 MONDO:equivalentTo Androgen-Producing Adrenal Cortical Adenoma MONDO:0006408 -MONDO:0857380 estrogen-producing adrenal cortical adenoma NCIT:C48456 MONDO:equivalentTo Estrogen-Producing Adrenal Cortical Adenoma MONDO:0006408 -MONDO:0857382 invasive prostate carcinoma NCIT:C48596 MONDO:equivalentTo Invasive Prostate Carcinoma MONDO:0040677|MONDO:0005159 -MONDO:0857383 minimal deviation melanoma NCIT:C48612 MONDO:equivalentTo Minimal Deviation Melanoma MONDO:0005012 -MONDO:0857384 melanoma arising in congenital melanocytic nevus NCIT:C48613 MONDO:equivalentTo Melanoma Arising in Congenital Melanocytic Nevus MONDO:0005012 -MONDO:0857385 desmoplastic neurotropic melanoma NCIT:C48614 MONDO:equivalentTo Desmoplastic Neurotropic Melanoma MONDO:0044785 -MONDO:0857386 mucosal lentiginous melanoma NCIT:C48622 MONDO:equivalentTo Mucosal Lentiginous Melanoma MONDO:0000544 -MONDO:0857388 metastatic malignant neoplasm in the trachea NCIT:C4887 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Trachea MONDO:0001407|MONDO:0024880 -MONDO:0857389 splenic lymphoma NCIT:C48873 MONDO:equivalentTo Splenic Lymphoma MONDO:0017207|MONDO:0005966 -MONDO:0857390 dedifferentiated chordoma NCIT:C48876 MONDO:equivalentTo Dedifferentiated Chordoma MONDO:0008978 -MONDO:0857391 benign lung hilum neoplasm NCIT:C4888 MONDO:equivalentTo Benign Lung Hilum Neoplasm MONDO:0003639|MONDO:0002732 -MONDO:0857393 hiv lipodystrophy NCIT:C48899 MONDO:equivalentTo HIV Lipodystrophy MONDO:0006573|MONDO:0006574 -MONDO:0857394 gardner fibroma NCIT:C49017 MONDO:equivalentTo Gardner Fibroma MONDO:0005167 -MONDO:0857397 skin fibrous histiocytoma, fibroblastic variant NCIT:C49076 MONDO:equivalentTo Skin Fibrous Histiocytoma, Fibroblastic Variant MONDO:0006717 -MONDO:0857398 skin fibrous histiocytoma, histiocytic variant NCIT:C49077 MONDO:equivalentTo Skin Fibrous Histiocytoma, Histiocytic Variant MONDO:0006717 -MONDO:0857399 skin fibrous histiocytoma, cellular variant NCIT:C49078 MONDO:equivalentTo Skin Fibrous Histiocytoma, Cellular Variant MONDO:0006717 -MONDO:0857400 skin fibrous histiocytoma, epithelioid variant NCIT:C49079 MONDO:equivalentTo Skin Fibrous Histiocytoma, Epithelioid Variant MONDO:0006717 -MONDO:0857401 solid angioleiomyoma NCIT:C49110 MONDO:equivalentTo Solid Angioleiomyoma MONDO:0006646 -MONDO:0857402 venous angioleiomyoma NCIT:C49111 MONDO:equivalentTo Venous Angioleiomyoma MONDO:0006646 -MONDO:0857403 cavernous angioleiomyoma NCIT:C49115 MONDO:equivalentTo Cavernous Angioleiomyoma MONDO:0006646 -MONDO:0857404 conventional cardiac rhabdomyoma NCIT:C49179 MONDO:equivalentTo Conventional Cardiac Rhabdomyoma MONDO:0006123 -MONDO:0857405 anaplastic embryonal rhabdomyosarcoma NCIT:C49204 MONDO:equivalentTo Anaplastic Embryonal Rhabdomyosarcoma MONDO:0009993 -MONDO:0857407 duodenal adenoma NCIT:C4932 MONDO:equivalentTo Duodenal Adenoma MONDO:0021303|MONDO:0006734 -MONDO:0857409 benign lymphoproliferative disorder NCIT:C4939 MONDO:equivalentTo Benign Lymphoproliferative Disorder -MONDO:0857412 intracranial neoplasm NCIT:C4953 MONDO:equivalentTo Intracranial Neoplasm MONDO:0006130 -MONDO:0857413 leptomeningeal neoplasm NCIT:C4958 MONDO:equivalentTo Leptomeningeal Neoplasm MONDO:0016743 -MONDO:0857415 benign infratentorial neoplasm NCIT:C4965 MONDO:equivalentTo Benign Infratentorial Neoplasm MONDO:0021451|MONDO:0037736 -MONDO:0857417 primary brain stem neoplasm NCIT:C4975 MONDO:equivalentTo Primary Brain Stem Neoplasm MONDO:0021228|MONDO:0021632 -MONDO:0857419 carcinoma unspecified site NCIT:C4979 MONDO:equivalentTo Carcinoma Unspecified Site MONDO:0004993 -MONDO:0857430 verrucous lesion NCIT:C5028 MONDO:equivalentTo Verrucous Lesion MONDO:0002532 -MONDO:0857438 primary cerebral diffuse large b-cell lymphoma NCIT:C5054 MONDO:equivalentTo Primary Cerebral Diffuse Large B-Cell Lymphoma MONDO:0003655|MONDO:0017596 -MONDO:0857466 renomedullary interstitial cell tumor NCIT:C5100 MONDO:equivalentTo Renomedullary Interstitial Cell Tumor MONDO:0002513 -MONDO:0857469 solid glomus tumor NCIT:C51133 MONDO:equivalentTo Solid Glomus Tumor MONDO:0018327 -MONDO:0857473 adult central nervous system neoplasm NCIT:C5131 MONDO:equivalentTo Adult Central Nervous System Neoplasm MONDO:0006130 -MONDO:0857476 breast ductal carcinoma in situ, non-comedo type NCIT:C5137 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Non-Comedo Type MONDO:0005023 -MONDO:0857477 invasive breast cribriform carcinoma NCIT:C5142 MONDO:equivalentTo Invasive Breast Cribriform Carcinoma MONDO:0006256|MONDO:0004988|MONDO:0006176 -MONDO:0857478 malignant breast adenomyoepithelioma NCIT:C5143 MONDO:equivalentTo Malignant Breast Adenomyoepithelioma MONDO:0007254|MONDO:0002066 -MONDO:0857479 infratentorial glioblastoma NCIT:C5148 MONDO:equivalentTo Infratentorial Glioblastoma MONDO:0003107|MONDO:0002501 -MONDO:0857480 supratentorial glioblastoma NCIT:C5149 MONDO:equivalentTo Supratentorial Glioblastoma MONDO:0002071|MONDO:0002501 -MONDO:0857482 breast high grade mucoepidermoid carcinoma NCIT:C5167 MONDO:equivalentTo Breast High Grade Mucoepidermoid Carcinoma MONDO:0003087 -MONDO:0857483 breast low grade mucoepidermoid carcinoma NCIT:C5168 MONDO:equivalentTo Breast Low Grade Mucoepidermoid Carcinoma MONDO:0003087 -MONDO:0857486 breast non-hodgkin lymphoma NCIT:C5181 MONDO:equivalentTo Breast Non-Hodgkin Lymphoma MONDO:0003661|MONDO:0018908 -MONDO:0857487 breast complex fibroadenoma NCIT:C5194 MONDO:equivalentTo Breast Complex Fibroadenoma MONDO:0002056 -MONDO:0857488 benign nipple neoplasm NCIT:C5197 MONDO:equivalentTo Benign Nipple Neoplasm MONDO:0002482|MONDO:0000620 -MONDO:0857490 breast papillary neoplasm NCIT:C5206 MONDO:equivalentTo Breast Papillary Neoplasm MONDO:0021096|MONDO:0021100 -MONDO:0857492 malignant nipple neoplasm NCIT:C5213 MONDO:equivalentTo Malignant Nipple Neoplasm MONDO:0007254|MONDO:0002482 -MONDO:0857493 benign ovarian thecoma NCIT:C5219 MONDO:equivalentTo Benign Ovarian Thecoma MONDO:0024387|MONDO:0037253 -MONDO:0857496 ovarian soft tissue neoplasm NCIT:C5244 MONDO:equivalentTo Ovarian Soft Tissue Neoplasm MONDO:0021068|MONDO:0006424 -MONDO:0857498 gastric burkitt lymphoma NCIT:C5251 MONDO:equivalentTo Gastric Burkitt Lymphoma MONDO:0007243|MONDO:0042493 -MONDO:0857499 gastric t-cell non-hodgkin lymphoma NCIT:C5254 MONDO:equivalentTo Gastric T-Cell Non-Hodgkin Lymphoma MONDO:0015760|MONDO:0042493 -MONDO:0857502 deletion of the short arm of chromosome 1 (1p) associated meningioma NCIT:C5294 MONDO:equivalentTo Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma MONDO:0016642 -MONDO:0857503 deletion of chromosome 22 associated meningioma NCIT:C5305 MONDO:equivalentTo Deletion of Chromosome 22 Associated Meningioma MONDO:0016642 -MONDO:0857504 deletion of chromosome 3p associated meningioma NCIT:C5306 MONDO:equivalentTo Deletion of Chromosome 3p Associated Meningioma MONDO:0016642 -MONDO:0857507 extra-adrenal retroperitoneal paraganglioma NCIT:C5328 MONDO:equivalentTo Extra-Adrenal Retroperitoneal Paraganglioma MONDO:0000550|MONDO:0024645 -MONDO:0857508 hereditary paraganglioma NCIT:C5329 MONDO:equivalentTo Hereditary Paraganglioma MONDO:0000448 -MONDO:0857513 great vessel neoplasm NCIT:C5348 MONDO:equivalentTo Great Vessel Neoplasm MONDO:0024757 -MONDO:0857514 mesenchymal chondrosarcoma of bone NCIT:C53493 MONDO:equivalentTo Mesenchymal Chondrosarcoma of Bone MONDO:0021054|MONDO:0006853 -MONDO:0857518 cardiac schwannoma NCIT:C5358 MONDO:equivalentTo Cardiac Schwannoma MONDO:0004820|MONDO:0021450 -MONDO:0857519 cardiac epithelioid hemangioendothelioma NCIT:C5362 MONDO:equivalentTo Cardiac Epithelioid Hemangioendothelioma MONDO:0015523|MONDO:0001340 -MONDO:0857520 cardiac kaposi sarcoma NCIT:C5363 MONDO:equivalentTo Cardiac Kaposi Sarcoma MONDO:0005055|MONDO:0003354 -MONDO:0857524 cardiac myeloid sarcoma NCIT:C5370 MONDO:equivalentTo Cardiac Myeloid Sarcoma MONDO:0001340|MONDO:0006861 -MONDO:0857525 secondary osteosarcoma NCIT:C53704 MONDO:equivalentTo Secondary Osteosarcoma MONDO:0002629|MONDO:0024881 -MONDO:0857526 malignant inferior vena cava neoplasm NCIT:C5377 MONDO:equivalentTo Malignant Inferior Vena Cava Neoplasm MONDO:0040676 -MONDO:0857527 malignant superior vena cava neoplasm NCIT:C5379 MONDO:equivalentTo Malignant Superior Vena Cava Neoplasm MONDO:0040676 -MONDO:0857528 malignant pulmonary artery neoplasm NCIT:C5380 MONDO:equivalentTo Malignant Pulmonary Artery Neoplasm MONDO:0040676 -MONDO:0857529 malignant pulmonary vein neoplasm NCIT:C5383 MONDO:equivalentTo Malignant Pulmonary Vein Neoplasm MONDO:0040676 -MONDO:0857532 leiomyosarcoma of vessels NCIT:C5387 MONDO:equivalentTo Leiomyosarcoma of Vessels MONDO:0005058 -MONDO:0857533 benign atrial neoplasm NCIT:C5389 MONDO:equivalentTo Benign Atrial Neoplasm MONDO:0021450 -MONDO:0857535 solitary adult fibroma NCIT:C5394 MONDO:equivalentTo Solitary Adult Fibroma MONDO:0005167 -MONDO:0857536 fibrous histiocytoma of bone NCIT:C53963 MONDO:equivalentTo Fibrous Histiocytoma of Bone MONDO:0000631|MONDO:0002989 -MONDO:0857537 bone leiomyoma NCIT:C53964 MONDO:equivalentTo Bone Leiomyoma MONDO:0001572 -MONDO:0857542 benign gastrointestinal stromal tumor NCIT:C53998 MONDO:equivalentTo Benign Gastrointestinal Stromal Tumor MONDO:0044335|MONDO:0011719 -MONDO:0857543 malignant gastrointestinal stromal tumor NCIT:C53999 MONDO:equivalentTo Malignant Gastrointestinal Stromal Tumor MONDO:0011719|MONDO:0044337 -MONDO:0857546 region 17p13 allelic loss associated medulloblastoma NCIT:C5402 MONDO:equivalentTo Region 17p13 Allelic Loss Associated Medulloblastoma MONDO:0007959 -MONDO:0857547 nevoid basal cell carcinoma syndrome associated medulloblastoma NCIT:C5405 MONDO:equivalentTo Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma MONDO:0007959 -MONDO:0857548 central nervous system t-cell non-hodgkin lymphoma NCIT:C5409 MONDO:equivalentTo Central Nervous System T-Cell Non-Hodgkin Lymphoma MONDO:0015760|MONDO:0044887 -MONDO:0857549 gastric granular cell tumor NCIT:C54094 MONDO:equivalentTo Gastric Granular Cell Tumor MONDO:0006235|MONDO:0021085 -MONDO:0857550 malignant central nervous system germ cell tumor NCIT:C54099 MONDO:equivalentTo Malignant Central Nervous System Germ Cell Tumor MONDO:0003113|MONDO:0003000|MONDO:0002714 -MONDO:0857552 breast columnar cell lesion NCIT:C54180 MONDO:equivalentTo Breast Columnar Cell Lesion MONDO:0021100 -MONDO:0857556 head and neck keratinizing squamous cell carcinoma NCIT:C54283 MONDO:equivalentTo Head and Neck Keratinizing Squamous Cell Carcinoma MONDO:0005056|MONDO:0010150 -MONDO:0857559 metastasizing ameloblastoma NCIT:C54297 MONDO:equivalentTo Metastasizing Ameloblastoma MONDO:0024883|MONDO:0017795 -MONDO:0857562 lipomatosis of nerve NCIT:C5431 MONDO:equivalentTo Lipomatosis of Nerve MONDO:0000648|MONDO:0001406|MONDO:0006574 -MONDO:0857564 laryngeal papillary squamous cell carcinoma NCIT:C54335 MONDO:equivalentTo Laryngeal Papillary Squamous Cell Carcinoma MONDO:0002979|MONDO:0005595 -MONDO:0857565 laryngeal spindle cell squamous carcinoma NCIT:C54336 MONDO:equivalentTo Laryngeal Spindle Cell Squamous Carcinoma MONDO:0005595|MONDO:0021663 -MONDO:0857566 laryngeal acantholytic squamous cell carcinoma NCIT:C54337 MONDO:equivalentTo Laryngeal Acantholytic Squamous Cell Carcinoma MONDO:0003487|MONDO:0005595 -MONDO:0857567 laryngeal adenosquamous carcinoma NCIT:C54338 MONDO:equivalentTo Laryngeal Adenosquamous Carcinoma MONDO:0002358|MONDO:0006074 -MONDO:0857568 laryngeal undifferentiated carcinoma NCIT:C54339 MONDO:equivalentTo Laryngeal Undifferentiated Carcinoma MONDO:0002358|MONDO:0005617 -MONDO:0857570 kadish stage c olfactory neuroblastoma NCIT:C5435 MONDO:equivalentTo Kadish Stage C Olfactory Neuroblastoma MONDO:0006329 -MONDO:0857571 drop metastasis in the spinal cord NCIT:C5439 MONDO:equivalentTo Drop Metastasis in the Spinal Cord MONDO:0044912 -MONDO:0857572 nasopharyngeal low grade papillary adenocarcinoma NCIT:C54400 MONDO:equivalentTo Nasopharyngeal Low Grade Papillary Adenocarcinoma MONDO:0015459|MONDO:0002512 -MONDO:0857574 meningeal gliomatosis NCIT:C5446 MONDO:equivalentTo Meningeal Gliomatosis MONDO:0100342|MONDO:0021322 -MONDO:0857575 invasive breast apocrine carcinoma NCIT:C5457 MONDO:equivalentTo Invasive Breast Apocrine Carcinoma MONDO:0006256|MONDO:0003934 -MONDO:0857576 breast nevus NCIT:C54658 MONDO:equivalentTo Breast Nevus MONDO:0044794|MONDO:0000620 -MONDO:0857577 acral nevus NCIT:C54659 MONDO:equivalentTo Acral Nevus MONDO:0044794 -MONDO:0857578 flexural skin nevus NCIT:C54660 MONDO:equivalentTo Flexural Skin Nevus MONDO:0044794 -MONDO:0857580 nevoid melanoma NCIT:C54662 MONDO:equivalentTo Nevoid Melanoma MONDO:0005012 -MONDO:0857581 signet ring melanoma NCIT:C54663 MONDO:equivalentTo Signet Ring Melanoma MONDO:0005012 -MONDO:0857583 invasive breast lobular carcinoma, signet ring variant NCIT:C54691 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Signet Ring Variant MONDO:0005051|MONDO:0002671 -MONDO:0857587 central nervous system dermoid cyst NCIT:C5508 MONDO:equivalentTo Central Nervous System Dermoid Cyst MONDO:0002378|MONDO:0003733 -MONDO:0857589 appendix mucinous cystadenoma NCIT:C5510 MONDO:equivalentTo Appendix Mucinous Cystadenoma MONDO:0006088|MONDO:0006859 -MONDO:0857592 prostate kaposi sarcoma NCIT:C5523 MONDO:equivalentTo Prostate Kaposi Sarcoma MONDO:0005055|MONDO:0002854 -MONDO:0857593 prostate myeloid sarcoma NCIT:C5527 MONDO:equivalentTo Prostate Myeloid Sarcoma MONDO:0008315|MONDO:0006861 -MONDO:0857595 prostate non-hodgkin lymphoma NCIT:C5534 MONDO:equivalentTo Prostate Non-Hodgkin Lymphoma MONDO:0000996|MONDO:0018908 -MONDO:0857596 ceruminous neoplasm NCIT:C5558 MONDO:equivalentTo Ceruminous Neoplasm MONDO:0003686|MONDO:0021235 -MONDO:0857599 stage i skin cancer NCIT:C5581 MONDO:equivalentTo Stage I Skin Cancer MONDO:0002656 -MONDO:0857600 stage ii skin cancer NCIT:C5582 MONDO:equivalentTo Stage II Skin Cancer MONDO:0002656 -MONDO:0857601 stage iii skin cancer NCIT:C5583 MONDO:equivalentTo Stage III Skin Cancer MONDO:0002656 -MONDO:0857602 stage iv skin cancer NCIT:C5584 MONDO:equivalentTo Stage IV Skin Cancer MONDO:0002656 -MONDO:0857604 jugular foramen neoplasm NCIT:C5589 MONDO:equivalentTo Jugular Foramen Neoplasm MONDO:0021351 -MONDO:0857607 benign anal granular cell tumor NCIT:C5607 MONDO:equivalentTo Benign Anal Granular Cell Tumor MONDO:0021469|MONDO:0003250 -MONDO:0857611 metastatic malignant neoplasm in the skin NCIT:C5629 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Skin MONDO:0002898|MONDO:0024880 -MONDO:0857613 occult lung carcinoma NCIT:C5641 MONDO:equivalentTo Occult Lung Carcinoma MONDO:0005138 -MONDO:0857614 endobronchial hamartoma NCIT:C5662 MONDO:equivalentTo Endobronchial Hamartoma MONDO:0021540 -MONDO:0857615 multiple pulmonary hamartomas NCIT:C5663 MONDO:equivalentTo Multiple Pulmonary Hamartomas MONDO:0021540 -MONDO:0857619 colorectal adenoma with severe dysplasia NCIT:C5685 MONDO:equivalentTo Colorectal Adenoma with Severe Dysplasia MONDO:0005484 -MONDO:0857623 esophageal schwannoma NCIT:C5703 MONDO:equivalentTo Esophageal Schwannoma MONDO:0004820|MONDO:0021459 -MONDO:0857629 extrahepatic bile duct undifferentiated carcinoma NCIT:C5780 MONDO:equivalentTo Extrahepatic Bile Duct Undifferentiated Carcinoma MONDO:0003090|MONDO:0005617 -MONDO:0857635 esophageal neuroendocrine neoplasm NCIT:C5821 MONDO:equivalentTo Esophageal Neuroendocrine Neoplasm MONDO:0021355|MONDO:0024503 -MONDO:0857638 extrahepatic bile duct tubular adenoma NCIT:C5850 MONDO:equivalentTo Extrahepatic Bile Duct Tubular Adenoma MONDO:0003445|MONDO:0024660 -MONDO:0857646 oral cavity granular cell tumor NCIT:C5912 MONDO:equivalentTo Oral Cavity Granular Cell Tumor MONDO:0021245|MONDO:0006235 -MONDO:0857647 oral cavity adenoma NCIT:C5913 MONDO:equivalentTo Oral Cavity Adenoma MONDO:0021445|MONDO:0036976|MONDO:0004972 -MONDO:0857648 oral cavity adenocarcinoma NCIT:C5914 MONDO:equivalentTo Oral Cavity Adenocarcinoma MONDO:0044925|MONDO:0004970 -MONDO:0857660 minor salivary gland mucoepidermoid carcinoma NCIT:C5953 MONDO:equivalentTo Minor Salivary Gland Mucoepidermoid Carcinoma MONDO:0045069|MONDO:0021009 -MONDO:0857661 minor salivary gland small cell neuroendocrine carcinoma NCIT:C5956 MONDO:equivalentTo Minor Salivary Gland Small Cell Neuroendocrine Carcinoma MONDO:0045069|MONDO:0006405 -MONDO:0857663 minor salivary gland squamous cell carcinoma NCIT:C5959 MONDO:equivalentTo Minor Salivary Gland Squamous Cell Carcinoma MONDO:0044740|MONDO:0045069 -MONDO:0857671 oropharyngeal polyp NCIT:C5988 MONDO:equivalentTo Oropharyngeal Polyp MONDO:0021479|MONDO:0005079 -MONDO:0857679 lung mature b-cell neoplasm NCIT:C60310 MONDO:equivalentTo Lung Mature B-Cell Neoplasm MONDO:0021117|MONDO:0004949 -MONDO:0857682 nasopharyngeal polyp NCIT:C6034 MONDO:equivalentTo Nasopharyngeal Polyp MONDO:0021478|MONDO:0005079 -MONDO:0857683 stage 0 nasopharyngeal undifferentiated carcinoma ajcc v6, v7, and v8 NCIT:C6035 MONDO:equivalentTo Stage 0 Nasopharyngeal Undifferentiated Carcinoma AJCC v6, v7, and v8 MONDO:0021297|MONDO:0021537 -MONDO:0857685 nasopharyngeal squamous papilloma NCIT:C6037 MONDO:equivalentTo Nasopharyngeal Squamous Papilloma MONDO:0001825|MONDO:0021478 -MONDO:0857686 oropharyngeal squamous papilloma NCIT:C6038 MONDO:equivalentTo Oropharyngeal Squamous Papilloma MONDO:0021479|MONDO:0001825 -MONDO:0857687 stage 0 oropharyngeal squamous cell carcinoma ajcc v6 and v7 NCIT:C6039 MONDO:equivalentTo Stage 0 Oropharyngeal Squamous Cell Carcinoma AJCC v6 and v7 MONDO:0044704|MONDO:0021298 -MONDO:0857689 stage 0 hypopharyngeal squamous cell carcinoma ajcc v6, v7, and v8 NCIT:C6048 MONDO:equivalentTo Stage 0 Hypopharyngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 MONDO:0021288|MONDO:0044638 -MONDO:0857690 stage 0 oral cavity squamous cell carcinoma ajcc v6 and v7 NCIT:C6052 MONDO:equivalentTo Stage 0 Oral Cavity Squamous Cell Carcinoma AJCC v6 and v7 MONDO:0004958|MONDO:0000371|MONDO:0004693 -MONDO:0857692 anterior tongue neoplasm NCIT:C6062 MONDO:equivalentTo Anterior Tongue Neoplasm MONDO:0021240 -MONDO:0857697 neck carcinoma NCIT:C6077 MONDO:equivalentTo Neck Carcinoma MONDO:0021310|MONDO:0002038 -MONDO:0857698 external ear actinic keratosis NCIT:C6080 MONDO:equivalentTo External Ear Actinic Keratosis MONDO:0021235|MONDO:0005173 -MONDO:0857700 middle ear paraganglioma NCIT:C6085 MONDO:equivalentTo Middle Ear Paraganglioma MONDO:0021366|MONDO:0021064 -MONDO:0857702 benign uveal neoplasm NCIT:C6104 MONDO:equivalentTo Benign Uveal Neoplasm MONDO:0021454|MONDO:0021225 -MONDO:0857703 stage 0 laryngeal squamous cell carcinoma ajcc v6, v7, and v8 NCIT:C6121 MONDO:equivalentTo Stage 0 Laryngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 MONDO:0004696|MONDO:0005595|MONDO:0004693 -MONDO:0857715 testicular typical seminoma NCIT:C61383 MONDO:equivalentTo Testicular Typical Seminoma MONDO:0003669 -MONDO:0857719 ureter undifferentiated carcinoma NCIT:C6159 MONDO:equivalentTo Ureter Undifferentiated Carcinoma MONDO:0006481|MONDO:0005617 -MONDO:0857720 urethral undifferentiated carcinoma NCIT:C6168 MONDO:equivalentTo Urethral Undifferentiated Carcinoma MONDO:0021327|MONDO:0005617 -MONDO:0857725 hard palate mucoepidermoid carcinoma NCIT:C6214 MONDO:equivalentTo Hard Palate Mucoepidermoid Carcinoma MONDO:0021339|MONDO:0044964 -MONDO:0857728 salivary gland clear cell carcinoma NCIT:C62191 MONDO:equivalentTo Salivary Gland Clear Cell Carcinoma MONDO:0000521 -MONDO:0857729 breast tubular adenoma NCIT:C62210 MONDO:equivalentTo Breast Tubular Adenoma MONDO:0002058 -MONDO:0857730 conjunctival squamous papilloma NCIT:C6224 MONDO:equivalentTo Conjunctival Squamous Papilloma MONDO:0001825|MONDO:0006105 -MONDO:0857731 skin nodular basal cell carcinoma NCIT:C62282 MONDO:equivalentTo Skin Nodular Basal Cell Carcinoma MONDO:0005341 -MONDO:0857732 superficial basal cell carcinoma NCIT:C62284 MONDO:equivalentTo Superficial Basal Cell Carcinoma MONDO:0005341 -MONDO:0857734 minor salivary gland acinic cell carcinoma NCIT:C6243 MONDO:equivalentTo Minor Salivary Gland Acinic Cell Carcinoma MONDO:0006400|MONDO:0006304 -MONDO:0857736 ovarian endometrioid tumor NCIT:C6257 MONDO:equivalentTo Ovarian Endometrioid Tumor MONDO:0002480|MONDO:0002229 -MONDO:0857738 childhood cerebral ependymoma, not otherwise specified NCIT:C6268 MONDO:equivalentTo Childhood Cerebral Ependymoma, Not Otherwise Specified MONDO:0004249 -MONDO:0857739 fallopian tube undifferentiated carcinoma NCIT:C6281 MONDO:equivalentTo Fallopian Tube Undifferentiated Carcinoma MONDO:0006206|MONDO:0005617 -MONDO:0857740 vaginal verrucous carcinoma NCIT:C6325 MONDO:equivalentTo Vaginal Verrucous Carcinoma MONDO:0006006|MONDO:0006490 -MONDO:0857743 benign uterine corpus mixed epithelial and mesenchymal neoplasm NCIT:C6335 MONDO:equivalentTo Benign Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm MONDO:0016255|MONDO:0021525 -MONDO:0857744 cervical undifferentiated carcinoma NCIT:C6345 MONDO:equivalentTo Cervical Undifferentiated Carcinoma MONDO:0005131|MONDO:0005617 -MONDO:0857745 testicular mixed embryonal carcinoma and seminoma NCIT:C6350 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Seminoma MONDO:0003120 -MONDO:0857746 testicular mixed embryonal carcinoma and teratoma NCIT:C6351 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Teratoma MONDO:0003120|MONDO:0003403|MONDO:0002599 -MONDO:0857747 testicular mixed embryonal carcinoma and teratoma with seminoma NCIT:C6352 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Teratoma with Seminoma MONDO:0003120 -MONDO:0857748 kidney lymphoma NCIT:C63532 MONDO:equivalentTo Kidney Lymphoma MONDO:0002367|MONDO:0017207 -MONDO:0857750 testicular mature teratoma NCIT:C6355 MONDO:equivalentTo Testicular Mature Teratoma MONDO:0003517|MONDO:0018193|MONDO:0021447 -MONDO:0857752 undifferentiated carcinoma with osteoclast-like giant cells NCIT:C63622 MONDO:equivalentTo Undifferentiated Carcinoma with Osteoclast-Like Giant Cells MONDO:0005617 -MONDO:0857753 penile kaposi sarcoma NCIT:C6377 MONDO:equivalentTo Penile Kaposi Sarcoma MONDO:0005055|MONDO:0001387|MONDO:0022293 -MONDO:0857758 orbit paraganglioma NCIT:C6408 MONDO:equivalentTo Orbit Paraganglioma MONDO:0006239|MONDO:0024611 -MONDO:0857759 laryngeal paraganglioma NCIT:C6409 MONDO:equivalentTo Laryngeal Paraganglioma MONDO:0015070|MONDO:0006239|MONDO:0021052 -MONDO:0857760 intrathoracic paravertebral paraganglioma NCIT:C6411 MONDO:equivalentTo Intrathoracic Paravertebral Paraganglioma MONDO:0000550|MONDO:0021350 -MONDO:0857763 foregut neuroendocrine tumor NCIT:C6421 MONDO:equivalentTo Foregut Neuroendocrine Tumor MONDO:0000386 -MONDO:0857765 hindgut neuroendocrine tumor NCIT:C6423 MONDO:equivalentTo Hindgut Neuroendocrine Tumor MONDO:0000386 -MONDO:0857767 malignant mediastinal nongerminomatous germ cell tumor NCIT:C6439 MONDO:equivalentTo Malignant Mediastinal Nongerminomatous Germ Cell Tumor MONDO:0003578|MONDO:0006298 -MONDO:0857768 gastric germ cell tumor NCIT:C6448 MONDO:equivalentTo Gastric Germ Cell Tumor MONDO:0018201|MONDO:0021085 -MONDO:0857769 benign germ cell tumor NCIT:C6449 MONDO:equivalentTo Benign Germ Cell Tumor MONDO:0005040|MONDO:0005165 -MONDO:0857770 invasive thymoma NCIT:C6453 MONDO:equivalentTo Invasive Thymoma MONDO:0006456 -MONDO:0857771 bone hemangioma NCIT:C6477 MONDO:equivalentTo Bone Hemangioma MONDO:0024499|MONDO:0000631|MONDO:0006500 -MONDO:0857772 bone glomus tumor NCIT:C6480 MONDO:equivalentTo Bone Glomus Tumor MONDO:0019060|MONDO:0018327 -MONDO:0857773 extraabdominal fibromatosis NCIT:C6489 MONDO:equivalentTo Extraabdominal Fibromatosis MONDO:0007608 -MONDO:0857774 deep lipoma NCIT:C6498 MONDO:equivalentTo Deep Lipoma MONDO:0005106 -MONDO:0857775 benign skeletal muscle neoplasm NCIT:C6515 MONDO:equivalentTo Benign Skeletal Muscle Neoplasm MONDO:0002848|MONDO:0003061 -MONDO:0857776 non-small cell carcinoma NCIT:C65151 MONDO:equivalentTo Non-Small Cell Carcinoma MONDO:0004993 -MONDO:0857777 malignant neoplasm, uncertain whether primary or metastatic NCIT:C65153 MONDO:equivalentTo Malignant Neoplasm, Uncertain Whether Primary or Metastatic MONDO:0004992 -MONDO:0857778 papillary carcinoma in situ NCIT:C65163 MONDO:equivalentTo Papillary Carcinoma In Situ MONDO:0004647|MONDO:0006509 -MONDO:0857779 non-invasive papillary squamous cell carcinoma NCIT:C65164 MONDO:equivalentTo Non-Invasive Papillary Squamous Cell Carcinoma MONDO:0002979 -MONDO:0857780 inverted squamous papilloma NCIT:C65165 MONDO:equivalentTo Inverted Squamous Papilloma MONDO:0002537|MONDO:0001825 -MONDO:0857781 non-keratinizing large cell squamous cell carcinoma NCIT:C65173 MONDO:equivalentTo Non-Keratinizing Large Cell Squamous Cell Carcinoma MONDO:0005096 -MONDO:0857782 non-keratinizing small cell squamous cell carcinoma NCIT:C65175 MONDO:equivalentTo Non-Keratinizing Small Cell Squamous Cell Carcinoma MONDO:0005096 -MONDO:0857783 squamous cell carcinoma in situ with questionable stromal invasion NCIT:C65176 MONDO:equivalentTo Squamous Cell Carcinoma In Situ with Questionable Stromal Invasion MONDO:0005096 -MONDO:0857785 squamous cell carcinoma with horn formation NCIT:C65179 MONDO:equivalentTo Squamous Cell Carcinoma with Horn Formation MONDO:0005056 -MONDO:0857786 squamous cell carcinoma, clear cell type NCIT:C65180 MONDO:equivalentTo Squamous Cell Carcinoma, Clear Cell Type MONDO:0005096 -MONDO:0857787 non-invasive papillary transitional cell carcinoma NCIT:C65181 MONDO:equivalentTo Non-Invasive Papillary Transitional Cell Carcinoma MONDO:0006350 -MONDO:0857789 malignant pancreatic insulinoma NCIT:C65186 MONDO:equivalentTo Malignant Pancreatic Insulinoma MONDO:0024677 -MONDO:0857790 malignant pancreatic glucagonoma NCIT:C65187 MONDO:equivalentTo Malignant Pancreatic Glucagonoma MONDO:0019959 -MONDO:0857791 malignant gastrinoma NCIT:C65188 MONDO:equivalentTo Malignant Gastrinoma MONDO:0003523 -MONDO:0857792 malignant vipoma NCIT:C65189 MONDO:equivalentTo Malignant Vipoma MONDO:0019960 -MONDO:0857793 malignant somatostatinoma NCIT:C65190 MONDO:equivalentTo Malignant Somatostatinoma MONDO:0006976 -MONDO:0857794 flat adenoma NCIT:C65193 MONDO:equivalentTo Flat Adenoma MONDO:0006180 -MONDO:0857795 glandular papillomatosis NCIT:C65198 MONDO:equivalentTo Glandular Papillomatosis MONDO:0021098 -MONDO:0857796 thyroid gland follicular carcinoma, minimally invasive NCIT:C65200 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Minimally Invasive MONDO:0040677|MONDO:0005034 -MONDO:0857797 papillary mucinous cystadenocarcinoma NCIT:C65204 MONDO:equivalentTo Papillary Mucinous Cystadenocarcinoma MONDO:0005858|MONDO:0005074 -MONDO:0857798 malignant testicular sertoli cell tumor NCIT:C6523 MONDO:equivalentTo Malignant Testicular Sertoli Cell Tumor MONDO:0000378|MONDO:0020808 -MONDO:0857799 malignant pericytic neoplasm NCIT:C6530 MONDO:equivalentTo Malignant Pericytic Neoplasm MONDO:0002604|MONDO:0024637 -MONDO:0857802 ancient schwannoma NCIT:C6556 MONDO:equivalentTo Ancient Schwannoma MONDO:0002546 -MONDO:0857803 extraskeletal cartilaginous and osseous neoplasm NCIT:C6570 MONDO:equivalentTo Extraskeletal Cartilaginous and Osseous Neoplasm MONDO:0006424 -MONDO:0857804 intramuscular myxoma NCIT:C6579 MONDO:equivalentTo Intramuscular Myxoma MONDO:0044784 -MONDO:0857805 juxta-articular myxoma NCIT:C6580 MONDO:equivalentTo Juxta-Articular Myxoma MONDO:0044784 -MONDO:0857806 peripheral neuroblastoma NCIT:C6591 MONDO:equivalentTo Peripheral Neuroblastoma MONDO:0002749|MONDO:0021089 -MONDO:0857807 benign mediastinal soft tissue neoplasm NCIT:C6593 MONDO:equivalentTo Benign Mediastinal Soft Tissue Neoplasm MONDO:0003512|MONDO:0044335|MONDO:0021521 -MONDO:0857810 soft tissue fibrosarcoma NCIT:C6605 MONDO:equivalentTo Soft Tissue Fibrosarcoma MONDO:0018078|MONDO:0005164 -MONDO:0857811 mediastinal malignant peripheral nerve sheath tumor NCIT:C6626 MONDO:equivalentTo Mediastinal Malignant Peripheral Nerve Sheath Tumor MONDO:0003098|MONDO:0002852|MONDO:0017827 -MONDO:0857812 mediastinal ganglioneuroma NCIT:C6632 MONDO:equivalentTo Mediastinal Ganglioneuroma MONDO:0003098|MONDO:0021521|MONDO:0005033 -MONDO:0857813 mediastinal hodgkin lymphoma NCIT:C6634 MONDO:equivalentTo Mediastinal Hodgkin Lymphoma MONDO:0004952|MONDO:0004021 -MONDO:0857814 stage 1 neuroblastoma NCIT:C6638 MONDO:equivalentTo Stage 1 Neuroblastoma MONDO:0005072 -MONDO:0857815 stage 2 neuroblastoma NCIT:C6639 MONDO:equivalentTo Stage 2 Neuroblastoma MONDO:0005072 -MONDO:0857816 stage 3 neuroblastoma NCIT:C6640 MONDO:equivalentTo Stage 3 Neuroblastoma MONDO:0005072 -MONDO:0857817 stage 4 neuroblastoma NCIT:C6641 MONDO:equivalentTo Stage 4 Neuroblastoma MONDO:0005072 -MONDO:0857821 breast atypical medullary carcinoma NCIT:C66719 MONDO:equivalentTo Breast Atypical Medullary Carcinoma MONDO:0004953 -MONDO:0857822 adenocarcinoma with neuroendocrine differentiation NCIT:C66745 MONDO:equivalentTo Adenocarcinoma with Neuroendocrine Differentiation MONDO:0004970 -MONDO:0857823 testicular sex cord-stromal tumor, not otherwise specified NCIT:C66748 MONDO:equivalentTo Testicular Sex Cord-Stromal Tumor, Not Otherwise Specified MONDO:0003125 -MONDO:0857824 ovarian stromal tumor with minor sex cord elements NCIT:C66749 MONDO:equivalentTo Ovarian Stromal Tumor with Minor Sex Cord Elements MONDO:0021657 -MONDO:0857825 adult granulosa cell tumor NCIT:C66750 MONDO:equivalentTo Adult Granulosa Cell Tumor MONDO:0006036 -MONDO:0857826 melanoma in precancerous melanosis NCIT:C66753 MONDO:equivalentTo Melanoma in Precancerous Melanosis MONDO:0005012 -MONDO:0857827 small congenital melanocytic nevus NCIT:C66754 MONDO:equivalentTo Small Congenital Melanocytic Nevus MONDO:0044792 -MONDO:0857828 proliferative nodules in congenital melanocytic nevus NCIT:C66755 MONDO:equivalentTo Proliferative Nodules in Congenital Melanocytic Nevus MONDO:0044792 -MONDO:0857829 periosteal fibroma NCIT:C66761 MONDO:equivalentTo Periosteal Fibroma MONDO:0000631|MONDO:0005167 -MONDO:0857830 fascial fibroma NCIT:C66764 MONDO:equivalentTo Fascial Fibroma MONDO:0005167 -MONDO:0857831 fascial fibrosarcoma NCIT:C66765 MONDO:equivalentTo Fascial Fibrosarcoma MONDO:0005164 -MONDO:0857834 choriocarcinoma combined with other germ cell elements NCIT:C66777 MONDO:equivalentTo Choriocarcinoma Combined with Other Germ Cell Elements MONDO:0015864|MONDO:0005853 -MONDO:0857835 hemolymphangioma NCIT:C66792 MONDO:equivalentTo Hemolymphangioma MONDO:0002013 -MONDO:0857836 ganglioneuromatosis NCIT:C66804 MONDO:equivalentTo Ganglioneuromatosis MONDO:0005033 -MONDO:0857837 ciliary body benign medulloepithelioma NCIT:C66807 MONDO:equivalentTo Ciliary Body Benign Medulloepithelioma MONDO:0021486|MONDO:0017050 -MONDO:0857838 ciliary body teratoid medulloepithelioma NCIT:C66810 MONDO:equivalentTo Ciliary Body Teratoid Medulloepithelioma MONDO:0017050 -MONDO:0857839 retinocytoma NCIT:C66812 MONDO:equivalentTo Retinocytoma MONDO:0021453|MONDO:0024341 -MONDO:0857840 differentiated retinoblastoma NCIT:C66813 MONDO:equivalentTo Differentiated Retinoblastoma MONDO:0008380 -MONDO:0857841 undifferentiated retinoblastoma NCIT:C66814 MONDO:equivalentTo Undifferentiated Retinoblastoma MONDO:0008380 -MONDO:0857842 diffuse retinoblastoma NCIT:C66815 MONDO:equivalentTo Diffuse Retinoblastoma MONDO:0008380 -MONDO:0857844 melanotic neurofibroma NCIT:C66841 MONDO:equivalentTo Melanotic Neurofibroma MONDO:0016755 -MONDO:0857846 testicular mixed sex cord-stromal tumor NCIT:C66991 MONDO:equivalentTo Testicular Mixed Sex Cord-Stromal Tumor MONDO:0003125 -MONDO:0857847 pyriform fossa carcinoma NCIT:C6700 MONDO:equivalentTo Pyriform Fossa Carcinoma MONDO:0005216 -MONDO:0857848 ovarian serous adenocarcinofibroma NCIT:C67092 MONDO:equivalentTo Ovarian Serous Adenocarcinofibroma MONDO:0024885|MONDO:0002991 -MONDO:0857849 sternal chondromyxoid fibroma NCIT:C6714 MONDO:equivalentTo Sternal Chondromyxoid Fibroma MONDO:0021456|MONDO:0018447 -MONDO:0857850 olfactory neurogenic tumor NCIT:C67155 MONDO:equivalentTo Olfactory Neurogenic Tumor MONDO:0002722 -MONDO:0857852 nodular sclerosis classic hodgkin lymphoma, cellular phase NCIT:C67171 MONDO:equivalentTo Nodular Sclerosis Classic Hodgkin Lymphoma, Cellular Phase MONDO:0004665 -MONDO:0857853 sternal intraosseous schwannoma NCIT:C6718 MONDO:equivalentTo Sternal Intraosseous Schwannoma MONDO:0021456|MONDO:0004820 -MONDO:0857854 peripheral primitive neuroectodermal tumor of the kidney NCIT:C67214 MONDO:equivalentTo Peripheral Primitive Neuroectodermal Tumor of the Kidney MONDO:0018271|MONDO:0002367 -MONDO:0857855 chest wall hodgkin lymphoma NCIT:C6723 MONDO:equivalentTo Chest Wall Hodgkin Lymphoma MONDO:0004952|MONDO:0003985 -MONDO:0857858 benign glomus tumor NCIT:C6748 MONDO:equivalentTo Benign Glomus Tumor MONDO:0003342|MONDO:0018327 -MONDO:0857859 malignant sex cord-stromal tumor NCIT:C67561 MONDO:equivalentTo Malignant Sex Cord-Stromal Tumor MONDO:0006055|MONDO:0002149 -MONDO:0857860 myxoid leiomyoma NCIT:C67563 MONDO:equivalentTo Myxoid Leiomyoma MONDO:0001572 -MONDO:0857862 stromal neoplasm NCIT:C6781 MONDO:equivalentTo Stromal Neoplasm MONDO:0002616|MONDO:0006424 -MONDO:0857864 benign apocrine neoplasm NCIT:C6799 MONDO:equivalentTo Benign Apocrine Neoplasm MONDO:0003686|MONDO:0021489 -MONDO:0857866 benign external ear neoplasm NCIT:C6807 MONDO:equivalentTo Benign External Ear Neoplasm MONDO:0021474|MONDO:0021235 -MONDO:0857867 prostate ductal adenocarcinoma NCIT:C6813 MONDO:equivalentTo Prostate Ductal Adenocarcinoma MONDO:0005082 -MONDO:0857872 kadish stage a olfactory neuroblastoma NCIT:C6853 MONDO:equivalentTo Kadish Stage A Olfactory Neuroblastoma MONDO:0006329 -MONDO:0857873 kadish stage b olfactory neuroblastoma NCIT:C6854 MONDO:equivalentTo Kadish Stage B Olfactory Neuroblastoma MONDO:0006329 -MONDO:0857874 oropharyngeal undifferentiated carcinoma NCIT:C68610 MONDO:equivalentTo Oropharyngeal Undifferentiated Carcinoma MONDO:0044704|MONDO:0003572 -MONDO:0857876 childhood extracranial germ cell tumor NCIT:C68627 MONDO:equivalentTo Childhood Extracranial Germ Cell Tumor MONDO:0003751 -MONDO:0857879 childhood extragonadal malignant germ cell tumor NCIT:C68632 MONDO:equivalentTo Childhood Extragonadal Malignant Germ Cell Tumor MONDO:0003113|MONDO:0004479 -MONDO:0857881 adrenal cortical low grade carcinoma NCIT:C68635 MONDO:equivalentTo Adrenal Cortical Low Grade Carcinoma MONDO:0006639 -MONDO:0857882 adrenal cortical sarcomatoid carcinoma NCIT:C68644 MONDO:equivalentTo Adrenal Cortical Sarcomatoid Carcinoma MONDO:0006639|MONDO:0006406 +MONDO:0857211 posterior tongue neoplasm NCIT:C4400 MONDO:equivalentTo Posterior Tongue Neoplasm A benign or malignant neoplasm that affects the base of the tongue. MONDO:0021240 +MONDO:0857212 pyriform fossa neoplasm NCIT:C4424 MONDO:equivalentTo Pyriform Fossa Neoplasm A benign or malignant neoplasm that affects the pyriform sinus. MONDO:0021358 +MONDO:0857213 gastric pylorus carcinoma in situ ajcc v6 and v7 NCIT:C4431 MONDO:equivalentTo Gastric Pylorus Carcinoma In Situ AJCC v6 and v7 Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0003971|MONDO:0004716 +MONDO:0857215 lung epithelioid hemangioendothelioma NCIT:C4453 MONDO:equivalentTo Lung Epithelioid Hemangioendothelioma A low-grade malignant blood vessel neoplasm arising from the lung. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. MONDO:0008903|MONDO:0015523 +MONDO:0857216 dermal duct tumor NCIT:C4473 MONDO:equivalentTo Dermal Duct Tumor A poroma characterized by the presence of small nodules of neoplastic cells in the superficial dermis without connection to the epidermis. MONDO:0006738 +MONDO:0857217 cutaneous neural neoplasm NCIT:C4479 MONDO:equivalentTo Cutaneous Neural Neoplasm A peripheral nervous system neoplasm that arises from the dermis. MONDO:0001406|MONDO:0002300 +MONDO:0857219 malignant skin hemangiopericytoma NCIT:C4493 MONDO:equivalentTo Malignant Skin Hemangiopericytoma A malignant hemangiopericytoma arising in the skin. MONDO:0021424|MONDO:0009330 +MONDO:0857220 cockade nevus NCIT:C4495 MONDO:equivalentTo Cockade Nevus A rare speckled nevus with concentric pattern of pigmentation and central papule surrounded by clear zone. MONDO:0044794 +MONDO:0857222 common blue nevus NCIT:C4496 MONDO:equivalentTo Common Blue Nevus A blue nevus that is not associated with increased cellularity. MONDO:0006680 +MONDO:0857223 nevus spilus NCIT:C4498 MONDO:equivalentTo Nevus Spilus A melanocytic nevus that contains a variable number of darkly pigmented macules and papules. MONDO:0044792 +MONDO:0857224 benign ovarian epithelial tumor NCIT:C4510 MONDO:equivalentTo Benign Ovarian Epithelial Tumor A neoplasm that arises from the surface epithelium of the ovary and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor. MONDO:0002229|MONDO:0000646|MONDO:0036976 +MONDO:0857229 classical low grade fibromyxoid sarcoma NCIT:C45210 MONDO:equivalentTo Classical Low Grade Fibromyxoid Sarcoma A low grade fibromyxoid sarcoma that may have poorly formed collagen rosettes, but lacks prominent, well formed collagen rosettes. MONDO:0006272 +MONDO:0857233 cutaneous hematopoietic and lymphoid cell neoplasm NCIT:C45240 MONDO:equivalentTo Cutaneous Hematopoietic and Lymphoid Cell Neoplasm A neoplasm of hematopoietic and lymphoid cell origin that affects the skin. MONDO:0002531|MONDO:0044881 +MONDO:0857240 lacrimal gland pleomorphic adenoma NCIT:C4542 MONDO:equivalentTo Lacrimal Gland Pleomorphic Adenoma A benign, usually encapsulated neoplasm of the lacrimal gland composed of epithelial and mesenchymal cells. Pleomorphic adenomas are neoplasms that develop in the salivary glands or heterotopic salivary gland tissues. It has been suggested that myoepithelial cells play a major role in the histogenesis of these tumors. In the lacrimal gland, pleomorphic adenomas presumably develop from metaplastic myoepithelial cells. MONDO:0008401|MONDO:0021488 +MONDO:0857244 orbit capillary hemangioma NCIT:C4545 MONDO:equivalentTo Orbit Capillary Hemangioma A capillary hemangioma arising from the orbit. MONDO:0001974|MONDO:0002407 +MONDO:0857245 orbit hemangiopericytoma NCIT:C4547 MONDO:equivalentTo Orbit Hemangiopericytoma A benign or malignant hemangiopericytoma arising from the orbit. MONDO:0005094 +MONDO:0857247 lymphangioma circumscriptum NCIT:C45485 MONDO:equivalentTo Lymphangioma Circumscriptum A localized lymphangioma characterized by microcystic changes. MONDO:0002013 +MONDO:0857248 lung squamous cell carcinoma, papillary variant NCIT:C45502 MONDO:equivalentTo Lung Squamous Cell Carcinoma, Papillary Variant A morphologic variant of squamous cell lung carcinoma characterized by the presence of papillary structures. MONDO:0005056|MONDO:0002979|MONDO:0056806 +MONDO:0857249 lung squamous cell carcinoma, clear cell variant NCIT:C45503 MONDO:equivalentTo Lung Squamous Cell Carcinoma, Clear Cell Variant A morphologic variant of squamous cell lung carcinoma characterized by the presence of clear cells. MONDO:0005056|MONDO:0056806 +MONDO:0857250 lung squamous cell carcinoma, small cell variant NCIT:C45504 MONDO:equivalentTo Lung Squamous Cell Carcinoma, Small Cell Variant A poorly differentiated morphologic variant of squamous cell lung carcinoma characterized by the presence of small tumor cells with focal squamous differentiation. MONDO:0005056|MONDO:0005097 +MONDO:0857251 lung basaloid squamous cell carcinoma NCIT:C45507 MONDO:equivalentTo Lung Basaloid Squamous Cell Carcinoma A morphologic variant of squamous cell lung carcinoma characterized by nuclear palisading. MONDO:0003486|MONDO:0005097|MONDO:0005056 +MONDO:0857252 lung spindle cell carcinoma NCIT:C45541 MONDO:equivalentTo Lung Spindle Cell Carcinoma A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant spindle cells and focal lymphoplasmacytic infiltrates. Adenocarcinoma cells, malignant squamous cells, and giant cells are not present. MONDO:0006279 +MONDO:0857253 lung pleomorphic carcinoma NCIT:C45542 MONDO:equivalentTo Lung Pleomorphic Carcinoma A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells. MONDO:0006279|MONDO:0003573 +MONDO:0857254 lung carcinosarcoma NCIT:C45543 MONDO:equivalentTo Lung Carcinosarcoma A morphologic variant of lung sarcomatoid carcinoma composed of a mixture of non-small cell lung carcinoma and a sarcomatous component. MONDO:0006279|MONDO:0002928 +MONDO:0857256 lung neuroendocrine tumor g2 NCIT:C45551 MONDO:equivalentTo Lung Neuroendocrine Tumor G2 A neuroendocrine tumor of the lung showing focal necrotic changes or a number of mitotic figures between 2 and 10/10 high power fields. MONDO:0006041|MONDO:0006095 +MONDO:0857259 ciliary body malignant medulloepithelioma NCIT:C4557 MONDO:equivalentTo Ciliary Body Malignant Medulloepithelioma A rare, unilateral, malignant embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium. MONDO:0002969|MONDO:0017050 +MONDO:0857260 lung squamous papilloma NCIT:C45573 MONDO:equivalentTo Lung Squamous Papilloma A papillary neoplasm that arises endobronchially. It is characterized by the presence of a delicate fibrovascular core lined by stratified squamous epithelium. Squamous cell papillomas can be solitary or multiple. Patients usually present with signs and symptoms of bronchial obstruction. Because of the possibility of recurrence and reported cases of squamous cell carcinomas arising at the excision site of squamous cell papillomas, complete excision is indicated. MONDO:0006278|MONDO:0001825 +MONDO:0857262 bronchial glandular papilloma NCIT:C45601 MONDO:equivalentTo Bronchial Glandular Papilloma A benign papillary neoplasm that arises endobronchially. It is characterized by the presence of fibrovascular cores lined by columnar, cuboidal, and goblet cells. Patients usually present with signs and symptoms of bronchial obstruction. Complete resection is curative. MONDO:0006278|MONDO:0021078 +MONDO:0857263 bronchial mixed squamous cell and glandular papilloma NCIT:C45602 MONDO:equivalentTo Bronchial Mixed Squamous Cell and Glandular Papilloma An exceedingly rare benign endobronchial neoplasm characterized by the presence of fibrovascular cores which are lined by both squamous and glandular epithelium. Patients present with obstructive symptoms. Complete resection is curative. MONDO:0021043|MONDO:0006278 +MONDO:0857264 lung pleomorphic adenoma NCIT:C45603 MONDO:equivalentTo Lung Pleomorphic Adenoma A very rare, well circumscribed, benign epithelial neoplasm that arises from the bronchus. It is characterized by the presence of epithelial cells, myoepithelial cells, and fibromyxoid stroma. MONDO:0008401|MONDO:0003422 +MONDO:0857265 lung mucinous cystadenoma NCIT:C45604 MONDO:equivalentTo Lung Mucinous Cystadenoma A very rare, well circumscribed, benign cystic neoplasm that arises from the lung. It is characterized by the presence of cysts which are lined by tall mucinous epithelium and filled with mucin. MONDO:0003422|MONDO:0006859 +MONDO:0857267 lung soft tissue neoplasm NCIT:C45612 MONDO:equivalentTo Lung Soft Tissue Neoplasm A benign, intermediate, or malignant mesenchymal neoplasm that arises from the lung. MONDO:0006424|MONDO:0021117 +MONDO:0857268 malignant lung and pleural neoplasm NCIT:C45625 MONDO:equivalentTo Malignant Lung and Pleural Neoplasm A primary or metastatic malignant neoplasm that affects the lung and pleura. MONDO:0003274 +MONDO:0857270 lung synovial sarcoma NCIT:C45631 MONDO:equivalentTo Lung Synovial Sarcoma A synovial sarcoma arising from the lungs. MONDO:0002426|MONDO:0010434 +MONDO:0857273 intrapulmonary thymoma NCIT:C45638 MONDO:equivalentTo Intrapulmonary Thymoma An epithelial neoplasm that arises from ectopic thymic tissue in the lung. Histologically it is identical to the thymomas that arise from the mediastinum. Signs and symptoms include cough, dyspnea, fever, and weight loss. Surgical excision is the recommended treatment. MONDO:0006456|MONDO:0021117 +MONDO:0857274 mediastinal thymoma NCIT:C45639 MONDO:equivalentTo Mediastinal Thymoma An invasive or non-invasive thymoma that arises from the mediastinum. Thymomas are the most common anterior mediastinal tumors. MONDO:0006456|MONDO:0021386 +MONDO:0857275 lung melanoma NCIT:C45652 MONDO:equivalentTo Lung Melanoma A rare malignant neoplasm that derives from melanocytes and arises from the lung in a patient with no history of previous melanoma and no evidence of melanoma in another site at the time of diagnosis. It usually presents as a solitary lesion and the prognosis is poor. MONDO:0006320|MONDO:0008903 +MONDO:0857276 pleural well differentiated papillary mesothelial tumor NCIT:C45660 MONDO:equivalentTo Pleural Well Differentiated Papillary Mesothelial Tumor A rare, non-invasive, localized or multifocal mesothelial neoplasm that arises from the pleura. It is characterized by the presence of papillae with myxoid fibrovascular cores, lined by a single layer of mesothelial cells. The clinical course is usually indolent. MONDO:0003308|MONDO:0003688 +MONDO:0857278 pleural lymphoma NCIT:C45687 MONDO:equivalentTo Pleural Lymphoma A rare extranodal lymphoma that arises from the pleura with no evidence of involvement of other sites at the time of diagnosis. This category includes primary effusion lymphoma and pyothorax-associated lymphoma. MONDO:0017207|MONDO:0006294 +MONDO:0857279 pleural epithelioid hemangioendothelioma NCIT:C45695 MONDO:equivalentTo Pleural Epithelioid Hemangioendothelioma A low-grade malignant blood vessel neoplasm arising from the pleura. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. MONDO:0015523|MONDO:0006294 +MONDO:0857280 pleural synovial sarcoma NCIT:C45696 MONDO:equivalentTo Pleural Synovial Sarcoma A synovial sarcoma arising in the pleural cavity. MONDO:0006294|MONDO:0010434 +MONDO:0857282 micronodular thymoma with lymphoid stroma NCIT:C45706 MONDO:equivalentTo Micronodular Thymoma with Lymphoid Stroma A rare type of thymoma characterized by the presence of multiple, well formed epithelial nodules separated by a lymphocytic stroma that usually contains germinal centers. Reported cases have not been associated with recurrences or metastases. MONDO:0006456 +MONDO:0857283 metaplastic thymoma NCIT:C45707 MONDO:equivalentTo Metaplastic Thymoma A rare type of well circumscribed or encapsulated thymoma with a biphasic architecture, consisting of epithelial cell islands and bundles of spindle cells. The vast majority of reported cases had a benign clinical course. MONDO:0006456 +MONDO:0857284 microscopic thymoma NCIT:C45708 MONDO:equivalentTo Microscopic Thymoma A rare type of thymoma, composed of multifocal epithelial proliferations less than 1 mm in diameter. This type of thymoma usually occurs in myasthenia gravis patients without any macroscopic (gross) evidence of tumor. MONDO:0006456 +MONDO:0857285 sclerosing thymoma NCIT:C45709 MONDO:equivalentTo Sclerosing Thymoma A rare type of thymoma, characterized by an exuberant amount of collagen-rich stroma. MONDO:0006456 +MONDO:0857286 malignant respiratory system neoplasm NCIT:C4571 MONDO:equivalentTo Malignant Respiratory System Neoplasm A primary or metastatic malignant neoplasm that affects the lung parenchyma, bronchial tree, or trachea. Representative examples include lung carcinoma, carcinoid tumor, lung lymphoma, lung sarcoma, and tracheal carcinoma. MONDO:0020641|MONDO:0004992 +MONDO:0857287 thymus lipofibroadenoma NCIT:C45710 MONDO:equivalentTo Thymus Lipofibroadenoma A benign thymic tumor morphologically resembling fibroadenoma of the breast. MONDO:0021512 +MONDO:0857289 combined thymic epithelial neoplasm NCIT:C45722 MONDO:equivalentTo Combined Thymic Epithelial Neoplasm A primary thymic epithelial neoplasm, characterized by the presence of at least two distinct areas, one representing a thymoma and the other a carcinoma. The most aggressive component usually determines the clinical outcome. MONDO:0018079|MONDO:0002586 +MONDO:0857290 malignant skin appendage neoplasm NCIT:C4573 MONDO:equivalentTo Malignant Skin Appendage Neoplasm A malignant neoplasm that arises from the skin appendages. MONDO:0002898|MONDO:0002297 +MONDO:0857291 mediastinal germ cell tumor with somatic-type malignancy NCIT:C45732 MONDO:equivalentTo Mediastinal Germ Cell Tumor with Somatic-Type Malignancy A rare extragonadal germ cell tumor that arises from the mediastinum and is associated with the presence of a somatic-type malignant component. The somatic malignancy is usually a sarcoma (e.g., embryonal rhabdomyosarcoma, angiosarcoma, or leiomyosarcoma), adenocarcinoma, squamous cell carcinoma, adenosquamous carcinoma, or primitive neuroectodermal tumor. The prognosis is poor. MONDO:0006298 +MONDO:0857292 mediastinal t lymphoblastic leukemia/lymphoma NCIT:C45738 MONDO:equivalentTo Mediastinal T Lymphoblastic Leukemia/Lymphoma A precursor T-cell lymphoid neoplasm composed of small to medium-sized lymphoblasts that affects the mediastinum. MONDO:0003537|MONDO:0005843 +MONDO:0857294 mediastinal myeloid sarcoma NCIT:C45741 MONDO:equivalentTo Mediastinal Myeloid Sarcoma A mass-forming malignant neoplasm that arises from the mediastinum and is characterized by the proliferation of myeloblasts or immature myeloid cells. It may present in association with or precede acute myeloid leukemia, or it may be the first manifestation of relapse of acute myeloid leukemia. MONDO:0005843|MONDO:0006861 +MONDO:0857295 mediastinal paraganglioma NCIT:C45743 MONDO:equivalentTo Mediastinal Paraganglioma An extra-adrenal parasympathetic paraganglioma that arises from paraganglia in the mediastinum. Clinical signs and symptoms include chest pain, cough, hoarseness, and dysphagia. MONDO:0003098|MONDO:0021052 +MONDO:0857296 mediastinal solitary fibrous tumor NCIT:C45744 MONDO:equivalentTo Mediastinal Solitary Fibrous Tumor A localized neoplasm of probable fibroblastic derivation, that arises from the mediastinum. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. MONDO:0016238|MONDO:0003512 +MONDO:0857297 adult cardiac cellular rhabdomyoma NCIT:C45747 MONDO:equivalentTo Adult Cardiac Cellular Rhabdomyoma A rare cardiac rhabdomyoma occurring in adults. It is characterized by the presence of neoplastic striated muscle cells with eosinophilic granular cytoplasm and increased cellularity. MONDO:0006123 +MONDO:0857298 cardiac hemangioma NCIT:C45749 MONDO:equivalentTo Cardiac Hemangioma A hemangioma arising from the heart. MONDO:0021450|MONDO:0006500 +MONDO:0857300 cardiac inflammatory myofibroblastic tumor NCIT:C45753 MONDO:equivalentTo Cardiac Inflammatory Myofibroblastic Tumor An intermediate fibroblastic neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. MONDO:0015798|MONDO:0021209 +MONDO:0857301 cystic tumor of the atrioventricular node NCIT:C45754 MONDO:equivalentTo Cystic Tumor of the Atrioventricular Node A multicystic tumor arising in the inferior interatrial septum in the region of the atrioventricular node. The vast majority of patients present with complete heart block and a minority with partial heart block. Sudden death is reported in approximately 10% of the cases. It is a morphologically benign tumor composed of cuboidal, transitional, or squamoid cells. The cells may also show sebaceous differentiation and originate from the endoderm. MONDO:0021450 +MONDO:0857302 cardiac undifferentiated pleomorphic sarcoma NCIT:C45755 MONDO:equivalentTo Cardiac Undifferentiated Pleomorphic Sarcoma An undifferentiated pleomorphic sarcoma usually arising from the left atrium of the heart. It is characterized by the presence of fibrohistiocytic cells, giant cells, and spindle cells arrranged iin a storiform pattern. Clinical presentation includes signs and symptoms associated with left atrial hemodynamic changes. MONDO:0003354|MONDO:0002142 +MONDO:0857303 cardiac synovial sarcoma NCIT:C45756 MONDO:equivalentTo Cardiac Synovial Sarcoma A synovial sarcoma arising from the heart. MONDO:0003354|MONDO:0010434 +MONDO:0857305 cardiac rhabdomyosarcoma NCIT:C45759 MONDO:equivalentTo Cardiac Rhabdomyosarcoma A rare malignant mesenchymal tumor with skeletal muscle differentiation arising within the myocardium. It is characterized by the presence of small round spindle cells. Most cardiac rhabodomyosarcomas are of embryonal type and usually present in children and young adults. MONDO:0003354|MONDO:0005212 +MONDO:0857306 pericardial germ cell tumor NCIT:C45761 MONDO:equivalentTo Pericardial Germ Cell Tumor A rare benign or malignant germ cell tumor that arises from the pericardium. The reported cases have been teratomas and yolk sac tumors. MONDO:0021381|MONDO:0018201 +MONDO:0857308 corneal kaposi sarcoma NCIT:C4579 MONDO:equivalentTo Corneal Kaposi Sarcoma A Kaposi sarcoma arising from the cornea. MONDO:0005055|MONDO:0003802 +MONDO:0857310 metastatic malignant neoplasm in the bone marrow NCIT:C4582 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Bone Marrow The spread of a malignant neoplasm from its original site of growth to the bone marrow. MONDO:0024880|MONDO:0021138 +MONDO:0857311 pancreatic neuroendocrine microtumor NCIT:C45834 MONDO:equivalentTo Pancreatic Neuroendocrine Microtumor A non-functioning pancreatic neuroendocrine tumor measuring less than 0.5 cm in diameter. MONDO:0004334 +MONDO:0857315 sellar gangliocytoma NCIT:C45917 MONDO:equivalentTo Sellar Gangliocytoma A tumor that arises in the sellar region and is characterized by the presence of mature ganglion cells and neuronal differentiation. It is often associated with the presence of pituitary neuroendocrine tumors/adenomas. MONDO:0016730|MONDO:0002720 +MONDO:0857316 hypothalamic gangliocytoma NCIT:C45918 MONDO:equivalentTo Hypothalamic Gangliocytoma A tumor characterized by the presence of mature ganglion cells and neuronal differentiation, arising in the hypothalamus. It is often associated with the presence of pituitary gland adenomas. Symptoms include acromegaly and precocious puberty. MONDO:0016730|MONDO:0006799 +MONDO:0857317 anterior pituitary gland neoplasm NCIT:C45921 MONDO:equivalentTo Anterior Pituitary Gland Neoplasm A neoplasm arising from the anterior lobe of the pituitary gland. The vast majority are pituitary neuroendocrine tumors (formerly pituitary adenomas). MONDO:0017611 +MONDO:0857319 densely granulated somatotroph pituitary neuroendocrine tumor NCIT:C45925 MONDO:equivalentTo Densely Granulated Somatotroph Pituitary Neuroendocrine Tumor A growth hormone-producing pituitary neuroendocrine tumor composed of medium-sized acidophilic cells with granular cytoplasm and abundant secretory granules. MONDO:0006238 +MONDO:0857320 sparsely granulated somatotroph pituitary neuroendocrine tumor NCIT:C45926 MONDO:equivalentTo Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor A growth hormone-producing pituitary neuroendocrine tumor composed of small, round cells containing fibrous bodies and scarce, small secretory granules. MONDO:0006238 +MONDO:0857321 densely granulated lactotroph pituitary neuroendocrine tumor NCIT:C45931 MONDO:equivalentTo Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor A rare prolactin-producing pituitary neuroendocrine tumor composed of acidophilic cells with many large secretory granules. The endoplasmic reticulum is not as abundant as in the sparsely granulated subtype. MONDO:0010911 +MONDO:0857322 sparsely granulated lactotroph pituitary neuroendocrine tumor NCIT:C45932 MONDO:equivalentTo Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor A prolactin-producing pituitary neuroendocrine tumor composed of relatively large, chromophobic or slightly acidophilic cells with well developed, abundant endoplasmic reticulum, and many immature secretory granules. Mature secretory granules are sparse. MONDO:0010911 +MONDO:0857324 benign palate neoplasm NCIT:C4599 MONDO:equivalentTo Benign Palate Neoplasm A non-metastasizing neoplasm that arises from the hard palate, soft palate, or uvula. MONDO:0005286 +MONDO:0857325 thyroid gland oncocytic neoplasm NCIT:C46068 MONDO:equivalentTo Thyroid Gland Oncocytic Neoplasm An adenoma or carcinoma arising from the follicular cells of the thyroid gland. It is composed of large oncocytic cells with abundant granular eosinophilic cytoplasm. MONDO:0015074|MONDO:0010795 +MONDO:0857326 unilateral breast carcinoma NCIT:C46073 MONDO:equivalentTo Unilateral Breast Carcinoma Breast carcinoma of one breast, or one side of the breast. MONDO:0004989 +MONDO:0857327 nonestrogen-dependent malignant neoplasm NCIT:C46080 MONDO:equivalentTo Nonestrogen-Dependent Malignant Neoplasm Cancer that is not dependent upon the presence of estrogen for metastasis or growth. 2005 MONDO:0004992 +MONDO:0857330 macrofollicular variant thyroid gland papillary carcinoma NCIT:C46092 MONDO:equivalentTo Macrofollicular Variant Thyroid Gland Papillary Carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the predominance or the exclusive presence of macrofollicles. Some of the malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland. MONDO:0005075 +MONDO:0857331 clear cell variant thyroid gland papillary carcinoma NCIT:C46094 MONDO:equivalentTo Clear Cell Variant Thyroid Gland Papillary Carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the predominance of malignant follicular clear cells. These cells have the nuclear features that characterize the papillary carcinomas of the thyroid gland. MONDO:0005075|MONDO:0005004 +MONDO:0857333 thyroid gland follicular carcinoma, clear cell variant NCIT:C46096 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Clear Cell Variant A morphologic variant of follicular carcinoma of the thyroid gland characterized by the predominance of malignant follicular clear cells. These cells lack the nuclear features that characterize the papillary carcinomas of the thyroid gland. MONDO:0005034|MONDO:0005004 +MONDO:0857334 sporadic thyroid gland medullary carcinoma NCIT:C46098 MONDO:equivalentTo Sporadic Thyroid Gland Medullary Carcinoma A non-hereditary medullary carcinoma of the thyroid gland not associated with multiple endocrine neoplasia. The majority of thyroid gland medullary carcinomas are sporadic. MONDO:0015277 +MONDO:0857336 thyroid gland mixed medullary and follicular cell-derived carcinoma NCIT:C46104 MONDO:equivalentTo Thyroid Gland Mixed Medullary and Follicular Cell-Derived Carcinoma A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. MONDO:0015075|MONDO:0021069 +MONDO:0857337 intrathyroid thymic carcinoma NCIT:C46106 MONDO:equivalentTo Intrathyroid Thymic Carcinoma A rare primary carcinoma of the thyroid gland, composed of groups of carcinoma cells with thymic epithelial differentiation. MONDO:0015075 +MONDO:0857338 thyroid gland follicular adenoma with papillary hyperplasia NCIT:C46111 MONDO:equivalentTo Thyroid Gland Follicular Adenoma with Papillary Hyperplasia A thyroid gland adenoma characterized by the presence of papillae lined by cells that range from cuboidal to columnar. The papillae are usually cystic and non-branching. Aggregates of follicles may be found within the papillary structures. MONDO:0002533|MONDO:0005032 +MONDO:0857339 thyroid gland signet ring cell follicular adenoma NCIT:C46115 MONDO:equivalentTo Thyroid Gland Signet Ring Cell Follicular Adenoma A thyroid gland adenoma characterized by the presence of signet ring cells that stain positive for thyroglobulin. MONDO:0005032 +MONDO:0857340 thyroid gland mucinous follicular adenoma NCIT:C46116 MONDO:equivalentTo Thyroid Gland Mucinous Follicular Adenoma A thyroid gland adenoma composed of follicles and characterized by the presence of abundant extracellular mucin. MONDO:0005032 +MONDO:0857341 thyroid gland lipoadenoma NCIT:C46118 MONDO:equivalentTo Thyroid Gland Lipoadenoma A thyroid gland adenoma composed of follicular structures and mature adipocytes. MONDO:0003431|MONDO:0005032 +MONDO:0857342 thyroid gland clear cell follicular adenoma NCIT:C46119 MONDO:equivalentTo Thyroid Gland Clear Cell Follicular Adenoma A thyroid gland adenoma composed of follicular cells with cytoplasmic clearing. MONDO:0003426|MONDO:0005032 +MONDO:0857343 thyroid gland hyperfunctioning adenoma NCIT:C46122 MONDO:equivalentTo Thyroid Gland Hyperfunctioning Adenoma A thyroid gland adenoma producing thyroxin. It is associated with hyperthyroidism. Radioactive iodine scan reveals a hot nodule. MONDO:0005032 +MONDO:0857345 thyroid gland paraganglioma NCIT:C46125 MONDO:equivalentTo Thyroid Gland Paraganglioma A rare, circumscribed or encapsulated neuroendocrine tumor arising from the thyroid gland. Microscopically, it is characterized by the presence of tumor cells arranged in a nesting (Zellballen) growth pattern. The reported cases have followed a benign clinical course. MONDO:0006239|MONDO:0015074 +MONDO:0857346 benign skin appendage neoplasm NCIT:C4615 MONDO:equivalentTo Benign Skin Appendage Neoplasm A neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma. MONDO:0021440|MONDO:0002297 +MONDO:0857349 pineal region germ cell tumor NCIT:C4659 MONDO:equivalentTo Pineal Region Germ Cell Tumor A germ cell tumor that arises in the pineal region. Representative examples include teratoma, germinoma, and choriocarcinoma. MONDO:0021232|MONDO:0003000 +MONDO:0857356 adenocarcinoma with metaplasia NCIT:C4712 MONDO:equivalentTo Adenocarcinoma with Metaplasia An adenocarcinoma characterized by the presence of metaplasia. MONDO:0004970 +MONDO:0857357 atypical meningioma NCIT:C4723 MONDO:equivalentTo Atypical Meningioma A WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis. MONDO:0045056 +MONDO:0857358 neoplasm by morphology NCIT:C4741 MONDO:equivalentTo Neoplasm by Morphology A classification system grouping neoplasms according to their cellular characteristics. MONDO:0005070 +MONDO:0857359 benign squamous cell neoplasm NCIT:C4742 MONDO:equivalentTo Benign Squamous Cell Neoplasm A non-metastasizing neoplasm composed of squamous cells. The neoplastic cells do not display malignant features. MONDO:0036976|MONDO:0002532 +MONDO:0857360 skin cavernous hemangioma NCIT:C4750 MONDO:equivalentTo Skin Cavernous Hemangioma A cavernous hemangioma arising from the skin. MONDO:0003110|MONDO:0003155 +MONDO:0857361 malignant olfactory nerve neoplasm NCIT:C4768 MONDO:equivalentTo Malignant Olfactory Nerve Neoplasm A primary or metastatic malignant neoplasm affecting the olfactory nerve. MONDO:0002722|MONDO:0002433 +MONDO:0857362 benign extrahepatic bile duct neoplasm NCIT:C4776 MONDO:equivalentTo Benign Extrahepatic Bile Duct Neoplasm A neoplasm that arises from the extrahepatic bile ducts and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021385|MONDO:0000385 +MONDO:0857363 breast carcinoma with chondroid metaplasia NCIT:C47847 MONDO:equivalentTo Breast Carcinoma with Chondroid Metaplasia An invasive carcinoma of the breast showing differentiation towards cartilaginous structures. MONDO:0004274 +MONDO:0857364 breast carcinoma with osseous metaplasia NCIT:C47848 MONDO:equivalentTo Breast Carcinoma with Osseous Metaplasia An invasive breast carcinoma showing differentiation towards bone structures. MONDO:0004274 +MONDO:0857365 breast paget disease without invasive carcinoma NCIT:C47858 MONDO:equivalentTo Breast Paget Disease without Invasive Carcinoma Paget disease involving the skin overlying the mammary gland, without accompanying invasive ductal or lobular breast carcinoma. MONDO:0002648 +MONDO:0857366 breast hyperplasia NCIT:C4804 MONDO:equivalentTo Breast Hyperplasia A general term that refers to hyperplastic proliferations of the epithelial cells in the breast parenchyma. Examples include atypical ductal hyperplasia, usual ductal hyperplasia, columnar cell hyperplasia, and atypical lobular hyperplasia. MONDO:0005043|MONDO:0021100 +MONDO:0857367 malignant odontogenic neoplasm NCIT:C4812 MONDO:equivalentTo Malignant Odontogenic Neoplasm A rare neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Symptoms include swelling, pain, bleeding, mobility of affected teeth, and oral mucosa ulcerations. It may metastasize to lymph nodes and distant anatomic sites early. MONDO:0021192|MONDO:0005515 +MONDO:0857369 tongue carcinoma NCIT:C4824 MONDO:equivalentTo Tongue Carcinoma A malignant tumor arising from the epithelium that covers the tongue. The vast majority of tongue carcinomas are moderately or poorly differentiated squamous cell carcinomas. MONDO:0044925|MONDO:0004631 +MONDO:0857370 parathyroid gland lipoadenoma NCIT:C48283 MONDO:equivalentTo Parathyroid Gland Lipoadenoma A parathyroid gland adenoma that contains mature adipocytes. MONDO:0003431|MONDO:0006890 +MONDO:0857371 atypical parathyroid gland tumor NCIT:C48285 MONDO:equivalentTo Atypical Parathyroid Gland Tumor A parathyroid gland tumor that shares certain morphologic characteristics with parathyroid gland carcinomas (e.g. broad fibrous bands formation with or without hemosiderin deposition, presence of mitotic figures) but lacks unequivocal evidence of capsular or vascular invasion. It is considered a tumor of uncertain malignant potential. (WHO) MONDO:0021360 +MONDO:0857375 non-metastatic paraganglioma NCIT:C48314 MONDO:equivalentTo Non-Metastatic Paraganglioma A paraganglioma that is confined to the site of origin. MONDO:0000448 +MONDO:0857376 nasopharyngeal paraganglioma NCIT:C48316 MONDO:equivalentTo Nasopharyngeal Paraganglioma An extra-adrenal paraganglioma arising from the nasopharynx and nose. Epistaxis or nasal obstruction are common presenting symptoms. MONDO:0006239|MONDO:0005375 +MONDO:0857377 primary bone osteosarcoma NCIT:C4834 MONDO:equivalentTo Primary Bone Osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It usually involves the long bones and predominantly affects adolescents and young adults. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. MONDO:0002629 +MONDO:0857378 adrenal cortical oncocytic adenoma NCIT:C48447 MONDO:equivalentTo Adrenal Cortical Oncocytic Adenoma A usually non-functioning variant of adrenal cortex adenoma, composed of large cells with abundant granular eosinophilic cytoplasm. MONDO:0003924|MONDO:0003424 +MONDO:0857379 androgen-producing adrenal cortical adenoma NCIT:C48454 MONDO:equivalentTo Androgen-Producing Adrenal Cortical Adenoma A rare adenoma of the adrenal cortex that produces androgens. Female patients usually have symptoms related to virilism. MONDO:0006408 +MONDO:0857380 estrogen-producing adrenal cortical adenoma NCIT:C48456 MONDO:equivalentTo Estrogen-Producing Adrenal Cortical Adenoma A rare adenoma of the adrenal cortex that produces estrogens. Male patients may develop gynecomastia and impotence. MONDO:0006408 +MONDO:0857382 invasive prostate carcinoma NCIT:C48596 MONDO:equivalentTo Invasive Prostate Carcinoma A carcinoma that is not confined to the prostatic epithelium but has spread to the surrounding stroma of the prostate gland. The vast majority of invasive prostate carcinomas are adenocarcinomas. MONDO:0005159|MONDO:0040677 +MONDO:0857383 minimal deviation melanoma NCIT:C48612 MONDO:equivalentTo Minimal Deviation Melanoma A melanocytic neoplasm displaying morphologic features that are intermediate between those of benign nevus and melanoma. It is characterized by a nodular architectural growth resembling a melanoma, and a loss of nevus cell maturation. The melanocytic cells forming the nodular growth are uniform, and they may display a high mitotic rate, but they do not show cytologic atypia. MONDO:0005012 +MONDO:0857384 melanoma arising in congenital melanocytic nevus NCIT:C48613 MONDO:equivalentTo Melanoma Arising in Congenital Melanocytic Nevus A melanoma of the skin arising in a congenital melanocytic nevus. MONDO:0005012 +MONDO:0857385 desmoplastic neurotropic melanoma NCIT:C48614 MONDO:equivalentTo Desmoplastic Neurotropic Melanoma A desmoplastic melanoma characterized by the presence of nerve infiltration by atypical spindled melanocytes. MONDO:0044785 +MONDO:0857386 mucosal lentiginous melanoma NCIT:C48622 MONDO:equivalentTo Mucosal Lentiginous Melanoma An acral lentiginous melanoma affecting mucosal surfaces. MONDO:0000544 +MONDO:0857388 metastatic malignant neoplasm in the trachea NCIT:C4887 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Trachea A malignant neoplasm that has spread to the trachea from another anatomic site. MONDO:0024880|MONDO:0001407 +MONDO:0857389 splenic lymphoma NCIT:C48873 MONDO:equivalentTo Splenic Lymphoma A non-Hodgkin lymphoma or rarely Hodgkin lymphoma that arises from the spleen. MONDO:0017207|MONDO:0005966 +MONDO:0857390 dedifferentiated chordoma NCIT:C48876 MONDO:equivalentTo Dedifferentiated Chordoma A high-grade malignant bone tumor arising from the remnants of the notochord. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells, and a sarcomatous component. MONDO:0008978 +MONDO:0857391 benign lung hilum neoplasm NCIT:C4888 MONDO:equivalentTo Benign Lung Hilum Neoplasm A neoplasm that arises from the hilar region of lung and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0003639|MONDO:0002732 +MONDO:0857393 hiv lipodystrophy NCIT:C48899 MONDO:equivalentTo HIV Lipodystrophy A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the breast and cervical areas, and an accumulation of visceral fat. It is associated with antiretroviral therapy. Clinical presentation includes hyperlipidemia, insulin resistance, and fat atrophy of the face and limbs. MONDO:0006573|MONDO:0006574 +MONDO:0857394 gardner fibroma NCIT:C49017 MONDO:equivalentTo Gardner Fibroma An uncommon, poorly circumscribed, benign neoplasm arising in the soft tissues of infants, children and adolescents. It is characterized by the presence of haphazardly arranged spindle-shaped fibroblasts, collagenous stroma formation, and plaque-like growth pattern. There is a strong genetic component associating the neoplasm with Gardners syndrome and deep fibromatosis/desmoid tumor. MONDO:0005167 +MONDO:0857397 skin fibrous histiocytoma, fibroblastic variant NCIT:C49076 MONDO:equivalentTo Skin Fibrous Histiocytoma, Fibroblastic Variant A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of spindle-shaped fibrohistiocytic cells and associated acanthosis. MONDO:0006717 +MONDO:0857398 skin fibrous histiocytoma, histiocytic variant NCIT:C49077 MONDO:equivalentTo Skin Fibrous Histiocytoma, Histiocytic Variant A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of xanthomatous fibrohistiocytic cells, giant cells, and hemosiderin deposition. MONDO:0006717 +MONDO:0857399 skin fibrous histiocytoma, cellular variant NCIT:C49078 MONDO:equivalentTo Skin Fibrous Histiocytoma, Cellular Variant A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of spindle-shaped fibrohistiocytic cells and increased cellularity. MONDO:0006717 +MONDO:0857400 skin fibrous histiocytoma, epithelioid variant NCIT:C49079 MONDO:equivalentTo Skin Fibrous Histiocytoma, Epithelioid Variant A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of epithelioid fibrohistiocytic cells. MONDO:0006717 +MONDO:0857401 solid angioleiomyoma NCIT:C49110 MONDO:equivalentTo Solid Angioleiomyoma A morphologic variant of angioleiomyoma characterized by the presence of numerous small, slit-like vascular channels. MONDO:0006646 +MONDO:0857402 venous angioleiomyoma NCIT:C49111 MONDO:equivalentTo Venous Angioleiomyoma A morphologic variant of angioleiomyoma characterized by the presence of thick-walled veins. MONDO:0006646 +MONDO:0857403 cavernous angioleiomyoma NCIT:C49115 MONDO:equivalentTo Cavernous Angioleiomyoma A morphologic variant of angioleiomyoma characterized by the presence of markedly dilated vascular channels. MONDO:0006646 +MONDO:0857404 conventional cardiac rhabdomyoma NCIT:C49179 MONDO:equivalentTo Conventional Cardiac Rhabdomyoma A cardiac rhabdomyoma characterized by the presence of neoplastic large striated muscle cells with clear cytoplasm and spider cells. MONDO:0006123 +MONDO:0857405 anaplastic embryonal rhabdomyosarcoma NCIT:C49204 MONDO:equivalentTo Anaplastic Embryonal Rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma. It is characterized by the presence of large hyperchromatic and anaplastic cells. MONDO:0009993 +MONDO:0857407 duodenal adenoma NCIT:C4932 MONDO:equivalentTo Duodenal Adenoma A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. MONDO:0021303|MONDO:0006734 +MONDO:0857409 benign lymphoproliferative disorder NCIT:C4939 MONDO:equivalentTo Benign Lymphoproliferative Disorder A proliferation of lymphocytes without atypia seen in infections, hypersensitivity reactions or autoimmune diseases. +MONDO:0857412 intracranial neoplasm NCIT:C4953 MONDO:equivalentTo Intracranial Neoplasm A benign or malignant neoplasm that arises from or metastasizes to structures within the cranium. This includes meningeal and other tumors that occur in the spaces that surround the brain, and neoplasms of the brain. MONDO:0006130 +MONDO:0857413 leptomeningeal neoplasm NCIT:C4958 MONDO:equivalentTo Leptomeningeal Neoplasm A malignant neoplasm that has spread from its original site to the two innermost layers of tissue that cover the brain and spinal cord. MONDO:0016743 +MONDO:0857415 benign infratentorial neoplasm NCIT:C4965 MONDO:equivalentTo Benign Infratentorial Neoplasm A neoplasm that arises from the infratentorial region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021451|MONDO:0037736 +MONDO:0857417 primary brain stem neoplasm NCIT:C4975 MONDO:equivalentTo Primary Brain Stem Neoplasm A neoplasm that originates from the brain stem. MONDO:0021228|MONDO:0021632 +MONDO:0857419 carcinoma unspecified site NCIT:C4979 MONDO:equivalentTo Carcinoma Unspecified Site Carcinoma in which the site of involvement is not specified. MONDO:0004993 +MONDO:0857430 verrucous lesion NCIT:C5028 MONDO:equivalentTo Verrucous Lesion A papillomavirus related epithelial overgrowth. It can be located anywhere on the body though when it involves the perineal region it is generally referred to as condyloma acuminatum. MONDO:0002532 +MONDO:0857438 primary cerebral diffuse large b-cell lymphoma NCIT:C5054 MONDO:equivalentTo Primary Cerebral Diffuse Large B-Cell Lymphoma A diffuse large B-cell lymphoma that arises in the cerebrum. MONDO:0003655|MONDO:0017596 +MONDO:0857466 renomedullary interstitial cell tumor NCIT:C5100 MONDO:equivalentTo Renomedullary Interstitial Cell Tumor A benign, asymptomatic kidney tumor arising from renomedullary interstitial cells. It is often found incidentally at the time of nephrectomy in adults. These tumors are either single or multiple and usually measure 1-10 mm in diameter. Microscopically the tumor cells are small, stellate, or spindled cells, embedded in a faintly basophilic stroma reminiscent of renal medullary stroma. (WHO 2016) MONDO:0002513 +MONDO:0857469 solid glomus tumor NCIT:C51133 MONDO:equivalentTo Solid Glomus Tumor The most common morphologic variant of glomus tumor. It is characterized by the presence of a nest of glomus cells surrounding capillary sized vessels. MONDO:0018327 +MONDO:0857473 adult central nervous system neoplasm NCIT:C5131 MONDO:equivalentTo Adult Central Nervous System Neoplasm A benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in adults. Representative examples of primary neoplasms include astrocytoma, meningioma, pituitary adenoma, and neurilemoma. Representative examples of tumor metastases from other organs to the central nervous system include lung and breast carcinoma. MONDO:0006130 +MONDO:0857476 breast ductal carcinoma in situ, non-comedo type NCIT:C5137 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Non-Comedo Type Breast ductal carcinoma in situ characterized by the presence of sheets of tumor cells without evidence of central necrosis or cell death. MONDO:0005023 +MONDO:0857477 invasive breast cribriform carcinoma NCIT:C5142 MONDO:equivalentTo Invasive Breast Cribriform Carcinoma An invasive adenocarcinoma of the breast with a favorable clinical outcome, characterized by the presence of a sieve-like or cribriform infiltrating pattern. MONDO:0004988|MONDO:0006256|MONDO:0006176 +MONDO:0857478 malignant breast adenomyoepithelioma NCIT:C5143 MONDO:equivalentTo Malignant Breast Adenomyoepithelioma An adenomyoepithelioma of the breast in which the epithelial, myoepithelial, or both components have undergone malignant transformation. Such cases may follow an aggressive clinical course, including recurrences and local and distant metastases. MONDO:0002066|MONDO:0007254 +MONDO:0857479 infratentorial glioblastoma NCIT:C5148 MONDO:equivalentTo Infratentorial Glioblastoma A glioblastoma that occurs in the infratentorial region. MONDO:0003107|MONDO:0002501 +MONDO:0857480 supratentorial glioblastoma NCIT:C5149 MONDO:equivalentTo Supratentorial Glioblastoma A glioblastoma that occurs in the supratentorial region. MONDO:0002071|MONDO:0002501 +MONDO:0857482 breast high grade mucoepidermoid carcinoma NCIT:C5167 MONDO:equivalentTo Breast High Grade Mucoepidermoid Carcinoma An aggressive mucoepidermoid carcinoma that arises from the breast. It is characterized by the presence of focal necrosis and high mitotic activity. Lymph node and distant metastases are common. The prognosis is usually poor. MONDO:0003087 +MONDO:0857483 breast low grade mucoepidermoid carcinoma NCIT:C5168 MONDO:equivalentTo Breast Low Grade Mucoepidermoid Carcinoma A slow growing mucoepidermoid carcinoma that arises from the breast. It is characterized by the presence of keratinization in the neoplastic squamous cells and lumina formation by glandular neoplastic cells. Complete excision may be curative. MONDO:0003087 +MONDO:0857486 breast non-hodgkin lymphoma NCIT:C5181 MONDO:equivalentTo Breast Non-Hodgkin Lymphoma A non-Hodgkin lymphoma that arises from the breast. There is no history of extramammary breast non-Hodgkin lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast non-Hodgkin lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. MONDO:0018908|MONDO:0003661 +MONDO:0857487 breast complex fibroadenoma NCIT:C5194 MONDO:equivalentTo Breast Complex Fibroadenoma A breast fibroadenoma that displays fibrocystic changes including apocrine metaplasia, sclerosing adenosis, and cyst formation. MONDO:0002056 +MONDO:0857488 benign nipple neoplasm NCIT:C5197 MONDO:equivalentTo Benign Nipple Neoplasm A neoplasm that arises from the nipple and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0000620|MONDO:0002482 +MONDO:0857490 breast papillary neoplasm NCIT:C5206 MONDO:equivalentTo Breast Papillary Neoplasm A benign or malignant papillary neoplasm that arises from the breast. It is characterized by the presence of epithelial proliferations that are supported by fibrovascular cores. Representative examples are intraductal papilloma and papillary carcinoma. MONDO:0021100|MONDO:0021096 +MONDO:0857492 malignant nipple neoplasm NCIT:C5213 MONDO:equivalentTo Malignant Nipple Neoplasm A malignant neoplasm that affects the area of the nipple. MONDO:0007254|MONDO:0002482 +MONDO:0857493 benign ovarian thecoma NCIT:C5219 MONDO:equivalentTo Benign Ovarian Thecoma A thecoma of the ovary that does not metastasize to other anatomic sites. MONDO:0024387|MONDO:0037253 +MONDO:0857496 ovarian soft tissue neoplasm NCIT:C5244 MONDO:equivalentTo Ovarian Soft Tissue Neoplasm A benign, intermediate, or malignant mesenchymal neoplasm of the ovary. Representative examples include leiomyoma, myxoma, and sarcoma. MONDO:0006424|MONDO:0021068 +MONDO:0857498 gastric burkitt lymphoma NCIT:C5251 MONDO:equivalentTo Gastric Burkitt Lymphoma An extranodal Burkitt lymphoma that arises from the stomach with the bulk of the mass located in the stomach. MONDO:0042493|MONDO:0007243 +MONDO:0857499 gastric t-cell non-hodgkin lymphoma NCIT:C5254 MONDO:equivalentTo Gastric T-Cell Non-Hodgkin Lymphoma A rare, extranodal T-cell non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. MONDO:0042493|MONDO:0015760 +MONDO:0857502 deletion of the short arm of chromosome 1 (1p) associated meningioma NCIT:C5294 MONDO:equivalentTo Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma A meningioma that is associated with deletion of chromosomal arm 1p. MONDO:0016642 +MONDO:0857503 deletion of chromosome 22 associated meningioma NCIT:C5305 MONDO:equivalentTo Deletion of Chromosome 22 Associated Meningioma A meningioma that is associated with deletion of chromosome 22. This abnormality is the most consistent cytogenetic finding that is detected in meningiomas. MONDO:0016642 +MONDO:0857504 deletion of chromosome 3p associated meningioma NCIT:C5306 MONDO:equivalentTo Deletion of Chromosome 3p Associated Meningioma A meningioma that is associated with deletion of chromosomal arm 3p. MONDO:0016642 +MONDO:0857507 extra-adrenal retroperitoneal paraganglioma NCIT:C5328 MONDO:equivalentTo Extra-Adrenal Retroperitoneal Paraganglioma A sympathetic paraganglioma arising from the retroperitoneum, outside the adrenal gland. MONDO:0024645|MONDO:0000550 +MONDO:0857508 hereditary paraganglioma NCIT:C5329 MONDO:equivalentTo Hereditary Paraganglioma A hereditary neoplasm arising from paraganglia. The majority of cases (up to 80%) are multifocal. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes. MONDO:0000448 +MONDO:0857513 great vessel neoplasm NCIT:C5348 MONDO:equivalentTo Great Vessel Neoplasm A neoplasm involving a great vessel. MONDO:0024757 +MONDO:0857514 mesenchymal chondrosarcoma of bone NCIT:C53493 MONDO:equivalentTo Mesenchymal Chondrosarcoma of Bone A morphologic variant of chondrosarcoma arising from the bone. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. MONDO:0021054|MONDO:0006853 +MONDO:0857518 cardiac schwannoma NCIT:C5358 MONDO:equivalentTo Cardiac Schwannoma A benign peripheral nervous system neoplasm that is composed of well-differentiated Schwann cells and affects the heart. MONDO:0021450|MONDO:0004820 +MONDO:0857519 cardiac epithelioid hemangioendothelioma NCIT:C5362 MONDO:equivalentTo Cardiac Epithelioid Hemangioendothelioma A low-grade malignant blood vessel neoplasm, arising from the heart. IIt is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. MONDO:0015523|MONDO:0001340 +MONDO:0857520 cardiac kaposi sarcoma NCIT:C5363 MONDO:equivalentTo Cardiac Kaposi Sarcoma A Kaposi sarcoma arising from the heart. MONDO:0005055|MONDO:0003354 +MONDO:0857524 cardiac myeloid sarcoma NCIT:C5370 MONDO:equivalentTo Cardiac Myeloid Sarcoma A rare extramedullary myeloid tumor that arises from the heart. It may present in association with or as a site of relapse of acute myeloid leukemia. Rare cases of myeloid sarcoma of the heart preceding acute myeloid leukemia have also been reported. MONDO:0001340|MONDO:0006861 +MONDO:0857525 secondary osteosarcoma NCIT:C53704 MONDO:equivalentTo Secondary Osteosarcoma An osteosarcoma arising from a pre-existing lesion of the bone, usually Paget disease, or due to radiation therapy. MONDO:0002629|MONDO:0024881 +MONDO:0857526 malignant inferior vena cava neoplasm NCIT:C5377 MONDO:equivalentTo Malignant Inferior Vena Cava Neoplasm A malignant neoplasm involving the inferior vena cava. MONDO:0040676 +MONDO:0857527 malignant superior vena cava neoplasm NCIT:C5379 MONDO:equivalentTo Malignant Superior Vena Cava Neoplasm A malignant neoplasm involving the superior vena cava. MONDO:0040676 +MONDO:0857528 malignant pulmonary artery neoplasm NCIT:C5380 MONDO:equivalentTo Malignant Pulmonary Artery Neoplasm A malignant neoplasm involving the pulmonary artery. MONDO:0040676 +MONDO:0857529 malignant pulmonary vein neoplasm NCIT:C5383 MONDO:equivalentTo Malignant Pulmonary Vein Neoplasm A malignant neoplasm involving the pulmonary vein. MONDO:0040676 +MONDO:0857532 leiomyosarcoma of vessels NCIT:C5387 MONDO:equivalentTo Leiomyosarcoma of Vessels An aggressive malignant smooth muscle neoplasm, arising from the walls of the vascular system. It is characterized by a proliferation of neoplastic spindle cells. MONDO:0005058 +MONDO:0857533 benign atrial neoplasm NCIT:C5389 MONDO:equivalentTo Benign Atrial Neoplasm A neoplasm that arises from the right or left atrium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021450 +MONDO:0857535 solitary adult fibroma NCIT:C5394 MONDO:equivalentTo Solitary Adult Fibroma A solitary benign neoplasm arising from the fibrous soft tissues. The tumor is characterized by the presence of spindle-shaped fibroblasts. MONDO:0005167 +MONDO:0857536 fibrous histiocytoma of bone NCIT:C53963 MONDO:equivalentTo Fibrous Histiocytoma of Bone A rare, benign neoplasm usually arising from the non-metaphyseal regions of long bones or pelvis. It is characterized by the presence of fibroblastic spindle cells arranged in a whorled storiform pattern, osteoclast-like giant cells, foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. MONDO:0000631|MONDO:0002989 +MONDO:0857537 bone leiomyoma NCIT:C53964 MONDO:equivalentTo Bone Leiomyoma A rare leiomyoma affecting the bone. MONDO:0001572 +MONDO:0857542 benign gastrointestinal stromal tumor NCIT:C53998 MONDO:equivalentTo Benign Gastrointestinal Stromal Tumor A gastrointestinal stromal tumor that is characterized by a maximum diameter equal or less than 5 cm (gastric localization), or equal or less than 2 cm (intestinal localization) and no more than 5 mitotic figures per 50 high power fields. MONDO:0044335|MONDO:0011719 +MONDO:0857543 malignant gastrointestinal stromal tumor NCIT:C53999 MONDO:equivalentTo Malignant Gastrointestinal Stromal Tumor A gastrointestinal stromal tumor that is characterized by large size (diameter greater than 10 cm for gastric localization and greater than 5 cm for intestinal localization) or more than 5 mitotic figures per 50 high power fields. MONDO:0011719|MONDO:0044337 +MONDO:0857546 region 17p13 allelic loss associated medulloblastoma NCIT:C5402 MONDO:equivalentTo Region 17p13 Allelic Loss Associated Medulloblastoma A medulloblastoma characterized by the loss of one of the p13 regions of chromosome 17. Loss of genetic material of chromosome arm 17p is the most common molecular genetic abnormality found in medulloblastomas. MONDO:0007959 +MONDO:0857547 nevoid basal cell carcinoma syndrome associated medulloblastoma NCIT:C5405 MONDO:equivalentTo Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma A medulloblastoma developing in patients with multiple basal cell carcinomas. It is observed in patients with nevoid basal cell carcinoma syndrome and it is associated with PTCH gene inactivation. MONDO:0007959 +MONDO:0857548 central nervous system t-cell non-hodgkin lymphoma NCIT:C5409 MONDO:equivalentTo Central Nervous System T-Cell Non-Hodgkin Lymphoma A T-cell lymphoblastic lymphoma or a mature T-cell and NK-cell neoplasm that affects the brain, meninges, or spinal cord. MONDO:0015760|MONDO:0044887 +MONDO:0857549 gastric granular cell tumor NCIT:C54094 MONDO:equivalentTo Gastric Granular Cell Tumor A benign or malignant granular cell tumor that arises from the stomach. MONDO:0006235|MONDO:0021085 +MONDO:0857550 malignant central nervous system germ cell tumor NCIT:C54099 MONDO:equivalentTo Malignant Central Nervous System Germ Cell Tumor A germ cell tumor that affects the central nervous system, characterized by the presence of malignant morphologic characteristics. Representative examples include choriocarcinoma, embryonal carcinoma, and germinoma. MONDO:0003000|MONDO:0002714|MONDO:0003113 +MONDO:0857552 breast columnar cell lesion NCIT:C54180 MONDO:equivalentTo Breast Columnar Cell Lesion A morphologic spectrum of lesions that arise in the terminal ductal lobular units of the breast parenchyma. These lesions are characterized by the presence of columnar epithelial cells that line dilated terminal ductal lobular units. Cytological and architectural atypia may be absent or minimal, or significant enough to raise the possibility of atypical ductal hyperplasia or ductal carcinoma in situ. Columnar cell lesions are frequently found in breast biopsies but their biologic significance is not known. MONDO:0021100 +MONDO:0857556 head and neck keratinizing squamous cell carcinoma NCIT:C54283 MONDO:equivalentTo Head and Neck Keratinizing Squamous Cell Carcinoma A squamous cell carcinoma that arises from the head and neck region and is characterized by prominent production of keratin. MONDO:0005056|MONDO:0010150 +MONDO:0857559 metastasizing ameloblastoma NCIT:C54297 MONDO:equivalentTo Metastasizing Ameloblastoma A rare, well differentiated, cytologically benign ameloblastoma which paradoxically metastasizes. MONDO:0024883|MONDO:0017795 +MONDO:0857562 lipomatosis of nerve NCIT:C5431 MONDO:equivalentTo Lipomatosis of Nerve A tumor composed of mature adipocytes and fibrous tissue infiltrating the epineurium and peripheral nerves. It is often seen at birth or during childhood and may be associated with macrodactyly. MONDO:0000648|MONDO:0001406|MONDO:0006574 +MONDO:0857564 laryngeal papillary squamous cell carcinoma NCIT:C54335 MONDO:equivalentTo Laryngeal Papillary Squamous Cell Carcinoma A variant of squamous cell carcinoma that arises from the larynx. It is characterized by exophytic and papillary growth usually in the supraglottic area. The papillae are covered by a malignant stratified squamous epithelium. MONDO:0002979|MONDO:0005595 +MONDO:0857565 laryngeal spindle cell squamous carcinoma NCIT:C54336 MONDO:equivalentTo Laryngeal Spindle Cell Squamous Carcinoma A squamous cell carcinoma that arises from the larynx. It is characterized by the presence of a malignant spindle cell cellular component. In some cases, there is a biphasic morphology due to the presence of a well-differentiated squamous cell carcinoma component. The latter is either in situ or invasive squamous cell carcinoma. MONDO:0005595|MONDO:0021663 +MONDO:0857566 laryngeal acantholytic squamous cell carcinoma NCIT:C54337 MONDO:equivalentTo Laryngeal Acantholytic Squamous Cell Carcinoma A rare variant of squamous cell carcinoma that arises from the larynx. It is characterized by acantholysis of the tumor cells that results in the formation of pseudolumina that resemble glandular structures. MONDO:0003487|MONDO:0005595 +MONDO:0857567 laryngeal adenosquamous carcinoma NCIT:C54338 MONDO:equivalentTo Laryngeal Adenosquamous Carcinoma A rare, aggressive carcinoma that arises from the larynx. It is characterized by the presence of squamous cell carcinoma and adenocarcinoma components. Hoarseness, sore throat, and dysphagia are the presenting symptoms. MONDO:0002358|MONDO:0006074 +MONDO:0857568 laryngeal undifferentiated carcinoma NCIT:C54339 MONDO:equivalentTo Laryngeal Undifferentiated Carcinoma An undifferentiated carcinoma that arises from the larynx. This category includes lymphoepithelial carcinoma and giant cell carcinoma. MONDO:0005617|MONDO:0002358 +MONDO:0857570 kadish stage c olfactory neuroblastoma NCIT:C5435 MONDO:equivalentTo Kadish Stage C Olfactory Neuroblastoma An olfactory neuroblastoma that extends beyond the nasal cavity and paranasal sinuses. MONDO:0006329 +MONDO:0857571 drop metastasis in the spinal cord NCIT:C5439 MONDO:equivalentTo Drop Metastasis in the Spinal Cord An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid. MONDO:0044912 +MONDO:0857572 nasopharyngeal low grade papillary adenocarcinoma NCIT:C54400 MONDO:equivalentTo Nasopharyngeal Low Grade Papillary Adenocarcinoma A low-grade exophytic adenocarcinoma with papillary growth that arises from the epithelium of the nasopharynx. If it is completely removed, the prognosis is excellent. MONDO:0002512|MONDO:0015459 +MONDO:0857574 meningeal gliomatosis NCIT:C5446 MONDO:equivalentTo Meningeal Gliomatosis Diffuse or multifocal infiltration of the meninges by malignant glioma. MONDO:0100342|MONDO:0021322 +MONDO:0857575 invasive breast apocrine carcinoma NCIT:C5457 MONDO:equivalentTo Invasive Breast Apocrine Carcinoma An invasive breast adenocarcinoma with cytological and immunophenotypic characteristics of apocrine differentiation in more than 90 percent of the malignant cells. MONDO:0006256|MONDO:0003934 +MONDO:0857576 breast nevus NCIT:C54658 MONDO:equivalentTo Breast Nevus A benign melanocytic nevus that arises from the breast skin. MONDO:0044794|MONDO:0000620 +MONDO:0857577 acral nevus NCIT:C54659 MONDO:equivalentTo Acral Nevus A melanocytic nevus that arises from the palms, soles, and nails. MONDO:0044794 +MONDO:0857578 flexural skin nevus NCIT:C54660 MONDO:equivalentTo Flexural Skin Nevus A benign nevus occurring in the flexural skin. MONDO:0044794 +MONDO:0857580 nevoid melanoma NCIT:C54662 MONDO:equivalentTo Nevoid Melanoma A rare variant of cutaneous melanoma occurring mostly in adults in their fifth decade. Morphologically it resembles an ordinary compound or dermal nevus. MONDO:0005012 +MONDO:0857581 signet ring melanoma NCIT:C54663 MONDO:equivalentTo Signet Ring Melanoma A rare variant of cutaneous melanoma, characterized by the presence of malignant cells with signet-ring morphology. MONDO:0005012 +MONDO:0857583 invasive breast lobular carcinoma, signet ring variant NCIT:C54691 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Signet Ring Variant An invasive lobular carcinoma characterized by the presence of malignant epithelial cells with large intracytoplasmic lumina that cause displacement of the nuclei towards one pole of the cells. MONDO:0002671|MONDO:0005051 +MONDO:0857587 central nervous system dermoid cyst NCIT:C5508 MONDO:equivalentTo Central Nervous System Dermoid Cyst A dermoid cyst arising in the central nervous system. MONDO:0003733|MONDO:0002378 +MONDO:0857589 appendix mucinous cystadenoma NCIT:C5510 MONDO:equivalentTo Appendix Mucinous Cystadenoma A cystically dilated epithelial neoplasm arising from the appendix. It is characterized by the presence of a cystic structure that is filled with mucus. MONDO:0006859|MONDO:0006088 +MONDO:0857592 prostate kaposi sarcoma NCIT:C5523 MONDO:equivalentTo Prostate Kaposi Sarcoma A Kaposi sarcoma arising from the prostate. MONDO:0002854|MONDO:0005055 +MONDO:0857593 prostate myeloid sarcoma NCIT:C5527 MONDO:equivalentTo Prostate Myeloid Sarcoma Myeloid sarcoma that affects the prostate gland. It may present in association with or as a site of relapse of acute myeloid leukemia. Cases of myeloid sarcoma of the prostate gland preceding acute myeloid leukemia have also been reported. MONDO:0008315|MONDO:0006861 +MONDO:0857595 prostate non-hodgkin lymphoma NCIT:C5534 MONDO:equivalentTo Prostate Non-Hodgkin Lymphoma A rare non-Hodgkin lymphoma that arises from the prostate gland. MONDO:0018908|MONDO:0000996 +MONDO:0857596 ceruminous neoplasm NCIT:C5558 MONDO:equivalentTo Ceruminous Neoplasm An adenoma or carcinoma that arises from the ceruminous glands in the external auditory canal. MONDO:0003686|MONDO:0021235 +MONDO:0857599 stage i skin cancer NCIT:C5581 MONDO:equivalentTo Stage I Skin Cancer Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness, Clark level equal or greater than IV, and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th ed.) MONDO:0002656 +MONDO:0857600 stage ii skin cancer NCIT:C5582 MONDO:equivalentTo Stage II Skin Cancer Stage II includes: T2, N0, M0. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness; Clark level equal or greater than IV; and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th ed.) MONDO:0002656 +MONDO:0857601 stage iii skin cancer NCIT:C5583 MONDO:equivalentTo Stage III Skin Cancer Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor with invasion of maxilla, mandible, orbit, or temporal bone. T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th Ed.) MONDO:0002656 +MONDO:0857602 stage iv skin cancer NCIT:C5584 MONDO:equivalentTo Stage IV Skin Cancer Stage IV includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T Any, N3, M0); (T4, N Any, M0); (T Any, N Any, M1). T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. T3: Tumor with invasion of maxilla, mandible, orbit, or temporal bone. T4: Tumor with invasion of skeleton or perineural invasion of skull base. N0: No regional lymph node metastasis. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M1: Distant metastases. (AJCC 7th Ed.) MONDO:0002656 +MONDO:0857604 jugular foramen neoplasm NCIT:C5589 MONDO:equivalentTo Jugular Foramen Neoplasm A neoplasm that affects the jugular foramen. Representative examples include paraganglioma, schwannoma, and meningioma. MONDO:0021351 +MONDO:0857607 benign anal granular cell tumor NCIT:C5607 MONDO:equivalentTo Benign Anal Granular Cell Tumor A granular cell tumor that arises from the anus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021469|MONDO:0003250 +MONDO:0857611 metastatic malignant neoplasm in the skin NCIT:C5629 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Skin The spread of a malignant neoplasm to the skin. This may be from a primary skin malignant neoplasm, or from a malignant neoplasm at a distant site. MONDO:0002898|MONDO:0024880 +MONDO:0857613 occult lung carcinoma NCIT:C5641 MONDO:equivalentTo Occult Lung Carcinoma A lung carcinoma detectable by sputum cytology or bronchial washings only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. MONDO:0005138 +MONDO:0857614 endobronchial hamartoma NCIT:C5662 MONDO:equivalentTo Endobronchial Hamartoma A benign neoplasm that arises endobronchially. It is characterized by the presence of mesenchymal tissues admixed with entrapped respiratory epithelium. It presents with signs and symptoms of bronchial obstruction. Bronchoplastic resection is usually curative. Recurrence is very rare. MONDO:0021540 +MONDO:0857615 multiple pulmonary hamartomas NCIT:C5663 MONDO:equivalentTo Multiple Pulmonary Hamartomas The presence of multiple hamartomas in the lungs. Hamartomas are usually solitary lesions on chest-x-rays. Multiple lung hamartomas are rare. MONDO:0021540 +MONDO:0857619 colorectal adenoma with severe dysplasia NCIT:C5685 MONDO:equivalentTo Colorectal Adenoma with Severe Dysplasia An adenoma that arises from the colon or rectum. It is characterized by the presence of severe epithelial dysplasia. MONDO:0005484 +MONDO:0857623 esophageal schwannoma NCIT:C5703 MONDO:equivalentTo Esophageal Schwannoma A slowly growing, benign, usually encapsulated neoplasm arising from the esophagus. Morphologically, it is composed of neoplastic differentiated Schwann cells. MONDO:0021459|MONDO:0004820 +MONDO:0857629 extrahepatic bile duct undifferentiated carcinoma NCIT:C5780 MONDO:equivalentTo Extrahepatic Bile Duct Undifferentiated Carcinoma A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts. MONDO:0005617|MONDO:0003090 +MONDO:0857635 esophageal neuroendocrine neoplasm NCIT:C5821 MONDO:equivalentTo Esophageal Neuroendocrine Neoplasm A neoplasm with neuroendocrine differentiation that arises from the esophagus. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). MONDO:0021355|MONDO:0024503 +MONDO:0857638 extrahepatic bile duct tubular adenoma NCIT:C5850 MONDO:equivalentTo Extrahepatic Bile Duct Tubular Adenoma An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a tubular pattern. MONDO:0003445|MONDO:0024660 +MONDO:0857646 oral cavity granular cell tumor NCIT:C5912 MONDO:equivalentTo Oral Cavity Granular Cell Tumor A rare neoplasm that arises from the oral cavity, usually the tongue. It is characterized by the presence of plump eosinophilic cells with abundant granular cytoplasm. The neoplastic cells extend into the surrounding tissues, usually skeletal muscle. The vast majority of cases follow a benign clinical course. Recurrences are rare after removal of the tumor. MONDO:0006235|MONDO:0021245 +MONDO:0857647 oral cavity adenoma NCIT:C5913 MONDO:equivalentTo Oral Cavity Adenoma A monomorphic or pleomorphic adenoma that arises from the salivary glands in the oral cavity. MONDO:0004972|MONDO:0021445|MONDO:0036976 +MONDO:0857648 oral cavity adenocarcinoma NCIT:C5914 MONDO:equivalentTo Oral Cavity Adenocarcinoma An adenocarcinoma that arises from the oral cavity. MONDO:0044925|MONDO:0004970 +MONDO:0857660 minor salivary gland mucoepidermoid carcinoma NCIT:C5953 MONDO:equivalentTo Minor Salivary Gland Mucoepidermoid Carcinoma A carcinoma that arises from the minor salivary glands. It usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. MONDO:0021009|MONDO:0045069 +MONDO:0857661 minor salivary gland small cell neuroendocrine carcinoma NCIT:C5956 MONDO:equivalentTo Minor Salivary Gland Small Cell Neuroendocrine Carcinoma An infrequent small cell carcinoma that arises from a minor salivary gland. It is characterized by the presence of neuroendocrine differentiation and a high number of mitotic figures. MONDO:0006405|MONDO:0045069 +MONDO:0857663 minor salivary gland squamous cell carcinoma NCIT:C5959 MONDO:equivalentTo Minor Salivary Gland Squamous Cell Carcinoma A squamous cell carcinoma that affects the minor salivary glands. MONDO:0045069|MONDO:0044740 +MONDO:0857671 oropharyngeal polyp NCIT:C5988 MONDO:equivalentTo Oropharyngeal Polyp A benign exophytic growth that arises from the oropharynx. MONDO:0005079|MONDO:0021479 +MONDO:0857679 lung mature b-cell neoplasm NCIT:C60310 MONDO:equivalentTo Lung Mature B-Cell Neoplasm A neoplasm that arises from mature B-lymphocytes or plasma cells in the lung. Representative examples include mucosa-associated lymphoid tissue lymphoma, diffuse large B-cell lymphoma, lymphomatoid granulomatosis, and primary pulmonary plasmacytoma. MONDO:0021117|MONDO:0004949 +MONDO:0857682 nasopharyngeal polyp NCIT:C6034 MONDO:equivalentTo Nasopharyngeal Polyp A benign exophytic growth that arises from the nasopharynx. MONDO:0005079|MONDO:0021478 +MONDO:0857683 stage 0 nasopharyngeal undifferentiated carcinoma ajcc v6, v7, and v8 NCIT:C6035 MONDO:equivalentTo Stage 0 Nasopharyngeal Undifferentiated Carcinoma AJCC v6, v7, and v8 Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.) MONDO:0021297|MONDO:0021537 +MONDO:0857685 nasopharyngeal squamous papilloma NCIT:C6037 MONDO:equivalentTo Nasopharyngeal Squamous Papilloma A benign exophytic neoplasm that arises from the nasopharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. MONDO:0021478|MONDO:0001825 +MONDO:0857686 oropharyngeal squamous papilloma NCIT:C6038 MONDO:equivalentTo Oropharyngeal Squamous Papilloma A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. MONDO:0001825|MONDO:0021479 +MONDO:0857687 stage 0 oropharyngeal squamous cell carcinoma ajcc v6 and v7 NCIT:C6039 MONDO:equivalentTo Stage 0 Oropharyngeal Squamous Cell Carcinoma AJCC v6 and v7 Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0044704|MONDO:0021298 +MONDO:0857689 stage 0 hypopharyngeal squamous cell carcinoma ajcc v6, v7, and v8 NCIT:C6048 MONDO:equivalentTo Stage 0 Hypopharyngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.) MONDO:0021288|MONDO:0044638 +MONDO:0857690 stage 0 oral cavity squamous cell carcinoma ajcc v6 and v7 NCIT:C6052 MONDO:equivalentTo Stage 0 Oral Cavity Squamous Cell Carcinoma AJCC v6 and v7 Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0004958|MONDO:0000371|MONDO:0004693 +MONDO:0857692 anterior tongue neoplasm NCIT:C6062 MONDO:equivalentTo Anterior Tongue Neoplasm A benign or malignant neoplasm that affects the anterior portion of the tongue. MONDO:0021240 +MONDO:0857697 neck carcinoma NCIT:C6077 MONDO:equivalentTo Neck Carcinoma A carcinoma that arises from the anatomic structures of the neck region. MONDO:0021310|MONDO:0002038 +MONDO:0857698 external ear actinic keratosis NCIT:C6080 MONDO:equivalentTo External Ear Actinic Keratosis Actinic keratosis that develops in the skin of the external ear. MONDO:0021235|MONDO:0005173 +MONDO:0857700 middle ear paraganglioma NCIT:C6085 MONDO:equivalentTo Middle Ear Paraganglioma A jugulotympanic paraganglioma arising from paraganglia in the middle ear. MONDO:0021366|MONDO:0021064 +MONDO:0857702 benign uveal neoplasm NCIT:C6104 MONDO:equivalentTo Benign Uveal Neoplasm A neoplasm that arises from the uvea and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.. MONDO:0021225|MONDO:0021454 +MONDO:0857703 stage 0 laryngeal squamous cell carcinoma ajcc v6, v7, and v8 NCIT:C6121 MONDO:equivalentTo Stage 0 Laryngeal Squamous Cell Carcinoma AJCC v6, v7, and v8 Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.) MONDO:0004693|MONDO:0005595|MONDO:0004696 +MONDO:0857715 testicular typical seminoma NCIT:C61383 MONDO:equivalentTo Testicular Typical Seminoma A testicular seminoma characterized by the presence of uniform round germ cells with glycogen-rich cytoplasm and large nuclei, and a lymphocytic infiltrate. MONDO:0003669 +MONDO:0857719 ureter undifferentiated carcinoma NCIT:C6159 MONDO:equivalentTo Ureter Undifferentiated Carcinoma Undifferentiated carcinoma that affects the ureter. MONDO:0006481|MONDO:0005617 +MONDO:0857720 urethral undifferentiated carcinoma NCIT:C6168 MONDO:equivalentTo Urethral Undifferentiated Carcinoma An undifferentiated carcinoma arising from the urethra. MONDO:0021327|MONDO:0005617 +MONDO:0857725 hard palate mucoepidermoid carcinoma NCIT:C6214 MONDO:equivalentTo Hard Palate Mucoepidermoid Carcinoma A mucoepidermoid carcinoma arising from the minor salivary glands in the hard palate. MONDO:0044964|MONDO:0021339 +MONDO:0857728 salivary gland clear cell carcinoma NCIT:C62191 MONDO:equivalentTo Salivary Gland Clear Cell Carcinoma A carcinoma that arises from the salivary glands, most often the minor salivary glands. It is characterized by the presence of a monomorphic population of malignant epithelial cells with clear cytoplasm and the absence of morphologic features that define other primary neoplasms of the salivary glands. MONDO:0000521 +MONDO:0857729 breast tubular adenoma NCIT:C62210 MONDO:equivalentTo Breast Tubular Adenoma A benign, well circumscribed neoplasm that arises from the breast. It is composed entirely of tubular structures that contain epithelial and myoepithelial cells. MONDO:0002058 +MONDO:0857730 conjunctival squamous papilloma NCIT:C6224 MONDO:equivalentTo Conjunctival Squamous Papilloma A papilloma that arises from the conjunctival squamous epithelium. It is associated with human papillomavirus infection. MONDO:0001825|MONDO:0006105 +MONDO:0857731 skin nodular basal cell carcinoma NCIT:C62282 MONDO:equivalentTo Skin Nodular Basal Cell Carcinoma A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated. MONDO:0005341 +MONDO:0857732 superficial basal cell carcinoma NCIT:C62284 MONDO:equivalentTo Superficial Basal Cell Carcinoma A variant of basal cell carcinoma of the skin presenting as erythematous, often multiple patches. Morphologically, it is characterized by the presence of superficial lobules of basaloid cells projecting into the dermis. The basaloid cell lobules are surrounded by myxoid stroma and are usually confined to the papillary dermis. MONDO:0005341 +MONDO:0857734 minor salivary gland acinic cell carcinoma NCIT:C6243 MONDO:equivalentTo Minor Salivary Gland Acinic Cell Carcinoma An adenocarcinoma with serous acinar cell differentiation that arises from the minor salivary glands. MONDO:0006304|MONDO:0006400 +MONDO:0857736 ovarian endometrioid tumor NCIT:C6257 MONDO:equivalentTo Ovarian Endometrioid Tumor A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. MONDO:0002480|MONDO:0002229 +MONDO:0857738 childhood cerebral ependymoma, not otherwise specified NCIT:C6268 MONDO:equivalentTo Childhood Cerebral Ependymoma, Not Otherwise Specified An ependymoma, not otherwise specified that arises from the cerebral hemispheres and occurs during childhood. MONDO:0004249 +MONDO:0857739 fallopian tube undifferentiated carcinoma NCIT:C6281 MONDO:equivalentTo Fallopian Tube Undifferentiated Carcinoma An invasive carcinoma arising from the fallopian tube. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation. MONDO:0005617|MONDO:0006206 +MONDO:0857740 vaginal verrucous carcinoma NCIT:C6325 MONDO:equivalentTo Vaginal Verrucous Carcinoma A squamous cell carcinoma that arises from the vagina and is characterized by a papillary growth pattern, acanthotic epithelium with minimal or absent atypia, and pushing borders. MONDO:0006490|MONDO:0006006 +MONDO:0857743 benign uterine corpus mixed epithelial and mesenchymal neoplasm NCIT:C6335 MONDO:equivalentTo Benign Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm A non-metastasizing neoplasm that arises from the uterine corpus and is composed of epithelial and mesenchymal elements. Representative examples include adenomyoma and adenofibroma. MONDO:0021525|MONDO:0016255 +MONDO:0857744 cervical undifferentiated carcinoma NCIT:C6345 MONDO:equivalentTo Cervical Undifferentiated Carcinoma A rare carcinoma that arises from the cervix and is characterized by the lack of specific cellular differentiation. MONDO:0005617|MONDO:0005131 +MONDO:0857745 testicular mixed embryonal carcinoma and seminoma NCIT:C6350 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Seminoma A malignant mixed germ cell tumor arising from the testis. It is characterized by the presence of a mixture of embryonal carcinoma and a seminomatous component. MONDO:0003120 +MONDO:0857746 testicular mixed embryonal carcinoma and teratoma NCIT:C6351 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Teratoma A malignant mixed germ cell tumor arising from the testis, characterized by the presence of an embryonal carcinomatous component and a teratomatous component. MONDO:0003403|MONDO:0002599|MONDO:0003120 +MONDO:0857747 testicular mixed embryonal carcinoma and teratoma with seminoma NCIT:C6352 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Teratoma with Seminoma A malignant mixed germ cell tumor arising from the testis. It is characterized by the presence of a mixture of embryonal carcinoma, a teratomatous component, and a seminomatous component. MONDO:0003120 +MONDO:0857748 kidney lymphoma NCIT:C63532 MONDO:equivalentTo Kidney Lymphoma A lymphoma that arises from the kidney. There is no evidence of a systemic lymphoproliferative disorder. MONDO:0002367|MONDO:0017207 +MONDO:0857750 testicular mature teratoma NCIT:C6355 MONDO:equivalentTo Testicular Mature Teratoma A teratoma that arises from the testis and is composed of well differentiated, adult-type tissues. MONDO:0018193|MONDO:0021447|MONDO:0003517 +MONDO:0857752 undifferentiated carcinoma with osteoclast-like giant cells NCIT:C63622 MONDO:equivalentTo Undifferentiated Carcinoma with Osteoclast-Like Giant Cells A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular or squamous differentiation and giant cells resembling osteoclasts. MONDO:0005617 +MONDO:0857753 penile kaposi sarcoma NCIT:C6377 MONDO:equivalentTo Penile Kaposi Sarcoma A Kaposi sarcoma arising from the penis. MONDO:0022293|MONDO:0005055|MONDO:0001387 +MONDO:0857758 orbit paraganglioma NCIT:C6408 MONDO:equivalentTo Orbit Paraganglioma An extra-adrenal paraganglioma arising from the orbit. Patients may present with visual disturbances or proptosis. MONDO:0006239|MONDO:0024611 +MONDO:0857759 laryngeal paraganglioma NCIT:C6409 MONDO:equivalentTo Laryngeal Paraganglioma An extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to the larynx. Patients may present with hoarseness and dysphagia. MONDO:0006239|MONDO:0015070|MONDO:0021052 +MONDO:0857760 intrathoracic paravertebral paraganglioma NCIT:C6411 MONDO:equivalentTo Intrathoracic Paravertebral Paraganglioma An intrathoracic sympathetic paraganglioma arising from paravertebral paraganglia. In functional tumors, the hypersecretion of catecholamines results in hypertension. MONDO:0000550|MONDO:0021350 +MONDO:0857763 foregut neuroendocrine tumor NCIT:C6421 MONDO:equivalentTo Foregut Neuroendocrine Tumor A neuroendocrine tumor that arises from the esophagus, stomach, or duodenum. MONDO:0000386 +MONDO:0857765 hindgut neuroendocrine tumor NCIT:C6423 MONDO:equivalentTo Hindgut Neuroendocrine Tumor A neuroendocrine tumor that arises from the sigmoid colon, descending colon, or rectum. MONDO:0000386 +MONDO:0857767 malignant mediastinal nongerminomatous germ cell tumor NCIT:C6439 MONDO:equivalentTo Malignant Mediastinal Nongerminomatous Germ Cell Tumor An extragonadal nongerminomatous malignant germ cell tumor that arises from the mediastinum. This category includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumors. MONDO:0003578|MONDO:0006298 +MONDO:0857768 gastric germ cell tumor NCIT:C6448 MONDO:equivalentTo Gastric Germ Cell Tumor A benign or malignant germ cell tumor that arises from the stomach. Representative examples include teratoma and choriocarcinoma. MONDO:0018201|MONDO:0021085 +MONDO:0857769 benign germ cell tumor NCIT:C6449 MONDO:equivalentTo Benign Germ Cell Tumor A germ cell tumor without evidence of atypia and metastatic potential. MONDO:0005165|MONDO:0005040 +MONDO:0857770 invasive thymoma NCIT:C6453 MONDO:equivalentTo Invasive Thymoma A thymoma of any morphologic type that extends beyond the capsule and infiltrates the surrounding tissues. MONDO:0006456 +MONDO:0857771 bone hemangioma NCIT:C6477 MONDO:equivalentTo Bone Hemangioma A hemangioma arising in the bone. MONDO:0000631|MONDO:0006500|MONDO:0024499 +MONDO:0857772 bone glomus tumor NCIT:C6480 MONDO:equivalentTo Bone Glomus Tumor A benign or malignant glomus tumor arising from the bone. MONDO:0019060|MONDO:0018327 +MONDO:0857773 extraabdominal fibromatosis NCIT:C6489 MONDO:equivalentTo Extraabdominal Fibromatosis An insidious poorly circumscribed neoplasm arising from the soft tissues outside the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, vascular collagenous stroma formation, and an infiltrative growth pattern. MONDO:0007608 +MONDO:0857774 deep lipoma NCIT:C6498 MONDO:equivalentTo Deep Lipoma A benign well-circumscribed tumor, composed of mature adipocytes, that arises within deep soft tissues. MONDO:0005106 +MONDO:0857775 benign skeletal muscle neoplasm NCIT:C6515 MONDO:equivalentTo Benign Skeletal Muscle Neoplasm A benign mesenchymal neoplasm arising from skeletal muscle tissue. MONDO:0002848|MONDO:0003061 +MONDO:0857776 non-small cell carcinoma NCIT:C65151 MONDO:equivalentTo Non-Small Cell Carcinoma A malignant epithelial neoplasm characterized by the absence of neoplastic small epithelial cells. A representative example is the lung non-small cell carcinoma. MONDO:0004993 +MONDO:0857777 malignant neoplasm, uncertain whether primary or metastatic NCIT:C65153 MONDO:equivalentTo Malignant Neoplasm, Uncertain Whether Primary or Metastatic A malignant neoplasm in which the examined tissue can not be determined with certainty if it represents the primary site of tumor growth or tumor spread from another anatomic site. MONDO:0004992 +MONDO:0857778 papillary carcinoma in situ NCIT:C65163 MONDO:equivalentTo Papillary Carcinoma In Situ An epithelial neoplasm with a papillary growth pattern in which the malignant cells are confined to the epithelium, without evidence of invasion. MONDO:0004647|MONDO:0006509 +MONDO:0857779 non-invasive papillary squamous cell carcinoma NCIT:C65164 MONDO:equivalentTo Non-Invasive Papillary Squamous Cell Carcinoma A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern, hyperkeratosis, and absence of invasion of adjacent tissues. MONDO:0002979 +MONDO:0857780 inverted squamous papilloma NCIT:C65165 MONDO:equivalentTo Inverted Squamous Papilloma A benign epithelial neoplasm characterized by an endophytic growth, papillary pattern, and proliferation of neoplastic squamous cells without morphologic evidence of malignancy. MONDO:0002537|MONDO:0001825 +MONDO:0857781 non-keratinizing large cell squamous cell carcinoma NCIT:C65173 MONDO:equivalentTo Non-Keratinizing Large Cell Squamous Cell Carcinoma A squamous cell carcinoma composed of large atypical cells, without morphologic evidence of keratin production. MONDO:0005096 +MONDO:0857782 non-keratinizing small cell squamous cell carcinoma NCIT:C65175 MONDO:equivalentTo Non-Keratinizing Small Cell Squamous Cell Carcinoma A squamous cell carcinoma composed of small atypical cells, without morphologic evidence of keratin production. MONDO:0005096 +MONDO:0857783 squamous cell carcinoma in situ with questionable stromal invasion NCIT:C65176 MONDO:equivalentTo Squamous Cell Carcinoma In Situ with Questionable Stromal Invasion A malignant epithelial neoplasm involving all the layers of the squamous epithelium, but it is not certain if it is confined to the squamous epithelium or it has invaded the basement membrane and the underlying stroma. MONDO:0005096 +MONDO:0857785 squamous cell carcinoma with horn formation NCIT:C65179 MONDO:equivalentTo Squamous Cell Carcinoma with Horn Formation A keratinizing squamous cell carcinoma characterized by the presence of horn pearls. Representative examples include squamous cell carcinomas of the face presenting as a cutaneous horn. MONDO:0005056 +MONDO:0857786 squamous cell carcinoma, clear cell type NCIT:C65180 MONDO:equivalentTo Squamous Cell Carcinoma, Clear Cell Type A squamous cell carcinoma characterized by the presence of malignant cells with clear cytoplasm. MONDO:0005096 +MONDO:0857787 non-invasive papillary transitional cell carcinoma NCIT:C65181 MONDO:equivalentTo Non-Invasive Papillary Transitional Cell Carcinoma A transitional cell carcinoma characterized by a papillary growth pattern and lack of stromal invasion. MONDO:0006350 +MONDO:0857789 malignant pancreatic insulinoma NCIT:C65186 MONDO:equivalentTo Malignant Pancreatic Insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. It displays vascular invasion and metastasizes to other anatomic sites. MONDO:0024677 +MONDO:0857790 malignant pancreatic glucagonoma NCIT:C65187 MONDO:equivalentTo Malignant Pancreatic Glucagonoma A glucagon-producing neuroendocrine tumor arising from the alpha cells of the pancreas. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. It displays vascular invasion and metastasizes to other anatomic sites. MONDO:0019959 +MONDO:0857791 malignant gastrinoma NCIT:C65188 MONDO:equivalentTo Malignant Gastrinoma A gastrin-producing neuroendocrine tumor. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. It displays vascular invasion and metastasizes to other anatomic sites. MONDO:0003523 +MONDO:0857792 malignant vipoma NCIT:C65189 MONDO:equivalentTo Malignant Vipoma An aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. It displays vascular invasion and metastasizes to other anatomic sites. MONDO:0019960 +MONDO:0857793 malignant somatostatinoma NCIT:C65190 MONDO:equivalentTo Malignant Somatostatinoma A neuroendocrine tumor arising from delta cells which produce somatostatin. It displays vascular invasion and metastasizes to other anatomic sites. MONDO:0006976 +MONDO:0857794 flat adenoma NCIT:C65193 MONDO:equivalentTo Flat Adenoma An adenoma of the gastrointestinal tract mucosa which grossly and morphologically does not appear as an elevated or polypoid lesion. MONDO:0006180 +MONDO:0857795 glandular papillomatosis NCIT:C65198 MONDO:equivalentTo Glandular Papillomatosis Multifocal neoplastic proliferations of the glandular epithelium displaying a papillary pattern. MONDO:0021098 +MONDO:0857796 thyroid gland follicular carcinoma, minimally invasive NCIT:C65200 MONDO:equivalentTo Thyroid Gland Follicular Carcinoma, Minimally Invasive A follicular carcinoma of the thyroid gland showing capsular invasion only. MONDO:0040677|MONDO:0005034 +MONDO:0857797 papillary mucinous cystadenocarcinoma NCIT:C65204 MONDO:equivalentTo Papillary Mucinous Cystadenocarcinoma An invasive adenocarcinoma characterized by cystic changes, papillary growth pattern, and the presence of malignant glandular cells which contain intracytoplasmic mucin. MONDO:0005074|MONDO:0005858 +MONDO:0857798 malignant testicular sertoli cell tumor NCIT:C6523 MONDO:equivalentTo Malignant Testicular Sertoli Cell Tumor A Sertoli cell tumor that arises from the testis and is characterized by nuclear pleomorphism, increased mitotic activity and necrotic changes. Metastases may be present at diagnosis. MONDO:0020808|MONDO:0000378 +MONDO:0857799 malignant pericytic neoplasm NCIT:C6530 MONDO:equivalentTo Malignant Pericytic Neoplasm A malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels, and cytologic atypia. MONDO:0002604|MONDO:0024637 +MONDO:0857802 ancient schwannoma NCIT:C6556 MONDO:equivalentTo Ancient Schwannoma A schwannoma that is characterized by degenerative changes such as hyalinization, hemorrhage, calcification and cystic change. MONDO:0002546 +MONDO:0857803 extraskeletal cartilaginous and osseous neoplasm NCIT:C6570 MONDO:equivalentTo Extraskeletal Cartilaginous and Osseous Neoplasm A benign or malignant mesenchymal neoplasm with cartilaginous or osseous differentiation arising from the soft tissues exclusively. Representative examples include chondroma, osteoma, and osteosarcoma. MONDO:0006424 +MONDO:0857804 intramuscular myxoma NCIT:C6579 MONDO:equivalentTo Intramuscular Myxoma A benign, painless soft tissue tumor that arises in a muscle, usually in a large muscle of the thigh, buttocks, shoulder, or upper arm. It is associated with point mutations of the GNAS gene. Grossly it is characterized by a gelatinous and lobulated cut surface. Morphologically it is composed of uniform spindled and stellate-shaped cells without atypia. The cells are separated by myxoid stroma. No recurrences have been reported. MONDO:0044784 +MONDO:0857805 juxta-articular myxoma NCIT:C6580 MONDO:equivalentTo Juxta-Articular Myxoma A rare myxoma that usually arises in an area close to a large joint. Morphologically it resembles a cellular myxoma. In contrast to an intramuscular myxoma, it is not associated with mutations of the GNAS gene. MONDO:0044784 +MONDO:0857806 peripheral neuroblastoma NCIT:C6591 MONDO:equivalentTo Peripheral Neuroblastoma A neuroblastoma arising from the peripheral nervous system. MONDO:0002749|MONDO:0021089 +MONDO:0857807 benign mediastinal soft tissue neoplasm NCIT:C6593 MONDO:equivalentTo Benign Mediastinal Soft Tissue Neoplasm A mesenchymal neoplasm that arises from the mediastinum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include lipoma, leiomyoma, and rhabdomyoma. MONDO:0021521|MONDO:0003512|MONDO:0044335 +MONDO:0857810 soft tissue fibrosarcoma NCIT:C6605 MONDO:equivalentTo Soft Tissue Fibrosarcoma A usually aggressive malignant neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. MONDO:0018078|MONDO:0005164 +MONDO:0857811 mediastinal malignant peripheral nerve sheath tumor NCIT:C6626 MONDO:equivalentTo Mediastinal Malignant Peripheral Nerve Sheath Tumor A malignant peripheral nerve sheath tumor that arises from the mediastinum. It may be associated with neurofibromatosis. It often spreads to the lungs or pleura. MONDO:0003098|MONDO:0002852|MONDO:0017827 +MONDO:0857812 mediastinal ganglioneuroma NCIT:C6632 MONDO:equivalentTo Mediastinal Ganglioneuroma A ganglioneuroma arising from the mediastinum. MONDO:0021521|MONDO:0003098|MONDO:0005033 +MONDO:0857813 mediastinal hodgkin lymphoma NCIT:C6634 MONDO:equivalentTo Mediastinal Hodgkin Lymphoma A Hodgkin lymphoma that arises from the mediastinum. It usually involves mediastinal lymph nodes and/or the thymus. Signs and symptoms include fever, weight loss, fatigue, and night sweats. MONDO:0004021|MONDO:0004952 +MONDO:0857814 stage 1 neuroblastoma NCIT:C6638 MONDO:equivalentTo Stage 1 Neuroblastoma Localized tumor with complete gross excision, with or without microscopic residual disease; representative ipsilateral lymph nodes negative for tumor microscopically. (cancer.gov) MONDO:0005072 +MONDO:0857815 stage 2 neuroblastoma NCIT:C6639 MONDO:equivalentTo Stage 2 Neuroblastoma Stage 2 includes stage 2A and stage 2B. Stage 2A: Localized tumor with incomplete gross excision; representative ipsilateral nonadherent lymph nodes negative for tumor microscopically. Stage 2B: Localized tumor with or without complete gross excision, with ipsilateral nonadherent lymph nodes positive for tumor. Enlarged contralateral lymph nodes must be negative microscopically. (cancer.gov) MONDO:0005072 +MONDO:0857816 stage 3 neuroblastoma NCIT:C6640 MONDO:equivalentTo Stage 3 Neuroblastoma Unresectable unilateral tumor infiltrating across the midline, with or without regional lymph node involvement; or localized unilateral tumor with contralateral regional lymph node involvement; or midline tumor with bilateral extension by infiltration (unresectable) or by lymph node involvement. The midline is defined as the vertebral column. Tumors originating on one side and crossing the midline must infiltrate to or beyond the opposite side of the vertebral column. (cancer.gov) MONDO:0005072 +MONDO:0857817 stage 4 neuroblastoma NCIT:C6641 MONDO:equivalentTo Stage 4 Neuroblastoma Any primary tumor with dissemination to distant lymph nodes, bone, bone marrow, liver, skin, and/or other organs, except as defined for stage 4S. (cancer.gov) MONDO:0005072 +MONDO:0857821 breast atypical medullary carcinoma NCIT:C66719 MONDO:equivalentTo Breast Atypical Medullary Carcinoma An invasive ductal breast carcinoma characterized by the presence of a predominantly syncytial architectural pattern. It may have some, but not all the strictly defined additional morphologic criteria which are necessary for the diagnosis of medullary breast carcinoma (presence of a diffuse lymphoplasmacytic infiltrate, neoplastic round cells with abundant cytoplasm and vesicular nuclei, complete histological circumscription, and absence of glandular or tubular structures). It does not have the relatively favorable outcome that characterizes medullary breast carcinoma. MONDO:0004953 +MONDO:0857822 adenocarcinoma with neuroendocrine differentiation NCIT:C66745 MONDO:equivalentTo Adenocarcinoma with Neuroendocrine Differentiation An invasive adenocarcinoma characterized by the presence of focal or extensive neuroendocrine differentiation. MONDO:0004970 +MONDO:0857823 testicular sex cord-stromal tumor, not otherwise specified NCIT:C66748 MONDO:equivalentTo Testicular Sex Cord-Stromal Tumor, Not Otherwise Specified A sex cord-stromal tumor of the testis in which the neoplastic cells do not show specific differentiation. MONDO:0003125 +MONDO:0857824 ovarian stromal tumor with minor sex cord elements NCIT:C66749 MONDO:equivalentTo Ovarian Stromal Tumor with Minor Sex Cord Elements A rare, benign sex cord-stromal tumor of the ovary characterized by the presence of a fibrothecomatous stroma and scattered sex cord elements. Although it is usually hormonally inactive, cases associated with endometrial hyperplasia or adenocarcinoma have been reported. MONDO:0021657 +MONDO:0857825 adult granulosa cell tumor NCIT:C66750 MONDO:equivalentTo Adult Granulosa Cell Tumor A low-grade malignant sex cord-stromal tumor occurring in the ovary and rarely in the testis. It is composed of granulosa cells in an often fibrothecomatous stroma. The neoplastic cells may form various patterns including the microfollicular, which is characterized by the presence of Call-Exner bodies, macrofollicular, insular, trabecular, and diffuse pattern. In females, it affects middle aged to post-menopausal women. Signs and symptoms include abdominal mass, hemoperitoneum, and ascites. Estrogenic and rarely androgenic manifestations may be present. The vast majority of cases present as stage I tumors; however, all tumors have a potential for aggressive clinical course. In males, it is reported in the age range of 16-76 years and the average age at presentation is 44 years. A minority of patients have gynecomastia. Metastases have been reported in a minority of patients. MONDO:0006036 +MONDO:0857826 melanoma in precancerous melanosis NCIT:C66753 MONDO:equivalentTo Melanoma in Precancerous Melanosis A melanoma arising from an atypical intraepithelial melanocytic hyperplasia. MONDO:0005012 +MONDO:0857827 small congenital melanocytic nevus NCIT:C66754 MONDO:equivalentTo Small Congenital Melanocytic Nevus A congenital melanocytic nevus of small size, with a diameter smaller than 15 mm. It presents as a macular, papular or plaque-like lesion. MONDO:0044792 +MONDO:0857828 proliferative nodules in congenital melanocytic nevus NCIT:C66755 MONDO:equivalentTo Proliferative Nodules in Congenital Melanocytic Nevus A benign proliferation of epithelioid or spindled melanocytes usually in the upper or mid dermis in a background of congenital melanocytic nevus. The congenital melanocytic nevus is usually of the deep type, involving the dermis and extending into the subcutaneous tissue. It presents as a dark plaque or nodule above a giant congenital melanocytic nevus. MONDO:0044792 +MONDO:0857829 periosteal fibroma NCIT:C66761 MONDO:equivalentTo Periosteal Fibroma A benign fibrous neoplasm arising from the periosteal connective tissue that surrounds a bone. MONDO:0000631|MONDO:0005167 +MONDO:0857830 fascial fibroma NCIT:C66764 MONDO:equivalentTo Fascial Fibroma A benign fibrous tumor arising from the fascial connective tissue. MONDO:0005167 +MONDO:0857831 fascial fibrosarcoma NCIT:C66765 MONDO:equivalentTo Fascial Fibrosarcoma A malignant fibroblastic neoplasm arising from the fascial connective tissue. MONDO:0005164 +MONDO:0857834 choriocarcinoma combined with other germ cell elements NCIT:C66777 MONDO:equivalentTo Choriocarcinoma Combined with Other Germ Cell Elements A malignant mixed germ cell tumor characterized by the presence of a choriocarcinomatous component admixed with another germ cell component (e.g. embryonal carcinoma, teratoma, or seminoma). MONDO:0015864|MONDO:0005853 +MONDO:0857835 hemolymphangioma NCIT:C66792 MONDO:equivalentTo Hemolymphangioma A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis. MONDO:0002013 +MONDO:0857836 ganglioneuromatosis NCIT:C66804 MONDO:equivalentTo Ganglioneuromatosis Extensive and diffuse infiltration of tissues by ganglioneuroma. MONDO:0005033 +MONDO:0857837 ciliary body benign medulloepithelioma NCIT:C66807 MONDO:equivalentTo Ciliary Body Benign Medulloepithelioma A rare, unilateral, benign embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium. MONDO:0021486|MONDO:0017050 +MONDO:0857838 ciliary body teratoid medulloepithelioma NCIT:C66810 MONDO:equivalentTo Ciliary Body Teratoid Medulloepithelioma A rare, unilateral, benign or malignant embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium and contains heterologous elements, particularly cartilage, skeletal muscle, and brain tissue. MONDO:0017050 +MONDO:0857839 retinocytoma NCIT:C66812 MONDO:equivalentTo Retinocytoma A rare, unilateral or bilateral benign neoplasm that arises from the retina. There is an increased risk of malignant transformation to retinoblastoma; therefore, patients with a diagnosis of retinocytoma should be closely observed. MONDO:0021453|MONDO:0024341 +MONDO:0857840 differentiated retinoblastoma NCIT:C66813 MONDO:equivalentTo Differentiated Retinoblastoma A retinoblastoma with well differentiated features. It often produces Flexner-Wintersteiner rosettes or Homer-Wright rosettes. In some cases the tumor cells form fleurettes. MONDO:0008380 +MONDO:0857841 undifferentiated retinoblastoma NCIT:C66814 MONDO:equivalentTo Undifferentiated Retinoblastoma A retinoblastoma composed of small, undifferentiated cells. It is often associated with necrotic changes. MONDO:0008380 +MONDO:0857842 diffuse retinoblastoma NCIT:C66815 MONDO:equivalentTo Diffuse Retinoblastoma A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy. MONDO:0008380 +MONDO:0857844 melanotic neurofibroma NCIT:C66841 MONDO:equivalentTo Melanotic Neurofibroma A rare neurofibroma characterized by the presence of melanin-laden cells and the absence of atypia. MONDO:0016755 +MONDO:0857846 testicular mixed sex cord-stromal tumor NCIT:C66991 MONDO:equivalentTo Testicular Mixed Sex Cord-Stromal Tumor A sex cord-stromal tumor of the testis which may contain any combination of cell types, for example Sertoli cells, Leydig cells, and granulosa cells. Symptoms include testicular swelling and gynecomastia. MONDO:0003125 +MONDO:0857847 pyriform fossa carcinoma NCIT:C6700 MONDO:equivalentTo Pyriform Fossa Carcinoma A carcinoma that arises from the pyriform sinus. Patients usually present with advanced stage disease and the prognosis is poor. MONDO:0005216 +MONDO:0857848 ovarian serous adenocarcinofibroma NCIT:C67092 MONDO:equivalentTo Ovarian Serous Adenocarcinofibroma A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns. MONDO:0024885|MONDO:0002991 +MONDO:0857849 sternal chondromyxoid fibroma NCIT:C6714 MONDO:equivalentTo Sternal Chondromyxoid Fibroma An uncommon benign cartilaginous neoplasm arising from the sternum. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. MONDO:0021456|MONDO:0018447 +MONDO:0857850 olfactory neurogenic tumor NCIT:C67155 MONDO:equivalentTo Olfactory Neurogenic Tumor A rare, benign (olfactory neurocytoma) or malignant (olfactory neuroblastoma) neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity. MONDO:0002722 +MONDO:0857852 nodular sclerosis classic hodgkin lymphoma, cellular phase NCIT:C67171 MONDO:equivalentTo Nodular Sclerosis Classic Hodgkin Lymphoma, Cellular Phase A nodular sclerosis Hodgkin lymphoma characterized by the presence of lacunar cells, nodular growth, and the absence of fibrosis. MONDO:0004665 +MONDO:0857853 sternal intraosseous schwannoma NCIT:C6718 MONDO:equivalentTo Sternal Intraosseous Schwannoma A rare schwannoma that arises from the sternum. MONDO:0021456|MONDO:0004820 +MONDO:0857854 peripheral primitive neuroectodermal tumor of the kidney NCIT:C67214 MONDO:equivalentTo Peripheral Primitive Neuroectodermal Tumor of the Kidney A small round cell tumor with neural differentiation arising from the kidney. MONDO:0018271|MONDO:0002367 +MONDO:0857855 chest wall hodgkin lymphoma NCIT:C6723 MONDO:equivalentTo Chest Wall Hodgkin Lymphoma A Hodgkin lymphoma that affects the structures of the chest wall. MONDO:0003985|MONDO:0004952 +MONDO:0857858 benign glomus tumor NCIT:C6748 MONDO:equivalentTo Benign Glomus Tumor A glomus tumor of small size characterized by the absence of nuclear atypia and mitotic activity. MONDO:0003342|MONDO:0018327 +MONDO:0857859 malignant sex cord-stromal tumor NCIT:C67561 MONDO:equivalentTo Malignant Sex Cord-Stromal Tumor A gonadal sex cord-stromal tumor with malignant characteristics. It includes the poorly differentiated ovarian Sertoli-Leydig cell tumor, malignant ovarian granulosa cell tumor, malignant ovarian steroid cell tumor, and malignant ovarian thecoma. MONDO:0002149|MONDO:0006055 +MONDO:0857860 myxoid leiomyoma NCIT:C67563 MONDO:equivalentTo Myxoid Leiomyoma A leiomyoma characterized by the presence of abundant myxoid matrix. MONDO:0001572 +MONDO:0857862 stromal neoplasm NCIT:C6781 MONDO:equivalentTo Stromal Neoplasm A benign or malignant mesenchymal neoplasm composed of stromal cells. Representative examples include gastrointestinal stromal tumor, endometrial stromal sarcoma, and prostate stromal sarcoma. MONDO:0002616|MONDO:0006424 +MONDO:0857864 benign apocrine neoplasm NCIT:C6799 MONDO:equivalentTo Benign Apocrine Neoplasm An epithelial neoplasm that arises from the apocrine glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021489|MONDO:0003686 +MONDO:0857866 benign external ear neoplasm NCIT:C6807 MONDO:equivalentTo Benign External Ear Neoplasm A neoplasm that arises from the external ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include ceruminous adenoma, polyp, and lipoma. MONDO:0021235|MONDO:0021474 +MONDO:0857867 prostate ductal adenocarcinoma NCIT:C6813 MONDO:equivalentTo Prostate Ductal Adenocarcinoma A usually aggressive invasive adenocarcinoma of the prostate gland composed of large glands containing tall columnar cells. The columnar cells have abundant cytoplasm and are reminiscent of endometrial carcinoma. This type of adenocarcinoma has a tendency to metastasize to the lung and penis. MONDO:0005082 +MONDO:0857872 kadish stage a olfactory neuroblastoma NCIT:C6853 MONDO:equivalentTo Kadish Stage A Olfactory Neuroblastoma An olfactory neuroblastoma that is confined to the nasal cavity MONDO:0006329 +MONDO:0857873 kadish stage b olfactory neuroblastoma NCIT:C6854 MONDO:equivalentTo Kadish Stage B Olfactory Neuroblastoma An olfactory neuroblastoma that involves the nasal cavity and paranasal sinuses. MONDO:0006329 +MONDO:0857874 oropharyngeal undifferentiated carcinoma NCIT:C68610 MONDO:equivalentTo Oropharyngeal Undifferentiated Carcinoma A non-keratinizing carcinoma arising from the oropharynx. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate. MONDO:0003572|MONDO:0044704 +MONDO:0857876 childhood extracranial germ cell tumor NCIT:C68627 MONDO:equivalentTo Childhood Extracranial Germ Cell Tumor A childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain. MONDO:0003751 +MONDO:0857879 childhood extragonadal malignant germ cell tumor NCIT:C68632 MONDO:equivalentTo Childhood Extragonadal Malignant Germ Cell Tumor A malignant germ cell tumor in children arising from an anatomic site other than the testis or ovary. MONDO:0003113|MONDO:0004479 +MONDO:0857881 adrenal cortical low grade carcinoma NCIT:C68635 MONDO:equivalentTo Adrenal Cortical Low Grade Carcinoma A carcinoma that arises from the adrenal cortex and is characterized by the presence of twenty or less mitoses per ten square millimeters. MONDO:0006639 +MONDO:0857882 adrenal cortical sarcomatoid carcinoma NCIT:C68644 MONDO:equivalentTo Adrenal Cortical Sarcomatoid Carcinoma A carcinoma that arises from the adrenal cortex and is characterized by the partial or complete loss of adrenal cortical differentiation. MONDO:0006406|MONDO:0006639 MONDO:0857884 hodgkin lymphoma by clinical course NCIT:C68666 MONDO:equivalentTo Hodgkin Lymphoma by Clinical Course MONDO:0004952 -MONDO:0857892 adult gliosarcoma NCIT:C68701 MONDO:equivalentTo Adult Gliosarcoma MONDO:0020690|MONDO:0016681 -MONDO:0857893 adult giant cell glioblastoma NCIT:C68702 MONDO:equivalentTo Adult Giant Cell Glioblastoma MONDO:0020690|MONDO:0016682 -MONDO:0857895 pancreatic mixed acinar carcinoma-neuroendocrine carcinoma NCIT:C6878 MONDO:equivalentTo Pancreatic Mixed Acinar Carcinoma-Neuroendocrine Carcinoma MONDO:0044727 -MONDO:0857896 cellular fibroma NCIT:C6892 MONDO:equivalentTo Cellular Fibroma MONDO:0005167 -MONDO:0857897 malignant solitary fibrous tumor NCIT:C6894 MONDO:equivalentTo Malignant Solitary Fibrous Tumor MONDO:0016238|MONDO:0004992 -MONDO:0857899 atypical burkitt/burkitt-like lymphoma NCIT:C6917 MONDO:equivalentTo Atypical Burkitt/Burkitt-Like Lymphoma MONDO:0007243 -MONDO:0857900 acute myeloid leukemia with a variant kmt2a rearrangement NCIT:C6924 MONDO:equivalentTo Acute Myeloid Leukemia with a Variant KMT2A Rearrangement MONDO:0100404 -MONDO:0857901 malignant ovarian thecoma NCIT:C6929 MONDO:equivalentTo Malignant Ovarian Thecoma MONDO:0018172|MONDO:0037253 -MONDO:0857902 solitary plasmacytoma NCIT:C6932 MONDO:equivalentTo Solitary Plasmacytoma MONDO:0005615 -MONDO:0857903 deep (aggressive) angiomyxoma NCIT:C6936 MONDO:equivalentTo Deep (Aggressive) Angiomyxoma MONDO:0006086 -MONDO:0857904 cardiac fibroma NCIT:C6947 MONDO:equivalentTo Cardiac Fibroma MONDO:0021450|MONDO:0005167 -MONDO:0857906 anaplastic kidney wilms tumor NCIT:C6952 MONDO:equivalentTo Anaplastic Kidney Wilms Tumor MONDO:0019004|MONDO:0020633 -MONDO:0857907 simple endometrial hyperplasia with atypia NCIT:C6991 MONDO:equivalentTo Simple Endometrial Hyperplasia with Atypia MONDO:0006410 -MONDO:0857910 central nervous system kaposi sarcoma NCIT:C7006 MONDO:equivalentTo Central Nervous System Kaposi Sarcoma MONDO:0005055|MONDO:0002217 -MONDO:0857913 central nervous system inflammatory myofibroblastic tumor NCIT:C7020 MONDO:equivalentTo Central Nervous System Inflammatory Myofibroblastic Tumor MONDO:0015798|MONDO:0003244 +MONDO:0857892 adult gliosarcoma NCIT:C68701 MONDO:equivalentTo Adult Gliosarcoma A gliosarcoma occurring in adults. MONDO:0020690|MONDO:0016681 +MONDO:0857893 adult giant cell glioblastoma NCIT:C68702 MONDO:equivalentTo Adult Giant Cell Glioblastoma A giant cell glioblastoma occurring in adults. MONDO:0016682|MONDO:0020690 +MONDO:0857895 pancreatic mixed acinar carcinoma-neuroendocrine carcinoma NCIT:C6878 MONDO:equivalentTo Pancreatic Mixed Acinar Carcinoma-Neuroendocrine Carcinoma A carcinoma that arises from the pancreas and is composed of acinar carcinoma and neuroendocrine carcinoma components in both the primary tumor and the metastatic sites. MONDO:0044727 +MONDO:0857896 cellular fibroma NCIT:C6892 MONDO:equivalentTo Cellular Fibroma A morphologic variant of fibroma characterized by increased cellularity. MONDO:0005167 +MONDO:0857897 malignant solitary fibrous tumor NCIT:C6894 MONDO:equivalentTo Malignant Solitary Fibrous Tumor A malignant neoplasm of probable fibroblastic derivation. It is characterized by the presence of atypical round to spindle-shaped cells, increased cellularity, necrotic change and high mitotic activity. MONDO:0016238|MONDO:0004992 +MONDO:0857899 atypical burkitt/burkitt-like lymphoma NCIT:C6917 MONDO:equivalentTo Atypical Burkitt/Burkitt-Like Lymphoma A morphologic variant of Burkitt lymphoma characterized by marked nuclear pleomorphism, abundant apoptotic debris, and the presence of tangible body macrophages. MONDO:0007243 +MONDO:0857900 acute myeloid leukemia with a variant kmt2a rearrangement NCIT:C6924 MONDO:equivalentTo Acute Myeloid Leukemia with a Variant KMT2A Rearrangement A term referring to acute myeloid leukemias with rearrangement of the KMT2A gene that results in translocations with various genes other than the MLLT3 (AF9) gene. MONDO:0100404 +MONDO:0857901 malignant ovarian thecoma NCIT:C6929 MONDO:equivalentTo Malignant Ovarian Thecoma A thecoma of the ovary which may metastasize to another anatomic site. It is usually characterized by nuclear atypia and mitotic activity. Malignant thecomas are rare. MONDO:0018172|MONDO:0037253 +MONDO:0857902 solitary plasmacytoma NCIT:C6932 MONDO:equivalentTo Solitary Plasmacytoma A localized malignant neoplasm that arises in the bony skeleton or soft tissue. It is composed of clonal (malignant) plasma cells forming a tumor mass. MONDO:0005615 +MONDO:0857903 deep (aggressive) angiomyxoma NCIT:C6936 MONDO:equivalentTo Deep (Aggressive) Angiomyxoma A locally infiltrating, non-metastasizing angiomyxoma arising from the pelviperineal region. It may recur following resection MONDO:0006086 +MONDO:0857904 cardiac fibroma NCIT:C6947 MONDO:equivalentTo Cardiac Fibroma A rare benign heart neoplasm usually occurring in young children. It is characterized by the presence of bland spindle cells and collagenous stroma formation. Clinical presentation may include cardiac arrhythmia, cyanosis, heart failure or sudden death. MONDO:0005167|MONDO:0021450 +MONDO:0857906 anaplastic kidney wilms tumor NCIT:C6952 MONDO:equivalentTo Anaplastic Kidney Wilms Tumor Wilms tumor of the kidney characterized by the presence of nuclear anaplasia. Anaplasia is defined by the presence of all of the following: multipolar polyploid mitotic figures, marked nuclear enlargement, and hyperchromasia. When anaplasia is diffuse, it is associated with an unfavorable clinical outcome. MONDO:0020633|MONDO:0019004 +MONDO:0857907 simple endometrial hyperplasia with atypia NCIT:C6991 MONDO:equivalentTo Simple Endometrial Hyperplasia with Atypia A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present. MONDO:0006410 +MONDO:0857910 central nervous system kaposi sarcoma NCIT:C7006 MONDO:equivalentTo Central Nervous System Kaposi Sarcoma A Kaposi sarcoma arising from the brain, spinal cord, or meninges. MONDO:0002217|MONDO:0005055 +MONDO:0857913 central nervous system inflammatory myofibroblastic tumor NCIT:C7020 MONDO:equivalentTo Central Nervous System Inflammatory Myofibroblastic Tumor A multinodular intermediate fibroblastic neoplasm affecting the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. MONDO:0015798|MONDO:0003244 MONDO:0857918 meningioma by site NCIT:C7051 MONDO:equivalentTo Meningioma by Site MONDO:0016642 -MONDO:0857919 mature b-cell non-hodgkin lymphoma NCIT:C7056 MONDO:equivalentTo Mature B-Cell Non-Hodgkin Lymphoma MONDO:0015759|MONDO:0004949 -MONDO:0857921 neoplasm by special category NCIT:C7062 MONDO:equivalentTo Neoplasm by Special Category MONDO:0005070 -MONDO:0857925 megakaryocytic neoplasm NCIT:C7066 MONDO:equivalentTo Megakaryocytic Neoplasm MONDO:0005170|MONDO:0021138 -MONDO:0857926 prostate cancer by whitmore-jewett stage NCIT:C7079 MONDO:equivalentTo Prostate Cancer by Whitmore-Jewett Stage MONDO:0005159 -MONDO:0857931 metastatic non-cutaneous melanoma NCIT:C7092 MONDO:equivalentTo Metastatic Non-Cutaneous Melanoma MONDO:0005191|MONDO:0006320 -MONDO:0857935 teratoid hepatoblastoma NCIT:C7098 MONDO:equivalentTo Teratoid Hepatoblastoma MONDO:0003650 -MONDO:0857937 adult pilocytic astrocytoma NCIT:C71016 MONDO:equivalentTo Adult Pilocytic Astrocytoma MONDO:0002503|MONDO:0016691 -MONDO:0857940 liver non-epithelial neoplasm NCIT:C7107 MONDO:equivalentTo Liver Non-Epithelial Neoplasm MONDO:0024477 -MONDO:0857943 stage i liver cancer NCIT:C7116 MONDO:equivalentTo Stage I Liver Cancer MONDO:0018531 -MONDO:0857944 stage ii liver cancer NCIT:C7117 MONDO:equivalentTo Stage II Liver Cancer MONDO:0018531 -MONDO:0857945 stage iii liver cancer NCIT:C7118 MONDO:equivalentTo Stage III Liver Cancer MONDO:0018531 -MONDO:0857946 stage iv liver cancer NCIT:C7121 MONDO:equivalentTo Stage IV Liver Cancer MONDO:0018531 -MONDO:0857947 intrahepatic bile duct microcystic adenoma NCIT:C7127 MONDO:equivalentTo Intrahepatic Bile Duct Microcystic Adenoma MONDO:0003444|MONDO:0003435 -MONDO:0857948 gallbladder benign non-epithelial neoplasm NCIT:C7129 MONDO:equivalentTo Gallbladder Benign Non-Epithelial Neoplasm MONDO:0021503 -MONDO:0857950 childhood grade 2 meningioma NCIT:C71301 MONDO:equivalentTo Childhood Grade 2 Meningioma MONDO:0003057|MONDO:0045056 -MONDO:0857952 ovarian sertoli cell tumor NCIT:C7133 MONDO:equivalentTo Ovarian Sertoli Cell Tumor MONDO:0002696|MONDO:0020807 -MONDO:0857961 benign fibroblastic neoplasm NCIT:C7147 MONDO:equivalentTo Benign Fibroblastic Neoplasm MONDO:0006209|MONDO:0044335 -MONDO:0857962 soft tissue tumor of uncertain differentiation NCIT:C7148 MONDO:equivalentTo Soft Tissue Tumor of Uncertain Differentiation MONDO:0006424 -MONDO:0857963 monoclonal immunoglobulin deposition disease NCIT:C7151 MONDO:equivalentTo Monoclonal Immunoglobulin Deposition Disease MONDO:0004949 -MONDO:0857964 erythroleukemia NCIT:C7152 MONDO:equivalentTo Erythroleukemia MONDO:0017858 -MONDO:0857965 primary central chondrosarcoma NCIT:C7155 MONDO:equivalentTo Primary Central Chondrosarcoma MONDO:0008977|MONDO:0021054 -MONDO:0857966 benign dermal neoplasm NCIT:C7158 MONDO:equivalentTo Benign Dermal Neoplasm MONDO:0002300|MONDO:0021440 -MONDO:0857967 grade 1 nodular sclerosis classic hodgkin lymphoma NCIT:C7165 MONDO:equivalentTo Grade 1 Nodular Sclerosis Classic Hodgkin Lymphoma MONDO:0004665 -MONDO:0857968 grade 2 nodular sclerosis classic hodgkin lymphoma NCIT:C7166 MONDO:equivalentTo Grade 2 Nodular Sclerosis Classic Hodgkin Lymphoma MONDO:0004665 -MONDO:0857971 adult diffuse astrocytoma NCIT:C7174 MONDO:equivalentTo Adult Diffuse Astrocytoma MONDO:0004320|MONDO:0016686 -MONDO:0857972 spindle cell/pleomorphic lipoma NCIT:C7180 MONDO:equivalentTo Spindle Cell/Pleomorphic Lipoma MONDO:0005106 -MONDO:0857973 classical burkitt lymphoma NCIT:C7188 MONDO:equivalentTo Classical Burkitt Lymphoma MONDO:0007243 -MONDO:0857974 burkitt lymphoma with plasmacytoid differentiation NCIT:C7189 MONDO:equivalentTo Burkitt Lymphoma with Plasmacytoid Differentiation MONDO:0007243 -MONDO:0857975 type b lymphomatoid papulosis NCIT:C7198 MONDO:equivalentTo Type B Lymphomatoid Papulosis MONDO:0020326 -MONDO:0857976 lymphoepithelioid variant peripheral t-cell lymphoma, not otherwise specified NCIT:C7205 MONDO:equivalentTo Lymphoepithelioid Variant Peripheral T-Cell Lymphoma, Not Otherwise Specified MONDO:0004964 -MONDO:0857977 common variant anaplastic large cell lymphoma NCIT:C7206 MONDO:equivalentTo Common Variant Anaplastic Large Cell Lymphoma MONDO:0020325 -MONDO:0857978 lymphohistiocytic variant anaplastic large cell lymphoma NCIT:C7207 MONDO:equivalentTo Lymphohistiocytic Variant Anaplastic Large Cell Lymphoma MONDO:0020325 +MONDO:0857919 mature b-cell non-hodgkin lymphoma NCIT:C7056 MONDO:equivalentTo Mature B-Cell Non-Hodgkin Lymphoma A non-Hodgkin lymphoma that originates from mature B lymphocytes. Representative examples include diffuse large B-cell lymphoma, follicular lymphoma, marginal zone lymphoma, mantle cell lymphoma, and small lymphocytic lymphoma. MONDO:0004949|MONDO:0015759 +MONDO:0857921 neoplasm by special category NCIT:C7062 MONDO:equivalentTo Neoplasm by Special Category A neoplasm defined by its unique characteristic as they apply to clinical presentation and course, morphologic patterns, frequency, and/or age distribution. MONDO:0005070 +MONDO:0857925 megakaryocytic neoplasm NCIT:C7066 MONDO:equivalentTo Megakaryocytic Neoplasm A neoplasm affecting cells of the megakaryocytic lineage. MONDO:0005170|MONDO:0021138 +MONDO:0857926 prostate cancer by whitmore-jewett stage NCIT:C7079 MONDO:equivalentTo Prostate Cancer by Whitmore-Jewett Stage A term that refers to the staging of prostate carcinoma according to the Whitmore-Jewett staging system. MONDO:0005159 +MONDO:0857931 metastatic non-cutaneous melanoma NCIT:C7092 MONDO:equivalentTo Metastatic Non-Cutaneous Melanoma A non-cutaneous melanoma that has spread from its original site of growth to another anatomic site. MONDO:0005191|MONDO:0006320 +MONDO:0857935 teratoid hepatoblastoma NCIT:C7098 MONDO:equivalentTo Teratoid Hepatoblastoma A mixed epithelial and mesenchymal hepatoblastoma characterized by the presence of heterologous elements. The latter include neuroectoderm, endoderm, or melanin-holding cells. Muscle, cartilage and osteoid may or may not be present. MONDO:0003650 +MONDO:0857937 adult pilocytic astrocytoma NCIT:C71016 MONDO:equivalentTo Adult Pilocytic Astrocytoma A pilocytic astrocytoma occurring in adults. MONDO:0002503|MONDO:0016691 +MONDO:0857940 liver non-epithelial neoplasm NCIT:C7107 MONDO:equivalentTo Liver Non-Epithelial Neoplasm A benign or malignant non-epithelial neoplasm that affects the liver. MONDO:0024477 +MONDO:0857943 stage i liver cancer NCIT:C7116 MONDO:equivalentTo Stage I Liver Cancer Stage I carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0018531 +MONDO:0857944 stage ii liver cancer NCIT:C7117 MONDO:equivalentTo Stage II Liver Cancer Stage II carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0018531 +MONDO:0857945 stage iii liver cancer NCIT:C7118 MONDO:equivalentTo Stage III Liver Cancer Stage III carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0018531 +MONDO:0857946 stage iv liver cancer NCIT:C7121 MONDO:equivalentTo Stage IV Liver Cancer Stage IV carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0018531 +MONDO:0857947 intrahepatic bile duct microcystic adenoma NCIT:C7127 MONDO:equivalentTo Intrahepatic Bile Duct Microcystic Adenoma An adenoma that arises from the intrahepatic bile ducts and it is characterized by the presence of microcystic changes. MONDO:0003444|MONDO:0003435 +MONDO:0857948 gallbladder benign non-epithelial neoplasm NCIT:C7129 MONDO:equivalentTo Gallbladder Benign Non-Epithelial Neoplasm A non-epithelial neoplasm that arises from the gallbladder and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include leiomyoma, lipoma, and neurofibroma. MONDO:0021503 +MONDO:0857950 childhood grade 2 meningioma NCIT:C71301 MONDO:equivalentTo Childhood Grade 2 Meningioma A grade II meningioma that occurs during childhood. MONDO:0045056|MONDO:0003057 +MONDO:0857952 ovarian sertoli cell tumor NCIT:C7133 MONDO:equivalentTo Ovarian Sertoli Cell Tumor A rare, typically benign ovarian neoplasm composed of Sertoli cells. Patients may present with pseudoprecocity, menometrorrhagia, amenorrhea, hirsutism, and hoarseness. Rarely it may invade the ovarian stroma and extend beyond the ovary. MONDO:0002696|MONDO:0020807 +MONDO:0857961 benign fibroblastic neoplasm NCIT:C7147 MONDO:equivalentTo Benign Fibroblastic Neoplasm A benign mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts without malignant characteristics. MONDO:0044335|MONDO:0006209 +MONDO:0857962 soft tissue tumor of uncertain differentiation NCIT:C7148 MONDO:equivalentTo Soft Tissue Tumor of Uncertain Differentiation A benign,intermediate, or malignant soft tissue neoplasm in which the line of differentiation is uncertain. Representative examples include neoplasm with perivascular epithelioid cell differentiation, alveolar soft part sarcoma, desmoplastic small round cell tumor, epithelioid sarcoma, extraskeletal myxoid chondrosarcoma, and synovial sarcoma. MONDO:0006424 +MONDO:0857963 monoclonal immunoglobulin deposition disease NCIT:C7151 MONDO:equivalentTo Monoclonal Immunoglobulin Deposition Disease A mature B-cell neoplasm characterized by the deposition of immunoglobulin in tissues, resulting in impaired organ function. It includes the following entities: primary amyloidosis, heavy chain deposition disease, and light chain deposition disease. MONDO:0004949 +MONDO:0857964 erythroleukemia NCIT:C7152 MONDO:equivalentTo Erythroleukemia Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. MONDO:0017858 +MONDO:0857965 primary central chondrosarcoma NCIT:C7155 MONDO:equivalentTo Primary Central Chondrosarcoma A chondrosarcoma arising from the central portion of bone without a benign precursor. MONDO:0008977|MONDO:0021054 +MONDO:0857966 benign dermal neoplasm NCIT:C7158 MONDO:equivalentTo Benign Dermal Neoplasm A neoplasm that arises from the dermis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0002300|MONDO:0021440 +MONDO:0857967 grade 1 nodular sclerosis classic hodgkin lymphoma NCIT:C7165 MONDO:equivalentTo Grade 1 Nodular Sclerosis Classic Hodgkin Lymphoma Nodular sclerosis Hodgkin lymphoma in which at least 75% of the tumor nodules contain scattered Reed-Sternberg cells. The background cellular infiltrate is lymphocytic, mixed, or fibrohistiocytic. MONDO:0004665 +MONDO:0857968 grade 2 nodular sclerosis classic hodgkin lymphoma NCIT:C7166 MONDO:equivalentTo Grade 2 Nodular Sclerosis Classic Hodgkin Lymphoma Nodular sclerosis Hodgkin lymphoma in which at least 25% of the tumor nodules contain increased numbers of Reed-Sternberg cells. MONDO:0004665 +MONDO:0857971 adult diffuse astrocytoma NCIT:C7174 MONDO:equivalentTo Adult Diffuse Astrocytoma A low grade (WHO grade II) astrocytoma occurring during adulthood. It is characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of neighboring brain structures. MONDO:0016686|MONDO:0004320 +MONDO:0857972 spindle cell/pleomorphic lipoma NCIT:C7180 MONDO:equivalentTo Spindle Cell/Pleomorphic Lipoma A benign lipomatous neoplasm characterized by the presence of an admixture of mature adipose tissue and bland spindle cells. The pleomorphic variant contains in addition multinucleated giant cells. It usually arises in the neck and upper trunk in older males. MONDO:0005106 +MONDO:0857973 classical burkitt lymphoma NCIT:C7188 MONDO:equivalentTo Classical Burkitt Lymphoma A Burkitt lymphoma characterized by the presence of a uniform malignant lymphocytic infiltrate that is composed of medium-sized cells with round nuclei and multiple basophilic nucleoli, abundant mitotic figures, and a starry-sky pattern due to the presence of multiple tangible body macrophages. MONDO:0007243 +MONDO:0857974 burkitt lymphoma with plasmacytoid differentiation NCIT:C7189 MONDO:equivalentTo Burkitt Lymphoma with Plasmacytoid Differentiation Burkitt lymphoma characterized by the presence of malignant cells with eccentric basophilic cytoplasm. The nucleoli of these cells are often single and central. This morphologic variant of Burkitt lymphoma is more often seen in patients with immunodeficiency. MONDO:0007243 +MONDO:0857975 type b lymphomatoid papulosis NCIT:C7198 MONDO:equivalentTo Type B Lymphomatoid Papulosis A variant of lymphomatoid papulosis characterized by an epidermotropic infiltrate composed of small atypical cerebriform-like lymphocytes. MONDO:0020326 +MONDO:0857976 lymphoepithelioid variant peripheral t-cell lymphoma, not otherwise specified NCIT:C7205 MONDO:equivalentTo Lymphoepithelioid Variant Peripheral T-Cell Lymphoma, Not Otherwise Specified A variant of peripheral T-cell lymphoma, not otherwise specified. It is characterized by the presence of neoplastic small lymphocytes infiltrating the lymph nodes in a diffuse and less frequently interfollicular pattern. There is an associated proliferation of epithelioid histiocytes forming confluent clusters. MONDO:0004964 +MONDO:0857977 common variant anaplastic large cell lymphoma NCIT:C7206 MONDO:equivalentTo Common Variant Anaplastic Large Cell Lymphoma An anaplastic large cell lymphoma, characterized by CD30 positive lymphoid cells. MONDO:0020325 +MONDO:0857978 lymphohistiocytic variant anaplastic large cell lymphoma NCIT:C7207 MONDO:equivalentTo Lymphohistiocytic Variant Anaplastic Large Cell Lymphoma A histologic variant of anaplastic large cell lymphoma characterized by the presence of a large number of histiocytes admixed with the anaplastic lymphoma cells. MONDO:0020325 MONDO:0857981 non-hodgkin lymphoma by clinical course NCIT:C7215 MONDO:equivalentTo Non-Hodgkin Lymphoma by Clinical Course MONDO:0018908 -MONDO:0857982 primary cutaneous hodgkin lymphoma NCIT:C7221 MONDO:equivalentTo Primary Cutaneous Hodgkin Lymphoma MONDO:0004952|MONDO:0018898 -MONDO:0857984 blastoid variant mantle cell lymphoma NCIT:C7229 MONDO:equivalentTo Blastoid Variant Mantle Cell Lymphoma MONDO:0018876 -MONDO:0857995 follicular lymphoma with predominantly diffuse growth pattern NCIT:C7264 MONDO:equivalentTo Follicular Lymphoma with Predominantly Diffuse Growth Pattern MONDO:0018906 -MONDO:0857996 minimally invasive lung mucinous adenocarcinoma NCIT:C7268 MONDO:equivalentTo Minimally Invasive Lung Mucinous Adenocarcinoma MONDO:0004991 -MONDO:0857997 minimally invasive lung non-mucinous adenocarcinoma NCIT:C7269 MONDO:equivalentTo Minimally Invasive Lung Non-Mucinous Adenocarcinoma MONDO:0004991 -MONDO:0857998 ovarian dermoid cyst with secondary tumor NCIT:C7284 MONDO:equivalentTo Ovarian Dermoid Cyst with Secondary Tumor MONDO:0003331 -MONDO:0857999 ovarian granulosa-stromal cell tumor NCIT:C7287 MONDO:equivalentTo Ovarian Granulosa-Stromal Cell Tumor MONDO:0021657 -MONDO:0858001 malignant splenic soft tissue neoplasm NCIT:C7292 MONDO:equivalentTo Malignant Splenic Soft Tissue Neoplasm MONDO:0024637|MONDO:0005966 -MONDO:0858002 splenic manifestation of t-cell prolymphocytic leukemia NCIT:C7298 MONDO:equivalentTo Splenic Manifestation of T-Cell Prolymphocytic Leukemia MONDO:0002966|MONDO:0019468 -MONDO:0858003 splenic manifestation of b-cell prolymphocytic leukemia NCIT:C7299 MONDO:equivalentTo Splenic Manifestation of B-Cell Prolymphocytic Leukemia MONDO:0002966|MONDO:0019461 -MONDO:0858004 splenic manifestation of chronic lymphocytic leukemia NCIT:C7300 MONDO:equivalentTo Splenic Manifestation of Chronic Lymphocytic Leukemia MONDO:0004107|MONDO:0004948 -MONDO:0858005 splenic manifestation of t-cell large granular lymphocyte leukemia NCIT:C7302 MONDO:equivalentTo Splenic Manifestation of T-Cell Large Granular Lymphocyte Leukemia MONDO:0004107|MONDO:0019469 -MONDO:0858006 splenic manifestation of chronic myeloid leukemia, bcr-abl1 positive NCIT:C7303 MONDO:equivalentTo Splenic Manifestation of Chronic Myeloid Leukemia, BCR-ABL1 Positive MONDO:0004107|MONDO:0011996 -MONDO:0858007 splenic lymphoplasmacytic lymphoma NCIT:C7305 MONDO:equivalentTo Splenic Lymphoplasmacytic Lymphoma MONDO:0000432 -MONDO:0858008 splenic lymphoblastic lymphoma NCIT:C7312 MONDO:equivalentTo Splenic Lymphoblastic Lymphoma MONDO:0000873 -MONDO:0858010 acute monoblastic and monocytic leukemia NCIT:C7318 MONDO:equivalentTo Acute Monoblastic and Monocytic Leukemia MONDO:0015667 -MONDO:0858011 childhood chronic myeloid leukemia, bcr-abl1 positive NCIT:C7320 MONDO:equivalentTo Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive MONDO:0011996|MONDO:0004355 -MONDO:0858012 ovarian mixed germ cell-sex cord-stromal tumor NCIT:C7321 MONDO:equivalentTo Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor MONDO:0002478|MONDO:0021068 -MONDO:0858013 testicular mixed germ cell-sex cord-stromal tumor NCIT:C7322 MONDO:equivalentTo Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor MONDO:0002478|MONDO:0021348 -MONDO:0858016 reproductive endocrine neoplasm NCIT:C7335 MONDO:equivalentTo Reproductive Endocrine Neoplasm MONDO:0006054|MONDO:0002082|MONDO:0002259 -MONDO:0858017 high grade intraepithelial neoplasia NCIT:C7348 MONDO:equivalentTo High Grade Intraepithelial Neoplasia MONDO:0024474 -MONDO:0858019 cerebellar glioneuronal and neuronal tumors NCIT:C7372 MONDO:equivalentTo Cerebellar Glioneuronal and Neuronal Tumors MONDO:0016729|MONDO:0002913 -MONDO:0858020 benign vascular neoplasm NCIT:C7389 MONDO:equivalentTo Benign Vascular Neoplasm MONDO:0024296|MONDO:0000654 -MONDO:0858021 malignant vascular neoplasm NCIT:C7390 MONDO:equivalentTo Malignant Vascular Neoplasm MONDO:0024296|MONDO:0002100 +MONDO:0857982 primary cutaneous hodgkin lymphoma NCIT:C7221 MONDO:equivalentTo Primary Cutaneous Hodgkin Lymphoma Hodgkin lymphoma primarily involving the skin. This diagnosis can only be made when there is no evidence of Hodgkin lymphoma in the lymph nodes or other anatomic sites. Patients usually present with papules or nodular lesions. Morphologically, primary cutaneous Hodgkin lymphoma may resemble lymphomatoid papulosis or anaplastic large cell lymphoma. Immunohistochemical tissue evaluation is essential in establishing the diagnosis. MONDO:0018898|MONDO:0004952 +MONDO:0857984 blastoid variant mantle cell lymphoma NCIT:C7229 MONDO:equivalentTo Blastoid Variant Mantle Cell Lymphoma An aggressive mantle cell lymphoma characterized by the presence of neoplastic B-lymphocytes resembling lymphoblasts. MONDO:0018876 +MONDO:0857995 follicular lymphoma with predominantly diffuse growth pattern NCIT:C7264 MONDO:equivalentTo Follicular Lymphoma with Predominantly Diffuse Growth Pattern A lymphoma with the morphologic and immunophenotypic features of a follicular lymphoma characterized by the presence of a diffuse growth pattern with only focal and usually small micronodular foci. MONDO:0018906 +MONDO:0857996 minimally invasive lung mucinous adenocarcinoma NCIT:C7268 MONDO:equivalentTo Minimally Invasive Lung Mucinous Adenocarcinoma A morphologic variant of minimally invasive lung adenocarcinoma characterized by tall columnar cells and mucin production. MONDO:0004991 +MONDO:0857997 minimally invasive lung non-mucinous adenocarcinoma NCIT:C7269 MONDO:equivalentTo Minimally Invasive Lung Non-Mucinous Adenocarcinoma A morphologic variant of minimally invasive lung adenocarcinoma characterized by the presence of Clara cells and/or type II cells. MONDO:0004991 +MONDO:0857998 ovarian dermoid cyst with secondary tumor NCIT:C7284 MONDO:equivalentTo Ovarian Dermoid Cyst with Secondary Tumor An adult-type tumor that has derived from an ovarian dermoid cyst. Representative examples include dermoid cyst with secondary carcinoma, dermoid cyst with secondary sarcoma, and dermoid cyst with pituitary-type tumor. MONDO:0003331 +MONDO:0857999 ovarian granulosa-stromal cell tumor NCIT:C7287 MONDO:equivalentTo Ovarian Granulosa-Stromal Cell Tumor A group of sex cord-stromal tumors that arise from the ovary. These tumors are characterized by the presence of granulosa cells, stromal cells, and/or theca cells. This group includes granulosa cell tumor and tumors of the thecoma/fibroma group. MONDO:0021657 +MONDO:0858001 malignant splenic soft tissue neoplasm NCIT:C7292 MONDO:equivalentTo Malignant Splenic Soft Tissue Neoplasm A malignant mesenchymal neoplasm that arises from the spleen. MONDO:0005966|MONDO:0024637 +MONDO:0858002 splenic manifestation of t-cell prolymphocytic leukemia NCIT:C7298 MONDO:equivalentTo Splenic Manifestation of T-Cell Prolymphocytic Leukemia Infiltration and expansion of the white and red pulp of the spleen by T-cell prolymphocytic leukemia. MONDO:0002966|MONDO:0019468 +MONDO:0858003 splenic manifestation of b-cell prolymphocytic leukemia NCIT:C7299 MONDO:equivalentTo Splenic Manifestation of B-Cell Prolymphocytic Leukemia Infiltration and expansion of the white and red pulp of the spleen by B-cell prolymphocytic leukemia. MONDO:0002966|MONDO:0019461 +MONDO:0858004 splenic manifestation of chronic lymphocytic leukemia NCIT:C7300 MONDO:equivalentTo Splenic Manifestation of Chronic Lymphocytic Leukemia Infiltration of the spleen by chronic lymphocytic leukemia. It primarily involves the white pulp. MONDO:0004107|MONDO:0004948 +MONDO:0858005 splenic manifestation of t-cell large granular lymphocyte leukemia NCIT:C7302 MONDO:equivalentTo Splenic Manifestation of T-Cell Large Granular Lymphocyte Leukemia Infiltration and expansion of the red pulp cords and sinusoids of the spleen by T-cell large granular lymphocyte leukemia. The white pulp of the spleen is not involved and is often hyperplastic. MONDO:0004107|MONDO:0019469 +MONDO:0858006 splenic manifestation of chronic myeloid leukemia, bcr-abl1 positive NCIT:C7303 MONDO:equivalentTo Splenic Manifestation of Chronic Myeloid Leukemia, BCR-ABL1 Positive Infiltration and expansion of the red pulp and sinusoids of the spleen by chronic myeloid leukemia, BCR-ABL1 positive. MONDO:0011996|MONDO:0004107 +MONDO:0858007 splenic lymphoplasmacytic lymphoma NCIT:C7305 MONDO:equivalentTo Splenic Lymphoplasmacytic Lymphoma A lymphoplasmacytic lymphoma occurring in the spleen. MONDO:0000432 +MONDO:0858008 splenic lymphoblastic lymphoma NCIT:C7312 MONDO:equivalentTo Splenic Lymphoblastic Lymphoma Lymphoblastic lymphoma that affects the spleen. MONDO:0000873 +MONDO:0858010 acute monoblastic and monocytic leukemia NCIT:C7318 MONDO:equivalentTo Acute Monoblastic and Monocytic Leukemia Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features. MONDO:0015667 +MONDO:0858011 childhood chronic myeloid leukemia, bcr-abl1 positive NCIT:C7320 MONDO:equivalentTo Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive A chronic myeloid leukemia, BCR-ABL1 positive occurring during childhood. MONDO:0011996|MONDO:0004355 +MONDO:0858012 ovarian mixed germ cell-sex cord-stromal tumor NCIT:C7321 MONDO:equivalentTo Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor A neoplasm that arises from the ovary and is characterized by the presence of germ cell and sex cord-stromal tissues that are intimately admixed. If there is no malignant germ cell component present, the clinical course is benign. MONDO:0021068|MONDO:0002478 +MONDO:0858013 testicular mixed germ cell-sex cord-stromal tumor NCIT:C7322 MONDO:equivalentTo Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor A tumor that arises from the testis and is characterized by the presence of a neoplastic germ cell component and a neoplastic sex cord-stromal component. MONDO:0021348|MONDO:0002478 +MONDO:0858016 reproductive endocrine neoplasm NCIT:C7335 MONDO:equivalentTo Reproductive Endocrine Neoplasm A benign or malignant endocrine neoplasm that arises from the testis or the ovary. MONDO:0006054|MONDO:0002082|MONDO:0002259 +MONDO:0858017 high grade intraepithelial neoplasia NCIT:C7348 MONDO:equivalentTo High Grade Intraepithelial Neoplasia A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as grade II (moderate dysplasia) or grade III (severe dysplasia). MONDO:0024474 +MONDO:0858019 cerebellar glioneuronal and neuronal tumors NCIT:C7372 MONDO:equivalentTo Cerebellar Glioneuronal and Neuronal Tumors Glioneuronal and neuronal tumors occurring in the cerebellum. MONDO:0016729|MONDO:0002913 +MONDO:0858020 benign vascular neoplasm NCIT:C7389 MONDO:equivalentTo Benign Vascular Neoplasm A mesenchymal neoplasm that arises from vascular tissue usually of the skin. It is characterized by the presence of vascular channel formation and endothelial cells. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases. MONDO:0024296|MONDO:0000654 +MONDO:0858021 malignant vascular neoplasm NCIT:C7390 MONDO:equivalentTo Malignant Vascular Neoplasm A malignant neoplasm arising from the vascular tissue. It is characterized by vascular channel formation and malignant endothelial cells. MONDO:0024296|MONDO:0002100 MONDO:0858024 precancerous condition by site NCIT:C7422 MONDO:equivalentTo Precancerous Condition by Site -MONDO:0858025 oral cavity and lip precancerous condition NCIT:C7425 MONDO:equivalentTo Oral Cavity and Lip Precancerous Condition -MONDO:0858029 invasive papillary adenocarcinoma NCIT:C7438 MONDO:equivalentTo Invasive Papillary Adenocarcinoma MONDO:0040677|MONDO:0002512 -MONDO:0858030 benign myoepithelioma NCIT:C7442 MONDO:equivalentTo Benign Myoepithelioma MONDO:0044335|MONDO:0002380 -MONDO:0858036 pure erythroid leukemia NCIT:C7467 MONDO:equivalentTo Pure Erythroid Leukemia MONDO:0017858 -MONDO:0858037 anal extramucosal (perianal) adenocarcinoma NCIT:C7474 MONDO:equivalentTo Anal Extramucosal (Perianal) Adenocarcinoma MONDO:0002652 -MONDO:0858042 ameloblastic carcinoma-primary type NCIT:C7493 MONDO:equivalentTo Ameloblastic Carcinoma-Primary Type MONDO:0006079 -MONDO:0858043 ameloblastic carcinoma-secondary type (dedifferentiated) NCIT:C7496 MONDO:equivalentTo Ameloblastic Carcinoma-Secondary Type (Dedifferentiated) MONDO:0006079|MONDO:0024878 -MONDO:0858044 ameloblastic carcinoma derived from odontogenic cyst NCIT:C7497 MONDO:equivalentTo Ameloblastic Carcinoma Derived From Odontogenic Cyst MONDO:0006079|MONDO:0024878 -MONDO:0858045 primary intraosseous carcinoma, not otherwise specified, derived from odontogenic cyst NCIT:C7500 MONDO:equivalentTo Primary Intraosseous Carcinoma, Not Otherwise Specified, Derived from Odontogenic Cyst MONDO:0006385 -MONDO:0858049 metastatic malignant neoplasm in the breast NCIT:C7511 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Breast MONDO:0007254|MONDO:0024880 +MONDO:0858025 oral cavity and lip precancerous condition NCIT:C7425 MONDO:equivalentTo Oral Cavity and Lip Precancerous Condition A premalignant pathologic process that affects the mucosa surface of the oral cavity or lip. It includes leukoplakia, erythroplakia, and smoker's keratosis. +MONDO:0858029 invasive papillary adenocarcinoma NCIT:C7438 MONDO:equivalentTo Invasive Papillary Adenocarcinoma A carcinoma that has papillary growth and invades the wall and/or the surrounding tissues of the organ it originates from. MONDO:0040677|MONDO:0002512 +MONDO:0858030 benign myoepithelioma NCIT:C7442 MONDO:equivalentTo Benign Myoepithelioma A tumor with myoepithelial differentiation that lacks an infiltrative growth pattern and does not metastasize. MONDO:0002380|MONDO:0044335 +MONDO:0858036 pure erythroid leukemia NCIT:C7467 MONDO:equivalentTo Pure Erythroid Leukemia Acute erythroid leukemia characterized by the presence of immature erythroid cells in the bone marrow (at least 80% of the cellular component), without evidence of a significant myeloblastic cell population present. MONDO:0017858 +MONDO:0858037 anal extramucosal (perianal) adenocarcinoma NCIT:C7474 MONDO:equivalentTo Anal Extramucosal (Perianal) Adenocarcinoma An anal adenocarcinoma arising from the lining of an anorectal fistulous tract or the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. It usually presents as a submucosal tumor. MONDO:0002652 +MONDO:0858042 ameloblastic carcinoma-primary type NCIT:C7493 MONDO:equivalentTo Ameloblastic Carcinoma-Primary Type A rare, aggressive odontogenic malignant tumor that arises usually from the mandible and less frequently from the maxilla. It combines the histologic features of an ameloblastoma and carcinoma. MONDO:0006079 +MONDO:0858043 ameloblastic carcinoma-secondary type (dedifferentiated) NCIT:C7496 MONDO:equivalentTo Ameloblastic Carcinoma-Secondary Type (Dedifferentiated) A very rare ameloblastic carcinoma that originates from a pre-existing benign ameloblastoma. MONDO:0006079|MONDO:0024878 +MONDO:0858044 ameloblastic carcinoma derived from odontogenic cyst NCIT:C7497 MONDO:equivalentTo Ameloblastic Carcinoma Derived From Odontogenic Cyst A rare, aggressive malignant tumor that originates from an odontogenic cyst in the maxillomandibular region. It combines the histologic features of an ameloblastoma and carcinoma. MONDO:0006079|MONDO:0024878 +MONDO:0858045 primary intraosseous carcinoma, not otherwise specified, derived from odontogenic cyst NCIT:C7500 MONDO:equivalentTo Primary Intraosseous Carcinoma, Not Otherwise Specified, Derived from Odontogenic Cyst A rare primary intraosseous carcinoma, not otherwise specified, that arises from the lining of an odontogenic cyst. MONDO:0006385 +MONDO:0858049 metastatic malignant neoplasm in the breast NCIT:C7511 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Breast The spread of a malignant neoplasm to the breast. This may be from a primary breast malignant neoplasm on the opposite side, or from a malignant neoplasm at a distant site. MONDO:0007254|MONDO:0024880 MONDO:0858050 malignant esophageal neoplasm by anatomic region NCIT:C7512 MONDO:equivalentTo Malignant Esophageal Neoplasm by Anatomic Region MONDO:0007576 -MONDO:0858051 malignant esophageal neoplasm by topographic region NCIT:C7513 MONDO:equivalentTo Malignant Esophageal Neoplasm by Topographic Region MONDO:0007576 -MONDO:0858052 kidney and ureter neoplasm NCIT:C7514 MONDO:equivalentTo Kidney and Ureter Neoplasm MONDO:0021066 -MONDO:0858059 atypical adenoma NCIT:C7559 MONDO:equivalentTo Atypical Adenoma MONDO:0004972 -MONDO:0858060 eccrine hidrocystoma NCIT:C7565 MONDO:equivalentTo Eccrine Hidrocystoma MONDO:0024247|MONDO:0006787 -MONDO:0858066 regressing nevus NCIT:C7603 MONDO:equivalentTo Regressing Nevus MONDO:0044794 -MONDO:0858068 cerebral non-hodgkin lymphoma NCIT:C7609 MONDO:equivalentTo Cerebral Non-Hodgkin Lymphoma MONDO:0003655|MONDO:0044887 -MONDO:0858069 malignant thymoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma MONDO:0002586|MONDO:0006456 -MONDO:0858070 cutaneous lymphoproliferative disorder NCIT:C7614 MONDO:equivalentTo Cutaneous Lymphoproliferative Disorder -MONDO:0858074 bilateral malignant neoplasm NCIT:C7627 MONDO:equivalentTo Bilateral Malignant Neoplasm MONDO:0004992 -MONDO:0858080 intermediate soft tissue neoplasm NCIT:C7653 MONDO:equivalentTo Intermediate Soft Tissue Neoplasm MONDO:0006424 -MONDO:0858081 carcinoma in a polyp NCIT:C7682 MONDO:equivalentTo Carcinoma in a Polyp MONDO:0004993 -MONDO:0858082 invasive breast ductal carcinoma and lobular carcinoma in situ NCIT:C7689 MONDO:equivalentTo Invasive Breast Ductal Carcinoma and Lobular Carcinoma In Situ MONDO:0005050 -MONDO:0858083 breast ductal carcinoma in situ and lobular carcinoma NCIT:C7690 MONDO:equivalentTo Breast Ductal Carcinoma In Situ and Lobular Carcinoma MONDO:0006306 -MONDO:0858086 adult hodgkin lymphoma NCIT:C7702 MONDO:equivalentTo Adult Hodgkin Lymphoma MONDO:0004952|MONDO:0003660 -MONDO:0858087 adult non-hodgkin lymphoma NCIT:C7704 MONDO:equivalentTo Adult Non-Hodgkin Lymphoma MONDO:0003660|MONDO:0018908 -MONDO:0858088 childhood non-hodgkin lymphoma NCIT:C7706 MONDO:equivalentTo Childhood Non-Hodgkin Lymphoma MONDO:0003659|MONDO:0018908 -MONDO:0858089 adult soft tissue sarcoma NCIT:C7707 MONDO:equivalentTo Adult Soft Tissue Sarcoma MONDO:0018078 -MONDO:0858091 adult liver carcinoma NCIT:C7711 MONDO:equivalentTo Adult Liver Carcinoma MONDO:0018531 -MONDO:0858092 childhood hodgkin lymphoma NCIT:C7714 MONDO:equivalentTo Childhood Hodgkin Lymphoma MONDO:0004952|MONDO:0003659 -MONDO:0858094 gingival carcinoma NCIT:C7721 MONDO:equivalentTo Gingival Carcinoma MONDO:0005507|MONDO:0044925 -MONDO:0858095 vaginal clear cell adenocarcinoma NCIT:C7735 MONDO:equivalentTo Vaginal Clear Cell Adenocarcinoma MONDO:0020653|MONDO:0005004 -MONDO:0858096 digestive system hemangioma NCIT:C7741 MONDO:equivalentTo Digestive System Hemangioma MONDO:0000385|MONDO:0006500 -MONDO:0858097 mucous membrane hemangioma NCIT:C7744 MONDO:equivalentTo Mucous Membrane Hemangioma MONDO:0006500 -MONDO:0858099 cardiac myxoma NCIT:C7748 MONDO:equivalentTo Cardiac Myxoma MONDO:0044784|MONDO:0021505 -MONDO:0858100 malignant pericarditis NCIT:C7753 MONDO:equivalentTo Malignant Pericarditis MONDO:0001322|MONDO:0005904 -MONDO:0858108 adult leiomyosarcoma NCIT:C7810 MONDO:equivalentTo Adult Leiomyosarcoma MONDO:0005058 -MONDO:0858116 regional neuroblastoma NCIT:C7836 MONDO:equivalentTo Regional Neuroblastoma MONDO:0005072 -MONDO:0858119 stage i kidney wilms tumor NCIT:C7840 MONDO:equivalentTo Stage I Kidney Wilms Tumor MONDO:0019004 -MONDO:0858120 stage ii kidney wilms tumor NCIT:C7841 MONDO:equivalentTo Stage II Kidney Wilms Tumor MONDO:0019004 -MONDO:0858121 stage iii kidney wilms tumor NCIT:C7842 MONDO:equivalentTo Stage III Kidney Wilms Tumor MONDO:0019004 -MONDO:0858122 stage iv kidney wilms tumor NCIT:C7843 MONDO:equivalentTo Stage IV Kidney Wilms Tumor MONDO:0019004 -MONDO:0858123 stage v kidney wilms tumor NCIT:C7844 MONDO:equivalentTo Stage V Kidney Wilms Tumor MONDO:0019004 -MONDO:0858126 limited stage lung small cell carcinoma NCIT:C7853 MONDO:equivalentTo Limited Stage Lung Small Cell Carcinoma MONDO:0008433 -MONDO:0858151 grade i lymphomatoid granulomatosis NCIT:C7931 MONDO:equivalentTo Grade I Lymphomatoid Granulomatosis MONDO:0019466 -MONDO:0858152 grade ii lymphomatoid granulomatosis NCIT:C7932 MONDO:equivalentTo Grade II Lymphomatoid Granulomatosis MONDO:0019466 -MONDO:0858155 breast ductal carcinoma in situ, high grade NCIT:C7949 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, High Grade MONDO:0005023 -MONDO:0858156 breast paget disease with invasive ductal carcinoma NCIT:C7951 MONDO:equivalentTo Breast Paget Disease with Invasive Ductal Carcinoma MONDO:0006256|MONDO:0002648 -MONDO:0858161 childhood acute promyelocytic leukemia with t(15;17)(q24.1;q21.2); pml-rara NCIT:C7968 MONDO:equivalentTo Childhood Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA MONDO:0012883|MONDO:0004996 -MONDO:0858166 distal bile duct adenocarcinoma NCIT:C7976 MONDO:equivalentTo Distal Bile Duct Adenocarcinoma MONDO:0002665|MONDO:0003707|MONDO:0019087 -MONDO:0858169 carcinoma arising from craniopharyngioma NCIT:C79949 MONDO:equivalentTo Carcinoma Arising from Craniopharyngioma MONDO:0024878 -MONDO:0858170 testicular mixed embryonal carcinoma and yolk sac tumor NCIT:C8001 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor MONDO:0003120|MONDO:0003403 -MONDO:0858171 testicular mixed yolk sac tumor and teratoma NCIT:C8002 MONDO:equivalentTo Testicular Mixed Yolk Sac Tumor and Teratoma MONDO:0003120|MONDO:0003403 -MONDO:0858172 testicular mixed yolk sac tumor and teratoma with seminoma NCIT:C8003 MONDO:equivalentTo Testicular Mixed Yolk Sac Tumor and Teratoma with Seminoma MONDO:0003120 -MONDO:0858173 pancreatic somatostatin-producing neuroendocrine tumor NCIT:C8006 MONDO:equivalentTo Pancreatic Somatostatin-Producing Neuroendocrine Tumor MONDO:0006976|MONDO:0002994 -MONDO:0858174 salivary gland low grade carcinoma NCIT:C8012 MONDO:equivalentTo Salivary Gland Low Grade Carcinoma MONDO:0000521 -MONDO:0858175 lip basal cell carcinoma NCIT:C8014 MONDO:equivalentTo Lip Basal Cell Carcinoma MONDO:0005341|MONDO:0021333 -MONDO:0858176 salivary gland intermediate grade mucoepidermoid carcinoma NCIT:C8017 MONDO:equivalentTo Salivary Gland Intermediate Grade Mucoepidermoid Carcinoma MONDO:0021009 -MONDO:0858177 salivary gland high grade carcinoma NCIT:C8018 MONDO:equivalentTo Salivary Gland High Grade Carcinoma MONDO:0000521 -MONDO:0858178 salivary gland adenocarcinoma NCIT:C8021 MONDO:equivalentTo Salivary Gland Adenocarcinoma MONDO:0000521|MONDO:0004970 -MONDO:0858179 salivary gland poorly differentiated squamous cell carcinoma NCIT:C8022 MONDO:equivalentTo Salivary Gland Poorly Differentiated Squamous Cell Carcinoma MONDO:0044740 -MONDO:0858180 salivary gland undifferentiated carcinoma NCIT:C8024 MONDO:equivalentTo Salivary Gland Undifferentiated Carcinoma MONDO:0000521|MONDO:0005617 -MONDO:0858182 diffuse large b-cell lymphoma, not otherwise specified NCIT:C80280 MONDO:equivalentTo Diffuse Large B-Cell Lymphoma, Not Otherwise Specified MONDO:0018905 -MONDO:0858183 diffuse large b-cell lymphoma associated with chronic inflammation NCIT:C80289 MONDO:equivalentTo Diffuse Large B-Cell Lymphoma Associated with Chronic Inflammation MONDO:0018905 -MONDO:0858184 progressive hairy cell leukemia initial treatment NCIT:C8029 MONDO:equivalentTo Progressive Hairy Cell Leukemia Initial Treatment MONDO:0018935 -MONDO:0858185 high grade b-cell lymphoma, not otherwise specified NCIT:C80291 MONDO:equivalentTo High Grade B-Cell Lymphoma, Not Otherwise Specified MONDO:0044889 -MONDO:0858186 pediatric-type follicular lymphoma NCIT:C80297 MONDO:equivalentTo Pediatric-Type Follicular Lymphoma MONDO:0018906 -MONDO:0858189 monoclonal b-cell lymphocytosis NCIT:C80310 MONDO:equivalentTo Monoclonal B-Cell Lymphocytosis MONDO:0004949 -MONDO:0858190 b lymphoblastic leukemia/lymphoma, not otherwise specified NCIT:C80326 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified MONDO:0004947 -MONDO:0858191 b lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); tcf3-pbx1 NCIT:C80341 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 MONDO:0035605 -MONDO:0858205 regional adrenal gland pheochromocytoma NCIT:C8045 MONDO:equivalentTo Regional Adrenal Gland Pheochromocytoma MONDO:0004974 -MONDO:0858211 stage i ovarian germ cell tumor ajcc v6 and v7 NCIT:C8083 MONDO:equivalentTo Stage I Ovarian Germ Cell Tumor AJCC v6 and v7 MONDO:0018171 -MONDO:0858212 stage ii ovarian germ cell tumor ajcc v6 and v7 NCIT:C8084 MONDO:equivalentTo Stage II Ovarian Germ Cell Tumor AJCC v6 and v7 MONDO:0018171 -MONDO:0858213 stage iii ovarian germ cell tumor ajcc v6 and v7 NCIT:C8085 MONDO:equivalentTo Stage III Ovarian Germ Cell Tumor AJCC v6 and v7 MONDO:0018171 -MONDO:0858214 stage iv ovarian germ cell tumor ajcc v6 and v7 NCIT:C8086 MONDO:equivalentTo Stage IV Ovarian Germ Cell Tumor AJCC v6 and v7 MONDO:0018171 -MONDO:0858219 regional renal pelvis and ureter urothelial carcinoma NCIT:C8168 MONDO:equivalentTo Regional Renal Pelvis and Ureter Urothelial Carcinoma MONDO:0020654 -MONDO:0858221 buccal mucosa verrucous carcinoma NCIT:C8175 MONDO:equivalentTo Buccal Mucosa Verrucous Carcinoma MONDO:0021538|MONDO:0021431 -MONDO:0858222 fibroblastic reticular cell sarcoma NCIT:C81758 MONDO:equivalentTo Fibroblastic Reticular Cell Sarcoma MONDO:0006247|MONDO:0004992 -MONDO:0858224 disseminated juvenile xanthogranuloma NCIT:C81772 MONDO:equivalentTo Disseminated Juvenile Xanthogranuloma MONDO:0006247 -MONDO:0858225 oral cavity adenoid cystic carcinoma NCIT:C8179 MONDO:equivalentTo Oral Cavity Adenoid Cystic Carcinoma MONDO:0044925|MONDO:0004971 -MONDO:0858240 mixed phenotype acute leukemia, b/myeloid NCIT:C82212 MONDO:equivalentTo Mixed Phenotype Acute Leukemia, B/Myeloid MONDO:0020743 -MONDO:0858241 mixed phenotype acute leukemia, t/myeloid NCIT:C82213 MONDO:equivalentTo Mixed Phenotype Acute Leukemia, T/Myeloid MONDO:0020743 -MONDO:0858242 natural killer cell lymphoblastic leukemia/lymphoma NCIT:C82217 MONDO:equivalentTo Natural Killer Cell Lymphoblastic Leukemia/Lymphoma MONDO:0003538 -MONDO:0858245 myelodysplastic/myeloproliferative neoplasm post cytotoxic therapy NCIT:C82397 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm Post Cytotoxic Therapy MONDO:0006450|MONDO:0006311 -MONDO:0858246 acute myeloid leukemia with myelodysplasia-related gene mutations NCIT:C82430 MONDO:equivalentTo Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations MONDO:0100409 -MONDO:0858249 de novo myelodysplastic syndrome NCIT:C8253 MONDO:equivalentTo de novo Myelodysplastic Syndrome MONDO:0018881 -MONDO:0858251 adult anaplastic astrocytoma NCIT:C8257 MONDO:equivalentTo Adult Anaplastic Astrocytoma MONDO:0016684|MONDO:0004320 -MONDO:0858252 refractory neutropenia NCIT:C82593 MONDO:equivalentTo Refractory Neutropenia MONDO:0005272 -MONDO:0858253 refractory thrombocytopenia NCIT:C82594 MONDO:equivalentTo Refractory Thrombocytopenia MONDO:0005272 -MONDO:0858254 myelodysplastic syndrome with excess blasts and fibrosis NCIT:C82595 MONDO:equivalentTo Myelodysplastic Syndrome with Excess Blasts and Fibrosis MONDO:0019454 -MONDO:0858256 myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis, not otherwise specified NCIT:C82616 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis, Not Otherwise Specified MONDO:0006311 -MONDO:0858257 adult cholangiocarcinoma NCIT:C8265 MONDO:equivalentTo Adult Cholangiocarcinoma MONDO:0019087 -MONDO:0858258 meyerson nevus NCIT:C82862 MONDO:equivalentTo Meyerson Nevus MONDO:0044794 -MONDO:0858259 cystic oncocytic neoplasm NCIT:C82890 MONDO:equivalentTo Cystic Oncocytic Neoplasm MONDO:0010795 -MONDO:0858265 duodenal extraskeletal osteosarcoma NCIT:C82972 MONDO:equivalentTo Duodenal Extraskeletal Osteosarcoma MONDO:0000920|MONDO:0002621|MONDO:0003361 -MONDO:0858272 cellular pleomorphic adenoma NCIT:C83174 MONDO:equivalentTo Cellular Pleomorphic Adenoma MONDO:0008401 +MONDO:0858051 malignant esophageal neoplasm by topographic region NCIT:C7513 MONDO:equivalentTo Malignant Esophageal Neoplasm by Topographic Region Esophageal segments used primarily in pathology, and distinct from the anatomic segments used for clinical purposes. MONDO:0007576 +MONDO:0858052 kidney and ureter neoplasm NCIT:C7514 MONDO:equivalentTo Kidney and Ureter Neoplasm A benign or malignant, primary or metastatic neoplasm affecting the kidney and ureter. MONDO:0021066 +MONDO:0858059 atypical adenoma NCIT:C7559 MONDO:equivalentTo Atypical Adenoma An adenoma characterized by increased cellularity and nuclear atypia without evidence of vascular or capsular invasion. A representative example is thyroid gland atypical follicular adenoma. MONDO:0004972 +MONDO:0858060 eccrine hidrocystoma NCIT:C7565 MONDO:equivalentTo Eccrine Hidrocystoma A benign sweat gland cystic lesion that arises from the dermis. It is lined by a thin epithelial layer of cells with a slightly eosinophilic cytoplasm. MONDO:0006787|MONDO:0024247 +MONDO:0858066 regressing nevus NCIT:C7603 MONDO:equivalentTo Regressing Nevus A nevus associated with focal regression-like changes. MONDO:0044794 +MONDO:0858068 cerebral non-hodgkin lymphoma NCIT:C7609 MONDO:equivalentTo Cerebral Non-Hodgkin Lymphoma A non-Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. MONDO:0003655|MONDO:0044887 +MONDO:0858069 malignant thymoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma A thymoma that has an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. Although any morphologic subtype of thymoma may eventually have a malignant clinical course, this term is most often associated with thymoma types B3 and C. MONDO:0002586|MONDO:0006456 +MONDO:0858070 cutaneous lymphoproliferative disorder NCIT:C7614 MONDO:equivalentTo Cutaneous Lymphoproliferative Disorder A lymphoproliferative disorder that affects the skin. +MONDO:0858074 bilateral malignant neoplasm NCIT:C7627 MONDO:equivalentTo Bilateral Malignant Neoplasm A malignant neoplasm that affects both sides of an organ in a simultaneous or non-simultaneous manner. MONDO:0004992 +MONDO:0858080 intermediate soft tissue neoplasm NCIT:C7653 MONDO:equivalentTo Intermediate Soft Tissue Neoplasm A soft tissue neoplasm characterized by an increased risk of local recurrence and/or a low risk of metastasis. MONDO:0006424 +MONDO:0858081 carcinoma in a polyp NCIT:C7682 MONDO:equivalentTo Carcinoma in a Polyp Carcinoma arising in a polyp. MONDO:0004993 +MONDO:0858082 invasive breast ductal carcinoma and lobular carcinoma in situ NCIT:C7689 MONDO:equivalentTo Invasive Breast Ductal Carcinoma and Lobular Carcinoma In Situ An invasive ductal breast carcinoma associated with an in situ lobular carcinomatous component. MONDO:0005050 +MONDO:0858083 breast ductal carcinoma in situ and lobular carcinoma NCIT:C7690 MONDO:equivalentTo Breast Ductal Carcinoma In Situ and Lobular Carcinoma A breast carcinoma characterized by the presence of a ductal carcinoma in situ component and an in situ or invasive lobular carcinomatous component. MONDO:0006306 +MONDO:0858086 adult hodgkin lymphoma NCIT:C7702 MONDO:equivalentTo Adult Hodgkin Lymphoma Hodgkin lymphoma occurring in adults. MONDO:0004952|MONDO:0003660 +MONDO:0858087 adult non-hodgkin lymphoma NCIT:C7704 MONDO:equivalentTo Adult Non-Hodgkin Lymphoma Non-Hodgkin lymphoma occurring in adults. MONDO:0018908|MONDO:0003660 +MONDO:0858088 childhood non-hodgkin lymphoma NCIT:C7706 MONDO:equivalentTo Childhood Non-Hodgkin Lymphoma Non-Hodgkin lymphoma occurring in childhood. MONDO:0003659|MONDO:0018908 +MONDO:0858089 adult soft tissue sarcoma NCIT:C7707 MONDO:equivalentTo Adult Soft Tissue Sarcoma Soft tissue sarcoma occurring in adults. MONDO:0018078 +MONDO:0858091 adult liver carcinoma NCIT:C7711 MONDO:equivalentTo Adult Liver Carcinoma A hepatocellular carcinoma or intrahepatic cholangiocarcinoma that occurs during adulthood. MONDO:0018531 +MONDO:0858092 childhood hodgkin lymphoma NCIT:C7714 MONDO:equivalentTo Childhood Hodgkin Lymphoma Hodgkin lymphoma occurring in childhood. MONDO:0004952|MONDO:0003659 +MONDO:0858094 gingival carcinoma NCIT:C7721 MONDO:equivalentTo Gingival Carcinoma A carcinoma of the oral cavity that arises from the upper or lower gingiva. MONDO:0044925|MONDO:0005507 +MONDO:0858095 vaginal clear cell adenocarcinoma NCIT:C7735 MONDO:equivalentTo Vaginal Clear Cell Adenocarcinoma A morphologic variant of adenocarcinoma that arises from the vagina. It is characterized by the presence of malignant glandular epithelium and clear cells containing glycogen. MONDO:0020653|MONDO:0005004 +MONDO:0858096 digestive system hemangioma NCIT:C7741 MONDO:equivalentTo Digestive System Hemangioma A hemangioma arising from any part of the digestive system. MONDO:0000385|MONDO:0006500 +MONDO:0858097 mucous membrane hemangioma NCIT:C7744 MONDO:equivalentTo Mucous Membrane Hemangioma A hemangioma arising from the mucous membranes. MONDO:0006500 +MONDO:0858099 cardiac myxoma NCIT:C7748 MONDO:equivalentTo Cardiac Myxoma A myxoma arising from the endocardium. MONDO:0044784|MONDO:0021505 +MONDO:0858100 malignant pericarditis NCIT:C7753 MONDO:equivalentTo Malignant Pericarditis Pericarditis caused by the infiltration of the pericardium by a malignant neoplasm. The diagnosis is based on the cytological examination of pericardial fluid or the histologic examination of pericardial tissue. MONDO:0001322|MONDO:0005904 +MONDO:0858108 adult leiomyosarcoma NCIT:C7810 MONDO:equivalentTo Adult Leiomyosarcoma An aggressive malignant smooth muscle neoplasm, occurring in adults. It is characterized by a proliferation of neoplastic spindle cells. MONDO:0005058 +MONDO:0858116 regional neuroblastoma NCIT:C7836 MONDO:equivalentTo Regional Neuroblastoma A neuroblastoma confined to a specific anatomic region without evidence of dissemination. MONDO:0005072 +MONDO:0858119 stage i kidney wilms tumor NCIT:C7840 MONDO:equivalentTo Stage I Kidney Wilms Tumor Wilms tumor that is found in one kidney and can be completely removed with surgery. (National Wilms Tumor Study Group Staging System) MONDO:0019004 +MONDO:0858120 stage ii kidney wilms tumor NCIT:C7841 MONDO:equivalentTo Stage II Kidney Wilms Tumor Wilms tumor that is found in the kidney and in the fat, soft tissue, or blood vessels near the kidney. It may have spread to the renal sinus. The renal sinus is the part of the kidney where blood and fluid enter and exit the organ. The tumor can be completely removed with surgery. (National Wilms Tumor Study Group Staging System) MONDO:0019004 +MONDO:0858121 stage iii kidney wilms tumor NCIT:C7842 MONDO:equivalentTo Stage III Kidney Wilms Tumor Wilms tumor that is found in areas near the kidney and cannot be completely removed with surgery. The tumor may have spread to nearby organs and blood vessels or throughout the abdomen and to nearby lymph nodes. Lymph nodes are tiny, bean-shaped organs that help fight infection. Stage III cancer has not spread outside the abdomen. (National Wilms Tumor Study Group Staging System) MONDO:0019004 +MONDO:0858122 stage iv kidney wilms tumor NCIT:C7843 MONDO:equivalentTo Stage IV Kidney Wilms Tumor Wilms tumor that has spread to other more distant organs, such as the lungs, liver, bones, and brain, or to lymph nodes outside the abdomen (National Wilms Tumor Study Group Staging System) MONDO:0019004 +MONDO:0858123 stage v kidney wilms tumor NCIT:C7844 MONDO:equivalentTo Stage V Kidney Wilms Tumor Wilms tumor that affects both kidneys at the same time. The tumor in each kidney is staged separately (National Wilms Tumor Study Group Staging System) MONDO:0019004 +MONDO:0858126 limited stage lung small cell carcinoma NCIT:C7853 MONDO:equivalentTo Limited Stage Lung Small Cell Carcinoma Small cell lung carcinoma which is confined to one hemi-thorax and the regional lymph nodes. MONDO:0008433 +MONDO:0858151 grade i lymphomatoid granulomatosis NCIT:C7931 MONDO:equivalentTo Grade I Lymphomatoid Granulomatosis Lymphomatoid granulomatosis characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. MONDO:0019466 +MONDO:0858152 grade ii lymphomatoid granulomatosis NCIT:C7932 MONDO:equivalentTo Grade II Lymphomatoid Granulomatosis Lymphomatoid granulomatosis characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. MONDO:0019466 +MONDO:0858155 breast ductal carcinoma in situ, high grade NCIT:C7949 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, High Grade Breast ductal carcinoma in situ characterized by the presence of neoplastic cells with severe dysplasia and the formation of micropapillary, cribriform, or solid patterns. The nuclei show marked pleomorphism and have prominent nucleoli. Mitotic activity is usually present. There is comedo-type of necrosis present in the ducts. The necrotic debris is surrounded by pleomorphic malignant cells. MONDO:0005023 +MONDO:0858156 breast paget disease with invasive ductal carcinoma NCIT:C7951 MONDO:equivalentTo Breast Paget Disease with Invasive Ductal Carcinoma Paget disease involving the skin overlying the mammary gland, accompanied by invasive ductal breast carcinoma. MONDO:0006256|MONDO:0002648 +MONDO:0858161 childhood acute promyelocytic leukemia with t(15;17)(q24.1;q21.2); pml-rara NCIT:C7968 MONDO:equivalentTo Childhood Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA An acute promyelocytic leukemia with PML-RARA fusion occurring in children. MONDO:0012883|MONDO:0004996 +MONDO:0858166 distal bile duct adenocarcinoma NCIT:C7976 MONDO:equivalentTo Distal Bile Duct Adenocarcinoma An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct. MONDO:0002665|MONDO:0003707|MONDO:0019087 +MONDO:0858169 carcinoma arising from craniopharyngioma NCIT:C79949 MONDO:equivalentTo Carcinoma Arising from Craniopharyngioma A rare condition characterized by the development of a carcinoma in a pre-existing craniopharyngioma. MONDO:0024878 +MONDO:0858170 testicular mixed embryonal carcinoma and yolk sac tumor NCIT:C8001 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor A malignant non-seminomatous germ cell tumor arising from the testis. It is characterized by a mixture of embryonal carcinoma and yolk sac morphologic elements. Patients may present with painless or painful testicular swelling. MONDO:0003403|MONDO:0003120 +MONDO:0858171 testicular mixed yolk sac tumor and teratoma NCIT:C8002 MONDO:equivalentTo Testicular Mixed Yolk Sac Tumor and Teratoma A malignant non-seminomatous germ cell tumor arising from the testis. It is characterized by a mixture of yolk sac and teratomatous morphologic elements. Patients may present with painless or painful testicular swelling. MONDO:0003403|MONDO:0003120 +MONDO:0858172 testicular mixed yolk sac tumor and teratoma with seminoma NCIT:C8003 MONDO:equivalentTo Testicular Mixed Yolk Sac Tumor and Teratoma with Seminoma A malignant germ cell tumor arising from the testis. It is characterized by a mixture of yolk sac, teratomatous, and seminomatous morphologic elements. Patients may present with painless or painful testicular swelling. MONDO:0003120 +MONDO:0858173 pancreatic somatostatin-producing neuroendocrine tumor NCIT:C8006 MONDO:equivalentTo Pancreatic Somatostatin-Producing Neuroendocrine Tumor A usually malignant, somatostatin producing neuroendocrine tumor, arising from the delta cells of the pancreas. It may or may not be associated with inappropriate secretion of somatostatin and an associated clinical syndrome. MONDO:0006976|MONDO:0002994 +MONDO:0858174 salivary gland low grade carcinoma NCIT:C8012 MONDO:equivalentTo Salivary Gland Low Grade Carcinoma A salivary gland carcinoma with low-grade histopathologic features. It includes the salivary gland polymorphous low grade adenocarcinoma, salivary gland low grade cribriform cystadenocarcinoma, and low grade salivary gland mucoepidermoid carcinoma. It usually follows a non-aggressive clinical course. MONDO:0000521 +MONDO:0858175 lip basal cell carcinoma NCIT:C8014 MONDO:equivalentTo Lip Basal Cell Carcinoma A basal cell carcinoma arising from the lip. MONDO:0005341|MONDO:0021333 +MONDO:0858176 salivary gland intermediate grade mucoepidermoid carcinoma NCIT:C8017 MONDO:equivalentTo Salivary Gland Intermediate Grade Mucoepidermoid Carcinoma A salivary gland mucoepidermoid carcinoma with intermediate-grade histopathologic features. MONDO:0021009 +MONDO:0858177 salivary gland high grade carcinoma NCIT:C8018 MONDO:equivalentTo Salivary Gland High Grade Carcinoma A usually aggressive salivary gland carcinoma with high-grade histopathologic features. It includes the salivary duct carcinoma, salivary gland oncocytic carcinoma, and high grade salivary gland mucoepidermoid carcinoma. MONDO:0000521 +MONDO:0858178 salivary gland adenocarcinoma NCIT:C8021 MONDO:equivalentTo Salivary Gland Adenocarcinoma An adenocarcinoma arising from the salivary gland. It includes the salivary gland polymorphous low grade adenocarcinoma, salivary gland oncocytic carcinoma, salivary gland mucinous adenocarcinoma, salivary gland low grade cribriform cystadenocarcinoma, salivary gland cystadenocarcinoma, salivary gland basal cell adenocarcinoma, salivary gland acinic cell carcinoma, salivary duct carcinoma, and salivary gland adenocarcinoma not otherwise specified. MONDO:0000521|MONDO:0004970 +MONDO:0858179 salivary gland poorly differentiated squamous cell carcinoma NCIT:C8022 MONDO:equivalentTo Salivary Gland Poorly Differentiated Squamous Cell Carcinoma A poorly differentiated squamous cell carcinoma arising from the salivary gland. MONDO:0044740 +MONDO:0858180 salivary gland undifferentiated carcinoma NCIT:C8024 MONDO:equivalentTo Salivary Gland Undifferentiated Carcinoma A salivary gland carcinoma characterized by the presence of undifferentiated, anaplastic malignant epithelial cells. MONDO:0005617|MONDO:0000521 +MONDO:0858182 diffuse large b-cell lymphoma, not otherwise specified NCIT:C80280 MONDO:equivalentTo Diffuse Large B-Cell Lymphoma, Not Otherwise Specified A term referring to a group of diffuse large B-cell lymphomas which are biologically heterogeneous. These lymphomas have a centroblastic, immunoblastic, or anaplastic morphology. MONDO:0018905 +MONDO:0858183 diffuse large b-cell lymphoma associated with chronic inflammation NCIT:C80289 MONDO:equivalentTo Diffuse Large B-Cell Lymphoma Associated with Chronic Inflammation A diffuse large B-cell lymphoma arising in body cavities or narrow spaces of long standing chronic inflammation. The classic example is the pyothorax-associated lymphoma that arises in the pleural cavity of patients with a history of long standing pyothorax. MONDO:0018905 +MONDO:0858184 progressive hairy cell leukemia initial treatment NCIT:C8029 MONDO:equivalentTo Progressive Hairy Cell Leukemia Initial Treatment A hairy cell leukemia requiring initial treatment because of the presence of signs of progression. Signs of progression include cytopenia (especially if symptomatic), increasing splenomegaly, and infectious complications. Therapy is not necessary if the patients are asymptomatic and the blood counts are maintained in an acceptable range. MONDO:0018935 +MONDO:0858185 high grade b-cell lymphoma, not otherwise specified NCIT:C80291 MONDO:equivalentTo High Grade B-Cell Lymphoma, Not Otherwise Specified High-grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma that lacks MYC, BCL2, and BCL6 gene rearrangements. MONDO:0044889 +MONDO:0858186 pediatric-type follicular lymphoma NCIT:C80297 MONDO:equivalentTo Pediatric-Type Follicular Lymphoma A nodal follicular lymphoma with favorable prognosis. It lacks BCL-2 rearrangement and 14;18 translocation. Nearly all cases are localized. It is usually seen in the pediatric population but similar lymphomas may occur in adults. MONDO:0018906 +MONDO:0858189 monoclonal b-cell lymphocytosis NCIT:C80310 MONDO:equivalentTo Monoclonal B-Cell Lymphocytosis A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia. It precedes virtually all cases of chronic lymphocytic leukemia/small lymphocytic lymphoma. MONDO:0004949 +MONDO:0858190 b lymphoblastic leukemia/lymphoma, not otherwise specified NCIT:C80326 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified B-lymphoblastic leukemias/lymphomas characterized by the absence of recurrent genetic abnormalities. MONDO:0004947 +MONDO:0858191 b lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); tcf3-pbx1 NCIT:C80341 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. MONDO:0035605 +MONDO:0858205 regional adrenal gland pheochromocytoma NCIT:C8045 MONDO:equivalentTo Regional Adrenal Gland Pheochromocytoma A pheochromocytoma that has not spread to other regions. MONDO:0004974 +MONDO:0858211 stage i ovarian germ cell tumor ajcc v6 and v7 NCIT:C8083 MONDO:equivalentTo Stage I Ovarian Germ Cell Tumor AJCC v6 and v7 Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.) MONDO:0018171 +MONDO:0858212 stage ii ovarian germ cell tumor ajcc v6 and v7 NCIT:C8084 MONDO:equivalentTo Stage II Ovarian Germ Cell Tumor AJCC v6 and v7 Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0018171 +MONDO:0858213 stage iii ovarian germ cell tumor ajcc v6 and v7 NCIT:C8085 MONDO:equivalentTo Stage III Ovarian Germ Cell Tumor AJCC v6 and v7 Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0018171 +MONDO:0858214 stage iv ovarian germ cell tumor ajcc v6 and v7 NCIT:C8086 MONDO:equivalentTo Stage IV Ovarian Germ Cell Tumor AJCC v6 and v7 Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.) MONDO:0018171 +MONDO:0858219 regional renal pelvis and ureter urothelial carcinoma NCIT:C8168 MONDO:equivalentTo Regional Renal Pelvis and Ureter Urothelial Carcinoma Urothelial carcinoma of the renal pelvis or ureter that has spread to adjacent tissues and/or regional lymph nodes but not to distant anatomic sites. MONDO:0020654 +MONDO:0858221 buccal mucosa verrucous carcinoma NCIT:C8175 MONDO:equivalentTo Buccal Mucosa Verrucous Carcinoma A verrucous carcinoma of the oral cavity that arises from the buccal mucosa. MONDO:0021538|MONDO:0021431 +MONDO:0858222 fibroblastic reticular cell sarcoma NCIT:C81758 MONDO:equivalentTo Fibroblastic Reticular Cell Sarcoma A very rare dendritic cell sarcoma affecting the lymph nodes, spleen, and soft tissues. Morphologically it is similar to the interdigitating dendritic cell sarcoma or follicular dendritic cell sarcoma. The tumor cells are positive for cytokeratin and CD68. MONDO:0006247|MONDO:0004992 +MONDO:0858224 disseminated juvenile xanthogranuloma NCIT:C81772 MONDO:equivalentTo Disseminated Juvenile Xanthogranuloma Juvenile xanthogranuloma disseminated to extracutaneous sites including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells forming nodules in the affected anatomic sites. MONDO:0006247 +MONDO:0858225 oral cavity adenoid cystic carcinoma NCIT:C8179 MONDO:equivalentTo Oral Cavity Adenoid Cystic Carcinoma An adenoid cystic carcinoma arising from the minor salivary glands in the oral cavity. MONDO:0004971|MONDO:0044925 +MONDO:0858240 mixed phenotype acute leukemia, b/myeloid NCIT:C82212 MONDO:equivalentTo Mixed Phenotype Acute Leukemia, B/Myeloid A rare mixed phenotype acute leukemia in which the blasts express B-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable. MONDO:0020743 +MONDO:0858241 mixed phenotype acute leukemia, t/myeloid NCIT:C82213 MONDO:equivalentTo Mixed Phenotype Acute Leukemia, T/Myeloid A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable. MONDO:0020743 +MONDO:0858242 natural killer cell lymphoblastic leukemia/lymphoma NCIT:C82217 MONDO:equivalentTo Natural Killer Cell Lymphoblastic Leukemia/Lymphoma A precursor lymphoid neoplasm that expresses CD56 and immature T-cell markers, lacks B-lymphoid and myeloid markers, and has immunoglobulin and T-cell receptor genes in the germline configuration. MONDO:0003538 +MONDO:0858245 myelodysplastic/myeloproliferative neoplasm post cytotoxic therapy NCIT:C82397 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm Post Cytotoxic Therapy A myelodysplastic/myeloproliferative neoplasm arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. MONDO:0006311|MONDO:0006450 +MONDO:0858246 acute myeloid leukemia with myelodysplasia-related gene mutations NCIT:C82430 MONDO:equivalentTo Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations A group of acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia. MONDO:0100409 +MONDO:0858249 de novo myelodysplastic syndrome NCIT:C8253 MONDO:equivalentTo de novo Myelodysplastic Syndrome A primary myelodysplastic syndrome not associated with prior radiation or chemotherapy treatment. MONDO:0018881 +MONDO:0858251 adult anaplastic astrocytoma NCIT:C8257 MONDO:equivalentTo Adult Anaplastic Astrocytoma An astrocytoma occurring in adults that is characterized by the presence of high mitotic activity, cytologic atypia, and architectural distortion. MONDO:0004320|MONDO:0016684 +MONDO:0858252 refractory neutropenia NCIT:C82593 MONDO:equivalentTo Refractory Neutropenia A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic neutrophils in the bone marrow or the peripheral blood. MONDO:0005272 +MONDO:0858253 refractory thrombocytopenia NCIT:C82594 MONDO:equivalentTo Refractory Thrombocytopenia A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic megakaryocytes, found within at least 30 megakaryocytes examined in the bone marrow. MONDO:0005272 +MONDO:0858254 myelodysplastic syndrome with excess blasts and fibrosis NCIT:C82595 MONDO:equivalentTo Myelodysplastic Syndrome with Excess Blasts and Fibrosis Myelodysplastic syndrome with excess blasts associated with significant reticulin fibrosis of the bone marrow. MONDO:0019454 +MONDO:0858256 myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis, not otherwise specified NCIT:C82616 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis, Not Otherwise Specified A myelodysplastic/myeloproliferative neoplasm characterized by marked thrombocytosis, anemia, erythroid lineage dysplasia, presence or absence of multilineage dysplasia, 15% or more ring sideroblasts, blasts less than 5% in bone marrow and less than 1% in peripheral blood, absence of BCR/ABL fusion, absence of SF3B1 mutation, absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, and no history of other myelodysplastic/myeloproliferative neoplasms or myeloproliferative neoplasms and myelodysplastic syndromes. MONDO:0006311 +MONDO:0858257 adult cholangiocarcinoma NCIT:C8265 MONDO:equivalentTo Adult Cholangiocarcinoma A cholangiocarcinoma occurring in adults. MONDO:0019087 +MONDO:0858258 meyerson nevus NCIT:C82862 MONDO:equivalentTo Meyerson Nevus A benign melanocytic nevus surrounded by eczematous changes. MONDO:0044794 +MONDO:0858259 cystic oncocytic neoplasm NCIT:C82890 MONDO:equivalentTo Cystic Oncocytic Neoplasm An oncocytoma with cystic degenerative changes. MONDO:0010795 +MONDO:0858265 duodenal extraskeletal osteosarcoma NCIT:C82972 MONDO:equivalentTo Duodenal Extraskeletal Osteosarcoma An extraskeletal osteosarcoma affecting the duodenum. MONDO:0000920|MONDO:0002621|MONDO:0003361 +MONDO:0858272 cellular pleomorphic adenoma NCIT:C83174 MONDO:equivalentTo Cellular Pleomorphic Adenoma A pleomorphic adenoma with increased cellularity. MONDO:0008401 MONDO:0858275 atypical hyperplasia NCIT:C8355 MONDO:equivalentTo Atypical Hyperplasia -MONDO:0858277 low grade intraepithelial neoplasia NCIT:C8367 MONDO:equivalentTo Low Grade Intraepithelial Neoplasia MONDO:0024474 -MONDO:0858280 lymphangiomatosis NCIT:C8373 MONDO:equivalentTo Lymphangiomatosis MONDO:0036870 -MONDO:0858283 fibrohistiocytic neoplasm NCIT:C8402 MONDO:equivalentTo Fibrohistiocytic Neoplasm MONDO:0002616 -MONDO:0858284 benign supraglottis neoplasm NCIT:C8414 MONDO:equivalentTo Benign Supraglottis Neoplasm MONDO:0004427|MONDO:0002354 -MONDO:0858285 benign bartholin gland neoplasm NCIT:C8418 MONDO:equivalentTo Benign Bartholin Gland Neoplasm MONDO:0021114|MONDO:0000643 -MONDO:0858286 diffuse malignant mesothelioma NCIT:C8420 MONDO:equivalentTo Diffuse Malignant Mesothelioma MONDO:0006292 -MONDO:0858287 renal benign mesenchymoma NCIT:C84256 MONDO:equivalentTo Renal Benign Mesenchymoma MONDO:0002382 -MONDO:0858288 diffuse neurofibroma NCIT:C8426 MONDO:equivalentTo Diffuse Neurofibroma MONDO:0016755 -MONDO:0858289 anaplastic astroblastoma, mn1-altered NCIT:C84347 MONDO:equivalentTo Anaplastic Astroblastoma, MN1-Altered MONDO:0016707 -MONDO:0858299 asbestos-related lung disorder NCIT:C84472 MONDO:equivalentTo Asbestos-Related Lung Disorder -MONDO:0858304 central nervous system cavernous hemangioma NCIT:C84621 MONDO:equivalentTo Central Nervous System Cavernous Hemangioma MONDO:0003241|MONDO:0003155 -MONDO:0858314 invasive malignant neoplasm NCIT:C8505 MONDO:equivalentTo Invasive Malignant Neoplasm MONDO:0004992 -MONDO:0858316 refractory carcinoma NCIT:C8511 MONDO:equivalentTo Refractory Carcinoma MONDO:0036501|MONDO:0004993 -MONDO:0858321 locally advanced malignant neoplasm NCIT:C8524 MONDO:equivalentTo Locally Advanced Malignant Neoplasm MONDO:0024880 -MONDO:0858324 benign respiratory system neoplasm NCIT:C8531 MONDO:equivalentTo Benign Respiratory System Neoplasm MONDO:0005165|MONDO:0020641 -MONDO:0858330 metastatic malignant neoplasm in the nervous system NCIT:C8547 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Nervous System MONDO:0005872|MONDO:0024880 -MONDO:0858334 metastatic malignant neoplasm in the retina NCIT:C8555 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Retina MONDO:0044913|MONDO:0003072 -MONDO:0858337 metastatic malignant neoplasm of unknown primary NCIT:C8566 MONDO:equivalentTo Metastatic Malignant Neoplasm of Unknown Primary MONDO:0024880 -MONDO:0858339 invasive cervical carcinoma NCIT:C8577 MONDO:equivalentTo Invasive Cervical Carcinoma MONDO:0040677|MONDO:0005131 -MONDO:0858341 precancerous polyp NCIT:C8587 MONDO:equivalentTo Precancerous Polyp MONDO:0021075 -MONDO:0858342 leukemic phase of lymphoma NCIT:C8594 MONDO:equivalentTo Leukemic Phase of Lymphoma MONDO:0005402|MONDO:0018908 -MONDO:0858343 postcricoid carcinoma NCIT:C8595 MONDO:equivalentTo Postcricoid Carcinoma MONDO:0005216|MONDO:0004635 -MONDO:0858346 anaplastic (malignant) intraspinal meningioma NCIT:C8605 MONDO:equivalentTo Anaplastic (Malignant) Intraspinal Meningioma MONDO:0001279|MONDO:0020635 -MONDO:0858350 malignant hepatobiliary neoplasm NCIT:C8609 MONDO:equivalentTo Malignant Hepatobiliary Neoplasm MONDO:0002514|MONDO:0002516 -MONDO:0858351 metastatic malignant neoplasm in the adrenal gland NCIT:C8610 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Adrenal Gland MONDO:0002817|MONDO:0024880 -MONDO:0858363 stage i t lymphoblastic leukemia/lymphoma NCIT:C8697 MONDO:equivalentTo Stage I T Lymphoblastic Leukemia/Lymphoma MONDO:0003537 -MONDO:0858364 stage ii t lymphoblastic leukemia/lymphoma NCIT:C8698 MONDO:equivalentTo Stage II T Lymphoblastic Leukemia/Lymphoma MONDO:0003537 -MONDO:0858365 stage iii t lymphoblastic leukemia/lymphoma NCIT:C8699 MONDO:equivalentTo Stage III T Lymphoblastic Leukemia/Lymphoma MONDO:0003537 -MONDO:0858366 stage iv t lymphoblastic leukemia/lymphoma NCIT:C8700 MONDO:equivalentTo Stage IV T Lymphoblastic Leukemia/Lymphoma MONDO:0003537 -MONDO:0858370 metastatic malignant hemangiopericytoma NCIT:C8709 MONDO:equivalentTo Metastatic Malignant Hemangiopericytoma MONDO:0009330 -MONDO:0858371 primary malignant hemangiopericytoma NCIT:C8710 MONDO:equivalentTo Primary Malignant Hemangiopericytoma MONDO:0009330 -MONDO:0858381 stage i ovarian choriocarcinoma NCIT:C8730 MONDO:equivalentTo Stage I Ovarian Choriocarcinoma MONDO:0003507 -MONDO:0858382 stage ii ovarian choriocarcinoma NCIT:C8731 MONDO:equivalentTo Stage II Ovarian Choriocarcinoma MONDO:0003507 -MONDO:0858383 stage iii ovarian choriocarcinoma NCIT:C8732 MONDO:equivalentTo Stage III Ovarian Choriocarcinoma MONDO:0003507 -MONDO:0858384 stage iv ovarian choriocarcinoma NCIT:C8733 MONDO:equivalentTo Stage IV Ovarian Choriocarcinoma MONDO:0003507 -MONDO:0858395 stage i pharyngeal cancer NCIT:C8768 MONDO:equivalentTo Stage I Pharyngeal Cancer MONDO:0021345 -MONDO:0858396 stage ii pharyngeal cancer NCIT:C8769 MONDO:equivalentTo Stage II Pharyngeal Cancer MONDO:0021345 -MONDO:0858397 stage iii pharyngeal cancer NCIT:C8770 MONDO:equivalentTo Stage III Pharyngeal Cancer MONDO:0021345 -MONDO:0858398 stage iv pharyngeal cancer NCIT:C8771 MONDO:equivalentTo Stage IV Pharyngeal Cancer MONDO:0021345 -MONDO:0858443 b lymphoblastic lymphoma NCIT:C8868 MONDO:equivalentTo B Lymphoblastic Lymphoma MONDO:0000873|MONDO:0017595|MONDO:0004947 -MONDO:0858446 extragonadal embryonal carcinoma NCIT:C8880 MONDO:equivalentTo Extragonadal Embryonal Carcinoma MONDO:0003578|MONDO:0005440 -MONDO:0858459 pediatric disorder NCIT:C89328 MONDO:equivalentTo Pediatric Disorder -MONDO:0858464 fundic gland polyp NCIT:C8961 MONDO:equivalentTo Fundic Gland Polyp MONDO:0006221|MONDO:0036976 -MONDO:0858471 oral neoplasm NCIT:C8989 MONDO:equivalentTo Oral Neoplasm MONDO:0006858|MONDO:0005586 -MONDO:0858472 malignant mastocytosis NCIT:C8991 MONDO:equivalentTo Malignant Mastocytosis MONDO:0004992|MONDO:0016586 -MONDO:0858473 benign adrenal cortical neoplasm NCIT:C9004 MONDO:equivalentTo Benign Adrenal Cortical Neoplasm MONDO:0021511|MONDO:0036591 -MONDO:0858474 acute myelomonocytic leukemia with abnormal eosinophils NCIT:C9020 MONDO:equivalentTo Acute Myelomonocytic Leukemia with Abnormal Eosinophils MONDO:0018871 -MONDO:0858475 sarcoma by fnclcc grade NCIT:C9023 MONDO:equivalentTo Sarcoma by FNCLCC Grade MONDO:0005089 -MONDO:0858477 atypical cartilaginous tumor/chondrosarcoma, grade 1 NCIT:C9027 MONDO:equivalentTo Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 MONDO:0008977 -MONDO:0858479 renal cell cancer by ajcc v6 stage NCIT:C90343 MONDO:equivalentTo Renal Cell Cancer by AJCC v6 Stage MONDO:0005549 -MONDO:0858480 bladder cancer by ajcc v6 stage NCIT:C90344 MONDO:equivalentTo Bladder Cancer by AJCC v6 Stage MONDO:0004986 -MONDO:0858481 vulvar cancer by ajcc v6 stage NCIT:C90345 MONDO:equivalentTo Vulvar Cancer by AJCC v6 Stage MONDO:0005215 -MONDO:0858482 vaginal cancer by ajcc v6 stage NCIT:C90347 MONDO:equivalentTo Vaginal Cancer by AJCC v6 Stage MONDO:0015867 -MONDO:0858483 adult angiosarcoma NCIT:C9040 MONDO:equivalentTo Adult Angiosarcoma MONDO:0016982 -MONDO:0858485 extensive stage lung small cell carcinoma NCIT:C9049 MONDO:equivalentTo Extensive Stage Lung Small Cell Carcinoma MONDO:0008433 -MONDO:0858486 cervical cancer by ajcc v6 stage NCIT:C90493 MONDO:equivalentTo Cervical Cancer by AJCC v6 Stage MONDO:0005131 -MONDO:0858487 uterine corpus cancer by ajcc v6 stage NCIT:C90494 MONDO:equivalentTo Uterine Corpus Cancer by AJCC v6 Stage MONDO:0006003 -MONDO:0858488 fallopian tube cancer by ajcc v6 stage NCIT:C90499 MONDO:equivalentTo Fallopian Tube Cancer by AJCC v6 Stage MONDO:0006206 -MONDO:0858489 esophageal cancer by ajcc v6 stage NCIT:C90500 MONDO:equivalentTo Esophageal Cancer by AJCC v6 Stage MONDO:0019086 +MONDO:0858277 low grade intraepithelial neoplasia NCIT:C8367 MONDO:equivalentTo Low Grade Intraepithelial Neoplasia A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. It is characterized by the presence of mild epithelial dysplasia. MONDO:0024474 +MONDO:0858280 lymphangiomatosis NCIT:C8373 MONDO:equivalentTo Lymphangiomatosis A lymphangioma affecting several anatomic sites. MONDO:0036870 +MONDO:0858283 fibrohistiocytic neoplasm NCIT:C8402 MONDO:equivalentTo Fibrohistiocytic Neoplasm A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. MONDO:0002616 +MONDO:0858284 benign supraglottis neoplasm NCIT:C8414 MONDO:equivalentTo Benign Supraglottis Neoplasm A neoplasm that arises from the supraglottis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0004427|MONDO:0002354 +MONDO:0858285 benign bartholin gland neoplasm NCIT:C8418 MONDO:equivalentTo Benign Bartholin Gland Neoplasm A non-metastasizing neoplasm that arises from the Bartholin gland. Representative examples include adenoma and adenomyoma. MONDO:0000643|MONDO:0021114 +MONDO:0858286 diffuse malignant mesothelioma NCIT:C8420 MONDO:equivalentTo Diffuse Malignant Mesothelioma A diffuse malignant neoplasm that arises from mesothelial cells, usually in the pleura or peritoneum. Histologic variants include biphasic, epithelioid, sarcomatoid, and desmoplastic mesothelioma. MONDO:0006292 +MONDO:0858287 renal benign mesenchymoma NCIT:C84256 MONDO:equivalentTo Renal Benign Mesenchymoma A benign mesenchymoma arising from the kidney. MONDO:0002382 +MONDO:0858288 diffuse neurofibroma NCIT:C8426 MONDO:equivalentTo Diffuse Neurofibroma A rare neurofibroma with an infiltrative growth pattern. It involves the skin and subcutaneous tissue and grows in a plaque-like fashion. Malignant transformation is rare. MONDO:0016755 +MONDO:0858289 anaplastic astroblastoma, mn1-altered NCIT:C84347 MONDO:equivalentTo Anaplastic Astroblastoma, MN1-Altered An astroblastoma, MN1-altered, characterized by the presence of high mitotic activity, cytologic atypia, and architectural distortion. MONDO:0016707 +MONDO:0858299 asbestos-related lung disorder NCIT:C84472 MONDO:equivalentTo Asbestos-Related Lung Disorder A disorder affecting the lungs due to asbestos exposure. Examples include asbestosis and lung carcinoma. +MONDO:0858304 central nervous system cavernous hemangioma NCIT:C84621 MONDO:equivalentTo Central Nervous System Cavernous Hemangioma A cavernous hemangioma arising from the central nervous system. MONDO:0003241|MONDO:0003155 +MONDO:0858314 invasive malignant neoplasm NCIT:C8505 MONDO:equivalentTo Invasive Malignant Neoplasm Cancer that has spread beyond the layer of tissue in which it developed and is growing into surrounding, healthy tissues. MONDO:0004992 +MONDO:0858316 refractory carcinoma NCIT:C8511 MONDO:equivalentTo Refractory Carcinoma A carcinoma that does not respond to treatment. MONDO:0036501|MONDO:0004993 +MONDO:0858321 locally advanced malignant neoplasm NCIT:C8524 MONDO:equivalentTo Locally Advanced Malignant Neoplasm A malignant neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes. MONDO:0024880 +MONDO:0858324 benign respiratory system neoplasm NCIT:C8531 MONDO:equivalentTo Benign Respiratory System Neoplasm A neoplasm that arises from the respiratory system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0005165|MONDO:0020641 +MONDO:0858330 metastatic malignant neoplasm in the nervous system NCIT:C8547 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Nervous System The spread of a malignant neoplasm to the nervous system. This may be from a primary nervous system malignant neoplasm, or from a malignant neoplasm at a distant site. MONDO:0005872|MONDO:0024880 +MONDO:0858334 metastatic malignant neoplasm in the retina NCIT:C8555 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Retina A malignant neoplasm that has spread to the retina from another anatomic site. MONDO:0003072|MONDO:0044913 +MONDO:0858337 metastatic malignant neoplasm of unknown primary NCIT:C8566 MONDO:equivalentTo Metastatic Malignant Neoplasm of Unknown Primary The spread of a malignant neoplasm from an unknown primary to another region remote from the primary site. MONDO:0024880 +MONDO:0858339 invasive cervical carcinoma NCIT:C8577 MONDO:equivalentTo Invasive Cervical Carcinoma A carcinoma that arises from the cervix and invades into the stromal tissue. MONDO:0040677|MONDO:0005131 +MONDO:0858341 precancerous polyp NCIT:C8587 MONDO:equivalentTo Precancerous Polyp A polyp with severe dysplastic features. MONDO:0021075 +MONDO:0858342 leukemic phase of lymphoma NCIT:C8594 MONDO:equivalentTo Leukemic Phase of Lymphoma A usually terminal event in the clinical course of lymphomas. The term indicates the presence of atypical, clonal (malignant) lymphocytes (lymphoma cells) in the peripheral blood. MONDO:0005402|MONDO:0018908 +MONDO:0858343 postcricoid carcinoma NCIT:C8595 MONDO:equivalentTo Postcricoid Carcinoma A carcinoma of the hypopharynx that arises from the postcricoid region. MONDO:0005216|MONDO:0004635 +MONDO:0858346 anaplastic (malignant) intraspinal meningioma NCIT:C8605 MONDO:equivalentTo Anaplastic (Malignant) Intraspinal Meningioma An anaplastic (malignant) meningioma involving the spinal meninges. MONDO:0020635|MONDO:0001279 +MONDO:0858350 malignant hepatobiliary neoplasm NCIT:C8609 MONDO:equivalentTo Malignant Hepatobiliary Neoplasm A malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. MONDO:0002514|MONDO:0002516 +MONDO:0858351 metastatic malignant neoplasm in the adrenal gland NCIT:C8610 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Adrenal Gland A malignant tumor that has spread to the adrenal gland from an adjacent or distant anatomic site. The majority of cases are metastatic carcinomas, and less frequently lymphomas. MONDO:0002817|MONDO:0024880 +MONDO:0858363 stage i t lymphoblastic leukemia/lymphoma NCIT:C8697 MONDO:equivalentTo Stage I T Lymphoblastic Leukemia/Lymphoma Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (Rare in Hodgkin lymphoma). MONDO:0003537 +MONDO:0858364 stage ii t lymphoblastic leukemia/lymphoma NCIT:C8698 MONDO:equivalentTo Stage II T Lymphoblastic Leukemia/Lymphoma Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in a with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). MONDO:0003537 +MONDO:0858365 stage iii t lymphoblastic leukemia/lymphoma NCIT:C8699 MONDO:equivalentTo Stage III T Lymphoblastic Leukemia/Lymphoma Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S). MONDO:0003537 +MONDO:0858366 stage iv t lymphoblastic leukemia/lymphoma NCIT:C8700 MONDO:equivalentTo Stage IV T Lymphoblastic Leukemia/Lymphoma Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, or nodular involvement of the lungs(s). MONDO:0003537 +MONDO:0858370 metastatic malignant hemangiopericytoma NCIT:C8709 MONDO:equivalentTo Metastatic Malignant Hemangiopericytoma A malignant hemangiopericytoma which has spread to another anatomical site. MONDO:0009330 +MONDO:0858371 primary malignant hemangiopericytoma NCIT:C8710 MONDO:equivalentTo Primary Malignant Hemangiopericytoma A rare malignant mesenchymal neoplasm that is believed to have its origin in smooth muscle derived pericytes without evidence of metastases. MONDO:0009330 +MONDO:0858381 stage i ovarian choriocarcinoma NCIT:C8730 MONDO:equivalentTo Stage I Ovarian Choriocarcinoma Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0003507 +MONDO:0858382 stage ii ovarian choriocarcinoma NCIT:C8731 MONDO:equivalentTo Stage II Ovarian Choriocarcinoma Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0003507 +MONDO:0858383 stage iii ovarian choriocarcinoma NCIT:C8732 MONDO:equivalentTo Stage III Ovarian Choriocarcinoma Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0003507 +MONDO:0858384 stage iv ovarian choriocarcinoma NCIT:C8733 MONDO:equivalentTo Stage IV Ovarian Choriocarcinoma Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.) MONDO:0003507 +MONDO:0858395 stage i pharyngeal cancer NCIT:C8768 MONDO:equivalentTo Stage I Pharyngeal Cancer Stage I carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0021345 +MONDO:0858396 stage ii pharyngeal cancer NCIT:C8769 MONDO:equivalentTo Stage II Pharyngeal Cancer Stage II carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0021345 +MONDO:0858397 stage iii pharyngeal cancer NCIT:C8770 MONDO:equivalentTo Stage III Pharyngeal Cancer Stage III carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0021345 +MONDO:0858398 stage iv pharyngeal cancer NCIT:C8771 MONDO:equivalentTo Stage IV Pharyngeal Cancer Stage IV carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. MONDO:0021345 +MONDO:0858443 b lymphoblastic lymphoma NCIT:C8868 MONDO:equivalentTo B Lymphoblastic Lymphoma An uncommon type of lymphoma. It constitutes approximately 10% of cases of lymphoblastic lymphoma. Approximately 75% of cases reported in a literature review involved patients who were less than 18 years of age. The most commonly affected sites are the skin, bone, soft tissue, and lymph nodes. It has a high remission rate with a median survival of approximately 60 months. (WHO, 2001) MONDO:0000873|MONDO:0017595|MONDO:0004947 +MONDO:0858446 extragonadal embryonal carcinoma NCIT:C8880 MONDO:equivalentTo Extragonadal Embryonal Carcinoma An embryonal carcinoma that develops as a primary tumor in an anatomic site other than the testis or ovary. MONDO:0003578|MONDO:0005440 +MONDO:0858459 pediatric disorder NCIT:C89328 MONDO:equivalentTo Pediatric Disorder A non-neoplastic or neoplastic disorder which occurs during infancy, childhood, or adolescence. +MONDO:0858464 fundic gland polyp NCIT:C8961 MONDO:equivalentTo Fundic Gland Polyp The most common gastric polyp in the Western hemisphere. The lesion consists of a localized hyperplasia of the deep epithelial compartment of the oxyntic mucosa, with variable degrees of cystic dilatation. Malignant transformation is the exception. (WHO, 2000) MONDO:0006221|MONDO:0036976 +MONDO:0858471 oral neoplasm NCIT:C8989 MONDO:equivalentTo Oral Neoplasm A benign or malignant neoplasm involving the oral cavity and/or the lips. MONDO:0005586|MONDO:0006858 +MONDO:0858472 malignant mastocytosis NCIT:C8991 MONDO:equivalentTo Malignant Mastocytosis A group of malignant mast cell disorders including aggressive systemic mastocytosis, mast cell leukemia, mast cell sarcoma, and systemic mastocytosis with an associated myeloid neoplasm. Individuals with advanced systemic mastocytosis have a reduced life expectancy, with median survival measured in months to years. MONDO:0004992|MONDO:0016586 +MONDO:0858473 benign adrenal cortical neoplasm NCIT:C9004 MONDO:equivalentTo Benign Adrenal Cortical Neoplasm A neoplasm that arises from the adrenal cortex and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021511|MONDO:0036591 +MONDO:0858474 acute myelomonocytic leukemia with abnormal eosinophils NCIT:C9020 MONDO:equivalentTo Acute Myelomonocytic Leukemia with Abnormal Eosinophils Acute myelomonocytic leukemia characterized by the presence of abnormal bone marrow eosinophils. It is associated with inv(16)(p13.1;q22) or t(16;16)(p13.1;q22). It has a favorable prognosis. MONDO:0018871 +MONDO:0858475 sarcoma by fnclcc grade NCIT:C9023 MONDO:equivalentTo Sarcoma by FNCLCC Grade Grading of sarcomas according to the French Federation of Cancer Centers Sarcoma Group (FNCLCC). This sarcoma grading system is based on three factors: differentiation, mitotic count, and tumor necrosis. The scores for each factor are added to determine the grade (1 to 3) for the sarcoma. MONDO:0005089 +MONDO:0858477 atypical cartilaginous tumor/chondrosarcoma, grade 1 NCIT:C9027 MONDO:equivalentTo Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 A low-grade chondrosarcoma characterized by the presence of moderate cellularity, hyperchromatic and plump nuclei of uniform size, and occasional binucleated cells. Mitotic figures are absent. MONDO:0008977 +MONDO:0858479 renal cell cancer by ajcc v6 stage NCIT:C90343 MONDO:equivalentTo Renal Cell Cancer by AJCC v6 Stage A term that refers to the staging of renal cell cancer according to the American Joint Committee on Cancer, 6th edition. MONDO:0005549 +MONDO:0858480 bladder cancer by ajcc v6 stage NCIT:C90344 MONDO:equivalentTo Bladder Cancer by AJCC v6 Stage A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 6th edition. MONDO:0004986 +MONDO:0858481 vulvar cancer by ajcc v6 stage NCIT:C90345 MONDO:equivalentTo Vulvar Cancer by AJCC v6 Stage A term that refers to the staging of vulvar carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0005215 +MONDO:0858482 vaginal cancer by ajcc v6 stage NCIT:C90347 MONDO:equivalentTo Vaginal Cancer by AJCC v6 Stage A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 6th edition. MONDO:0015867 +MONDO:0858483 adult angiosarcoma NCIT:C9040 MONDO:equivalentTo Adult Angiosarcoma An angiosarcoma occurring in the adult population. MONDO:0016982 +MONDO:0858485 extensive stage lung small cell carcinoma NCIT:C9049 MONDO:equivalentTo Extensive Stage Lung Small Cell Carcinoma Small cell lung carcinoma which has spread beyond one hemi-thorax and the regional lymph nodes. MONDO:0008433 +MONDO:0858486 cervical cancer by ajcc v6 stage NCIT:C90493 MONDO:equivalentTo Cervical Cancer by AJCC v6 Stage A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 6th edition. MONDO:0005131 +MONDO:0858487 uterine corpus cancer by ajcc v6 stage NCIT:C90494 MONDO:equivalentTo Uterine Corpus Cancer by AJCC v6 Stage A term that refers to the staging of uterine corpus cancer according to the American Joint Committee on Cancer, 6th edition. MONDO:0006003 +MONDO:0858488 fallopian tube cancer by ajcc v6 stage NCIT:C90499 MONDO:equivalentTo Fallopian Tube Cancer by AJCC v6 Stage A term that refers to the staging of fallopian tube carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0006206 +MONDO:0858489 esophageal cancer by ajcc v6 stage NCIT:C90500 MONDO:equivalentTo Esophageal Cancer by AJCC v6 Stage A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0019086 MONDO:0858490 gastric cancer by ajcc v6 stage NCIT:C90503 MONDO:equivalentTo Gastric Cancer by AJCC v6 Stage MONDO:0004950 -MONDO:0858491 colorectal cancer by ajcc v6 stage NCIT:C90506 MONDO:equivalentTo Colorectal Cancer by AJCC v6 Stage MONDO:0024331 -MONDO:0858493 hepatocellular carcinoma by ajcc v6 stage NCIT:C90510 MONDO:equivalentTo Hepatocellular Carcinoma by AJCC v6 Stage MONDO:0007256 -MONDO:0858494 gallbladder cancer by ajcc v6 stage NCIT:C90512 MONDO:equivalentTo Gallbladder Cancer by AJCC v6 Stage MONDO:0003220 -MONDO:0858495 breast cancer by ajcc v6 stage NCIT:C90513 MONDO:equivalentTo Breast Cancer by AJCC v6 Stage MONDO:0004989 -MONDO:0858496 cutaneous melanoma by ajcc v6 stage NCIT:C90514 MONDO:equivalentTo Cutaneous Melanoma by AJCC v6 Stage MONDO:0005012 -MONDO:0858497 lung cancer by ajcc v6 stage NCIT:C90519 MONDO:equivalentTo Lung Cancer by AJCC v6 Stage MONDO:0005138 -MONDO:0858498 penile cancer by ajcc v6 stage NCIT:C90520 MONDO:equivalentTo Penile Cancer by AJCC v6 Stage MONDO:0006360 -MONDO:0858499 prostate cancer by ajcc v6 stage NCIT:C90521 MONDO:equivalentTo Prostate Cancer by AJCC v6 Stage MONDO:0005159 -MONDO:0858502 pharyngeal carcinoma by ajcc v6 stage NCIT:C90525 MONDO:equivalentTo Pharyngeal Carcinoma by AJCC v6 Stage MONDO:0021345 -MONDO:0858503 laryngeal cancer by ajcc v6 stage NCIT:C90527 MONDO:equivalentTo Laryngeal Cancer by AJCC v6 Stage MONDO:0002358 -MONDO:0858504 sinonasal cancer by ajcc v6 stage NCIT:C90528 MONDO:equivalentTo Sinonasal Cancer by AJCC v6 Stage MONDO:0056819 -MONDO:0858510 kaposi sarcoma related to immunosuppressive treatment NCIT:C9113 MONDO:equivalentTo Kaposi Sarcoma Related to Immunosuppressive Treatment MONDO:0005188 -MONDO:0858511 renal cell cancer by ajcc v7 stage NCIT:C91201 MONDO:equivalentTo Renal Cell Cancer by AJCC v7 Stage MONDO:0005549 -MONDO:0858512 bladder cancer by ajcc v7 stage NCIT:C91202 MONDO:equivalentTo Bladder Cancer by AJCC v7 Stage MONDO:0004986 -MONDO:0858513 vulvar cancer by ajcc v7 stage NCIT:C91203 MONDO:equivalentTo Vulvar Cancer by AJCC v7 Stage MONDO:0005215 -MONDO:0858514 vaginal cancer by ajcc v7 stage NCIT:C91204 MONDO:equivalentTo Vaginal Cancer by AJCC v7 Stage MONDO:0015867 -MONDO:0858515 cervical cancer by ajcc v7 stage NCIT:C91208 MONDO:equivalentTo Cervical Cancer by AJCC v7 Stage MONDO:0005131 -MONDO:0858516 uterine corpus cancer by ajcc v7 stage NCIT:C91218 MONDO:equivalentTo Uterine Corpus Cancer by AJCC v7 Stage MONDO:0006003 -MONDO:0858517 fallopian tube cancer by ajcc v7 stage NCIT:C91219 MONDO:equivalentTo Fallopian Tube Cancer by AJCC v7 Stage MONDO:0006206 -MONDO:0858518 esophageal cancer by ajcc v7 stage NCIT:C91221 MONDO:equivalentTo Esophageal Cancer by AJCC v7 Stage MONDO:0019086 -MONDO:0858519 gastric cancer by ajcc v7 stage NCIT:C91222 MONDO:equivalentTo Gastric Cancer by AJCC v7 Stage MONDO:0004950 -MONDO:0858520 colorectal cancer by ajcc v7 stage NCIT:C91223 MONDO:equivalentTo Colorectal Cancer by AJCC v7 Stage MONDO:0024331 -MONDO:0858522 hepatocellular carcinoma by ajcc v7 stage NCIT:C91228 MONDO:equivalentTo Hepatocellular Carcinoma by AJCC v7 Stage MONDO:0007256 -MONDO:0858523 gallbladder cancer by ajcc v7 stage NCIT:C91229 MONDO:equivalentTo Gallbladder Cancer by AJCC v7 Stage MONDO:0003220 -MONDO:0858524 breast cancer by ajcc v7 stage NCIT:C91230 MONDO:equivalentTo Breast Cancer by AJCC v7 Stage MONDO:0004989 -MONDO:0858525 cutaneous melanoma by ajcc v7 stage NCIT:C91231 MONDO:equivalentTo Cutaneous Melanoma by AJCC v7 Stage MONDO:0005012 -MONDO:0858526 lung cancer by ajcc v7 stage NCIT:C91232 MONDO:equivalentTo Lung Cancer by AJCC v7 Stage MONDO:0005138 -MONDO:0858527 prostate cancer by ajcc v7 stage NCIT:C91233 MONDO:equivalentTo Prostate Cancer by AJCC v7 Stage MONDO:0005159 -MONDO:0858528 penile cancer by ajcc v7 stage NCIT:C91234 MONDO:equivalentTo Penile Cancer by AJCC v7 Stage MONDO:0006360 -MONDO:0858531 pharyngeal carcinoma by ajcc v7 stage NCIT:C91252 MONDO:equivalentTo Pharyngeal Carcinoma by AJCC v7 Stage MONDO:0021345 -MONDO:0858532 sinonasal cancer by ajcc v7 stage NCIT:C91255 MONDO:equivalentTo Sinonasal Cancer by AJCC v7 Stage MONDO:0056819 -MONDO:0858533 laryngeal cancer by ajcc v7 stage NCIT:C91256 MONDO:equivalentTo Laryngeal Cancer by AJCC v7 Stage MONDO:0002358 -MONDO:0858534 chronic myeloid leukemia, philadelphia chromosome positive, bcr-abl1 positive NCIT:C9128 MONDO:equivalentTo Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive MONDO:0024685|MONDO:0011996 -MONDO:0858535 adult rhabdomyosarcoma NCIT:C9130 MONDO:equivalentTo Adult Rhabdomyosarcoma MONDO:0005212 -MONDO:0858536 invasive breast carcinoma of no special type with predominant intraductal component NCIT:C9132 MONDO:equivalentTo Invasive Breast Carcinoma of No Special Type with Predominant Intraductal Component MONDO:0004953 -MONDO:0858537 invasive breast lobular carcinoma with predominant in situ component NCIT:C9136 MONDO:equivalentTo Invasive Breast Lobular Carcinoma with Predominant In Situ Component MONDO:0005051 -MONDO:0858538 adult acute myeloid leukemia NCIT:C9154 MONDO:equivalentTo Adult Acute Myeloid Leukemia MONDO:0018874 -MONDO:0858543 testicular mixed embryonal carcinoma and yolk sac tumor with seminoma NCIT:C9172 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor with Seminoma MONDO:0003120 -MONDO:0858546 good prognosis metastatic gestational trophoblastic tumor NCIT:C9177 MONDO:equivalentTo Good Prognosis Metastatic Gestational Trophoblastic Tumor MONDO:0018944 -MONDO:0858547 poor prognosis metastatic gestational trophoblastic tumor NCIT:C9178 MONDO:equivalentTo Poor Prognosis Metastatic Gestational Trophoblastic Tumor MONDO:0018944 -MONDO:0858549 intraocular schwannoma NCIT:C92182 MONDO:equivalentTo Intraocular Schwannoma MONDO:0021454|MONDO:0004820 -MONDO:0858550 esophageal malignant peripheral nerve sheath tumor NCIT:C92185 MONDO:equivalentTo Esophageal Malignant Peripheral Nerve Sheath Tumor MONDO:0001204|MONDO:0017827 -MONDO:0858551 intraocular malignant peripheral nerve sheath tumor NCIT:C92186 MONDO:equivalentTo Intraocular Malignant Peripheral Nerve Sheath Tumor MONDO:0002236|MONDO:0017827 -MONDO:0858558 non-hematologic malignancy NCIT:C9226 MONDO:equivalentTo Non-Hematologic Malignancy MONDO:0004992 -MONDO:0858562 recurrent malignant hemangiopericytoma NCIT:C9254 MONDO:equivalentTo Recurrent Malignant Hemangiopericytoma MONDO:0009330 -MONDO:0858563 multifocal glioblastomas NCIT:C92549 MONDO:equivalentTo Multifocal Glioblastomas MONDO:0018177 -MONDO:0858565 glioneuronal tumor with neuropil-like islands NCIT:C92550 MONDO:equivalentTo Glioneuronal Tumor with Neuropil-Like Islands MONDO:0019781 -MONDO:0858569 anaplastic medulloblastoma NCIT:C92625 MONDO:equivalentTo Anaplastic Medulloblastoma MONDO:0007959 -MONDO:0858573 malignant peripheral nerve sheath tumor with mesenchymal differentiation NCIT:C92647 MONDO:equivalentTo Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation MONDO:0017827 -MONDO:0858574 mycosis fungoides and sezary syndrome NCIT:C9265 MONDO:equivalentTo Mycosis Fungoides and Sezary Syndrome MONDO:0000430 -MONDO:0858580 advanced malignant neoplasm NCIT:C9270 MONDO:equivalentTo Advanced Malignant Neoplasm MONDO:0024880 -MONDO:0858584 lymphocyte-depleted classic hodgkin lymphoma NCIT:C9283 MONDO:equivalentTo Lymphocyte-Depleted Classic Hodgkin Lymphoma MONDO:0009348 -MONDO:0858585 central nervous system histiocytic and dendritic cell neoplasm NCIT:C92944 MONDO:equivalentTo Central Nervous System Histiocytic and Dendritic Cell Neoplasm MONDO:0006247|MONDO:0003641 -MONDO:0858588 peritoneal malignant mesothelioma NCIT:C9350 MONDO:equivalentTo Peritoneal Malignant Mesothelioma MONDO:0006292|MONDO:0002087|MONDO:0006362 -MONDO:0858595 combined lung small cell carcinoma and lung adenocarcinoma NCIT:C9379 MONDO:equivalentTo Combined Lung Small Cell Carcinoma and Lung Adenocarcinoma MONDO:0003438 -MONDO:0858597 well differentiated malignant hemangiopericytoma NCIT:C9392 MONDO:equivalentTo Well Differentiated Malignant Hemangiopericytoma MONDO:0009330 +MONDO:0858491 colorectal cancer by ajcc v6 stage NCIT:C90506 MONDO:equivalentTo Colorectal Cancer by AJCC v6 Stage A term that refers to the staging of colorectal carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0024331 +MONDO:0858493 hepatocellular carcinoma by ajcc v6 stage NCIT:C90510 MONDO:equivalentTo Hepatocellular Carcinoma by AJCC v6 Stage A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0007256 +MONDO:0858494 gallbladder cancer by ajcc v6 stage NCIT:C90512 MONDO:equivalentTo Gallbladder Cancer by AJCC v6 Stage A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 6th edition. MONDO:0003220 +MONDO:0858495 breast cancer by ajcc v6 stage NCIT:C90513 MONDO:equivalentTo Breast Cancer by AJCC v6 Stage A term that refers to the staging of breast cancer according to the American Joint Committee on Cancer, 6th edition. MONDO:0004989 +MONDO:0858496 cutaneous melanoma by ajcc v6 stage NCIT:C90514 MONDO:equivalentTo Cutaneous Melanoma by AJCC v6 Stage A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system. MONDO:0005012 +MONDO:0858497 lung cancer by ajcc v6 stage NCIT:C90519 MONDO:equivalentTo Lung Cancer by AJCC v6 Stage A term that refers to the staging of lung carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0005138 +MONDO:0858498 penile cancer by ajcc v6 stage NCIT:C90520 MONDO:equivalentTo Penile Cancer by AJCC v6 Stage A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0006360 +MONDO:0858499 prostate cancer by ajcc v6 stage NCIT:C90521 MONDO:equivalentTo Prostate Cancer by AJCC v6 Stage A term that refers to the staging of prostate carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0005159 +MONDO:0858502 pharyngeal carcinoma by ajcc v6 stage NCIT:C90525 MONDO:equivalentTo Pharyngeal Carcinoma by AJCC v6 Stage A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0021345 +MONDO:0858503 laryngeal cancer by ajcc v6 stage NCIT:C90527 MONDO:equivalentTo Laryngeal Cancer by AJCC v6 Stage A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0002358 +MONDO:0858504 sinonasal cancer by ajcc v6 stage NCIT:C90528 MONDO:equivalentTo Sinonasal Cancer by AJCC v6 Stage A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 6th edition. MONDO:0056819 +MONDO:0858510 kaposi sarcoma related to immunosuppressive treatment NCIT:C9113 MONDO:equivalentTo Kaposi Sarcoma Related to Immunosuppressive Treatment A Kaposi sarcoma that develops after immunosuppressive treatment. MONDO:0005188 +MONDO:0858511 renal cell cancer by ajcc v7 stage NCIT:C91201 MONDO:equivalentTo Renal Cell Cancer by AJCC v7 Stage A term that refers to the staging of renal cell cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0005549 +MONDO:0858512 bladder cancer by ajcc v7 stage NCIT:C91202 MONDO:equivalentTo Bladder Cancer by AJCC v7 Stage A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0004986 +MONDO:0858513 vulvar cancer by ajcc v7 stage NCIT:C91203 MONDO:equivalentTo Vulvar Cancer by AJCC v7 Stage A term that refers to the staging of vulvar carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0005215 +MONDO:0858514 vaginal cancer by ajcc v7 stage NCIT:C91204 MONDO:equivalentTo Vaginal Cancer by AJCC v7 Stage A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0015867 +MONDO:0858515 cervical cancer by ajcc v7 stage NCIT:C91208 MONDO:equivalentTo Cervical Cancer by AJCC v7 Stage A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0005131 +MONDO:0858516 uterine corpus cancer by ajcc v7 stage NCIT:C91218 MONDO:equivalentTo Uterine Corpus Cancer by AJCC v7 Stage A term that refers to the staging of uterine corpus cancer (carcinoma or carcinosarcoma) according to the American Joint Committee on Cancer, 7th edition. MONDO:0006003 +MONDO:0858517 fallopian tube cancer by ajcc v7 stage NCIT:C91219 MONDO:equivalentTo Fallopian Tube Cancer by AJCC v7 Stage A term that refers to the staging of fallopian tube carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0006206 +MONDO:0858518 esophageal cancer by ajcc v7 stage NCIT:C91221 MONDO:equivalentTo Esophageal Cancer by AJCC v7 Stage A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0019086 +MONDO:0858519 gastric cancer by ajcc v7 stage NCIT:C91222 MONDO:equivalentTo Gastric Cancer by AJCC v7 Stage A term that refers to the staging of gastric carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0004950 +MONDO:0858520 colorectal cancer by ajcc v7 stage NCIT:C91223 MONDO:equivalentTo Colorectal Cancer by AJCC v7 Stage A term that refers to the staging of colorectal carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0024331 +MONDO:0858522 hepatocellular carcinoma by ajcc v7 stage NCIT:C91228 MONDO:equivalentTo Hepatocellular Carcinoma by AJCC v7 Stage A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0007256 +MONDO:0858523 gallbladder cancer by ajcc v7 stage NCIT:C91229 MONDO:equivalentTo Gallbladder Cancer by AJCC v7 Stage A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0003220 +MONDO:0858524 breast cancer by ajcc v7 stage NCIT:C91230 MONDO:equivalentTo Breast Cancer by AJCC v7 Stage A term that refers to the staging of breast cancer according to the American Joint Committee on Cancer, 7th edition. MONDO:0004989 +MONDO:0858525 cutaneous melanoma by ajcc v7 stage NCIT:C91231 MONDO:equivalentTo Cutaneous Melanoma by AJCC v7 Stage A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system. MONDO:0005012 +MONDO:0858526 lung cancer by ajcc v7 stage NCIT:C91232 MONDO:equivalentTo Lung Cancer by AJCC v7 Stage A term that refers to the staging of lung carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0005138 +MONDO:0858527 prostate cancer by ajcc v7 stage NCIT:C91233 MONDO:equivalentTo Prostate Cancer by AJCC v7 Stage A term that refers to the staging of prostate carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0005159 +MONDO:0858528 penile cancer by ajcc v7 stage NCIT:C91234 MONDO:equivalentTo Penile Cancer by AJCC v7 Stage A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0006360 +MONDO:0858531 pharyngeal carcinoma by ajcc v7 stage NCIT:C91252 MONDO:equivalentTo Pharyngeal Carcinoma by AJCC v7 Stage A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0021345 +MONDO:0858532 sinonasal cancer by ajcc v7 stage NCIT:C91255 MONDO:equivalentTo Sinonasal Cancer by AJCC v7 Stage A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0056819 +MONDO:0858533 laryngeal cancer by ajcc v7 stage NCIT:C91256 MONDO:equivalentTo Laryngeal Cancer by AJCC v7 Stage A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 7th edition. MONDO:0002358 +MONDO:0858534 chronic myeloid leukemia, philadelphia chromosome positive, bcr-abl1 positive NCIT:C9128 MONDO:equivalentTo Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive A chronic myeloid leukemia characterized by the t(9;22)(q34;q11) chromosomal translocation, resulting in the presence of the Philadelphia chromosome and the BCR-ABL1 fusion gene. MONDO:0024685|MONDO:0011996 +MONDO:0858535 adult rhabdomyosarcoma NCIT:C9130 MONDO:equivalentTo Adult Rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in adults. MONDO:0005212 +MONDO:0858536 invasive breast carcinoma of no special type with predominant intraductal component NCIT:C9132 MONDO:equivalentTo Invasive Breast Carcinoma of No Special Type with Predominant Intraductal Component An invasive breast carcinoma of no special type characterized by the presence of a predominant ductal carcinoma in situ component and a minor component of invasive carcinoma. MONDO:0004953 +MONDO:0858537 invasive breast lobular carcinoma with predominant in situ component NCIT:C9136 MONDO:equivalentTo Invasive Breast Lobular Carcinoma with Predominant In Situ Component A breast carcinoma characterized by the presence of a predominant lobular carcinoma in situ component and a minor component of invasive carcinoma. MONDO:0005051 +MONDO:0858538 adult acute myeloid leukemia NCIT:C9154 MONDO:equivalentTo Adult Acute Myeloid Leukemia An acute myeloid leukemia occurring in adults. MONDO:0018874 +MONDO:0858543 testicular mixed embryonal carcinoma and yolk sac tumor with seminoma NCIT:C9172 MONDO:equivalentTo Testicular Mixed Embryonal Carcinoma and Yolk Sac Tumor with Seminoma A malignant germ cell tumor arising from the testis. It is characterized by a mixture of embryonal carcinoma, yolk sac, and seminomatous morphologic elements. Patients may present with painless or painful testicular swelling. MONDO:0003120 +MONDO:0858546 good prognosis metastatic gestational trophoblastic tumor NCIT:C9177 MONDO:equivalentTo Good Prognosis Metastatic Gestational Trophoblastic Tumor Metastatic gestational trophoblastic tumor in which risk factors are absent. MONDO:0018944 +MONDO:0858547 poor prognosis metastatic gestational trophoblastic tumor NCIT:C9178 MONDO:equivalentTo Poor Prognosis Metastatic Gestational Trophoblastic Tumor Metastatic gestational trophoblastic tumor in which risk factors are present. MONDO:0018944 +MONDO:0858549 intraocular schwannoma NCIT:C92182 MONDO:equivalentTo Intraocular Schwannoma A benign schwannoma occurring in the eye. MONDO:0021454|MONDO:0004820 +MONDO:0858550 esophageal malignant peripheral nerve sheath tumor NCIT:C92185 MONDO:equivalentTo Esophageal Malignant Peripheral Nerve Sheath Tumor A malignant peripheral nerve sheath tumor that affects the esophageal wall. MONDO:0001204|MONDO:0017827 +MONDO:0858551 intraocular malignant peripheral nerve sheath tumor NCIT:C92186 MONDO:equivalentTo Intraocular Malignant Peripheral Nerve Sheath Tumor A malignant peripheral nerve sheath tumor that occurs in the intraocular area. MONDO:0002236|MONDO:0017827 +MONDO:0858558 non-hematologic malignancy NCIT:C9226 MONDO:equivalentTo Non-Hematologic Malignancy A malignant neoplasm that arises from a site other than the bone marrow and lymphoid tissue. MONDO:0004992 +MONDO:0858562 recurrent malignant hemangiopericytoma NCIT:C9254 MONDO:equivalentTo Recurrent Malignant Hemangiopericytoma A rare malignant mesenchymal neoplasm, believed to have its origin in smooth muscle derived pericytes, which has recurred after treatment. MONDO:0009330 +MONDO:0858563 multifocal glioblastomas NCIT:C92549 MONDO:equivalentTo Multifocal Glioblastomas The occurrence of multiple and independent glioblastomas that are unrelated to inherited neoplastic syndromes. MONDO:0018177 +MONDO:0858565 glioneuronal tumor with neuropil-like islands NCIT:C92550 MONDO:equivalentTo Glioneuronal Tumor with Neuropil-Like Islands A rare, WHO grade II or III infiltrating astrocytoma characterized by the presence of sharply demarcated foci, composed of a neuropil-like matrix. MONDO:0019781 +MONDO:0858569 anaplastic medulloblastoma NCIT:C92625 MONDO:equivalentTo Anaplastic Medulloblastoma A medulloblastoma characterized by marked nuclear pleomorphism, and high mitotic activity. MONDO:0007959 +MONDO:0858573 malignant peripheral nerve sheath tumor with mesenchymal differentiation NCIT:C92647 MONDO:equivalentTo Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component. MONDO:0017827 +MONDO:0858574 mycosis fungoides and sezary syndrome NCIT:C9265 MONDO:equivalentTo Mycosis Fungoides and Sezary Syndrome Mature T and NK neoplasms predominantly affecting the skin and the peripheral blood. Peripheral blood involvement by abnormal T-cells (cerebriform cells) is a late manifestation of mycosis fungoides, whereas it is the presenting finding in Sezary syndrome. MONDO:0000430 +MONDO:0858580 advanced malignant neoplasm NCIT:C9270 MONDO:equivalentTo Advanced Malignant Neoplasm A malignant neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment. MONDO:0024880 +MONDO:0858584 lymphocyte-depleted classic hodgkin lymphoma NCIT:C9283 MONDO:equivalentTo Lymphocyte-Depleted Classic Hodgkin Lymphoma A diffuse subtype of classic Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) MONDO:0009348 +MONDO:0858585 central nervous system histiocytic and dendritic cell neoplasm NCIT:C92944 MONDO:equivalentTo Central Nervous System Histiocytic and Dendritic Cell Neoplasm A neoplasm that originates from histiocytes and accessory cells and affects the central nervous system. It is usually associated with the presence of identical tumors outside the central nervous system. Representative examples include Langerhans cell histiocytosis, histiocytic sarcoma, and follicular dendritic cell sarcoma. MONDO:0006247|MONDO:0003641 +MONDO:0858588 peritoneal malignant mesothelioma NCIT:C9350 MONDO:equivalentTo Peritoneal Malignant Mesothelioma An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. MONDO:0006292|MONDO:0002087|MONDO:0006362 +MONDO:0858595 combined lung small cell carcinoma and lung adenocarcinoma NCIT:C9379 MONDO:equivalentTo Combined Lung Small Cell Carcinoma and Lung Adenocarcinoma A lung carcinoma characterized by a combination of small cell carcinoma and adenocarcinoma. MONDO:0003438 +MONDO:0858597 well differentiated malignant hemangiopericytoma NCIT:C9392 MONDO:equivalentTo Well Differentiated Malignant Hemangiopericytoma A malignant hemangiopericytoma with well-differentiated morphological features. MONDO:0009330 MONDO:0858598 malignant hemangiopericytoma nci grade 2 NCIT:C9393 MONDO:equivalentTo Malignant Hemangiopericytoma NCI Grade 2 MONDO:0002789 MONDO:0858599 malignant hemangiopericytoma nci grade 3 NCIT:C9394 MONDO:equivalentTo Malignant Hemangiopericytoma NCI Grade 3 MONDO:0002789 MONDO:0858600 round cell liposarcoma nci grade 2 NCIT:C9401 MONDO:equivalentTo Round Cell Liposarcoma NCI Grade 2 MONDO:0005238 MONDO:0858601 round cell liposarcoma nci grade 3 NCIT:C9402 MONDO:equivalentTo Round Cell Liposarcoma NCI Grade 3 MONDO:0005238 -MONDO:0858603 childhood hematopoietic and lymphoid cell neoplasm NCIT:C9431 MONDO:equivalentTo Childhood Hematopoietic and Lymphoid Cell Neoplasm MONDO:0021079|MONDO:0044881 -MONDO:0858619 grade 1 colorectal adenocarcinoma NCIT:C9446 MONDO:equivalentTo Grade 1 Colorectal Adenocarcinoma MONDO:0005008 -MONDO:0858620 grade 2 colorectal adenocarcinoma NCIT:C9447 MONDO:equivalentTo Grade 2 Colorectal Adenocarcinoma MONDO:0005008 -MONDO:0858621 grade 3 colorectal adenocarcinoma NCIT:C9448 MONDO:equivalentTo Grade 3 Colorectal Adenocarcinoma MONDO:0005008 -MONDO:0858623 spindle cell oncocytoma NCIT:C94537 MONDO:equivalentTo Spindle Cell Oncocytoma MONDO:0003257|MONDO:0010795 -MONDO:0858625 breast ductal carcinoma in situ, intermediate grade NCIT:C9456 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Intermediate Grade MONDO:0005023 -MONDO:0858626 breast ductal carcinoma in situ, low grade NCIT:C9457 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Low Grade MONDO:0005023 -MONDO:0858627 borderline ovarian brenner tumor NCIT:C9459 MONDO:equivalentTo Borderline Ovarian Brenner Tumor MONDO:0016093|MONDO:0002370 -MONDO:0858628 systemic anaplastic large cell lymphoma NCIT:C9470 MONDO:equivalentTo Systemic Anaplastic Large Cell Lymphoma MONDO:0020325 -MONDO:0858630 meningeal leukemia NCIT:C94754 MONDO:equivalentTo Meningeal Leukemia MONDO:0001606|MONDO:0700219 -MONDO:0858631 meningeal lymphoma NCIT:C94756 MONDO:equivalentTo Meningeal Lymphoma MONDO:0002571|MONDO:0021322 -MONDO:0858632 multifocal breast carcinoma NCIT:C94770 MONDO:equivalentTo Multifocal Breast Carcinoma MONDO:0004989 -MONDO:0858633 multicentric breast carcinoma NCIT:C94772 MONDO:equivalentTo Multicentric Breast Carcinoma MONDO:0004989 -MONDO:0858634 early stage breast carcinoma NCIT:C94774 MONDO:equivalentTo Early Stage Breast Carcinoma MONDO:0004989 -MONDO:0858635 hereditary malignant neoplasm NCIT:C9479 MONDO:equivalentTo Hereditary Malignant Neoplasm MONDO:0004992 -MONDO:0858637 stage i borderline ovarian surface epithelial-stromal tumor NCIT:C94821 MONDO:equivalentTo Stage I Borderline Ovarian Surface Epithelial-Stromal Tumor MONDO:0016093 -MONDO:0858638 stage ii borderline ovarian surface epithelial-stromal tumor NCIT:C94822 MONDO:equivalentTo Stage II Borderline Ovarian Surface Epithelial-Stromal Tumor MONDO:0016093 -MONDO:0858639 stage iii borderline ovarian surface epithelial-stromal tumor NCIT:C94824 MONDO:equivalentTo Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor MONDO:0016093 -MONDO:0858640 stage iv borderline ovarian surface epithelial-stromal tumor NCIT:C94825 MONDO:equivalentTo Stage IV Borderline Ovarian Surface Epithelial-Stromal Tumor MONDO:0016093 -MONDO:0858648 melanocytoma NCIT:C9498 MONDO:equivalentTo Melanocytoma MONDO:0021143 -MONDO:0858649 myolipoma NCIT:C9502 MONDO:equivalentTo Myolipoma MONDO:0005106 -MONDO:0858650 thymoliposarcoma NCIT:C95038 MONDO:equivalentTo Thymoliposarcoma MONDO:0003601|MONDO:0002586 -MONDO:0858651 ectopic cervical thymoma NCIT:C95048 MONDO:equivalentTo Ectopic Cervical Thymoma MONDO:0006456|MONDO:0021351 -MONDO:0858656 intramucosal adenocarcinoma NCIT:C95397 MONDO:equivalentTo Intramucosal Adenocarcinoma MONDO:0004970 -MONDO:0858658 pancreatic well differentiated ductal adenocarcinoma NCIT:C95426 MONDO:equivalentTo Pancreatic Well Differentiated Ductal Adenocarcinoma MONDO:0005184 -MONDO:0858659 pancreatic moderately differentiated ductal adenocarcinoma NCIT:C95427 MONDO:equivalentTo Pancreatic Moderately Differentiated Ductal Adenocarcinoma MONDO:0005184 -MONDO:0858660 pancreatic poorly differentiated ductal adenocarcinoma NCIT:C95428 MONDO:equivalentTo Pancreatic Poorly Differentiated Ductal Adenocarcinoma MONDO:0005184 -MONDO:0858661 pancreatic mixed acinar-ductal carcinoma NCIT:C95458 MONDO:equivalentTo Pancreatic Mixed Acinar-Ductal Carcinoma MONDO:0006047 -MONDO:0858662 pancreatic mixed ductal adenocarcinoma-acinar carcinoma-neuroendocrine carcinoma NCIT:C95460 MONDO:equivalentTo Pancreatic Mixed Ductal Adenocarcinoma-Acinar Carcinoma-Neuroendocrine Carcinoma MONDO:0044727 -MONDO:0858663 pancreatic hepatoid adenocarcinoma NCIT:C95465 MONDO:equivalentTo Pancreatic Hepatoid Adenocarcinoma MONDO:0005184|MONDO:0006243 -MONDO:0858664 pancreatic medullary carcinoma NCIT:C95466 MONDO:equivalentTo Pancreatic Medullary Carcinoma MONDO:0005184 -MONDO:0858665 pancreatic serous adenoma NCIT:C95470 MONDO:equivalentTo Pancreatic Serous Adenoma MONDO:0021441|MONDO:0002810|MONDO:0036976 -MONDO:0858666 pancreatic intraductal neoplasm NCIT:C95505 MONDO:equivalentTo Pancreatic Intraductal Neoplasm MONDO:0024276|MONDO:0021076 -MONDO:0858667 pancreatic intraductal papillary mucinous neoplasm, gastric-type NCIT:C95508 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type MONDO:0004286 -MONDO:0858668 pancreatic intraductal papillary mucinous neoplasm, intestinal-type NCIT:C95510 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type MONDO:0004286 -MONDO:0858669 pancreatic intraductal papillary mucinous neoplasm, pancreatobiliary-type NCIT:C95512 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type MONDO:0004286 -MONDO:0858675 non-functioning pancreatic neuroendocrine tumor g1 NCIT:C95585 MONDO:equivalentTo Non-Functioning Pancreatic Neuroendocrine Tumor G1 MONDO:0021535|MONDO:0004334 -MONDO:0858676 pancreatic vipoma NCIT:C95599 MONDO:equivalentTo Pancreatic Vipoma MONDO:0023206|MONDO:0003622 -MONDO:0858677 esophageal spindle cell carcinoma NCIT:C95608 MONDO:equivalentTo Esophageal Spindle Cell Carcinoma MONDO:0005580|MONDO:0021663 -MONDO:0858678 esophageal well differentiated squamous cell carcinoma NCIT:C95610 MONDO:equivalentTo Esophageal Well Differentiated Squamous Cell Carcinoma MONDO:0005580 -MONDO:0858679 esophageal moderately differentiated squamous cell carcinoma NCIT:C95611 MONDO:equivalentTo Esophageal Moderately Differentiated Squamous Cell Carcinoma MONDO:0005580 -MONDO:0858680 esophageal poorly differentiated squamous cell carcinoma NCIT:C95612 MONDO:equivalentTo Esophageal Poorly Differentiated Squamous Cell Carcinoma MONDO:0005580 -MONDO:0858681 esophageal mixed adenoneuroendocrine carcinoma NCIT:C95621 MONDO:equivalentTo Esophageal Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0019086 -MONDO:0858683 esophageal synovial sarcoma NCIT:C95624 MONDO:equivalentTo Esophageal Synovial Sarcoma MONDO:0001204|MONDO:0010434 -MONDO:0858686 gastric adenoma, gastric-type NCIT:C95775 MONDO:equivalentTo Gastric Adenoma, Gastric-Type MONDO:0006221 -MONDO:0858689 gastric mixed adenoneuroendocrine carcinoma NCIT:C95886 MONDO:equivalentTo Gastric Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0004950 -MONDO:0858691 gastric schwannoma NCIT:C95901 MONDO:equivalentTo Gastric Schwannoma MONDO:0004820|MONDO:0021449 -MONDO:0858693 ampulla of vater pancreatobiliary type adenocarcinoma NCIT:C95963 MONDO:equivalentTo Ampulla of Vater Pancreatobiliary Type Adenocarcinoma MONDO:0002670 -MONDO:0858694 ampulla of vater hepatoid adenocarcinoma NCIT:C95966 MONDO:equivalentTo Ampulla of Vater Hepatoid Adenocarcinoma MONDO:0006243|MONDO:0002670 -MONDO:0858695 ampulla of vater neuroendocrine neoplasm NCIT:C95980 MONDO:equivalentTo Ampulla of Vater Neuroendocrine Neoplasm MONDO:0000921|MONDO:0024503 -MONDO:0858696 ampulla of vater mixed adenoneuroendocrine carcinoma NCIT:C95986 MONDO:equivalentTo Ampulla of Vater Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0017590 -MONDO:0858702 intestinal neuroendocrine tumor NCIT:C96062 MONDO:equivalentTo Intestinal Neuroendocrine Tumor MONDO:0000386|MONDO:0002883 -MONDO:0858703 small intestinal mixed adenoneuroendocrine carcinoma NCIT:C96066 MONDO:equivalentTo Small Intestinal Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0005522 -MONDO:0858705 colorectal neuroendocrine neoplasm NCIT:C96152 MONDO:equivalentTo Colorectal Neuroendocrine Neoplasm MONDO:0002883|MONDO:0005335 -MONDO:0858706 colorectal mixed adenoneuroendocrine carcinoma NCIT:C96158 MONDO:equivalentTo Colorectal Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0024331 -MONDO:0858707 digestive system neuroendocrine tumor g2 NCIT:C96166 MONDO:equivalentTo Digestive System Neuroendocrine Tumor G2 MONDO:0000386|MONDO:0006095 -MONDO:0858715 serrated lesions and polyps NCIT:C96414 MONDO:equivalentTo Serrated Lesions and Polyps MONDO:0006180 -MONDO:0858717 appendix enterochromaffin cell serotonin-producing neuroendocrine tumor NCIT:C96424 MONDO:equivalentTo Appendix Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor MONDO:0015066 -MONDO:0858721 rectal serrated lesions and polyps NCIT:C96465 MONDO:equivalentTo Rectal Serrated Lesions and Polyps MONDO:0006164|MONDO:0000530|MONDO:0021398 -MONDO:0858725 colon serrated adenocarcinoma NCIT:C96486 MONDO:equivalentTo Colon Serrated Adenocarcinoma MONDO:0006163|MONDO:0002271 -MONDO:0858726 rectal serrated adenocarcinoma NCIT:C96487 MONDO:equivalentTo Rectal Serrated Adenocarcinoma MONDO:0006163|MONDO:0002169 -MONDO:0858729 colorectal sarcomatoid carcinoma NCIT:C96494 MONDO:equivalentTo Colorectal Sarcomatoid Carcinoma MONDO:0024331|MONDO:0006406 -MONDO:0858735 colorectal schwannoma NCIT:C96512 MONDO:equivalentTo Colorectal Schwannoma MONDO:0021444|MONDO:0004820 -MONDO:0858736 colorectal ganglioneuroma NCIT:C96514 MONDO:equivalentTo Colorectal Ganglioneuroma MONDO:0021444|MONDO:0005033 -MONDO:0858737 colorectal benign granular cell tumor NCIT:C96516 MONDO:equivalentTo Colorectal Benign Granular Cell Tumor MONDO:0021444|MONDO:0003250 -MONDO:0858738 anal canal undifferentiated carcinoma NCIT:C96529 MONDO:equivalentTo Anal Canal Undifferentiated Carcinoma MONDO:0007108|MONDO:0005617 -MONDO:0858741 anal canal mixed adenoneuroendocrine carcinoma NCIT:C96553 MONDO:equivalentTo Anal Canal Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0007108 -MONDO:0858742 anal canal squamous papilloma NCIT:C96554 MONDO:equivalentTo Anal Canal Squamous Papilloma MONDO:0021469|MONDO:0060766|MONDO:0001825 -MONDO:0858743 anal hidradenoma papilliferum NCIT:C96699 MONDO:equivalentTo Anal Hidradenoma Papilliferum MONDO:0021469|MONDO:0003446 -MONDO:0858745 hnf1alpha-inactivated hepatocellular adenoma NCIT:C96758 MONDO:equivalentTo HNF1alpha-Inactivated Hepatocellular Adenoma MONDO:0018902 -MONDO:0858746 beta-catenin-activated hepatocellular adenoma NCIT:C96759 MONDO:equivalentTo Beta-Catenin-Activated Hepatocellular Adenoma MONDO:0018902 -MONDO:0858747 inflammatory hepatocellular adenoma NCIT:C96760 MONDO:equivalentTo Inflammatory Hepatocellular Adenoma MONDO:0018902 -MONDO:0858748 unclassified hepatocellular adenoma NCIT:C96761 MONDO:equivalentTo Unclassified Hepatocellular Adenoma MONDO:0018902 -MONDO:0858750 liver neuroendocrine neoplasm NCIT:C96786 MONDO:equivalentTo Liver Neuroendocrine Neoplasm MONDO:0024477|MONDO:0024503 -MONDO:0858751 lymphocyte-rich hepatocellular carcinoma NCIT:C96788 MONDO:equivalentTo Lymphocyte-Rich Hepatocellular Carcinoma MONDO:0007256 -MONDO:0858752 well differentiated hepatocellular carcinoma NCIT:C96789 MONDO:equivalentTo Well Differentiated Hepatocellular Carcinoma MONDO:0007256 -MONDO:0858753 moderately differentiated hepatocellular carcinoma NCIT:C96790 MONDO:equivalentTo Moderately Differentiated Hepatocellular Carcinoma MONDO:0007256 -MONDO:0858754 poorly differentiated hepatocellular carcinoma NCIT:C96791 MONDO:equivalentTo Poorly Differentiated Hepatocellular Carcinoma MONDO:0007256 -MONDO:0858755 liver undifferentiated carcinoma NCIT:C96792 MONDO:equivalentTo Liver Undifferentiated Carcinoma MONDO:0018531|MONDO:0005617 -MONDO:0858756 small duct intrahepatic cholangiocarcinoma NCIT:C96805 MONDO:equivalentTo Small Duct Intrahepatic Cholangiocarcinoma MONDO:0003210 -MONDO:0858757 bile duct intraductal papillary neoplasm with an associated invasive carcinoma NCIT:C96810 MONDO:equivalentTo Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma MONDO:0003455|MONDO:0003193 -MONDO:0858758 extrahepatic bile duct tubulopapillary adenoma NCIT:C96811 MONDO:equivalentTo Extrahepatic Bile Duct Tubulopapillary Adenoma MONDO:0003445|MONDO:0024661 -MONDO:0858760 liver synovial sarcoma NCIT:C96845 MONDO:equivalentTo Liver Synovial Sarcoma MONDO:0002397|MONDO:0010434 -MONDO:0858761 liver carcinosarcoma NCIT:C96848 MONDO:equivalentTo Liver Carcinosarcoma MONDO:0018531|MONDO:0002928 -MONDO:0858765 gallbladder mucinous cystic neoplasm NCIT:C96881 MONDO:equivalentTo Gallbladder Mucinous Cystic Neoplasm MONDO:0021253 -MONDO:0858766 gallbladder carcinosarcoma NCIT:C96888 MONDO:equivalentTo Gallbladder Carcinosarcoma MONDO:0003220|MONDO:0002928 -MONDO:0858767 gallbladder hepatoid adenocarcinoma NCIT:C96890 MONDO:equivalentTo Gallbladder Hepatoid Adenocarcinoma MONDO:0006215|MONDO:0006243 -MONDO:0858768 gallbladder cribriform carcinoma NCIT:C96891 MONDO:equivalentTo Gallbladder Cribriform Carcinoma MONDO:0006215|MONDO:0006176 -MONDO:0858769 gallbladder adenocarcinoma, biliary type NCIT:C96915 MONDO:equivalentTo Gallbladder Adenocarcinoma, Biliary Type MONDO:0006215|MONDO:0005606 -MONDO:0858770 gallbladder adenocarcinoma, gastric foveolar type NCIT:C96916 MONDO:equivalentTo Gallbladder Adenocarcinoma, Gastric Foveolar Type MONDO:0006215 -MONDO:0858774 gallbladder mixed adenoneuroendocrine carcinoma NCIT:C96927 MONDO:equivalentTo Gallbladder Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0003220 -MONDO:0858775 gallbladder tubular carcinoid NCIT:C96930 MONDO:equivalentTo Gallbladder Tubular Carcinoid MONDO:0015073 -MONDO:0858776 extrahepatic bile duct adenocarcinoma, biliary type NCIT:C96936 MONDO:equivalentTo Extrahepatic Bile Duct Adenocarcinoma, Biliary Type MONDO:0002665|MONDO:0005606 -MONDO:0858777 extrahepatic bile duct adenocarcinoma, gastric foveolar type NCIT:C96937 MONDO:equivalentTo Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type MONDO:0002665 -MONDO:0858778 extrahepatic bile duct adenocarcinoma, intestinal type NCIT:C96938 MONDO:equivalentTo Extrahepatic Bile Duct Adenocarcinoma, Intestinal Type MONDO:0002665 -MONDO:0858779 extrahepatic bile duct carcinosarcoma NCIT:C96939 MONDO:equivalentTo Extrahepatic Bile Duct Carcinosarcoma MONDO:0003090|MONDO:0002928 -MONDO:0858780 extrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma NCIT:C96946 MONDO:equivalentTo Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma MONDO:0002665|MONDO:0004462|MONDO:0002868 -MONDO:0858781 intrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma NCIT:C96947 MONDO:equivalentTo Intrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma MONDO:0003979|MONDO:0018531|MONDO:0002868 -MONDO:0858783 extrahepatic bile duct lymphoma NCIT:C96952 MONDO:equivalentTo Extrahepatic Bile Duct Lymphoma MONDO:0021321|MONDO:0004699 -MONDO:0858785 extrahepatic bile duct neuroendocrine neoplasm NCIT:C96954 MONDO:equivalentTo Extrahepatic Bile Duct Neuroendocrine Neoplasm MONDO:0021385|MONDO:0024503 -MONDO:0858786 extrahepatic bile duct mixed adenoneuroendocrine carcinoma NCIT:C96959 MONDO:equivalentTo Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma MONDO:0006182|MONDO:0003090 -MONDO:0858788 invasive breast lobular carcinoma, alveolar variant NCIT:C97049 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Alveolar Variant MONDO:0005051 -MONDO:0858789 invasive breast lobular carcinoma, pleomorphic variant NCIT:C97051 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Pleomorphic Variant MONDO:0005051 -MONDO:0858790 invasive breast lobular carcinoma, solid variant NCIT:C97052 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Solid Variant MONDO:0005051 -MONDO:0858791 invasive breast lobular carcinoma, tubulolobular variant NCIT:C97053 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Tubulolobular Variant MONDO:0005051 -MONDO:0858792 mixed congenital mesoblastic nephroma NCIT:C97058 MONDO:equivalentTo Mixed Congenital Mesoblastic Nephroma MONDO:0017043|MONDO:0005853 -MONDO:0858851 contralateral breast carcinoma NCIT:C99390 MONDO:equivalentTo Contralateral Breast Carcinoma MONDO:0003982 +MONDO:0858603 childhood hematopoietic and lymphoid cell neoplasm NCIT:C9431 MONDO:equivalentTo Childhood Hematopoietic and Lymphoid Cell Neoplasm A neoplasm of hematopoietic and lymphoid cell origin that occurs during childhood. Representative examples include acute leukemias and lymphomas. MONDO:0021079|MONDO:0044881 +MONDO:0858619 grade 1 colorectal adenocarcinoma NCIT:C9446 MONDO:equivalentTo Grade 1 Colorectal Adenocarcinoma A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with more than 95% glandular formation. MONDO:0005008 +MONDO:0858620 grade 2 colorectal adenocarcinoma NCIT:C9447 MONDO:equivalentTo Grade 2 Colorectal Adenocarcinoma A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with 50-95% glandular formation. MONDO:0005008 +MONDO:0858621 grade 3 colorectal adenocarcinoma NCIT:C9448 MONDO:equivalentTo Grade 3 Colorectal Adenocarcinoma A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation. MONDO:0005008 +MONDO:0858623 spindle cell oncocytoma NCIT:C94537 MONDO:equivalentTo Spindle Cell Oncocytoma A very rare, WHO grade 1 neoplasm of the posterior pituitary. It is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. Electron microscopic studies demonstrate the accumulation of intracytoplasmic mitochondria and lack of secretory granules. Immunohistochemical studies are negative for pituitary hormones. Patients may present with pituitary hypofunction, visual disturbances, headache, nausea and vomiting. The clinical course is usually benign. MONDO:0010795|MONDO:0003257 +MONDO:0858625 breast ductal carcinoma in situ, intermediate grade NCIT:C9456 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Intermediate Grade Breast ductal carcinoma in situ characterized by the presence of monomorphic neoplastic cells that form cribriform, micropapillary, or solid patterns. Intraluminal necrosis is present in some ducts. Ducts that contain neoplastic cells with occasional nucleoli and coarse chromatin may also be present. MONDO:0005023 +MONDO:0858626 breast ductal carcinoma in situ, low grade NCIT:C9457 MONDO:equivalentTo Breast Ductal Carcinoma In Situ, Low Grade Breast ductal carcinoma in situ characterized by the presence of small, monomorphic neoplastic cells that form cribriform, micropapillary, or solid patterns. The nuclei are uniform and mitotic figures are rare. MONDO:0005023 +MONDO:0858627 borderline ovarian brenner tumor NCIT:C9459 MONDO:equivalentTo Borderline Ovarian Brenner Tumor A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic atypical urothelial-type cells in a fibrotic stroma without evidence of invasion. MONDO:0016093|MONDO:0002370 +MONDO:0858628 systemic anaplastic large cell lymphoma NCIT:C9470 MONDO:equivalentTo Systemic Anaplastic Large Cell Lymphoma An anaplastic large cell lymphoma that is not confined to a single anatomic site and involves multiple nodal and/or extranodal sites. MONDO:0020325 +MONDO:0858630 meningeal leukemia NCIT:C94754 MONDO:equivalentTo Meningeal Leukemia Infiltration of the meninges by an acute or chronic leukemia. MONDO:0700219|MONDO:0001606 +MONDO:0858631 meningeal lymphoma NCIT:C94756 MONDO:equivalentTo Meningeal Lymphoma Involvement of the meninges by Hodgkin or non-Hodgkin lymphoma. MONDO:0002571|MONDO:0021322 +MONDO:0858632 multifocal breast carcinoma NCIT:C94770 MONDO:equivalentTo Multifocal Breast Carcinoma A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from the same clone and are usually located in the same quadrant of the breast. MONDO:0004989 +MONDO:0858633 multicentric breast carcinoma NCIT:C94772 MONDO:equivalentTo Multicentric Breast Carcinoma A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from different clones and are usually located in different quadrants of the breast. MONDO:0004989 +MONDO:0858634 early stage breast carcinoma NCIT:C94774 MONDO:equivalentTo Early Stage Breast Carcinoma Breast carcinoma that has not spread beyond the breast and the axillary lymph nodes. MONDO:0004989 +MONDO:0858635 hereditary malignant neoplasm NCIT:C9479 MONDO:equivalentTo Hereditary Malignant Neoplasm Malignant neoplasms occurring in families at a rate greater than that expected by chance and caused by germline mutations in a specific gene. MONDO:0004992 +MONDO:0858637 stage i borderline ovarian surface epithelial-stromal tumor NCIT:C94821 MONDO:equivalentTo Stage I Borderline Ovarian Surface Epithelial-Stromal Tumor Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0016093 +MONDO:0858638 stage ii borderline ovarian surface epithelial-stromal tumor NCIT:C94822 MONDO:equivalentTo Stage II Borderline Ovarian Surface Epithelial-Stromal Tumor Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0016093 +MONDO:0858639 stage iii borderline ovarian surface epithelial-stromal tumor NCIT:C94824 MONDO:equivalentTo Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor Stage III includes: T3, N0, M0. T3: Tumor involves one or both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) MONDO:0016093 +MONDO:0858640 stage iv borderline ovarian surface epithelial-stromal tumor NCIT:C94825 MONDO:equivalentTo Stage IV Borderline Ovarian Surface Epithelial-Stromal Tumor Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.) MONDO:0016093 +MONDO:0858648 melanocytoma NCIT:C9498 MONDO:equivalentTo Melanocytoma A usually benign neoplasm that arises from the sun-exposed skin, eye, and meninges. It is composed of spindle and/or epithelioid melanocytes and melanophages. It rarely progresses to melanoma. MONDO:0021143 +MONDO:0858649 myolipoma NCIT:C9502 MONDO:equivalentTo Myolipoma A benign extrauterine tumor composed of mature adipocytes and smooth muscle cells. MONDO:0005106 +MONDO:0858650 thymoliposarcoma NCIT:C95038 MONDO:equivalentTo Thymoliposarcoma A liposarcoma that arises from the thymus gland. It is characterized by the presence of a liposarcomatous malignant infiltrate that entraps lobules of thymic tissue. MONDO:0003601|MONDO:0002586 +MONDO:0858651 ectopic cervical thymoma NCIT:C95048 MONDO:equivalentTo Ectopic Cervical Thymoma A thymoma that arises in the cervical region and is not connected with the thymus gland. MONDO:0006456|MONDO:0021351 +MONDO:0858656 intramucosal adenocarcinoma NCIT:C95397 MONDO:equivalentTo Intramucosal Adenocarcinoma A neoplastic lesion that shows morphologic evidence of invasion into the lamina propria or muscularis mucosa. There is no evidence of invasion into the submucosa. Evidence of invasion may refer to stromal invasion by single cells or clusters of cells, presence of atypical and complex glandular architectural patterns beyond those that are present in normal mucosa, desmoplasia, and/or vascular invasion. MONDO:0004970 +MONDO:0858658 pancreatic well differentiated ductal adenocarcinoma NCIT:C95426 MONDO:equivalentTo Pancreatic Well Differentiated Ductal Adenocarcinoma A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures. MONDO:0005184 +MONDO:0858659 pancreatic moderately differentiated ductal adenocarcinoma NCIT:C95427 MONDO:equivalentTo Pancreatic Moderately Differentiated Ductal Adenocarcinoma A pancreatic ductal adenocarcinoma characterized by the presence of medium-sized duct-like structures and small malignant tubular glandular structures. MONDO:0005184 +MONDO:0858660 pancreatic poorly differentiated ductal adenocarcinoma NCIT:C95428 MONDO:equivalentTo Pancreatic Poorly Differentiated Ductal Adenocarcinoma A pancreatic ductal adenocarcinoma characterized by the presence of small and irregular malignant glandular structures, solid sheets of malignant cells, and single malignant cells. MONDO:0005184 +MONDO:0858661 pancreatic mixed acinar-ductal carcinoma NCIT:C95458 MONDO:equivalentTo Pancreatic Mixed Acinar-Ductal Carcinoma A carcinoma that arises from the pancreas showing either extensive mucin accumulation and acinar neoplastic cells or a mixture of columnar or signet-ring cells and acinar neoplastic cells. MONDO:0006047 +MONDO:0858662 pancreatic mixed ductal adenocarcinoma-acinar carcinoma-neuroendocrine carcinoma NCIT:C95460 MONDO:equivalentTo Pancreatic Mixed Ductal Adenocarcinoma-Acinar Carcinoma-Neuroendocrine Carcinoma A very rare carcinoma that arises from the pancreas and is composed of ductal adenocarcinoma, acinar carcinoma, and neuroendocrine carcinoma components. MONDO:0044727 +MONDO:0858663 pancreatic hepatoid adenocarcinoma NCIT:C95465 MONDO:equivalentTo Pancreatic Hepatoid Adenocarcinoma A rare adenocarcinoma that arises from the pancreas. It is characterized by marked hepatocellular differentiation. MONDO:0006243|MONDO:0005184 +MONDO:0858664 pancreatic medullary carcinoma NCIT:C95466 MONDO:equivalentTo Pancreatic Medullary Carcinoma A pancreatic ductal adenocarcinoma characterized by poor differentiation and a prominent syncytial growth pattern. The prognosis is more favorable compared to conventional pancreatic ductal adenocarcinoma. MONDO:0005184 +MONDO:0858665 pancreatic serous adenoma NCIT:C95470 MONDO:equivalentTo Pancreatic Serous Adenoma A benign, non-metastasizing, usually cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. MONDO:0021441|MONDO:0002810|MONDO:0036976 +MONDO:0858666 pancreatic intraductal neoplasm NCIT:C95505 MONDO:equivalentTo Pancreatic Intraductal Neoplasm A group of cystic or mass-forming epithelial neoplasms that arise from the exocrine pancreas, exhibit ductal differentiation, and grow mostly within the pancreatic ducts. This group includes the pancreatic intraductal papillary mucinous neoplasms and the pancreatic intraductal tubulopapillary neoplasms. MONDO:0024276|MONDO:0021076 +MONDO:0858667 pancreatic intraductal papillary mucinous neoplasm, gastric-type NCIT:C95508 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that are similar to gastric foveolar epithelial cells. MONDO:0004286 +MONDO:0858668 pancreatic intraductal papillary mucinous neoplasm, intestinal-type NCIT:C95510 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form tall papillae, similar to those that are present in colonic villous adenomas. MONDO:0004286 +MONDO:0858669 pancreatic intraductal papillary mucinous neoplasm, pancreatobiliary-type NCIT:C95512 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form thin-branching papillae and exhibit high grade dysplasia. MONDO:0004286 +MONDO:0858675 non-functioning pancreatic neuroendocrine tumor g1 NCIT:C95585 MONDO:equivalentTo Non-Functioning Pancreatic Neuroendocrine Tumor G1 A low grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. MONDO:0004334|MONDO:0021535 +MONDO:0858676 pancreatic vipoma NCIT:C95599 MONDO:equivalentTo Pancreatic Vipoma A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis. MONDO:0023206|MONDO:0003622 +MONDO:0858677 esophageal spindle cell carcinoma NCIT:C95608 MONDO:equivalentTo Esophageal Spindle Cell Carcinoma An esophageal squamous cell carcinoma characterized by the presence of a spindle-cell carcinomatous component. Crossly it has a polypoid appearance and usually arises from the middle or lower third of the esophagus. MONDO:0005580|MONDO:0021663 +MONDO:0858678 esophageal well differentiated squamous cell carcinoma NCIT:C95610 MONDO:equivalentTo Esophageal Well Differentiated Squamous Cell Carcinoma An esophageal squamous cell carcinoma characterized by the presence of prominent keratinization and low mitotic activity. MONDO:0005580 +MONDO:0858679 esophageal moderately differentiated squamous cell carcinoma NCIT:C95611 MONDO:equivalentTo Esophageal Moderately Differentiated Squamous Cell Carcinoma An esophageal squamous cell carcinoma characterized by the presence of variable morphologic characteristics that include areas of prominent and poor keratinization. MONDO:0005580 +MONDO:0858680 esophageal poorly differentiated squamous cell carcinoma NCIT:C95612 MONDO:equivalentTo Esophageal Poorly Differentiated Squamous Cell Carcinoma An esophageal squamous cell carcinoma characterized by the presence of basal-like malignant squamous cells that form nests, often associated with central necrosis. MONDO:0005580 +MONDO:0858681 esophageal mixed adenoneuroendocrine carcinoma NCIT:C95621 MONDO:equivalentTo Esophageal Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the esophagus and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0019086|MONDO:0006182 +MONDO:0858683 esophageal synovial sarcoma NCIT:C95624 MONDO:equivalentTo Esophageal Synovial Sarcoma A synovial sarcoma that affects the esophageal wall. MONDO:0001204|MONDO:0010434 +MONDO:0858686 gastric adenoma, gastric-type NCIT:C95775 MONDO:equivalentTo Gastric Adenoma, Gastric-Type A neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation. It includes pyloric gland adenomas and foveolar-type adenomas. MONDO:0006221 +MONDO:0858689 gastric mixed adenoneuroendocrine carcinoma NCIT:C95886 MONDO:equivalentTo Gastric Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the stomach and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0006182|MONDO:0004950 +MONDO:0858691 gastric schwannoma NCIT:C95901 MONDO:equivalentTo Gastric Schwannoma A rare schwannoma that arises from the stomach. It follows a benign clinical course. MONDO:0004820|MONDO:0021449 +MONDO:0858693 ampulla of vater pancreatobiliary type adenocarcinoma NCIT:C95963 MONDO:equivalentTo Ampulla of Vater Pancreatobiliary Type Adenocarcinoma An invasive adenocarcinoma that arises from the ampulla of Vater. It is characterized by the presence of malignant cells that resemble the malignant cells of the pancreatic ductal or extrahepatic bile duct carcinomas. MONDO:0002670 +MONDO:0858694 ampulla of vater hepatoid adenocarcinoma NCIT:C95966 MONDO:equivalentTo Ampulla of Vater Hepatoid Adenocarcinoma A very rare adenocarcinoma that arises from the ampulla of Vater. It is usually of the intestinal type and is characterized by the presence of malignant polygonal cells with abundant eosinophilic cytoplasm resembling hepatocytes. MONDO:0006243|MONDO:0002670 +MONDO:0858695 ampulla of vater neuroendocrine neoplasm NCIT:C95980 MONDO:equivalentTo Ampulla of Vater Neuroendocrine Neoplasm A neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and periampullary region. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). MONDO:0000921|MONDO:0024503 +MONDO:0858696 ampulla of vater mixed adenoneuroendocrine carcinoma NCIT:C95986 MONDO:equivalentTo Ampulla of Vater Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the ampulla of Vater and the periampullary region. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0006182|MONDO:0017590 +MONDO:0858702 intestinal neuroendocrine tumor NCIT:C96062 MONDO:equivalentTo Intestinal Neuroendocrine Tumor A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the small or large intestine. MONDO:0000386|MONDO:0002883 +MONDO:0858703 small intestinal mixed adenoneuroendocrine carcinoma NCIT:C96066 MONDO:equivalentTo Small Intestinal Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the small intestine and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0005522|MONDO:0006182 +MONDO:0858705 colorectal neuroendocrine neoplasm NCIT:C96152 MONDO:equivalentTo Colorectal Neuroendocrine Neoplasm A neoplasm with neuroendocrine differentiation that arises from the colon or rectum. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). MONDO:0002883|MONDO:0005335 +MONDO:0858706 colorectal mixed adenoneuroendocrine carcinoma NCIT:C96158 MONDO:equivalentTo Colorectal Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the colon or rectum and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0006182|MONDO:0024331 +MONDO:0858707 digestive system neuroendocrine tumor g2 NCIT:C96166 MONDO:equivalentTo Digestive System Neuroendocrine Tumor G2 A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the digestive system. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. MONDO:0000386|MONDO:0006095 +MONDO:0858715 serrated lesions and polyps NCIT:C96414 MONDO:equivalentTo Serrated Lesions and Polyps Polyps that arises from the large intestine and the appendix. They are characterized by the presence of serrated glands and the absence of generalized dysplasia. MONDO:0006180 +MONDO:0858717 appendix enterochromaffin cell serotonin-producing neuroendocrine tumor NCIT:C96424 MONDO:equivalentTo Appendix Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor A well differentiated neuroendocrine tumor arising from the wall of the appendix. It is characterized by the presence of neoplastic cells forming round solid nests and occasionally glandular structures. The majority of the cases are asymptomatic, and they are found incidentally in appendectomy specimens. The majority of the tumors are located in the distal end of the appendix and they are enterochromaffin-cell carcinoid tumors producing serotonin. Most cases show morphologic evidence of appendiceal wall and lymphatic vessel invasion by tumor cells. Despite the morphologic evidence of invasion, appendiceal carcinoid tumors only infrequently produce lymph node or distant metastases. MONDO:0015066 +MONDO:0858721 rectal serrated lesions and polyps NCIT:C96465 MONDO:equivalentTo Rectal Serrated Lesions and Polyps Polyps that arises from the rectum. They are characterized by the presence of serrated glands and the absence of generalized dysplasia. MONDO:0000530|MONDO:0006164|MONDO:0021398 +MONDO:0858725 colon serrated adenocarcinoma NCIT:C96486 MONDO:equivalentTo Colon Serrated Adenocarcinoma A rare, invasive colon adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. MONDO:0006163|MONDO:0002271 +MONDO:0858726 rectal serrated adenocarcinoma NCIT:C96487 MONDO:equivalentTo Rectal Serrated Adenocarcinoma A rare, invasive rectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. MONDO:0006163|MONDO:0002169 +MONDO:0858729 colorectal sarcomatoid carcinoma NCIT:C96494 MONDO:equivalentTo Colorectal Sarcomatoid Carcinoma A biphasic colorectal carcinoma with a spindle cell, sarcomatoid component. MONDO:0024331|MONDO:0006406 +MONDO:0858735 colorectal schwannoma NCIT:C96512 MONDO:equivalentTo Colorectal Schwannoma A schwannoma that arises from the colon or rectum. It may cause gastrointestinal bleeding and luminal obstruction. MONDO:0021444|MONDO:0004820 +MONDO:0858736 colorectal ganglioneuroma NCIT:C96514 MONDO:equivalentTo Colorectal Ganglioneuroma A ganglioneuroma that arises from the colon or rectum. It usually presents as a small mucosal polyp. MONDO:0021444|MONDO:0005033 +MONDO:0858737 colorectal benign granular cell tumor NCIT:C96516 MONDO:equivalentTo Colorectal Benign Granular Cell Tumor A granular cell tumor that arises from the colon or rectum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021444|MONDO:0003250 +MONDO:0858738 anal canal undifferentiated carcinoma NCIT:C96529 MONDO:equivalentTo Anal Canal Undifferentiated Carcinoma A usually aggressive malignant epithelial neoplasm that arises from the anal canal. It is composed of malignant cells which do not display evidence of glandular or squamous differentiation. MONDO:0007108|MONDO:0005617 +MONDO:0858741 anal canal mixed adenoneuroendocrine carcinoma NCIT:C96553 MONDO:equivalentTo Anal Canal Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the anal canal. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0006182|MONDO:0007108 +MONDO:0858742 anal canal squamous papilloma NCIT:C96554 MONDO:equivalentTo Anal Canal Squamous Papilloma A benign epithelial neoplasm that arises from the anal canal. It is characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. MONDO:0021469|MONDO:0060766|MONDO:0001825 +MONDO:0858743 anal hidradenoma papilliferum NCIT:C96699 MONDO:equivalentTo Anal Hidradenoma Papilliferum A benign neoplasm arising from the perianal sweat glands. It presents as a cystic nodular lesion and is characterized by the presence of cystic and papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. MONDO:0021469|MONDO:0003446 +MONDO:0858745 hnf1alpha-inactivated hepatocellular adenoma NCIT:C96758 MONDO:equivalentTo HNF1alpha-Inactivated Hepatocellular Adenoma A hepatocellular adenoma caused by inactivating mutations of the HNF1A gene. It is characterized by the presence of lobulated contours, steatosis, and absence of inflammation or nuclear atypia. MONDO:0018902 +MONDO:0858746 beta-catenin-activated hepatocellular adenoma NCIT:C96759 MONDO:equivalentTo Beta-Catenin-Activated Hepatocellular Adenoma A hepatocellular adenoma caused by activating mutations of beta-catenin. It is characterized by the presence of nuclear atypia and absence of inflammation or steatosis. There is an increased risk of malignant transformation. MONDO:0018902 +MONDO:0858747 inflammatory hepatocellular adenoma NCIT:C96760 MONDO:equivalentTo Inflammatory Hepatocellular Adenoma A hepatocellular adenoma that occurs more often in women. It is characterized by increased levels of inflammation-associated proteins. It is usually associated with steatosis and obesity. MONDO:0018902 +MONDO:0858748 unclassified hepatocellular adenoma NCIT:C96761 MONDO:equivalentTo Unclassified Hepatocellular Adenoma A hepatocellular adenoma without distinguished morphologic characteristics or known molecular abnormalities. MONDO:0018902 +MONDO:0858750 liver neuroendocrine neoplasm NCIT:C96786 MONDO:equivalentTo Liver Neuroendocrine Neoplasm An extremely rare neoplasm with neuroendocrine differentiation that arises from the liver. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). MONDO:0024477|MONDO:0024503 +MONDO:0858751 lymphocyte-rich hepatocellular carcinoma NCIT:C96788 MONDO:equivalentTo Lymphocyte-Rich Hepatocellular Carcinoma A rare type of hepatocellular carcinoma characterized by the presence of pleomorphic malignant cells that are intermixed with lymphocytes. MONDO:0007256 +MONDO:0858752 well differentiated hepatocellular carcinoma NCIT:C96789 MONDO:equivalentTo Well Differentiated Hepatocellular Carcinoma A hepatocellular carcinoma characterized by the presence of malignant cells with mild atypia and an increased nuclear/cytoplasmic ratio forming thin trabecular patterns. It is usually associated with small tumors and an early stage. MONDO:0007256 +MONDO:0858753 moderately differentiated hepatocellular carcinoma NCIT:C96790 MONDO:equivalentTo Moderately Differentiated Hepatocellular Carcinoma A hepatocellular carcinoma characterized by the presence of malignant cells with abundant eosinophilic cytoplasm forming trabecular and pseudoglandular patterns. It is usually associated with tumors that are larger than 3 cm in diameter. MONDO:0007256 +MONDO:0858754 poorly differentiated hepatocellular carcinoma NCIT:C96791 MONDO:equivalentTo Poorly Differentiated Hepatocellular Carcinoma A hepatocellular carcinoma characterized by the presence of malignant pleomorphic cells forming solid patterns. MONDO:0007256 +MONDO:0858755 liver undifferentiated carcinoma NCIT:C96792 MONDO:equivalentTo Liver Undifferentiated Carcinoma A rare carcinoma that arises from the liver. The diagnosis is made by immunohistochemical studies. Morphologic studies alone cannot establish the diagnosis of carcinoma or further subclassify the malignant tumor. MONDO:0018531|MONDO:0005617 +MONDO:0858756 small duct intrahepatic cholangiocarcinoma NCIT:C96805 MONDO:equivalentTo Small Duct Intrahepatic Cholangiocarcinoma An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts. MONDO:0003210 +MONDO:0858757 bile duct intraductal papillary neoplasm with an associated invasive carcinoma NCIT:C96810 MONDO:equivalentTo Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. MONDO:0003455|MONDO:0003193 +MONDO:0858758 extrahepatic bile duct tubulopapillary adenoma NCIT:C96811 MONDO:equivalentTo Extrahepatic Bile Duct Tubulopapillary Adenoma An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of tubular and papillary growth patterns. MONDO:0003445|MONDO:0024661 +MONDO:0858760 liver synovial sarcoma NCIT:C96845 MONDO:equivalentTo Liver Synovial Sarcoma A synovial sarcoma that affects the liver. MONDO:0002397|MONDO:0010434 +MONDO:0858761 liver carcinosarcoma NCIT:C96848 MONDO:equivalentTo Liver Carcinosarcoma An aggressive carcinoma with a sarcomatous component that arises from the liver. The sarcomatous component is clonally related to the more differentiated, carcinomatous component. The prognosis is usually poor. MONDO:0002928|MONDO:0018531 +MONDO:0858765 gallbladder mucinous cystic neoplasm NCIT:C96881 MONDO:equivalentTo Gallbladder Mucinous Cystic Neoplasm An epithelial, usually multiloculated neoplasm arising from the gallbladder. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. MONDO:0021253 +MONDO:0858766 gallbladder carcinosarcoma NCIT:C96888 MONDO:equivalentTo Gallbladder Carcinosarcoma A carcinoma that arises from the gallbladder and it is characterized by the presence of a sarcomatous component. The sarcomatous component may contain osteosarcoma, chondrosarcoma, or rhabdomyosarcoma elements. MONDO:0003220|MONDO:0002928 +MONDO:0858767 gallbladder hepatoid adenocarcinoma NCIT:C96890 MONDO:equivalentTo Gallbladder Hepatoid Adenocarcinoma A rare variant of gallbladder adenocarcinoma. It is characterized by the presence of a malignant glandular epithelial infiltrate that resembles hepatocellular carcinoma. MONDO:0006215|MONDO:0006243 +MONDO:0858768 gallbladder cribriform carcinoma NCIT:C96891 MONDO:equivalentTo Gallbladder Cribriform Carcinoma A rare variant of gallbladder adenocarcinoma. It is characterized by the presence of a malignant glandular epithelial infiltrate with a cribriform growth pattern. MONDO:0006215|MONDO:0006176 +MONDO:0858769 gallbladder adenocarcinoma, biliary type NCIT:C96915 MONDO:equivalentTo Gallbladder Adenocarcinoma, Biliary Type A well or moderately differentiated adenocarcinoma that arises from the gallbladder. It is the most common type of gallbladder carcinoma and is characterized by the presence of malignant tubular glands. Intestinal differentiation may be present. MONDO:0006215|MONDO:0005606 +MONDO:0858770 gallbladder adenocarcinoma, gastric foveolar type NCIT:C96916 MONDO:equivalentTo Gallbladder Adenocarcinoma, Gastric Foveolar Type An unusual, well differentiated adenocarcinoma that arises from the gallbladder. It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei. MONDO:0006215 +MONDO:0858774 gallbladder mixed adenoneuroendocrine carcinoma NCIT:C96927 MONDO:equivalentTo Gallbladder Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the gallbladder and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0003220|MONDO:0006182 +MONDO:0858775 gallbladder tubular carcinoid NCIT:C96930 MONDO:equivalentTo Gallbladder Tubular Carcinoid A neuroendocrine tumor that arises from the gallbladder. It does not show the morphologic characteristics of typical carcinoid tumors (neoplastic cells forming solid nests). In contrast, the tumor cells form small discrete tubules. MONDO:0015073 +MONDO:0858776 extrahepatic bile duct adenocarcinoma, biliary type NCIT:C96936 MONDO:equivalentTo Extrahepatic Bile Duct Adenocarcinoma, Biliary Type A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant tubular glands. MONDO:0002665|MONDO:0005606 +MONDO:0858777 extrahepatic bile duct adenocarcinoma, gastric foveolar type NCIT:C96937 MONDO:equivalentTo Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei. MONDO:0002665 +MONDO:0858778 extrahepatic bile duct adenocarcinoma, intestinal type NCIT:C96938 MONDO:equivalentTo Extrahepatic Bile Duct Adenocarcinoma, Intestinal Type An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells. MONDO:0002665 +MONDO:0858779 extrahepatic bile duct carcinosarcoma NCIT:C96939 MONDO:equivalentTo Extrahepatic Bile Duct Carcinosarcoma A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component. MONDO:0003090|MONDO:0002928 +MONDO:0858780 extrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma NCIT:C96946 MONDO:equivalentTo Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component. MONDO:0002665|MONDO:0004462|MONDO:0002868 +MONDO:0858781 intrahepatic bile duct mucinous cystic neoplasm with an associated invasive carcinoma NCIT:C96947 MONDO:equivalentTo Intrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma A mucinous cystic neoplasm that arises from the intrahepatic bile ducts and it is associated with an invasive carcinomatous component. MONDO:0002868|MONDO:0018531|MONDO:0003979 +MONDO:0858783 extrahepatic bile duct lymphoma NCIT:C96952 MONDO:equivalentTo Extrahepatic Bile Duct Lymphoma A lymphoma that arises from the extrahepatic bile ducts, with the bulk of the disease located at this site. MONDO:0021321|MONDO:0004699 +MONDO:0858785 extrahepatic bile duct neuroendocrine neoplasm NCIT:C96954 MONDO:equivalentTo Extrahepatic Bile Duct Neuroendocrine Neoplasm A neoplasm with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). MONDO:0021385|MONDO:0024503 +MONDO:0858786 extrahepatic bile duct mixed adenoneuroendocrine carcinoma NCIT:C96959 MONDO:equivalentTo Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made. MONDO:0006182|MONDO:0003090 +MONDO:0858788 invasive breast lobular carcinoma, alveolar variant NCIT:C97049 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Alveolar Variant A grade I invasive lobular carcinoma of the breast, characterized by the presence of round groups of neoplastic cells. MONDO:0005051 +MONDO:0858789 invasive breast lobular carcinoma, pleomorphic variant NCIT:C97051 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Pleomorphic Variant A grade II invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells with large and atypical nuclei. MONDO:0005051 +MONDO:0858790 invasive breast lobular carcinoma, solid variant NCIT:C97052 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Solid Variant A grade I invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells that form trabeculae and groups infiltrating collagen bundles. MONDO:0005051 +MONDO:0858791 invasive breast lobular carcinoma, tubulolobular variant NCIT:C97053 MONDO:equivalentTo Invasive Breast Lobular Carcinoma, Tubulolobular Variant An invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells forming small tubular structures. MONDO:0005051 +MONDO:0858792 mixed congenital mesoblastic nephroma NCIT:C97058 MONDO:equivalentTo Mixed Congenital Mesoblastic Nephroma A congenital mesoblastic nephroma characterized by the presence of classic and cellular areas. MONDO:0017043|MONDO:0005853 +MONDO:0858851 contralateral breast carcinoma NCIT:C99390 MONDO:equivalentTo Contralateral Breast Carcinoma Breast carcinoma that develops in the opposite breast of a patient with an already diagnosed primary breast carcinoma. MONDO:0003982 MONDO:0859471 neoplastic medium-sized lymphocyte NCIT:C37004 MONDO:equivalentTo Neoplastic Medium-Sized Lymphocyte MONDO:0859472 neoplastic b-lymphocyte NCIT:C38640 MONDO:equivalentTo Neoplastic B-Lymphocyte -MONDO:0859554 medaka melanoma NCIT:C134572 MONDO:equivalentTo Medaka Melanoma MONDO:0700196 -MONDO:0859555 xiphophorus melanoma NCIT:C134575 MONDO:equivalentTo Xiphophorus Melanoma MONDO:0700196 -MONDO:0859556 non-human or experimental organism neoplasm NCIT:C134576 MONDO:equivalentTo Non-Human or Experimental Organism Neoplasm -MONDO:0859560 tubulostromal adenoma NCIT:C79953 MONDO:equivalentTo Tubulostromal Adenoma -MONDO:0859561 tubulostromal adenocarcinoma NCIT:C80356 MONDO:equivalentTo Tubulostromal Adenocarcinoma -MONDO:0859730 vaginal non-keratinizing squamous cell carcinoma NCIT:C40244 MONDO:equivalentTo Vaginal Non-Keratinizing Squamous Cell Carcinoma MONDO:0006490 -MONDO:0860042 lymphoproliferative disease associated with primary immune disorder NCIT:C150673 MONDO:equivalentTo Lymphoproliferative Disease Associated with Primary Immune Disorder -MONDO:0860043 genitourinary system disorder NCIT:C156660 MONDO:equivalentTo Genitourinary System Disorder -MONDO:0860044 recurrent hiv-related lymphoproliferative disorder NCIT:C157685 MONDO:equivalentTo Recurrent HIV-Related Lymphoproliferative Disorder -MONDO:0860045 refractory hiv-related lymphoproliferative disorder NCIT:C157687 MONDO:equivalentTo Refractory HIV-Related Lymphoproliferative Disorder -MONDO:0860046 hiv-related lymphoproliferative disorder NCIT:C157709 MONDO:equivalentTo HIV-Related Lymphoproliferative Disorder -MONDO:0860047 ebv-related lymphoproliferative disease with primary immunodeficiency NCIT:C160150 MONDO:equivalentTo EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency -MONDO:0860048 recurrent ebv-related lymphoproliferative disease with primary immunodeficiency NCIT:C160151 MONDO:equivalentTo Recurrent EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency -MONDO:0860049 refractory ebv-related lymphoproliferative disease with primary immunodeficiency NCIT:C160152 MONDO:equivalentTo Refractory EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency -MONDO:0860050 tonsillar disorder NCIT:C173797 MONDO:equivalentTo Tonsillar Disorder -MONDO:0860051 soft tissue disorder NCIT:C27042 MONDO:equivalentTo Soft Tissue Disorder -MONDO:0860052 connective and soft tissue disorder NCIT:C27574 MONDO:equivalentTo Connective and Soft Tissue Disorder -MONDO:0860053 neck disorder NCIT:C27648 MONDO:equivalentTo Neck Disorder -MONDO:0860054 peritoneal and retroperitoneal disorder NCIT:C27664 MONDO:equivalentTo Peritoneal and Retroperitoneal Disorder -MONDO:0860055 female reproductive system precancerous condition NCIT:C27788 MONDO:equivalentTo Female Reproductive System Precancerous Condition -MONDO:0860056 tobacco use disorder NCIT:C35074 MONDO:equivalentTo Tobacco Use Disorder -MONDO:0860057 sternal disorder NCIT:C35744 MONDO:equivalentTo Sternal Disorder -MONDO:0860058 chest wall disorder NCIT:C35745 MONDO:equivalentTo Chest Wall Disorder -MONDO:0860059 axillary disorder NCIT:C35746 MONDO:equivalentTo Axillary Disorder -MONDO:0860060 hematopoietic and lymphatic system disorder NCIT:C35814 MONDO:equivalentTo Hematopoietic and Lymphatic System Disorder +MONDO:0859554 medaka melanoma NCIT:C134572 MONDO:equivalentTo Medaka Melanoma Melanoma that occurs in Oryzias latipes. MONDO:0700196 +MONDO:0859555 xiphophorus melanoma NCIT:C134575 MONDO:equivalentTo Xiphophorus Melanoma Melanoma that occurs in Xiphophorus. MONDO:0700196 +MONDO:0859556 non-human or experimental organism neoplasm NCIT:C134576 MONDO:equivalentTo Non-Human or Experimental Organism Neoplasm A neoplastic condition occurring in a non-human organism; this includes neoplasms occurring in organisms used in research settings. +MONDO:0859560 tubulostromal adenoma NCIT:C79953 MONDO:equivalentTo Tubulostromal Adenoma A benign ovarian epithelial tumor. It has been described in mice and rats and is rare in other animal species. Morphologically it is characterized by the presence of tubular structures and interstitial stroma. +MONDO:0859561 tubulostromal adenocarcinoma NCIT:C80356 MONDO:equivalentTo Tubulostromal Adenocarcinoma A malignant ovarian epithelial tumor. It has been described in mice and rats and is characterized by marked pleomorphism, atypia, and an infiltrative growth pattern. +MONDO:0859730 vaginal non-keratinizing squamous cell carcinoma NCIT:C40244 MONDO:equivalentTo Vaginal Non-Keratinizing Squamous Cell Carcinoma A squamous cell carcinoma that arises from the vagina and is characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. MONDO:0006490 +MONDO:0860042 lymphoproliferative disease associated with primary immune disorder NCIT:C150673 MONDO:equivalentTo Lymphoproliferative Disease Associated with Primary Immune Disorder A lymphoid proliferation that arises in the setting of immune deficiency due to a primary immunodeficiency or immunoregulatory disorder. The primary immune disorders most frequently associated with lymphoproliferative disorders are ataxia-telangiectasia, Wiskott-Aldrich syndrome, common variable immunodeficiency, severe combined immunodeficiency, X-linked lymphoproliferative disease, Nijmegen breakage syndrome, hyper-IgM syndrome, and autoimmune lymphoproliferative syndrome. (WHO 2017) +MONDO:0860043 genitourinary system disorder NCIT:C156660 MONDO:equivalentTo Genitourinary System Disorder A non-neoplastic or neoplastic disorder that affects the genitourinary system. +MONDO:0860044 recurrent hiv-related lymphoproliferative disorder NCIT:C157685 MONDO:equivalentTo Recurrent HIV-Related Lymphoproliferative Disorder The reemergence of HIV-associated lymphoproliferative disorder after a period of remission. +MONDO:0860045 refractory hiv-related lymphoproliferative disorder NCIT:C157687 MONDO:equivalentTo Refractory HIV-Related Lymphoproliferative Disorder HIV-associated lymphoproliferative disorder that is resistant to treatment. +MONDO:0860046 hiv-related lymphoproliferative disorder NCIT:C157709 MONDO:equivalentTo HIV-Related Lymphoproliferative Disorder A lymphoproliferative disorder that develops in an individual with HIV infection. +MONDO:0860047 ebv-related lymphoproliferative disease with primary immunodeficiency NCIT:C160150 MONDO:equivalentTo EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency An EBV-related lymphoid proliferation that arises in the setting of immune deficiency due to a primary immunodeficiency or immunoregulatory disorder. +MONDO:0860048 recurrent ebv-related lymphoproliferative disease with primary immunodeficiency NCIT:C160151 MONDO:equivalentTo Recurrent EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency The reemergence of EBV-associated lymphoproliferative disease with primary immunodeficiency after a period of remission. +MONDO:0860049 refractory ebv-related lymphoproliferative disease with primary immunodeficiency NCIT:C160152 MONDO:equivalentTo Refractory EBV-Related Lymphoproliferative Disease with Primary Immunodeficiency EBV-associated lymphoproliferative disease with primary immunodeficiency that is resistant to treatment. +MONDO:0860050 tonsillar disorder NCIT:C173797 MONDO:equivalentTo Tonsillar Disorder A non-neoplastic or neoplastic disorder that affects the tonsils. +MONDO:0860051 soft tissue disorder NCIT:C27042 MONDO:equivalentTo Soft Tissue Disorder A non-neoplastic or neoplastic disorder that affects the soft tissue. +MONDO:0860052 connective and soft tissue disorder NCIT:C27574 MONDO:equivalentTo Connective and Soft Tissue Disorder A non-neoplastic or neoplastic disorder that affects the connective and soft tissue. +MONDO:0860053 neck disorder NCIT:C27648 MONDO:equivalentTo Neck Disorder A non-neoplastic or neoplastic disorder that affects the anatomic structures of the neck region. This category includes disorders of the pharynx, larynx, thyroid gland, and parathyroid gland. +MONDO:0860054 peritoneal and retroperitoneal disorder NCIT:C27664 MONDO:equivalentTo Peritoneal and Retroperitoneal Disorder A non-neoplastic or neoplastic disorder that affects the peritoneum and/or retroperitoneum. +MONDO:0860055 female reproductive system precancerous condition NCIT:C27788 MONDO:equivalentTo Female Reproductive System Precancerous Condition A precancerous lesion that arises from the female reproductive system. Representative examples include atypical endometrial hyperplasia, endometrial intraepithelial neoplasia, and cervical intraepithelial neoplasia. +MONDO:0860056 tobacco use disorder NCIT:C35074 MONDO:equivalentTo Tobacco Use Disorder Any disease or disorder that is caused by the use of tobacco. +MONDO:0860057 sternal disorder NCIT:C35744 MONDO:equivalentTo Sternal Disorder A non-neoplastic or neoplastic disorder that affects the sternum. +MONDO:0860058 chest wall disorder NCIT:C35745 MONDO:equivalentTo Chest Wall Disorder A non-neoplastic or neoplastic disorder that affects the structures of the chest wall. Representative examples include infection, chest wall lipoma, and chest wall lymphoma. +MONDO:0860059 axillary disorder NCIT:C35746 MONDO:equivalentTo Axillary Disorder A non-neoplastic or neoplastic disorder that affects the structures of the axilla. Representative examples include axillary lymphadenitis, axillary lipoma, and metastatic carcinoma to the axillary lymph nodes. +MONDO:0860060 hematopoietic and lymphatic system disorder NCIT:C35814 MONDO:equivalentTo Hematopoietic and Lymphatic System Disorder A non-neoplastic or neoplastic disorder that affects the hematopoietic and lymphatic system. MONDO:0860062 anal precancerous condition NCIT:C7407 MONDO:equivalentTo Anal Precancerous Condition MONDO:0860063 esophageal precancerous condition NCIT:C7423 MONDO:equivalentTo Esophageal Precancerous Condition MONDO:0860064 gastric precancerous condition NCIT:C7424 MONDO:equivalentTo Gastric Precancerous Condition -MONDO:0860065 pulmonary precancerous condition NCIT:C7435 MONDO:equivalentTo Pulmonary Precancerous Condition +MONDO:0860065 pulmonary precancerous condition NCIT:C7435 MONDO:equivalentTo Pulmonary Precancerous Condition A premalignant pathologic process that affects the lungs. This category includes bronchial intraepithelial neoplasia and atypical adenomatous hyperplasia. MONDO:0860066 hepatobiliary precancerous condition NCIT:C7655 MONDO:equivalentTo Hepatobiliary Precancerous Condition MONDO:0860067 intestinal precancerous condition NCIT:C7657 MONDO:equivalentTo Intestinal Precancerous Condition MONDO:0860068 digestive system precancerous condition NCIT:C7659 MONDO:equivalentTo Digestive System Precancerous Condition MONDO:0860069 cutaneous precancerous condition NCIT:C8957 MONDO:equivalentTo Cutaneous Precancerous Condition -MONDO:0860070 neonatal disorder NCIT:C98996 MONDO:equivalentTo Neonatal Disorder -MONDO:0950158 core binding factor acute myeloid leukemia NCIT:C122688 MONDO:equivalentTo Core Binding Factor Acute Myeloid Leukemia MONDO:0020078 -MONDO:0955884 adult acute eosinophilic leukemia NCIT:C7963 MONDO:equivalentTo Adult Acute Eosinophilic Leukemia MONDO:0043881 -MONDO:0956044 acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13.3;q13.1); rbm15-mkl1 NCIT:C82427 MONDO:equivalentTo Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 MONDO:0020078 -MONDO:0956704 childhood acute eosinophilic leukemia NCIT:C9165 MONDO:equivalentTo Childhood Acute Eosinophilic Leukemia MONDO:0043881 -MONDO:0956756 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); cbfb-myh11 NCIT:C9287 MONDO:equivalentTo Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 MONDO:0020078 -MONDO:0956757 acute myeloid leukemia with t(8;21)(q22; q22.1); runx1-runx1t1 NCIT:C9288 MONDO:equivalentTo Acute Myeloid Leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 MONDO:0020078 -MONDO:0957380 cic-rearranged sarcoma NCIT:C120224 MONDO:equivalentTo CIC-Rearranged Sarcoma MONDO:0858921 -MONDO:0957623 smoldering systemic mastocytosis NCIT:C115460 MONDO:equivalentTo Smoldering Systemic Mastocytosis MONDO:0016586 -MONDO:0957624 indolent clonal t-cell lymphoproliferative disorder of the gastrointestinal tract NCIT:C139021 MONDO:equivalentTo Indolent Clonal T-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract MONDO:0005169 -MONDO:0957625 penile adenosquamous carcinoma NCIT:C159248 MONDO:equivalentTo Penile Adenosquamous Carcinoma MONDO:0006360|MONDO:0006074 -MONDO:0957626 seminal vesicle soft tissue neoplasm NCIT:C161637 MONDO:equivalentTo Seminal Vesicle Soft Tissue Neoplasm MONDO:0002790|MONDO:0006424 -MONDO:0957627 hepatocellular malignant neoplasm, not otherwise specified NCIT:C161838 MONDO:equivalentTo Hepatocellular Malignant Neoplasm, Not Otherwise Specified MONDO:0018666 -MONDO:0957628 epididymal melanotic neuroectodermal tumor NCIT:C162488 MONDO:equivalentTo Epididymal Melanotic Neuroectodermal Tumor MONDO:0002072|MONDO:0021473 -MONDO:0957629 systemic mastocytosis with an associated germ cell tumor NCIT:C186735 MONDO:equivalentTo Systemic Mastocytosis with an Associated Germ Cell Tumor MONDO:0016586 -MONDO:0957630 estrogen receptor-positive breast carcinoma NCIT:C188366 MONDO:equivalentTo Estrogen Receptor-Positive Breast Carcinoma -MONDO:0957631 childhood myelodysplastic syndrome with excess blasts NCIT:C188449 MONDO:equivalentTo Childhood Myelodysplastic Syndrome with Excess Blasts MONDO:0019454|MONDO:0044873 -MONDO:0957632 childhood acute myeloid leukemia with t(9;11)(p21.3;q23.3); mllt3-kmt2a NCIT:C188451 MONDO:equivalentTo Childhood Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A MONDO:0004996|MONDO:0020317 -MONDO:0957633 lung small cell carcinoma neuroendocrine subtype NCIT:C188753 MONDO:equivalentTo Lung Small Cell Carcinoma Neuroendocrine Subtype MONDO:0008433 -MONDO:0957634 lung small cell carcinoma molecular subtypes NCIT:C188756 MONDO:equivalentTo Lung Small Cell Carcinoma Molecular Subtypes MONDO:0008433 -MONDO:0957635 adult ganglioneuroma NCIT:C188947 MONDO:equivalentTo Adult Ganglioneuroma MONDO:0005033 -MONDO:0957636 childhood nervous system neoplasm NCIT:C188950 MONDO:equivalentTo Childhood Nervous System Neoplasm MONDO:0021079|MONDO:0021248 -MONDO:0957637 choroidal ganglioneuroma NCIT:C188956 MONDO:equivalentTo Choroidal Ganglioneuroma MONDO:0021487|MONDO:0005033 -MONDO:0957638 childhood connective and soft tissue neoplasm NCIT:C188963 MONDO:equivalentTo Childhood Connective and Soft Tissue Neoplasm MONDO:0021079|MONDO:0044334 -MONDO:0957639 childhood low grade fibromyxoid sarcoma NCIT:C188970 MONDO:equivalentTo Childhood Low Grade Fibromyxoid Sarcoma MONDO:0002678|MONDO:0006272 -MONDO:0957640 extragonadal teratoma NCIT:C189045 MONDO:equivalentTo Extragonadal Teratoma MONDO:0018201|MONDO:0002601 -MONDO:0957641 testicular teratoma, postpubertal-type NCIT:C189057 MONDO:equivalentTo Testicular Teratoma, Postpubertal-Type MONDO:0003510|MONDO:0018193 -MONDO:0957642 kidney carcinoma molecular subtypes NCIT:C189241 MONDO:equivalentTo Kidney Carcinoma Molecular Subtypes MONDO:0005206 -MONDO:0957644 ovarian sertoli-leydig cell tumor molecular subtypes NCIT:C189319 MONDO:equivalentTo Ovarian Sertoli-Leydig Cell Tumor Molecular Subtypes MONDO:0036595 -MONDO:0957645 mullerian papilloma NCIT:C189336 MONDO:equivalentTo Mullerian Papilloma MONDO:0021078 -MONDO:0957646 childhood breast neoplasm NCIT:C189338 MONDO:equivalentTo Childhood Breast Neoplasm MONDO:0021079|MONDO:0021100 -MONDO:0957647 childhood digestive system neoplasm NCIT:C189869 MONDO:equivalentTo Childhood Digestive System Neoplasm MONDO:0021079|MONDO:0021223 -MONDO:0957648 epithelial hepatoblastoma NCIT:C189923 MONDO:equivalentTo Epithelial Hepatoblastoma MONDO:0018666 -MONDO:0957649 non-teratoid hepatoblastoma NCIT:C189926 MONDO:equivalentTo Non-Teratoid Hepatoblastoma MONDO:0003650 -MONDO:0957650 hepatoblastoma by pretext stage NCIT:C189927 MONDO:equivalentTo Hepatoblastoma by PRETEXT Stage MONDO:0018666 -MONDO:0957651 hepatoblastoma by postsurgical stage NCIT:C189929 MONDO:equivalentTo Hepatoblastoma by Postsurgical Stage MONDO:0018666 -MONDO:0957652 childhood fibrolamellar carcinoma NCIT:C189932 MONDO:equivalentTo Childhood Fibrolamellar Carcinoma MONDO:0018055|MONDO:0006210 -MONDO:0957653 childhood endocrine neoplasm NCIT:C190056 MONDO:equivalentTo Childhood Endocrine Neoplasm MONDO:0021079|MONDO:0002082 -MONDO:0957654 childhood thoracic neoplasm NCIT:C190090 MONDO:equivalentTo Childhood Thoracic Neoplasm MONDO:0021079|MONDO:0021350 -MONDO:0957655 childhood head and neck neoplasm NCIT:C190119 MONDO:equivalentTo Childhood Head and Neck Neoplasm MONDO:0021079|MONDO:0005586 -MONDO:0957656 childhood skin neoplasm NCIT:C190123 MONDO:equivalentTo Childhood Skin Neoplasm MONDO:0021079|MONDO:0002531 -MONDO:0957657 childhood carcinoma NCIT:C190275 MONDO:equivalentTo Childhood Carcinoma MONDO:0004993|MONDO:0036491 -MONDO:0957658 refractory t/nk-cell lymphoproliferative disorder NCIT:C190397 MONDO:equivalentTo Refractory T/NK-Cell Lymphoproliferative Disorder -MONDO:0957659 recurrent t/nk-cell lymphoproliferative disorder NCIT:C190398 MONDO:equivalentTo Recurrent T/NK-Cell Lymphoproliferative Disorder -MONDO:0957660 ebv-related t/nk-cell lymphoproliferative disorder NCIT:C190402 MONDO:equivalentTo EBV-Related T/NK-Cell Lymphoproliferative Disorder -MONDO:0957661 childhood benign neoplasm NCIT:C190573 MONDO:equivalentTo Childhood Benign Neoplasm MONDO:0021079|MONDO:0005165 -MONDO:0957662 benign liver neoplasm NCIT:C190592 MONDO:equivalentTo Benign Liver Neoplasm MONDO:0024477|MONDO:0000385 -MONDO:0957663 high grade endometrial carcinoma NCIT:C190680 MONDO:equivalentTo High Grade Endometrial Carcinoma MONDO:0002447 -MONDO:0957664 iridociliary melanoma NCIT:C190746 MONDO:equivalentTo Iridociliary Melanoma MONDO:0006486 -MONDO:0957665 b acute lymphoblastic leukemia associated with down syndrome NCIT:C190847 MONDO:equivalentTo B Acute Lymphoblastic Leukemia Associated with Down Syndrome MONDO:0020511 -MONDO:0957666 androgen receptor-positive breast carcinoma NCIT:C190851 MONDO:equivalentTo Androgen Receptor-Positive Breast Carcinoma -MONDO:0957667 b lymphoblastic leukemia/lymphoma with etv6-runx1-like features NCIT:C190956 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1-Like Features MONDO:0035605 -MONDO:0957668 renal cell carcinoma, not otherwise specified NCIT:C191370 MONDO:equivalentTo Renal Cell Carcinoma, Not Otherwise Specified MONDO:0005549 -MONDO:0957669 kidney classic angiomyolipoma NCIT:C191391 MONDO:equivalentTo Kidney Classic Angiomyolipoma MONDO:0002513|MONDO:0004555 -MONDO:0957670 secondary plasma cell leukemia NCIT:C191432 MONDO:equivalentTo Secondary Plasma Cell Leukemia MONDO:0024881|MONDO:0018689 -MONDO:0957671 papillary urothelial neoplasm of low malignant potential NCIT:C191672 MONDO:equivalentTo Papillary Urothelial Neoplasm of Low Malignant Potential MONDO:0003755|MONDO:0003443 -MONDO:0957672 invasive lymphoepithelioma-like urothelial carcinoma NCIT:C191678 MONDO:equivalentTo Invasive Lymphoepithelioma-Like Urothelial Carcinoma MONDO:0003572|MONDO:0040678 -MONDO:0957673 invasive giant cell urothelial carcinoma NCIT:C191679 MONDO:equivalentTo Invasive Giant Cell Urothelial Carcinoma MONDO:0040678 -MONDO:0957674 invasive urothelial carcinoma with glandular differentiation NCIT:C191680 MONDO:equivalentTo Invasive Urothelial Carcinoma with Glandular Differentiation MONDO:0040678 -MONDO:0957675 invasive urothelial carcinoma with squamous differentiation NCIT:C191681 MONDO:equivalentTo Invasive Urothelial Carcinoma with Squamous Differentiation MONDO:0040678 -MONDO:0957676 invasive urothelial carcinoma with trophoblastic differentiation NCIT:C191682 MONDO:equivalentTo Invasive Urothelial Carcinoma with Trophoblastic Differentiation MONDO:0040678 -MONDO:0957677 invasive clear cell (glycogen-rich) urothelial carcinoma NCIT:C191683 MONDO:equivalentTo Invasive Clear Cell (Glycogen-Rich) Urothelial Carcinoma MONDO:0040678 -MONDO:0957678 invasive lipid-rich urothelial carcinoma NCIT:C191684 MONDO:equivalentTo Invasive Lipid-Rich Urothelial Carcinoma MONDO:0040678 -MONDO:0957679 invasive microcystic urothelial carcinoma NCIT:C191685 MONDO:equivalentTo Invasive Microcystic Urothelial Carcinoma MONDO:0040678 -MONDO:0957680 invasive nested urothelial carcinoma NCIT:C191687 MONDO:equivalentTo Invasive Nested Urothelial Carcinoma MONDO:0040678 -MONDO:0957681 invasive plasmacytoid urothelial carcinoma NCIT:C191688 MONDO:equivalentTo Invasive Plasmacytoid Urothelial Carcinoma MONDO:0040678 -MONDO:0957682 invasive large nested urothelial carcinoma NCIT:C191725 MONDO:equivalentTo Invasive Large Nested Urothelial Carcinoma MONDO:0040678 -MONDO:0957683 invasive tubular urothelial carcinoma NCIT:C191728 MONDO:equivalentTo Invasive Tubular Urothelial Carcinoma MONDO:0040678 -MONDO:0957684 invasive poorly differentiated urothelial carcinoma NCIT:C191730 MONDO:equivalentTo Invasive Poorly Differentiated Urothelial Carcinoma MONDO:0040678 -MONDO:0957685 invasive conventional urothelial carcinoma NCIT:C191734 MONDO:equivalentTo Invasive Conventional Urothelial Carcinoma MONDO:0040678 -MONDO:0957686 prostatic intraepithelial neoplasia-like adenocarcinoma NCIT:C191961 MONDO:equivalentTo Prostatic Intraepithelial Neoplasia-Like Adenocarcinoma MONDO:0002493 -MONDO:0957687 extrapulmonary neuroendocrine carcinoma NCIT:C191977 MONDO:equivalentTo Extrapulmonary Neuroendocrine Carcinoma MONDO:0002120 -MONDO:0957688 intratubular embryonal carcinoma NCIT:C192096 MONDO:equivalentTo Intratubular Embryonal Carcinoma MONDO:0004520|MONDO:0006446 -MONDO:0957689 testicular yolk sac tumor, postpubertal-type NCIT:C192099 MONDO:equivalentTo Testicular Yolk Sac Tumor, Postpubertal-Type MONDO:0003402 -MONDO:0957690 cystic trophoblastic tumor NCIT:C192105 MONDO:equivalentTo Cystic Trophoblastic Tumor MONDO:0021077|MONDO:0002872 -MONDO:0957691 testicular teratoma, prepubertal-type NCIT:C192107 MONDO:equivalentTo Testicular Teratoma, Prepubertal-Type MONDO:0018193 -MONDO:0957692 gonadal myoid stromal tumor NCIT:C192116 MONDO:equivalentTo Gonadal Myoid Stromal Tumor MONDO:0021447 -MONDO:0957693 penile squamous cell carcinoma, not otherwise specified NCIT:C192222 MONDO:equivalentTo Penile Squamous Cell Carcinoma, Not Otherwise Specified MONDO:0018352 -MONDO:0957694 penile mucoepidermoid carcinoma NCIT:C192223 MONDO:equivalentTo Penile Mucoepidermoid Carcinoma MONDO:0006360|MONDO:0003036 -MONDO:0957695 urinary tract neoplasm NCIT:C192666 MONDO:equivalentTo Urinary Tract Neoplasm MONDO:0021066 -MONDO:0957696 benign cranial nerve neoplasm NCIT:C193416 MONDO:equivalentTo Benign Cranial Nerve Neoplasm MONDO:0000648|MONDO:0002633 -MONDO:0957697 benign spinal meningioma NCIT:C193417 MONDO:equivalentTo Benign Spinal Meningioma MONDO:0001279|MONDO:0003054 -MONDO:0957698 rectal gastrointestinal stromal tumor NCIT:C193420 MONDO:equivalentTo Rectal Gastrointestinal Stromal Tumor MONDO:0002165|MONDO:0006159 -MONDO:0957699 malignant ileal neoplasm NCIT:C193425 MONDO:equivalentTo Malignant Ileal Neoplasm MONDO:0006801|MONDO:0000956 -MONDO:0957700 refractory malignant phyllodes tumor NCIT:C193453 MONDO:equivalentTo Refractory Malignant Phyllodes Tumor MONDO:0037003|MONDO:0036501 -MONDO:0957701 childhood cancer stage by toronto guidelines v2 NCIT:C198027 MONDO:equivalentTo Childhood Cancer Stage by Toronto Guidelines v2 MONDO:0006517 -MONDO:0957702 myeloproliferative neoplasm, bcr-abl1 negative NCIT:C198555 MONDO:equivalentTo Myeloproliferative Neoplasm, BCR-ABL1 Negative MONDO:0020076 -MONDO:0957703 myeloid/lymphoid neoplasms with flt3 rearrangement NCIT:C198559 MONDO:equivalentTo Myeloid/Lymphoid Neoplasms with FLT3 Rearrangement MONDO:0015688 -MONDO:0957704 myeloid/lymphoid neoplasms with etv6-abl1 NCIT:C198565 MONDO:equivalentTo Myeloid/Lymphoid Neoplasms with ETV6-ABL1 MONDO:0015688 -MONDO:0957705 bone marrow mastocytosis NCIT:C198573 MONDO:equivalentTo Bone Marrow Mastocytosis MONDO:0020331 -MONDO:0957706 clonal monocytosis of undetermined significance NCIT:C198580 MONDO:equivalentTo Clonal Monocytosis of Undetermined Significance MONDO:0006311 -MONDO:0957707 myelodysplastic/myeloproliferative neoplasm with sf3b1 mutation and thrombocytosis NCIT:C198581 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis MONDO:0006311 -MONDO:0957708 clonal cytopenia with monocytosis of undetermined significance NCIT:C198582 MONDO:equivalentTo Clonal Cytopenia with Monocytosis of Undetermined Significance MONDO:0006311 -MONDO:0957709 myeloid neoplasm with mutated tp53 NCIT:C198593 MONDO:equivalentTo Myeloid Neoplasm with Mutated TP53 MONDO:0005170 -MONDO:0957710 myelodysplastic syndrome/acute myeloid leukemia, not otherwise specified NCIT:C198597 MONDO:equivalentTo Myelodysplastic Syndrome/Acute Myeloid Leukemia, Not Otherwise Specified MONDO:0015041 -MONDO:0957711 pediatric and/or germline mutation-associated myeloid disorders NCIT:C198663 MONDO:equivalentTo Pediatric and/or Germline Mutation-Associated Myeloid Disorders MONDO:0005170 -MONDO:0957712 b acute lymphoblastic leukemia with germline predisposition NCIT:C198683 MONDO:equivalentTo B Acute Lymphoblastic Leukemia with Germline Predisposition MONDO:0020511 -MONDO:0957713 acute myeloid leukemia with stat3-rara NCIT:C198827 MONDO:equivalentTo Acute Myeloid Leukemia with STAT3-RARA MONDO:0100375 -MONDO:0957714 acute myeloid leukemia with t(1;17)(q42.3;q21.2); irf2bp2-rara NCIT:C198831 MONDO:equivalentTo Acute Myeloid Leukemia with t(1;17)(q42.3;q21.2); IRF2BP2-RARA MONDO:0100375 -MONDO:0957715 acute myeloid leukemia with tbl1xr1-rara NCIT:C198834 MONDO:equivalentTo Acute Myeloid Leukemia with TBL1XR1-RARA MONDO:0100375 -MONDO:0957716 acute myeloid leukemia with fip1l1-rara NCIT:C198839 MONDO:equivalentTo Acute Myeloid Leukemia with FIP1L1-RARA MONDO:0100375 -MONDO:0957717 acute myeloid leukemia with bcor-rara NCIT:C198841 MONDO:equivalentTo Acute Myeloid Leukemia with BCOR-RARA MONDO:0100375 -MONDO:0957718 acute myeloid leukemia with in-frame bzip cebpa mutation NCIT:C198891 MONDO:equivalentTo Acute Myeloid Leukemia with In-Frame bZIP CEBPA Mutation MONDO:0017894 -MONDO:0957719 acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities NCIT:C198957 MONDO:equivalentTo Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities MONDO:0100409 -MONDO:0957720 low grade endometrioid adenocarcinoma NCIT:C199146 MONDO:equivalentTo Low Grade Endometrioid Adenocarcinoma MONDO:0005026 -MONDO:0957721 high grade endometrioid adenocarcinoma NCIT:C199149 MONDO:equivalentTo High Grade Endometrioid Adenocarcinoma MONDO:0005026 -MONDO:0957722 early t precursor lymphoblastic leukemia/lymphoma NCIT:C199170 MONDO:equivalentTo Early T Precursor Lymphoblastic Leukemia/Lymphoma MONDO:0003537 -MONDO:0957724 early t precursor acute lymphoblastic leukemia, not otherwise specified NCIT:C199172 MONDO:equivalentTo Early T Precursor Acute Lymphoblastic Leukemia, Not Otherwise Specified MONDO:0100291 -MONDO:0957725 t lymphoblastic leukemia/lymphoma, not otherwise specified NCIT:C199173 MONDO:equivalentTo T Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified MONDO:0003537 -MONDO:0957726 b acute lymphoblastic leukemia with recurrent genetic abnormalities NCIT:C199202 MONDO:equivalentTo B Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities MONDO:0020511|MONDO:0035605 -MONDO:0957727 b lymphoblastic leukemia/lymphoma with myc rearrangement NCIT:C199231 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with MYC Rearrangement MONDO:0035605 -MONDO:0957728 primary cold agglutinin disease NCIT:C199387 MONDO:equivalentTo Primary Cold Agglutinin Disease MONDO:0004949 -MONDO:0957729 multiple myeloma with recurrent genetic abnormalities NCIT:C199392 MONDO:equivalentTo Multiple Myeloma with Recurrent Genetic Abnormalities MONDO:0009693 -MONDO:0957730 multiple myeloma, not otherwise specified NCIT:C199418 MONDO:equivalentTo Multiple Myeloma, Not Otherwise Specified MONDO:0009693 -MONDO:0957731 heavy chain class-switched primary cutaneous marginal zone lymphoproliferative disorder NCIT:C199457 MONDO:equivalentTo Heavy Chain Class-Switched Primary Cutaneous Marginal Zone Lymphoproliferative Disorder MONDO:0015813 -MONDO:0957732 igm-positive primary cutaneous marginal zone lymphoproliferative disorder NCIT:C199460 MONDO:equivalentTo IgM-Positive Primary Cutaneous Marginal Zone Lymphoproliferative Disorder MONDO:0015813 -MONDO:0957733 bcl2-r-negative, cd23-positive follicle center lymphoma NCIT:C199467 MONDO:equivalentTo BCL2-R-Negative, CD23-Positive Follicle Center Lymphoma MONDO:0018906 -MONDO:0957734 cyclin d1-positive mantle cell lymphoma NCIT:C199481 MONDO:equivalentTo Cyclin D1-Positive Mantle Cell Lymphoma MONDO:0018876 -MONDO:0957735 hhv-8 and ebv-negative primary effusion-based lymphoma NCIT:C199576 MONDO:equivalentTo HHV-8 and EBV-Negative Primary Effusion-Based Lymphoma MONDO:0018905 -MONDO:0957736 classic hydroa vacciniforme lymphoproliferative disorder NCIT:C199676 MONDO:equivalentTo Classic Hydroa Vacciniforme Lymphoproliferative Disorder MONDO:0018224 -MONDO:0957737 systemic hydroa vacciniforme lymphoproliferative disorder NCIT:C199677 MONDO:equivalentTo Systemic Hydroa Vacciniforme Lymphoproliferative Disorder MONDO:0018224 -MONDO:0957738 indolent nk-cell lymphoproliferative disorder of the gastrointestinal tract NCIT:C200037 MONDO:equivalentTo Indolent NK-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract MONDO:0005169 -MONDO:0957739 peripheral t-cell lymphoma-gata3 NCIT:C200073 MONDO:equivalentTo Peripheral T-Cell Lymphoma-GATA3 MONDO:0004964 -MONDO:0957740 peripheral t-cell lymphoma-tbx21 NCIT:C200074 MONDO:equivalentTo Peripheral T-Cell Lymphoma-TBX21 MONDO:0004964 -MONDO:0957741 alk-positive histiocytosis NCIT:C200105 MONDO:equivalentTo ALK-Positive Histiocytosis MONDO:0006247 -MONDO:0957742 vulvar tubulovillous adenoma NCIT:C200207 MONDO:equivalentTo Vulvar Tubulovillous Adenoma MONDO:0002198|MONDO:0000643 -MONDO:0957743 pancreatic cystic neoplasm NCIT:C200227 MONDO:equivalentTo Pancreatic Cystic Neoplasm MONDO:0021077|MONDO:0021076 -MONDO:0957744 myelodysplastic syndrome with low blasts NCIT:C200389 MONDO:equivalentTo Myelodysplastic Syndrome with Low Blasts MONDO:0018881 -MONDO:0957745 myelodysplastic syndrome with genetic abnormalities NCIT:C200390 MONDO:equivalentTo Myelodysplastic Syndrome with Genetic Abnormalities MONDO:0018881 -MONDO:0957746 myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related gene mutations NCIT:C200400 MONDO:equivalentTo Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations MONDO:0015041 -MONDO:0957747 myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities NCIT:C200402 MONDO:equivalentTo Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities MONDO:0015041 -MONDO:0957748 acute myeloid leukemia with mecom rearrangement NCIT:C200407 MONDO:equivalentTo Acute Myeloid Leukemia with MECOM Rearrangement MONDO:0020078 -MONDO:0957749 acute myeloid leukemia with nup98 rearrangement NCIT:C200411 MONDO:equivalentTo Acute Myeloid Leukemia with NUP98 Rearrangement MONDO:0020078 -MONDO:0957750 acute myeloid leukemia with fus-erg NCIT:C200419 MONDO:equivalentTo Acute Myeloid Leukemia with FUS-ERG MONDO:0020078 -MONDO:0957751 acute myeloid leukemia with npm1-mlf1 NCIT:C200420 MONDO:equivalentTo Acute Myeloid Leukemia with NPM1-MLF1 MONDO:0020078 -MONDO:0957752 acute myeloid leukemia with kat6a-crebbp NCIT:C200421 MONDO:equivalentTo Acute Myeloid Leukemia with KAT6A-CREBBP MONDO:0020078 -MONDO:0957753 acute leukemia of ambiguous lineage with defining genetic abnormalities NCIT:C200494 MONDO:equivalentTo Acute Leukemia of Ambiguous Lineage with Defining Genetic Abnormalities MONDO:0019460 -MONDO:0957754 mature plasmacytoid dendritic cell proliferation associated with myeloid neoplasm NCIT:C200513 MONDO:equivalentTo Mature Plasmacytoid Dendritic Cell Proliferation Associated with Myeloid Neoplasm MONDO:0006247 -MONDO:0957755 b lymphoblastic leukemia/lymphoma with tcf3-hlf rearrangement NCIT:C200587 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement MONDO:0035605 -MONDO:0957756 atypical teratoid/rhabdoid tumor molecular subtypes NCIT:C200597 MONDO:equivalentTo Atypical Teratoid/Rhabdoid Tumor Molecular Subtypes MONDO:0020560 -MONDO:0957757 classic follicular lymphoma NCIT:C200669 MONDO:equivalentTo Classic Follicular Lymphoma MONDO:0018906 -MONDO:0957758 follicular lymphoma with unusual cytological features NCIT:C200684 MONDO:equivalentTo Follicular Lymphoma with Unusual Cytological Features MONDO:0018906 -MONDO:0957759 cyclin d1-negative mantle cell lymphoma NCIT:C200685 MONDO:equivalentTo Cyclin D1-Negative Mantle Cell Lymphoma MONDO:0018876 -MONDO:0957760 primary large b-cell lymphoma of immune-privileged site NCIT:C200687 MONDO:equivalentTo Primary Large B-Cell Lymphoma of Immune-Privileged Site MONDO:0018905 -MONDO:0957761 ebv-negative burkitt lymphoma NCIT:C200688 MONDO:equivalentTo EBV-Negative Burkitt Lymphoma MONDO:0007243 -MONDO:0957762 plasma cell neoplasm with associated paraneoplastic syndrome NCIT:C200738 MONDO:equivalentTo Plasma Cell Neoplasm with Associated Paraneoplastic Syndrome MONDO:0004959 -MONDO:0957763 who grade 4 glioma NCIT:C200758 MONDO:equivalentTo WHO Grade 4 Glioma MONDO:0100342 -MONDO:0957764 primary cutaneous peripheral t-cell lymphoma, not otherwise specified NCIT:C201080 MONDO:equivalentTo Primary Cutaneous Peripheral T-Cell Lymphoma, Not Otherwise Specified MONDO:0000607 -MONDO:0957765 cribriform comedo-type adenocarcinoma NCIT:C201124 MONDO:equivalentTo Cribriform Comedo-Type Adenocarcinoma MONDO:0003575|MONDO:0006176 -MONDO:0957766 aleukemic myeloid leukemia NCIT:C201127 MONDO:equivalentTo Aleukemic Myeloid leukemia MONDO:0003730|MONDO:0004643 -MONDO:0957767 solid pseudopapillary neoplasm NCIT:C201136 MONDO:equivalentTo Solid Pseudopapillary Neoplasm MONDO:0004992 -MONDO:0957768 endemic burkitt lymphoma NCIT:C27122 MONDO:equivalentTo Endemic Burkitt Lymphoma MONDO:0007243 -MONDO:0957769 multicystic mesothelioma NCIT:C3765 MONDO:equivalentTo Multicystic Mesothelioma MONDO:0006856|MONDO:0021077 -MONDO:0957770 low grade myofibroblastic sarcoma NCIT:C49024 MONDO:equivalentTo Low Grade Myofibroblastic Sarcoma MONDO:0005164 -MONDO:0957771 sclerosing epithelioid fibrosarcoma NCIT:C49027 MONDO:equivalentTo Sclerosing Epithelioid Fibrosarcoma MONDO:0005164 -MONDO:0957772 meningothelial cell neoplasm NCIT:C6971 MONDO:equivalentTo Meningothelial Cell Neoplasm MONDO:0002616 -MONDO:0957773 type a lymphomatoid papulosis NCIT:C7197 MONDO:equivalentTo Type A Lymphomatoid Papulosis MONDO:0020326 -MONDO:0957774 type c lymphomatoid papulosis NCIT:C7199 MONDO:equivalentTo Type C Lymphomatoid Papulosis MONDO:0020326 -MONDO:0957775 pancreatic intraductal papillary mucinous neoplasm, oncocytic-type NCIT:C95514 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type MONDO:0004286|MONDO:0010795 -MONDO:0957850 post-essential thrombocythemia myelofibrosis NCIT:C126806 MONDO:equivalentTo Post-Essential Thrombocythemia Myelofibrosis MONDO:0005029 -MONDO:0957851 recurrent myelofibrosis NCIT:C162424 MONDO:equivalentTo Recurrent Myelofibrosis -MONDO:0957852 refractory myelofibrosis NCIT:C162425 MONDO:equivalentTo Refractory Myelofibrosis -MONDO:0957853 bone rosai-dorfman-destombes disease NCIT:C178613 MONDO:equivalentTo Bone Rosai-Dorfman-Destombes Disease MONDO:0019060|MONDO:0006412 -MONDO:0957854 stage m0 medulloblastoma NCIT:C186521 MONDO:equivalentTo Stage M0 Medulloblastoma MONDO:0007959 -MONDO:0957855 stage m1 medulloblastoma NCIT:C186522 MONDO:equivalentTo Stage M1 Medulloblastoma MONDO:0007959 -MONDO:0957856 stage m2 medulloblastoma NCIT:C186523 MONDO:equivalentTo Stage M2 Medulloblastoma MONDO:0007959 -MONDO:0957857 stage m3 medulloblastoma NCIT:C186524 MONDO:equivalentTo Stage M3 Medulloblastoma MONDO:0007959 -MONDO:0957858 stage m4 medulloblastoma NCIT:C186525 MONDO:equivalentTo Stage M4 Medulloblastoma MONDO:0007959 -MONDO:0957859 stage m0 atypical teratoid/rhabdoid tumor NCIT:C186528 MONDO:equivalentTo Stage M0 Atypical Teratoid/Rhabdoid Tumor MONDO:0020560 -MONDO:0957860 stage m1 atypical teratoid/rhabdoid tumor NCIT:C186529 MONDO:equivalentTo Stage M1 Atypical Teratoid/Rhabdoid Tumor MONDO:0020560 -MONDO:0957861 stage m2 atypical teratoid/rhabdoid tumor NCIT:C186530 MONDO:equivalentTo Stage M2 Atypical Teratoid/Rhabdoid Tumor MONDO:0020560 -MONDO:0957862 stage m3 atypical teratoid/rhabdoid tumor NCIT:C186531 MONDO:equivalentTo Stage M3 Atypical Teratoid/Rhabdoid Tumor MONDO:0020560 -MONDO:0957863 stage m4 atypical teratoid/rhabdoid tumor NCIT:C186532 MONDO:equivalentTo Stage M4 Atypical Teratoid/Rhabdoid Tumor MONDO:0020560 -MONDO:0957864 stage m0 pineoblastoma NCIT:C186568 MONDO:equivalentTo Stage M0 Pineoblastoma MONDO:0016722 -MONDO:0957865 stage m1 pineoblastoma NCIT:C186569 MONDO:equivalentTo Stage M1 Pineoblastoma MONDO:0016722 -MONDO:0957866 stage m2 pineoblastoma NCIT:C186570 MONDO:equivalentTo Stage M2 Pineoblastoma MONDO:0016722 -MONDO:0957867 stage m3 pineoblastoma NCIT:C186571 MONDO:equivalentTo Stage M3 Pineoblastoma MONDO:0016722 -MONDO:0957868 stage m4 pineoblastoma NCIT:C186572 MONDO:equivalentTo Stage M4 Pineoblastoma MONDO:0016722 -MONDO:0958220 colorectal perineurioma NCIT:C96513 MONDO:equivalentTo Colorectal Perineurioma MONDO:0015031|MONDO:0021444 -MONDO:0970840 platinum-resistant primary peritoneal carcinoma NCIT:C157622 MONDO:equivalentTo Platinum-Resistant Primary Peritoneal Carcinoma MONDO:0015686 -MONDO:0970841 platinum-resistant malignant female reproductive system neoplasm NCIT:C169021 MONDO:equivalentTo Platinum-Resistant Malignant Female Reproductive System Neoplasm MONDO:0001416 -MONDO:0970842 extracutaneous merkel cell carcinoma NCIT:C173586 MONDO:equivalentTo Extracutaneous Merkel Cell Carcinoma MONDO:0019210 -MONDO:0970843 non-neoplastic tonsillar disorder NCIT:C173798 MONDO:equivalentTo Non-Neoplastic Tonsillar Disorder -MONDO:0970844 swi/snf complex-deficient sinonasal carcinoma NCIT:C201634 MONDO:equivalentTo SWI/SNF Complex-Deficient Sinonasal Carcinoma MONDO:0056819 -MONDO:0970845 tracheal verrucous carcinoma NCIT:C201742 MONDO:equivalentTo Tracheal Verrucous Carcinoma MONDO:0001419|MONDO:0006006 -MONDO:0970846 hypopharyngeal verrucous carcinoma NCIT:C201743 MONDO:equivalentTo Hypopharyngeal Verrucous Carcinoma MONDO:0044638|MONDO:0006006 -MONDO:0970847 hypopharyngeal papillary squamous cell carcinoma NCIT:C201748 MONDO:equivalentTo Hypopharyngeal Papillary Squamous Cell Carcinoma MONDO:0002979|MONDO:0044638 -MONDO:0970848 hypopharyngeal spindle cell squamous carcinoma NCIT:C201749 MONDO:equivalentTo Hypopharyngeal Spindle Cell Squamous Carcinoma MONDO:0044638|MONDO:0021663 -MONDO:0970849 parotid gland keratocystoma NCIT:C201770 MONDO:equivalentTo Parotid Gland Keratocystoma MONDO:0021460 -MONDO:0970850 hyalinizing clear cell carcinoma NCIT:C201821 MONDO:equivalentTo Hyalinizing Clear Cell Carcinoma MONDO:0004993 -MONDO:0970851 tongue verrucous carcinoma NCIT:C201878 MONDO:equivalentTo Tongue Verrucous Carcinoma MONDO:0021538|MONDO:0000500 -MONDO:0970852 palatine tonsil hamartomatous polyp NCIT:C201900 MONDO:equivalentTo Palatine Tonsil Hamartomatous Polyp -MONDO:0970853 transformed chronic lymphocytic leukemia to hodgkin lymphoma NCIT:C201960 MONDO:equivalentTo Transformed Chronic Lymphocytic Leukemia to Hodgkin Lymphoma MONDO:0004948 -MONDO:0970854 pineoblastoma molecular subtypes NCIT:C201966 MONDO:equivalentTo Pineoblastoma Molecular Subtypes MONDO:0016722 -MONDO:0970855 spinal cord pilocytic astrocytoma NCIT:C201976 MONDO:equivalentTo Spinal Cord Pilocytic Astrocytoma MONDO:0003174|MONDO:0016691 -MONDO:0970856 brain low grade glioma NCIT:C201977 MONDO:equivalentTo Brain Low Grade Glioma MONDO:0021632|MONDO:0021637 -MONDO:0970857 clear cell calcifying epithelial odontogenic tumor NCIT:C202057 MONDO:equivalentTo Clear Cell Calcifying Epithelial Odontogenic Tumor MONDO:0022057 -MONDO:0970858 cystic/microcystic calcifying epithelial odontogenic tumor NCIT:C202058 MONDO:equivalentTo Cystic/Microcystic Calcifying Epithelial Odontogenic Tumor MONDO:0022057 -MONDO:0970859 non-calcifying/langerhans cell-rich calcifying epithelial odontogenic tumor NCIT:C202059 MONDO:equivalentTo Non-Calcifying/Langerhans Cell-Rich Calcifying Epithelial Odontogenic Tumor MONDO:0022057 -MONDO:0970860 adenoid ameloblastoma NCIT:C202061 MONDO:equivalentTo Adenoid Ameloblastoma MONDO:0017795 -MONDO:0970861 egfr-positive lung non-small cell carcinoma NCIT:C202131 MONDO:equivalentTo EGFR-Positive Lung Non-Small Cell Carcinoma MONDO:0005233 -MONDO:0970862 juvenile trabecular ossifying fibroma NCIT:C202205 MONDO:equivalentTo Juvenile Trabecular Ossifying Fibroma MONDO:0002119 -MONDO:0970863 psammomatoid ossifying fibroma NCIT:C202209 MONDO:equivalentTo Psammomatoid Ossifying Fibroma MONDO:0002119 -MONDO:0970864 surface osteoma NCIT:C202252 MONDO:equivalentTo Surface Osteoma MONDO:0005166 -MONDO:0970865 central osteoma NCIT:C202253 MONDO:equivalentTo Central Osteoma MONDO:0005166 -MONDO:0970866 rhabdomyosarcoma with tfcp2 rearrangement NCIT:C202263 MONDO:equivalentTo Rhabdomyosarcoma with TFCP2 Rearrangement MONDO:0005212 -MONDO:0970867 non-clear cell renal cell carcinoma NCIT:C202497 MONDO:equivalentTo Non-Clear Cell Renal Cell Carcinoma MONDO:0005549 -MONDO:0970868 middle ear papilloma NCIT:C202582 MONDO:equivalentTo Middle Ear Papilloma MONDO:0021078|MONDO:0021482 -MONDO:0970869 external auditory canal squamous cell carcinoma NCIT:C202594 MONDO:equivalentTo External Auditory Canal Squamous Cell Carcinoma MONDO:0003501 -MONDO:0970870 orbit solitary fibrous tumor NCIT:C202620 MONDO:equivalentTo Orbit Solitary Fibrous Tumor MONDO:0016238|MONDO:0024611 -MONDO:0970871 head and neck soft tissue neoplasm NCIT:C202623 MONDO:equivalentTo Head and Neck Soft Tissue Neoplasm MONDO:0006424|MONDO:0005586 -MONDO:0970872 proximal colon carcinoma NCIT:C202633 MONDO:equivalentTo Proximal Colon Carcinoma MONDO:0002032 -MONDO:0970873 distal colon carcinoma NCIT:C202634 MONDO:equivalentTo Distal Colon Carcinoma MONDO:0002032 -MONDO:0970874 oral cavity neurofibroma NCIT:C202860 MONDO:equivalentTo Oral Cavity Neurofibroma MONDO:0021445|MONDO:0016755 -MONDO:0970875 oral cavity schwannoma NCIT:C202876 MONDO:equivalentTo Oral Cavity Schwannoma MONDO:0021445|MONDO:0004820 -MONDO:0970876 head and neck phosphaturic mesenchymal tumor NCIT:C202879 MONDO:equivalentTo Head and Neck Phosphaturic Mesenchymal Tumor MONDO:0006368|MONDO:0005586 -MONDO:0970877 appendicular skeleton phosphaturic mesenchymal tumor NCIT:C202880 MONDO:equivalentTo Appendicular Skeleton Phosphaturic Mesenchymal Tumor MONDO:0019060|MONDO:0006368 -MONDO:0970878 poorly differentiated synovial sarcoma NCIT:C202883 MONDO:equivalentTo Poorly Differentiated Synovial Sarcoma MONDO:0010434 -MONDO:0970879 primary cd30-positive t-cell lymphoproliferative disorder NCIT:C202952 MONDO:equivalentTo Primary CD30-Positive T-Cell Lymphoproliferative Disorder MONDO:0005169 -MONDO:0970880 head and neck hematopoietic and lymphoid cell neoplasm NCIT:C202954 MONDO:equivalentTo Head and Neck Hematopoietic and Lymphoid Cell Neoplasm MONDO:0005586|MONDO:0044881 -MONDO:0970881 head and neck germ cell tumor NCIT:C202977 MONDO:equivalentTo Head and Neck Germ Cell Tumor MONDO:0018201|MONDO:0005586 -MONDO:0970882 cecum neuroendocrine tumor NCIT:C203386 MONDO:equivalentTo Cecum Neuroendocrine Tumor MONDO:0005694|MONDO:0015067 -MONDO:0970883 ascending colon neuroendocrine tumor NCIT:C203387 MONDO:equivalentTo Ascending Colon Neuroendocrine Tumor MONDO:0015067 -MONDO:0970884 descending colon neuroendocrine tumor NCIT:C203388 MONDO:equivalentTo Descending Colon Neuroendocrine Tumor MONDO:0015067 -MONDO:0970885 sigmoid colon neuroendocrine tumor NCIT:C203389 MONDO:equivalentTo Sigmoid Colon Neuroendocrine Tumor MONDO:0015067 -MONDO:0970886 transverse colon neuroendocrine tumor NCIT:C203390 MONDO:equivalentTo Transverse Colon Neuroendocrine Tumor MONDO:0015067 -MONDO:0970887 histiocytic disorder NCIT:C203422 MONDO:equivalentTo Histiocytic Disorder -MONDO:0970888 myelodysplastic chronic myelomonocytic leukemia NCIT:C203443 MONDO:equivalentTo Myelodysplastic Chronic Myelomonocytic Leukemia MONDO:0020311 -MONDO:0970889 myeloproliferative chronic myelomonocytic leukemia NCIT:C203444 MONDO:equivalentTo Myeloproliferative Chronic Myelomonocytic Leukemia MONDO:0020311 -MONDO:0970890 t acute lymphoblastic leukemia with recurrent genetic abnormalities NCIT:C203469 MONDO:equivalentTo T Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities MONDO:0004963 -MONDO:0970891 esophageal and gastroesophageal junction carcinoma NCIT:C203673 MONDO:equivalentTo Esophageal and Gastroesophageal Junction Carcinoma MONDO:0006181 -MONDO:0970892 low grade mucinous carcinoma peritonei NCIT:C203946 MONDO:equivalentTo Low Grade Mucinous Carcinoma Peritonei MONDO:0017048 -MONDO:0970893 high grade mucinous carcinoma peritonei NCIT:C203948 MONDO:equivalentTo High Grade Mucinous Carcinoma Peritonei MONDO:0017048 -MONDO:0970894 merkel cell polyoma virus-positive merkel cell carcinoma NCIT:C204383 MONDO:equivalentTo Merkel Cell Polyoma Virus-Positive Merkel Cell Carcinoma MONDO:0019210 -MONDO:0970895 merkel cell polyoma virus-negative merkel cell carcinoma NCIT:C204385 MONDO:equivalentTo Merkel Cell Polyoma Virus-Negative Merkel Cell Carcinoma MONDO:0019210 -MONDO:0970896 lentiginous melanocytic nevus NCIT:C204482 MONDO:equivalentTo Lentiginous Melanocytic Nevus MONDO:0044794 -MONDO:0970897 mitf pathway-activated melanocytic tumor NCIT:C204739 MONDO:equivalentTo MITF Pathway-Activated Melanocytic Tumor MONDO:0021583 -MONDO:0970898 dermal spitz nevus NCIT:C204789 MONDO:equivalentTo Dermal Spitz Nevus MONDO:0006813|MONDO:0044793 -MONDO:0970899 spitz tumor NCIT:C204790 MONDO:equivalentTo Spitz Tumor MONDO:0021583 -MONDO:0970900 melanoma in intermittently sun-exposed skin NCIT:C204840 MONDO:equivalentTo Melanoma in Intermittently Sun-Exposed Skin MONDO:0005012 -MONDO:0970901 low-csd melanoma, superficial spreading melanoma subtype NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype MONDO:0020638 -MONDO:0970902 melanoma in chronically sun-exposed skin NCIT:C204864 MONDO:equivalentTo Melanoma in Chronically Sun-Exposed Skin MONDO:0005012 -MONDO:0970903 mucosal nevus NCIT:C204907 MONDO:equivalentTo Mucosal Nevus MONDO:0005073 -MONDO:0970904 dendritic blue nevus NCIT:C204910 MONDO:equivalentTo Dendritic Blue Nevus MONDO:0006680 -MONDO:0970905 intermediate congenital melanocytic nevus NCIT:C204976 MONDO:equivalentTo Intermediate Congenital Melanocytic Nevus MONDO:0044792 -MONDO:0970906 conjunctival melanocytic neoplasm NCIT:C204977 MONDO:equivalentTo Conjunctival Melanocytic Neoplasm MONDO:0021143|MONDO:0020204 -MONDO:0970907 uveal melanocytic neoplasm NCIT:C205057 MONDO:equivalentTo Uveal Melanocytic Neoplasm MONDO:0021143|MONDO:0021225 -MONDO:0970908 nodular melanoma NCIT:C205125 MONDO:equivalentTo Nodular Melanoma MONDO:0005105 -MONDO:0970909 dermal melanoma NCIT:C205129 MONDO:equivalentTo Dermal Melanoma MONDO:0005012 -MONDO:0970910 metastatic melanoma in the lymph nodes NCIT:C205131 MONDO:equivalentTo Metastatic Melanoma in the Lymph Nodes MONDO:0005191|MONDO:0005438 -MONDO:0970911 platinum-sensitive endometrial carcinoma NCIT:C205187 MONDO:equivalentTo Platinum-Sensitive Endometrial Carcinoma MONDO:0002447 -MONDO:0970912 early stage cervical carcinoma NCIT:C205287 MONDO:equivalentTo Early Stage Cervical Carcinoma MONDO:0005131 -MONDO:0970913 early stage clear cell renal cell carcinoma NCIT:C205289 MONDO:equivalentTo Early Stage Clear Cell Renal Cell Carcinoma MONDO:0005005 -MONDO:0970914 early stage colorectal carcinoma NCIT:C205290 MONDO:equivalentTo Early Stage Colorectal Carcinoma MONDO:0024331 -MONDO:0970915 early stage endometrial carcinoma NCIT:C205295 MONDO:equivalentTo Early Stage Endometrial Carcinoma MONDO:0002447 -MONDO:0970916 early stage esophageal carcinoma NCIT:C205298 MONDO:equivalentTo Early Stage Esophageal Carcinoma MONDO:0019086 -MONDO:0970917 early stage hepatocellular carcinoma NCIT:C205301 MONDO:equivalentTo Early Stage Hepatocellular Carcinoma MONDO:0007256 -MONDO:0970918 early stage lung non-small cell carcinoma NCIT:C205303 MONDO:equivalentTo Early Stage Lung Non-Small Cell Carcinoma MONDO:0005233 -MONDO:0970919 early stage malignant skin neoplasm NCIT:C205307 MONDO:equivalentTo Early Stage Malignant Skin Neoplasm MONDO:0002898 -MONDO:0970920 primary cutaneous nut adnexal carcinoma NCIT:C205357 MONDO:equivalentTo Primary Cutaneous NUT Adnexal Carcinoma MONDO:0005563|MONDO:0006973 -MONDO:0970921 trichogerminoma NCIT:C205371 MONDO:equivalentTo Trichogerminoma MONDO:0020593 -MONDO:0970922 apocrine cystadenoma NCIT:C205459 MONDO:equivalentTo Apocrine Cystadenoma MONDO:0002804|MONDO:0002369 -MONDO:0970923 eccrine poroma NCIT:C205462 MONDO:equivalentTo Eccrine Poroma MONDO:0006738|MONDO:0024247 -MONDO:0970924 hidroacanthoma simplex NCIT:C205475 MONDO:equivalentTo Hidroacanthoma Simplex MONDO:0006738 -MONDO:0970925 solid cystic hidradenoma NCIT:C205539 MONDO:equivalentTo Solid Cystic Hidradenoma MONDO:0002805 -MONDO:0970926 sialoblastoma NCIT:C35837 MONDO:equivalentTo Sialoblastoma MONDO:0004669 -MONDO:0970927 cribriform trichoblastoma NCIT:C43322 MONDO:equivalentTo Cribriform Trichoblastoma MONDO:0020593 -MONDO:0970928 lung neuroendocrine carcinoma NCIT:C45569 MONDO:equivalentTo Lung Neuroendocrine Carcinoma MONDO:0005454|MONDO:0005138|MONDO:0002120 -MONDO:0970929 branchioma NCIT:C53595 MONDO:equivalentTo Branchioma MONDO:0021455 -MONDO:0970930 ear carcinoma NCIT:C54262 MONDO:equivalentTo Ear Carcinoma MONDO:0003277|MONDO:0002038 -MONDO:0970931 intracranial melanoma NCIT:C5442 MONDO:equivalentTo Intracranial Melanoma MONDO:0003761|MONDO:0001657|MONDO:0021632 -MONDO:0970932 meckel diverticulum neuroendocrine tumor g1 NCIT:C6424 MONDO:equivalentTo Meckel Diverticulum Neuroendocrine Tumor G1 MONDO:0021533 -MONDO:0970933 duodenal neuroendocrine tumor g1 NCIT:C6425 MONDO:equivalentTo Duodenal Neuroendocrine Tumor G1 MONDO:0000540|MONDO:0015063 -MONDO:0970934 intracranial myeloid sarcoma NCIT:C7008 MONDO:equivalentTo Intracranial Myeloid Sarcoma MONDO:0003641|MONDO:0001657|MONDO:0006861|MONDO:0021632 -MONDO:0970935 hamartomatous polyp NCIT:C8372 MONDO:equivalentTo Hamartomatous Polyp -MONDO:0970936 well differentiated fibrosarcoma NCIT:C9025 MONDO:equivalentTo Well Differentiated Fibrosarcoma MONDO:0005164 -MONDO:0970937 poorly differentiated angiosarcoma NCIT:C9031 MONDO:equivalentTo Poorly Differentiated Angiosarcoma MONDO:0016982 -MONDO:0970938 well differentiated leiomyosarcoma NCIT:C9389 MONDO:equivalentTo Well Differentiated Leiomyosarcoma MONDO:0005058 -MONDO:0970939 poorly differentiated fibrosarcoma NCIT:C9404 MONDO:equivalentTo Poorly Differentiated Fibrosarcoma MONDO:0005164 -MONDO:0970940 low grade sarcoma NCIT:C9417 MONDO:equivalentTo Low Grade Sarcoma MONDO:0005089 -MONDO:0970941 high grade sarcoma NCIT:C9418 MONDO:equivalentTo High Grade Sarcoma MONDO:0005089 +MONDO:0860070 neonatal disorder NCIT:C98996 MONDO:equivalentTo Neonatal Disorder A non-neoplastic or neoplastic disorder which occurs during the neonatal period. +MONDO:0950158 core binding factor acute myeloid leukemia NCIT:C122688 MONDO:equivalentTo Core Binding Factor Acute Myeloid Leukemia Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. MONDO:0020078 +MONDO:0955884 adult acute eosinophilic leukemia NCIT:C7963 MONDO:equivalentTo Adult Acute Eosinophilic Leukemia An acute eosinophilic leukemia occurring in adults. MONDO:0043881 +MONDO:0956044 acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13.3;q13.1); rbm15-mkl1 NCIT:C82427 MONDO:equivalentTo Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 An acute myeloid leukemia associated with t(1;22)(p13.3;q13.1) resulting in the expression of RBM15-MKL1 fusion protein. It affects infants and children and usually shows megakaryocytic maturation. MONDO:0020078 +MONDO:0956704 childhood acute eosinophilic leukemia NCIT:C9165 MONDO:equivalentTo Childhood Acute Eosinophilic Leukemia An acute eosinophilic leukemia occurring in children. MONDO:0043881 +MONDO:0956756 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); cbfb-myh11 NCIT:C9287 MONDO:equivalentTo Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 An acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil component in the bone marrow. This type of acute myeloid leukemia has a favorable prognosis. (WHO, 2001) MONDO:0020078 +MONDO:0956757 acute myeloid leukemia with t(8;21)(q22; q22.1); runx1-runx1t1 NCIT:C9288 MONDO:equivalentTo Acute Myeloid Leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 An acute myeloid leukemia with t(8;21)(q22; q22.1) giving rise to RUNX1/RUNX1T1 fusion transcript and showing maturation in the neutrophil lineage. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. This type of AML is associated with good response to chemotherapy and high complete remission rate. MONDO:0020078 +MONDO:0957380 cic-rearranged sarcoma NCIT:C120224 MONDO:equivalentTo CIC-Rearranged Sarcoma An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. MONDO:0858921 +MONDO:0957623 smoldering systemic mastocytosis NCIT:C115460 MONDO:equivalentTo Smoldering Systemic Mastocytosis Slowly progressive systemic mastocytosis with uncertain prognosis. It is characterized by organomegaly and absence of aggressive disease. MONDO:0016586 +MONDO:0957624 indolent clonal t-cell lymphoproliferative disorder of the gastrointestinal tract NCIT:C139021 MONDO:equivalentTo Indolent Clonal T-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract A clonal T-cell lymphoproliferative disorder that can involve the mucosa in all sites of the gastrointestinal tract, but is most common in the small intestine and colon. The lymphoid cells infiltrate the lamina propria but usually do not show invasion of the epithelium. The clinical course is indolent, but most patients do not respond to conventional chemotherapy. A subset of cases progress to a higher-grade T-cell lymphoma with spread beyond the gastrointestinal tract. (WHO 2017) MONDO:0005169 +MONDO:0957625 penile adenosquamous carcinoma NCIT:C159248 MONDO:equivalentTo Penile Adenosquamous Carcinoma An extremely rare carcinoma that arises from the penis and is characterized by the presence of glandular and squamous components. MONDO:0006360|MONDO:0006074 +MONDO:0957626 seminal vesicle soft tissue neoplasm NCIT:C161637 MONDO:equivalentTo Seminal Vesicle Soft Tissue Neoplasm A mesenchymal neoplasm that arises from the seminal vesicle. MONDO:0002790|MONDO:0006424 +MONDO:0957627 hepatocellular malignant neoplasm, not otherwise specified NCIT:C161838 MONDO:equivalentTo Hepatocellular Malignant Neoplasm, Not Otherwise Specified A rare childhood malignant liver neoplasm with overlapping features of hepatoblastoma and hepatocellular carcinoma. MONDO:0018666 +MONDO:0957628 epididymal melanotic neuroectodermal tumor NCIT:C162488 MONDO:equivalentTo Epididymal Melanotic Neuroectodermal Tumor A rare neoplasm that arises from the epididymis and is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It usually occurs in infants and has a benign clinical course. MONDO:0002072|MONDO:0021473 +MONDO:0957629 systemic mastocytosis with an associated germ cell tumor NCIT:C186735 MONDO:equivalentTo Systemic Mastocytosis with an Associated Germ Cell Tumor A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a co-occurring germ cell tumor. MONDO:0016586 +MONDO:0957630 estrogen receptor-positive breast carcinoma NCIT:C188366 MONDO:equivalentTo Estrogen Receptor-Positive Breast Carcinoma Breast adenocarcinoma that is positive for estrogen receptors. +MONDO:0957631 childhood myelodysplastic syndrome with excess blasts NCIT:C188449 MONDO:equivalentTo Childhood Myelodysplastic Syndrome with Excess Blasts Myelodysplastic syndrome with excess blasts that occurs during childhood. MONDO:0044873|MONDO:0019454 +MONDO:0957632 childhood acute myeloid leukemia with t(9;11)(p21.3;q23.3); mllt3-kmt2a NCIT:C188451 MONDO:equivalentTo Childhood Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A An acute myeloid leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A occurring in children. MONDO:0004996|MONDO:0020317 +MONDO:0957633 lung small cell carcinoma neuroendocrine subtype NCIT:C188753 MONDO:equivalentTo Lung Small Cell Carcinoma Neuroendocrine Subtype A header term that refers to the classification of lung small cell carcinoma based on the expression pattern of different neuroendocrine markers such as chromogranin A, synaptophysin, neural cell adhesion molecule 1, and gastrin-releasing peptide. MONDO:0008433 +MONDO:0957634 lung small cell carcinoma molecular subtypes NCIT:C188756 MONDO:equivalentTo Lung Small Cell Carcinoma Molecular Subtypes A header term that refers to the molecular classification of lung small cell carcinoma according to the relative expression of four transcription factors: achaete-scute homolog 1 (ASCL1), neurogenic differentiation factor 1 (NEUROD1), yes-associated protein 1 (YAP1), and POU class 2 homeobox 3 (POU2F3). MONDO:0008433 +MONDO:0957635 adult ganglioneuroma NCIT:C188947 MONDO:equivalentTo Adult Ganglioneuroma A ganglioneuroma that occurs in adults. MONDO:0005033 +MONDO:0957636 childhood nervous system neoplasm NCIT:C188950 MONDO:equivalentTo Childhood Nervous System Neoplasm A neoplasm that affects the nervous system during childhood. MONDO:0021079|MONDO:0021248 +MONDO:0957637 choroidal ganglioneuroma NCIT:C188956 MONDO:equivalentTo Choroidal Ganglioneuroma A rare ganglioneuroma that arises from the choroid. MONDO:0021487|MONDO:0005033 +MONDO:0957638 childhood connective and soft tissue neoplasm NCIT:C188963 MONDO:equivalentTo Childhood Connective and Soft Tissue Neoplasm A soft tissue or bone neoplasm that occurs during childhood. MONDO:0021079|MONDO:0044334 +MONDO:0957639 childhood low grade fibromyxoid sarcoma NCIT:C188970 MONDO:equivalentTo Childhood Low Grade Fibromyxoid Sarcoma A low-grade fibromyxoid sarcoma that occurs during childhood. MONDO:0006272|MONDO:0002678 +MONDO:0957640 extragonadal teratoma NCIT:C189045 MONDO:equivalentTo Extragonadal Teratoma A teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. MONDO:0018201|MONDO:0002601 +MONDO:0957641 testicular teratoma, postpubertal-type NCIT:C189057 MONDO:equivalentTo Testicular Teratoma, Postpubertal-Type A testicular teratoma associated with germ cell neoplasia in situ and chromosome 12p amplification. MONDO:0018193|MONDO:0003510 +MONDO:0957642 kidney carcinoma molecular subtypes NCIT:C189241 MONDO:equivalentTo Kidney Carcinoma Molecular Subtypes A term that refers to the classification of kidney carcinomas according to their molecular characteristics. MONDO:0005206 +MONDO:0957644 ovarian sertoli-leydig cell tumor molecular subtypes NCIT:C189319 MONDO:equivalentTo Ovarian Sertoli-Leydig Cell Tumor Molecular Subtypes A term that refers to the classification of ovarian Sertoli-Leydig cell tumors according to their molecular characteristics. MONDO:0036595 +MONDO:0957645 mullerian papilloma NCIT:C189336 MONDO:equivalentTo Mullerian Papilloma A benign papillary neoplasm that arises from the cervix or vagina. It mostly occurs in prepubertal girls and rarely in adolescents or young adults. It is characterized by the presence of a fibrovascular core covered by cuboidal or columnar epithelial cells. Squamous metaplasia may be present. Cytologic atypia is absent. MONDO:0021078 +MONDO:0957646 childhood breast neoplasm NCIT:C189338 MONDO:equivalentTo Childhood Breast Neoplasm A neoplasm that affects the breast and occurs during childhood. MONDO:0021079|MONDO:0021100 +MONDO:0957647 childhood digestive system neoplasm NCIT:C189869 MONDO:equivalentTo Childhood Digestive System Neoplasm A neoplasm that affects any part of the digestive system and occurs during childhood. MONDO:0021079|MONDO:0021223 +MONDO:0957648 epithelial hepatoblastoma NCIT:C189923 MONDO:equivalentTo Epithelial Hepatoblastoma A subtype of hepatoblastoma characterized by the presence of an epithelial component and absence of mesenchymal elements. It includes hepatoblastoma with pure fetal epithelial differentiation, hepatoblastoma with combined fetal and embryonal epithelial differentiation, macrotrabecular hepatoblastoma, and small cell undifferentiated hepatoblastoma (small cell undifferentiated hepatoblastoma with loss of INI1 nuclear staining should be classified as rhabdoid tumor). MONDO:0018666 +MONDO:0957649 non-teratoid hepatoblastoma NCIT:C189926 MONDO:equivalentTo Non-Teratoid Hepatoblastoma A mixed epithelial and mesenchymal hepatoblastoma characterized by the absence of heterologous elements, muscle, cartilage or osteoid. MONDO:0003650 +MONDO:0957650 hepatoblastoma by pretext stage NCIT:C189927 MONDO:equivalentTo Hepatoblastoma by PRETEXT Stage A term that refers to the staging of hepatoblastoma, following the rules of the PRETEXT (pre-treatment extent of tumor) system. MONDO:0018666 +MONDO:0957651 hepatoblastoma by postsurgical stage NCIT:C189929 MONDO:equivalentTo Hepatoblastoma by Postsurgical Stage A term that refers to the staging of hepatoblastoma according to post-operative findings. MONDO:0018666 +MONDO:0957652 childhood fibrolamellar carcinoma NCIT:C189932 MONDO:equivalentTo Childhood Fibrolamellar Carcinoma A fibrolamellar variant of hepatocellular carcinoma that occurs during childhood. MONDO:0018055|MONDO:0006210 +MONDO:0957653 childhood endocrine neoplasm NCIT:C190056 MONDO:equivalentTo Childhood Endocrine Neoplasm A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ during childhood. MONDO:0021079|MONDO:0002082 +MONDO:0957654 childhood thoracic neoplasm NCIT:C190090 MONDO:equivalentTo Childhood Thoracic Neoplasm A benign or malignant neoplasm that involves the tissues of the thorax during childhood. MONDO:0021079|MONDO:0021350 +MONDO:0957655 childhood head and neck neoplasm NCIT:C190119 MONDO:equivalentTo Childhood Head and Neck Neoplasm A benign or malignant neoplasm that affects the anatomic structures of the head and neck region and occurs during childhood. MONDO:0005586|MONDO:0021079 +MONDO:0957656 childhood skin neoplasm NCIT:C190123 MONDO:equivalentTo Childhood Skin Neoplasm A benign, intermediate, or malignant neoplasm that affects the skin and occurs during childhood. MONDO:0002531|MONDO:0021079 +MONDO:0957657 childhood carcinoma NCIT:C190275 MONDO:equivalentTo Childhood Carcinoma A rare carcinoma that occurs during childhood. MONDO:0004993|MONDO:0036491 +MONDO:0957658 refractory t/nk-cell lymphoproliferative disorder NCIT:C190397 MONDO:equivalentTo Refractory T/NK-Cell Lymphoproliferative Disorder T/NK-cell lymphoproliferative disorder that is resistant to treatment. +MONDO:0957659 recurrent t/nk-cell lymphoproliferative disorder NCIT:C190398 MONDO:equivalentTo Recurrent T/NK-Cell Lymphoproliferative Disorder The reemergence of T/NK-cell lymphoproliferative disorder after a period of remission. +MONDO:0957660 ebv-related t/nk-cell lymphoproliferative disorder NCIT:C190402 MONDO:equivalentTo EBV-Related T/NK-Cell Lymphoproliferative Disorder T/NK-cell lymphoproliferative disorder that is associated with Epstein-Barr virus. +MONDO:0957661 childhood benign neoplasm NCIT:C190573 MONDO:equivalentTo Childhood Benign Neoplasm A neoplasm that occurs during childhood and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0021079|MONDO:0005165 +MONDO:0957662 benign liver neoplasm NCIT:C190592 MONDO:equivalentTo Benign Liver Neoplasm A neoplasm that arises from the liver and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0024477|MONDO:0000385 +MONDO:0957663 high grade endometrial carcinoma NCIT:C190680 MONDO:equivalentTo High Grade Endometrial Carcinoma A group of aggressive endometrial carcinomas with high-grade histological features. It includes high grade endometrial endometrioid adenocarcinoma, endometrial clear cell adenocarcinoma, endometrial serous adenocarcinoma, and endometrial undifferentiated carcinoma. MONDO:0002447 +MONDO:0957664 iridociliary melanoma NCIT:C190746 MONDO:equivalentTo Iridociliary Melanoma Melanoma that affects both the iris and ciliary body. MONDO:0006486 +MONDO:0957665 b acute lymphoblastic leukemia associated with down syndrome NCIT:C190847 MONDO:equivalentTo B Acute Lymphoblastic Leukemia Associated with Down Syndrome A B-acute lymphoblastic leukemia that occurs in patients with Down syndrome. It usually affects young children, but it can occur in adults as well. It has an unfavorable clinical outcome. Cases of T-acute lymphoblastic leukemia in patients with Down syndrome have not been reported. MONDO:0020511 +MONDO:0957666 androgen receptor-positive breast carcinoma NCIT:C190851 MONDO:equivalentTo Androgen Receptor-Positive Breast Carcinoma Breast carcinoma that is positive for androgen receptors. +MONDO:0957667 b lymphoblastic leukemia/lymphoma with etv6-runx1-like features NCIT:C190956 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1-Like Features B lymphoblastic leukemia/lymphoma characterized by a gene-expression profile similar to that of ETV6-RUNX1-positive B lymphoblastic leukemia/lymphoma, absence of the pathognomonic ETV6-RUNX1 rearrangement, and rearrangements or deletions of ETV6 and IKZF1 genes. MONDO:0035605 +MONDO:0957668 renal cell carcinoma, not otherwise specified NCIT:C191370 MONDO:equivalentTo Renal Cell Carcinoma, Not Otherwise Specified A renal cell carcinoma that cannot be classified into one of the established subtypes of renal cell carcinoma. MONDO:0005549 +MONDO:0957669 kidney classic angiomyolipoma NCIT:C191391 MONDO:equivalentTo Kidney Classic Angiomyolipoma A benign mesenchymal tumor that arises from the kidney and is composed of mature adipose tissue, thick-walled blood vessels, and epithelioid and spindle smooth muscle cells. MONDO:0002513|MONDO:0004555 +MONDO:0957670 secondary plasma cell leukemia NCIT:C191432 MONDO:equivalentTo Secondary Plasma Cell Leukemia Transformation of plasma cell myeloma to plasma cell leukemia. MONDO:0018689|MONDO:0024881 +MONDO:0957671 papillary urothelial neoplasm of low malignant potential NCIT:C191672 MONDO:equivalentTo Papillary Urothelial Neoplasm of Low Malignant Potential A papillary neoplasm of the urothelium. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas. MONDO:0003755|MONDO:0003443 +MONDO:0957672 invasive lymphoepithelioma-like urothelial carcinoma NCIT:C191678 MONDO:equivalentTo Invasive Lymphoepithelioma-Like Urothelial Carcinoma Invasive urothelial carcinoma with lymphoepithelioma-like features. MONDO:0003572|MONDO:0040678 +MONDO:0957673 invasive giant cell urothelial carcinoma NCIT:C191679 MONDO:equivalentTo Invasive Giant Cell Urothelial Carcinoma An invasive urothelial carcinoma characterized by the presence of giant cells. MONDO:0040678 +MONDO:0957674 invasive urothelial carcinoma with glandular differentiation NCIT:C191680 MONDO:equivalentTo Invasive Urothelial Carcinoma with Glandular Differentiation An invasive urothelial carcinoma that exhibits glandular differentiation. MONDO:0040678 +MONDO:0957675 invasive urothelial carcinoma with squamous differentiation NCIT:C191681 MONDO:equivalentTo Invasive Urothelial Carcinoma with Squamous Differentiation An invasive urothelial carcinoma that exhibits squamous differentiation. MONDO:0040678 +MONDO:0957676 invasive urothelial carcinoma with trophoblastic differentiation NCIT:C191682 MONDO:equivalentTo Invasive Urothelial Carcinoma with Trophoblastic Differentiation An invasive urothelial carcinoma characterized by the presence of trophoblastic differentiation. MONDO:0040678 +MONDO:0957677 invasive clear cell (glycogen-rich) urothelial carcinoma NCIT:C191683 MONDO:equivalentTo Invasive Clear Cell (Glycogen-Rich) Urothelial Carcinoma An invasive urothelial carcinoma characterized by the presence of clear (glycogen-rich) cells. MONDO:0040678 +MONDO:0957678 invasive lipid-rich urothelial carcinoma NCIT:C191684 MONDO:equivalentTo Invasive Lipid-Rich Urothelial Carcinoma Invasive urothelial carcinoma characterized by the presence of lipid laden tumor cells. MONDO:0040678 +MONDO:0957679 invasive microcystic urothelial carcinoma NCIT:C191685 MONDO:equivalentTo Invasive Microcystic Urothelial Carcinoma Invasive urothelial carcinoma characterized by microcysts formation. MONDO:0040678 +MONDO:0957680 invasive nested urothelial carcinoma NCIT:C191687 MONDO:equivalentTo Invasive Nested Urothelial Carcinoma Invasive urothelial carcinoma characterized by a nested growth pattern. MONDO:0040678 +MONDO:0957681 invasive plasmacytoid urothelial carcinoma NCIT:C191688 MONDO:equivalentTo Invasive Plasmacytoid Urothelial Carcinoma Invasive urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features. MONDO:0040678 +MONDO:0957682 invasive large nested urothelial carcinoma NCIT:C191725 MONDO:equivalentTo Invasive Large Nested Urothelial Carcinoma A rare invasive urothelial carcinoma characterized by the presence of medium to large nests of malignant cells. MONDO:0040678 +MONDO:0957683 invasive tubular urothelial carcinoma NCIT:C191728 MONDO:equivalentTo Invasive Tubular Urothelial Carcinoma Invasive urothelial carcinoma characterized by the presence of a tubular growth pattern. MONDO:0040678 +MONDO:0957684 invasive poorly differentiated urothelial carcinoma NCIT:C191730 MONDO:equivalentTo Invasive Poorly Differentiated Urothelial Carcinoma Invasive urothelial carcinoma that lacks the morphological features indicating urothelial origin. Immunohistochemical studies are required to demonstrate the urothelial lineage in these tumors. MONDO:0040678 +MONDO:0957685 invasive conventional urothelial carcinoma NCIT:C191734 MONDO:equivalentTo Invasive Conventional Urothelial Carcinoma Invasive urothelial carcinoma characterized by the presence of malignant cells forming trabeculae, cords, sheets, and nests. Individual malignant cells are also present. MONDO:0040678 +MONDO:0957686 prostatic intraepithelial neoplasia-like adenocarcinoma NCIT:C191961 MONDO:equivalentTo Prostatic Intraepithelial Neoplasia-Like Adenocarcinoma A rare subtype of prostate acinar adenocarcinoma that morphologically resembles high-grade prostatic intraepithelial neoplasia. It is characterized by the presence of large malignant glands lined with pseudostratified epithelium. It is graded as Gleason score 3+3=6. MONDO:0002493 +MONDO:0957687 extrapulmonary neuroendocrine carcinoma NCIT:C191977 MONDO:equivalentTo Extrapulmonary Neuroendocrine Carcinoma A small or large cell neuroendocrine carcinoma that arises from an anatomic site other than the lung. MONDO:0002120 +MONDO:0957688 intratubular embryonal carcinoma NCIT:C192096 MONDO:equivalentTo Intratubular Embryonal Carcinoma Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by embryonal carcinoma cells. Central necrosis and calcifications are often present. MONDO:0006446|MONDO:0004520 +MONDO:0957689 testicular yolk sac tumor, postpubertal-type NCIT:C192099 MONDO:equivalentTo Testicular Yolk Sac Tumor, Postpubertal-Type Testicular yolk sac tumor that is associated with germ cell neoplasia in situ and usually occurs as a component of mixed germ cell tumor. Pure postpubertal-type testicular yolk sac tumor is exceedingly rare. MONDO:0003402 +MONDO:0957690 cystic trophoblastic tumor NCIT:C192105 MONDO:equivalentTo Cystic Trophoblastic Tumor A rare trophoblastic neoplasm that arises in metastatic sites of testicular mixed germ cell tumors following chemotherapy, or is part of treated or untreated testicular mixed germ cell tumors, or is secondary to either chemotherapy-induced or spontaneous regression of testicular choriocarcinoma. It has also been described in central nervous system post-chemotherapy primary germ cell tumors. It is characterized by the presence of cysts lined by squamoid trophoblastic cells. The cysts are often compressed surrounded by other germ cell components. MONDO:0021077|MONDO:0002872 +MONDO:0957691 testicular teratoma, prepubertal-type NCIT:C192107 MONDO:equivalentTo Testicular Teratoma, Prepubertal-Type A testicular teratoma that is not associated with germ cell neoplasia in situ or chromosome 12p amplification. MONDO:0018193 +MONDO:0957692 gonadal myoid stromal tumor NCIT:C192116 MONDO:equivalentTo Gonadal Myoid Stromal Tumor A rare, benign, well-circumscribed tumor that arises from the testis. It is characterized by the presence of fascicles of spindle cells showing muscle cell differentiation. It lacks sex cord differentiation. MONDO:0021447 +MONDO:0957693 penile squamous cell carcinoma, not otherwise specified NCIT:C192222 MONDO:equivalentTo Penile Squamous Cell Carcinoma, Not Otherwise Specified A penile squamous cell carcinoma characterized by the absence of special morphologic features and lack of information on p16 immunohistochemistry and human papilloma virus testing status. MONDO:0018352 +MONDO:0957694 penile mucoepidermoid carcinoma NCIT:C192223 MONDO:equivalentTo Penile Mucoepidermoid Carcinoma An extremely rare carcinoma that arises from the penis and is characterized by the presence of mucinous and squamous components. MONDO:0006360|MONDO:0003036 +MONDO:0957695 urinary tract neoplasm NCIT:C192666 MONDO:equivalentTo Urinary Tract Neoplasm A benign or malignant, primary or metastatic neoplasm involving the urinary tract (renal pelvis, ureter, bladder, and urethra). MONDO:0021066 +MONDO:0957696 benign cranial nerve neoplasm NCIT:C193416 MONDO:equivalentTo Benign Cranial Nerve Neoplasm A neoplasm that arises from a cranial nerve and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. MONDO:0002633|MONDO:0000648 +MONDO:0957697 benign spinal meningioma NCIT:C193417 MONDO:equivalentTo Benign Spinal Meningioma A grade I, slowly growing meningioma that arises from the spinal meninges. MONDO:0003054|MONDO:0001279 +MONDO:0957698 rectal gastrointestinal stromal tumor NCIT:C193420 MONDO:equivalentTo Rectal Gastrointestinal Stromal Tumor Gastrointestinal stromal tumor that arises from the rectum. MONDO:0002165|MONDO:0006159 +MONDO:0957699 malignant ileal neoplasm NCIT:C193425 MONDO:equivalentTo Malignant Ileal Neoplasm A primary or metastatic malignant neoplasm involving the ileum. MONDO:0006801|MONDO:0000956 +MONDO:0957700 refractory malignant phyllodes tumor NCIT:C193453 MONDO:equivalentTo Refractory Malignant Phyllodes Tumor Malignant phyllodes tumor that is resistant to treatment. MONDO:0037003|MONDO:0036501 +MONDO:0957701 childhood cancer stage by toronto guidelines v2 NCIT:C198027 MONDO:equivalentTo Childhood Cancer Stage by Toronto Guidelines v2 A term that refers to the staging of childhood cancers following the rules of the Toronto guidelines v2, 2019. The guidelines were developed to address the lack of consistent information on childhood cancer staging in population registries and are not intended to replace staging systems in clinical use. They include a two-tiered approach that provides less detailed criteria for registries with limited resources and/or limited data access (Tier 1) and more detailed criteria for better-resourced registries (Tier 2). They apply to acute lymphoblastic leukemia, Hodgkin lymphoma, non-Hodgkin lymphoma, neuroblastoma, renal malignant tumors except renal cell carcinoma, rhabdomyosarcoma, non-rhabdomyosarcoma soft tissue sarcoma, malignant bone tumors, retinoblastoma, hepatoblastoma, testicular germ cell tumors, ovarian germ cell tumors, astrocytoma, medulloblastoma and ependymoma. The following changes were noted to the original classification (v1, 2014): a staging system was no longer considered appropriate for acute myeloid leukemia; all renal tumors, with the exception of renal cell carcinomas, should use the endorsed staging systems for Wilms tumor; staging systems for osteosarcoma and Ewing sarcoma were combined into a single recommendation for all malignant bone tumors; a staging system was endorsed for astrocytomas; the S category (serum tumor markers) was confirmed as an integral part of TNM staging for testicular cancer in Tier 2 recommendations; and PRETEXT number was added to Tier 2 recommendations for hepatoblastoma. (adapted from Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.) MONDO:0006517 +MONDO:0957702 myeloproliferative neoplasm, bcr-abl1 negative NCIT:C198555 MONDO:equivalentTo Myeloproliferative Neoplasm, BCR-ABL1 Negative A myeloproliferative neoplasm characterized by the absence of Philadelphia chromosome and BCR-ABL1 fusion gene expression. This group includes polycythemia vera, essential thrombocythemia, and primary myelofibrosis. MONDO:0020076 +MONDO:0957703 myeloid/lymphoid neoplasms with flt3 rearrangement NCIT:C198559 MONDO:equivalentTo Myeloid/Lymphoid Neoplasms with FLT3 Rearrangement Hematologic neoplasms characterized by the rearrangement of the FLT3 gene, most often resulting in the formation of t(12;13)(p13.2;q12.2)/ETV6-FLT3 fusion transcripts. Patients usually present with T-ALL or myeloid sarcoma. MONDO:0015688 +MONDO:0957704 myeloid/lymphoid neoplasms with etv6-abl1 NCIT:C198565 MONDO:equivalentTo Myeloid/Lymphoid Neoplasms with ETV6-ABL1 Hematologic neoplasms characterized by t(9;12)(q34.1;p13.2) that results in ETV6-ABL1 gene fusion. They have clinicopathological features of chronic myeloid leukemia with frequent eosinophilia. MONDO:0015688 +MONDO:0957705 bone marrow mastocytosis NCIT:C198573 MONDO:equivalentTo Bone Marrow Mastocytosis A variant of indolent systemic mastocytosis that affects predominantly older males. It is characterized by a limited degree of bone marrow infiltration by clonal mast cells and an absence of skin involvement. The serum tryptase levels are normal or slightly elevated. MONDO:0020331 +MONDO:0957706 clonal monocytosis of undetermined significance NCIT:C198580 MONDO:equivalentTo Clonal Monocytosis of Undetermined Significance A myelodysplastic/myeloproliferative neoplasm characterized by the presence of persistent monocytosis, presence of at least one myeloid neoplasm-associated mutation, absence of significant dysplasia or increased blasts in the bone marrow, absence of morphologic findings suggestive of chronic myelomonocytic leukemia in the bone marrow, and absence of history of a reactive condition that would explain the persistent monocytosis. MONDO:0006311 +MONDO:0957707 myelodysplastic/myeloproliferative neoplasm with sf3b1 mutation and thrombocytosis NCIT:C198581 MONDO:equivalentTo Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis A myelodysplastic/myeloproliferative neoplasm characterized by thrombocytosis, anemia, blasts less than 5% in bone marrow and less than 1% in peripheral blood, presence of SF3B1 gene mutation, absence of BCR/ABL fusion, absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, and no history of other myelodysplastic/myeloproliferative neoplasms or myeloproliferative neoplasms and myelodysplastic syndromes. MONDO:0006311 +MONDO:0957708 clonal cytopenia with monocytosis of undetermined significance NCIT:C198582 MONDO:equivalentTo Clonal Cytopenia with Monocytosis of Undetermined Significance A myelodysplastic/myeloproliferative neoplasm that fulfills the diagnostic criteria of clonal monocytosis of undetermined significance and is associated with cytopenia. MONDO:0006311 +MONDO:0957709 myeloid neoplasm with mutated tp53 NCIT:C198593 MONDO:equivalentTo Myeloid Neoplasm with Mutated TP53 Myeloid neoplasm characterized by the presence of TP53 gene mutations. This category includes myelodysplastic syndrome, myelodysplastic syndrome/acute myeloid leukemia, and acute myeloid leukemia with mutated TP53. MONDO:0005170 +MONDO:0957710 myelodysplastic syndrome/acute myeloid leukemia, not otherwise specified NCIT:C198597 MONDO:equivalentTo Myelodysplastic Syndrome/Acute Myeloid Leukemia, Not Otherwise Specified Myelodysplastic syndrome/acute myeloid leukemia in which there is no information on myelodysplasia-related gene mutations and cytogenetic abnormalities. MONDO:0015041 +MONDO:0957711 pediatric and/or germline mutation-associated myeloid disorders NCIT:C198663 MONDO:equivalentTo Pediatric and/or Germline Mutation-Associated Myeloid Disorders A group of myeloid disorders that occur in childhood and/or are associated with germline gene mutations. It includes juvenile myelomonocytic leukemia, juvenile myelomonocytic leukemia-like neoplasm, refractory cytopenia of childhood, Noonan syndrome-associated myeloproliferative disorder, and myeloid neoplasm with germline predisposition. MONDO:0005170 +MONDO:0957712 b acute lymphoblastic leukemia with germline predisposition NCIT:C198683 MONDO:equivalentTo B Acute Lymphoblastic Leukemia with Germline Predisposition B-acute lymphoblastic leukemia that results from germline gene mutations. This category includes B-acute lymphoblastic leukemia with germline PAX5 mutation and B-acute lymphoblastic leukemia with germline IKZF1 mutation. MONDO:0020511 +MONDO:0957713 acute myeloid leukemia with stat3-rara NCIT:C198827 MONDO:equivalentTo Acute Myeloid Leukemia with STAT3-RARA Acute myeloid leukemia with variant RARA rearrangement and expression of STAT3-RARA fusion protein. MONDO:0100375 +MONDO:0957714 acute myeloid leukemia with t(1;17)(q42.3;q21.2); irf2bp2-rara NCIT:C198831 MONDO:equivalentTo Acute Myeloid Leukemia with t(1;17)(q42.3;q21.2); IRF2BP2-RARA Acute myeloid leukemia with variant RARA rearrangement associated with t(1;17)(q42.3;q21.2) resulting in IRF2BP2-RARA fusion protein expression. MONDO:0100375 +MONDO:0957715 acute myeloid leukemia with tbl1xr1-rara NCIT:C198834 MONDO:equivalentTo Acute Myeloid Leukemia with TBL1XR1-RARA Acute myeloid leukemia with variant RARA rearrangement and expression of TBL1XR1-RARA fusion protein. MONDO:0100375 +MONDO:0957716 acute myeloid leukemia with fip1l1-rara NCIT:C198839 MONDO:equivalentTo Acute Myeloid Leukemia with FIP1L1-RARA Acute myeloid leukemia with variant RARA rearrangement and expression of FIP1L1-RARA fusion protein. MONDO:0100375 +MONDO:0957717 acute myeloid leukemia with bcor-rara NCIT:C198841 MONDO:equivalentTo Acute Myeloid Leukemia with BCOR-RARA Acute myeloid leukemia with variant RARA rearrangement and expression of BCOR-RARA fusion protein. MONDO:0100375 +MONDO:0957718 acute myeloid leukemia with in-frame bzip cebpa mutation NCIT:C198891 MONDO:equivalentTo Acute Myeloid Leukemia with In-Frame bZIP CEBPA Mutation An acute myeloid leukemia characterized by the presence of CEBPA bZIP domain mutation. It is associated with a favorable clinical outcome. MONDO:0017894 +MONDO:0957719 acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities NCIT:C198957 MONDO:equivalentTo Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities A group of acute myeloid leukemias classified based on specific karyotype findings. MONDO:0100409 +MONDO:0957720 low grade endometrioid adenocarcinoma NCIT:C199146 MONDO:equivalentTo Low Grade Endometrioid Adenocarcinoma Endometrioid adenocarcinoma exhibiting 50% or less solid non-glandular, non-squamous growth. MONDO:0005026 +MONDO:0957721 high grade endometrioid adenocarcinoma NCIT:C199149 MONDO:equivalentTo High Grade Endometrioid Adenocarcinoma Endometrioid adenocarcinoma exhibiting more than 50% solid non-glandular, non-squamous growth. MONDO:0005026 +MONDO:0957722 early t precursor lymphoblastic leukemia/lymphoma NCIT:C199170 MONDO:equivalentTo Early T Precursor Lymphoblastic Leukemia/Lymphoma T lymphoblastic leukemia/lymphoma in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. MONDO:0003537 +MONDO:0957724 early t precursor acute lymphoblastic leukemia, not otherwise specified NCIT:C199172 MONDO:equivalentTo Early T Precursor Acute Lymphoblastic Leukemia, Not Otherwise Specified Early T precursor acute lymphoblastic leukemia in which further genetic/molecular characterization is not available. MONDO:0100291 +MONDO:0957725 t lymphoblastic leukemia/lymphoma, not otherwise specified NCIT:C199173 MONDO:equivalentTo T Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified T-lymphoblastic leukemia/lymphoma in which further genetic/molecular characterization is not available. MONDO:0003537 +MONDO:0957726 b acute lymphoblastic leukemia with recurrent genetic abnormalities NCIT:C199202 MONDO:equivalentTo B Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities B-acute lymphoblastic leukemias characterized by the presence of recurring cytogenetic and/or molecular abnormalities. MONDO:0020511|MONDO:0035605 +MONDO:0957727 b lymphoblastic leukemia/lymphoma with myc rearrangement NCIT:C199231 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with MYC Rearrangement B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. The prognosis is poor. MONDO:0035605 +MONDO:0957728 primary cold agglutinin disease NCIT:C199387 MONDO:equivalentTo Primary Cold Agglutinin Disease A clonal B-cell lymphoproliferative disease of the bone marrow that results in autoimmune hemolytic anemia. It is distinct from lymphoplasmacytic lymphoma and IgM monoclonal gammopathy of undetermined significance. It lacks MYD88 gene mutation and is associated with trisomies of chromosomes 3, 12, and 18, and mutations in KMT2D and CARD11 genes. MONDO:0004949 +MONDO:0957729 multiple myeloma with recurrent genetic abnormalities NCIT:C199392 MONDO:equivalentTo Multiple Myeloma with Recurrent Genetic Abnormalities Multiple myelomas characterized by the presence of recurring cytogenetic abnormalities. MONDO:0009693 +MONDO:0957730 multiple myeloma, not otherwise specified NCIT:C199418 MONDO:equivalentTo Multiple Myeloma, Not Otherwise Specified Multiple myelomas characterized by the absence of recurrent genetic abnormalities. MONDO:0009693 +MONDO:0957731 heavy chain class-switched primary cutaneous marginal zone lymphoproliferative disorder NCIT:C199457 MONDO:equivalentTo Heavy Chain Class-Switched Primary Cutaneous Marginal Zone Lymphoproliferative Disorder A primary cutaneous marginal zone lymphoproliferative disorder characterized by class-switched immunoglobulin heavy chain expression. The majority of cases are IgG-positive. MONDO:0015813 +MONDO:0957732 igm-positive primary cutaneous marginal zone lymphoproliferative disorder NCIT:C199460 MONDO:equivalentTo IgM-Positive Primary Cutaneous Marginal Zone Lymphoproliferative Disorder A primary cutaneous marginal zone lymphoproliferative disorder characterized by expression of IgM and absence of class-switched immunoglobulin heavy chain expression. MONDO:0015813 +MONDO:0957733 bcl2-r-negative, cd23-positive follicle center lymphoma NCIT:C199467 MONDO:equivalentTo BCL2-R-Negative, CD23-Positive Follicle Center Lymphoma Follicular lymphoma characterized by the absence of BCL2 rearrangement and the presence of CD23-positive neoplastic cells. It is associated with STAT6 mutations. It presents with low-stage disease, typically in the inguinal region, and often has a predominant diffuse growth pattern. MONDO:0018906 +MONDO:0957734 cyclin d1-positive mantle cell lymphoma NCIT:C199481 MONDO:equivalentTo Cyclin D1-Positive Mantle Cell Lymphoma A molecular subtype of mantle cell lymphoma characterized by the presence of cyclin D1 expression and/or CCND1 rearrangement.. MONDO:0018876 +MONDO:0957735 hhv-8 and ebv-negative primary effusion-based lymphoma NCIT:C199576 MONDO:equivalentTo HHV-8 and EBV-Negative Primary Effusion-Based Lymphoma An HHV-8 and EBV-negative primary effusion-based lymphoma that affects elderly, HIV-negative patients with history of medical conditions that result in fluid overload. The majority of cases have been reported in Japan. Most tumors exhibit centroblastic or immunoblastic morphology. The prognosis is good. MONDO:0018905 +MONDO:0957736 classic hydroa vacciniforme lymphoproliferative disorder NCIT:C199676 MONDO:equivalentTo Classic Hydroa Vacciniforme Lymphoproliferative Disorder Hydroa vacciniforme lymphoproliferative disorder characterized by the presence of self-limited papulovesicular skin lesions in sun-exposed areas. There is no involvement of internal organs. It has an indolent course and usually affects White individuals. MONDO:0018224 +MONDO:0957737 systemic hydroa vacciniforme lymphoproliferative disorder NCIT:C199677 MONDO:equivalentTo Systemic Hydroa Vacciniforme Lymphoproliferative Disorder Hydroa vacciniforme lymphoproliferative disorder characterized by severe clinical course and associated with fever, lymph node involvement, and involvement of internal organs by EBV-positive T-cells and NK-cells. It usually affects Asian and Latin American individuals. MONDO:0018224 +MONDO:0957738 indolent nk-cell lymphoproliferative disorder of the gastrointestinal tract NCIT:C200037 MONDO:equivalentTo Indolent NK-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract An indolent lymphoproliferative disorder that affects the gastrointestinal tract. The neoplastic lymphocytes have the typical phenotype of NK-cells, are of medium to large size, show mild pleomorphism, and are EBV infection negative. Features that characterize extranodal NK/T-cell lymphomas (e.g., angioinvasion and angiodestruction) are not present. MONDO:0005169 +MONDO:0957739 peripheral t-cell lymphoma-gata3 NCIT:C200073 MONDO:equivalentTo Peripheral T-Cell Lymphoma-GATA3 A molecular subtype of peripheral T-cell lymphoma, not otherwise specified, characterized by high expression of GATA3. It is composed of a monomorphic lymphocytic infiltrate with minimal inflammation and is associated with a poor prognosis. MONDO:0004964 +MONDO:0957740 peripheral t-cell lymphoma-tbx21 NCIT:C200074 MONDO:equivalentTo Peripheral T-Cell Lymphoma-TBX21 A molecular subtype of peripheral T-cell lymphoma, not otherwise specified, characterized by high expression of T-box 21 (TBX21). It is composed of a polymorphic lymphocytic infiltrate admixed with abundant inflammatory cells and is associated with a better prognosis compared to peripheral T-cell lymphoma-GATA3. MONDO:0004964 +MONDO:0957741 alk-positive histiocytosis NCIT:C200105 MONDO:equivalentTo ALK-Positive Histiocytosis A rare histiocytic neoplasm associated with ALK gene rearrangement leading to activation of signaling pathways. The neoplastic cells have a mature histiocytic phenotype, and usually have a foamy cytoplasm. It is characterized by frequent neurologic involvement and responds to ALK inhibition treatments. MONDO:0006247 +MONDO:0957742 vulvar tubulovillous adenoma NCIT:C200207 MONDO:equivalentTo Vulvar Tubulovillous Adenoma An intestinal-type adenoma that arises from the vulva. It is characterized by the presence of a tubulovillous architectural pattern. MONDO:0002198|MONDO:0000643 +MONDO:0957743 pancreatic cystic neoplasm NCIT:C200227 MONDO:equivalentTo Pancreatic Cystic Neoplasm A benign, borderline, or malignant cystic neoplasm that arises from the exocrine pancreas. This category includes pancreatic mucinous-cystic neoplasms, pancreatic cystadenomas, and pancreatic cystadenocarcinomas. MONDO:0021077|MONDO:0021076 +MONDO:0957744 myelodysplastic syndrome with low blasts NCIT:C200389 MONDO:equivalentTo Myelodysplastic Syndrome with Low Blasts Myelodysplastic syndrome characterized by the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood. MONDO:0018881 +MONDO:0957745 myelodysplastic syndrome with genetic abnormalities NCIT:C200390 MONDO:equivalentTo Myelodysplastic Syndrome with Genetic Abnormalities Myelodysplastic syndrome characterized by the presence of defining genetic abnormalities. MONDO:0018881 +MONDO:0957746 myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related gene mutations NCIT:C200400 MONDO:equivalentTo Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations Myelodysplastic syndromes/acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia. MONDO:0015041 +MONDO:0957747 myelodysplastic syndrome/acute myeloid leukemia with myelodysplasia-related cytogenetic abnormalities NCIT:C200402 MONDO:equivalentTo Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities Myelodysplastic syndromes/acute myeloid leukemias classified based on specific karyotype findings. MONDO:0015041 +MONDO:0957748 acute myeloid leukemia with mecom rearrangement NCIT:C200407 MONDO:equivalentTo Acute Myeloid Leukemia with MECOM Rearrangement Acute myeloid leukemia characterized by rearrangement of the MECOM gene with various genes. MONDO:0020078 +MONDO:0957749 acute myeloid leukemia with nup98 rearrangement NCIT:C200411 MONDO:equivalentTo Acute Myeloid Leukemia with NUP98 Rearrangement Acute myeloid leukemia characterized by rearrangement of the NUP98 gene with various genes. MONDO:0020078 +MONDO:0957750 acute myeloid leukemia with fus-erg NCIT:C200419 MONDO:equivalentTo Acute Myeloid Leukemia with FUS-ERG Acute myeloid leukemia associated with FUS-ERG gene fusion. The prognosis is poor. MONDO:0020078 +MONDO:0957751 acute myeloid leukemia with npm1-mlf1 NCIT:C200420 MONDO:equivalentTo Acute Myeloid Leukemia with NPM1-MLF1 Acute myeloid leukemia associated with NPM1-MLF1 gene fusion. MONDO:0020078 +MONDO:0957752 acute myeloid leukemia with kat6a-crebbp NCIT:C200421 MONDO:equivalentTo Acute Myeloid Leukemia with KAT6A-CREBBP Acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. MONDO:0020078 +MONDO:0957753 acute leukemia of ambiguous lineage with defining genetic abnormalities NCIT:C200494 MONDO:equivalentTo Acute Leukemia of Ambiguous Lineage with Defining Genetic Abnormalities Acute leukemia of ambiguous lineage characterized by the presence of defined genetic alterations. MONDO:0019460 +MONDO:0957754 mature plasmacytoid dendritic cell proliferation associated with myeloid neoplasm NCIT:C200513 MONDO:equivalentTo Mature Plasmacytoid Dendritic Cell Proliferation Associated with Myeloid Neoplasm A clonal proliferation of plasmacytoid dendritic cells in patients with defined myeloid neoplasms. It is characterized by neoplastic proliferations of mature cells with plasmacytoid morphology in the skin, bone marrow, and very rarely, lymph nodes. Patients are predominantly older males. MONDO:0006247 +MONDO:0957755 b lymphoblastic leukemia/lymphoma with tcf3-hlf rearrangement NCIT:C200587 MONDO:equivalentTo B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement An exceptionally rare childhood B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement resulting in the formation of TCF3-HLF chimeric transcription factor. The prognosis is poor. MONDO:0035605 +MONDO:0957756 atypical teratoid/rhabdoid tumor molecular subtypes NCIT:C200597 MONDO:equivalentTo Atypical Teratoid/Rhabdoid Tumor Molecular Subtypes A term that refers to the classification of atypical teratoid/rhabdoid tumors according to their molecular characteristics. MONDO:0020560 +MONDO:0957757 classic follicular lymphoma NCIT:C200669 MONDO:equivalentTo Classic Follicular Lymphoma A term that refers to follicular lymphoma grade 1, 2, and 3A. MONDO:0018906 +MONDO:0957758 follicular lymphoma with unusual cytological features NCIT:C200684 MONDO:equivalentTo Follicular Lymphoma with Unusual Cytological Features An uncommon morphologic variant of follicular lymphoma characterized by the presence of predominantly medium-sized neoplastic lymphocytes with blastoid features or large neoplastic lymphocytes with cleaved nuclei. MONDO:0018906 +MONDO:0957759 cyclin d1-negative mantle cell lymphoma NCIT:C200685 MONDO:equivalentTo Cyclin D1-Negative Mantle Cell Lymphoma A molecular subtype of mantle cell lymphoma characterized by the absence of cyclin D1 expression and CCND1 rearrangement. MONDO:0018876 +MONDO:0957760 primary large b-cell lymphoma of immune-privileged site NCIT:C200687 MONDO:equivalentTo Primary Large B-Cell Lymphoma of Immune-Privileged Site A term that refers to diffuse large B-cell lymphomas that arise as primary tumors in the central nervous system, vitreoretina, and testis in immunocompetent patients. MONDO:0018905 +MONDO:0957761 ebv-negative burkitt lymphoma NCIT:C200688 MONDO:equivalentTo EBV-Negative Burkitt Lymphoma Burkitt lymphoma that is not associated with Epstein-Barr virus infection. MONDO:0007243 +MONDO:0957762 plasma cell neoplasm with associated paraneoplastic syndrome NCIT:C200738 MONDO:equivalentTo Plasma Cell Neoplasm with Associated Paraneoplastic Syndrome A term that refers to rare paraneoplastic syndromes associated with plasma cell neoplasms. This category includes the following: POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes); TEMPI syndrome (telangiectasia, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collection, and intrapulmonary shunting); and AESOP syndrome (adenopathy and extensive skin patch overlying a plasmacytoma). MONDO:0004959 +MONDO:0957763 who grade 4 glioma NCIT:C200758 MONDO:equivalentTo WHO Grade 4 Glioma A group of malignant gliomas that includes the following: glioblastoma; diffuse midline glioma; diffuse hemispheric glioma, H3 G34-mutant; astrocytoma, IDH-mutant, grade 4; and diffuse pediatric-type high grade glioma, H3-wildtype and IDH-wildtype. MONDO:0100342 +MONDO:0957764 primary cutaneous peripheral t-cell lymphoma, not otherwise specified NCIT:C201080 MONDO:equivalentTo Primary Cutaneous Peripheral T-Cell Lymphoma, Not Otherwise Specified An exceedingly rare peripheral T-cell lymphoma that arises from the skin and does not meet the criteria that define the other well characterized primary cutaneous peripheral T-cell lymphomas, i.e., it is a diagnosis of exclusion. MONDO:0000607 +MONDO:0957765 cribriform comedo-type adenocarcinoma NCIT:C201124 MONDO:equivalentTo Cribriform Comedo-Type Adenocarcinoma An adenocarcinoma characterized by the presence of malignant cribriform glands with central necrotic changes. MONDO:0003575|MONDO:0006176 +MONDO:0957766 aleukemic myeloid leukemia NCIT:C201127 MONDO:equivalentTo Aleukemic Myeloid leukemia Myeloid leukemia presenting with leukemic infiltration of tissues and normal or decreased leukocyte count in the peripheral blood. MONDO:0003730|MONDO:0004643 +MONDO:0957767 solid pseudopapillary neoplasm NCIT:C201136 MONDO:equivalentTo Solid Pseudopapillary Neoplasm A low-grade malignant neoplasm that arises from the exocrine pancreas. Rare cases arising from ectopic pancreatic tissue in the ovary have also been described. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. It usually presents as an encapsulated, solitary, and lobulated mass. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases. MONDO:0004992 +MONDO:0957768 endemic burkitt lymphoma NCIT:C27122 MONDO:equivalentTo Endemic Burkitt Lymphoma A clinical variant of Burkitt lymphoma that occurs in equatorial Africa. The Epstein-Barr virus has been detected in all patients. It is the most common malignancy of childhood in this area. MONDO:0007243 +MONDO:0957769 multicystic mesothelioma NCIT:C3765 MONDO:equivalentTo Multicystic Mesothelioma A mesothelial neoplasm that arises from the peritoneum and rarely the pleura. It is characterized by the presence of multiple cysts lined by flattened or cuboidal mesothelial cells. There is no evidence of significant cytologic atypia or increased mitotic activity. It may reoccur. Rare cases of transformation to malignant mesothelioma have been reported. MONDO:0006856|MONDO:0021077 +MONDO:0957770 low grade myofibroblastic sarcoma NCIT:C49024 MONDO:equivalentTo Low Grade Myofibroblastic Sarcoma A low-grade malignant neoplasm arising from the soft tissue and rarely bone. It is characterized by the presence of spindle-shaped myofibroblasts and collagenous stroma formation in a storiform growth pattern. Metastasis is very rare. MONDO:0005164 +MONDO:0957771 sclerosing epithelioid fibrosarcoma NCIT:C49027 MONDO:equivalentTo Sclerosing Epithelioid Fibrosarcoma A well-circumscribed malignant fibroblastic neoplasm that usually arises from the soft tissue. It is characterized by the presence of nests of malignant epithelioid fibroblasts and sclerotic collagen stroma formation. MONDO:0005164 +MONDO:0957772 meningothelial cell neoplasm NCIT:C6971 MONDO:equivalentTo Meningothelial Cell Neoplasm A neoplasm that arises from meningothelial cells. This category refers to meningiomas. MONDO:0002616 +MONDO:0957773 type a lymphomatoid papulosis NCIT:C7197 MONDO:equivalentTo Type A Lymphomatoid Papulosis A variant of lymphomatoid papulosis characterized by the presence of scattered anaplastic large lymphocytes, often resembling Reed-Sternberg cells, admixed with acute and chronic inflammatory cells. MONDO:0020326 +MONDO:0957774 type c lymphomatoid papulosis NCIT:C7199 MONDO:equivalentTo Type C Lymphomatoid Papulosis A variant of lymphomatoid papulosis characterized clinically by regressing skin papules, and morphologically by features resembling anaplastic large cell lymphoma. MONDO:0020326 +MONDO:0957775 pancreatic intraductal papillary mucinous neoplasm, oncocytic-type NCIT:C95514 MONDO:equivalentTo Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells with abundant eosinophilic granular cytoplasm. MONDO:0004286|MONDO:0010795 +MONDO:0957850 post-essential thrombocythemia myelofibrosis NCIT:C126806 MONDO:equivalentTo Post-Essential Thrombocythemia Myelofibrosis Myelofibrosis that develops in a patient with history of essential thrombocythemia. MONDO:0005029 +MONDO:0957851 recurrent myelofibrosis NCIT:C162424 MONDO:equivalentTo Recurrent Myelofibrosis The reemergence of myelofibrosis after a period of remission. +MONDO:0957852 refractory myelofibrosis NCIT:C162425 MONDO:equivalentTo Refractory Myelofibrosis Myelofibrosis that is resistant to treatment. +MONDO:0957853 bone rosai-dorfman-destombes disease NCIT:C178613 MONDO:equivalentTo Bone Rosai-Dorfman-Destombes Disease Rosai-Dorfman-Destombes disease affecting the bone. MONDO:0019060|MONDO:0006412 +MONDO:0957854 stage m0 medulloblastoma NCIT:C186521 MONDO:equivalentTo Stage M0 Medulloblastoma No evidence of subarachnoid or hematogenous metastasis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0007959 +MONDO:0957855 stage m1 medulloblastoma NCIT:C186522 MONDO:equivalentTo Stage M1 Medulloblastoma Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0007959 +MONDO:0957856 stage m2 medulloblastoma NCIT:C186523 MONDO:equivalentTo Stage M2 Medulloblastoma Gross nodular seeding is detected in the cerebellar/cerebral subarachnoid space or in the third or lateral ventricles. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0007959 +MONDO:0957857 stage m3 medulloblastoma NCIT:C186524 MONDO:equivalentTo Stage M3 Medulloblastoma Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0007959 +MONDO:0957858 stage m4 medulloblastoma NCIT:C186525 MONDO:equivalentTo Stage M4 Medulloblastoma Metastasis outside the cerebrospinal axis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0007959 +MONDO:0957859 stage m0 atypical teratoid/rhabdoid tumor NCIT:C186528 MONDO:equivalentTo Stage M0 Atypical Teratoid/Rhabdoid Tumor No evidence of subarachnoid or hematogenous metastasis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0020560 +MONDO:0957860 stage m1 atypical teratoid/rhabdoid tumor NCIT:C186529 MONDO:equivalentTo Stage M1 Atypical Teratoid/Rhabdoid Tumor Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0020560 +MONDO:0957861 stage m2 atypical teratoid/rhabdoid tumor NCIT:C186530 MONDO:equivalentTo Stage M2 Atypical Teratoid/Rhabdoid Tumor Gross nodular seeding is detected in the cerebellar/cerebral subarachnoid space or in the third or lateral ventricles. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0020560 +MONDO:0957862 stage m3 atypical teratoid/rhabdoid tumor NCIT:C186531 MONDO:equivalentTo Stage M3 Atypical Teratoid/Rhabdoid Tumor Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0020560 +MONDO:0957863 stage m4 atypical teratoid/rhabdoid tumor NCIT:C186532 MONDO:equivalentTo Stage M4 Atypical Teratoid/Rhabdoid Tumor Metastasis outside the cerebrospinal axis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0020560 +MONDO:0957864 stage m0 pineoblastoma NCIT:C186568 MONDO:equivalentTo Stage M0 Pineoblastoma No evidence of subarachnoid or hematogenous metastasis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0016722 +MONDO:0957865 stage m1 pineoblastoma NCIT:C186569 MONDO:equivalentTo Stage M1 Pineoblastoma Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0016722 +MONDO:0957866 stage m2 pineoblastoma NCIT:C186570 MONDO:equivalentTo Stage M2 Pineoblastoma Gross nodular seeding is detected in the cerebellar/cerebral subarachnoid space or in the third or lateral ventricles. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0016722 +MONDO:0957867 stage m3 pineoblastoma NCIT:C186571 MONDO:equivalentTo Stage M3 Pineoblastoma Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0016722 +MONDO:0957868 stage m4 pineoblastoma NCIT:C186572 MONDO:equivalentTo Stage M4 Pineoblastoma Metastasis outside the cerebrospinal axis. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.) MONDO:0016722 +MONDO:0958220 colorectal perineurioma NCIT:C96513 MONDO:equivalentTo Colorectal Perineurioma A perineurioma that arises from the colon or rectum. It usually presents as a small sessile polyp. MONDO:0015031|MONDO:0021444 +MONDO:0970840 platinum-resistant primary peritoneal carcinoma NCIT:C157622 MONDO:equivalentTo Platinum-Resistant Primary Peritoneal Carcinoma Primary peritoneal carcinoma that progresses between one and six months of completing platinum therapy. MONDO:0015686 +MONDO:0970841 platinum-resistant malignant female reproductive system neoplasm NCIT:C169021 MONDO:equivalentTo Platinum-Resistant Malignant Female Reproductive System Neoplasm A malignant female reproductive system neoplasm that progresses between one and six months of completing platinum therapy. MONDO:0001416 +MONDO:0970842 extracutaneous merkel cell carcinoma NCIT:C173586 MONDO:equivalentTo Extracutaneous Merkel Cell Carcinoma A rare Merkel cell carcinoma that arises from extracutaneous sites, including the oral cavity, salivary glands, breast, vulva, and vaginal wall. MONDO:0019210 +MONDO:0970843 non-neoplastic tonsillar disorder NCIT:C173798 MONDO:equivalentTo Non-Neoplastic Tonsillar Disorder A non-neoplastic disorder that affects the tonsils. +MONDO:0970844 swi/snf complex-deficient sinonasal carcinoma NCIT:C201634 MONDO:equivalentTo SWI/SNF Complex-Deficient Sinonasal Carcinoma A highly aggressive, poorly to undifferentiated carcinoma that arises from the sinonasal tract. It is characterized by loss of one SWI/SNF complex subunit (either SMARCB1 or SMARCA4) and lacks histological features to allow classification into another specific entity. Most patients present with locally advanced disease. MONDO:0056819 +MONDO:0970845 tracheal verrucous carcinoma NCIT:C201742 MONDO:equivalentTo Tracheal Verrucous Carcinoma An exophytic, warty, well differentiated, slow growing and non-metastasizing squamous cell carcinoma arising from the trachea. MONDO:0001419|MONDO:0006006 +MONDO:0970846 hypopharyngeal verrucous carcinoma NCIT:C201743 MONDO:equivalentTo Hypopharyngeal Verrucous Carcinoma An exophytic, warty, well differentiated, slow growing and non-metastasizing squamous cell carcinoma arising from the hypopharynx. MONDO:0044638|MONDO:0006006 +MONDO:0970847 hypopharyngeal papillary squamous cell carcinoma NCIT:C201748 MONDO:equivalentTo Hypopharyngeal Papillary Squamous Cell Carcinoma A variant of squamous cell carcinoma that arises from the hypopharynx. It is characterized by exophytic and papillary growth. The papillae are covered by a malignant stratified squamous epithelium. MONDO:0002979|MONDO:0044638 +MONDO:0970848 hypopharyngeal spindle cell squamous carcinoma NCIT:C201749 MONDO:equivalentTo Hypopharyngeal Spindle Cell Squamous Carcinoma A squamous cell carcinoma that arises from the hypopharynx. It is characterized by the presence of a malignant spindle cell cellular component. In some cases, there is a biphasic morphology due to the presence of a well-differentiated squamous cell carcinoma component. The latter is either in situ or invasive squamous cell carcinoma. MONDO:0044638|MONDO:0021663 +MONDO:0970849 parotid gland keratocystoma NCIT:C201770 MONDO:equivalentTo Parotid Gland Keratocystoma A benign neoplasm that arises from the parotid gland. It is characterized by the presence of multicystic formations, lined by neoplastic stratified squamous epithelium and containing keratotic lamellae. The neoplastic squamous epithelial cells have bland nuclei and abundant eosinophilic cytoplasm. Focally, solid islands of squamous cells surrounded by collagenous stroma are present. MONDO:0021460 +MONDO:0970850 hyalinizing clear cell carcinoma NCIT:C201821 MONDO:equivalentTo Hyalinizing Clear Cell Carcinoma A rare, slow-growing carcinoma characterized by the presence of malignant clear and eosinophilic cells in a hyalinized stroma. It has been described in the salivary glands and lung. Most cases are associated with translocation of EWSR1 and ATF1, resulting in the formation of EWSR1-ATF1 fusion gene. The prognosis is good. MONDO:0004993 +MONDO:0970851 tongue verrucous carcinoma NCIT:C201878 MONDO:equivalentTo Tongue Verrucous Carcinoma A well differentiated squamous cell carcinoma arising from the tongue. It is an exophytic, warty, slow growing tumor, usually affecting older males. It is associated with the chronic use of smokeless tobacco. MONDO:0021538|MONDO:0000500 +MONDO:0970852 palatine tonsil hamartomatous polyp NCIT:C201900 MONDO:equivalentTo Palatine Tonsil Hamartomatous Polyp A rare hamartomatous polyp that arises from the palatine tonsil. +MONDO:0970853 transformed chronic lymphocytic leukemia to hodgkin lymphoma NCIT:C201960 MONDO:equivalentTo Transformed Chronic Lymphocytic Leukemia to Hodgkin Lymphoma Histologic transformation of chronic lymphocytic leukemia to Hodgkin lymphoma. MONDO:0004948 +MONDO:0970854 pineoblastoma molecular subtypes NCIT:C201966 MONDO:equivalentTo Pineoblastoma Molecular Subtypes A term that refers to the classification of pineoblastomas according to their molecular characteristics. MONDO:0016722 +MONDO:0970855 spinal cord pilocytic astrocytoma NCIT:C201976 MONDO:equivalentTo Spinal Cord Pilocytic Astrocytoma Pilocytic astrocytoma that arises from the spinal cord. MONDO:0003174|MONDO:0016691 +MONDO:0970856 brain low grade glioma NCIT:C201977 MONDO:equivalentTo Brain Low Grade Glioma A low-grade glioma that arises from the brain. MONDO:0021632|MONDO:0021637 +MONDO:0970857 clear cell calcifying epithelial odontogenic tumor NCIT:C202057 MONDO:equivalentTo Clear Cell Calcifying Epithelial Odontogenic Tumor A calcifying epithelial odontogenic tumor that contains a variable proportion of clear cells containing diastase-labile PAS-positive material that is consistent with glycogen. MONDO:0022057 +MONDO:0970858 cystic/microcystic calcifying epithelial odontogenic tumor NCIT:C202058 MONDO:equivalentTo Cystic/Microcystic Calcifying Epithelial Odontogenic Tumor A calcifying epithelial odontogenic tumor characterized by cystic/microcystic changes. MONDO:0022057 +MONDO:0970859 non-calcifying/langerhans cell-rich calcifying epithelial odontogenic tumor NCIT:C202059 MONDO:equivalentTo Non-Calcifying/Langerhans Cell-Rich Calcifying Epithelial Odontogenic Tumor A calcifying epithelial odontogenic tumor that contains significant numbers of Langerhans cells. MONDO:0022057 +MONDO:0970860 adenoid ameloblastoma NCIT:C202061 MONDO:equivalentTo Adenoid Ameloblastoma A rare ameloblastoma characterized by the presence of cribriform architecture and the formation of duct-like structures. Dentinoid is usually present. MONDO:0017795 +MONDO:0970861 egfr-positive lung non-small cell carcinoma NCIT:C202131 MONDO:equivalentTo EGFR-Positive Lung Non-Small Cell Carcinoma Lung non-small cell carcinoma that is associated with EGFR gene mutation. MONDO:0005233 +MONDO:0970862 juvenile trabecular ossifying fibroma NCIT:C202205 MONDO:equivalentTo Juvenile Trabecular Ossifying Fibroma A rare, benign fibro-osseous neoplasm that usually affects the jaws and predominantly arises in children and adolescents. It is characterized by prominent osteoid formation rimmed by osteoblasts in a fibrotic stroma. Patients usually present with painless jaw expansion that is associated with rapid growth and tooth displacement. Amplifications of MDM2 and RASAL1 genes have been detected in some cases. Recurrences have been reported in a minority of cases. MONDO:0002119 +MONDO:0970863 psammomatoid ossifying fibroma NCIT:C202209 MONDO:equivalentTo Psammomatoid Ossifying Fibroma A rare, benign fibro-osseous neoplasm that arises from the craniofacial skeleton. It is characterized by the presence of multiple ossicles resembling psammoma bodies in a hypercellular stroma. It usually affects individuals in their second to fourth decades. Recurrences following surgical excision have been reported in a minority of cases. MONDO:0002119 +MONDO:0970864 surface osteoma NCIT:C202252 MONDO:equivalentTo Surface Osteoma An osteoma that arises from the surface of the bone. MONDO:0005166 +MONDO:0970865 central osteoma NCIT:C202253 MONDO:equivalentTo Central Osteoma An osteoma that arises from the endosteum. MONDO:0005166 +MONDO:0970866 rhabdomyosarcoma with tfcp2 rearrangement NCIT:C202263 MONDO:equivalentTo Rhabdomyosarcoma with TFCP2 Rearrangement An aggressive, high-grade rhabdomyosarcoma characterized by TFCP2 rearrangement that results either in TFCP2-FUS or TFCP2-EWSR1 fusion gene formation. It affects young adults and arises from bone and less frequently soft tissue. It predominantly affects the craniofacial bones. Histologically, it usually shows a biphasic pattern with spindle and epithelioid cell areas. It is associated with poor prognosis. MONDO:0005212 +MONDO:0970867 non-clear cell renal cell carcinoma NCIT:C202497 MONDO:equivalentTo Non-Clear Cell Renal Cell Carcinoma A group of renal cell carcinomas characterized by the absence of lipid-containing clear adenocarcinoma cells. This category includes the following morphological subtypes: papillary renal cell carcinoma; sarcomatoid renal cell carcinoma; chromophobe renal cell carcinoma; tubulocystic renal cell carcinoma; and eosinophilic solid and cystic renal cell carcinoma. MONDO:0005549 +MONDO:0970868 middle ear papilloma NCIT:C202582 MONDO:equivalentTo Middle Ear Papilloma A rare papilloma that arises from the middle ear and resembles a sinonasal papilloma. Approximately half of the patients have concurrent sinonasal or nasopharyngeal papillomas. MONDO:0021078|MONDO:0021482 +MONDO:0970869 external auditory canal squamous cell carcinoma NCIT:C202594 MONDO:equivalentTo External Auditory Canal Squamous Cell Carcinoma A squamous cell carcinoma that arises from the keratinizing squamous epithelium that lines the external auditory canal. MONDO:0003501 +MONDO:0970870 orbit solitary fibrous tumor NCIT:C202620 MONDO:equivalentTo Orbit Solitary Fibrous Tumor A solitary fibrous tumor that arises from the orbit. Most of these tumors are benign. MONDO:0016238|MONDO:0024611 +MONDO:0970871 head and neck soft tissue neoplasm NCIT:C202623 MONDO:equivalentTo Head and Neck Soft Tissue Neoplasm A mesenchymal neoplasm that arises from the soft tissue of the head and neck. MONDO:0006424|MONDO:0005586 +MONDO:0970872 proximal colon carcinoma NCIT:C202633 MONDO:equivalentTo Proximal Colon Carcinoma A colon carcinoma that arises from cecum, ascending colon, or hepatic flexure. MONDO:0002032 +MONDO:0970873 distal colon carcinoma NCIT:C202634 MONDO:equivalentTo Distal Colon Carcinoma A colon carcinoma that arises from the splenic flexure, descending colon, or sigmoid colon. MONDO:0002032 +MONDO:0970874 oral cavity neurofibroma NCIT:C202860 MONDO:equivalentTo Oral Cavity Neurofibroma A neurofibroma that arises from the oral cavity. The tongue is the most frequently affected site. MONDO:0021445|MONDO:0016755 +MONDO:0970875 oral cavity schwannoma NCIT:C202876 MONDO:equivalentTo Oral Cavity Schwannoma A schwannoma that arises from the oral cavity. MONDO:0021445|MONDO:0004820 +MONDO:0970876 head and neck phosphaturic mesenchymal tumor NCIT:C202879 MONDO:equivalentTo Head and Neck Phosphaturic Mesenchymal Tumor A phosphaturic mesenchymal tumor that arises from the head and neck. It usually affects the paranasal sinuses. The head and neck region is the most frequently involved site for phosphaturic mesenchymal tumors, following the appendicular skeleton. MONDO:0006368|MONDO:0005586 +MONDO:0970877 appendicular skeleton phosphaturic mesenchymal tumor NCIT:C202880 MONDO:equivalentTo Appendicular Skeleton Phosphaturic Mesenchymal Tumor A phosphaturic mesenchymal tumor that arises from the appendicular skeleton. The appendicular skeleton is the most frequently involved site for phosphaturic mesenchymal tumors. MONDO:0019060|MONDO:0006368 +MONDO:0970878 poorly differentiated synovial sarcoma NCIT:C202883 MONDO:equivalentTo Poorly Differentiated Synovial Sarcoma A synovial sarcoma characterized by the presence of poorly differentiated morphological features and absence of spindle cells. MONDO:0010434 +MONDO:0970879 primary cd30-positive t-cell lymphoproliferative disorder NCIT:C202952 MONDO:equivalentTo Primary CD30-Positive T-Cell Lymphoproliferative Disorder A spectrum of T-cell lymphoproliferative disorders that arise from skin, subcutaneous tissue, and head and neck mucosal sites. They are characterized by the presence of CD30-positive neoplastic lymphocytes. Cells that resemble the hallmark cells of anaplastic large cell lymphoma are often seen. MONDO:0005169 +MONDO:0970880 head and neck hematopoietic and lymphoid cell neoplasm NCIT:C202954 MONDO:equivalentTo Head and Neck Hematopoietic and Lymphoid Cell Neoplasm A neoplasm of hematopoietic and lymphoid cell origin that affects the head and neck region. MONDO:0005586|MONDO:0044881 +MONDO:0970881 head and neck germ cell tumor NCIT:C202977 MONDO:equivalentTo Head and Neck Germ Cell Tumor An exceptionally rare benign or malignant germ cell tumor that arises from the head and neck region. It usually affects the sinonasal tract and nasopharynx. MONDO:0018201|MONDO:0005586 +MONDO:0970882 cecum neuroendocrine tumor NCIT:C203386 MONDO:equivalentTo Cecum Neuroendocrine Tumor A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the cecum. MONDO:0005694|MONDO:0015067 +MONDO:0970883 ascending colon neuroendocrine tumor NCIT:C203387 MONDO:equivalentTo Ascending Colon Neuroendocrine Tumor A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the ascending colon. MONDO:0015067 +MONDO:0970884 descending colon neuroendocrine tumor NCIT:C203388 MONDO:equivalentTo Descending Colon Neuroendocrine Tumor A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the descending colon. MONDO:0015067 +MONDO:0970885 sigmoid colon neuroendocrine tumor NCIT:C203389 MONDO:equivalentTo Sigmoid Colon Neuroendocrine Tumor A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the sigmoid colon. MONDO:0015067 +MONDO:0970886 transverse colon neuroendocrine tumor NCIT:C203390 MONDO:equivalentTo Transverse Colon Neuroendocrine Tumor A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the transverse colon. MONDO:0015067 +MONDO:0970887 histiocytic disorder NCIT:C203422 MONDO:equivalentTo Histiocytic Disorder A group of non-neoplastic and neoplastic disorders characterized by the proliferation of histiocytes. This category includes hemophagocytic lymphohistiocytosis and histiocytic and dendritic cell neoplasms. +MONDO:0970888 myelodysplastic chronic myelomonocytic leukemia NCIT:C203443 MONDO:equivalentTo Myelodysplastic Chronic Myelomonocytic Leukemia Chronic myelomonocytic leukemia characterized by the absence of a markedly elevated white blood cell count in the peripheral blood. MONDO:0020311 +MONDO:0970889 myeloproliferative chronic myelomonocytic leukemia NCIT:C203444 MONDO:equivalentTo Myeloproliferative Chronic Myelomonocytic Leukemia Chronic myelomonocytic leukemia characterized by the presence of a markedly elevated white blood cell count in the peripheral blood. MONDO:0020311 +MONDO:0970890 t acute lymphoblastic leukemia with recurrent genetic abnormalities NCIT:C203469 MONDO:equivalentTo T Acute Lymphoblastic Leukemia with Recurrent Genetic Abnormalities T-acute lymphoblastic leukemias characterized by the presence of recurring cytogenetic and/or molecular abnormalities. MONDO:0004963 +MONDO:0970891 esophageal and gastroesophageal junction carcinoma NCIT:C203673 MONDO:equivalentTo Esophageal and Gastroesophageal Junction Carcinoma A carcinoma that arises from the esophagus or gastroesophageal junction. MONDO:0006181 +MONDO:0970892 low grade mucinous carcinoma peritonei NCIT:C203946 MONDO:equivalentTo Low Grade Mucinous Carcinoma Peritonei A low-grade mucinous adenocarcinoma that has spread to the peritoneum. MONDO:0017048 +MONDO:0970893 high grade mucinous carcinoma peritonei NCIT:C203948 MONDO:equivalentTo High Grade Mucinous Carcinoma Peritonei A high-grade mucinous adenocarcinoma that has spread to the peritoneum. MONDO:0017048 +MONDO:0970894 merkel cell polyoma virus-positive merkel cell carcinoma NCIT:C204383 MONDO:equivalentTo Merkel Cell Polyoma Virus-Positive Merkel Cell Carcinoma A Merkel cell carcinoma that is associated with Merkel cell polyoma virus infection. MONDO:0019210 +MONDO:0970895 merkel cell polyoma virus-negative merkel cell carcinoma NCIT:C204385 MONDO:equivalentTo Merkel Cell Polyoma Virus-Negative Merkel Cell Carcinoma A Merkel cell carcinoma that is not associated with Merkel cell polyoma virus infection. MONDO:0019210 +MONDO:0970896 lentiginous melanocytic nevus NCIT:C204482 MONDO:equivalentTo Lentiginous Melanocytic Nevus A nevus characterized by an intraepidermal proliferation of nested melanocytes along the basal epidermis. MONDO:0044794 +MONDO:0970897 mitf pathway-activated melanocytic tumor NCIT:C204739 MONDO:equivalentTo MITF Pathway-Activated Melanocytic Tumor A cutaneous neoplasm associated with MITF gene rearrangement and either ACTIN-MITF translocation or MITF-CREM translocation. It is composed of large cells with clear cytoplasm that exhibit melanocytic differentiation and proliferate in the dermis. It presents as a single non-pigmented cutaneous nodule. MONDO:0021583 +MONDO:0970898 dermal spitz nevus NCIT:C204789 MONDO:equivalentTo Dermal Spitz Nevus A Spitz nevus characterized by the presence of an intradermal melanocytic component without junctional melanocytic activity. MONDO:0006813|MONDO:0044793 +MONDO:0970899 spitz tumor NCIT:C204790 MONDO:equivalentTo Spitz Tumor A term that refers to a group of melanocytic neoplasms that are composed of epithelioid and/or spindle cells and extend from the epidermis into the reticular dermis, often in a wedge-shaped configuration. They are usually associated with oncogenic mutations that activate the MAP-kinase pathway. This category includes Spitz nevus, Spitz melanocytoma, and Spitz melanoma. MONDO:0021583 +MONDO:0970900 melanoma in intermittently sun-exposed skin NCIT:C204840 MONDO:equivalentTo Melanoma in Intermittently Sun-Exposed Skin A melanoma that arises from the skin in the absence of severe actinic keratosis. It can arise from a pre-existing nevus or de novo. MONDO:0005012 +MONDO:0970901 low-csd melanoma, superficial spreading melanoma subtype NCIT:C204843 MONDO:equivalentTo Low-CSD Melanoma, Superficial Spreading Melanoma Subtype A cutaneous melanoma that develops on sun exposed sites with low cumulative sun damage (CSD). It is characterized by a prominent junctional and intraepidermal component with intraepidermal proliferation of individual atypical melanocytes and formation of nests of atypical melanocytes along the dermal-epidermal junction. The dermal component is composed of atypical melanocytes that fail to mature. The atypical melanocytes have large nuclei, prominent nucleoli, and eosinophilic or lightly pigmented cytoplasm. It is the most common melanoma subtype in the Western world. MONDO:0020638 +MONDO:0970902 melanoma in chronically sun-exposed skin NCIT:C204864 MONDO:equivalentTo Melanoma in Chronically Sun-Exposed Skin A melanoma that arises from a chronically sun-exposed skin area. It is associated with severe actinic keratosis. MONDO:0005012 +MONDO:0970903 mucosal nevus NCIT:C204907 MONDO:equivalentTo Mucosal Nevus A nevus that arises from a mucosal site. MONDO:0005073 +MONDO:0970904 dendritic blue nevus NCIT:C204910 MONDO:equivalentTo Dendritic Blue Nevus A blue nevus characterized by the proliferation of dendritic melanocytes in sclerotic stromal collagen. MONDO:0006680 +MONDO:0970905 intermediate congenital melanocytic nevus NCIT:C204976 MONDO:equivalentTo Intermediate Congenital Melanocytic Nevus A congenital melanocytic nevus measuring 15-200 mm. It is typically amenable to surgical resection. MONDO:0044792 +MONDO:0970906 conjunctival melanocytic neoplasm NCIT:C204977 MONDO:equivalentTo Conjunctival Melanocytic Neoplasm A melanocytic neoplasm that arises from the conjunctiva. This category includes conjunctival nevus, conjunctival melanocytic intraepithelial lesions, and conjunctival melanoma. MONDO:0021143|MONDO:0020204 +MONDO:0970907 uveal melanocytic neoplasm NCIT:C205057 MONDO:equivalentTo Uveal Melanocytic Neoplasm A melanocytic neoplasm that arises from the iris, ciliary body, and choroid. This category includes nevus and its subtype melanocytoma, and melanoma. MONDO:0021143|MONDO:0021225 +MONDO:0970908 nodular melanoma NCIT:C205125 MONDO:equivalentTo Nodular Melanoma A melanoma that arises from the skin and mucosal sites. It is characterized by a vertical growth phase and lacks a significant radial growth phase. It may or may not arise from a pre-existing nevus. Morphologically, it is characterized by the presence of cohesive aggregates of neoplastic melanocytes in the dermis that often exhibit an epithelioid appearance. The overlying epidermis is often involved. MONDO:0005105 +MONDO:0970909 dermal melanoma NCIT:C205129 MONDO:equivalentTo Dermal Melanoma A melanoma that is confined to the dermis and subcutaneous tissue without involvement of the epidermis. MONDO:0005012 +MONDO:0970910 metastatic melanoma in the lymph nodes NCIT:C205131 MONDO:equivalentTo Metastatic Melanoma in the Lymph Nodes A melanoma that has spread to the lymph nodes from a cutaneous or extracutaneous primary site. MONDO:0005191|MONDO:0005438 +MONDO:0970911 platinum-sensitive endometrial carcinoma NCIT:C205187 MONDO:equivalentTo Platinum-Sensitive Endometrial Carcinoma An endometrial carcinoma that has a documented response to platinum-based chemotherapy. MONDO:0002447 +MONDO:0970912 early stage cervical carcinoma NCIT:C205287 MONDO:equivalentTo Early Stage Cervical Carcinoma A stage term that refers to cervical carcinoma stages IA, IB, and IIA. MONDO:0005131 +MONDO:0970913 early stage clear cell renal cell carcinoma NCIT:C205289 MONDO:equivalentTo Early Stage Clear Cell Renal Cell Carcinoma A stage term referring to clear cell renal cell carcinoma that presents as a small tumor and is confined to the kidney. MONDO:0005005 +MONDO:0970914 early stage colorectal carcinoma NCIT:C205290 MONDO:equivalentTo Early Stage Colorectal Carcinoma A stage term referring to colorectal carcinoma that is limited to the colon/rectum or local lymph nodes, without metastasis to distant anatomic sites. MONDO:0024331 +MONDO:0970915 early stage endometrial carcinoma NCIT:C205295 MONDO:equivalentTo Early Stage Endometrial Carcinoma A stage term referring to endometrial carcinoma that is confined to the uterus. MONDO:0002447 +MONDO:0970916 early stage esophageal carcinoma NCIT:C205298 MONDO:equivalentTo Early Stage Esophageal Carcinoma A stage term referring to esophageal carcinoma that is confined to the esophageal mucosa or submucosa. MONDO:0019086 +MONDO:0970917 early stage hepatocellular carcinoma NCIT:C205301 MONDO:equivalentTo Early Stage Hepatocellular Carcinoma A stage term referring to hepatocellular carcinoma that presents as a single tumor with the largest diameter measuring 2 cm or less. The liver function is well-preserved and there is no vascular invasion or metastasis. (Barcelona Liver Cancer Classification). MONDO:0007256 +MONDO:0970918 early stage lung non-small cell carcinoma NCIT:C205303 MONDO:equivalentTo Early Stage Lung Non-Small Cell Carcinoma A stage term that refers to lung non-small cell carcinoma stages I, II, and IIIA. MONDO:0005233 +MONDO:0970919 early stage malignant skin neoplasm NCIT:C205307 MONDO:equivalentTo Early Stage Malignant Skin Neoplasm A stage term that refers to a malignant tumor confined to a limited area of the skin without lymph node or distant metastases. MONDO:0002898 +MONDO:0970920 primary cutaneous nut adnexal carcinoma NCIT:C205357 MONDO:equivalentTo Primary Cutaneous NUT Adnexal Carcinoma A very rare carcinoma that arises from adnexal structures in the skin. It is characterized by mutations and rearrangement of the NUT gene. It presents as a papular or nodular lesion and has been described in the hand, shoulder, trunk, and lower limb. Histologically, there is a proliferation of malignant epithelial cells in the dermis and/or subcutaneous tissue. The tumor cells display round nuclei with prominent single nucleoli. Features include the presence of small round ducts and foci of abrupt keratinization. MONDO:0005563|MONDO:0006973 +MONDO:0970921 trichogerminoma NCIT:C205371 MONDO:equivalentTo Trichogerminoma A rare subtype of trichoblastoma characterized by the presence of lobules of basaloid cells. The lobules are separated by fibrous stroma. It is associated with the expression of recurrent FOXK1/GRHL and GPS2/GRHL gene fusions. MONDO:0020593 +MONDO:0970922 apocrine cystadenoma NCIT:C205459 MONDO:equivalentTo Apocrine Cystadenoma A rare, benign cystic neoplasm that arises from the apocrine gland. It is characterized by the presence of papillary-like epithelial projections and more complex architectural patterns compared to apocrine hidrocystoma. MONDO:0002804|MONDO:0002369 +MONDO:0970923 eccrine poroma NCIT:C205462 MONDO:equivalentTo Eccrine Poroma A poroma with eccrine differentiation. MONDO:0006738|MONDO:0024247 +MONDO:0970924 hidroacanthoma simplex NCIT:C205475 MONDO:equivalentTo Hidroacanthoma Simplex A poroma characterized by the presence of aggregates of basaloid cells confined to the epidermis. MONDO:0006738 +MONDO:0970925 solid cystic hidradenoma NCIT:C205539 MONDO:equivalentTo Solid Cystic Hidradenoma A hidradenoma characterized by the presence of solid lobular neoplastic cell proliferations and cystic spaces filled with homogeneous eosinophilic material. MONDO:0002805 +MONDO:0970926 sialoblastoma NCIT:C35837 MONDO:equivalentTo Sialoblastoma A rare, malignant primitive neoplasm that occurs in the salivary glands. Most tumors arise from the parotid gland, followed by the submandibular gland, and rarely the minor salivary glands. It is usually diagnosed during the neonatal period and presents with painless face swelling. MONDO:0004669 +MONDO:0970927 cribriform trichoblastoma NCIT:C43322 MONDO:equivalentTo Cribriform Trichoblastoma A trichoblastoma characterized by the presence of neoplastic epithelial cells forming cribriform patterns. MONDO:0020593 +MONDO:0970928 lung neuroendocrine carcinoma NCIT:C45569 MONDO:equivalentTo Lung Neuroendocrine Carcinoma A high grade malignant neoplasm that arises from the lung and is characterized by the presence of malignant neuroendocrine cells. This category includes small cell lung carcinoma, large cell lung neuroendocrine carcinoma, and combined lung carcinoma. MONDO:0005454|MONDO:0005138|MONDO:0002120 +MONDO:0970929 branchioma NCIT:C53595 MONDO:equivalentTo Branchioma A rare, benign, well-circumscribed or encapsulated tumor that arises from the neck and occurs in adults. It is characterized by the presence of spindle cells, epithelial islands, and adipose tissue. MONDO:0021455 +MONDO:0970930 ear carcinoma NCIT:C54262 MONDO:equivalentTo Ear Carcinoma A carcinoma that arises from the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. MONDO:0003277|MONDO:0002038 +MONDO:0970931 intracranial melanoma NCIT:C5442 MONDO:equivalentTo Intracranial Melanoma A melanoma that arises from the leptomeninges within the cranium. MONDO:0021632|MONDO:0001657|MONDO:0003761 +MONDO:0970932 meckel diverticulum neuroendocrine tumor g1 NCIT:C6424 MONDO:equivalentTo Meckel Diverticulum Neuroendocrine Tumor G1 A well differentiated, low grade neuroendocrine neoplasm that arises in a Meckel diverticulum. MONDO:0021533 +MONDO:0970933 duodenal neuroendocrine tumor g1 NCIT:C6425 MONDO:equivalentTo Duodenal Neuroendocrine Tumor G1 A well differentiated, low grade neuroendocrine neoplasm that arises from the duodenum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. MONDO:0015063|MONDO:0000540 +MONDO:0970934 intracranial myeloid sarcoma NCIT:C7008 MONDO:equivalentTo Intracranial Myeloid Sarcoma A myeloid sarcoma that affects the meninges or the cerebral hemispheres. MONDO:0001657|MONDO:0003641|MONDO:0021632|MONDO:0006861 +MONDO:0970935 hamartomatous polyp NCIT:C8372 MONDO:equivalentTo Hamartomatous Polyp A polyp characterized by an overgrowth of mature cells and tissues that normally occur in the affected area. +MONDO:0970936 well differentiated fibrosarcoma NCIT:C9025 MONDO:equivalentTo Well Differentiated Fibrosarcoma A well-differentiated malignant neoplasm arising from the deep soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. MONDO:0005164 +MONDO:0970937 poorly differentiated angiosarcoma NCIT:C9031 MONDO:equivalentTo Poorly Differentiated Angiosarcoma An angiosarcoma characterized by the presence of significant cytologic atypia, necrosis and high mitotic activity. MONDO:0016982 +MONDO:0970938 well differentiated leiomyosarcoma NCIT:C9389 MONDO:equivalentTo Well Differentiated Leiomyosarcoma Grade I malignant smooth muscle neoplasm. It is characterized by a proliferation of neoplastic spindle cells. MONDO:0005058 +MONDO:0970939 poorly differentiated fibrosarcoma NCIT:C9404 MONDO:equivalentTo Poorly Differentiated Fibrosarcoma A usually aggressive malignant neoplasm arising from the deep soft tissue. It is characterized by the presence of poorly-differentiated spindle-shaped fibroblasts, collagenous stroma formation and increased mitotic activity. MONDO:0005164 +MONDO:0970940 low grade sarcoma NCIT:C9417 MONDO:equivalentTo Low Grade Sarcoma A sarcoma with the morphologic features of a low-grade tumor and presence of cellular differentiation. MONDO:0005089 +MONDO:0970941 high grade sarcoma NCIT:C9418 MONDO:equivalentTo High Grade Sarcoma A sarcoma with the morphologic features of a high-grade tumor and lack of cellular differentiation. MONDO:0005089 +MONDO:0975792 childhood glioblastoma NCIT:C5136 MONDO:equivalentTo Childhood Glioblastoma A glioblastoma that occurs during childhood. MONDO:0002505|MONDO:0018177|MONDO:1010030 +MONDO:0975793 childhood anaplastic oligodendroglioma NCIT:C5447 MONDO:equivalentTo Childhood Anaplastic Oligodendroglioma An anaplastic oligodendroglioma that arises from the central nervous system and occurs during childhood. MONDO:1010030|MONDO:0016696 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 782d592e..c0ef3f7f 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,3 +1,11 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0975761 immunodeficiency 126, susceptibility to OMIM:620931 MONDO:equivalentTo immunodeficiency 126, susceptibility to MONDO:0021094 +MONDO:0975795 kariminejad-reversade neurodevelopmental syndrome OMIM:620937 MONDO:equivalentTo kariminejad-reversade neurodevelopmental syndrome +MONDO:0975796 spastic paraplegia 93, autosomal recessive OMIM:620938 MONDO:equivalentTo spastic paraplegia 93, autosomal recessive MONDO:0019064 +MONDO:0975797 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities OMIM:620939 MONDO:equivalentTo myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities +MONDO:0975798 methylmalonic aciduria and homocystinuria, cbll type OMIM:620940 MONDO:equivalentTo methylmalonic aciduria and homocystinuria, cbll type MONDO:0016826 +MONDO:0975799 brain malformation renal syndrome OMIM:620943 MONDO:equivalentTo brain malformation renal syndrome +MONDO:0975800 spinocerebellar ataxia 51 OMIM:620947 MONDO:equivalentTo spinocerebellar ataxia 51 MONDO:0020380 +MONDO:0975801 encephalopathy, acute transient OMIM:620950 MONDO:equivalentTo encephalopathy, acute transient +MONDO:0975802 homocystinuria-megaloblastic anemia OMIMPS:236270 MONDO:equivalentTo Homocystinuria-megaloblastic anemia +MONDO:0975803 methylmalonic aciduria OMIMPS:251000 MONDO:equivalentTo Methylmalonic aciduria diff --git a/src/ontology/unmapped/doid-unmapped.owl b/src/ontology/unmapped/doid-unmapped.owl index 16213ba1..ef04c92f 100644 --- a/src/ontology/unmapped/doid-unmapped.owl +++ b/src/ontology/unmapped/doid-unmapped.owl @@ -45,255 +45,167 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + - + - + - + - + - + - + - + - + - + - + - + - + + + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + diff --git a/src/ontology/unmapped/ncit-unmapped.owl b/src/ontology/unmapped/ncit-unmapped.owl index b890f32f..49e90274 100644 --- a/src/ontology/unmapped/ncit-unmapped.owl +++ b/src/ontology/unmapped/ncit-unmapped.owl @@ -881,9 +881,9 @@ - + @@ -3944,9 +3944,9 @@ - + @@ -47124,13 +47124,17 @@ + - + + + + @@ -49977,9 +49981,13 @@ + - + + + + @@ -50000,11 +50008,13 @@ - + + + @@ -50029,10 +50039,14 @@ + - + + + + @@ -55811,9 +55825,13 @@ + - + + + + @@ -59069,18 +59087,6 @@ - - - - - - - - - - - - @@ -84575,10 +84581,10 @@ - + @@ -86113,9 +86119,9 @@ - + @@ -91730,9 +91736,9 @@ - + diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index 55fd9f7f..a322a80e 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -45,6 +45,14 @@ + + + + + + + + @@ -4971,12 +4979,6 @@ - - - - - - @@ -13359,6 +13361,12 @@ + + + + + + @@ -16845,6 +16853,12 @@ + + + + + + @@ -29350,6 +29364,12 @@ aortic aneurysm, familial abdominal, 1 aortic aneurysm, familial abdominal, 1 + + + + AAA1 + + @@ -29374,6 +29394,12 @@ prune belly syndrome prune belly syndrome + + + + PBS + + @@ -29412,6 +29438,12 @@ This term has one or more labels that end with ', INCLUDED'. adams-oliver syndrome 1 + + + + AOS1 + + @@ -29459,6 +29491,12 @@ This term has one or more labels that end with ', INCLUDED'. ALDH2 + + + + ALDH2 + + @@ -29486,6 +29524,12 @@ acetyl-coa acetyltransferase 2 ACAT2 + + + + ACAT2 + + @@ -29531,6 +29575,12 @@ chrna CHRNA1 + + + + CHRNA1 + + @@ -29570,6 +29620,12 @@ chrnb CHRNB1 + + + + CHRNB1 + + @@ -29611,6 +29667,12 @@ cholinergic receptor, nicotinic, delta polypeptide CHRND + + + + CHRND + + @@ -29646,6 +29708,12 @@ cholinergic receptor, nicotinic, epsilon polypeptide CHRNE + + + + CHRNE + + @@ -29675,6 +29743,12 @@ cholinergic receptor, nicotinic, gamma polypeptide CHRNG + + + + CHRNG + + @@ -29709,6 +29783,12 @@ ACHE + + + + ACHE + + @@ -29719,6 +29799,12 @@ achondroplasia achondroplasia + + + + ACH + + @@ -29761,6 +29847,12 @@ aconitase, mitochondrial ACO2 + + + + ACO2 + + @@ -29786,6 +29878,12 @@ schwannomatosis, vestibular schwannomatosis, vestibular + + + + SWNV + + @@ -29831,6 +29929,12 @@ This term has one or more labels that end with ', INCLUDED'. saethre-chotzen syndrome + + + + SCS + + @@ -29857,6 +29961,12 @@ adohr acrodysostosis 1 with or without hormone resistance + + + + ACRDYS1 + + @@ -29894,6 +30004,12 @@ palmoplantar keratoderma, punctate type 3 palmoplantar keratoderma, punctate type 3 + + + + PPKP3 + + @@ -29905,6 +30021,12 @@ hopf disease acrokeratosis verruciformis + + + + AKV + + @@ -29954,6 +30076,12 @@ This term has one or more labels that end with ', INCLUDED'. pituitary adenoma 1, multiple types + + + + PITA1 + + @@ -29973,6 +30101,12 @@ restless legs syndrome, susceptibility to, 1 restless legs syndrome, susceptibility to, 1 + + + + RLS1 + + @@ -29993,6 +30127,12 @@ acromicric dysplasia acromicric dysplasia + + + + ACMICD + + @@ -30028,6 +30168,12 @@ ACR + + + + ACR + + @@ -30051,6 +30197,12 @@ serpentine fibula-polycystic kidney syndrome hajdu-cheney syndrome + + + + HJCYS + + @@ -30068,6 +30220,12 @@ f syndrome acropectorovertebral dysplasia + + + + ACRPV + + @@ -30104,6 +30262,12 @@ spermatozoa, round-headed spermatogenic failure 6 + + + + SPGF6 + + @@ -30141,6 +30305,12 @@ smooth muscle actin ACTC1 + + + + ACTC1 + + @@ -30172,6 +30342,12 @@ actsg ACTG2 + + + + ACTG2 + + @@ -30212,6 +30388,12 @@ cytoskeletal gamma-actin ACTG1 + + + + ACTG1 + + @@ -30251,6 +30433,12 @@ filamin, gamma FLNC + + + + FLNC + + @@ -30295,6 +30483,12 @@ actinin, alpha-2 ACTN2 + + + + ACTN2 + + @@ -30317,6 +30511,12 @@ actinin, alpha-3 ACTN3 + + + + ACTN3 + + @@ -30340,6 +30540,12 @@ ACTN1 + + + + ACTN1 + + @@ -30365,6 +30571,12 @@ ACVR1 + + + + ACVR1 + + @@ -30378,6 +30590,12 @@ This term has one or more labels that end with ', INCLUDED'. PML + + + + PML + + @@ -30404,6 +30622,12 @@ RFC1 + + + + RFC1 + + @@ -30433,6 +30657,12 @@ signal transducer and activator of transcription 3 STAT3 + + + + STAT3 + + @@ -30464,6 +30694,12 @@ APRT + + + + APRT + + @@ -30505,6 +30741,12 @@ asma ACTA1 + + + + ACTA1 + + @@ -30541,6 +30783,12 @@ actin, vascular smooth muscle ACTA2 + + + + ACTA2 + + @@ -30589,6 +30837,12 @@ beta-actin ACTB + + + + ACTB + + @@ -30641,6 +30895,12 @@ ADD1 + + + + ADD1 + + @@ -30651,6 +30911,12 @@ adeno-associated virus integration site 1 adeno-associated virus integration site 1 + + + + AAVS1 + + @@ -30709,6 +30975,12 @@ ADK + + + + ADK + + @@ -30734,6 +31006,12 @@ AMPD1 + + + + AMPD1 + + @@ -30762,6 +31040,12 @@ adenosine monophosphate deaminase 2 AMPD2 + + + + AMPD2 + + @@ -30785,6 +31069,12 @@ AMPD3 + + + + AMPD3 + + @@ -30839,6 +31129,12 @@ ATP5F1B + + + + ATP5F1B + + @@ -30912,6 +31208,12 @@ AK1 + + + + AK1 + + @@ -30936,6 +31238,12 @@ AK2 + + + + AK2 + + @@ -30960,6 +31268,12 @@ adsl deficiency adenylosuccinase deficiency + + + + ADSLD + + @@ -30985,6 +31299,12 @@ ADCY1 + + + + ADCY1 + + @@ -31021,6 +31341,12 @@ ARF1 + + + + ARF1 + + @@ -31069,6 +31395,12 @@ solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 SLC25A4 + + + + SLC25A4 + + @@ -31109,6 +31441,12 @@ ferredoxin:nadp(+) reductase FDXR + + + + FDXR + + @@ -31156,6 +31494,12 @@ AGRN + + + + AGRN + + @@ -31207,6 +31551,12 @@ tietz syndrome tietz albinism-deafness syndrome + + + + TADS + + @@ -31219,6 +31569,12 @@ pseudohypoparathyroidism, type 1a pseudohypoparathyroidism, type 1a + + + + PHP1A + + @@ -31256,6 +31612,12 @@ albumin ALB + + + + ALB + + @@ -31284,6 +31646,12 @@ ADH5 + + + + ADH5 + + @@ -31308,6 +31676,12 @@ alcohol dehydrogenase 2 ADH1B + + + + ADH1B + + @@ -31338,6 +31712,12 @@ alcohol dehydrogenase 3 ADH1C + + + + ADH1C + + @@ -31388,6 +31768,12 @@ ALDOA + + + + ALDOA + + @@ -31412,6 +31798,12 @@ hyperaldosteronism, familial, type 1 hyperaldosteronism, familial, type 1 + + + + HALD1 + + @@ -31440,6 +31832,12 @@ This term has one or more labels that end with ', INCLUDED'. alopecia areata 1 + + + + AA1 + + @@ -31452,6 +31850,12 @@ ppkca, stevanovic type palmoplantar keratoderma and congenital alopecia 1 + + + + PPKCA1 + + @@ -31463,6 +31867,12 @@ alopecia, familial focal alopecia, familial focal + + + + ALPF + + @@ -31501,6 +31911,12 @@ alpha-fetoprotein AFP + + + + AFP + + @@ -31538,6 +31954,12 @@ zinc finger homeobox 3 ZFHX3 + + + + ZFHX3 + + @@ -31563,6 +31985,12 @@ GANAB + + + + GANAB + + @@ -31592,6 +32020,12 @@ n-acetyl-alpha-d-galactosaminidase NAGA + + + + NAGA + + @@ -31603,6 +32037,12 @@ alport syndrome 3a, autosomal dominant alport syndrome 3a, autosomal dominant + + + + ATS3A + + @@ -31629,6 +32069,12 @@ ADRA2A + + + + ADRA2A + + @@ -31661,6 +32107,12 @@ LRPAP1 + + + + LRPAP1 + + @@ -31672,6 +32124,12 @@ alternating hemiplegia of childhood 1 alternating hemiplegia of childhood 1 + + + + AHC1 + + @@ -31687,6 +32145,12 @@ This term has one or more labels that end with ', INCLUDED'. alzheimer disease, familial, 1 + + + + AD1 + + @@ -31699,6 +32163,12 @@ alzheimer disease associated with apoe4 alzheimer disease 2 + + + + AD2 + + @@ -31747,6 +32217,12 @@ s182 PSEN1 + + + + PSEN1 + + @@ -31779,6 +32255,12 @@ enamel hypoplasia, hereditary localized amelogenesis imperfecta, type 1b + + + + AI1B + + @@ -31791,6 +32273,12 @@ amelogenesis imperfecta, type 4 amelogenesis imperfecta, type 4 + + + + AI4 + + @@ -31803,6 +32291,12 @@ amelogenesis imperfecta, type 1a amelogenesis imperfecta, type 1a + + + + AI1A + + @@ -31847,6 +32341,12 @@ SLC3A1 + + + + SLC3A1 + + @@ -31872,6 +32372,12 @@ ACY1 + + + + ACY1 + + @@ -31911,6 +32417,12 @@ protease nexin 2 APP + + + + APP + + @@ -31968,6 +32480,12 @@ ostertag type amyloidosis amyloidosis, hereditary systemic 2 + + + + AMYLD2 + + @@ -31982,6 +32500,12 @@ transthyretin amyloidosis amyloidosis, hereditary systemic 1 + + + + AMYLD1 + + @@ -32010,6 +32534,12 @@ pca amyloidosis, primary localized cutaneous, 1 + + + + PLCA1 + + @@ -32047,6 +32577,12 @@ This term has one or more labels that end with ', INCLUDED'. amyotrophic lateral sclerosis 1 + + + + ALS1 + + @@ -32098,6 +32634,12 @@ frontotemporal dementia and/or motor neuron disease frontotemporal dementia and/or amyotrophic lateral sclerosis 1 + + + + FTDALS1 + + @@ -32108,6 +32650,12 @@ anal sphincter dysplasia anal sphincter dysplasia + + + + ASDP + + @@ -32173,6 +32721,12 @@ ALK + + + + ALK + + @@ -32202,6 +32756,12 @@ erythroreticulosis, hereditary benign anemia, congenital dyserythropoietic, type iiia + + + + CDAN3A + + @@ -32234,6 +32794,12 @@ red cell aplasia, pure, hereditary diamond-blackfan anemia 1 + + + + DBA1 + + @@ -32252,6 +32818,12 @@ aneurysmal subarachnoid hemorrhage, familial aneurysm, intracranial berry, 1 + + + + ANIB1 + + @@ -32286,6 +32858,12 @@ This term has one or more labels that end with ', INCLUDED'. angelman syndrome + + + + AS + + @@ -32296,6 +32874,12 @@ angel-shaped phalangoepiphyseal dysplasia angel-shaped phalangoepiphyseal dysplasia + + + + ASPED + + @@ -32320,6 +32904,12 @@ ANG + + + + ANG + + @@ -32358,6 +32948,12 @@ This term has one or more labels that end with ', INCLUDED'. angioedema, hereditary, 1 + + + + HAE1 + + @@ -32385,6 +32981,12 @@ AGT + + + + AGT + + @@ -32427,6 +33029,12 @@ This term has one or more labels that end with ', INCLUDED'. AGTR1 + + + + AGTR1 + + @@ -32469,6 +33077,12 @@ This term has one or more labels that end with ', INCLUDED'. ACE + + + + ACE + + @@ -32492,6 +33106,12 @@ dann-epstein-sohar syndrome anhidrosis, isolated, with normal sweat glands + + + + ANHD + + @@ -32518,6 +33138,12 @@ SLC4A3 + + + + SLC4A3 + + @@ -32542,6 +33168,12 @@ This term has one or more labels that end with ', INCLUDED'. aniridia 1 + + + + AN1 + + @@ -32579,6 +33211,12 @@ ankyloblepharon filiforme adnatum and cleft palate ankyloblepharon filiforme adnatum and cleft palate + + + + AFA + + @@ -32591,6 +33229,12 @@ hay-wells syndrome ankyloblepharon-ectodermal defects-cleft lip/palate + + + + AEC + + @@ -32603,6 +33247,12 @@ ankyloglossia with or without tooth anomalies ankyloglossia with or without tooth anomalies + + + + ANKG + + @@ -32617,6 +33267,12 @@ spondyloarthropathy, susceptibility to, 1 spondyloarthropathy, susceptibility to, 1 + + + + SPDA1 + + @@ -32654,6 +33310,12 @@ ankyrin-b ANK2 + + + + ANK2 + + @@ -32680,6 +33342,12 @@ This term has one or more labels that end with ', INCLUDED'. tooth agenesis, selective, 1 + + + + STHAG1 + + @@ -32699,6 +33367,12 @@ total anomalous pulmonary venous return 1 total anomalous pulmonary venous return 1 + + + + TAPVR1 + + @@ -32749,6 +33423,12 @@ nail disorder, nonsyndromic congenital, 6 nail disorder, nonsyndromic congenital, 6 + + + + NDNC6 + + @@ -32775,6 +33455,12 @@ anosmia, isolated congenital anosmia, isolated congenital + + + + ANIC + + @@ -32796,6 +33482,12 @@ anterior segment ocular dysgenesis anterior segment dysgenesis 1 + + + + ASGD1 + + @@ -32817,6 +33509,12 @@ leukocyte antigen mic12 antigen identified by monoclonal antibody 30.2a8 + + + + MIC12 + + @@ -32835,6 +33533,12 @@ antigen msk41 identified by monoclonal antibody e3 antigen msk41 identified by monoclonal antibody e3 + + + + MSK41 + + @@ -32859,6 +33563,12 @@ CD19 + + + + CD19 + + @@ -32886,6 +33596,12 @@ CD44 + + + + CD44 + + @@ -32912,6 +33628,12 @@ CD59 + + + + CD59 + + @@ -32930,6 +33652,12 @@ serpin peptidase inhibitor, clade a, member 3 SERPINA3 + + + + SERPINA3 + + @@ -32965,6 +33693,12 @@ SERPINC1 + + + + SERPINC1 + + @@ -32991,6 +33725,12 @@ SLC9A1 + + + + SLC9A1 + + @@ -33034,6 +33774,12 @@ ALDH7A1 + + + + ALDH7A1 + + @@ -33061,6 +33807,12 @@ serpin peptidase inhibitor, clade a, member 1 SERPINA1 + + + + SERPINA1 + + @@ -33075,6 +33827,12 @@ serpina2 serpin peptidase inhibitor, clade a, member 2, pseudogene + + + + SERPINA2P + + @@ -33085,6 +33843,12 @@ antiviral state repressor, regulator of antiviral state repressor, regulator of + + + + AVRR + + @@ -33113,6 +33877,12 @@ IFNAR1 + + + + IFNAR1 + + @@ -33172,6 +33942,12 @@ interferon-gamma receptor 1 IFNGR1 + + + + IFNGR1 + + @@ -33189,6 +33965,12 @@ This term has one or more labels that end with ', INCLUDED'. townes-brocks syndrome 1 + + + + TBS1 + + @@ -33235,6 +34017,12 @@ TFAP2A + + + + TFAP2A + + @@ -33259,6 +34047,12 @@ scalp defect, congenital aplasia cutis congenita, nonsyndromic + + + + ACC + + @@ -33313,6 +34107,12 @@ This term has one or more labels that end with ', INCLUDED'. APOA2 + + + + APOA2 + + @@ -33350,6 +34150,12 @@ This term has one or more labels that end with ', INCLUDED'. APOA1 + + + + APOA1 + + @@ -33384,6 +34190,12 @@ APOC3 + + + + APOC3 + + @@ -33417,6 +34229,12 @@ This term has one or more labels that end with ', INCLUDED'. APOB + + + + APOB + + @@ -33469,6 +34287,12 @@ apolipoprotein e APOE + + + + APOE + + @@ -33516,6 +34340,12 @@ low density lipoprotein receptor-related protein 1 LRP1 + + + + LRP1 + + @@ -33547,6 +34377,12 @@ transcription factor coup 2 NR2F2 + + + + NR2F2 + + @@ -33572,6 +34408,12 @@ channel-like integral membrane protein, 28-kd AQP1 + + + + AQP1 + + @@ -33596,6 +34438,12 @@ AQP2 + + + + AQP2 + + @@ -33632,6 +34480,12 @@ RARS1 + + + + RARS1 + + @@ -33693,6 +34547,12 @@ This term has one or more labels that end with ', INCLUDED'. CYP19A1 + + + + CYP19A1 + + @@ -33726,6 +34586,12 @@ DDC + + + + DDC + + @@ -33750,6 +34616,12 @@ This term has one or more labels that end with ', INCLUDED'. arrhythmogenic right ventricular dysplasia, familial, 1 + + + + ARVD1 + + @@ -33814,6 +34686,12 @@ This term has one or more labels that end with ', INCLUDED'. arthrogryposis, distal, type 1a + + + + DA1A + + @@ -33846,6 +34724,12 @@ oculomelic amyoplasia arthrogryposis, distal, type 5 + + + + DA5 + + @@ -33858,6 +34742,12 @@ arthrogryposis, distal, type 6 arthrogryposis, distal, type 6 + + + + DA6 + + @@ -33872,6 +34762,12 @@ stickler syndrome, vitreous type 1 stickler syndrome, type 1 + + + + STL1 + + @@ -33915,6 +34811,12 @@ ASNS + + + + ASNS + + @@ -33964,6 +34866,12 @@ nars NARS1 + + + + NARS1 + + @@ -33976,6 +34884,12 @@ spermatogenic failure 2 spermatogenic failure 2 + + + + SPGF2 + + @@ -34002,6 +34916,12 @@ episodic ataxia, type 2 episodic ataxia, type 2 + + + + EA2 + + @@ -34013,6 +34933,12 @@ spastic ataxia 1, autosomal dominant spastic ataxia 1, autosomal dominant + + + + SPAX1 + + @@ -34026,6 +34952,12 @@ spastic ataxia with congenital miosis spastic ataxia 7, autosomal dominant + + + + SPAX7 + + @@ -34049,6 +34981,12 @@ spondylohumerofemoral hypoplasia atelosteogenesis, type 1 + + + + AO1 + + @@ -34061,6 +34999,12 @@ atelosteogenesis, type 3 atelosteogenesis, type 3 + + + + AO3 + + @@ -34078,6 +35022,12 @@ atherosclerosis susceptibility atherosclerosis susceptibility + + + + ATHS + + @@ -34104,6 +35054,12 @@ ATP2A1 + + + + ATP2A1 + + @@ -34128,6 +35084,12 @@ ATP2B1 + + + + ATP2B1 + + @@ -34157,6 +35119,12 @@ plasma membrane ca(2+)-atpase, type 2 ATP2B2 + + + + ATP2B2 + + @@ -34187,6 +35155,12 @@ sarcoplasmic reticulum ca(2+)-atpase 2 ATP2A2 + + + + ATP2A2 + + @@ -34212,6 +35186,12 @@ ATP6V0C + + + + ATP6V0C + + @@ -34239,6 +35219,12 @@ ATP6V1E1 + + + + ATP6V1E1 + + @@ -34260,6 +35246,12 @@ cardiomyopathy, familial, with conduction disturbance atrial standstill 1 + + + + ATRST1 + + @@ -34294,6 +35286,12 @@ pronatriodilatin NPPA + + + + NPPA + + @@ -34317,6 +35315,12 @@ This term has one or more labels that end with ', INCLUDED'. atrial septal defect 1 + + + + ASD1 + + @@ -34329,6 +35333,12 @@ atrial septal defect 7 with or without atrioventricular conduction defects atrial septal defect 7 with or without atrioventricular conduction defects + + + + ASD7 + + @@ -34377,6 +35387,12 @@ natriuretic peptide receptor 2 NPR2 + + + + NPR2 + + @@ -34402,6 +35418,12 @@ NPR3 + + + + NPR3 + + @@ -34446,6 +35468,12 @@ sveinsson chorioretinal atrophy sveinsson chorioretinal atrophy + + + + SCRA + + @@ -34456,6 +35484,12 @@ attached cell antigen 28.3.7 attached cell antigen 28.3.7 + + + + MIC7 + + @@ -34506,6 +35540,12 @@ crt CALR + + + + CALR + + @@ -34561,6 +35601,12 @@ spinopontine atrophy machado-joseph disease + + + + MJD + + @@ -34580,6 +35626,12 @@ baboon m7 virus integration site baboon m7 virus integration site + + + + BEVI + + @@ -34600,6 +35652,12 @@ This term has one or more labels that end with ', INCLUDED'. alopecia, androgenetic, 1 + + + + AGA1 + + @@ -34688,6 +35746,12 @@ This term has one or more labels that end with ', INCLUDED'. SLC4A1 + + + + SLC4A1 + + @@ -34716,6 +35780,12 @@ SLC4A2 + + + + SLC4A2 + + @@ -34743,6 +35813,12 @@ gastroesophageal reflux, pediatric gastroesophageal reflux + + + + GER + + @@ -34768,6 +35844,12 @@ nevoid basal cell carcinoma syndrome basal cell nevus syndrome 1 + + + + BCNS1 + + @@ -34795,6 +35877,12 @@ BSG + + + + BSG + + @@ -34829,6 +35917,12 @@ CD40 + + + + CD40 + + @@ -34840,6 +35934,12 @@ b-cell growth factor 1 b-cell growth factor + + + + BCGF + + @@ -34876,6 +35976,12 @@ bcl4, formerly BCL3 + + + + BCL3 + + @@ -34916,6 +36022,12 @@ beta-1-adrenergic receptor ADRB1 + + + + ADRB1 + + @@ -34926,6 +36038,12 @@ beta-glycerol phosphatase beta-glycerol phosphatase + + + + GPB + + @@ -34947,6 +36065,12 @@ taurine renal reabsorption beta-amino acids, renal transport of + + + + AABT + + @@ -34957,6 +36081,12 @@ beta-adrenergic stimulation, response to beta-adrenergic stimulation, response to + + + + BAS + + @@ -34978,6 +36108,12 @@ This term has one or more labels that end with ', INCLUDED'. ADRB2 + + + + ADRB2 + + @@ -35001,6 +36137,12 @@ ADRB3 + + + + ADRB3 + + @@ -35029,6 +36171,12 @@ beta-2-microglobulin B2M + + + + B2M + + @@ -35047,6 +36195,12 @@ pbc biliary cirrhosis, primary, 1 + + + + PBC1 + + @@ -35063,6 +36217,12 @@ bicuspid aortic valve aortic valve disease 1 + + + + AOVD1 + + @@ -35099,6 +36259,12 @@ BLVRA + + + + BLVRA + + @@ -35124,6 +36290,12 @@ HTR1A + + + + HTR1A + + @@ -35199,6 +36371,12 @@ This term has one or more labels that end with ', INCLUDED'. blepharophimosis, ptosis, and epicanthus inversus + + + + BPES + + @@ -35244,6 +36422,12 @@ ABO + + + + ABO + + @@ -35263,6 +36447,12 @@ blood group--ahonen blood group--ahonen + + + + AN + + @@ -35276,6 +36466,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, colton system + + + + CO + + @@ -35287,6 +36483,12 @@ diego blood group system blood group, diego system + + + + DI + + @@ -35311,6 +36513,12 @@ ART4 + + + + ART4 + + @@ -35324,6 +36532,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, duffy system + + + + FY + + @@ -35366,6 +36580,12 @@ This term has one or more labels that end with ', INCLUDED'. GYPC + + + + GYPC + + @@ -35380,6 +36600,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, 1 system + + + + Ii + + @@ -35407,6 +36633,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group--kell system + + + + KEL + + @@ -35430,6 +36662,12 @@ kidd blood group system blood group, kidd system + + + + JK + + @@ -35454,6 +36692,12 @@ FUT3 + + + + FUT3 + + @@ -35465,6 +36709,12 @@ blood group--luke, formerly blood group--lke + + + + LKE + + @@ -35476,6 +36726,12 @@ dominant 50u (a-b-) phenotype blood group--lutheran inhibitor + + + + INLU + + @@ -35488,6 +36744,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group--lutheran system + + + + LU + + @@ -35511,6 +36773,12 @@ landsteiner-wiener blood group system blood group system, landsteiner-wiener + + + + LW + + @@ -35526,6 +36794,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, mn + + + + MN + + @@ -35536,6 +36810,12 @@ blood group--newfoundland blood group--newfoundland + + + + NFLD + + @@ -35558,6 +36838,12 @@ blood group--ok blood group--ok + + + + OK + + @@ -35603,6 +36889,12 @@ blood group, langereis system blood group, langereis system + + + + LAN + + @@ -35614,6 +36906,12 @@ radin blood group antigen radin blood group antigen + + + + RD + + @@ -35644,6 +36942,12 @@ rhesus blood group, d antigen RHD + + + + RHD + + @@ -35679,6 +36983,12 @@ RHCE + + + + RHCE + + @@ -35703,6 +37013,12 @@ galgt2 B4GALNT2 + + + + B4GALNT2 + + @@ -35714,6 +37030,12 @@ ss blood group blood group, ss + + + + Ss + + @@ -35725,6 +37047,12 @@ scianna blood group blood group--scianna system + + + + SC + + @@ -35741,6 +37069,12 @@ blood group--stoltzfus system blood group--stoltzfus system + + + + Sf + + @@ -35751,6 +37085,12 @@ blood group--ul system blood group--ul system + + + + UL + + @@ -35762,6 +37102,12 @@ waldner blood group antigen blood group--waldner type + + + + WD + + @@ -35773,6 +37119,12 @@ wright blood group antigen blood group--wright antigen + + + + WR + + @@ -35831,6 +37183,12 @@ CD79A + + + + CD79A + + @@ -35856,6 +37214,12 @@ MS4A1 + + + + MS4A1 + + @@ -35880,6 +37244,12 @@ cole-carpenter syndrome 1 cole-carpenter syndrome 1 + + + + CLCRP1 + + @@ -35905,6 +37275,12 @@ myopathy, limb-girdle, with bone fragility diaphyseal medullary stenosis with malignant fibrous histiocytoma + + + + DMSMFH + + @@ -35942,6 +37318,12 @@ This term has one or more labels that end with ', INCLUDED'. BMP2 + + + + BMP2 + + @@ -35972,6 +37354,12 @@ bone morphogenetic protein 4 BMP4 + + + + BMP4 + + @@ -35997,6 +37385,12 @@ BMP1 + + + + BMP1 + + @@ -36021,6 +37415,12 @@ BMP6 + + + + BMP6 + + @@ -36050,6 +37450,12 @@ boomerang dysplasia boomerang dysplasia + + + + BOOMD + + @@ -36062,6 +37468,12 @@ weismann-netter syndrome weismann-netter syndrome + + + + WNS + + @@ -36096,6 +37508,12 @@ hypertension and brachydactyly syndrome hypertension and brachydactyly syndrome + + + + HTNB + + @@ -36138,6 +37556,12 @@ farabee-type brachydactyly brachydactyly, type a1 + + + + BDA1 + + @@ -36150,6 +37574,12 @@ mohr-wriedt type brachydactyly brachydactyly, type a2 + + + + BDA2 + + @@ -36162,6 +37592,12 @@ brachymesophalangy 5 brachydactyly, type a3 + + + + BDA3 + + @@ -36174,6 +37610,12 @@ temtamy type brachydactyly brachydactyly, type a4 + + + + BDA4 + + @@ -36206,6 +37648,12 @@ brachydactyly, type b1 brachydactyly, type b1 + + + + BDB1 + + @@ -36217,6 +37665,12 @@ brachydactyly, type c brachydactyly, type c + + + + BDC + + @@ -36228,6 +37682,12 @@ stub thumb brachydactyly, type d + + + + BDD + + @@ -36239,6 +37699,12 @@ brachydactyly, type e1 brachydactyly, type e1 + + + + BDE1 + + @@ -36326,6 +37792,12 @@ brachyrachia brachyolmia type 3 + + + + BCYM3 + + @@ -36350,6 +37822,12 @@ BCAT2 + + + + BCAT2 + + @@ -36396,6 +37874,12 @@ lip pseudocleft-hemangiomatous branchial cyst syndrome branchiooculofacial syndrome + + + + BOFS + + @@ -36427,6 +37911,12 @@ melnick-fraser syndrome branchiootorenal syndrome 1 + + + + BOR1 + + @@ -36447,6 +37937,12 @@ hypertrophy of the breast, juvenile hypertrophy of the breast, juvenile + + + + JHB + + @@ -36461,6 +37957,12 @@ breasts and/or nipples, aplasia or hypoplasia of, 1 breasts and/or nipples, aplasia or hypoplasia of, 1 + + + + BNAH1 + + @@ -36486,6 +37988,12 @@ RPL13 + + + + RPL13 + + @@ -36521,6 +38029,12 @@ breast cancer 1 gene BRCA1 + + + + BRCA1 + + @@ -36562,6 +38076,12 @@ This term has one or more labels that end with ', INCLUDED'. albinism, oculocutaneous, type 6 + + + + OCA6 + + @@ -36577,6 +38097,12 @@ epidermolytic ichthyosis epidermolytic hyperkeratosis 1 + + + + EHK1 + + @@ -36609,6 +38135,12 @@ dystonin DST + + + + DST + + @@ -36639,6 +38171,12 @@ collagen, type xvii, alpha-1 COL17A1 + + + + COL17A1 + + @@ -36659,6 +38197,12 @@ This term has one or more labels that end with ', INCLUDED'. progressive familial heart block, type 1a + + + + PFHB1A + + @@ -36678,6 +38222,12 @@ bungarotoxin, alpha, receptor for bungarotoxin, alpha, receptor for + + + + BGTXR + + @@ -36709,6 +38259,12 @@ burkitt lymphoma burkitt lymphoma + + + + BL + + @@ -36720,6 +38276,12 @@ infantile cortical hyperostosis caffey disease + + + + CAFYD + + @@ -36745,6 +38307,12 @@ CAD + + + + CAD + + @@ -36773,6 +38341,12 @@ CDH15 + + + + CDH15 + + @@ -36810,6 +38384,12 @@ n-cadherin CDH2 + + + + CDH2 + + @@ -36842,6 +38422,12 @@ p-cadherin CDH3 + + + + CDH3 + + @@ -36867,6 +38453,12 @@ CTNNA2 + + + + CTNNA2 + + @@ -36914,6 +38506,12 @@ calcium/calmodulin-dependent protein kinase type 2a CAMK2A + + + + CAMK2A + + @@ -36937,6 +38535,12 @@ CAST + + + + CAST + + @@ -36982,6 +38586,12 @@ protein phosphatase 3, catalytic subunit, alpha isoform PPP3CA + + + + PPP3CA + + @@ -37015,6 +38625,12 @@ CALCR + + + + CALCR + + @@ -37060,6 +38676,12 @@ CAPNS1 + + + + CAPNS1 + + @@ -37089,6 +38711,12 @@ phosphorylase kinase, delta subunit CALM1 + + + + CALM1 + + @@ -37122,6 +38750,12 @@ CALM2 + + + + CALM2 + + @@ -37145,6 +38779,12 @@ phkd3 CALM3 + + + + CALM3 + + @@ -37171,6 +38811,12 @@ CALCRL + + + + CALCRL + + @@ -37190,6 +38836,12 @@ This term has one or more labels that end with ', INCLUDED'. camptodactyly 1 + + + + CAMPD1 + + @@ -37215,6 +38867,12 @@ CACNA2D1 + + + + CACNA2D1 + + @@ -37261,6 +38919,12 @@ dhpr, alpha-1 subunit CACNA1C + + + + CACNA1C + + @@ -37291,6 +38955,12 @@ calcium channel, voltage-dependent, 50 type, alpha-1d subunit CACNA1D + + + + CACNA1D + + @@ -37335,6 +39005,12 @@ cchl1a3 CACNA1S + + + + CACNA1S + + @@ -37366,6 +39042,12 @@ CAPN1 + + + + CAPN1 + + @@ -37398,6 +39080,12 @@ p94 CAPN3 + + + + CAPN3 + + @@ -37425,6 +39113,12 @@ CASQ1 + + + + CASQ1 + + @@ -37449,6 +39143,12 @@ CASQ2 + + + + CASQ2 + + @@ -37474,6 +39174,12 @@ This term has one or more labels that end with ', INCLUDED'. campomelic dysplasia + + + + CMPD + + @@ -37488,6 +39194,12 @@ gordon syndrome arthrogryposis, distal, type 3 + + + + DA3 + + @@ -37527,6 +39239,12 @@ This term has one or more labels that end with ', INCLUDED'. NUP214 + + + + NUP214 + + @@ -37676,6 +39394,12 @@ colorectal cancer colorectal cancer + + + + CRC + + @@ -37724,6 +39448,12 @@ cmct candidiasis, familial, 1 + + + + CANDF1 + + @@ -37788,6 +39518,12 @@ CA5A + + + + CA5A + + @@ -37814,6 +39550,12 @@ CA8 + + + + CA8 + + @@ -37842,6 +39584,12 @@ CES1 + + + + CES1 + + @@ -37884,6 +39632,12 @@ CEL + + + + CEL + + @@ -37917,6 +39671,12 @@ CPE + + + + CPE + + @@ -37937,6 +39697,12 @@ ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome + + + + VACRDS + + @@ -37962,6 +39728,12 @@ cfcs cardiofaciocutaneous syndrome 1 + + + + CFC1 + + @@ -37973,6 +39745,12 @@ cardiomyopathy, familial hypertrophic, 2 cardiomyopathy, familial hypertrophic, 2 + + + + CMH2 + + @@ -37984,6 +39762,12 @@ cardiomyopathy, familial hypertrophic, 3 cardiomyopathy, familial hypertrophic, 3 + + + + CMH3 + + @@ -37997,6 +39781,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, familial hypertrophic, 4 + + + + CMH4 + + @@ -38022,6 +39812,12 @@ cardiomyopathy, idiopathic dilated cardiomyopathy, dilated, 1a + + + + CMD1A + + @@ -38034,6 +39830,12 @@ rcm cardiomyopathy, familial restrictive, 1 + + + + RCM1 + + @@ -38067,6 +39869,12 @@ This term has one or more labels that end with ', INCLUDED'. hypercarotenemia and vitamin a deficiency, autosomal dominant + + + + HCVAD + + @@ -38084,6 +39892,12 @@ pheochromocytoma/paraganglioma syndrome 4 pheochromocytoma/paraganglioma syndrome 4 + + + + PPGL4 + + @@ -38108,6 +39922,12 @@ This term has one or more labels that end with ', INCLUDED'. carpal tunnel syndrome 1 + + + + CTS1 + + @@ -38132,6 +39952,12 @@ CSNK2A1 + + + + CSNK2A1 + + @@ -38157,6 +39983,12 @@ CSNK2B + + + + CSNK2B + + @@ -38176,6 +40008,12 @@ schmid-fraccaro syndrome cat eye syndrome + + + + CES + + @@ -38205,6 +40043,12 @@ CAT + + + + CAT + + @@ -38237,6 +40081,12 @@ tyrp TYRP1 + + + + TYRP1 + + @@ -38266,6 +40116,12 @@ cataract, posterior polar, 5 cataract 32, multiple types + + + + CTRCT32 + + @@ -38285,6 +40141,12 @@ cataract, congenital, cerulean type, 1 cataract 7 + + + + CTRCT7 + + @@ -38303,6 +40165,12 @@ cataract, congenital, volkmann type cataract 8, multiple types + + + + CTRCT8 + + @@ -38331,6 +40199,12 @@ cataract, punctate, progressive juvenile-onset cataract 4, multiple types + + + + CTRCT4 + + @@ -38349,6 +40223,12 @@ cataract 29, coralliform cataract 29 + + + + CTRCT29 + + @@ -38372,6 +40252,12 @@ cataract 42 cataract 42 + + + + CTRCT42 + + @@ -38395,6 +40281,12 @@ cataract 20, multiple types cataract 20, multiple types + + + + CTRCT20 + + @@ -38431,6 +40323,12 @@ cataract, zonular pulverulent, 1 cataract 1, multiple types + + + + CTRCT1 + + @@ -38454,6 +40352,12 @@ cataract 30, multiple types cataract 30, multiple types + + + + CTRCT30 + + @@ -38466,6 +40370,12 @@ cataract 41, congenital nuclear type cataract 41 + + + + CTRCT41 + + @@ -38491,6 +40401,12 @@ cataract, posterior polar, 1 cataract 6, multiple types + + + + CTRCT6 + + @@ -38502,6 +40418,12 @@ cataract 13 with adult i phenotype cataract 13 with adult i phenotype + + + + CTRCT13 + + @@ -38532,6 +40454,12 @@ This term has one or more labels that end with ', INCLUDED'. COMT + + + + COMT + + @@ -38557,6 +40485,12 @@ cataract, marner type cataract 5, multiple types + + + + CTRCT5 + + @@ -38582,6 +40516,12 @@ CTNNA1 + + + + CTNNA1 + + @@ -38641,6 +40581,12 @@ catenin, beta-1 CTNNB1 + + + + CTNNB1 + + @@ -38668,6 +40614,12 @@ This term has one or more labels that end with ', INCLUDED'. CTSB + + + + CTSB + + @@ -38691,6 +40643,12 @@ CTSD + + + + CTSD + + @@ -38719,6 +40677,12 @@ This term has one or more labels that end with ', INCLUDED'. cerebral cavernous malformations + + + + CCM + + @@ -38758,6 +40722,12 @@ CUX1 + + + + CUX1 + + @@ -38782,6 +40752,12 @@ cebp CEBPA + + + + CEBPA + + @@ -38807,6 +40783,12 @@ lymphocyte function-associated antigen 1 immunodeficiency leukocyte adhesion deficiency, type 1 + + + + LAD1 + + @@ -38843,6 +40825,12 @@ MCM2 + + + + MCM2 + + @@ -38854,6 +40842,12 @@ temperature-sensitive af8 complement temperature-sensitive af8 complement + + + + AF8T + + @@ -38878,6 +40872,12 @@ CDC42 + + + + CDC42 + + @@ -38912,6 +40912,12 @@ CNBP + + + + CNBP + + @@ -38925,6 +40931,12 @@ congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia + + + + CMYO1A + + @@ -38976,6 +40988,12 @@ CENPE + + + + CENPE + + @@ -39010,6 +41028,12 @@ spinocerebellar ataxia, 16q22-linked spinocerebellar ataxia 31 + + + + SCA31 + + @@ -39046,6 +41070,12 @@ spinocerebellar ataxia 29 spinocerebellar ataxia 29 + + + + SCA29 + + @@ -39081,6 +41111,12 @@ sotos syndrome 1, formerly sotos syndrome + + + + SOTOS + + @@ -39113,6 +41149,12 @@ rib gap defects with micrognathia cerebrocostomandibular syndrome + + + + CCMS + + @@ -39137,6 +41179,12 @@ CP + + + + CP + + @@ -39201,6 +41249,12 @@ klippel-feil syndrome 1, autosomal dominant klippel-feil syndrome 1, autosomal dominant + + + + KFS1 + + @@ -39241,6 +41295,12 @@ hsp60 HSPD1 + + + + HSPD1 + + @@ -39260,6 +41320,12 @@ peroneal muscular atrophy charcot-marie-tooth disease, demyelinating, type 1b + + + + CMT1B + + @@ -39277,6 +41343,12 @@ hmsn2a1 charcot-marie-tooth disease, axonal, type 2a1 + + + + CMT2A1 + + @@ -39292,6 +41364,12 @@ hmsn1a charcot-marie-tooth disease, demyelinating, type 1a + + + + CMT1A + + @@ -39404,6 +41482,12 @@ CHN1 + + + + CHN1 + + @@ -39433,6 +41517,12 @@ chloride channel, muscle CLCN1 + + + + CLCN1 + + @@ -39443,6 +41533,12 @@ chlorpropamide-alcohol flushing chlorpropamide-alcohol flushing + + + + CPAF + + @@ -39459,6 +41555,12 @@ hepatic ductular hypoplasia, syndromatic alagille syndrome 1 + + + + ALGS1 + + @@ -39482,6 +41584,12 @@ lipid transfer protein 1 CETP + + + + CETP + + @@ -39519,6 +41627,12 @@ CYP11A1 + + + + CYP11A1 + + @@ -39542,6 +41656,12 @@ CHAT + + + + CHAT + + @@ -39567,6 +41687,12 @@ CHKA + + + + CHKA + + @@ -39591,6 +41717,12 @@ CHRM3 + + + + CHRM3 + + @@ -39615,6 +41747,12 @@ CHRNA2 + + + + CHRNA2 + + @@ -39644,6 +41782,12 @@ cholinergic receptor, neuronal nicotinic, alpha polypeptide 3 CHRNA3 + + + + CHRNA3 + + @@ -39673,6 +41817,12 @@ cholinergic receptor, neuronal nicotinic, alpha polypeptide 4 CHRNA4 + + + + CHRNA4 + + @@ -39696,6 +41846,12 @@ cholinergic receptor, neuronal nicotinic, alpha polypeptide 5 CHRNA5 + + + + CHRNA5 + + @@ -39720,6 +41876,12 @@ CHRNB2 + + + + CHRNB2 + + @@ -39735,6 +41897,12 @@ chondrocalcinosis, familial articular chondrocalcinosis 2 + + + + CCAL2 + + @@ -39792,6 +41960,12 @@ VCAN + + + + VCAN + + @@ -39813,6 +41987,12 @@ hereditary progressive chorea without dementia chorea, benign hereditary + + + + BHC + + @@ -39851,6 +42031,12 @@ paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia 1 + + + + PNKD1 + + @@ -39871,6 +42057,12 @@ chromate resistance chromate resistance + + + + CHR + + @@ -39909,6 +42101,12 @@ This term has one or more labels that end with ', INCLUDED'. chymosin pseudogene + + + + CYMP + + @@ -39944,6 +42142,12 @@ CLTC + + + + CLTC + + @@ -39984,6 +42188,12 @@ tibial aplasia with split-hand/split-foot deformity split-hand/foot malformation with long bone deficiency 1 + + + + SHFLD1 + + @@ -39997,6 +42207,12 @@ vdws van der woude syndrome 1 + + + + VWS1 + + @@ -40009,6 +42225,12 @@ popliteal pterygium syndrome popliteal pterygium syndrome + + + + PPS + + @@ -40029,6 +42251,12 @@ orofacial cleft, nonsyndromic orofacial cleft 1 + + + + OFC1 + + @@ -40040,6 +42268,12 @@ cleft palate, isolated cleft palate, isolated + + + + CPI + + @@ -40077,6 +42311,12 @@ lagophthalmia with bilateral cleft 51p and palate blepharocheilodontic syndrome 1 + + + + BCDS1 + + @@ -40092,6 +42332,12 @@ This term has one or more labels that end with ', INCLUDED'. cleidocranial dysplasia 1 + + + + CLCD1 + + @@ -40123,6 +42369,12 @@ clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly + + + + CCF + + @@ -40135,6 +42387,12 @@ digital clubbing, isolated congenital digital clubbing, isolated congenital + + + + DIGC + + @@ -40173,6 +42431,12 @@ coxsackievirus b3 susceptibility coxsackievirus b3 susceptibility + + + + CXB3S + + @@ -40211,6 +42475,12 @@ This term has one or more labels that end with ', INCLUDED'. COL4A3 + + + + COL4A3 + + @@ -40250,6 +42520,12 @@ collagen, type iv, alpha-2 COL4A2 + + + + COL4A2 + + @@ -40266,6 +42542,12 @@ fcas familial cold autoinflammatory syndrome 1 + + + + FCAS1 + + @@ -40289,6 +42571,12 @@ COL10A1 + + + + COL10A1 + + @@ -40349,6 +42637,12 @@ long-chain collagen COL7A1 + + + + COL7A1 + + @@ -40398,6 +42692,12 @@ This term has one or more labels that end with ', INCLUDED'. COL4A1 + + + + COL4A1 + + @@ -40427,6 +42727,12 @@ collagen, type iv, alpha-4 COL4A4 + + + + COL4A4 + + @@ -40537,6 +42843,12 @@ This term has one or more labels that end with ', INCLUDED'. COL2A1 + + + + COL2A1 + + @@ -40604,6 +42916,12 @@ This term has one or more labels that end with ', INCLUDED'. COL1A1 + + + + COL1A1 + + @@ -40663,6 +42981,12 @@ collagen, type i, alpha-2 COL1A2 + + + + COL1A2 + + @@ -40702,6 +43026,12 @@ collagen, type iii, alpha-1 COL3A1 + + + + COL3A1 + + @@ -40726,6 +43056,12 @@ COL5A2 + + + + COL5A2 + + @@ -40740,6 +43076,12 @@ microphthalmia/coloboma 12 microphthalmia/coloboma 12 + + + + MCOPCB12 + + @@ -40771,6 +43113,12 @@ collagen, type ix, alpha-1 COL9A1 + + + + COL9A1 + + @@ -40799,6 +43147,12 @@ collagen, type v, alpha-1 COL5A1 + + + + COL5A1 + + @@ -40829,6 +43183,12 @@ short-chain collagen COL6A1 + + + + COL6A1 + + @@ -40863,6 +43223,12 @@ collagen, type vi, alpha-2 COL6A2 + + + + COL6A2 + + @@ -40897,6 +43263,12 @@ collagen, type vi, alpha-3 COL6A3 + + + + COL6A3 + + @@ -40925,6 +43297,12 @@ collagen, type viii, alpha-2 COL8A2 + + + + COL8A2 + + @@ -40953,6 +43331,12 @@ collagen, type ix, alpha-2 COL9A2 + + + + COL9A2 + + @@ -40987,6 +43371,12 @@ collagen, type ix, alpha-3 COL9A3 + + + + COL9A3 + + @@ -41033,6 +43423,12 @@ collagen, type xi, alpha-1 COL11A1 + + + + COL11A1 + + @@ -41079,6 +43475,12 @@ collagen, type xi, alpha-2 COL11A2 + + + + COL11A2 + + @@ -41126,6 +43528,12 @@ collagen, type xii, alpha-1 COL12A1 + + + + COL12A1 + + @@ -41174,6 +43582,12 @@ This term has one or more labels that end with ', INCLUDED'. COL18A1 + + + + COL18A1 + + @@ -41191,6 +43605,12 @@ renal-coloboma syndrome with macular abnormalities papillorenal syndrome + + + + PAPRS + + @@ -41214,6 +43634,12 @@ COL13A1 + + + + COL13A1 + + @@ -41242,6 +43668,12 @@ MMP2 + + + + MMP2 + + @@ -41270,6 +43702,12 @@ MMP9 + + + + MMP9 + + @@ -41316,6 +43754,12 @@ coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development + + + + COB1 + + @@ -41332,6 +43776,12 @@ lynch syndrome ii, formerly lynch syndrome 1 + + + + LYNCH1 + + @@ -41367,6 +43817,12 @@ mutl, e. coli, homolog of, 1 MLH1 + + + + MLH1 + + @@ -41438,6 +43894,12 @@ netrin receptor dcc DCC + + + + DCC + + @@ -41465,6 +43927,12 @@ branchiootic syndrome 2 branchiootic syndrome 2 + + + + BOS2 + + @@ -41499,6 +43967,12 @@ neutral endopeptidase, membrane-associated MME + + + + MME + + @@ -41525,6 +43999,12 @@ C1QA + + + + C1QA + + @@ -41550,6 +44030,12 @@ C1QB + + + + C1QB + + @@ -41575,6 +44061,12 @@ C1QC + + + + C1QC + + @@ -41604,6 +44096,12 @@ complement component c1s C1S + + + + C1S + + @@ -41637,6 +44135,12 @@ complement component receptor 1 CR1 + + + + CR1 + + @@ -41669,6 +44173,12 @@ epstein-barr virus receptor CR2 + + + + CR2 + + @@ -41709,6 +44219,12 @@ This term has one or more labels that end with ', INCLUDED'. C3 + + + + C3 + + @@ -41750,6 +44266,12 @@ slp, mouse, homolog of C4A + + + + C4A + + @@ -41776,6 +44298,12 @@ C4B + + + + C4B + + @@ -41812,6 +44340,12 @@ complement component 5 C5 + + + + C5 + + @@ -41839,6 +44373,12 @@ CD46 + + + + CD46 + + @@ -41867,6 +44407,12 @@ complement component 9 C9 + + + + C9 + + @@ -41891,6 +44437,12 @@ C8A + + + + C8A + + @@ -41916,6 +44468,12 @@ C8B + + + + C8B + + @@ -41930,6 +44488,12 @@ retinal cone-rod dystrophy cone-rod dystrophy 2 + + + + CORD2 + + @@ -42000,6 +44564,12 @@ gap junction protein, beta-2 GJB2 + + + + GJB2 + + @@ -42030,6 +44600,12 @@ gap junction protein, alpha-5 GJA5 + + + + GJA5 + + @@ -42085,6 +44661,12 @@ heart connexin GJA1 + + + + GJA1 + + @@ -42110,6 +44692,12 @@ GJA3 + + + + GJA3 + + @@ -42132,6 +44720,12 @@ contractural arachnodactyly, congenital contractural arachnodactyly, congenital + + + + CCA + + @@ -42156,6 +44750,12 @@ This term has one or more labels that end with ', INCLUDED'. seizures, benign familial neonatal, 1 + + + + BFNS1 + + @@ -42180,6 +44780,12 @@ seizures, benign familial neonatal, 2 seizures, benign familial neonatal, 2 + + + + BFNS2 + + @@ -42198,6 +44804,12 @@ febrile seizures, familial, 1 febrile seizures, familial, 1 + + + + FEB1 + + @@ -42230,6 +44842,12 @@ cpx deficiency coproporphyria, hereditary + + + + HCP + + @@ -42265,6 +44883,12 @@ CBFB + + + + CBFB + + @@ -42291,6 +44915,12 @@ cornea plana 1, autosomal dominant cornea plana 1, autosomal dominant + + + + CNA1 + + @@ -42335,6 +44965,12 @@ schnyder crystalline corneal dystrophy schnyder corneal dystrophy + + + + SCCD + + @@ -42349,6 +44985,12 @@ corneal dystrophy, microcystic corneal dystrophy, epithelial basement membrane + + + + EBMD + + @@ -42373,6 +45015,12 @@ fleck corneal dystrophy corneal dystrophy, fleck + + + + CFD + + @@ -42385,6 +45033,12 @@ granular corneal dystrophy, type 1 corneal dystrophy, groenouw type 1 + + + + CDGG1 + + @@ -42412,6 +45066,12 @@ posterior polymorphous corneal dystrophy corneal dystrophy, posterior polymorphous, 1 + + + + PPCD1 + + @@ -42438,6 +45098,12 @@ meesmann corneal dystrophy corneal dystrophy, meesmann, 1 + + + + MECD1 + + @@ -42450,6 +45116,12 @@ lcd corneal dystrophy, lattice type 1 + + + + CDL1 + + @@ -42461,6 +45133,12 @@ epithelial recurrent erosion dystrophy epithelial recurrent erosion dystrophy + + + + ERED + + @@ -42518,6 +45196,12 @@ human coronavirus sensitivity human coronavirus sensitivity + + + + HCVS + + @@ -42545,6 +45229,12 @@ typus degenerativus amstelodamensis cornelia lange lange syndrome 1 + + + + CDLS1 + + @@ -42579,6 +45269,12 @@ SERPINA6 + + + + SERPINA6 + + @@ -42589,6 +45285,12 @@ corticosterone side-chain isomerase corticosterone side-chain isomerase + + + + CSCI + + @@ -42626,6 +45328,12 @@ tacs spondylocostal dysostosis 5 + + + + SCDO5 + + @@ -42679,6 +45387,12 @@ This term has one or more labels that end with ', INCLUDED'. CYP2A6 + + + + CYP2A6 + + @@ -42716,6 +45430,12 @@ craniodiaphyseal dysplasia, autosomal dominant craniodiaphyseal dysplasia, autosomal dominant + + + + CDD + + @@ -42726,6 +45446,12 @@ craniofacial-deafness-hand syndrome craniofacial-deafness-hand syndrome + + + + CDHS + + @@ -42758,6 +45484,12 @@ craniometaphyseal dysplasia, jackson type craniometaphyseal dysplasia, autosomal dominant + + + + CMDD + + @@ -42780,6 +45512,12 @@ crs craniosynostosis 1 + + + + CRS1 + + @@ -42816,6 +45554,12 @@ muscle segment homeobox, drosophila, homolog of, 2 MSX2 + + + + MSX2 + + @@ -42827,6 +45571,12 @@ jackson-weiss syndrome jackson-weiss syndrome + + + + JWS + + @@ -42843,6 +45593,12 @@ hydrocephalus, autosomal dominant hydrocephalus, autosomal dominant + + + + HDCPH1 + + @@ -42859,6 +45615,12 @@ creatine kinase, brain type, ectopic expression of creatine kinase, brain type, ectopic expression of + + + + CKBE + + @@ -42885,6 +45647,12 @@ This term has one or more labels that end with ', INCLUDED'. creutzfeldt-jakob disease + + + + CJD + + @@ -42964,6 +45732,12 @@ cryptophthalmos, unilateral or bilateral, isolated cryptophthalmos, unilateral or bilateral, isolated + + + + CRYPTOP + + @@ -42989,6 +45763,12 @@ CRYAA + + + + CRYAA + + @@ -43031,6 +45811,12 @@ heat-shock protein beta-5 CRYAB + + + + CRYAB + + @@ -43056,6 +45842,12 @@ CRYBA1 + + + + CRYBA1 + + @@ -43082,6 +45874,12 @@ CRYBB2 + + + + CRYBB2 + + @@ -43106,6 +45904,12 @@ CRYBB3 + + + + CRYBB3 + + @@ -43129,6 +45933,12 @@ CRYBA4 + + + + CRYBA4 + + @@ -43153,6 +45963,12 @@ CRYGB + + + + CRYGB + + @@ -43177,6 +45993,12 @@ CRYGC + + + + CRYGC + + @@ -43201,6 +46023,12 @@ CRYGD + + + + CRYGD + + @@ -43233,6 +46061,12 @@ phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1A + + + + PCYT1A + + @@ -43244,6 +46078,12 @@ cutis laxa, autosomal dominant 1 cutis laxa, autosomal dominant 1 + + + + ADCL1 + + @@ -43284,6 +46124,12 @@ CRYGS + + + + CRYGS + + @@ -43307,6 +46153,12 @@ CRYM + + + + CRYM + + @@ -43319,6 +46171,12 @@ cutis gyrata syndrome of beare and stevenson beare-stevenson cutis gyrata syndrome + + + + BSTVS + + @@ -43344,6 +46202,12 @@ PDE3A + + + + PDE3A + + @@ -43370,6 +46234,12 @@ CREB1 + + + + CREB1 + + @@ -43396,6 +46266,12 @@ CNGA1 + + + + CNGA1 + + @@ -43421,6 +46297,12 @@ CDK4 + + + + CDK4 + + @@ -43446,6 +46328,12 @@ CNP + + + + CNP + + @@ -43471,6 +46359,12 @@ CDK5 + + + + CDK5 + + @@ -43494,6 +46388,12 @@ CCND2 + + + + CCND2 + + @@ -43526,6 +46426,12 @@ PPIB + + + + PPIB + + @@ -43571,6 +46477,12 @@ CARS1 + + + + CARS1 + + @@ -43597,6 +46509,12 @@ CTPS1 + + + + CTPS1 + + @@ -43622,6 +46540,12 @@ COX4I1 + + + + COX4I1 + + @@ -43646,6 +46570,12 @@ COX8A + + + + COX8A + + @@ -43687,6 +46617,12 @@ interleukin 10 receptor, beta IL10RB + + + + IL10RB + + @@ -43736,6 +46672,12 @@ This term has one or more labels that end with ', INCLUDED'. CTLA4 + + + + CTLA4 + + @@ -43759,6 +46701,12 @@ cytochrome p450, subfamily iib, polypeptide 6 CYP2B6 + + + + CYP2B6 + + @@ -43785,6 +46733,12 @@ KRT4 + + + + KRT4 + + @@ -43827,6 +46781,12 @@ CYCS + + + + CYCS + + @@ -43850,6 +46810,12 @@ CYC1 + + + + CYC1 + + @@ -43862,6 +46828,12 @@ cytochrome c oxidase, subunit viia, polypeptide 3 cytochrome c oxidase, subunit 7a2, pseudogene 2 + + + + COX7A2P2 + + @@ -43873,6 +46845,12 @@ mitochondrial complex 3 deficiency, nuclear type 1 mitochondrial complex 3 deficiency, nuclear type 1 + + + + MC3DN1 + + @@ -43902,6 +46880,12 @@ CYP3A4 + + + + CYP3A4 + + @@ -43931,6 +46915,12 @@ cytochrome p450 reductase POR + + + + POR + + @@ -43956,6 +46946,12 @@ p450c2c CYP2C19 + + + + CYP2C19 + + @@ -43981,6 +46977,12 @@ p450db1 CYP2D6 + + + + CYP2D6 + + @@ -44018,6 +47020,12 @@ This term has one or more labels that end with ', INCLUDED'. CYP11B2 + + + + CYP11B2 + + @@ -44043,6 +47051,12 @@ COX6B1 + + + + COX6B1 + + @@ -44078,6 +47092,12 @@ interleukin 10 IL10 + + + + IL10 + + @@ -44105,6 +47125,12 @@ This term has one or more labels that end with ', INCLUDED'. darier-white disease + + + + DAR + + @@ -44137,6 +47163,12 @@ deafness, congenital, with onychodystrophy, autosomal dominant deafness, congenital, with onychodystrophy, autosomal dominant + + + + DDOD + + @@ -44159,6 +47191,12 @@ vohwinkel syndrome vohwinkel syndrome + + + + VOWNKL + + @@ -44199,6 +47237,12 @@ konigsmark syndrome deafness, autosomal dominant 1, with or without thrombocytopenia + + + + DFNA1 + + @@ -44282,6 +47326,12 @@ decay-accelerating factor for complement CD55 + + + + CD55 + + @@ -44319,6 +47369,12 @@ DCN + + + + DCN + + @@ -44350,6 +47406,12 @@ This term has one or more labels that end with ', INCLUDED'. DEK + + + + DEK + + @@ -44374,6 +47436,12 @@ porphobilinogen synthase ALAD + + + + ALAD + + @@ -44406,6 +47474,12 @@ dementia, hereditary multiinfarct type cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 + + + + CADASIL1 + + @@ -44430,6 +47504,12 @@ unerupted second primary molar failure of tooth eruption, primary + + + + PFE + + @@ -44444,6 +47524,12 @@ naito-oyanagi disease dentatorubral-pallidoluysian atrophy + + + + DRPLA + + @@ -44471,6 +47557,12 @@ This term has one or more labels that end with ', INCLUDED'. dentin dysplasia, type 1 + + + + DTDP1 + + @@ -44486,6 +47578,12 @@ pulpal dysplasia dentin dysplasia, type 2 + + + + DTDP2 + + @@ -44523,6 +47621,12 @@ manic-depressive psychosis, autosomal major affective disorder 1 + + + + MAFD1 + + @@ -44567,6 +47671,12 @@ This term has one or more labels that end with ', INCLUDED'. DSPP + + + + DSPP + + @@ -44583,6 +47693,12 @@ opalescent teeth without osteogenesis imperfecta dentinogenesis imperfecta 1 + + + + DGI1 + + @@ -44618,6 +47734,12 @@ DNASE1 + + + + DNASE1 + + @@ -44675,6 +47797,12 @@ ridges-off-the-end syndrome dermal ridges-off-the-end + + + + ROES + + @@ -44712,6 +47840,12 @@ dermatopathia pigmentosa reticularis dermatopathia pigmentosa reticularis + + + + DPR + + @@ -44745,6 +47879,12 @@ vibratory urticaria vibratory urticaria + + + + VBU + + @@ -44789,6 +47929,12 @@ desmosomal glycoprotein ii/iii DSC2 + + + + DSC2 + + @@ -44838,6 +47984,12 @@ This term has one or more labels that end with ', INCLUDED'. DSP + + + + DSP + + @@ -44881,6 +48033,12 @@ desmin DES + + + + DES + + @@ -44910,6 +48068,12 @@ pemphigus foliaceus antigen DSG1 + + + + DSG1 + + @@ -44939,6 +48103,12 @@ human desmoglein colon DSG2 + + + + DSG2 + + @@ -44985,6 +48155,12 @@ diabetes insipidus, nephrogenic, type 2 diabetes insipidus, nephrogenic, 2, autosomal + + + + NDI2 + + @@ -44997,6 +48173,12 @@ mody, type 1 maturity-onset diabetes of the young, type 1 + + + + MODY1 + + @@ -45009,6 +48191,12 @@ mody, type 2 maturity-onset diabetes of the young, type 2 + + + + MODY2 + + @@ -45021,6 +48209,12 @@ type 1 diabetes mellitus 2 type 1 diabetes mellitus 2 + + + + T1D2 + + @@ -45057,6 +48251,12 @@ + + + + + + @@ -45093,6 +48293,12 @@ + + + + + + @@ -45158,6 +48364,12 @@ This term has one or more labels that end with ', INCLUDED'. type 2 diabetes mellitus + + + + T2D + + @@ -45181,6 +48393,12 @@ This term has one or more labels that end with ', INCLUDED'. NQO1 + + + + NQO1 + + @@ -45243,6 +48461,12 @@ DHFR + + + + DHFR + + @@ -45276,6 +48500,12 @@ DLST + + + + DLST + + @@ -45301,6 +48531,12 @@ DHODH + + + + DHODH + + @@ -45327,6 +48563,12 @@ CYP24A1 + + + + CYP24A1 + + @@ -45364,6 +48606,12 @@ PCBD1 + + + + PCBD1 + + @@ -45413,6 +48661,12 @@ dppx DPP6 + + + + DPP6 + + @@ -45432,6 +48686,12 @@ heparin-binding egf-like growth factor HBEGF + + + + HBEGF + + @@ -45465,6 +48725,12 @@ This term has one or more labels that end with ', INCLUDED'. multiple sclerosis, susceptibility to + + + + MS + + @@ -45530,6 +48796,12 @@ xpd gene ERCC2 + + + + ERCC2 + + @@ -45554,6 +48826,12 @@ DNASE2 + + + + DNASE2 + + @@ -45561,10 +48839,22 @@ D1Z1 + HS3 dna, satellite, 3 - hs3 dna, satellite, 3 + + + + D1Z1 + + + + + + HS3 + + @@ -45596,6 +48886,12 @@ cxxc finger protein 9 DNMT1 + + + + DNMT1 + + @@ -45621,6 +48917,12 @@ ERCC1 + + + + ERCC1 + + @@ -45655,6 +48957,12 @@ LIG1 + + + + LIG1 + + @@ -45682,6 +48990,12 @@ This term has one or more labels that end with ', INCLUDED'. TOP1 + + + + TOP1 + + @@ -45699,6 +49013,12 @@ topoisomerase, dna, ii, alpha TOP2A + + + + TOP2A + + @@ -45722,6 +49042,12 @@ TOP2B + + + + TOP2B + + @@ -45769,6 +49095,12 @@ dopamine receptor d3 DRD3 + + + + DRD3 + + @@ -45792,6 +49124,12 @@ dopamine receptor d4 DRD4 + + + + DRD4 + + @@ -45821,6 +49159,12 @@ dopamine receptor d5 DRD5 + + + + DRD5 + + @@ -45851,6 +49195,12 @@ solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 SLC6A3 + + + + SLC6A3 + + @@ -45885,6 +49235,12 @@ This term has one or more labels that end with ', INCLUDED'. calvarial doughnut lesions with bone fragility + + + + CDL + + @@ -45898,6 +49254,12 @@ malattia leventinese doyne honeycomb retinal dystrophy + + + + DHRD + + @@ -45922,6 +49284,12 @@ SLC26A3 + + + + SLC26A3 + + @@ -45955,6 +49323,12 @@ retraction syndrome duane retraction syndrome 1 + + + + DURS1 + + @@ -46023,6 +49397,12 @@ kenny-caffey syndrome, type 2 kenny-caffey syndrome, type 2 + + + + KCS2 + + @@ -46056,6 +49436,12 @@ This term has one or more labels that end with ', INCLUDED'. leri-weill dyschondrosteosis + + + + LWD + + @@ -46079,6 +49465,12 @@ symmetric dyschromatosis of the extremities dyschromatosis symmetrica hereditaria + + + + DSH + + @@ -46096,6 +49488,12 @@ dyschromatosis universalis hereditaria 1 dyschromatosis universalis hereditaria 1 + + + + DUH1 + + @@ -46108,6 +49506,12 @@ dyskeratosis congenita, scoggins type dyskeratosis congenita, autosomal dominant 1 + + + + DKCA1 + + @@ -46125,6 +49529,12 @@ dyskeratosis, hereditary benign intraepithelial dyskeratosis, hereditary benign intraepithelial + + + + HBID + + @@ -46140,6 +49550,12 @@ This term has one or more labels that end with ', INCLUDED'. dyslexia, susceptibility to, 1 + + + + DYX1 + + @@ -46167,6 +49583,12 @@ This term has one or more labels that end with ', INCLUDED'. dementia, lewy body + + + + DLB + + @@ -46210,6 +49632,12 @@ early-onset torsion dystonia dystonia 1, torsion, autosomal dominant + + + + DYT1 + + @@ -46223,6 +49651,12 @@ whispering dysphonia, hereditary dystonia 4, torsion, autosomal dominant + + + + DYT4 + + @@ -46239,6 +49673,12 @@ paroxysmal kinesigenic dyskinesia episodic kinesigenic dyskinesia 1 + + + + EKD1 + + @@ -46256,6 +49696,12 @@ segawa syndrome, autosomal dominant dystonia, dopa-responsive + + + + DRD + + @@ -46268,6 +49714,12 @@ dystonia-parkinsonism, rapid-onset dystonia 12 + + + + DYT12 + + @@ -46302,6 +49754,12 @@ This term has one or more labels that end with ', INCLUDED'. DAG1 + + + + DAG1 + + @@ -46326,6 +49784,12 @@ SNRPE + + + + SNRPE + + @@ -46483,6 +49947,12 @@ krox20 EGR2 + + + + EGR2 + + @@ -46502,6 +49972,12 @@ echo virus 11 sensitivity echo virus 11 sensitivity + + + + E11S + + @@ -46528,6 +50004,12 @@ NT5E + + + + NT5E + + @@ -46550,6 +50032,12 @@ rapp-hodgkin syndrome rapp-hodgkin syndrome + + + + RHS + + @@ -46562,6 +50050,12 @@ ectodermal dysplasia, hypohidrotic, autosomal dominant ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant + + + + ECTD10A + + @@ -46613,6 +50107,12 @@ ectopia lentis 1, isolated, autosomal dominant ectopia lentis 1, isolated, autosomal dominant + + + + ECTOL1 + + @@ -46678,6 +50178,12 @@ eec syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 + + + + EEC1 + + @@ -46703,6 +50209,12 @@ ehlers-danlos syndrome, type i, formerly ehlers-danlos syndrome, classic type, 1 + + + + EDSCL1 + + @@ -46730,6 +50242,12 @@ ehlers-danlos syndrome, type ii, formerly ehlers-danlos syndrome, classic type, 2 + + + + EDSCL2 + + @@ -46744,6 +50262,12 @@ ehlers-danlos syndrome, type 3 ehlers-danlos syndrome, hypermobility type + + + + EDSHMB + + @@ -46760,6 +50284,12 @@ ehlers-danlos syndrome, vascular type ehlers-danlos syndrome, vascular type + + + + EDSVASC + + @@ -46775,6 +50305,12 @@ ehlers-danlos syndrome, type viia, autosomal dominant ehlers-danlos syndrome, arthrochalasia type, 1 + + + + EDSARTH1 + + @@ -46806,6 +50342,12 @@ xylosylprotein 4-beta-galactosyltransferase deficiency ehlers-danlos syndrome, spondylodysplastic type, 1 + + + + EDSSPD1 + + @@ -46833,6 +50375,12 @@ ehlers-danlos syndrome, type 8 ehlers-danlos syndrome, periodontal type, 1 + + + + EDSPD1 + + @@ -46856,6 +50404,12 @@ miescher elastoma elastosis perforans serpiginosa + + + + EPS + + @@ -46891,6 +50445,12 @@ protease, serine, bone marrow ELANE + + + + ELANE + + @@ -46919,6 +50479,12 @@ elastin ELN + + + + ELN + + @@ -46946,6 +50512,12 @@ electroencephalographic pattern, beta frequency, quantitative trait locus electroencephalographic pattern, beta frequency, quantitative trait locus + + + + EEGBQTL + + @@ -46996,6 +50568,12 @@ ETFB + + + + ETFB + + @@ -47021,6 +50599,12 @@ EPB41 + + + + EPB41 + + @@ -47040,6 +50624,12 @@ elliptocytosis, rhesus-unlinked type elliptocytosis 2 + + + + EL2 + + @@ -47065,6 +50655,12 @@ EEF2 + + + + EEF2 + + @@ -47089,6 +50685,12 @@ RPS14 + + + + RPS14 + + @@ -47116,6 +50718,12 @@ This term has one or more labels that end with ', INCLUDED'. beckwith-wiedemann syndrome + + + + BWS + + @@ -47145,6 +50753,12 @@ elastin microfibril interfacer 1 EMILIN1 + + + + EMILIN1 + + @@ -47164,6 +50778,12 @@ emphysema, congenital lobar emphysema, congenital lobar + + + + CLE + + @@ -47176,6 +50796,12 @@ lms lateral meningocele syndrome + + + + LMNS + + @@ -47202,6 +50828,12 @@ amelogenesis imperfecta, type 3a amelogenesis imperfecta, type 3a + + + + AI3A + + @@ -47228,6 +50860,12 @@ This term has one or more labels that end with ', INCLUDED'. multiple endocrine neoplasia, type 1 + + + + MEN1 + + @@ -47239,6 +50877,12 @@ oncogene hlm2 endogenous retroviral pol-like sequence-1 + + + + ERPL1 + + @@ -47263,6 +50907,12 @@ ENG + + + + ENG + + @@ -47306,6 +50956,12 @@ TYMP + + + + TYMP + + @@ -47336,6 +50992,12 @@ ANXA5 + + + + ANXA5 + + @@ -47367,6 +51029,12 @@ This term has one or more labels that end with ', INCLUDED'. EDN1 + + + + EDN1 + + @@ -47396,6 +51064,12 @@ et3 EDN3 + + + + EDN3 + + @@ -47426,6 +51100,12 @@ etra EDNRA + + + + EDNRA + + @@ -47462,6 +51142,12 @@ etrb EDNRB + + + + EDNRB + + @@ -47485,6 +51171,12 @@ EN1 + + + + EN1 + + @@ -47499,6 +51191,12 @@ progressive diaphyseal dysplasia camurati-engelmann disease + + + + CAEND + + @@ -47523,6 +51221,12 @@ GATA3 + + + + GATA3 + + @@ -47548,6 +51252,12 @@ PDYN + + + + PDYN + + @@ -47573,6 +51283,12 @@ ENO3 + + + + ENO3 + + @@ -47596,6 +51312,12 @@ EPX + + + + EPX + + @@ -47693,6 +51415,12 @@ EGF + + + + EGF + + @@ -47728,6 +51456,12 @@ This term has one or more labels that end with ', INCLUDED'. EGFR + + + + EGFR + + @@ -47749,6 +51483,12 @@ transient bullous dermolysis of the newborn transient bullous dermolysis of the newborn + + + + TBDN + + @@ -47765,6 +51505,12 @@ This term has one or more labels that end with ', INCLUDED'. epidermolysis bullosa dystrophica, autosomal dominant + + + + DDEB + + @@ -47779,6 +51525,12 @@ epidermolysis bullosa simplex, dowling-meara type epidermolysis bullosa simplex 1a, generalized severe + + + + EBS1A + + @@ -47793,6 +51545,12 @@ epidermolysis bullosa simplex 1c, weber-cockayne type epidermolysis bullosa simplex 1c, localized + + + + EBS1C + + @@ -47826,6 +51584,12 @@ epidermolysis bullosa simplex 1b, koebner type epidermolysis bullosa simplex 1b, generalized intermediate + + + + EBS1B + + @@ -47838,6 +51602,12 @@ epidermolysis bullosa simplex, ogna type epidermolysis bullosa simplex 5a, ogna type + + + + EBS5A + + @@ -47851,6 +51621,12 @@ speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering epidermolysis bullosa simplex 2f, with mottled pigmentation + + + + EBS2F + + @@ -47871,6 +51647,12 @@ epilepsy, benign occipital epilepsy, benign occipital + + + + BOE + + @@ -47892,6 +51674,12 @@ ppr photoparoxysmal response 1 + + + + PPR1 + + @@ -47916,6 +51704,12 @@ This term has one or more labels that end with ', INCLUDED'. epiphyseal dysplasia, multiple, 1 + + + + EDM1 + + @@ -47926,6 +51720,12 @@ epiphyseal dysplasia, multiple, with myopia and conductive deafness epiphyseal dysplasia, multiple, with myopia and conductive deafness + + + + EDMMD + + @@ -47970,6 +51770,12 @@ multiple self-healing squamous epithelioma, susceptibility to multiple self-healing squamous epithelioma, susceptibility to + + + + MSSE + + @@ -47993,6 +51799,12 @@ EPHX2 + + + + EPHX2 + + @@ -48004,6 +51816,12 @@ epstein-barr virus integration site epstein-barr virus insertion site 1 + + + + EBVS1 + + @@ -48041,6 +51859,12 @@ NR2F1 + + + + NR2F1 + + @@ -48054,6 +51878,12 @@ faa4 aortic aneurysm, familial thoracic 4 + + + + AAT4 + + @@ -48110,6 +51940,12 @@ polycythemia, primary familial and congenital erythrocytosis, familial, 1 + + + + ECYT1 + + @@ -48145,6 +51981,12 @@ erythropoietin EPO + + + + EPO + + @@ -48168,6 +52010,12 @@ EPOR + + + + EPOR + + @@ -48180,6 +52028,12 @@ leukemia, acute myelogenous, m6 erythroleukemia, familial, susceptibility to + + + + FERLK + + @@ -48192,6 +52046,12 @@ spinocerebellar ataxia 34 spinocerebellar ataxia 34 + + + + SCA34 + + @@ -48211,6 +52071,12 @@ This term has one or more labels that end with ', INCLUDED'. erythrokeratodermia variabilis et progressiva 1 + + + + EKVP1 + + @@ -48277,6 +52143,12 @@ esterase B esterase B + + + + ESB + + @@ -48287,6 +52159,12 @@ esterase c esterase c + + + + ESC + + @@ -48346,6 +52224,12 @@ estrogen receptor, alpha ESR1 + + + + ESR1 + + @@ -48373,6 +52257,12 @@ EIF4E + + + + EIF4E + + @@ -48410,6 +52300,12 @@ This term has one or more labels that end with ', INCLUDED'. EWSR1 + + + + EWSR1 + + @@ -48450,6 +52346,12 @@ xpb gene ERCC3 + + + + ERCC3 + + @@ -48486,6 +52388,12 @@ xpf gene ERCC4 + + + + ERCC4 + + @@ -48520,6 +52428,12 @@ xpg gene ERCC5 + + + + ERCC5 + + @@ -48539,6 +52453,12 @@ Cockayne syndrome B Cockayne syndrome B + + + + CSB + + @@ -48570,6 +52490,12 @@ solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter), member 1 SLC1A1 + + + + SLC1A1 + + @@ -48604,6 +52530,12 @@ osteochondromatosis exostoses, multiple, type 1 + + + + EXT1 + + @@ -48615,6 +52547,12 @@ exostoses, multiple, type 2 exostoses, multiple, type 2 + + + + EXT2 + + @@ -48680,6 +52618,12 @@ This term has one or more labels that end with ', INCLUDED'. exudative vitreoretinopathy 1 + + + + EVR1 + + @@ -48762,6 +52706,12 @@ CFD + + + + CFD + + @@ -48807,6 +52757,12 @@ This term has one or more labels that end with ', INCLUDED'. CFH + + + + CFH + + @@ -48837,6 +52793,12 @@ h factor-like 1 CFHR1 + + + + CFHR1 + + @@ -48889,6 +52851,12 @@ familial multiple coagulation factor deficiency 2 factor 8 and factor ix, combined deficiency of + + + + F8F9D + + @@ -48959,6 +52927,12 @@ transglutaminase, plasma F13A1 + + + + F13A1 + + @@ -48984,6 +52958,12 @@ F13B + + + + F13B + + @@ -49000,6 +52980,12 @@ renal fanconi syndrome fanconi renotubular syndrome 1 + + + + FRTS1 + + @@ -49034,6 +53020,12 @@ FDPS + + + + FDPS + + @@ -49097,6 +53089,12 @@ tumor necrosis factor receptor superfamily, member 6 FAS + + + + FAS + + @@ -49131,6 +53129,12 @@ tumor necrosis factor ligand superfamily, member 6 FASLG + + + + FASLG + + @@ -49190,6 +53194,12 @@ fthl6 FTH1 + + + + FTH1 + + @@ -49201,6 +53211,12 @@ femoral-facial syndrome femoral-facial syndrome + + + + FFS + + @@ -49235,6 +53251,12 @@ ferritin light chain FTL + + + + FTL + + @@ -49300,6 +53322,12 @@ fibrillin 1 FBN1 + + + + FBN1 + + @@ -49335,6 +53363,12 @@ fibrinogen--alpha polypeptide chain FGA + + + + FGA + + @@ -49364,6 +53398,12 @@ fibrinogen--beta polypeptide chain FGB + + + + FGB + + @@ -49393,6 +53433,12 @@ fibrinogen--gamma polypeptide chain FGG + + + + FGG + + @@ -49504,6 +53550,12 @@ This term has one or more labels that end with ', INCLUDED'. FGFR3 + + + + FGFR3 + + @@ -49521,6 +53573,12 @@ tyrosine kinase related to fibroblast growth factor receptor FGFR4 + + + + FGFR4 + + @@ -49552,6 +53610,12 @@ fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva + + + + FOP + + @@ -49566,6 +53630,12 @@ hornstein-knickenberg syndrome birt-hogg-dube syndrome 1 + + + + BHD1 + + @@ -49579,6 +53649,12 @@ This term has one or more labels that end with ', INCLUDED'. desmoid disease, hereditary + + + + DESMD + + @@ -49593,6 +53669,12 @@ gingf fibromatosis, gingival, 1 + + + + GINGF1 + + @@ -49627,6 +53709,12 @@ microduplication 17q24.2-q24.3 syndrome hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia + + + + HTC3 + + @@ -49640,6 +53728,12 @@ zimmermann-laband syndrome 1 zimmermann-laband syndrome 1 + + + + ZLS1 + + @@ -49662,6 +53756,12 @@ fibromuscular dysplasia, arterial fibromuscular dysplasia, arterial + + + + FMDA + + @@ -49692,6 +53792,12 @@ large, external, transformation-sensitive protein FN1 + + + + FN1 + + @@ -49702,6 +53808,12 @@ fibronectin-like 2 fibronectin-like 2 + + + + FNL2 + + @@ -49726,6 +53838,12 @@ This term has one or more labels that end with ', INCLUDED'. fibrosis of extraocular muscles, congenital, 1 + + + + CFEOM1 + + @@ -49743,6 +53861,12 @@ This term has one or more labels that end with ', INCLUDED'. laurin-sandrow syndrome + + + + LSS + + @@ -49774,6 +53898,12 @@ fibulin 1 FBLN1 + + + + FBLN1 + + @@ -49802,6 +53932,12 @@ mental retardation, autosomal dominant 12 coffin-siris syndrome 1 + + + + CSS1 + + @@ -49832,6 +53968,12 @@ This term has one or more labels that end with ', INCLUDED'. FLG + + + + FLG + + @@ -49852,6 +53994,12 @@ fingerprints, absence of adermatoglyphia + + + + ADERM + + @@ -49876,6 +54024,12 @@ lcata deficiency fish-eye disease + + + + FED + + @@ -49900,6 +54054,12 @@ FMO3 + + + + FMO3 + + @@ -49910,6 +54070,12 @@ floating-harbor syndrome floating-harbor syndrome + + + + FLHS + + @@ -50002,6 +54168,12 @@ This term has one or more labels that end with ', INCLUDED'. FGFR1 + + + + FGFR1 + + @@ -50032,6 +54204,12 @@ stem cell tyrosine kinase 1 FLT3 + + + + FLT3 + + @@ -50067,6 +54245,12 @@ vascular endothelial growth factor receptor 3 FLT4 + + + + FLT4 + + @@ -50103,6 +54287,12 @@ FOLR1 + + + + FOLR1 + + @@ -50121,12 +54311,6 @@ - - - - - - @@ -50138,6 +54322,12 @@ fsh receptor FSHR + + + + FSHR + + @@ -50163,6 +54353,12 @@ KDSR + + + + KDSR + + @@ -50198,6 +54394,12 @@ hereditary symmetrical aplastic nevi of temples focal facial dermal dysplasia 1, brauer type + + + + FFDD1 + + @@ -50210,6 +54412,12 @@ foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract foveal hypoplasia 1 + + + + FVH1 + + @@ -50234,6 +54442,12 @@ FSHB + + + + FSHB + + @@ -50263,6 +54477,12 @@ FOXO1A + + + + FOXO1A + + @@ -50287,6 +54507,12 @@ retinal pigment epithelial dystrophy, central macular dystrophy, retinal, 1, north carolina type + + + + MCDR1 + + @@ -50325,6 +54551,12 @@ fragile site, distamycin a type, rare, fra(16)(q22.1) fragile site, distamycin a type, rare, fra(16)(q22.1) + + + + FRA16B + + @@ -50369,6 +54601,12 @@ fragile site 10q25 fragile site 10q25 + + + + FRA10B + + @@ -50473,6 +54711,12 @@ median facial cleft syndrome frontonasal dysplasia 1 + + + + FND1 + + @@ -50494,6 +54738,12 @@ corneal dystrophy, fuchs endothelial, early-onset corneal dystrophy, fuchs endothelial, 1 + + + + FECD1 + + @@ -50527,6 +54777,12 @@ FUT6 + + + + FUT6 + + @@ -50559,6 +54815,12 @@ This term has one or more labels that end with ', INCLUDED'. FH + + + + FH + + @@ -50606,6 +54868,12 @@ sorsby fundus dystrophy sorsby fundus dystrophy + + + + SFD + + @@ -50641,6 +54909,12 @@ GALM + + + + GALM + + @@ -50673,6 +54947,12 @@ GAL + + + + GAL + + @@ -50727,6 +55007,12 @@ This term has one or more labels that end with ', INCLUDED'. B4GALT1 + + + + B4GALT1 + + @@ -50772,6 +55058,12 @@ This term has one or more labels that end with ', INCLUDED'. FUS + + + + FUS + + @@ -50791,6 +55083,12 @@ immunoglobulin a, selective deficiency of immunoglobulin a deficiency 1 + + + + IGAD1 + + @@ -50830,6 +55128,12 @@ gamma-aminobutyric acid receptor, alpha-2 GABRA2 + + + + GABRA2 + + @@ -50854,6 +55158,12 @@ GABRA5 + + + + GABRA5 + + @@ -50880,6 +55190,12 @@ ABAT + + + + ABAT + + @@ -50909,6 +55225,12 @@ gamma-aminobutyric acid receptor, alpha-1 GABRA1 + + + + GABRA1 + + @@ -50933,6 +55255,12 @@ GABRD + + + + GABRD + + @@ -50962,6 +55290,12 @@ gamma-aminobutyric acid receptor, gamma-2 GABRG2 + + + + GABRG2 + + @@ -50988,6 +55322,12 @@ SLC6A1 + + + + SLC6A1 + + @@ -51016,6 +55356,12 @@ gamma-glutamyl carboxylase GGCX + + + + GGCX + + @@ -51032,6 +55378,12 @@ gamma-glutamyltransferase 2 GGT2 + + + + GGT2 + + @@ -51056,6 +55408,12 @@ GABRB1 + + + + GABRB1 + + @@ -51085,6 +55443,12 @@ gamma-aminobutyric acid receptor, beta-3 GABRB3 + + + + GABRB3 + + @@ -51109,6 +55473,12 @@ neuromyotonia and axonal neuropathy, autosomal recessive neuromyotonia and axonal neuropathy, autosomal recessive + + + + NMAN + + @@ -51134,6 +55504,12 @@ LRRC32 + + + + LRRC32 + + @@ -51157,6 +55533,12 @@ This term has one or more labels that end with ', INCLUDED'. diffuse gastric and lobular breast cancer syndrome + + + + DGLBC + + @@ -51223,6 +55605,12 @@ TACSTD2 + + + + TACSTD2 + + @@ -51263,6 +55651,12 @@ gata-binding protein 2 GATA2 + + + + GATA2 + + @@ -51286,6 +55680,12 @@ GSN + + + + GSN + + @@ -51344,6 +55744,12 @@ This term has one or more labels that end with ', INCLUDED'. gerstmann-straussler disease + + + + GSD + + @@ -51369,6 +55775,12 @@ This term has one or more labels that end with ', INCLUDED'. melanocytic nevus syndrome, congenital + + + + CMNS + + @@ -51390,6 +55802,12 @@ gigantiform cementoma, familial gigantiform cementoma, familial + + + + FGC + + @@ -51422,6 +55840,12 @@ This term has one or more labels that end with ', INCLUDED'. gilles lange 50a tourette syndrome + + + + GTS + + @@ -51436,6 +55860,12 @@ iris hypoplasia with early-onset glaucoma, autosomal dominant anterior segment dysgenesis 4 + + + + ASGD4 + + @@ -51470,6 +55900,12 @@ This term has one or more labels that end with ', INCLUDED'. glaucoma 1, open angle, a + + + + GLC1A + + @@ -51483,6 +55919,12 @@ This term has one or more labels that end with ', INCLUDED'. glaucoma, primary open angle + + + + POAG + + @@ -51524,6 +55966,12 @@ GFAP + + + + GFAP + + @@ -51554,6 +56002,12 @@ This term has one or more labels that end with ', INCLUDED'. glioma susceptibility 1 + + + + GLM1 + + @@ -51582,6 +56036,12 @@ tubulointerstitial kidney disease, autosomal dominant, 3 renal cysts and diabetes syndrome + + + + RCAD + + @@ -51594,6 +56054,12 @@ telangiectatic membranoproliferative glomerulonephritis hypotrichosis-lymphedema-telangiectasia-renal defect syndrome + + + + HLTRS + + @@ -51613,6 +56079,12 @@ lobular glomerulopathy, familial glomerulopathy with fibronectin deposits 1 + + + + GFND1 + + @@ -51642,6 +56114,12 @@ mpv17, mouse, homolog of MPV17 + + + + MPV17 + + @@ -51667,6 +56145,12 @@ venous malformations with glomus cells glomuvenous malformations + + + + GVM + + @@ -51690,6 +56174,12 @@ GCGR + + + + GCGR + + @@ -51724,6 +56214,12 @@ NR3C1 + + + + NR3C1 + + @@ -51736,6 +56232,12 @@ glucocorticoid receptor-like 1 glucocorticoid receptor-like 1 + + + + GRLL1 + + @@ -51788,6 +56290,12 @@ liver glucokinase GCK + + + + GCK + + @@ -51817,6 +56325,12 @@ H6PD + + + + H6PD + + @@ -51836,6 +56350,12 @@ glucose-6-phosphate dehydrogenase-like glucose-6-phosphate dehydrogenase-like + + + + G6PDL + + @@ -51861,6 +56381,12 @@ GLUD1 + + + + GLUD1 + + @@ -51911,6 +56437,12 @@ solute carrier family 2 (facilitated glucose transporter), member 1 SLC2A1 + + + + SLC2A1 + + @@ -51935,6 +56467,12 @@ GOT2 + + + + GOT2 + + @@ -51965,6 +56503,12 @@ solute carrier family 2 (facilitated glucose transporter), member 2 SLC2A2 + + + + SLC2A2 + + @@ -51989,6 +56533,12 @@ GOT1 + + + + GOT1 + + @@ -52014,6 +56564,12 @@ GPT2 + + + + GPT2 + + @@ -52059,6 +56615,12 @@ glutamate receptor, ionotropic, kainate 2 GRIK2 + + + + GRIK2 + + @@ -52084,6 +56646,12 @@ GRIA4 + + + + GRIA4 + + @@ -52109,6 +56677,12 @@ GRIA2 + + + + GRIA2 + + @@ -52139,6 +56713,12 @@ glutamate receptor, ionotropic, ampa 1 GRIA1 + + + + GRIA1 + + @@ -52175,6 +56755,12 @@ nr1 GRIN1 + + + + GRIN1 + + @@ -52218,6 +56804,12 @@ p5cs ALDH18A1 + + + + ALDH18A1 + + @@ -52248,6 +56840,12 @@ nr2b GRIN2B + + + + GRIN2B + + @@ -52273,6 +56871,12 @@ GRIN2A + + + + GRIN2A + + @@ -52336,6 +56940,12 @@ kiaa0838 GLS + + + + GLS + + @@ -52369,6 +56979,12 @@ This term has one or more labels that end with ', INCLUDED'. GLUL + + + + GLUL + + @@ -52396,6 +57012,12 @@ GFPT1 + + + + GFPT1 + + @@ -52422,6 +57044,12 @@ EPRS1 + + + + EPRS1 + + @@ -52445,6 +57073,12 @@ GSR + + + + GSR + + @@ -52461,6 +57095,12 @@ glutathione peroxidase 1 GPX1 + + + + GPX1 + + @@ -52485,6 +57125,12 @@ GPX4 + + + + GPX4 + + @@ -52547,6 +57193,12 @@ GPD1 + + + + GPD1 + + @@ -52573,6 +57225,12 @@ GPD2 + + + + GPD2 + + @@ -52597,6 +57255,12 @@ SHMT2 + + + + SHMT2 + + @@ -52637,6 +57301,12 @@ properdin factor B CFB + + + + CFB + + @@ -52663,6 +57333,12 @@ SLC25A32 + + + + SLC25A32 + + @@ -52686,6 +57362,12 @@ GLRA1 + + + + GLRA1 + + @@ -52709,6 +57391,12 @@ GLRB + + + + GLRB + + @@ -52746,6 +57434,12 @@ GYS1 + + + + GYS1 + + @@ -52771,6 +57465,12 @@ GYS2 + + + + GYS2 + + @@ -52797,6 +57497,12 @@ AHSG + + + + AHSG + + @@ -52830,6 +57536,12 @@ platelet glycoprotein ib, beta polypeptide GP1BB + + + + GP1BB + + @@ -52847,6 +57559,12 @@ hydroxyacyl glutathione hydrolase HAGH + + + + HAGH + + @@ -52883,6 +57601,12 @@ simple goiter goiter, multinodular 1, with or without sertoli-leydig cell tumors + + + + MNG1 + + @@ -52909,6 +57633,12 @@ GNRHR + + + + GNRHR + + @@ -52932,6 +57662,12 @@ GSC + + + + GSC + + @@ -52943,6 +57679,12 @@ uric acid concentration, serum, quantitative trait locus 1 uric acid concentration, serum, quantitative trait locus 1 + + + + UAQTL1 + + @@ -53000,6 +57742,12 @@ This term has one or more labels that end with ', INCLUDED'. GRN + + + + GRN + + @@ -53029,6 +57777,12 @@ granulocyte colony-stimulating factor receptor CSF3R + + + + CSF3R + + @@ -53056,6 +57810,12 @@ CSF2RB + + + + CSF2RB + + @@ -53099,6 +57859,12 @@ platelet alpha-granule deficiency gray platelet syndrome + + + + GPS + + @@ -53137,6 +57903,12 @@ guanine nucleotide-binding protein, beta-3 GNB3 + + + + GNB3 + + @@ -53176,6 +57948,12 @@ ras p21 protein activator 1 RASA1 + + + + RASA1 + + @@ -53194,6 +57972,12 @@ somatocrinin GHRH + + + + GHRH + + @@ -53218,6 +58002,12 @@ GHRHR + + + + GHRHR + + @@ -53231,6 +58021,12 @@ myhre syndrome myhre syndrome + + + + MYHRS + + @@ -53294,6 +58090,12 @@ growth hormone, pituitary GH1 + + + + GH1 + + @@ -53304,6 +58106,12 @@ guanylate kinase 2 guanylate kinase 2 + + + + GUK2 + + @@ -53314,6 +58122,12 @@ guanylate kinase 3 guanylate kinase 3 + + + + GUK3 + + @@ -53328,6 +58142,12 @@ This term has one or more labels that end with ', INCLUDED'. aromatase excess syndrome + + + + AEXS + + @@ -53354,6 +58174,12 @@ GNAI1 + + + + GNAI1 + + @@ -53385,6 +58211,12 @@ guanine nucleotide-binding protein, alpha-activating activity polypeptide o GNAO1 + + + + GNAO1 + + @@ -53409,6 +58241,12 @@ GNAL + + + + GNAL + + @@ -53437,6 +58275,12 @@ guanine nucleotide-binding protein, alpha-11 GNA11 + + + + GNA11 + + @@ -53506,6 +58350,12 @@ This term has one or more labels that end with ', INCLUDED'. GNAS + + + + GNAS + + @@ -53536,6 +58386,12 @@ transducin, rod-specific, alpha polypeptide GNAT1 + + + + GNAT1 + + @@ -53561,6 +58417,12 @@ GNAT2 + + + + GNAT2 + + @@ -53616,6 +58478,12 @@ keratin 1, type 2 KRT1 + + + + KRT1 + + @@ -53639,6 +58507,12 @@ guanine nucleotide-binding protein, alpha-inhibiting activity polypeptide 2 GNAI2 + + + + GNAI2 + + @@ -53663,6 +58537,12 @@ GNAI3 + + + + GNAI3 + + @@ -53698,6 +58578,12 @@ transducin, beta polypeptide GNB1 + + + + GNB1 + + @@ -53726,6 +58612,12 @@ guanine nucleotide-binding protein, beta-2 GNB2 + + + + GNB2 + + @@ -53739,6 +58631,12 @@ This term has one or more labels that end with ', INCLUDED'. guillain-barre syndrome, familial + + + + GBS + + @@ -53767,6 +58665,12 @@ GUCY1A3 + + + + GUCY1A3 + + @@ -53797,6 +58701,12 @@ hair morphology 2 hair morphology 2 + + + + HRM2 + + @@ -53871,6 +58781,12 @@ handedness hand skill, relative + + + + HSR + + @@ -53882,6 +58798,12 @@ hand-foot-uterus syndrome hand-foot-genital syndrome + + + + HFG + + @@ -53916,6 +58838,12 @@ This term has one or more labels that end with ', INCLUDED'. HP + + + + HP + + @@ -53955,6 +58883,12 @@ hawkinsinuria hawkinsinuria + + + + HWKS + + @@ -53973,6 +58907,12 @@ progressive familial heart block, type 2 progressive familial heart block, type 2 + + + + PFHB2 + + @@ -54039,6 +58979,12 @@ This term has one or more labels that end with ', INCLUDED'. osteoarthritis susceptibility 2 + + + + OS2 + + @@ -54103,6 +59049,12 @@ NCKAP1L + + + + NCKAP1L + + @@ -54117,6 +59069,12 @@ thin-basement-membrane nephropathy hematuria, benign familial, 1 + + + + BFH1 + + @@ -54147,6 +59105,12 @@ hemoxygenase 1 HMOX1 + + + + HMOX1 + + @@ -54158,6 +59122,12 @@ parry-romberg syndrome hemifacial atrophy, progressive + + + + HFA + + @@ -54205,6 +59175,12 @@ This term has one or more labels that end with ', INCLUDED'. migraine, familial hemiplegic, 1 + + + + FHM1 + + @@ -54240,6 +59216,12 @@ This term has one or more labels that end with ', INCLUDED'. fetal hemoglobin quantitative trait locus 1 + + + + HBFQTL1 + + @@ -54310,6 +59292,12 @@ minor alpha-globin locus HBA1 + + + + HBA1 + + @@ -54353,6 +59341,12 @@ major alpha-globin locus HBA2 + + + + HBA2 + + @@ -54417,6 +59411,12 @@ hemoglobin--beta locus HBB + + + + HBB + + @@ -54442,6 +59442,12 @@ hemoglobin--delta locus HBD + + + + HBD + + @@ -54466,6 +59472,12 @@ HBG1 + + + + HBG1 + + @@ -54494,6 +59506,12 @@ HIST1H1E + + + + HIST1H1E + + @@ -54523,6 +59541,12 @@ hemoglobin--gamma locus, 136 glycine HBG2 + + + + HBG2 + + @@ -54584,6 +59608,12 @@ fetal hemoglobin quantitative trait locus 5 fetal hemoglobin quantitative trait locus 5 + + + + HBFQTL5 + + @@ -54642,6 +59672,12 @@ HCF2 + + + + HCF2 + + @@ -54666,6 +59702,12 @@ HCK + + + + HCK + + @@ -54721,6 +59763,12 @@ HGF + + + + HGF + + @@ -54778,6 +59826,12 @@ transcription factor 1 HNF1A + + + + HNF1A + + @@ -54810,6 +59864,12 @@ This term has one or more labels that end with ', INCLUDED'. NRG1 + + + + NRG1 + + @@ -54848,6 +59908,12 @@ perlecan HSPG2 + + + + HSPG2 + + @@ -54864,6 +59930,12 @@ fetal hemoglobin quantitative trait locus 2 fetal hemoglobin quantitative trait locus 2 + + + + HBFQTL2 + + @@ -54931,6 +60003,12 @@ hexokinase 1 HK1 + + + + HK1 + + @@ -54956,6 +60034,12 @@ ABHD16A + + + + ABHD16A + + @@ -54979,6 +60063,12 @@ HPCA + + + + HPCA + + @@ -54995,6 +60085,12 @@ This term has one or more labels that end with ', INCLUDED'. hirschsprung disease, susceptibility to, 1 + + + + HSCR1 + + @@ -55038,6 +60134,12 @@ HRG + + + + HRG + + @@ -55048,6 +60150,12 @@ hexosaminidase c hexosaminidase c + + + + HEXC + + @@ -55061,6 +60169,12 @@ osteoarthropathy, premature degenerative, of hip beukes hip dysplasia + + + + HDB + + @@ -55075,6 +60189,12 @@ tumor necrosis factor receptor-associated periodic syndrome periodic fever, familial, autosomal dominant + + + + FPF + + @@ -55100,6 +60220,12 @@ hidradenitis suppurativa, familial acne inversa, familial, 1 + + + + ACNINV1 + + @@ -55120,6 +60246,12 @@ hip dysplasia, developmental developmental dysplasia of the hip 1 + + + + DDH1 + + @@ -55143,6 +60275,12 @@ HDC + + + + HDC + + @@ -55196,6 +60334,12 @@ HLA-A + + + + HLA-A + + @@ -55227,6 +60371,12 @@ hrs HARS1 + + + + HARS1 + + @@ -55260,6 +60410,12 @@ This term has one or more labels that end with ', INCLUDED'. HLA-B + + + + HLA-B + + @@ -55289,6 +60445,12 @@ major histocompatibility complex, class i, c HLA-C + + + + HLA-C + + @@ -55325,6 +60487,12 @@ major histocompatibility complex, class ii, dr beta-1 HLA-DRB1 + + + + HLA-DRB1 + + @@ -55342,6 +60510,12 @@ major histocompatibility complex, class ii, dp beta-1 HLA-DPB1 + + + + HLA-DPB1 + + @@ -55376,6 +60550,12 @@ t-cell a locus HLA-G + + + + HLA-G + + @@ -55401,6 +60581,12 @@ hos1 holt-oram syndrome + + + + HOS + + @@ -55430,6 +60616,12 @@ hmg-coa reductase HMGCR + + + + HMGCR + + @@ -55451,6 +60643,12 @@ holoprosencephaly 3 holoprosencephaly 3 + + + + HPE3 + + @@ -55474,6 +60672,12 @@ holoprosencephaly 4 holoprosencephaly 4 + + + + HPE4 + + @@ -55499,6 +60703,12 @@ lab, drosophila, homolog of HOXA1 + + + + HOXA1 + + @@ -55523,6 +60733,12 @@ HOXA11 + + + + HOXA11 + + @@ -55552,6 +60768,12 @@ homeobox a13 HOXA13 + + + + HOXA13 + + @@ -55577,6 +60799,12 @@ HOXB1 + + + + HOXB1 + + @@ -55603,6 +60831,12 @@ HOXC13 + + + + HOXC13 + + @@ -55640,6 +60874,12 @@ muscle segment homeobox, drosophila, homolog of, 1 MSX1 + + + + MSX1 + + @@ -55664,6 +60904,12 @@ hox-4.4, mouse, homolog of HOXD10 + + + + HOXD10 + + @@ -55711,6 +60957,12 @@ homeobox d13 HOXD13 + + + + HOXD13 + + @@ -55744,6 +60996,12 @@ HMX1 + + + + HMX1 + + @@ -55774,6 +61032,12 @@ visual system homeobox 2 VSX2 + + + + VSX2 + + @@ -55799,6 +61063,12 @@ MNX1 + + + + MNX1 + + @@ -55819,6 +61089,12 @@ restriction fragment length polymorphism, sickle cell anemia-related hpa 1 recognition polymorphism, beta-globin-related + + + + HPA1 + + @@ -55856,6 +61132,12 @@ HIVEP2 + + + + HIVEP2 + + @@ -55919,6 +61201,12 @@ spondyloepiphyseal dysplasia, omani type spondyloepiphyseal dysplasia with congenital joint dislocations + + + + SEDCJD + + @@ -55930,6 +61218,12 @@ huntington disease huntington disease + + + + HD + + @@ -55964,6 +61258,12 @@ wagner vitreoretinopathy wagner vitreoretinopathy + + + + WGVRP + + @@ -55991,6 +61291,12 @@ ureteropelvic junction obstruction congenital anomalies of kidney and urinary tract 2 + + + + CAKUT2 + + @@ -56017,6 +61323,12 @@ HADHB + + + + HADHB + + @@ -56027,6 +61339,12 @@ HTOR 5-hydroxytryptamine oxygenase regulator + + + + HTOR + + @@ -56038,6 +61356,12 @@ hyperactivity of childhood attention deficit-hyperactivity disorder + + + + ADHD + + @@ -56053,6 +61377,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperalphalipoproteinemia 1 + + + + HALP1 + + @@ -56106,6 +61436,12 @@ hyperchlorhidrosis, isolated hyperchlorhidrosis, isolated + + + + HYCHL + + @@ -56129,6 +61465,12 @@ hypercalciuria, familial idiopathic hypercalciuria, absorptive, 2 + + + + HCA2 + + @@ -56153,6 +61495,12 @@ hypercalcemia, infantile, 1 hypercalcemia, infantile, 1 + + + + HCINF1 + + @@ -56196,6 +61544,12 @@ This term has one or more labels that end with ', INCLUDED'. hypercholesterolemia, familial, 1 + + + + FHCL1 + + @@ -56211,6 +61565,12 @@ hypercholesterolemia, familial, due to ligand-defective apolipoprotein B hypercholesterolemia, familial, 2 + + + + FHCL2 + + @@ -56242,6 +61602,12 @@ hyperhidrosis, gustatory hyperhidrosis, gustatory + + + + HYPRG + + @@ -56259,6 +61625,12 @@ hyperhidrosis, primary palmar hyperhidrosis palmaris et plantaris + + + + HYPRPP + + @@ -56285,6 +61657,12 @@ hyperkeratosis lenticularis perstans hyperkeratosis lenticularis perstans + + + + HLP + + @@ -56324,6 +61702,12 @@ tylosis palmoplantar keratoderma, epidermolytic, 1 + + + + EPPK1 + + @@ -56335,6 +61719,12 @@ hyperlipidemia, familial combined, 3 hyperlipidemia, familial combined, 3 + + + + FCHL3 + + @@ -56427,6 +61817,12 @@ This term has one or more labels that end with ', INCLUDED'. renal cell carcinoma, nonpapillary + + + + RCC + + @@ -56448,6 +61844,12 @@ hyperostosis cranialis interna hyperostosis cranialis interna + + + + HCIN + + @@ -56472,6 +61874,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperparathyroidism 1 + + + + HRPT1 + + @@ -56487,6 +61895,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperparathyroidism 2 with jaw tumors + + + + HRPT2 + + @@ -56517,6 +61931,12 @@ melanosis universalis hereditaria hyperpigmentation with or without hypopigmentation, familial progressive + + + + FPHH + + @@ -56537,6 +61957,12 @@ pseudohypoaldosteronism, type 2a pseudohypoaldosteronism, type 2a + + + + PHA2A + + @@ -56557,6 +61983,12 @@ hyperreflexia hyperreflexia + + + + HRX + + @@ -56597,6 +62029,12 @@ hypotaurinemic retinal degeneration and cardiomyopathy hypotaurinemic retinal degeneration and cardiomyopathy + + + + HTRDC + + @@ -56638,6 +62076,12 @@ teebi hypertelorism syndrome 1 teebi hypertelorism syndrome 1 + + + + TBHS1 + + @@ -56701,6 +62145,12 @@ sa, rat, homolog of ACSM3 + + + + ACSM3 + + @@ -56725,6 +62175,12 @@ mhs malignant hyperthermia, susceptibility to, 1 + + + + MHS1 + + @@ -56736,6 +62192,12 @@ thyroid hormone resistance, selective pituitary thyroid hormone resistance, selective pituitary + + + + PRTH + + @@ -56749,6 +62211,12 @@ hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia, dystransthyretinemic + + + + DTTRH + + @@ -56777,6 +62245,12 @@ hypertrichosis, congenital generalized hypertrichosis universalis congenita, ambras type + + + + HTC1 + + @@ -56788,6 +62262,12 @@ hypertriglyceridemia, familial hypertriglyceridemia 1 + + + + HYTG1 + + @@ -56828,6 +62308,12 @@ This term has one or more labels that end with ', INCLUDED'. hypocalciuric hypercalcemia, familial, type 1 + + + + HHC1 + + @@ -56841,6 +62327,12 @@ hypocalciuric hypercalcemia, familial, type 2 hypocalciuric hypercalcemia, familial, type 2 + + + + HHC2 + + @@ -56851,6 +62343,12 @@ hypochondroplasia hypochondroplasia + + + + HCH + + @@ -56876,6 +62374,12 @@ idiopathic hypogonadotropic hypogonadism hypogonadotropic hypogonadism 7 with or without anosmia + + + + HH7 + + @@ -56918,6 +62422,12 @@ hypoparathyroidism, familial isolated, 1 hypoparathyroidism, familial isolated, 1 + + + + FIH1 + + @@ -56944,6 +62454,12 @@ nephrosis, nerve deafness, and hypoparathyroidism hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome + + + + HDRS + + @@ -56957,6 +62473,12 @@ This term has one or more labels that end with ', INCLUDED'. hypophosphatasia, adult + + + + HPPA + + @@ -56967,6 +62489,12 @@ hypophosphatemic bone disease hypophosphatemic bone disease + + + + HBD + + @@ -57009,6 +62537,12 @@ hypospadias 3, autosomal hypospadias 3, autosomal + + + + HYSP3 + + @@ -57023,6 +62557,12 @@ This term has one or more labels that end with ', INCLUDED'. multiple system atrophy 1, susceptibility to + + + + MSA1 + + @@ -57034,6 +62574,12 @@ pallister-hall syndrome pallister-hall syndrome + + + + PHS + + @@ -57048,6 +62594,12 @@ hypotrichosis, spanish type hypotrichosis 2 + + + + HYPT2 + + @@ -57082,6 +62634,12 @@ marie unna hereditary hypotrichosis 1 hypotrichosis 4 + + + + HYPT4 + + @@ -57102,6 +62660,12 @@ ichthyosis hystrix, curth-macklin type ichthyosis hystrix, curth-macklin type + + + + IHCM + + @@ -57115,6 +62679,12 @@ porcupine man ichthyosis hystrix, lambert type + + + + IHL + + @@ -57138,6 +62708,12 @@ IL7 + + + + IL7 + + @@ -57164,6 +62740,12 @@ IL7R + + + + IL7R + + @@ -57196,6 +62778,12 @@ This term has one or more labels that end with ', INCLUDED'. IMPDH1 + + + + IMPDH1 + + @@ -57220,6 +62808,12 @@ IMPDH2 + + + + IMPDH2 + + @@ -57263,6 +62857,12 @@ IL2RB + + + + IL2RB + + @@ -57298,6 +62898,12 @@ INSL3 + + + + INSL3 + + @@ -57325,6 +62931,12 @@ FCGR3A + + + + FCGR3A + + @@ -57348,6 +62960,12 @@ lamellar ichthyosis, autosomal dominant ichthyosis, lamellar, autosomal dominant + + + + ADLI + + @@ -57368,6 +62986,12 @@ immunoglobulin g fc receptor 1 FCGR1A + + + + FCGR1A + + @@ -57395,6 +63019,12 @@ IGLL1 + + + + IGLL1 + + @@ -57444,6 +63074,12 @@ immunoglobulin g fc receptor 2 FCGR2A + + + + FCGR2A + + @@ -57469,6 +63105,12 @@ This term has one or more labels that end with ', INCLUDED'. ichthyosis bullosa of siemens + + + + IBS + + @@ -57479,6 +63121,12 @@ immune response to synthetic polypeptide--irphegal immune response to synthetic polypeptide--irphegal + + + + IPHEG + + @@ -57489,6 +63137,12 @@ immune response to synthetic polypeptide--irgat immune response to synthetic polypeptide--irgat + + + + IGAT + + @@ -57519,6 +63173,12 @@ streptococcal cell wall antigen, suppression of immune response to immune suppression + + + + IS + + @@ -57547,6 +63207,12 @@ HLA-DQA1 + + + + HLA-DQA1 + + @@ -57579,6 +63245,12 @@ interferon-induced protein 4 ADAR + + + + ADAR + + @@ -57604,6 +63276,12 @@ CXCR2 + + + + CXCR2 + + @@ -57629,6 +63307,12 @@ CXCR1 + + + + CXCR1 + + @@ -57662,6 +63346,12 @@ IL10RA + + + + IL10RA + + @@ -57680,6 +63370,12 @@ immune response to synthetic polypeptide--irhgal immune response to synthetic polypeptide--irhgal + + + + IHG + + @@ -57690,6 +63386,12 @@ immune response to synthetic polypeptide--irtgal immune response to synthetic polypeptide--irtgal + + + + ITG + + @@ -57701,6 +63403,12 @@ immunoglobulin heavy chain diversity region 2 immunoglobulin heavy chain diversity region 2 + + + + IGHDY2 + + @@ -57726,6 +63434,12 @@ IGHM + + + + IGHM + + @@ -57743,6 +63457,12 @@ This term has one or more labels that end with ', INCLUDED'. ige responsiveness, atopic + + + + IGER + + @@ -57758,6 +63478,12 @@ job syndrome hyper-ige syndrome 1, autosomal dominant, with recurrent infections + + + + HIES1 + + @@ -57774,6 +63500,12 @@ immunoglobulin e concentration, serum immunoglobulin e concentration, serum + + + + IGES + + @@ -57784,6 +63516,12 @@ immune response to synthetic polypeptide--irglphe 1 immune response to synthetic polypeptide--irglphe 1 + + + + IGLP1 + + @@ -57794,6 +63532,12 @@ immune response to synthetic polypeptide--irglphe 2 immune response to synthetic polypeptide--irglphe 2 + + + + IGLP2 + + @@ -57813,6 +63557,12 @@ immunoglobulin heavy chain gamma-2 constant region IGHG2 + + + + IGHG2 + + @@ -57849,6 +63599,12 @@ This term has one or more labels that end with ', INCLUDED'. TCF3 + + + + TCF3 + + @@ -57884,6 +63640,12 @@ RBPJ + + + + RBPJ + + @@ -57909,6 +63671,12 @@ IGKC + + + + IGKC + + @@ -57942,6 +63710,12 @@ CD79B + + + + CD79B + + @@ -57959,6 +63733,12 @@ This term has one or more labels that end with ', INCLUDED'. solitary median maxillary central incisor + + + + SMMCI + + @@ -58017,6 +63797,12 @@ ip3r1 ITPR1 + + + + ITPR1 + + @@ -58046,6 +63832,12 @@ ip3r3 ITPR3 + + + + ITPR3 + + @@ -58071,6 +63863,12 @@ IGF2R + + + + IGF2R + + @@ -58130,6 +63928,12 @@ IGF1R + + + + IGF1R + + @@ -58193,6 +63997,12 @@ marsili syndrome marsili syndrome + + + + MARSIS + + @@ -58218,6 +64028,12 @@ IGF1 + + + + IGF1 + + @@ -58251,6 +64067,12 @@ superoxide dismutase, soluble SOD1 + + + + SOD1 + + @@ -58277,6 +64099,12 @@ SOD2 + + + + SOD2 + + @@ -58301,6 +64129,12 @@ IGF2 + + + + IGF2 + + @@ -58312,6 +64146,12 @@ cholestasis, pregnancy-related, 1 cholestasis, intrahepatic, of pregnancy, 1 + + + + ICP1 + + @@ -58351,6 +64191,12 @@ inosine triphosphate pyrophosphohydrolase ITPA + + + + ITPA + + @@ -58383,16 +64229,21 @@ - + - coronary artery disease, susceptibility to IRS1 insulin receptor substrate 1 - This term has one or more labels that end with ', INCLUDED'. IRS1 + + + + + IRS1 + + @@ -58425,6 +64276,12 @@ ITGA6 + + + + ITGA6 + + @@ -58453,6 +64310,12 @@ integrin, beta-4 ITGB4 + + + + ITGB4 + + @@ -58476,6 +64339,12 @@ ITGB6 + + + + ITGB6 + + @@ -58511,6 +64380,12 @@ IFNGR2 + + + + IFNGR2 + + @@ -58565,6 +64440,12 @@ interferon, gamma IFNG + + + + IFNG + + @@ -58590,6 +64471,12 @@ ISG15 + + + + ISG15 + + @@ -58618,6 +64505,12 @@ IRF9 + + + + IRF9 + + @@ -58652,6 +64545,12 @@ interferon regulatory factor 1 IRF1 + + + + IRF1 + + @@ -58684,6 +64583,12 @@ IREB2 + + + + IREB2 + + @@ -58768,6 +64673,12 @@ interleukin 6 IL6 + + + + IL6 + + @@ -58791,6 +64702,12 @@ islet cell adenomatosis insulinomatosis and diabetes mellitus + + + + INSDM + + @@ -58816,6 +64733,12 @@ IDH2 + + + + IDH2 + + @@ -58838,6 +64761,12 @@ This term has one or more labels that end with ', INCLUDED'. IFNA1 + + + + IFNA1 + + @@ -58878,6 +64807,12 @@ insulin receptor INSR + + + + INSR + + @@ -58913,6 +64848,12 @@ interleukin 1 receptor antagonist IL1RN + + + + IL1RN + + @@ -58941,6 +64882,12 @@ interleukin 13 IL13 + + + + IL13 + + @@ -58985,6 +64932,12 @@ IDH1 + + + + IDH1 + + @@ -59018,6 +64971,12 @@ IL1B + + + + IL1B + + @@ -59051,6 +65010,12 @@ tac antigen IL2RA + + + + IL2RA + + @@ -59063,6 +65028,12 @@ radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia ivic syndrome + + + + IVIC + + @@ -59093,6 +65064,12 @@ partial 11q monosomy syndrome jacobsen syndrome + + + + JBS + + @@ -59116,6 +65093,12 @@ JAK1 + + + + JAK1 + + @@ -59170,6 +65153,12 @@ This term has one or more labels that end with ', INCLUDED'. JAK2 + + + + JAK2 + + @@ -59206,6 +65195,12 @@ IL1R1 + + + + IL1R1 + + @@ -59241,6 +65236,12 @@ ICAM1 + + + + ICAM1 + + @@ -59251,6 +65252,12 @@ interferon, beta-3 interferon, beta-3 + + + + IFNB3 + + @@ -59287,6 +65294,12 @@ interleukin 6 receptor, alpha IL6R + + + + IL6R + + @@ -59302,6 +65315,12 @@ small patella syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension + + + + ICPPS + + @@ -59326,6 +65345,12 @@ DIO1 + + + + DIO1 + + @@ -59365,6 +65390,12 @@ KLK1 + + + + KLK1 + + @@ -59379,6 +65410,12 @@ niikawa-kuroki syndrome kabuki syndrome 1 + + + + KABUK1 + + @@ -59391,6 +65428,12 @@ kallmann syndrome 2 hypogonadotropic hypogonadism 2 with or without anosmia + + + + HH2 + + @@ -59463,6 +65506,12 @@ keratin 5, type 2 KRT5 + + + + KRT5 + + @@ -59488,6 +65537,12 @@ KRT6A + + + + KRT6A + + @@ -59514,6 +65569,12 @@ KRT6B + + + + KRT6B + + @@ -59540,6 +65601,12 @@ KRT3 + + + + KRT3 + + @@ -59563,6 +65630,12 @@ macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies kbg syndrome + + + + KBGS + + @@ -59589,6 +65662,12 @@ KRT13 + + + + KRT13 + + @@ -59643,6 +65722,12 @@ keratin 14, type 1 KRT14 + + + + KRT14 + + @@ -59673,6 +65758,12 @@ keratin 16, type 1 KRT16 + + + + KRT16 + + @@ -59704,6 +65795,12 @@ keratin 17, type 1 KRT17 + + + + KRT17 + + @@ -59729,6 +65826,12 @@ keratin 18, type 1 KRT18 + + + + KRT18 + + @@ -59777,6 +65880,12 @@ keratin 10, type 1 KRT10 + + + + KRT10 + + @@ -59787,6 +65896,12 @@ keloid formation keloid formation + + + + KLDF + + @@ -59816,6 +65931,12 @@ keratoendotheliitis fugax hereditaria keratoendotheliitis fugax hereditaria + + + + KEFH + + @@ -59829,6 +65950,12 @@ kid syndrome, autosomal dominant keratitis-ichthyosis-deafness syndrome, autosomal dominant + + + + KIDAD + + @@ -59840,6 +65967,12 @@ keratoconus 1 keratoconus 1 + + + + KTCN1 + + @@ -59871,6 +66004,12 @@ oudtshoorn skin disease keratolytic winter erythema + + + + KWE + + @@ -59904,6 +66043,12 @@ tylosis with esophageal cancer tylosis with esophageal cancer + + + + TOC + + @@ -59939,6 +66084,12 @@ palmoplantar keratoderma, punctate type 1a palmoplantar keratoderma, punctate type 1a + + + + PPKP1A + + @@ -59952,6 +66103,12 @@ striate palmoplantar keratoderma 1 palmoplantar keratoderma i, striate, focal, or diffuse + + + + PPKS1 + + @@ -59989,6 +66146,12 @@ KIF11 + + + + KIF11 + + @@ -60013,6 +66176,12 @@ waardenburg syndrome, type 3 waardenburg syndrome, type 3 + + + + WS3 + + @@ -60088,6 +66257,12 @@ knuckle pads, leukonychia, and sensorineural deafness bart-pumphrey syndrome + + + + BAPS + + @@ -60103,6 +66278,12 @@ This term has one or more labels that end with ', INCLUDED'. nail disorder, nonsyndromic congenital, 2 + + + + NDNC2 + + @@ -60134,6 +66315,12 @@ stiff-person syndrome, congenital hyperekplexia 1 + + + + HKPX1 + + @@ -60176,6 +66363,12 @@ nasolacrimal duct obstruction lacrimal duct defect + + + + LCDD + + @@ -60191,6 +66384,12 @@ levy-hollister syndrome lacrimoauriculodentodigital syndrome 1 + + + + LADD1 + + @@ -60215,6 +66414,12 @@ LDHA + + + + LDHA + + @@ -60239,6 +66444,12 @@ LDHB + + + + LDHB + + @@ -60275,6 +66486,12 @@ lactogen, placental CSH1 + + + + CSH1 + + @@ -60303,6 +66520,12 @@ trichorhinophalangeal syndrome, type 2 trichorhinophalangeal syndrome, type 2 + + + + TRPS2 + + @@ -60326,6 +66549,12 @@ LAMB1 + + + + LAMB1 + + @@ -60336,6 +66565,12 @@ larsen syndrome larsen syndrome + + + + LRS + + @@ -60365,6 +66600,12 @@ vocal cord dysfunction, adductor type laryngeal adductor paralysis + + + + LAP + + @@ -60408,6 +66649,12 @@ laminin, nicein, beta-2 LAMC2 + + + + LAMC2 + + @@ -60454,6 +66701,12 @@ laminin, beta-3 LAMB3 + + + + LAMB3 + + @@ -60478,6 +66731,12 @@ LAMA1 + + + + LAMA1 + + @@ -60507,6 +66766,12 @@ laminin, beta-2 LAMB2 + + + + LAMB2 + + @@ -60594,6 +66859,12 @@ This term has one or more labels that end with ', INCLUDED'. LMNA + + + + LMNA + + @@ -60623,6 +66894,12 @@ lmnb LMNB1 + + + + LMNB1 + + @@ -60657,6 +66934,12 @@ lamin b2 LMNB2 + + + + LMNB2 + + @@ -60695,6 +66978,12 @@ RPSA + + + + RPSA + + @@ -60718,6 +67007,12 @@ LTBP1 + + + + LTBP1 + + @@ -60733,6 +67028,12 @@ tooth agenesis, selective, 4, with or without ectodermal dysplasia tooth agenesis, selective, 4 + + + + STHAG4 + + @@ -60765,6 +67066,12 @@ periodic fever, immunodeficiency, and thrombocytopenia syndrome periodic fever, immunodeficiency, and thrombocytopenia syndrome + + + + PFITS + + @@ -60789,6 +67096,12 @@ LGALS2 + + + + LGALS2 + + @@ -60811,6 +67124,12 @@ perthes disease legg-calve-perthes disease + + + + LCPD + + @@ -60821,6 +67140,12 @@ leiomyoma, uterine leiomyoma, uterine + + + + UL + + @@ -60844,6 +67169,12 @@ multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma hereditary leiomyomatosis and renal cell cancer + + + + HLRCC + + @@ -60898,6 +67229,12 @@ lenz-majewski syndrome lenz-majewski hyperostotic dwarfism + + + + LMHD + + @@ -60911,6 +67248,12 @@ multiple lentigines syndrome leopard syndrome 1 + + + + LPRD1 + + @@ -60942,6 +67285,12 @@ This term has one or more labels that end with ', INCLUDED'. platyspondylic lethal skeletal dysplasia, torrance type + + + + PLSDT + + @@ -60969,6 +67318,12 @@ LARS1 + + + + LARS1 + + @@ -61018,6 +67373,12 @@ This term has one or more labels that end with ', INCLUDED'. RUNX1 + + + + RUNX1 + + @@ -61038,6 +67399,12 @@ leukemia, chronic lymphocytic leukemia, chronic lymphocytic + + + + CLL + + @@ -61072,6 +67439,12 @@ This term has one or more labels that end with ', INCLUDED'. BCR + + + + BCR + + @@ -61091,6 +67464,12 @@ This term has one or more labels that end with ', INCLUDED'. BCL2 + + + + BCL2 + + @@ -61107,6 +67486,12 @@ lymphoblastic leukemia-derived sequence 1 LYL1 + + + + LYL1 + + @@ -61130,6 +67515,12 @@ LIFR + + + + LIFR + + @@ -61141,6 +67532,12 @@ leukocyte antigen group five leukocyte antigen group five + + + + LAG5 + + @@ -61170,6 +67567,12 @@ PTPRC + + + + PTPRC + + @@ -61225,6 +67628,12 @@ lichen sclerosus et atrophicus lichen sclerosus et atrophicus + + + + LSA + + @@ -61253,6 +67662,12 @@ This term has one or more labels that end with ', INCLUDED'. nail disorder, nonsyndromic congenital, 3 + + + + NDNC3 + + @@ -61264,6 +67679,12 @@ oculomotor-levator synkinesis oculomotor-levator synkinesis + + + + OCLEVS + + @@ -61288,6 +67709,12 @@ This term has one or more labels that end with ', INCLUDED'. li-fraumeni syndrome + + + + LFS + + @@ -61323,6 +67750,12 @@ lipodystrophy, reverse partial lipodystrophy, familial partial, type 2 + + + + FPLD2 + + @@ -61361,6 +67794,12 @@ liph LIPC + + + + LIPC + + @@ -61427,6 +67866,12 @@ LIPE + + + + LIPE + + @@ -61439,6 +67884,12 @@ lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy + + + + MSL + + @@ -61451,6 +67902,12 @@ lipomatosis, multiple lipomatosis, familial multiple + + + + FML + + @@ -61485,6 +67942,12 @@ This term has one or more labels that end with ', INCLUDED'. LPA + + + + LPA + + @@ -61523,6 +67986,12 @@ arachidonate 5-lipoxygenase ALOX5 + + + + ALOX5 + + @@ -61613,6 +68082,12 @@ potassium channel, voltage-gated, subfamily h, member 2 KCNH2 + + + + KCNH2 + + @@ -61653,6 +68128,12 @@ LOR + + + + LOR + + @@ -61714,6 +68195,12 @@ This term has one or more labels that end with ', INCLUDED'. systemic lupus erythematosus + + + + SLE + + @@ -61741,6 +68228,12 @@ GNRH1 + + + + GNRH1 + + @@ -61776,6 +68269,12 @@ LHB + + + + LHB + + @@ -61807,6 +68306,12 @@ lutropin-choriogonadotropin receptor LHCGR + + + + LHCGR + + @@ -61854,6 +68359,12 @@ mlcrd syndrome microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development + + + + MCLMR + + @@ -61880,6 +68391,12 @@ primary congenital lymphedema lymphatic malformation 1 + + + + LMPHM1 + + @@ -61896,6 +68413,12 @@ meige lymphedema lymphatic malformation 5 + + + + LMPHM5 + + @@ -61972,6 +68495,12 @@ LCK + + + + LCK + + @@ -61991,6 +68520,12 @@ This term has one or more labels that end with ', INCLUDED'. lymphedema-distichiasis syndrome + + + + LPHDST + + @@ -62028,6 +68563,12 @@ tumor necrosis factor, beta LTA + + + + LTA + + @@ -62051,6 +68592,12 @@ LYZ + + + + LYZ + + @@ -62077,6 +68624,12 @@ PLOD1 + + + + PLOD1 + + @@ -62100,6 +68653,12 @@ LOX + + + + LOX + + @@ -62124,6 +68683,12 @@ LOXL1 + + + + LOXL1 + + @@ -62188,6 +68753,12 @@ macroglobulinemia, waldenstrom, susceptibility to, 1 macroglobulinemia, waldenstrom, susceptibility to, 1 + + + + WM1 + + @@ -62212,6 +68783,12 @@ MIF + + + + MIF + + @@ -62237,6 +68814,12 @@ MSR1 + + + + MSR1 + + @@ -62274,6 +68857,12 @@ bernard-soulier syndrome, type a2, autosomal dominant bernard-soulier syndrome, type a2, autosomal dominant + + + + BSSA2 + + @@ -62290,6 +68879,12 @@ vitelliform macular dystrophy, juvenile-onset macular dystrophy, vitelliform, 2 + + + + VMD2 + + @@ -62303,6 +68898,12 @@ maculopathy, age-related, 2 macular degeneration, age-related, 2 + + + + ARMD2 + + @@ -62315,6 +68916,12 @@ macular dystrophy, vitelliform, 1 macular dystrophy, vitelliform, 1 + + + + VMD1 + + @@ -62337,6 +68944,12 @@ retinitis pigmentosa 91 retinitis pigmentosa 91 + + + + RP91 + + @@ -62356,6 +68969,12 @@ mddc macular dystrophy, dominant cystoid + + + + DCMD + + @@ -62408,6 +69027,12 @@ magnesium wasting, renal hypomagnesemia 2, renal + + + + HOMG2 + + @@ -62433,6 +69058,12 @@ LIM2 + + + + LIM2 + + @@ -62460,6 +69091,12 @@ MIP + + + + MIP + + @@ -62484,6 +69121,12 @@ MDH2 + + + + MDH2 + + @@ -62511,6 +69154,12 @@ MDH1 + + + + MDH1 + + @@ -62530,6 +69179,12 @@ chromosome 9p24.3 deletion syndrome 46,xy sex reversal 4 + + + + SRXY4 + + @@ -62553,6 +69208,12 @@ MAK + + + + MAK + + @@ -62631,6 +69292,12 @@ nager syndrome acrofacial dysostosis 1, nager type + + + + AFD1 + + @@ -62657,6 +69324,12 @@ treacher collins-franceschetti syndrome treacher collins syndrome 1 + + + + TCS1 + + @@ -62685,6 +69358,12 @@ MBL2 + + + + MBL2 + + @@ -62709,6 +69388,12 @@ MPI + + + + MPI + + @@ -62743,6 +69428,12 @@ MAN2C1 + + + + MAN2C1 + + @@ -62765,6 +69456,12 @@ marfan syndrome, type 1 marfan syndrome + + + + MFS + + @@ -62793,6 +69490,12 @@ marshall syndrome marshall syndrome + + + + MRSHS + + @@ -62811,6 +69514,12 @@ This term has one or more labels that end with ', INCLUDED'. mastocytosis, cutaneous + + + + MASTC + + @@ -62846,6 +69555,12 @@ MGP + + + + MGP + + @@ -62875,6 +69590,12 @@ myc-associated factor 10 MAX + + + + MAX + + @@ -62919,6 +69640,12 @@ sebastian syndrome macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss + + + + MATINS + + @@ -62969,6 +69696,12 @@ thyroid carcinoma, familial medullary thyroid carcinoma, familial medullary + + + + MTC + + @@ -63001,6 +69734,12 @@ medulloblastoma predisposition syndrome medulloblastoma + + + + MDB + + @@ -63014,6 +69753,12 @@ visceral myopathy 1 visceral myopathy 1 + + + + VSCM1 + + @@ -63057,6 +69802,12 @@ MC3R + + + + MC3R + + @@ -63080,6 +69831,12 @@ melanocortin 4 receptor MC4R + + + + MC4R + + @@ -63122,6 +69879,12 @@ melanotropin receptor MC1R + + + + MC1R + + @@ -63145,6 +69908,12 @@ melanoma, malignant melanoma, cutaneous malignant, susceptibility to, 1 + + + + CMM1 + + @@ -63156,6 +69925,12 @@ melanoma, cutaneous malignant, susceptibility to, 2 melanoma, cutaneous malignant, susceptibility to, 2 + + + + CMM2 + + @@ -63230,6 +70005,12 @@ chondroitin sulfate proteoglycan core protein 1 ACAN + + + + ACAN + + @@ -63276,6 +70057,12 @@ melorheostosis, isolated melorheostosis, isolated + + + + MEL + + @@ -63345,6 +70132,12 @@ This term has one or more labels that end with ', INCLUDED'. MN1 + + + + MN1 + + @@ -63381,6 +70174,12 @@ This term has one or more labels that end with ', INCLUDED'. intellectual developmental disorder, autosomal dominant 1 + + + + MRD1 + + @@ -63423,6 +70222,12 @@ This term has one or more labels that end with ', INCLUDED'. LAMA2 + + + + LAMA2 + + @@ -63451,6 +70256,12 @@ mesomelic dysplasia, thai type mesomelic dysplasia, kantaputra type + + + + MMDK + + @@ -63461,6 +70272,12 @@ mesothelioma, malignant mesothelioma, malignant + + + + MESOM + + @@ -63471,6 +70288,12 @@ metachondromatosis metachondromatosis + + + + METCDS + + @@ -63508,6 +70331,12 @@ metaphyseal chondrodysplasia, murk jansen type metaphyseal chondrodysplasia, jansen type + + + + MCDJ + + @@ -63531,6 +70360,12 @@ spondylometaphyseal dysplasia, japanese type metaphyseal chondrodysplasia, schmid type + + + + MCDS + + @@ -63541,6 +70376,12 @@ metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly + + + + MDMHB + + @@ -63561,6 +70402,12 @@ metatropic dysplasia metatropic dysplasia + + + + MTD + + @@ -63594,6 +70441,12 @@ MTAP + + + + MTAP + + @@ -63648,6 +70501,12 @@ mtrns MARS1 + + + + MARS1 + + @@ -63678,6 +70537,12 @@ tetrahydropteroylglutamate methyltransferase MTR + + + + MTR + + @@ -63737,6 +70602,12 @@ skin creases, multiple benign ring-shaped, of limbs skin creases, congenital symmetric circumferential, 1 + + + + CSCSC1 + + @@ -63765,6 +70636,12 @@ microgastria-limb reduction defects association microgastria-limb reduction defects association + + + + MLRD + + @@ -63815,6 +70692,12 @@ microphthalmia-associated transcription factor MITF + + + + MITF + + @@ -63832,6 +70715,12 @@ microphthalmia, isolated, with cataract 1 microphthalmia, isolated, with cataract 1 + + + + MCOPCT1 + + @@ -63844,6 +70733,12 @@ microphthalmia, isolated, with corectopia microphthalmia, isolated, with corectopia + + + + MCOPCR + + @@ -63882,6 +70777,12 @@ microtubule-associated protein 1b MAP1B + + + + MAP1B + + @@ -63929,6 +70830,12 @@ mtbt1 MAPT + + + + MAPT + + @@ -63953,6 +70860,12 @@ MSMB + + + + MSMB + + @@ -63978,6 +70891,12 @@ MTTP + + + + MTTP + + @@ -64016,6 +70935,12 @@ holoprosencephaly 2 holoprosencephaly 2 + + + + HPE2 + + @@ -64055,6 +70980,12 @@ milia, multiple eruptive milia, multiple eruptive + + + + MEM + + @@ -64108,6 +71039,12 @@ mirror movements, congenital mirror movements 1 + + + + MRMV1 + + @@ -64120,6 +71057,12 @@ progressive external ophthalmoplegia, autosomal dominant 1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 + + + + PEOA1 + + @@ -64153,6 +71096,12 @@ NDUFS1 + + + + NDUFS1 + + @@ -64190,6 +71139,12 @@ rmrpr RMRP + + + + RMRP + + @@ -64224,6 +71179,12 @@ myxomatous valvular disease, familial mitral valve prolapse 1 + + + + MVP1 + + @@ -64235,6 +71196,12 @@ mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones cardiospondylocarpofacial syndrome + + + + CSCF + + @@ -64261,6 +71228,12 @@ moebius syndrome moebius syndrome + + + + MBS + + @@ -64301,6 +71274,12 @@ moloney leukemia virus integration site 2, mouse, homolog of moloney leukemia virus integration site 2, mouse, homolog of + + + + MLVI2 + + @@ -64354,6 +71333,12 @@ monilethrix monilethrix + + + + MNLIX + + @@ -64393,6 +71378,12 @@ monkey red blood cell receptor monkey red blood cell receptor + + + + MRBC + + @@ -64442,6 +71433,12 @@ This term has one or more labels that end with ', INCLUDED'. CCL2 + + + + CCL2 + + @@ -64509,6 +71506,12 @@ trismus-pseudocamptodactyly syndrome arthrogryposis, distal, type 7 + + + + DA7 + + @@ -64519,6 +71522,12 @@ mucoepithelial dysplasia, hereditary mucoepithelial dysplasia, hereditary + + + + HMD + + @@ -64530,6 +71539,12 @@ muir-torre syndrome muir-torre syndrome + + + + MRTES + + @@ -64570,6 +71585,12 @@ MUC1 + + + + MUC1 + + @@ -64595,6 +71616,12 @@ ABCC1 + + + + ABCC1 + + @@ -64631,6 +71658,12 @@ This term has one or more labels that end with ', INCLUDED'. cowden syndrome 1 + + + + CWS1 + + @@ -64655,6 +71688,12 @@ MUC7 + + + + MUC7 + + @@ -64682,6 +71721,12 @@ SLC20A2 + + + + SLC20A2 + + @@ -64718,6 +71763,12 @@ spinal muscular atrophy, distal, with vocal cord paralysis neuronopathy, distal hereditary motor, autosomal dominant 7 + + + + HMND7 + + @@ -64734,6 +71785,12 @@ spinal muscular atrophy, distal, adult, autosomal dominant, harding type 2a neuronopathy, distal hereditary motor, autosomal dominant 2 + + + + HMND2 + + @@ -64749,6 +71806,12 @@ spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant + + + + SMALED1 + + @@ -64792,6 +71855,12 @@ myopathy, benign congenital, with contractures bethlem myopathy 1a + + + + BTHLM1A + + @@ -64816,6 +71885,12 @@ This term has one or more labels that end with ', INCLUDED'. facioscapulohumeral muscular dystrophy 1 + + + + FSHD1 + + @@ -64830,6 +71905,12 @@ muscular dystrophy, facioscapulohumeral, type 2 facioscapulohumeral muscular dystrophy 2, digenic + + + + FSHD2 + + @@ -64900,6 +71981,12 @@ MCC + + + + MCC + + @@ -64988,6 +72075,12 @@ myelin protein, peripheral MPZ + + + + MPZ + + @@ -65021,6 +72114,12 @@ MAG + + + + MAG + + @@ -65044,6 +72143,12 @@ MOG + + + + MOG + + @@ -65090,6 +72195,12 @@ thrombopoietin receptor MPL + + + + MPL + + @@ -65101,6 +72212,12 @@ myelocerebellar disorder ataxia-pancytopenia syndrome + + + + ATXPC + + @@ -65156,6 +72273,12 @@ KMT2A + + + + KMT2A + + @@ -65167,6 +72290,12 @@ myelopathy, htlv-1-associated myelopathy, htlv-1-associated + + + + HAM + + @@ -65239,6 +72368,12 @@ myoclonus-dystonia syndrome dystonia 11, myoclonic + + + + DYT11 + + @@ -65250,6 +72385,12 @@ spinal muscular atrophy with progressive myoclonic epilepsy spinal muscular atrophy with progressive myoclonic epilepsy + + + + SMAPME + + @@ -65275,6 +72416,12 @@ MYOD1 + + + + MYOD1 + + @@ -65298,6 +72445,12 @@ MYF5 + + + + MYF5 + + @@ -65321,6 +72474,12 @@ MB + + + + MB + + @@ -65371,6 +72530,12 @@ This term has one or more labels that end with ', INCLUDED'. episodic ataxia, type 1 + + + + EA1 + + @@ -65396,6 +72561,12 @@ myotubular myopathy, autosomal dominant myopathy, centronuclear, 1 + + + + CNM1 + + @@ -65428,6 +72599,12 @@ myopathy, late distal hereditary myopathy, distal, 1 + + + + MPD1 + + @@ -65450,6 +72627,12 @@ tubular aggregate myopathy myopathy, tubular aggregate, 1 + + + + TAM1 + + @@ -65476,6 +72659,12 @@ myopia 2, autosomal dominant myopia 2, autosomal dominant + + + + MYP2 + + @@ -65518,6 +72707,12 @@ myosin, heavy chain 6, cardiac muscle, alpha MYH6 + + + + MYH6 + + @@ -65560,6 +72755,12 @@ myosin, skeletal, heavy chain, embryonic 1 MYH3 + + + + MYH3 + + @@ -65587,6 +72788,12 @@ MYH2 + + + + MYH2 + + @@ -65618,6 +72825,12 @@ myosin, heavy chain, perinatal MYH8 + + + + MYH8 + + @@ -65656,6 +72869,12 @@ This term has one or more labels that end with ', INCLUDED'. MYH11 + + + + MYH11 + + @@ -65713,6 +72932,12 @@ myosin, heavy chain 7, cardiac muscle, beta MYH7 + + + + MYH7 + + @@ -65738,6 +72963,12 @@ MYL4 + + + + MYL4 + + @@ -65770,6 +73001,12 @@ nonmuscle myosin 2a MYH9 + + + + MYH9 + + @@ -65797,6 +73034,12 @@ MYO5A + + + + MYO5A + + @@ -65821,6 +73064,12 @@ MYL1 + + + + MYL1 + + @@ -65853,6 +73102,12 @@ rlc of myosin MYL2 + + + + MYL2 + + @@ -65880,6 +73135,12 @@ MYL3 + + + + MYL3 + + @@ -65915,6 +73176,12 @@ myosin-binding protein c, slow type MYBPC1 + + + + MYBPC1 + + @@ -65953,6 +73220,12 @@ steinert disease myotonic dystrophy 1 + + + + DM1 + + @@ -65968,6 +73241,12 @@ name syndrome carney complex, type 1 + + + + CNC1 + + @@ -65994,6 +73273,12 @@ nad(p)h:menadione oxidoreductase 1, dioxin-inducible 2 NQO2 + + + + NQO2 + + @@ -66006,6 +73291,12 @@ nfj syndrome naegeli-franceschetti-jadassohn syndrome + + + + NFJS + + @@ -66031,6 +73322,12 @@ NDUFV1 + + + + NDUFV1 + + @@ -66061,6 +73358,12 @@ This term has one or more labels that end with ', INCLUDED'. nail disorder, nonsyndromic congenital, 1 + + + + NDNC1 + + @@ -66102,6 +73405,12 @@ turner-kieser syndrome nail-patella syndrome + + + + NPS + + @@ -66128,6 +73437,12 @@ This term has one or more labels that end with ', INCLUDED'. narcolepsy 1 + + + + NRCLP1 + + @@ -66180,6 +73495,12 @@ nasopharyngeal carcinoma, susceptibility to, 2 nasopharyngeal carcinoma, susceptibility to, 2 + + + + NPCA2 + + @@ -66207,6 +73528,12 @@ IL12B + + + + IL12B + + @@ -66244,6 +73571,12 @@ nebulin NEB + + + + NEB + + @@ -66270,6 +73603,12 @@ nemaline myopathy 3, with intranuclear rods congenital myopathy 2a, typical, autosomal dominant + + + + CMYO2A + + @@ -66289,6 +73628,12 @@ renal failure, progressive, with hypertension renal failure, progressive, with hypertension + + + + RFH1 + + @@ -66309,6 +73654,12 @@ nephritis, iga type iga nephropathy, susceptibility to, 1 + + + + IGAN1 + + @@ -66338,6 +73689,12 @@ tubulointerstitial kidney disease, autosomal dominant, 1 tubulointerstitial kidney disease, autosomal dominant, 1 + + + + ADTKD1 + + @@ -66371,6 +73728,12 @@ NGF + + + + NGF + + @@ -66403,6 +73766,12 @@ neural retina-specific gene NRL + + + + NRL + + @@ -66416,6 +73785,12 @@ swnts1 schwannomatosis 1 + + + + SWN1 + + @@ -66441,6 +73816,12 @@ neuritis with brachial predilection amyotrophy, hereditary neuralgic + + + + HNA + + @@ -66473,6 +73854,12 @@ proprotein convertase, subtilisin/kexin-type, 1 PCSK1 + + + + PCSK1 + + @@ -66485,6 +73872,12 @@ von recklinghausen disease neurofibromatosis, type 1 + + + + NF1 + + @@ -66534,6 +73927,12 @@ nfh NEFH + + + + NEFH + + @@ -66560,6 +73959,12 @@ This term has one or more labels that end with ', INCLUDED'. neurofibromatosis, type iii, mixed central and peripheral + + + + NF3A + + @@ -66573,6 +73978,12 @@ nf 4 neurofibromatosis, type iv, of riccardi + + + + NF4 + + @@ -66609,6 +74020,12 @@ nf68 NEFL + + + + NEFL + + @@ -66626,6 +74043,12 @@ This term has one or more labels that end with ', INCLUDED'. multiple endocrine neoplasia, type 2b + + + + MEN2B + + @@ -66653,6 +74076,12 @@ TAC3 + + + + TAC3 + + @@ -66678,6 +74107,12 @@ TACR3 + + + + TACR3 + + @@ -66703,6 +74138,12 @@ ceroid lipofuscinosis, neuronal, parry type ceroid lipofuscinosis, neuronal, 4 (kufs type) + + + + CLN4 + + @@ -66734,6 +74175,12 @@ NHLH2 + + + + NHLH2 + + @@ -66777,6 +74224,12 @@ neuropathy, hereditary sensory, type 1a neuropathy, hereditary sensory and autonomic, type 1a + + + + HSAN1A + + @@ -66789,6 +74242,12 @@ tomaculous neuropathy neuropathy, hereditary, with liability to pressure palsies + + + + HNPP + + @@ -66828,6 +74287,12 @@ seven-transmembrane-segment receptor, spleen CXCR4 + + + + CXCR4 + + @@ -66864,6 +74329,12 @@ NTF4 + + + + NTF4 + + @@ -66948,6 +74419,12 @@ port-wine stain capillary malformations, congenital + + + + CMC + + @@ -66985,6 +74462,12 @@ sfm syndrome schimmelpenning-feuerstein-mims syndrome + + + + SFM + + @@ -67007,6 +74490,12 @@ night blindness, congenital stationary, rambusch type night blindness, congenital stationary, autosomal dominant 2 + + + + CSNBAD2 + + @@ -67084,6 +74573,12 @@ This term has one or more labels that end with ', INCLUDED'. NOS3 + + + + NOS3 + + @@ -67111,6 +74606,12 @@ NOS2 + + + + NOS2 + + @@ -67126,6 +74627,12 @@ sinus node disease, familial, autosomal dominant sick sinus syndrome 2 + + + + SSS2 + + @@ -67171,6 +74678,12 @@ synuclein, alpha SNCA + + + + SNCA + + @@ -67198,6 +74711,12 @@ This term has one or more labels that end with ', INCLUDED'. noonan syndrome 1 + + + + NS1 + + @@ -67233,6 +74752,12 @@ SLC6A2 + + + + SLC6A2 + + @@ -67274,6 +74799,12 @@ nuclear factor i/x NFIX + + + + NFIX + + @@ -67303,6 +74834,12 @@ NFKBIA + + + + NFKBIA + + @@ -67332,6 +74869,12 @@ CHMP1A + + + + CHMP1A + + @@ -67360,6 +74903,12 @@ NFKB1 + + + + NFKB1 + + @@ -67391,6 +74940,12 @@ NFKB2 + + + + NFKB2 + + @@ -67421,6 +74976,12 @@ RELA + + + + RELA + + @@ -67444,6 +75005,12 @@ MATR3 + + + + MATR3 + + @@ -67488,6 +75055,12 @@ nuclear ribonucleoprotein particle a1 protein HNRNPA1 + + + + HNRNPA1 + + @@ -67533,6 +75106,12 @@ HNRNPC + + + + HNRNPC + + @@ -67578,6 +75157,12 @@ NPM1 + + + + NPM1 + + @@ -67603,6 +75188,12 @@ PNP + + + + PNP + + @@ -67621,6 +75212,12 @@ nystagmus, congenital motor, 2 nystagmus 2, congenital, autosomal dominant + + + + NYS2 + + @@ -67654,6 +75251,12 @@ LEP + + + + LEP + + @@ -67685,6 +75288,12 @@ ocular cicatricial pemphigoid ocular cicatricial pemphigoid + + + + OCP + + @@ -67706,6 +75315,12 @@ odd syndrome oculodentodigital dysplasia + + + + ODDD + + @@ -67736,6 +75351,12 @@ oculoauriculovertebral spectrum craniofacial microsomia 1 + + + + CFM1 + + @@ -67749,6 +75370,12 @@ schilbach-rott syndrome schilbach-rott syndrome + + + + SBRS + + @@ -67759,6 +75386,12 @@ obsessive-compulsive disorder obsessive-compulsive disorder + + + + OCD + + @@ -67778,6 +75411,12 @@ oded syndrome feingold syndrome 1 + + + + FGLDS1 + + @@ -67802,6 +75441,12 @@ oculopharyngeal muscular dystrophy 1 oculopharyngeal muscular dystrophy 1 + + + + OPMD1 + + @@ -67815,6 +75460,12 @@ oculopharyngodistal myopathy 1 oculopharyngodistal myopathy 1 + + + + OPDM1 + + @@ -67849,6 +75500,12 @@ OAS1 + + + + OAS1 + + @@ -67889,6 +75546,12 @@ modifier of min 2, mouse, homolog of ATP5F1A + + + + ATP5F1A + + @@ -67920,6 +75583,12 @@ spinocerebellar atrophy 1 spinocerebellar ataxia 1 + + + + SCA1 + + @@ -67949,6 +75618,12 @@ spinocerebellar ataxia 7 spinocerebellar ataxia 7 + + + + SCA7 + + @@ -68037,6 +75712,12 @@ v-akt murine thymoma viral oncogene homolog 1 AKT1 + + + + AKT1 + + @@ -68069,6 +75750,12 @@ v-akt murine thymoma viral oncogene homolog 2 AKT2 + + + + AKT2 + + @@ -68093,6 +75780,12 @@ omodysplasia, autosomal dominant omodysplasia 2 + + + + OMOD2 + + @@ -68176,6 +75869,12 @@ This term has one or more labels that end with ', INCLUDED'. BRAF + + + + BRAF + + @@ -68226,6 +75925,12 @@ This term has one or more labels that end with ', INCLUDED'. RAF1 + + + + RAF1 + + @@ -68275,6 +75980,12 @@ This term has one or more labels that end with ', INCLUDED'. RET + + + + RET + + @@ -68308,6 +76019,12 @@ v-fms mcdonough feline sarcoma viral oncogene homolog, formerly CSF1R + + + + CSF1R + + @@ -68334,6 +76051,12 @@ SKI + + + + SKI + + @@ -68366,6 +76089,12 @@ p53-binding protein mdm2 MDM2 + + + + MDM2 + + @@ -68432,6 +76161,12 @@ oncogene nras NRAS + + + + NRAS + + @@ -68445,6 +76180,12 @@ onycholysis, partial, with scleronychia nail disorder, nonsyndromic congenital, 5 + + + + NDNC5 + + @@ -68476,6 +76217,12 @@ This term has one or more labels that end with ', INCLUDED'. WNT1 + + + + WNT1 + + @@ -68519,6 +76266,12 @@ v-myc avian myelocytomatosis viral-related oncogene, neuroblastoma-derived MYCN + + + + MYCN + + @@ -68568,6 +76321,12 @@ oncogene met MET + + + + MET + + @@ -68622,6 +76381,12 @@ This term has one or more labels that end with ', INCLUDED'. ERBB2 + + + + ERBB2 + + @@ -68649,6 +76414,12 @@ FOXG1 + + + + FOXG1 + + @@ -68703,6 +76474,12 @@ REL + + + + REL + + @@ -68753,6 +76530,12 @@ v-kit hardy-zuckerman 4 feline sarcoma viral oncogene homolog KIT + + + + KIT + + @@ -68780,6 +76563,12 @@ FGF3 + + + + FGF3 + + @@ -68797,6 +76586,12 @@ oncogene liposarcoma LPSA + + + + LPSA + + @@ -68831,6 +76626,12 @@ WNT5A + + + + WNT5A + + @@ -68878,6 +76679,12 @@ TRU-TCA1-1 + + + + TRU-TCA1-1 + + @@ -68910,6 +76717,12 @@ ERG + + + + ERG + + @@ -68944,6 +76757,12 @@ LYN + + + + LYN + + @@ -68980,6 +76799,12 @@ SPI1 + + + + SPI1 + + @@ -69003,6 +76828,12 @@ FGF5 + + + + FGF5 + + @@ -69031,6 +76862,12 @@ oncogene bmyc oncogene bmyc + + + + BMYC + + @@ -69060,6 +76897,12 @@ MECOM + + + + MECOM + + @@ -69090,6 +76933,12 @@ oncogene gli GLI1 + + + + GLI1 + + @@ -69119,6 +76968,12 @@ oncogene gli2 GLI2 + + + + GLI2 + + @@ -69160,6 +77015,12 @@ oncogene gli3 GLI3 + + + + GLI3 + + @@ -69170,6 +77031,12 @@ oncogene rmyc oncogene rmyc + + + + RMYC + + @@ -69182,6 +77049,12 @@ optic atrophy and cataract, autosomal dominant optic atrophy 3, autosomal dominant + + + + OPA3 + + @@ -69208,6 +77081,12 @@ WNT3 + + + + WNT3 + + @@ -69252,6 +77131,12 @@ This term has one or more labels that end with ', INCLUDED'. CBL + + + + CBL + + @@ -69278,6 +77163,12 @@ RHOA + + + + RHOA + + @@ -69301,6 +77192,12 @@ optic atrophy, kjer type optic atrophy 1 + + + + OPA1 + + @@ -69325,6 +77222,12 @@ optic atrophy with negative electroretinograms, formerly optic atrophy 13 with retinal and foveal abnormalities + + + + OPA13 + + @@ -69351,6 +77254,12 @@ orofaciodigital syndrome with fibular aplasia orofaciodigital syndrome 10 + + + + OFD10 + + @@ -69404,6 +77313,12 @@ ODC1 + + + + ODC1 + + @@ -69478,6 +77393,12 @@ osteoarthrosis osteoarthritis susceptibility 1 + + + + OS1 + + @@ -69489,6 +77410,12 @@ short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans + + + + SSOAOD + + @@ -69515,6 +77442,12 @@ osteogenesis imperfecta, type 1 osteogenesis imperfecta, type 1 + + + + OI1 + + @@ -69530,6 +77463,12 @@ vrolik type of osteogenesis imperfecta osteogenesis imperfecta, type 2 + + + + OI2 + + @@ -69543,6 +77482,12 @@ osteogenesis imperfecta, type 4 osteogenesis imperfecta, type 4 + + + + OI4 + + @@ -69572,6 +77517,12 @@ osteoglophonic dysplasia osteoglophonic dysplasia + + + + OGD + + @@ -69584,6 +77535,12 @@ osteogenesis imperfecta with unusual skeletal lesions gnathodiaphyseal dysplasia + + + + GDD + + @@ -69596,6 +77553,12 @@ osteolysis, hereditary, of carpal bones with or without nephropathy multicentric carpotarsal osteolysis syndrome + + + + MCTO + + @@ -69608,6 +77571,12 @@ osteoma cutis osseous heteroplasia, progressive + + + + POH + + @@ -69651,6 +77620,12 @@ osteosclerosis fragilis generalisata osteopetrosis, autosomal dominant 2 + + + + OPTA2 + + @@ -69669,6 +77644,12 @@ This term has one or more labels that end with ', INCLUDED'. buschke-ollendorff syndrome + + + + BOS + + @@ -69779,6 +77760,12 @@ otitis media, susceptibility to otitis media, susceptibility to + + + + OMS + + @@ -69791,6 +77778,12 @@ otofaciocervical syndrome 1 otofaciocervical syndrome 1 + + + + OTFCS + + @@ -69809,6 +77802,12 @@ ots otosclerosis 1 + + + + OTSC1 + + @@ -69823,6 +77822,12 @@ ovalocytosis, southeast asian ovalocytosis, southeast asian + + + + SAO + + @@ -69896,6 +77901,12 @@ urolithiasis, calcium oxalate nephrolithiasis, calcium oxalate, 1 + + + + CAON1 + + @@ -69910,6 +77921,12 @@ pho, autosomal dominant hypertrophic osteoarthropathy, primary, autosomal dominant + + + + PHOAD + + @@ -69923,6 +77940,12 @@ pachyonychia congenita, jadassohn-lewandowsky type, formerly pachyonychia congenita 1 + + + + PC1 + + @@ -69935,6 +77958,12 @@ pachyonychia congenita, jackson-lawler type, formerly pachyonychia congenita 2 + + + + PC2 + + @@ -69956,6 +77985,12 @@ paget disease of bone 3 paget disease of bone 3 + + + + PDB3 + + @@ -69981,6 +78016,12 @@ pagetoid neuroskeletal syndrome inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 + + + + IBMPFD1 + + @@ -69994,6 +78035,12 @@ rectal pain, familial paroxysmal extreme pain disorder + + + + PEXPD + + @@ -70022,6 +78069,12 @@ paired box gene 2 PAX2 + + + + PAX2 + + @@ -70053,6 +78106,12 @@ This term has one or more labels that end with ', INCLUDED'. PAX7 + + + + PAX7 + + @@ -70077,6 +78136,12 @@ PAX1 + + + + PAX1 + + @@ -70112,6 +78177,12 @@ paired domain gene 4 PAX4 + + + + PAX4 + + @@ -70139,6 +78210,12 @@ PAX5 + + + + PAX5 + + @@ -70165,6 +78242,12 @@ PAX8 + + + + PAX8 + + @@ -70189,6 +78272,12 @@ PAX9 + + + + PAX9 + + @@ -70215,6 +78304,12 @@ PRRX1 + + + + PRRX1 + + @@ -70255,6 +78350,12 @@ palpebral coloboma-lipoma syndrome nasopalpebral lipoma-coloboma syndrome + + + + NPLCS + + @@ -70303,6 +78404,12 @@ tumor-associated trypsin inhibitor SPINK1 + + + + SPINK1 + + @@ -70356,6 +78463,12 @@ This term has one or more labels that end with ', INCLUDED'. pancreatitis, hereditary + + + + PCTT + + @@ -70383,6 +78496,12 @@ panic disorder susceptibility locus, chromosome 13q-related panic disorder 1 + + + + PAND1 + + @@ -70395,6 +78514,12 @@ papillomatosis, reticulated and confluent, of gougerot and carteaud papillomatosis, confluent and reticulated + + + + CARP + + @@ -70415,6 +78540,12 @@ papillomavirus type 18 integration site 1 human papillomavirus type 18 integration site 1 + + + + HPV18I1 + + @@ -70426,6 +78557,12 @@ papillomavirus type 18 integration site 2 human papillomavirus type 18 integration site 2 + + + + HPV18I2 + + @@ -70446,6 +78583,12 @@ pheochromocytoma/paraganglioma syndrome 1 pheochromocytoma/paraganglioma syndrome 1 + + + + PPGL1 + + @@ -70480,6 +78623,12 @@ This term has one or more labels that end with ', INCLUDED'. paramyotonia congenita + + + + PMC + + @@ -70523,6 +78672,12 @@ PTH + + + + PTH + + @@ -70574,6 +78729,12 @@ This term has one or more labels that end with ', INCLUDED'. CCND1 + + + + CCND1 + + @@ -70618,6 +78779,12 @@ pth/pthrp receptor PTH1R + + + + PTH1R + + @@ -70644,6 +78811,12 @@ PTHLH + + + + PTHLH + + @@ -70661,6 +78834,12 @@ pfm parietal foramina 1 + + + + PFM1 + + @@ -70672,6 +78851,12 @@ parietal foramina with cleidocranial dysplasia parietal foramina with cleidocranial dysplasia + + + + PFMCCD + + @@ -70684,6 +78869,12 @@ parkinson disease, late-onset parkinson disease, late-onset + + + + PD + + @@ -70698,6 +78889,12 @@ This term has one or more labels that end with ', INCLUDED'. parkinson disease 1, autosomal dominant + + + + PARK1 + + @@ -70766,6 +78963,12 @@ This term has one or more labels that end with ', INCLUDED'. PON1 + + + + PON1 + + @@ -70800,6 +79003,12 @@ patella aplasia-hypoplasia patella aplasia-hypoplasia + + + + PTLAH + + @@ -70824,6 +79033,12 @@ paroxysmal tonic upgaze, benign childhood, with ataxia neuroocular syndrome 2, paroxysmal type + + + + NOC2 + + @@ -70853,6 +79068,12 @@ patent ductus arteriosus with facial dysmorphism and abnormal fifth digits char syndrome + + + + CHAR + + @@ -70867,6 +79088,12 @@ patterned dystrophy of retinal pigment epithelium macular dystrophy, patterned, 1 + + + + MDPT1 + + @@ -70906,6 +79133,12 @@ pelger-huet anomaly pelger-huet anomaly + + + + PHA + + @@ -70917,6 +79150,12 @@ pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly leukodystrophy, demyelinating, adult-onset, autosomal dominant + + + + ADLD + + @@ -70961,6 +79200,12 @@ pemphigus, benign familial hailey-hailey disease + + + + HHD + + @@ -70994,6 +79239,12 @@ DSG3 + + + + DSG3 + + @@ -71005,6 +79256,12 @@ pepsinogen i--second locus pepsinogen 3, group 1 + + + + PGA3 + + @@ -71058,6 +79315,12 @@ TAP1 + + + + TAP1 + + @@ -71089,6 +79352,12 @@ TAP2 + + + + TAP2 + + @@ -71125,6 +79394,12 @@ pore-forming protein PRF1 + + + + PRF1 + + @@ -71152,6 +79427,12 @@ NUP85 + + + + NUP85 + + @@ -71176,6 +79457,12 @@ PLIN1 + + + + PLIN1 + + @@ -71210,6 +79497,12 @@ hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis, type 1 + + + + HOKPP1 + + @@ -71224,6 +79517,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperkalemic periodic paralysis + + + + HYPP + + @@ -71276,6 +79575,12 @@ PRPH + + + + PRPH + + @@ -71300,6 +79605,12 @@ PMP2 + + + + PMP2 + + @@ -71338,6 +79649,12 @@ peroxidase, salivary peroxidase, salivary + + + + SAPX + + @@ -71370,6 +79687,12 @@ peroxisome biogenesis factor 2 PEX2 + + + + PEX2 + + @@ -71395,6 +79718,12 @@ ABCD3 + + + + ABCD3 + + @@ -71428,6 +79757,12 @@ + + + + + + ABCB1 atp-binding cassette, subfamily b, member 1 doxorubicin resistance @@ -71436,6 +79771,12 @@ p-glycoprotein 1 ABCB1 + + + + ABCB1 + + @@ -71472,6 +79813,12 @@ p-glycoprotein 3 ABCB4 + + + + ABCB4 + + @@ -71508,6 +79855,12 @@ This term has one or more labels that end with ', INCLUDED'. thiourea tasting + + + + THIOT + + @@ -71555,6 +79908,12 @@ This term has one or more labels that end with ', INCLUDED'. multiple endocrine neoplasia, type 2a + + + + MEN2A + + @@ -71607,6 +79966,12 @@ ACP5 + + + + ACP5 + + @@ -71626,6 +79991,12 @@ phosphatase, acid, of tissues ACP2 + + + + ACP2 + + @@ -71701,6 +80072,12 @@ alkaline phosphatase, tissue-nonspecific ALPL + + + + ALPL + + @@ -71738,6 +80115,12 @@ phosphatidylinositol 3-kinase-associated p85-alpha PIK3R1 + + + + PIK3R1 + + @@ -71848,6 +80231,12 @@ pik3-alpha PIK3CA + + + + PIK3CA + + @@ -71875,6 +80264,12 @@ phosphofructokinase, liver type PFKL + + + + PFKL + + @@ -71907,6 +80302,12 @@ PGM1 + + + + PGM1 + + @@ -71931,6 +80332,12 @@ PGM3 + + + + PGM3 + + @@ -71963,6 +80370,12 @@ phosphoglycoprotein 1 phosphoglycoprotein 1 + + + + PGP1 + + @@ -72000,6 +80413,12 @@ GPI + + + + GPI + + @@ -72028,6 +80447,12 @@ phospholamban PLN + + + + PLN + + @@ -72054,6 +80479,12 @@ PLA2G2A + + + + PLA2G2A + + @@ -72079,6 +80510,12 @@ PLCG1 + + + + PLCG1 + + @@ -72104,6 +80541,12 @@ PAICS + + + + PAICS + + @@ -72136,6 +80579,12 @@ methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase, nadp(+)-dependent MTHFD1 + + + + MTHFD1 + + @@ -72159,6 +80608,12 @@ PHKG2 + + + + PHKG2 + + @@ -72183,6 +80638,12 @@ PSPH + + + + PSPH + + @@ -72206,6 +80667,12 @@ PHKB + + + + PHKB + + @@ -72238,6 +80705,12 @@ piebaldism piebald trait + + + + PBT + + @@ -72271,6 +80744,12 @@ SERPINF1 + + + + SERPINF1 + + @@ -72281,6 +80760,12 @@ pigmented paravenous chorioretinal atrophy pigmented paravenous chorioretinal atrophy + + + + PPCRA + + @@ -72323,6 +80808,12 @@ pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant isolated growth hormone deficiency, type 2 + + + + IGHD2 + + @@ -72348,6 +80839,12 @@ POU1F1 + + + + POU1F1 + + @@ -72358,6 +80855,12 @@ pityriasis rubra pilaris pityriasis rubra pilaris + + + + PRP + + @@ -72385,6 +80888,12 @@ RNH1 + + + + RNH1 + + @@ -72411,6 +80920,12 @@ SERPINB6 + + + + SERPINB6 + + @@ -72443,6 +80958,12 @@ plakoglobin JUP + + + + JUP + + @@ -72496,6 +81017,12 @@ plasma cell membrane glycoprotein pc-1 ENPP1 + + + + ENPP1 + + @@ -72527,6 +81054,12 @@ This term has one or more labels that end with ', INCLUDED'. PLG + + + + PLG + + @@ -72551,6 +81084,12 @@ serpin peptidase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 1 SERPINE1 + + + + SERPINE1 + + @@ -72623,6 +81162,12 @@ This term has one or more labels that end with ', INCLUDED'. PDGFRB + + + + PDGFRB + + @@ -72679,6 +81224,12 @@ platelet glycoprotein iiia ITGB3 + + + + ITGB3 + + @@ -72711,6 +81262,12 @@ This term has one or more labels that end with ', INCLUDED'. PDGFRA + + + + PDGFRA + + @@ -72723,6 +81280,12 @@ This term has one or more labels that end with ', INCLUDED'. platelet groups--ko system + + + + HPA-2 + + @@ -72764,6 +81327,12 @@ thrombospondin receptor CD36 + + + + CD36 + + @@ -72789,6 +81358,12 @@ GP9 + + + + GP9 + + @@ -72808,6 +81383,12 @@ platelet membrane fluidity platelet membrane fluidity + + + + PMF + + @@ -72836,6 +81417,12 @@ pneumothorax, primary spontaneous pneumothorax, primary spontaneous + + + + PSP + + @@ -72861,6 +81448,12 @@ poikiloderma, hereditary acrokeratotic kindler syndrome + + + + KNDLRS + + @@ -72936,6 +81529,12 @@ potter type 3 polycystic kidney disease, formerly polycystic kidney disease 1 with or without polycystic liver disease + + + + PKD1 + + @@ -72962,6 +81561,12 @@ PKD2 + + + + PKD2 + + @@ -72989,6 +81594,12 @@ tubulointerstitial kidney disease, autosomal dominant, 2 tubulointerstitial kidney disease, autosomal dominant, 2 + + + + ADTKD2 + + @@ -73012,6 +81623,12 @@ polycystic liver disease 1 with or without kidney cysts polycystic liver disease 1 with or without kidney cysts + + + + PCLD1 + + @@ -73036,6 +81653,12 @@ This term has one or more labels that end with ', INCLUDED'. polydactyly, postaxial, type a1 + + + + PAPA1 + + @@ -73064,6 +81687,12 @@ thurston syndrome orofaciodigital syndrome 5 + + + + OFD5 + + @@ -73090,6 +81719,12 @@ This term has one or more labels that end with ', INCLUDED'. polydactyly, preaxial 1 + + + + PPD1 + + @@ -73105,6 +81740,12 @@ This term has one or more labels that end with ', INCLUDED'. polydactyly, preaxial 2 + + + + PPD2 + + @@ -73117,6 +81758,12 @@ polydactyly, preaxial 3 polydactyly, preaxial 3 + + + + PPD3 + + @@ -73131,6 +81778,12 @@ This term has one or more labels that end with ', INCLUDED'. polydactyly, preaxial 4 + + + + PPD4 + + @@ -73141,6 +81794,12 @@ polykaryocytosis inducer polykaryocytosis inducer + + + + FUSE + + @@ -73176,6 +81835,12 @@ polymerase, dna, delta POLD1 + + + + POLD1 + + @@ -73211,6 +81876,12 @@ polymerase, dna, epsilon-1 POLE + + + + POLE + + @@ -73260,6 +81931,12 @@ polymerase, dna, gamma-1 POLG + + + + POLG + + @@ -73285,6 +81962,12 @@ This term has one or more labels that end with ', INCLUDED'. mccune-albright syndrome + + + + MAS + + @@ -73298,6 +81981,12 @@ polyostotic osteolytic dysplasia, hereditary expansile familial expansile osteolysis + + + + FEO + + @@ -73314,6 +82003,12 @@ This term has one or more labels that end with ', INCLUDED'. juvenile polyposis syndrome + + + + JPS + + @@ -73347,6 +82042,12 @@ telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome + + + + JPHT + + @@ -73367,6 +82068,12 @@ This term has one or more labels that end with ', INCLUDED'. familial adenomatous polyposis 1 + + + + FAP1 + + @@ -73379,6 +82086,12 @@ polyps-and-spots syndrome peutz-jeghers syndrome + + + + PJS + + @@ -73428,6 +82141,12 @@ polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, formerly gist-plus syndrome + + + + GISTPS + + @@ -73448,6 +82167,12 @@ polysyndactyly with peculiar skull shape greig cephalopolysyndactyly syndrome + + + + GCPS + + @@ -73478,6 +82203,12 @@ retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant brain small vessel disease 1 with or without ocular anomalies + + + + BSVD1 + + @@ -73502,6 +82233,12 @@ porokeratosis of mibelli porokeratosis 1, multiple types + + + + POROK1 + + @@ -73523,6 +82260,12 @@ porokeratosis, palmar, plantar, and disseminated, 1 porokeratosis 2, palmar, plantar, and disseminated type + + + + POROK2 + + @@ -73534,6 +82277,12 @@ porokeratosis punctata palmaris et plantaris palmoplantar keratoderma, punctate type 2 + + + + PPKP2 + + @@ -73546,6 +82295,12 @@ porokeratosis, disseminated superficial actinic, 1 porokeratosis 3, multiple types + + + + POROK3 + + @@ -73564,6 +82319,12 @@ This term has one or more labels that end with ', INCLUDED'. porphyria, acute intermittent + + + + AIP + + @@ -73616,6 +82377,12 @@ variegate porphyria variegate porphyria + + + + VP + + @@ -73658,6 +82425,12 @@ KCNC2 + + + + KCNC2 + + @@ -73683,6 +82456,12 @@ KCNC1 + + + + KCNC1 + + @@ -73708,6 +82487,12 @@ KCNA1 + + + + KCNA1 + + @@ -73738,6 +82523,12 @@ potassium channel, voltage-gated, isk-related subfamily, member 1 KCNE1 + + + + KCNE1 + + @@ -73763,6 +82554,12 @@ KCNA2 + + + + KCNA2 + + @@ -73786,6 +82583,12 @@ KCNC3 + + + + KCNC3 + + @@ -73815,6 +82618,12 @@ KCNA4 + + + + KCNA4 + + @@ -73842,6 +82651,12 @@ KCNA5 + + + + KCNA5 + + @@ -73871,6 +82686,12 @@ This term has one or more labels that end with ', INCLUDED'. prader-willi syndrome + + + + PWS + + @@ -73907,6 +82728,12 @@ transthyretin TTR + + + + TTR + + @@ -73943,6 +82770,12 @@ PBX1 + + + + PBX1 + + @@ -73954,6 +82787,12 @@ precocious puberty, central, 1 precocious puberty, central, 1 + + + + CPPB1 + + @@ -73978,6 +82817,12 @@ total premature chromatid separation trait premature chromatid separation trait + + + + PCS + + @@ -74057,6 +82902,12 @@ PFN1 + + + + PFN1 + + @@ -74100,6 +82951,12 @@ PRIM1 + + + + PRIM1 + + @@ -74154,6 +83011,12 @@ prp PRNP + + + + PRNP + + @@ -74168,6 +83031,12 @@ This term has one or more labels that end with ', INCLUDED'. hutchinson-gilford progeria syndrome + + + + HGPS + + @@ -74221,6 +83090,12 @@ PHB + + + + PHB + + @@ -74265,6 +83140,12 @@ This term has one or more labels that end with ', INCLUDED'. INS + + + + INS + + @@ -74289,6 +83170,12 @@ PCNA + + + + PCNA + + @@ -74317,6 +83204,12 @@ prolactin receptor PRLR + + + + PRLR + + @@ -74343,6 +83236,12 @@ PRDX1 + + + + PRDX1 + + @@ -74353,6 +83252,12 @@ proline-negative auxotroph of hamster, complementation of proline-negative auxotroph of hamster, complementation of + + + + PROA + + @@ -74403,6 +83308,12 @@ P4HB + + + + P4HB + + @@ -74423,6 +83334,12 @@ This term has one or more labels that end with ', INCLUDED'. ZBTB16 + + + + ZBTB16 + + @@ -74485,6 +83402,12 @@ This term has one or more labels that end with ', INCLUDED'. PSAP + + + + PSAP + + @@ -74508,6 +83431,12 @@ PTGER2 + + + + PTGER2 + + @@ -74551,6 +83480,12 @@ This term has one or more labels that end with ', INCLUDED'. POMC + + + + POMC + + @@ -74582,6 +83517,12 @@ proteasome subunit mecl1 PSMB10 + + + + PSMB10 + + @@ -74597,6 +83538,12 @@ This term has one or more labels that end with ', INCLUDED'. thrombophilia due to protein c deficiency, autosomal dominant + + + + THPH3 + + @@ -74628,6 +83575,12 @@ protein kinase, interferon-inducible double-stranded rna-activated EIF2AK2 + + + + EIF2AK2 + + @@ -74659,6 +83612,12 @@ protein kinase, mitogen-activated, kinase 1 MAP2K1 + + + + MAP2K1 + + @@ -74709,6 +83668,12 @@ tyrosine phosphatase shp2 PTPN11 + + + + PTPN11 + + @@ -74742,6 +83707,12 @@ This term has one or more labels that end with ', INCLUDED'. PROS1 + + + + PROS1 + + @@ -74767,6 +83738,12 @@ PTPN1 + + + + PTPN1 + + @@ -74791,6 +83768,12 @@ PRKACB + + + + PRKACB + + @@ -74815,6 +83798,12 @@ PRKACG + + + + PRKACG + + @@ -74843,6 +83832,12 @@ PRKG1 + + + + PRKG1 + + @@ -74868,6 +83863,12 @@ PROZ + + + + PROZ + + @@ -74902,6 +83903,12 @@ PRKAR1B + + + + PRKAR1B + + @@ -74926,6 +83933,12 @@ PPP2CA + + + + PPP2CA + + @@ -74981,6 +83994,12 @@ thrombin F2 + + + + F2 + + @@ -75004,6 +84023,12 @@ TYK2 + + + + TYK2 + + @@ -75092,6 +84117,12 @@ This term has one or more labels that end with ', INCLUDED'. FGFR2 + + + + FGFR2 + + @@ -75125,6 +84156,12 @@ EPHA2 + + + + EPHA2 + + @@ -75156,6 +84193,12 @@ zeta-chain-associated protein kinase ZAP70 + + + + ZAP70 + + @@ -75184,6 +84227,12 @@ MAPK1 + + + + MAPK1 + + @@ -75210,6 +84259,12 @@ protein kinase c, alpha PRKCA + + + + PRKCA + + @@ -75234,6 +84289,12 @@ PRKCD + + + + PRKCD + + @@ -75258,6 +84319,12 @@ PRKCG + + + + PRKCG + + @@ -75285,6 +84352,12 @@ protoporphyria, erythropoietic, 1 protoporphyria, erythropoietic, 1 + + + + EPP1 + + @@ -75321,6 +84394,12 @@ PSMB9 + + + + PSMB9 + + @@ -75348,6 +84427,12 @@ PSMB8 + + + + PSMB8 + + @@ -75384,6 +84469,12 @@ PRKCSH + + + + PRKCSH + + @@ -75407,6 +84498,12 @@ EPB42 + + + + EPB42 + + @@ -75437,6 +84534,12 @@ v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog MAF + + + + MAF + + @@ -75467,6 +84570,12 @@ spondyloepiphyseal dysplasia, pseudoachondroplastic pseudoachondroplasia + + + + PSACH + + @@ -75481,6 +84590,12 @@ pseudohyperaldosteronism liddle syndrome 1 + + + + LIDLS1 + + @@ -75525,6 +84640,12 @@ pseudocholinesterase e1 BCHE + + + + BCHE + + @@ -75569,6 +84690,12 @@ pseudoexfoliation syndrome exfoliation syndrome + + + + XFS + + @@ -75585,6 +84712,12 @@ glaucoma 1, open angle, p glaucoma 1, open angle, p + + + + GLC1P + + @@ -75606,6 +84739,12 @@ pseudohypoaldosteronism, type i, autosomal dominant pseudohypoaldosteronism, type i, autosomal dominant + + + + PHA1A + + @@ -75637,6 +84776,12 @@ von willebrand disease, platelet-type von willebrand disease, platelet-type + + + + VWDP + + @@ -75669,6 +84814,12 @@ psoriasis 1, susceptibility to psoriasis 1, susceptibility to + + + + PSORS1 + + @@ -75713,6 +84864,12 @@ pterygium syndrome, multiple contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a + + + + CPSFS1A + + @@ -75738,6 +84895,12 @@ ptosis, hereditary congenital 1 ptosis, hereditary congenital 1 + + + + PTOS1 + + @@ -75817,6 +84980,12 @@ This term has one or more labels that end with ', INCLUDED'. interstitial lung disease 2 + + + + ILD2 + + @@ -75844,6 +85013,12 @@ This term has one or more labels that end with ', INCLUDED'. pulmonary hypertension, primary, 1 + + + + PPH1 + + @@ -75881,6 +85056,12 @@ SFTPC + + + + SFTPC + + @@ -75908,6 +85089,12 @@ SFTPA1 + + + + SFTPA1 + + @@ -75935,6 +85122,12 @@ SFTPB + + + + SFTPB + + @@ -75960,6 +85153,12 @@ SFTPA2 + + + + SFTPA2 + + @@ -76008,6 +85207,12 @@ pruritic urticarial papules and plaques of pregnancy pruritic urticarial papules and plaques of pregnancy + + + + PUPPP + + @@ -76036,6 +85241,12 @@ pyloric stenosis, infantile hypertrophic, 1 pyloric stenosis, infantile hypertrophic, 1 + + + + IHPS1 + + @@ -76062,6 +85273,12 @@ PDXK + + + + PDXK + + @@ -76091,6 +85308,12 @@ pyrroline-5-carboxylate reductase 1 PYCR1 + + + + PYCR1 + + @@ -76124,6 +85347,12 @@ PDHB + + + + PDHB + + @@ -76149,6 +85378,12 @@ PDHA2 + + + + PDHA2 + + @@ -76204,6 +85439,12 @@ radioulnar synostosis, nonsyndromic, susceptibility to radioulnar synostosis, nonsyndromic, susceptibility to + + + + RUS + + @@ -76236,6 +85477,12 @@ RDX + + + + RDX + + @@ -76288,6 +85535,12 @@ RAP1GDS1 + + + + RAP1GDS1 + + @@ -76311,6 +85564,12 @@ RAP1B + + + + RAP1B + + @@ -76336,6 +85595,12 @@ RALA + + + + RALA + + @@ -76361,6 +85626,12 @@ PTPRF + + + + PTPRF + + @@ -76421,6 +85692,12 @@ retinal degeneration, slow, mouse, homolog of PRPH2 + + + + PRPH2 + + @@ -76473,6 +85750,12 @@ recombination-activating gene 1 RAG1 + + + + RAG1 + + @@ -76507,6 +85790,12 @@ recombination-activating gene 2 RAG2 + + + + RAG2 + + @@ -76545,6 +85834,12 @@ recombination protein a RAD51 + + + + RAD51 + + @@ -76613,6 +85908,12 @@ PRCC + + + + PRCC + + @@ -76646,6 +85947,12 @@ rta, gradient type renal tubular acidosis, distal, 1 + + + + DRTA1 + + @@ -76674,6 +85981,12 @@ renin REN + + + + REN + + @@ -76711,6 +86024,12 @@ RPA1 + + + + RPA1 + + @@ -76733,6 +86052,12 @@ reticular pigment anomaly of flexures dowling-degos disease 1 + + + + DDD1 + + @@ -76754,6 +86079,12 @@ retinal hemorrhage with vascular tortuosity retinal arteries, tortuosity of + + + + RATOR + + @@ -76772,6 +86103,12 @@ retinal cone dystrophy 1 retinal cone dystrophy 1 + + + + RCD1 + + @@ -76798,6 +86135,12 @@ RD3 + + + + RD3 + + @@ -76850,6 +86193,12 @@ retinoid isomerohydrolase rpe65 RPE65 + + + + RPE65 + + @@ -76884,6 +86233,12 @@ PDE6A + + + + PDE6A + + @@ -76916,6 +86271,12 @@ retinal rod photoreceptor cgmp phosphodiesterase, beta subunit PDE6B + + + + PDE6B + + @@ -76941,6 +86302,12 @@ PDE6G + + + + PDE6G + + @@ -76985,6 +86352,12 @@ retinaldehyde-binding protein 1 RLBP1 + + + + RLBP1 + + @@ -77008,6 +86381,12 @@ retinitis pigmentosa 1 retinitis pigmentosa 1 + + + + RP1 + + @@ -77049,6 +86428,12 @@ retinitis pigmentosa 9 retinitis pigmentosa 9 + + + + RP9 + + @@ -77060,6 +86445,12 @@ retinitis pigmentosa 10 retinitis pigmentosa 10 + + + + RP10 + + @@ -77071,6 +86462,12 @@ retinoblastoma retinoblastoma + + + + RB1 + + @@ -77097,6 +86494,12 @@ KDM5A + + + + KDM5A + + @@ -77123,6 +86526,12 @@ RBL2 + + + + RBL2 + + @@ -77159,6 +86568,12 @@ RARB + + + + RARB + + @@ -77182,6 +86597,12 @@ This term has one or more labels that end with ', INCLUDED'. RARA + + + + RARA + + @@ -77211,6 +86632,12 @@ retinol-binding protein, plasma RBP4 + + + + RBP4 + + @@ -77245,6 +86672,12 @@ RBP3 + + + + RBP3 + + @@ -77255,6 +86688,12 @@ rhabdomyosarcoma, embryonal, 2 rhabdomyosarcoma, embryonal, 2 + + + + RMSE2 + + @@ -77285,6 +86724,12 @@ rhesus blood group-associated glycoprotein RHAG + + + + RHAG + + @@ -77338,6 +86783,12 @@ rheumatoid arthritis, susceptibility to rheumatoid arthritis + + + + RA + + @@ -77401,6 +86852,12 @@ rhodopsin RHO + + + + RHO + + @@ -77427,6 +86884,12 @@ GRK1 + + + + GRK1 + + @@ -77446,6 +86909,12 @@ t-cell translocation gene 2 LMO2 + + + + LMO2 + + @@ -77472,6 +86941,12 @@ RRM1 + + + + RRM1 + + @@ -77496,6 +86971,12 @@ RPIA + + + + RPIA + + @@ -77522,6 +87003,12 @@ RNASEL + + + + RNASEL + + @@ -77563,6 +87050,12 @@ RPL35A + + + + RPL35A + + @@ -77591,6 +87084,12 @@ RPS17 + + + + RPS17 + + @@ -77605,6 +87104,12 @@ rieger syndrome, type 1 axenfeld-rieger syndrome, type 1 + + + + RIEG1 + + @@ -77623,6 +87128,12 @@ ring dermoid of cornea ring dermoid of cornea + + + + RDC + + @@ -77659,6 +87170,12 @@ POLR2A + + + + POLR2A + + @@ -77685,6 +87202,12 @@ robinow syndrome, autosomal dominant 1 robinow syndrome, autosomal dominant 1 + + + + DRS1 + + @@ -77717,6 +87240,12 @@ ROM1 + + + + ROM1 + + @@ -77770,6 +87299,12 @@ rubinstein-taybi syndrome 1 rubinstein-taybi syndrome 1 + + + + RSTS1 + + @@ -77792,6 +87327,12 @@ silver-russell syndrome 1 silver-russell syndrome 1 + + + + SRS1 + + @@ -77855,6 +87396,12 @@ skeletal muscle ryanodine receptor RYR1 + + + + RYR1 + + @@ -77884,6 +87431,12 @@ ryanodine receptor, cardiac RYR2 + + + + RYR2 + + @@ -77908,6 +87461,12 @@ RYR3 + + + + RYR3 + + @@ -77921,6 +87480,12 @@ This term has one or more labels that end with ', INCLUDED'. aplasia of lacrimal and salivary glands + + + + ALSG + + @@ -77974,6 +87539,12 @@ AHCY + + + + AHCY + + @@ -77986,6 +87557,12 @@ sarcoidosis, susceptibility to, 1 sarcoidosis, susceptibility to, 1 + + + + SS1 + + @@ -78045,6 +87622,12 @@ s-arrestin SAG + + + + SAG + + @@ -78097,6 +87680,12 @@ sen syndrome scalp-ear-nipple syndrome + + + + SENS + + @@ -78125,6 +87714,12 @@ scapuloilioperoneal atrophy with cardiopathy emery-dreifuss muscular dystrophy 2, autosomal dominant + + + + EDMD2 + + @@ -78138,6 +87733,12 @@ stark-kaeser syndrome scapuloperoneal syndrome, neurogenic, kaeser type + + + + SCPNK + + @@ -78149,6 +87750,12 @@ scapuloperoneal spinal muscular atrophy scapuloperoneal spinal muscular atrophy + + + + SPSMA + + @@ -78193,6 +87800,12 @@ ulnar-mammary syndrome ulnar-mammary syndrome + + + + UMS + + @@ -78244,6 +87857,12 @@ schizophrenia with or without an affective disorder schizophrenia + + + + SCZD + + @@ -78268,6 +87887,12 @@ schizophrenia susceptibility locus, chromosome 5-related schizophrenia 1 + + + + SCZD1 + + @@ -78309,6 +87934,12 @@ STIL + + + + STIL + + @@ -78321,6 +87952,12 @@ sclerotylosis huriez syndrome + + + + HRZ + + @@ -78360,6 +87997,12 @@ scoliosis, isolated, susceptibility to, 1 scoliosis, isolated, susceptibility to, 1 + + + + IS1 + + @@ -78399,6 +88042,12 @@ secretor factor FUT2 + + + + FUT2 + + @@ -78424,6 +88073,12 @@ SPARC + + + + SPARC + + @@ -78447,6 +88102,12 @@ SPR + + + + SPR + + @@ -78483,6 +88144,12 @@ serotonin 5-ht-2a receptor HTR2A + + + + HTR2A + + @@ -78514,6 +88181,12 @@ solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 SLC6A4 + + + + SLC6A4 + + @@ -78542,6 +88215,12 @@ anemia, sideroblastic, 4 anemia, sideroblastic, 4 + + + + SIDBA4 + + @@ -78607,6 +88286,12 @@ shprintzen-goldberg craniosynostosis syndrome shprintzen-goldberg craniosynostosis syndrome + + + + SGS + + @@ -78642,6 +88327,12 @@ singleton-merten syndrome 1 singleton-merten syndrome 1 + + + + SGMRT1 + + @@ -78671,6 +88362,12 @@ small proline-rich protein 2c, pseudogene small proline-rich protein 2c, pseudogene + + + + SPRR2C + + @@ -78721,6 +88418,12 @@ SNRPB + + + + SNRPB + + @@ -78746,6 +88449,12 @@ small inducible cytokine a3 CCL3 + + + + CCL3 + + @@ -78771,6 +88480,12 @@ This term has one or more labels that end with ', INCLUDED'. smith-magenis syndrome + + + + SMS + + @@ -78796,6 +88511,12 @@ SLC9A3 + + + + SLC9A3 + + @@ -78834,6 +88555,12 @@ solute carrier family 34 (type 2 sodium/phosphate cotransporter), member 1 SLC34A1 + + + + SLC34A1 + + @@ -78864,6 +88591,12 @@ sodium-potassium-atpase, alpha-1 polypeptide ATP1A1 + + + + ATP1A1 + + @@ -78887,6 +88620,12 @@ na,k-atpase beta-1 polypeptide ATP1B1 + + + + ATP1B1 + + @@ -78930,6 +88669,12 @@ sodium-potassium-atpase, alpha-2 polypeptide ATP1A2 + + + + ATP1A2 + + @@ -78972,6 +88717,12 @@ sodium-potassium-atpase, alpha-3 polypeptide ATP1A3 + + + + ATP1A3 + + @@ -79007,6 +88758,12 @@ SLC5A1 + + + + SLC5A1 + + @@ -79033,6 +88790,12 @@ SLC5A2 + + + + SLC5A2 + + @@ -79076,6 +88839,12 @@ sodium voltage-gated channel, alpha subunit 1 SCN1A + + + + SCN1A + + @@ -79114,6 +88883,12 @@ sodium voltage-gated channel, alpha subunit 2 SCN2A + + + + SCN2A + + @@ -79146,6 +88921,12 @@ sodium voltage-gated channel, alpha subunit 3 SCN3A + + + + SCN3A + + @@ -79171,6 +88952,12 @@ SLC10A1 + + + + SLC10A1 + + @@ -79191,6 +88978,12 @@ sneddon syndrome sneddon syndrome + + + + SNDNS + + @@ -79214,6 +89007,12 @@ SON + + + + SON + + @@ -79240,6 +89039,12 @@ SORD + + + + SORD + + @@ -79270,6 +89075,12 @@ sos1 guanine nucleotide exchange factor SOS1 + + + + SOS1 + + @@ -79284,6 +89095,12 @@ strumpell disease spastic paraplegia 3, autosomal dominant + + + + SPG3A + + @@ -79308,6 +89125,12 @@ spastic paraplegia 4, autosomal dominant spastic paraplegia 4, autosomal dominant + + + + SPG4 + + @@ -79319,6 +89142,12 @@ spastic paraplegia, epilepsy, and mental retardation spastic paraplegia, epilepsy, and impaired intellectual development + + + + SPEMR + + @@ -79367,6 +89196,12 @@ SPTBN1 + + + + SPTBN1 + + @@ -79419,6 +89254,12 @@ spectrin, nonerythroid, alpha subunit SPTAN1 + + + + SPTAN1 + + @@ -79481,6 +89322,12 @@ spectrin, alpha, erythrocytic 1 SPTA1 + + + + SPTA1 + + @@ -79510,6 +89357,12 @@ spectrin, beta-i SPTB + + + + SPTB + + @@ -79537,6 +89390,12 @@ sperm protamine p4 sperm protamine p4 + + + + PRM4 + + @@ -79561,6 +89420,12 @@ ZP2 + + + + ZP2 + + @@ -79588,6 +89453,12 @@ ZP3 + + + + ZP3 + + @@ -79621,6 +89492,12 @@ spherocytosis, type 1 spherocytosis, type 1 + + + + SPH1 + + @@ -79675,6 +89552,12 @@ This term has one or more labels that end with ', INCLUDED'. neural tube defects, susceptibility to + + + + NTD + + @@ -79706,6 +89589,12 @@ spinal muscular atrophy, distal, juvenile, autosomal dominant, harding type 1 neuronopathy, distal hereditary motor, autosomal dominant 1 + + + + HMND1 + + @@ -79728,6 +89617,12 @@ spinal muscular atrophy, proximal, adult, autosomal dominant spinal muscular atrophy, late-onset, finkel type + + + + SMAFK + + @@ -79784,6 +89679,12 @@ spinocerebellar ataxia 6 spinocerebellar ataxia 6 + + + + SCA6 + + @@ -79805,6 +89706,12 @@ This term has one or more labels that end with ', INCLUDED'. spinocerebellar ataxia 2 + + + + SCA2 + + @@ -79877,6 +89784,12 @@ split-hand/foot malformation 1 with or without deafness split-hand/foot malformation 1 + + + + SHFM1 + + @@ -79924,6 +89837,12 @@ spondyloarthropathy, susceptibility to, 2 spondyloarthropathy, susceptibility to, 2 + + + + SPDA2 + + @@ -79955,6 +89874,12 @@ spondyloepiphyseal dysplasia, congenital type spondyloepiphyseal dysplasia congenita + + + + SEDC + + @@ -80018,6 +89943,12 @@ strudwick syndrome spondyloepimetaphyseal dysplasia, strudwick type + + + + SEMDSTWK + + @@ -80030,6 +89961,12 @@ spondylometaphyseal dysplasia, kozlowski type spondylometaphyseal dysplasia, kozlowski type + + + + SMDK + + @@ -80053,6 +89990,12 @@ spondylometaphyseal dysplasia, sutcliffe type spondylometaphyseal dysplasia, corner fracture type + + + + SMDCF + + @@ -80067,6 +90010,12 @@ spondylometaphyseal dysplasia with dentinogenesis imperfecta odontochondrodysplasia 1 + + + + ODCD1 + + @@ -80110,6 +90059,12 @@ FDFT1 + + + + FDFT1 + + @@ -80133,6 +90088,12 @@ sry-related hmg-box gene 2 SOX2 + + + + SOX2 + + @@ -80158,6 +90119,12 @@ SOX4 + + + + SOX4 + + @@ -80170,6 +90137,12 @@ stuttering, familial persistent, 1 stuttering, familial persistent, 1 + + + + STUT1 + + @@ -80226,6 +90199,12 @@ CSTA + + + + CSTA + + @@ -80255,6 +90234,12 @@ stein-leventhal syndrome polycystic ovary syndrome 1 + + + + PCOS1 + + @@ -80309,6 +90294,12 @@ steel, mouse, homolog of KITLG + + + + KITLG + + @@ -80351,6 +90342,12 @@ SCP2 + + + + SCP2 + + @@ -80380,6 +90377,12 @@ sterol regulatory element-binding transcription factor 1 SREBF1 + + + + SREBF1 + + @@ -80424,6 +90427,12 @@ steroidogenic factor 1 NR5A1 + + + + NR5A1 + + @@ -80448,6 +90457,12 @@ weissenbacher-zweymuller syndrome otospondylomegaepiphyseal dysplasia, autosomal dominant + + + + OSMEDA + + @@ -80462,6 +90477,12 @@ This term has one or more labels that end with ', INCLUDED'. stiff-person syndrome + + + + SPS + + @@ -80472,6 +90493,12 @@ stiff skin syndrome stiff skin syndrome + + + + SSKS + + @@ -80484,6 +90511,12 @@ potassium-sodium disorder of erythrocyte overhydrated hereditary stomatocytosis + + + + OHST + + @@ -80504,6 +90537,12 @@ stomatocytosis, cold-sensitive cryohydrocytosis + + + + CHC + + @@ -80534,6 +90573,12 @@ york platelet syndrome stormorken syndrome + + + + STRMK + + @@ -80595,6 +90640,12 @@ MMP3 + + + + MMP3 + + @@ -80605,6 +90656,12 @@ sturge-weber syndrome sturge-weber syndrome + + + + SWS + + @@ -80676,6 +90733,12 @@ succinate dehydrogenase complex, subunit b, iron-sulfur protein SDHB + + + + SDHB + + @@ -80706,6 +90769,12 @@ This term has one or more labels that end with ', INCLUDED'. SOD3 + + + + SOD3 + + @@ -80717,6 +90786,12 @@ supravalvular aortic stenosis supravalvular aortic stenosis + + + + SVAS + + @@ -80750,6 +90825,12 @@ tumor-associated calcium signal transducer 1 EPCAM + + + + EPCAM + + @@ -80803,6 +90884,12 @@ SYT1 + + + + SYT1 + + @@ -80842,6 +90929,12 @@ surfeit 1 SURF1 + + + + SURF1 + + @@ -80885,6 +90978,12 @@ symphalangism, proximal, 1a symphalangism, proximal, 1a + + + + SYM1A + + @@ -80909,6 +91008,12 @@ SV2A + + + + SV2A + + @@ -80938,6 +91043,12 @@ vesicle-associated membrane protein 1 VAMP1 + + + + VAMP1 + + @@ -80962,6 +91073,12 @@ VAMP2 + + + + VAMP2 + + @@ -80993,6 +91110,12 @@ synpolydactyly 1 synpolydactyly 1 + + + + SPD1 + + @@ -81005,6 +91128,12 @@ syndactyly, type 3 syndactyly, type 3 + + + + SDTY3 + + @@ -81018,6 +91147,12 @@ syndactyly, type 4 syndactyly, type 4 + + + + SDTY4 + + @@ -81029,6 +91164,12 @@ syndactyly, type 5 syndactyly, type 5 + + + + SDTY5 + + @@ -81065,6 +91206,12 @@ SDC3 + + + + SDC3 + + @@ -81091,6 +91238,12 @@ wl syndrome multiple synostoses syndrome 1 + + + + SYNS1 + + @@ -81109,6 +91262,12 @@ synostosis, carpal, with dysplastic elbow joints and brachydactyly liebenberg syndrome + + + + LBNBG + + @@ -81121,6 +91280,12 @@ This term has one or more labels that end with ', INCLUDED'. tarsal-carpal coalition syndrome + + + + TCC + + @@ -81146,6 +91311,12 @@ sarcoidosis, early-onset blau syndrome + + + + BLAUS + + @@ -81172,6 +91343,12 @@ STX4 + + + + STX4 + + @@ -81233,6 +91410,12 @@ CD27 + + + + CD27 + + @@ -81258,6 +91441,12 @@ CD3G + + + + CD3G + + @@ -81292,6 +91481,12 @@ CD28 + + + + CD28 + + @@ -81318,6 +91513,12 @@ CD247 + + + + CD247 + + @@ -81344,6 +91545,12 @@ CD3D + + + + CD3D + + @@ -81368,6 +91575,12 @@ t-cell antigen receptor complex, epsilon subunit of t3 CD3E + + + + CD3E + + @@ -81392,6 +91605,12 @@ CD81 + + + + CD81 + + @@ -81426,6 +91645,12 @@ PSMC3 + + + + PSMC3 + + @@ -81450,6 +91675,12 @@ SLC6A6 + + + + SLC6A6 + + @@ -81473,6 +91704,12 @@ TAL2 + + + + TAL2 + + @@ -81489,6 +91726,12 @@ t-cell leukemia/lymphoma 4 TCL4 + + + + TCL4 + + @@ -81512,6 +91755,12 @@ TRAC + + + + TRAC + + @@ -81550,6 +91799,12 @@ CD8A + + + + CD8A + + @@ -81579,6 +91834,12 @@ t-cell translocation gene 1 LMO1 + + + + LMO1 + + @@ -81608,6 +91869,12 @@ t-cell antigen t4/leu3 CD4 + + + + CD4 + + @@ -81635,6 +91902,12 @@ tcl1 TCL1A + + + + TCL1A + + @@ -81660,6 +91933,12 @@ ITK + + + + ITK + + @@ -81707,6 +91986,12 @@ t cell-specific rantes CCL5 + + + + CCL5 + + @@ -81717,6 +92002,12 @@ t-complex locus tcp10b t-complex locus tcp10b + + + + TCP10B + + @@ -81742,6 +92033,12 @@ TAL1 + + + + TAL1 + + @@ -81820,6 +92117,12 @@ telomerase reverse transcriptase TERT + + + + TERT + + @@ -81830,6 +92133,12 @@ temperature sensitivity complementation, cell cycle specific, h142 temperature sensitivity complementation, cell cycle specific, h142 + + + + H142T + + @@ -81857,6 +92166,12 @@ telangiectasia, hereditary hemorrhagic, type 1 telangiectasia, hereditary hemorrhagic, type 1 + + + + HHT1 + + @@ -81877,6 +92192,12 @@ temperature sensitivity complementation, cell cycle specific, ts13 temperature sensitivity complementation, cell cycle specific, ts13 + + + + TS13 + + @@ -81887,6 +92208,12 @@ temperature sensitivity complementation, cell cycle specific, ts546 temperature sensitivity complementation, cell cycle specific, ts546 + + + + TS546 + + @@ -81936,6 +92263,12 @@ tendo calcaneus, short arthrogryposis, distal, type 10 + + + + DA10 + + @@ -81962,6 +92295,12 @@ TNC + + + + TNC + + @@ -81999,6 +92338,12 @@ tetralogy of fallot tetralogy of fallot + + + + TOF + + @@ -82041,6 +92386,12 @@ CLEC3B + + + + CLEC3B + + @@ -82064,6 +92415,12 @@ thanatophoric dysplasia, type 1 thanatophoric dysplasia, type 1 + + + + TD1 + + @@ -82077,6 +92434,12 @@ thanatophoric dysplasia, type 2 thanatophoric dysplasia, type 2 + + + + TD2 + + @@ -82109,6 +92472,12 @@ TPMT + + + + TPMT + + @@ -82129,6 +92498,12 @@ thoracolaryngopelvic dysplasia thoracolaryngopelvic dysplasia + + + + TLPD + + @@ -82163,6 +92538,12 @@ TARS1 + + + + TARS1 + + @@ -82175,6 +92556,12 @@ glanzmann thrombasthenia-like with macrothrombocytopenia 1 bleeding disorder, platelet-type, 16 + + + + BDPLT16 + + @@ -82199,6 +92586,12 @@ thrombasthenia-thrombocytopenia, hereditary bleeding disorder, platelet-type, 17 + + + + BDPLT17 + + @@ -82209,6 +92602,12 @@ thrombocyte B thrombocyte B + + + + THB + + @@ -82221,6 +92620,12 @@ thrombocytosis 1 thrombocythemia 1 + + + + THCYT1 + + @@ -82245,6 +92650,12 @@ thrombocytopenia, autosomal dominant, 2 thrombocytopenia 2 + + + + THC2 + + @@ -82271,6 +92682,12 @@ thrombocytopenia, paris-trousseau type thrombocytopenia, paris-trousseau type + + + + TCPT + + @@ -82284,6 +92701,12 @@ thrombocytopenic purpura, autoimmune immune thrombocytopenia + + + + ITP + + @@ -82314,6 +92737,12 @@ thrombomodulin THBD + + + + THBD + + @@ -82330,6 +92759,12 @@ This term has one or more labels that end with ', INCLUDED'. thrombophilia due to thrombin defect + + + + THPH1 + + @@ -82349,6 +92784,12 @@ This term has one or more labels that end with ', INCLUDED'. thrombophilia due to activated protein c resistance + + + + THPH2 + + @@ -82378,6 +92819,12 @@ tsp2 THBS2 + + + + THBS2 + + @@ -82401,6 +92848,12 @@ TBXA2R + + + + TBXA2R + + @@ -82465,6 +92918,12 @@ thymidine kinase, mitochondrial TK2 + + + + TK2 + + @@ -82490,6 +92949,12 @@ DTYMK + + + + DTYMK + + @@ -82515,6 +92980,12 @@ TYMS + + + + TYMS + + @@ -82540,6 +93011,12 @@ This term has one or more labels that end with ', INCLUDED'. digeorge syndrome + + + + DGS + + @@ -82568,6 +93045,12 @@ thyroglobulin TG + + + + TG + + @@ -82600,6 +93083,12 @@ thyroid cancer, nonmedullary, 2 thyroid cancer, nonmedullary, 2 + + + + NMTC2 + + @@ -82633,6 +93122,12 @@ TSHB + + + + TSHB + + @@ -82656,6 +93151,12 @@ TRHR + + + + TRHR + + @@ -82670,6 +93171,12 @@ thyroid cancer, nonmedullary, 1 thyroid cancer, nonmedullary, 1 + + + + NMTC1 + + @@ -82703,6 +93210,12 @@ thyroid hormone unresponsiveness thyroid hormone resistance, generalized, autosomal dominant + + + + GRTHD + + @@ -82714,6 +93227,12 @@ thyrotoxic periodic paralysis, susceptibility to, 1 thyrotoxic periodic paralysis, susceptibility to, 1 + + + + TTPP1 + + @@ -82754,6 +93273,12 @@ tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia tibia, hypoplasia or aplasia of, with polydactyly + + + + THYP + + @@ -82795,6 +93320,12 @@ TIMP3 + + + + TIMP3 + + @@ -82840,6 +93371,12 @@ This term has one or more labels that end with ', INCLUDED'. PRKAR1A + + + + PRKAR1A + + @@ -82893,6 +93430,12 @@ titin TTN + + + + TTN + + @@ -83040,6 +93583,12 @@ This term has one or more labels that end with ', INCLUDED'. preeclampsia/eclampsia 1 + + + + PEE1 + + @@ -83079,6 +93628,12 @@ transcription factor, liver-specific, 3 HNF1B + + + + HNF1B + + @@ -83111,6 +93666,12 @@ zinc finger e box-binding homeobox 1 ZEB1 + + + + ZEB1 + + @@ -83135,6 +93696,12 @@ TPR + + + + TPR + + @@ -83180,6 +93747,12 @@ GTF2E2 + + + + GTF2E2 + + @@ -83205,6 +93778,12 @@ TEAD1 + + + + TEAD1 + + @@ -83248,6 +93827,12 @@ This term has one or more labels that end with ', INCLUDED'. ABL1 + + + + ABL1 + + @@ -83268,6 +93853,12 @@ v-myb avian myeloblastosis viral oncogene homolog MYB + + + + MYB + + @@ -83291,6 +93882,12 @@ TF + + + + TF + + @@ -83318,6 +93915,12 @@ TFRC + + + + TFRC + + @@ -83376,6 +93979,12 @@ v-ha-ras harvey rat sarcoma viral oncogene homolog HRAS + + + + HRAS + + @@ -83424,6 +94033,12 @@ This term has one or more labels that end with ', INCLUDED'. PDGFB + + + + PDGFB + + @@ -83450,6 +94065,12 @@ MOS + + + + MOS + + @@ -83546,6 +94167,12 @@ This term has one or more labels that end with ', INCLUDED'. KRAS + + + + KRAS + + @@ -83573,6 +94200,12 @@ MYC + + + + MYC + + @@ -83606,6 +94239,12 @@ v-src avian sarcoma (schmidt-ruppin a-2) viral oncogene SRC + + + + SRC + + @@ -83623,6 +94262,12 @@ trembling chin geniospasm 1 + + + + GSM1 + + @@ -83663,6 +94308,12 @@ THRA + + + + THRA + + @@ -83700,6 +94351,12 @@ v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 ERBB3 + + + + ERBB3 + + @@ -83737,6 +94394,12 @@ v-erb-a avian erythroblastic leukemia viral oncogene homolog 2 THRB + + + + THRB + + @@ -83772,6 +94435,12 @@ transforming growth factor, beta-1 TGFB1 + + + + TGFB1 + + @@ -83801,6 +94470,12 @@ transforming growth factor-beta receptor, type 1 TGFBR1 + + + + TGFBR1 + + @@ -83835,6 +94510,12 @@ transforming growth factor-beta receptor, type 2 TGFBR2 + + + + TGFBR2 + + @@ -83868,6 +94549,12 @@ TGM1 + + + + TGM1 + + @@ -83894,6 +94581,12 @@ CNTN2 + + + + CNTN2 + + @@ -83924,6 +94617,12 @@ translocation-associated notch homolog NOTCH1 + + + + NOTCH1 + + @@ -83956,6 +94655,12 @@ TGFB2 + + + + TGFB2 + + @@ -83984,6 +94689,12 @@ transforming growth factor, beta-3 TGFB3 + + + + TGFB3 + + @@ -83996,6 +94707,12 @@ tremor, hereditary essential, 1 tremor, hereditary essential, 1 + + + + ETM1 + + @@ -84037,6 +94754,12 @@ tricarboxylate transport protein, mitochondrial SLC25A1 + + + + SLC25A1 + + @@ -84048,6 +94771,12 @@ trichodentoosseous syndrome trichodentoosseous syndrome + + + + TDO + + @@ -84071,6 +94800,12 @@ trichomegaly trichomegaly + + + + TCMGLY + + @@ -84082,6 +94817,12 @@ trichodiscomas, familial multiple discoid fibromas, familial multiple + + + + FMDF + + @@ -84103,6 +94844,12 @@ trps 1 trichorhinophalangeal syndrome, type 1 + + + + TRPS1 + + @@ -84115,6 +94862,12 @@ trichorhinophalangeal syndrome, type 3 trichorhinophalangeal syndrome, type 3 + + + + TRPS3 + + @@ -84150,6 +94903,12 @@ TCHH + + + + TCHH + + @@ -84199,6 +94958,12 @@ trigonocephaly 1 trigonocephaly 1 + + + + TRIGNO1 + + @@ -84209,6 +94974,12 @@ triiodothyronine receptor auxiliary protein triiodothyronine receptor auxiliary protein + + + + TRAP + + @@ -84233,6 +95004,12 @@ TPI1 + + + + TPI1 + + @@ -84256,6 +95033,12 @@ TPP2 + + + + TPP2 + + @@ -84286,6 +95069,12 @@ triphalangeal thumb-polysyndactyly syndrome triphalangeal thumb with polysyndactyly + + + + TPTPS + + @@ -84386,6 +95175,12 @@ tropomyosin, skeletal muscle beta TPM2 + + + + TPM2 + + @@ -84424,6 +95219,12 @@ tropomyosin, skeletal muscle alpha TPM1 + + + + TPM1 + + @@ -84466,6 +95267,12 @@ This term has one or more labels that end with ', INCLUDED'. TPM3 + + + + TPM3 + + @@ -84490,6 +95297,12 @@ TNNC2 + + + + TNNC2 + + @@ -84520,6 +95333,12 @@ troponin c, slow-twitch skeletal muscle TNNC1 + + + + TNNC1 + + @@ -84555,6 +95374,12 @@ troponin t1, skeletal, slow TNNT1 + + + + TNNT1 + + @@ -84578,6 +95403,12 @@ TNNI2 + + + + TNNI2 + + @@ -84619,6 +95450,12 @@ troponin i, cardiac muscle isoform TNNI3 + + + + TNNI3 + + @@ -84653,6 +95490,12 @@ troponin t2, cardiac TNNT2 + + + + TNNT2 + + @@ -84685,6 +95528,12 @@ wars WARS1 + + + + WARS1 + + @@ -84709,6 +95558,12 @@ TDO2 + + + + TDO2 + + @@ -84764,6 +95619,12 @@ tuberin TSC2 + + + + TSC2 + + @@ -84777,6 +95638,12 @@ tuberous sclerosis complex tuberous sclerosis 1 + + + + TSC1 + + @@ -84803,6 +95670,12 @@ TUBA4A + + + + TUBA4A + + @@ -84834,6 +95707,12 @@ tubulin, beta, class 1 TUBB + + + + TUBB + + @@ -84859,6 +95738,12 @@ TUBG1 + + + + TUBG1 + + @@ -84906,6 +95791,12 @@ tumor necrosis factor, alpha TNF + + + + TNF + + @@ -84931,6 +95822,12 @@ TNFAIP3 + + + + TNFAIP3 + + @@ -85015,6 +95912,12 @@ tumor protein p53 TP53 + + + + TP53 + + @@ -85033,6 +95936,12 @@ tumor-suppressor gene, hela cell type suppressor of tumorigenicity 3 + + + + ST3 + + @@ -85065,6 +95974,12 @@ tumor necrosis factor-alpha receptor TNFRSF1A + + + + TNFRSF1A + + @@ -85092,6 +96007,12 @@ MAP3K8 + + + + MAP3K8 + + @@ -85125,6 +96046,12 @@ tyrosinase-related segment tyrosinase-like + + + + TYRL + + @@ -85149,6 +96076,12 @@ DCT + + + + DCT + + @@ -85172,6 +96105,12 @@ TH + + + + TH + + @@ -85196,6 +96135,12 @@ BLK + + + + BLK + + @@ -85222,6 +96167,12 @@ vascular endothelial growth factor receptor 2 KDR + + + + KDR + + @@ -85261,6 +96212,12 @@ tyrosine kinase receptor related to neurotrophic trk DDR2 + + + + DDR2 + + @@ -85290,6 +96247,12 @@ NTRK1 + + + + NTRK1 + + @@ -85314,6 +96277,12 @@ U2AF2 + + + + U2AF2 + + @@ -85346,6 +96315,12 @@ UQCRFS1 + + + + UQCRFS1 + + @@ -85370,6 +96345,12 @@ UQCRC1 + + + + UQCRC1 + + @@ -85393,6 +96374,12 @@ UQCRC2 + + + + UQCRC2 + + @@ -85418,6 +96405,12 @@ UQCRB + + + + UQCRB + + @@ -85454,6 +96447,12 @@ ubiquitin carboxyl-terminal esterase l1 UCHL1 + + + + UCHL1 + + @@ -85493,6 +96492,12 @@ udp-glcnac:dolichyl-phosphate n-acetylglucosaminephosphotransferase DPAGT1 + + + + DPAGT1 + + @@ -85510,6 +96515,12 @@ inflammatory bowel disease 11 inflammatory bowel disease 11 + + + + IBD11 + + @@ -85565,6 +96576,12 @@ uncombable hair syndrome 1 uncombable hair syndrome 1 + + + + UHS1 + + @@ -85620,6 +96637,12 @@ USF1 + + + + USF1 + + @@ -85651,6 +96674,12 @@ UNG + + + + UNG + + @@ -85677,6 +96706,12 @@ uricase urate oxidase, pseudogene + + + + UOX + + @@ -85768,6 +96803,12 @@ This term has one or more labels that end with ', INCLUDED'. UGT1A1 + + + + UGT1A1 + + @@ -85830,6 +96871,12 @@ UGP2 + + + + UGP2 + + @@ -85841,6 +96888,12 @@ urinary bladder, atony of bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut + + + + BAIPRCK + + @@ -85877,6 +96930,12 @@ renal hypodysplasia/aplasia 1 renal hypodysplasia/aplasia 1 + + + + RHDA1 + + @@ -85907,6 +96966,12 @@ urokinase PLAU + + + + PLAU + + @@ -85931,6 +96996,12 @@ UMOD + + + + UMOD + + @@ -85953,6 +97024,12 @@ urticaria-deafness-amyloidosis syndrome muckle-wells syndrome + + + + MWS + + @@ -86041,6 +97118,12 @@ uvomorulin CDH1 + + + + CDH1 + + @@ -86082,6 +97165,12 @@ vacuolar proton pump, subunit 1 ATP6V0A1 + + + + ATP6V0A1 + + @@ -86107,6 +97196,12 @@ ATP6V1B1 + + + + ATP6V1B1 + + @@ -86134,6 +97229,12 @@ VARS1 + + + + VARS1 + + @@ -86167,6 +97268,12 @@ VEGFA + + + + VEGFA + + @@ -86198,6 +97305,12 @@ vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations + + + + RVCLS + + @@ -86226,6 +97339,12 @@ AVP + + + + AVP + + @@ -86257,6 +97376,12 @@ velocardiofacial syndrome velocardiofacial syndrome + + + + VCFS + + @@ -86292,6 +97417,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 1 + + + + LQT1 + + @@ -86319,6 +97450,12 @@ ventricular hypertrophy, hereditary cardiomyopathy, familial hypertrophic, 1 + + + + CMH1 + + @@ -86368,6 +97505,12 @@ vertical talus, congenital vertical talus, congenital + + + + CVT + + @@ -86399,6 +97542,12 @@ VLDLR + + + + VLDLR + + @@ -86417,6 +97566,12 @@ vur vesicoureteral reflux 1 + + + + VUR1 + + @@ -86444,6 +97599,12 @@ SLC18A2 + + + + SLC18A2 + + @@ -86459,6 +97620,12 @@ vestibulocerebellar disorder with predominant ocular signs spinocerebellar ataxia 27a + + + + SCA27A + + @@ -86488,6 +97655,12 @@ This term has one or more labels that end with ', INCLUDED'. vertigo, benign recurrent + + + + BRV + + @@ -86529,6 +97702,12 @@ VIM + + + + VIM + + @@ -86559,6 +97738,12 @@ This term has one or more labels that end with ', INCLUDED'. VCL + + + + VCL + + @@ -86587,6 +97772,12 @@ FLI1 + + + + FLI1 + + @@ -86612,6 +97803,12 @@ This term has one or more labels that end with ', INCLUDED'. transcobalamin 1 deficiency + + + + TCN1D + + @@ -86625,6 +97822,12 @@ vitamin d-resistant rickets, autosomal dominant hypophosphatemic rickets, autosomal dominant + + + + ADHR + + @@ -86641,6 +97844,12 @@ vitiligo-associated multiple autoimmune disease susceptibility 6 vitiligo-associated multiple autoimmune disease susceptibility 6 + + + + VAMAS6 + + @@ -86656,6 +97865,12 @@ This term has one or more labels that end with ', INCLUDED'. vitreoretinochoroidopathy + + + + VRCP + + @@ -86667,6 +97882,12 @@ vitreoretinal degeneration, snowflake type vitreoretinal degeneration, snowflake type + + + + SVD + + @@ -86691,6 +97912,12 @@ vitreoretinopathy, neovascular inflammatory, autosomal dominant vitreoretinopathy, neovascular inflammatory + + + + VRNI + + @@ -86731,6 +97958,12 @@ This term has one or more labels that end with ', INCLUDED'. von hippel-lindau syndrome + + + + VHLS + + @@ -86742,6 +97975,12 @@ vwd, type 1 von willebrand disease, type 1 + + + + VWD1 + + @@ -86763,6 +98002,12 @@ waardenburg syndrome, type 1 waardenburg syndrome, type 1 + + + + WS1 + + @@ -86776,6 +98021,12 @@ ws2 waardenburg syndrome, type 2a + + + + WS2A + + @@ -86788,6 +98039,12 @@ watson syndrome watson syndrome + + + + WTSN + + @@ -86800,6 +98057,12 @@ weyers acrofacial dysostosis weyers acrofacial dysostosis + + + + WAD + + @@ -86813,6 +98076,12 @@ whims whim syndrome 1 + + + + WHIMS1 + + @@ -86847,6 +98116,12 @@ whistling face-windmill vane hand syndrome arthrogryposis, distal, type 2a + + + + DA2A + + @@ -86872,6 +98147,12 @@ white sponge nevus of cannon white sponge nevus 1 + + + + WSN1 + + @@ -86899,6 +98180,12 @@ williams-beuren syndrome williams-beuren syndrome + + + + WBS + + @@ -86911,6 +98198,12 @@ wilms tumor 1 wilms tumor 1 + + + + WT1 + + @@ -86922,6 +98215,12 @@ wilms tumor 2 wilms tumor 2 + + + + WT2 + + @@ -86941,6 +98240,12 @@ wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome + + + + WAGR + + @@ -86954,6 +98259,12 @@ wilms tumor and pseudo- or true hermaphroditism denys-drash syndrome + + + + DDS + + @@ -86971,6 +98282,12 @@ wilms tumor 3 wilms tumor 3 + + + + WT3 + + @@ -87000,6 +98317,12 @@ wolf-hirschhorn syndrome wolf-hirschhorn syndrome + + + + WHS + + @@ -87014,6 +98337,12 @@ This term has one or more labels that end with ', INCLUDED'. wolff-parkinson-white syndrome + + + + WPW + + @@ -87024,6 +98353,12 @@ woolly hair, autosomal dominant woolly hair, autosomal dominant + + + + ADWH + + @@ -87066,6 +98401,12 @@ XBP1 + + + + XBP1 + + @@ -87090,6 +98431,12 @@ XRCC1 + + + + XRCC1 + + @@ -87114,6 +98461,12 @@ XRCC4 + + + + XRCC4 + + @@ -87124,6 +98477,12 @@ x-ray sensitivity x-ray sensitivity + + + + XRS + + @@ -87139,6 +98498,12 @@ xerocytosis, hereditary dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema + + + + DHS1 + + @@ -87180,6 +98545,12 @@ zinc finger protein 1 zinc finger protein 1 + + + + ZNF1 + + @@ -87211,6 +98582,12 @@ zinc finger protein 123, pseudogene zinc finger protein 123, pseudogene + + + + ZNF123P + + @@ -87234,6 +98611,12 @@ ZNF141 + + + + ZNF141 + + @@ -87257,6 +98640,12 @@ ZP1 + + + + ZP1 + + @@ -87292,6 +98681,12 @@ mtp deficiency abetalipoproteinemia + + + + ABL + + @@ -87302,6 +98697,12 @@ ablepharon-macrostomia syndrome ablepharon-macrostomia syndrome + + + + AMS + + @@ -87339,6 +98740,12 @@ neuroacanthocytosis, formerly choreoacanthocytosis + + + + CHAC + + @@ -87382,6 +98789,12 @@ ACACA + + + + ACACA + + @@ -87421,6 +98834,12 @@ acheiropody, brazilian type acheiropody + + + + ACHP + + @@ -87433,6 +98852,12 @@ achondrogenesis, type 1a achondrogenesis, type 1a + + + + ACG1A + + @@ -87449,6 +98874,12 @@ This term has one or more labels that end with ', INCLUDED'. achondrogenesis, type 2 + + + + ACG2 + + @@ -87466,6 +98897,12 @@ grebe dysplasia acromesomelic dysplasia 2a + + + + AMD2A + + @@ -87552,6 +98989,12 @@ This term has one or more labels that end with ', INCLUDED'. acrocallosal syndrome + + + + ACLS + + @@ -87588,6 +99031,12 @@ carpenter syndrome 1 carpenter syndrome 1 + + + + CRPT1 + + @@ -87630,6 +99079,12 @@ acrodermatitis enteropathica, zinc-deficiency type acrodermatitis enteropathica, zinc-deficiency type + + + + AEZ + + @@ -87684,6 +99139,12 @@ acromesomelic dysplasia, hunter-thompson type acromesomelic dysplasia 2c + + + + AMD2C + + @@ -87704,6 +99165,12 @@ neuropathy, progressive sensory, of children neuropathy, hereditary sensory and autonomic, type 2a + + + + HSAN2A + + @@ -87736,6 +99203,12 @@ adrenocorticotropic hormone deficiency acth deficiency, isolated + + + + IAD + + @@ -87762,6 +99235,12 @@ mcadh deficiency acyl-coa dehydrogenase, medium-chain, deficiency of + + + + ACADMD + + @@ -87797,6 +99276,12 @@ scadh deficiency acyl-coa dehydrogenase, short-chain, deficiency of + + + + ACADSD + + @@ -87820,6 +99305,12 @@ vlcad deficiency acyl-coa dehydrogenase, very long-chain, deficiency of + + + + ACADVLD + + @@ -87853,6 +99344,12 @@ lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism lipoid congenital adrenal hyperplasia + + + + LCAH + + @@ -87863,6 +99360,12 @@ antley-bixler syndrome with genital anomalies and disordered steroidogenesis antley-bixler syndrome with genital anomalies and disordered steroidogenesis + + + + ABS1 + + @@ -87974,6 +99477,12 @@ glucocorticoid deficiency 1 glucocorticoid deficiency 1 + + + + GCCD1 + + @@ -87986,6 +99495,12 @@ This term has one or more labels that end with ', INCLUDED'. adrenocortical carcinoma, hereditary + + + + ADCC + + @@ -88007,6 +99522,12 @@ peroxisome biogenesis disorder 2b peroxisome biogenesis disorder 2b + + + + PBD2B + + @@ -88071,6 +99592,12 @@ otocephaly agnathia-otocephaly complex + + + + AGOTC + + @@ -88092,6 +99619,12 @@ neutropenia, severe congenital, 1, autosomal dominant neutropenia, severe congenital, 1, autosomal dominant + + + + SCN1 + + @@ -88126,6 +99659,12 @@ oculocutaneous albinism, tyrosinase-negative albinism, oculocutaneous, type 1a + + + + OCA1A + + @@ -88143,6 +99682,12 @@ This term has one or more labels that end with ', INCLUDED'. albinism, oculocutaneous, type 2 + + + + OCA2 + + @@ -88176,6 +99721,12 @@ xanthism albinism, oculocutaneous, type 3 + + + + OCA3 + + @@ -88201,6 +99752,12 @@ hermansky-pudlak syndrome 1 hermansky-pudlak syndrome 1 + + + + HPS1 + + @@ -88221,6 +99778,12 @@ pseudohypoparathyroidism, type 2 pseudohypoparathyroidism, type 2 + + + + PHP2 + + @@ -88268,6 +99831,12 @@ alexander disease alexander disease + + + + ALXDRD + + @@ -88291,6 +99860,12 @@ homogentisic acid oxidase deficiency alkaptonuria + + + + AKU + + @@ -88338,6 +99913,12 @@ apmr alopecia-intellectual disability syndrome 1 + + + + APMR1 + + @@ -88350,6 +99931,12 @@ atrichia, generalized alopecia universalis congenita + + + + ALUNC + + @@ -88367,6 +99954,12 @@ neuronal degeneration of childhood with liver disease, progressive mitochondrial DNA depletion syndrome 4a (alpers type) + + + + MTDPS4A + + @@ -88399,6 +99992,12 @@ oxoglutaric aciduria oxoglutarate dehydrogenase deficiency + + + + OGDHD + + @@ -88449,6 +100048,12 @@ alport syndrome 2, autosomal recessive alport syndrome 2, autosomal recessive + + + + ATS2 + + @@ -88472,6 +100077,12 @@ alstrom syndrome alstrom syndrome + + + + ALMS + + @@ -88486,6 +100097,12 @@ retinal blindness, congenital leber congenital amaurosis 1 + + + + LCA1 + + @@ -88498,6 +100115,12 @@ leber congenital amaurosis 2 leber congenital amaurosis 2 + + + + LCA2 + + @@ -88534,6 +100157,12 @@ vogt-spielmeyer disease ceroid lipofuscinosis, neuronal, 3 + + + + CLN3 + + @@ -88546,6 +100175,12 @@ ceroid lipofuscinosis, neuronal, 6b (kufs type) ceroid lipofuscinosis, neuronal, 6b (kufs type) + + + + CLN6B + + @@ -88575,6 +100210,12 @@ jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile, formerly ceroid lipofuscinosis, neuronal, 2 + + + + CLN2 + + @@ -88597,6 +100238,12 @@ amelogenesis imperfecta, type 1c amelogenesis imperfecta, type 1c + + + + AI1C + + @@ -88624,6 +100271,12 @@ enamel-renal-gingival syndrome amelogenesis imperfecta, type 1g + + + + AI1G + + @@ -88648,6 +100301,12 @@ amelogenesis imperfecta, pigmented hypomaturation type, 1 amelogenesis imperfecta, hypomaturation type, iia1 + + + + AI2A1 + + @@ -88669,6 +100328,12 @@ alpha-aminoadipic and alpha-ketoadipic aciduria alpha-aminoadipic and alpha-ketoadipic aciduria + + + + AAKAD + + @@ -88714,6 +100379,12 @@ lattice corneal dystrophy, type 3 corneal dystrophy, gelatinous drop-like + + + + GDLD + + @@ -88745,6 +100416,12 @@ amyotrophic lateral sclerosis 2, juvenile amyotrophic lateral sclerosis 2, juvenile + + + + ALS2 + + @@ -88778,6 +100455,12 @@ tangier disease tangier disease + + + + TGD + + @@ -88828,6 +100511,12 @@ anemia, sideroblastic, 2, pyridoxine-refractory anemia, sideroblastic, 2, pyridoxine-refractory + + + + SIDBA2 + + @@ -88861,6 +100550,12 @@ anemia, hypochromic microcytic, with iron overload 1 anemia, hypochromic microcytic, with iron overload 1 + + + + AHMIO1 + + @@ -88886,6 +100581,12 @@ pseudo-iron-deficiency anemia iron-refractory iron deficiency anemia + + + + IRIDA + + @@ -88928,6 +100629,12 @@ anph anencephaly 1 + + + + ANPH1 + + @@ -88968,6 +100675,12 @@ gillespie syndrome gillespie syndrome + + + + GLSP + + @@ -89012,6 +100725,12 @@ nail disorder, nonsyndromic congenital, 4 nail disorder, nonsyndromic congenital, 4 + + + + NDNC4 + + @@ -89029,6 +100748,12 @@ This term has one or more labels that end with ', INCLUDED'. microphthalmia, syndromic 3 + + + + MCOPS3 + + @@ -89054,6 +100779,12 @@ waardenburg anophthalmia syndrome microphthalmia with limb anomalies + + + + MLA + + @@ -89085,6 +100816,12 @@ trapezoidocephaly-synostosis syndrome antley-bixler syndrome without genital anomalies or disordered steroidogenesis + + + + ABS2 + + @@ -89293,6 +101030,12 @@ This term has one or more labels that end with ', INCLUDED'. arterial calcification, generalized, of infancy, 1 + + + + GACI1 + + @@ -89317,6 +101060,12 @@ ats arterial tortuosity syndrome + + + + ATORS + + @@ -89356,6 +101105,12 @@ arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis 1 + + + + ARCS1 + + @@ -89381,6 +101136,12 @@ arthrogryposis multiplex congenita, neurogenic type arthrogryposis multiplex congenita 2, neurogenic type + + + + AMC2 + + @@ -89405,6 +101166,12 @@ pena-shokeir syndrome, type 1 fetal akinesia deformation sequence 1 + + + + FADS1 + + @@ -89459,6 +101226,12 @@ spondyloepiphyseal dysplasia tarda with progressive arthropathy progressive pseudorheumatoid dysplasia + + + + PPRD + + @@ -89489,6 +101262,12 @@ pericarditis-arthropathy-camptodactyly syndrome camptodactyly-arthropathy-coxa vara-pericarditis syndrome + + + + CACP + + @@ -89525,6 +101304,12 @@ glycosylasparaginase deficiency aspartylglucosaminuria + + + + AGU + + @@ -89545,6 +101330,12 @@ thoracic-pelvic-phalangeal dystrophy short-rib thoracic dysplasia 1 with or without polydactyly + + + + SRTD1 + + @@ -89563,6 +101354,12 @@ This term has one or more labels that end with ', INCLUDED'. right atrial isomerism + + + + RAI + + @@ -89575,6 +101372,12 @@ rhpd renal-hepatic-pancreatic dysplasia 1 + + + + RHPD1 + + @@ -89674,6 +101477,12 @@ This term has one or more labels that end with ', INCLUDED'. ataxia-telangiectasia + + + + AT + + @@ -89720,6 +101529,12 @@ This term has one or more labels that end with ', INCLUDED'. ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia + + + + EAOH + + @@ -89800,6 +101615,12 @@ papular atrichia atrichia with papular lesions + + + + APL + + @@ -89824,6 +101645,12 @@ honeycomb atrophy atrophoderma vermiculata + + + + AVA + + @@ -89890,6 +101717,12 @@ This term has one or more labels that end with ', INCLUDED'. central hypoventilation syndrome, congenital, 1 + + + + CCHS1 + + @@ -89902,6 +101735,12 @@ hypertrichosis, atrophic skin, ectropion, and macrostomia barber-say syndrome + + + + BBRSAY + + @@ -89937,6 +101776,12 @@ bardet-biedl syndrome 1 bardet-biedl syndrome 1 + + + + BBS1 + + @@ -89960,6 +101805,12 @@ BBS1 + + + + BBS1 + + @@ -89977,6 +101828,12 @@ severe combined immunodeficiency, hla class ii-negative mhc class 2 deficiency 1 + + + + MHC2D1 + + @@ -89999,6 +101856,12 @@ immunodeficiency 27a, mycobacteriosis, autosomal recessive immunodeficiency 27a + + + + IMD27A + + @@ -90020,6 +101883,12 @@ optic atrophy, infantile hereditary, with neurologic abnormalities behr syndrome + + + + BEHRS + + @@ -90055,6 +101924,12 @@ hyper-beta-aminoisobutyric aciduria beta-aminoisobutyric aciduria + + + + BAIBA + + @@ -90082,6 +101957,12 @@ methylcrotonylglycinuria type 1 3-methylcrotonyl-coa carboxylase 1 deficiency + + + + MCC1D + + @@ -90108,6 +101989,12 @@ methylcrotonylglycinuria, type 2 3-methylcrotonyl-coa carboxylase 2 deficiency + + + + MCC2D + + @@ -90123,6 +102010,12 @@ This term has one or more labels that end with ', INCLUDED'. sitosterolemia 1 + + + + STSL1 + + @@ -90165,6 +102058,12 @@ bietti tapetoretinal degeneration with marginal corneal dystrophy bietti crystalline corneoretinal dystrophy + + + + BCD + + @@ -90195,6 +102094,12 @@ biliary atresia, extrahepatic biliary atresia, extrahepatic + + + + EHBA + + @@ -90221,6 +102126,12 @@ seckel-type dwarfism seckel syndrome 1 + + + + SCKL1 + + @@ -90256,6 +102167,12 @@ taybi-linder syndrome microcephalic osteodysplastic primordial dwarfism, type 1 + + + + MOPD1 + + @@ -90280,6 +102197,12 @@ osteodysplastic primordial dwarfism, type 2 microcephalic osteodysplastic primordial dwarfism, type 2 + + + + MOPD2 + + @@ -90321,6 +102244,12 @@ skin/hair/eye pigmentation, variation in, 6 skin/hair/eye pigmentation, variation in, 6 + + + + SHEP6 + + @@ -90346,6 +102275,12 @@ microcephaly, growth restriction, and increased sister chromatid exchange 1 bloom syndrome + + + + BLM + + @@ -90381,6 +102316,12 @@ FUT1 + + + + FUT1 + + @@ -90422,6 +102363,12 @@ bowen-conradi syndrome bowen-conradi syndrome + + + + BWCNS + + @@ -90483,6 +102430,12 @@ hypospadias, hypertelorism, upper 51d coloboma, and mixed-type hearing loss elsahy-waters syndrome + + + + ESWS + + @@ -90505,6 +102458,12 @@ cystic fibrosis-like syndrome bronchiectasis with or without elevated sweat chloride 1 + + + + BESC1 + + @@ -90567,6 +102526,12 @@ pontobulbar palsy with deafness brown-vialetto-van laere syndrome 1 + + + + BVVLS1 + + @@ -90588,6 +102553,12 @@ cholestasis, progressive familial intrahepatic, 1 cholestasis, progressive familial intrahepatic, 1 + + + + PFIC1 + + @@ -90644,6 +102615,12 @@ calcification of joints and arteries calcification of joints and arteries + + + + CALJA + + @@ -90686,6 +102663,12 @@ tumoral calcinosis, primary hyperphosphatemic tumoral calcinosis, hyperphosphatemic, familial, 1 + + + + HFTC1 + + @@ -90697,6 +102680,12 @@ faciothoracoskeletal syndrome camptodactyly syndrome, guadalajara, type 1 + + + + GCS1 + + @@ -90818,6 +102807,12 @@ immunodeficiency 103, susceptibility to fungal infections immunodeficiency 103, susceptibility to fungal infections + + + + IMD103 + + @@ -90854,6 +102849,12 @@ phosphomannomutase 2 deficiency congenital disorder of glycosylation, type ia + + + + CDG1A + + @@ -90881,6 +102882,12 @@ mental retardation, growth retardation, prominent columella, and open mouth congenital disorder of glycosylation, type iia + + + + CDG2A + + @@ -90953,6 +102960,12 @@ cardiac valvular dysplasia 1 cardiac valvular dysplasia 1 + + + + CVDP1 + + @@ -91037,6 +103050,12 @@ carnitine-acylcarnitine translocase deficiency carnitine-acylcarnitine translocase deficiency + + + + CACTD + + @@ -91064,6 +103083,12 @@ systemic carnitine deficiency carnitine deficiency, systemic primary + + + + CDSP + + @@ -91120,6 +103145,12 @@ ppkca, wallis type palmoplantar keratoderma and congenital alopecia 2 + + + + PPKCA2 + + @@ -91141,6 +103172,12 @@ cataract, juvenile, hutterite type cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy + + + + CTRCT46 + + @@ -91176,6 +103213,12 @@ optic disc anomalies with retinal and/or macular dystrophy optic disc anomalies with retinal and/or macular dystrophy + + + + ODRMD + + @@ -91219,6 +103262,12 @@ martsolf syndrome 1 martsolf syndrome 1 + + + + MARTS1 + + @@ -91244,6 +103293,12 @@ gluten-sensitive enteropathy, susceptibility to, 1 celiac disease, susceptibility to, 1 + + + + CELIAC1 + + @@ -91257,6 +103312,12 @@ syndactyly, type 7 cenani-lenz syndactyly syndrome + + + + CLSS + + @@ -91268,6 +103329,12 @@ x-chromosome centromere peculiarity premature centromere division + + + + PCD + + @@ -91311,6 +103378,12 @@ luteinizing hormone-releasing hormone, deficiency of, with ataxia gordon holmes syndrome + + + + GDHS + + @@ -91340,6 +103413,12 @@ cerebellar ataxia, early-onset, with retained tendon reflexes cerebellar ataxia, early-onset, with retained tendon reflexes + + + + EOCA + + @@ -91380,6 +103459,12 @@ cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay + + + + CHEGDD + + @@ -91434,6 +103519,12 @@ spinocerebellar ataxia, autosomal recessive 2 spinocerebellar ataxia, autosomal recessive 2 + + + + SCAR2 + + @@ -91449,6 +103540,12 @@ joubert-boltshauser syndrome joubert syndrome 1 + + + + JBTS1 + + @@ -91502,6 +103599,12 @@ striopallidodentate calcinosis, bilateral basal ganglia calcification, idiopathic, 1 + + + + IBGC1 + + @@ -91525,6 +103628,12 @@ cerebrotendinous xanthomatosis cerebrotendinous xanthomatosis + + + + CTX + + @@ -91577,6 +103686,12 @@ craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 + + + + CFSMR1 + + @@ -91594,6 +103709,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 1a (zellweger) + + + + PBD1A + + @@ -91614,6 +103735,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 2a (zellweger) + + + + PBD2A + + @@ -91633,6 +103760,12 @@ pena-shokeir syndrome, type 2 cerebrooculofacioskeletal syndrome 1 + + + + COFS1 + + @@ -91676,6 +103809,12 @@ klippel-feil syndrome 2, autosomal recessive klippel-feil syndrome 2, autosomal recessive + + + + KFS2 + + @@ -91687,6 +103826,12 @@ curly hair-ankyloblepharon-nail dysplasia syndrome chand syndrome + + + + CHANDS + + @@ -91717,10 +103862,16 @@ CMT4A charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4a - charcot-marie-tooth disease, type 4a + charcot-marie-tooth disease, demyelinating, type 4a charcot-marie-tooth neuropathy, type 4a - charcot-marie-tooth disease, type 4a + charcot-marie-tooth disease, demyelinating, type 4a + + + + CMT4A + + @@ -91747,6 +103898,12 @@ partial albinism and primary neurologic disease without hemophagocytic syndrome griscelli syndrome, type 1 + + + + GS1 + + @@ -91769,6 +103926,12 @@ chediak-higashi syndrome chediak-higashi syndrome + + + + CHS + + @@ -91794,6 +103957,12 @@ diarrhea 1, secretory chloride, congenital diarrhea 1, secretory chloride, congenital + + + + DIAR1 + + @@ -91836,6 +104005,12 @@ trihydroxycoprostanic acid 1n bile bile acid synthesis defect, congenital, 4 + + + + CBAS4 + + @@ -91864,6 +104039,12 @@ chondrodysplasia, blomstrand type chondrodysplasia, blomstrand type + + + + BOCD + + @@ -91888,6 +104069,12 @@ rhizomelic chondrodysplasia punctata, type 1 rhizomelic chondrodysplasia punctata, type 1 + + + + RCDP1 + + @@ -91911,6 +104098,12 @@ moth-eaten skeletal dysplasia greenberg dysplasia + + + + GRBGD + + @@ -91927,6 +104120,12 @@ weissenbacher-zweymuller syndrome, formerly otospondylomegaepiphyseal dysplasia, autosomal recessive + + + + OSMEDB + + @@ -91961,6 +104160,12 @@ chordoma, susceptibility to chordoma, susceptibility to + + + + CHDM + + @@ -91981,6 +104186,12 @@ spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy boucher-neuhauser syndrome + + + + BNHS + + @@ -92004,6 +104215,12 @@ choroidal sclerosis choroidal dystrophy, central areolar, 1 + + + + CACD1 + + @@ -92128,6 +104345,12 @@ orocraniodigital syndrome juberg-hayward syndrome + + + + JHS + + @@ -92157,6 +104380,12 @@ yunis-varon syndrome yunis-varon syndrome + + + + YVS + + @@ -92170,6 +104399,12 @@ joubert syndrome with congenital hepatic fibrosis coach syndrome 1 + + + + COACH1 + + @@ -92180,6 +104415,12 @@ Cockayne syndrome a Cockayne syndrome a + + + + CSA + + @@ -92215,6 +104456,12 @@ pepper syndrome cohen syndrome + + + + COH1 + + @@ -92225,6 +104472,12 @@ collagenosis, familial reactive perforating collagenosis, familial reactive perforating + + + + RPC + + @@ -92280,6 +104533,12 @@ rod monochromatism 2 achromatopsia 2 + + + + ACHM2 + + @@ -92310,6 +104569,12 @@ complement component 2 deficiency complement component 2 deficiency + + + + C2D + + @@ -92347,6 +104612,12 @@ factor 1 CFI + + + + CFI + + @@ -92370,6 +104641,12 @@ C6 + + + + C6 + + @@ -92393,6 +104670,12 @@ C7 + + + + C7 + + @@ -92425,6 +104708,12 @@ congenital heart defects, hamartomas of tongue, and polysyndactyly congenital heart defects, hamartomas of tongue, and polysyndactyly + + + + CHDTHP + + @@ -92454,6 +104743,12 @@ This term has one or more labels that end with ', INCLUDED'. conotruncal heart malformations + + + + CTHM + + @@ -92510,6 +104805,12 @@ cornea plana 2, autosomal recessive cornea plana 2, autosomal recessive + + + + CNA2 + + @@ -92523,6 +104824,12 @@ harboyan syndrome corneal dystrophy and perceptive deafness + + + + CDPD + + @@ -92553,6 +104860,12 @@ corneal dystrophy, central type central cloudy dystrophy of francois + + + + CCDF + + @@ -92566,6 +104879,12 @@ corneal endothelial dystrophy 2, autosomal recessive, formerly corneal endothelial dystrophy + + + + CHED + + @@ -92594,6 +104913,12 @@ This term has one or more labels that end with ', INCLUDED'. macular dystrophy, corneal + + + + MCD + + @@ -92628,6 +104953,12 @@ polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum agenesis of the corpus callosum with peripheral neuropathy + + + + ACCPN + + @@ -92661,6 +104992,12 @@ cortisol 11-beta-ketoreductase deficiency apparent mineralocorticoid excess + + + + AME + + @@ -92675,6 +105012,12 @@ This term has one or more labels that end with ', INCLUDED'. costello syndrome + + + + CSTLO + + @@ -92722,6 +105065,12 @@ craniodiaphyseal dysplasia craniodiaphyseal dysplasia + + + + CDD + + @@ -92747,6 +105096,12 @@ sensenbrenner syndrome cranioectodermal dysplasia 1 + + + + CED1 + + @@ -92770,6 +105125,12 @@ temtamy syndrome temtamy syndrome + + + + TEMTYS + + @@ -92791,6 +105152,12 @@ craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia, autosomal recessive + + + + CMDR + + @@ -92850,6 +105217,12 @@ craniosynostosis-radial aplasia syndrome baller-gerold syndrome + + + + BGS + + @@ -92911,6 +105284,12 @@ thyrotropin resistance hypothyroidism, congenital, nongoitrous, 2 + + + + CHNG2 + + @@ -92958,6 +105337,12 @@ fraser syndrome 1 fraser syndrome 1 + + + + FRASRS1 + + @@ -93004,6 +105389,12 @@ cushing syndrome, adrenal, due to aimah acth-independent macronodular adrenal hyperplasia + + + + AIMAH1 + + @@ -93028,6 +105419,12 @@ pituitary adenoma 4, acth-secreting pituitary adenoma 4, acth-secreting + + + + PITA4 + + @@ -93050,6 +105447,12 @@ cutis laxa, autosomal recessive, type 1a cutis laxa, autosomal recessive, type 1a + + + + ARCL1A + + @@ -93064,6 +105467,12 @@ progeroid syndrome of lange barsy cutis laxa, autosomal recessive, type 3a + + + + ARCL3A + + @@ -93082,6 +105491,12 @@ cutis laxa, debre type cutis laxa, autosomal recessive, type 2a + + + + ARCL2A + + @@ -93092,6 +105507,12 @@ cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita + + + + CMTC + + @@ -93153,6 +105574,12 @@ polycystic lung disease polycystic lung disease + + + + PCLUD + + @@ -93164,6 +105591,12 @@ mucoviscidosis cystic fibrosis + + + + CF + + @@ -93184,6 +105617,12 @@ ventriculomegaly with cystic kidney disease ventriculomegaly with cystic kidney disease + + + + VMCKD + + @@ -93210,6 +105649,12 @@ This term has one or more labels that end with ', INCLUDED'. cystinosis, nephropathic + + + + CTNS + + @@ -93276,6 +105721,12 @@ mitochondrial complex 4 deficiency, nuclear type 1 mitochondrial complex 4 deficiency, nuclear type 1 + + + + MC4DN1 + + @@ -93304,6 +105755,12 @@ mitochondrial complex 4 deficiency, nuclear type 5 mitochondrial complex 4 deficiency, nuclear type 5 + + + + MC4DN5 + + @@ -93352,6 +105809,12 @@ renal hypouricemia hypouricemia, renal, 1 + + + + RHUC1 + + @@ -93370,6 +105833,12 @@ This term has one or more labels that end with ', INCLUDED'. dandy-walker syndrome + + + + DWS + + @@ -93384,6 +105853,12 @@ ritscher-schinzel syndrome 1 ritscher-schinzel syndrome 1 + + + + RTSC1 + + @@ -93419,6 +105894,12 @@ This term has one or more labels that end with ', INCLUDED'. deafness, autosomal recessive 1a + + + + DFNB1A + + @@ -93439,10 +105920,17 @@ cardioauditory syndrome of jervell and lange-nielsen deafness, congenital, and functional heart disease jervell and lange-nielsen syndrome 1 + jlns prolonged qt interval 1n ekg and sudden death surdo-cardiac syndrome jervell and lange-nielsen syndrome 1 + + + + JLNS1 + + @@ -93459,6 +105947,12 @@ eronen syndrome deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome + + + + DOORS + + @@ -93471,6 +105965,12 @@ split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive + + + + SHFM1D + + @@ -93530,6 +106030,12 @@ deafness and myopia deafness and myopia + + + + DFNMYP + + @@ -93646,6 +106152,12 @@ pituitary hormone deficiency, combined, with rigid cervical spine pituitary hormone deficiency, combined, 3 + + + + CPHD3 + + @@ -93684,6 +106196,12 @@ presenile dementia with bone cysts polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 + + + + PLOSL1 + + @@ -93738,6 +106256,12 @@ subcortical gliosis of neumann leukoencephalopathy, hereditary diffuse, with spheroids 1 + + + + HDLS1 + + @@ -93764,6 +106288,12 @@ retinal nonattachment, nonsyndromic congenital persistent hyperplastic primary vitreous, autosomal recessive + + + + PHPVAR + + @@ -93814,6 +106344,12 @@ This term has one or more labels that end with ', INCLUDED'. type 1 diabetes mellitus + + + + T1D + + @@ -93826,6 +106362,12 @@ wolfram syndrome 1 wolfram syndrome 1 + + + + WFS1 + + @@ -93853,6 +106395,12 @@ diaphragmatic hernia 2 diaphragmatic hernia 2 + + + + DIH2 + + @@ -93878,6 +106426,12 @@ faciooculoacousticorenal syndrome donnai-barrow syndrome + + + + DBS + + @@ -93898,6 +106452,12 @@ trichohepatoenteric syndrome 1 trichohepatoenteric syndrome 1 + + + + THES1 + + @@ -93920,6 +106480,12 @@ This term has one or more labels that end with ', INCLUDED'. diastrophic dysplasia + + + + DTD + + @@ -93952,6 +106518,12 @@ lysinuric protein intolerance lysinuric protein intolerance + + + + LPI + + @@ -93963,6 +106535,12 @@ glutamate-aspartate transport defect dicarboxylic aminoaciduria + + + + DCBXA + + @@ -93988,6 +106566,12 @@ dpys deficiency dihydropyrimidinase deficiency + + + + DPYSD + + @@ -94026,6 +106610,12 @@ rhizomelic chondrodysplasia punctata, type 2 rhizomelic chondrodysplasia punctata, type 2 + + + + RCDP2 + + @@ -94054,6 +106644,12 @@ erythrocytosis, familial, 8 erythrocytosis, familial, 8 + + + + ECYT8 + + @@ -94080,6 +106676,12 @@ sucrose-isomaltose malabsorption, congenital sucrase-isomaltase deficiency, congenital + + + + CSID + + @@ -94212,6 +106814,12 @@ orthostatic hypotension 1 orthostatic hypotension 1 + + + + ORTHYP1 + + @@ -94295,6 +106903,12 @@ dyggve-melchior-clausen disease dyggve-melchior-clausen disease + + + + DMC + + @@ -94309,6 +106923,12 @@ riley-day syndrome neuropathy, hereditary sensory and autonomic, type 3 + + + + HSAN3 + + @@ -94346,6 +106966,12 @@ dysequilibrium syndrome cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 + + + + CAMRQ1 + + @@ -94361,6 +106987,12 @@ hereditary erythroblastic multinuclearity with positive acidified-serum test anemia, congenital dyserythropoietic, type 2 + + + + CDAN2 + + @@ -94387,6 +107019,12 @@ dyserythropoietic anemia, congenital, type ia anemia, congenital dyserythropoietic, type ia + + + + CDAN1A + + @@ -94407,6 +107045,12 @@ dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita, autosomal recessive 1 + + + + DKCB1 + + @@ -94437,6 +107081,12 @@ dyssegmental dysplasia, rolland-desbuquois type dyssegmental dysplasia, rolland-desbuquois type + + + + DDRD + + @@ -94449,6 +107099,12 @@ dyssegmental dysplasia, silverman-handmaker type dyssegmental dysplasia, silverman-handmaker type + + + + DDSH + + @@ -94473,6 +107129,12 @@ dystonia musculorum deformans 2 dystonia 2, torsion, autosomal recessive + + + + DYT2 + + @@ -94526,6 +107188,12 @@ microtia, absent patellae, micrognathia syndrome meier-gorlin syndrome 1 + + + + MGORS1 + + @@ -94547,6 +107215,12 @@ schopf-schulz-passarge syndrome schopf-schulz-passarge syndrome + + + + SSPS + + @@ -94569,6 +107243,12 @@ ectodermal dysplasia, hypohidrotic ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive + + + + ECTD10B + + @@ -94615,6 +107295,12 @@ This term has one or more labels that end with ', INCLUDED'. cleft lip/palate-ectodermal dysplasia syndrome + + + + CLPED1 + + @@ -94625,6 +107311,12 @@ ectopia lentis 2, isolated, autosomal recessive ectopia lentis 2, isolated, autosomal recessive + + + + ECTOL2 + + @@ -94646,6 +107338,12 @@ hypothyroidism, congenital, nongoitrous, 5 hypothyroidism, congenital, nongoitrous, 5 + + + + CHNG5 + + @@ -94657,6 +107355,12 @@ eem syndrome ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome + + + + EEMS + + @@ -94678,6 +107382,12 @@ split-hand/foot malformation 6 split-hand/foot malformation 6 + + + + SHFM6 + + @@ -94702,6 +107412,12 @@ ehlers-danlos syndrome, cardiac valvular type ehlers-danlos syndrome, cardiac valvular type + + + + EDSCV + + @@ -94749,6 +107465,12 @@ nevo syndrome ehlers-danlos syndrome, kyphoscoliotic type, 1 + + + + EDSKSCL1 + + @@ -94776,6 +107498,12 @@ ehlers-danlos syndrome, type vii, autosomal recessive ehlers-danlos syndrome, dermatosparaxis type + + + + EDSDERMS + + @@ -94798,6 +107526,12 @@ mesoectodermal dysplasia ellis-van creveld syndrome + + + + EVC + + @@ -94834,6 +107568,12 @@ This term has one or more labels that end with ', INCLUDED'. aicardi-goutieres syndrome 1 + + + + AGS1 + + @@ -94846,6 +107586,12 @@ pontocerebellar hypoplasia, type 4 pontocerebellar hypoplasia, type 4 + + + + PCH4 + + @@ -94881,6 +107627,12 @@ proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome + + + + PVHH + + @@ -94900,6 +107652,12 @@ endocardial fibroelastosis endocardial fibroelastosis + + + + EFE + + @@ -94959,6 +107717,12 @@ complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy + + + + CHAPLE + + @@ -94992,6 +107756,12 @@ epidermodysplasia verruciformis, susceptibility to, 1 epidermodysplasia verruciformis, susceptibility to, 1 + + + + EV1 + + @@ -95039,6 +107809,12 @@ This term has one or more labels that end with ', INCLUDED'. epidermolysis bullosa dystrophica, autosomal recessive + + + + RDEB + + @@ -95058,6 +107834,12 @@ junctional epidermolysis bullosa inversa epidermolysis bullosa, junctional 1a, intermediate + + + + JEB1A + + @@ -95072,6 +107854,12 @@ md-ebs epidermolysis bullosa simplex 5b, with muscular dystrophy + + + + EBS5B + + @@ -95090,6 +107878,12 @@ jeb-herlitz type epidermolysis bullosa, junctional 1b, severe + + + + JEB1B + + @@ -95109,6 +107903,12 @@ junctional epidermolysis bullosa with pyloric atresia epidermolysis bullosa, junctional 5b, with pyloric atresia + + + + JEB5B + + @@ -95143,6 +107943,12 @@ kohlschutter-tonz syndrome kohlschutter-tonz syndrome + + + + KTZS + + @@ -95185,6 +107991,12 @@ multiple epiphyseal dysplasia, autosomal recessive epiphyseal dysplasia, multiple, 4 + + + + EDM4 + + @@ -95205,6 +108017,12 @@ lowry-wood syndrome lowry-wood syndrome + + + + LWS + + @@ -95252,6 +108070,12 @@ irf8 deficiency, autosomal recessive immunodeficiency 32b + + + + IMD32B + + @@ -95290,6 +108114,12 @@ transient erythroblastopenia of childhood transient erythroblastopenia of childhood + + + + TEC + + @@ -95355,6 +108185,12 @@ skin/hair/eye pigmentation, variation in, 1 skin/hair/eye pigmentation, variation in, 1 + + + + SHEP1 + + @@ -95369,6 +108205,12 @@ skin/hair/eye pigmentation, variation in, 5 skin/hair/eye pigmentation, variation in, 5 + + + + SHEP5 + + @@ -95403,6 +108245,12 @@ setleis syndrome focal facial dermal dysplasia 3, setleis type + + + + FFDD3 + + @@ -95465,6 +108313,12 @@ multiple coagulation factor deficiency 1 factor 5 and factor viii, combined deficiency of, 1 + + + + F5F8D1 + + @@ -95565,6 +108419,12 @@ fanconi pancytopenia, type 3 fanconi anemia, complementation group c + + + + FANCC + + @@ -95591,6 +108451,12 @@ fanconi pancytopenia, type 4 fanconi anemia, complementation group d2 + + + + FANCD2 + + @@ -95619,6 +108485,12 @@ This term has one or more labels that end with ', INCLUDED'. fanconi anemia, complementation group a + + + + FANCA + + @@ -95663,6 +108535,12 @@ pseudo-phlorizin diabetes fanconi-bickel syndrome + + + + FBS + + @@ -95687,6 +108565,12 @@ n-laurylsphingosine deacylase deficiency farber lipogranulomatosis + + + + FRBRL + + @@ -95754,6 +108638,12 @@ pasqualini syndrome hypogonadotropic hypogonadism 23 with or without anosmia + + + + HH23 + + @@ -95765,6 +108655,12 @@ fetal iodine deficiency disorder fetal iodine deficiency disorder + + + + FIDD + + @@ -95785,6 +108681,12 @@ fibrochondrogenesis 1 fibrochondrogenesis 1 + + + + FBCG1 + + @@ -95798,6 +108700,12 @@ myofibromatosis, juvenile myofibromatosis, infantile, 1 + + + + IMF1 + + @@ -95830,6 +108738,12 @@ hyalinosis, systemic hyaline fibromatosis syndrome + + + + HFS + + @@ -95854,6 +108768,12 @@ fibular hypoplasia and complex brachydactyly acromesomelic dysplasia 2b + + + + AMD2B + + @@ -95912,6 +108832,12 @@ fleck retina, familial benign fleck retina, familial benign + + + + FRFB + + @@ -95947,6 +108873,12 @@ KLKB1 + + + + KLKB1 + + @@ -96003,6 +108935,12 @@ hypogonadotropic hypogonadism 24 with or without anosmia hypogonadotropic hypogonadism 24 with or without anosmia + + + + HH24 + + @@ -96074,6 +109012,12 @@ fragilitas oculi with joint hyperextensibility brittle cornea syndrome 1 + + + + BCS1 + + @@ -96107,6 +109051,12 @@ This term has one or more labels that end with ', INCLUDED'. friedreich ataxia + + + + FRDA + + @@ -96163,6 +109113,12 @@ fructosemia fructose intolerance, hereditary + + + + HFI + + @@ -96194,6 +109150,12 @@ fructose-1,6-bisphosphatase deficiency fructose-1,6-bisphosphatase deficiency + + + + FBP1D + + @@ -96228,6 +109190,12 @@ fryns syndrome fryns syndrome + + + + FRNS + + @@ -96292,6 +109260,12 @@ galk deficiency galactosemia 2 + + + + GALAC2 + + @@ -96315,6 +109289,12 @@ udp-galactose-4-epimerase deficiency galactosemia 3 + + + + GALAC3 + + @@ -96343,6 +109323,12 @@ This term has one or more labels that end with ', INCLUDED'. galactosemia 1 + + + + GALAC1 + + @@ -96378,6 +109364,12 @@ This term has one or more labels that end with ', INCLUDED'. gm1-gangliosidosis, type 1 + + + + GM1G1 + + @@ -96392,6 +109384,12 @@ This term has one or more labels that end with ', INCLUDED'. gm1-gangliosidosis, type 2 + + + + GM1G2 + + @@ -96405,6 +109403,12 @@ gm1-gangliosidosis, type 3 gm1-gangliosidosis, type 3 + + + + GM1G3 + + @@ -96434,6 +109438,12 @@ growth retardation, alopecia, pseudoanodontia, and optic atrophy gapo syndrome + + + + GAPOS + + @@ -96460,6 +109470,12 @@ glucocerebrosidase deficiency gaucher disease, type 1 + + + + GD1 + + @@ -96472,6 +109488,12 @@ gd 2 gaucher disease, type 2 + + + + GD2 + + @@ -96490,6 +109512,12 @@ This term has one or more labels that end with ', INCLUDED'. gaucher disease, type 3 + + + + GD3 + + @@ -96500,6 +109528,12 @@ gaucher disease, type 3c gaucher disease, type 3c + + + + GD3C + + @@ -96523,6 +109557,12 @@ geleophysic dysplasia 1 geleophysic dysplasia 1 + + + + GPHYSD1 + + @@ -96558,6 +109598,12 @@ walt disney dwarfism geroderma osteodysplasticum + + + + GO + + @@ -96593,6 +109639,12 @@ hydatidiform mole, recurrent, 1 hydatidiform mole, recurrent, 1 + + + + HYDM1 + + @@ -96616,6 +109668,12 @@ ghosal syndrome ghosal hematodiaphyseal dysplasia + + + + GHDD + + @@ -96661,6 +109719,12 @@ This term has one or more labels that end with ', INCLUDED'. bernard-soulier syndrome + + + + BSS + + @@ -96676,6 +109740,12 @@ This term has one or more labels that end with ', INCLUDED'. glaucoma 3, primary congenital, a + + + + GLC3A + + @@ -96747,6 +109817,12 @@ This term has one or more labels that end with ', INCLUDED'. achalasia-addisonianism-alacrima syndrome + + + + AAAS + + @@ -96792,6 +109868,12 @@ glutaryl-coa dehydrogenase deficiency glutaric acidemia 1 + + + + GA1 + + @@ -96816,6 +109898,12 @@ ETFDH + + + + ETFDH + + @@ -96873,6 +109961,12 @@ This term has one or more labels that end with ', INCLUDED'. multiple acyl-coa dehydrogenase deficiency + + + + MADD + + @@ -96897,6 +109991,12 @@ glutaryl-coa oxidase deficiency glutaric aciduria 3 + + + + GA3 + + @@ -96907,6 +110007,12 @@ glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to + + + + GSSDE + + @@ -96965,6 +110071,12 @@ PCCA + + + + PCCA + + @@ -96989,6 +110101,12 @@ PCCB + + + + PCCB + + @@ -97018,6 +110136,12 @@ von gierke disease glycogen storage disease ia + + + + GSD1A + + @@ -97040,6 +110164,12 @@ gsd ib glycogen storage disease ib + + + + GSD1B + + @@ -97054,6 +110184,12 @@ This term has one or more labels that end with ', INCLUDED'. glycogen storage disease ic + + + + GSD1C + + @@ -97116,6 +110252,12 @@ This term has one or more labels that end with ', INCLUDED'. glycogen storage disease 3 + + + + GSD3 + + @@ -97142,6 +110284,12 @@ This term has one or more labels that end with ', INCLUDED'. glycogen storage disease 4 + + + + GSD4 + + @@ -97170,6 +110318,12 @@ pygm deficiency glycogen storage disease 5 + + + + GSD5 + + @@ -97196,6 +110350,12 @@ phosphorylase deficiency glycogen-storage disease of liver glycogen storage disease 6 + + + + GSD6 + + @@ -97223,6 +110383,12 @@ tarui disease glycogen storage disease 7 + + + + GSD7 + + @@ -97256,6 +110422,12 @@ renal glucosuria renal glucosuria + + + + GLYS + + @@ -97282,6 +110454,12 @@ xx gonadal dysgenesis ovarian dysgenesis 1 + + + + ODG1 + + @@ -97295,6 +110473,12 @@ perrault syndrome 1 perrault syndrome 1 + + + + PRLTS1 + + @@ -97309,6 +110493,12 @@ gonadal dysgenesis, xy, male-limited 46,xy sex reversal 7 + + + + SRXY7 + + @@ -97360,6 +110550,12 @@ immunodeficiency 59 and hypoglycemia immunodeficiency 59 and hypoglycemia + + + + IMD59 + + @@ -97370,6 +110566,12 @@ combined cellular and humoral immune defects with granulomas combined cellular and humoral immune defects with granulomas + + + + CCHIDG + + @@ -97407,6 +110609,12 @@ granulomatous disease, chronic, autosomal recessive, cytochrome b-negative granulomatous disease, chronic, autosomal recessive, 4 + + + + CGD4 + + @@ -97438,6 +110646,12 @@ soluble oxidase component 2 deficiency granulomatous disease, chronic, autosomal recessive, 1 + + + + CGD1 + + @@ -97467,6 +110681,12 @@ p67-phox deficiency granulomatous disease, chronic, autosomal recessive, 2 + + + + CGD2 + + @@ -97512,6 +110732,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperphenylalaninemia, bh4-deficient, B + + + + HPABH4B + + @@ -97563,6 +110789,12 @@ trichothiodystrophy-neurocutaneous syndrome trichothiodystrophy 4, nonphotosensitive + + + + TTD4 + + @@ -97574,6 +110806,12 @@ hallermann-streiff syndrome hallermann-streiff syndrome + + + + HSS + + @@ -97602,6 +110840,12 @@ pkan neuroaxonal dystrophy, juvenile-onset neurodegeneration with brain iron accumulation 1 + + + + NBIA1 + + @@ -97663,6 +110907,12 @@ hartnup disorder hartnup disorder + + + + HND + + @@ -97676,6 +110926,12 @@ peroxisome biogenesis disorder 1c heimler syndrome 1 + + + + HMLR1 + + @@ -97727,6 +110983,12 @@ pulmonary venoocclusive disease 2, autosomal recessive pulmonary venoocclusive disease 2, autosomal recessive + + + + PVOD2 + + @@ -97756,6 +111018,12 @@ This term has one or more labels that end with ', INCLUDED'. hemihyperplasia, isolated + + + + IH + + @@ -97781,6 +111049,12 @@ hemochromatosis, type 1 hemochromatosis, type 1 + + + + HFE1 + + @@ -97823,6 +111097,12 @@ This term has one or more labels that end with ', INCLUDED'. hemolytic uremic syndrome, atypical, susceptibility to, 1 + + + + AHUS1 + + @@ -97857,6 +111137,12 @@ lymphatic dysplasia, generalized hennekam lymphangiectasia-lymphedema syndrome 1 + + + + HKLLS1 + + @@ -97867,6 +111153,12 @@ hepatic venoocclusive disease with immunodeficiency hepatic venoocclusive disease with immunodeficiency + + + + VODI + + @@ -97891,6 +111183,12 @@ cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency bile acid synthesis defect, congenital, 2 + + + + CBAS2 + + @@ -97933,6 +111231,12 @@ mowat-wilson syndrome mowat-wilson syndrome + + + + MOWS + + @@ -98035,6 +111339,12 @@ lymphoma, hodgkin, classic lymphoma, hodgkin, classic + + + + CHL + + @@ -98057,6 +111367,12 @@ hpe, familial holoprosencephaly 1 + + + + HPE1 + + @@ -98109,6 +111425,7 @@ + HMAE homocystinuria-megaloblastic anemia due to defect 1n cobalamin metabolism, cble complementation type homocystinuria-megaloblastic anemia, cble complementation type @@ -98116,6 +111433,12 @@ vitamin b12-responsive homocystinuria, cble type homocystinuria-megaloblastic anemia, cble complementation type + + + + HMAE + + @@ -98188,6 +111511,12 @@ multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly + + + + MARCH + + @@ -98202,6 +111531,12 @@ ventriculomegaly hydrocephalus, congenital, 1 + + + + HYC1 + + @@ -98246,6 +111581,12 @@ walker-warburg syndrome or muscle-eye-brain disease, pomt1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 + + + + MDDGA1 + + @@ -98269,6 +111610,12 @@ hydrolethalus syndrome 1 hydrolethalus syndrome 1 + + + + HLS1 + + @@ -98279,6 +111626,12 @@ hydrocephalus, normal-pressure, 1 hydrocephalus, normal-pressure, 1 + + + + HYDNP1 + + @@ -98292,6 +111645,12 @@ mckusick-kaufman syndrome mckusick-kaufman syndrome + + + + MKKS + + @@ -98320,6 +111679,12 @@ urofacial syndrome 1 urofacial syndrome 1 + + + + UFS1 + + @@ -98330,6 +111695,12 @@ hydrops fetalis, nonimmune hydrops fetalis, nonimmune + + + + NIHF + + @@ -98353,6 +111724,12 @@ l-2-hydroxyglutaric aciduria l-2-hydroxyglutaric aciduria + + + + L2HGA + + @@ -98437,6 +111814,12 @@ nags deficiency n-acetylglutamate synthase deficiency + + + + NAGSD + + @@ -98483,6 +111866,12 @@ rotor syndrome hyperbilirubinemia, rotor type + + + + HBLRR + + @@ -98508,6 +111897,12 @@ hyperbilirubinemia, dubin-johnson type dubin-johnson syndrome + + + + DJS + + @@ -98527,6 +111922,12 @@ hyperbilirubinemia, shunt, primary hyperbilirubinemia, shunt, primary + + + + PSHB + + @@ -98541,6 +111942,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperbilirubinemia, transient familial neonatal + + + + HBLRTFN + + @@ -98575,6 +111982,12 @@ GLDC + + + + GLDC + + @@ -98599,6 +112012,12 @@ AMT + + + + AMT + + @@ -98639,6 +112058,12 @@ GCSH + + + + GCSH + + @@ -98670,6 +112095,12 @@ DLD + + + + DLD + + @@ -98784,6 +112215,12 @@ luft syndrome hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 + + + + HUMOP1 + + @@ -98817,6 +112254,12 @@ ornithine translocase deficiency hyperornithinemia-hyperammonemia-homocitrullinuria syndrome + + + + HHHS + + @@ -98845,6 +112288,12 @@ paget disease of bone 5, juvenile-onset paget disease of bone 5, juvenile-onset + + + + PDB5 + + @@ -98864,6 +112313,12 @@ van buchem disease van buchem disease + + + + VBCH + + @@ -98886,6 +112341,12 @@ nsph hyperparathyroidism, neonatal severe + + + + NSHPT + + @@ -98911,6 +112372,12 @@ mabry syndrome hyperphosphatasia with impaired intellectual development syndrome 1 + + + + HPMRS1 + + @@ -98942,6 +112409,12 @@ proline oxidase deficiency hyperprolinemia, type 1 + + + + HYRPRO1 + + @@ -98966,6 +112439,12 @@ hyperprolinemia, type 2 hyperprolinemia, type 2 + + + + HYRPRO2 + + @@ -99097,6 +112576,12 @@ This term has one or more labels that end with ', INCLUDED'. autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia + + + + APS1 + + @@ -99131,6 +112616,12 @@ immunodeficiency, common variable, 2 immunodeficiency, common variable, 2 + + + + CVID2 + + @@ -99158,6 +112649,12 @@ liver glycogen synthase deficiency glycogen storage disease 0, liver + + + + GSD0A + + @@ -99169,6 +112666,12 @@ leucine-sensitive hypoglycemia of infancy hypoglycemia, leucine-induced + + + + LIH + + @@ -99179,6 +112682,12 @@ hypoinsulinemic hypoglycemia with hemihypertrophy hypoinsulinemic hypoglycemia with hemihypertrophy + + + + HIHGHH + + @@ -99223,6 +112732,12 @@ wss woodhouse-sakati syndrome + + + + WDSKS + + @@ -99289,6 +112804,12 @@ hypokalemic alkalosis with hypercalciuria 2, antenatal bartter syndrome, type 2, antenatal + + + + BARTS2 + + @@ -99320,6 +112841,12 @@ sanjad-sakati syndrome hypoparathyroidism-retardation-dysmorphism syndrome + + + + HRDS + + @@ -99334,6 +112861,12 @@ This term has one or more labels that end with ', INCLUDED'. hypophosphatasia, infantile + + + + HPPI + + @@ -99344,6 +112877,12 @@ hypophosphatasia, childhood hypophosphatasia, childhood + + + + HPPC + + @@ -99378,6 +112917,12 @@ hypophosphatemic rickets, autosomal recessive, 1 hypophosphatemic rickets, autosomal recessive, 1 + + + + ARHR1 + + @@ -99401,6 +112946,12 @@ hypophosphatemic rickets with hypercalciuria, hereditary hypophosphatemic rickets with hypercalciuria, hereditary + + + + HHRH + + @@ -99421,6 +112972,12 @@ hypoplastic left heart syndrome 1 hypoplastic left heart syndrome 1 + + + + HLHS1 + + @@ -99437,6 +112994,12 @@ mhc class 1 deficiency 4 immunodeficiency 43 + + + + IMD43 + + @@ -99466,6 +113029,12 @@ pallister-hall-like syndrome pallister-hall-like syndrome + + + + PHLS + + @@ -99478,6 +113047,12 @@ hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate bamforth-lazarus syndrome + + + + BAMLAZ + + @@ -99522,6 +113097,12 @@ ichthyosis, congenital, autosomal recessive 2 ichthyosis, congenital, autosomal recessive 2 + + + + ARCI2 + + @@ -99548,6 +113129,12 @@ kid syndrome, autosomal recessive keratitis-ichthyosis-deafness syndrome, autosomal recessive + + + + KIDAR + + @@ -99588,6 +113175,12 @@ lamellar exfoliation of newborn ichthyosis, congenital, autosomal recessive 1 + + + + ARCI1 + + @@ -99611,6 +113204,12 @@ ichthyosis, congenital, autosomal recessive 4b ichthyosis, congenital, autosomal recessive 4b + + + + ARCI4B + + @@ -99700,6 +113299,12 @@ t-lymphocyte deficiency t-cell immunodeficiency with thymic aplasia + + + + TIDTA + + @@ -99733,6 +113338,12 @@ vici syndrome vici syndrome + + + + VICIS + + @@ -99756,6 +113367,12 @@ immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome 1 + + + + ICF1 + + @@ -99807,6 +113424,12 @@ schimke immunoosseous dysplasia schimke immunoosseous dysplasia + + + + SIOD + + @@ -99822,6 +113445,12 @@ This term has one or more labels that end with ', INCLUDED'. indifference to pain, congenital, autosomal recessive + + + + CIP + + @@ -99857,6 +113486,12 @@ spermatogenic failure 5 spermatogenic failure 5 + + + + SPGF5 + + @@ -99920,6 +113555,12 @@ multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency gastrointestinal defects and immunodeficiency syndrome 1 + + + + GIDID1 + + @@ -99937,6 +113578,12 @@ This term has one or more labels that end with ', INCLUDED'. visceral neuropathy, familial, 1, autosomal recessive + + + + VSCN1 + + @@ -99968,6 +113615,12 @@ summerskill syndrome cholestasis, benign recurrent intrahepatic, 1 + + + + BRIC1 + + @@ -99993,6 +113646,12 @@ INVS + + + + INVS + + @@ -100011,6 +113670,12 @@ pachygyria, mental retardation, epilepsy, and characteristic facies baraitser-winter syndrome 1 + + + + BRWS1 + + @@ -100100,6 +113765,12 @@ ivd deficiency isovaleric acidemia + + + + IVA + + @@ -100136,6 +113807,12 @@ stromme syndrome stromme syndrome + + + + STROMS + + @@ -100162,6 +113839,12 @@ hyper-ige syndrome, autosomal recessive hyper-ige syndrome 2, autosomal recessive, with recurrent infections + + + + HIES2 + + @@ -100185,6 +113868,12 @@ nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness johanson-blizzard syndrome + + + + JBS + + @@ -100230,6 +113919,12 @@ hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia + + + + HH3 + + @@ -100271,6 +113966,12 @@ This term has one or more labels that end with ', INCLUDED'. ciliary dyskinesia, primary, 1 + + + + CILD1 + + @@ -100294,6 +113995,12 @@ kaufman oculocerebrofacial syndrome kaufman oculocerebrofacial syndrome + + + + KOS + + @@ -100307,6 +114014,12 @@ kenny-caffey syndrome, type 1 kenny-caffey syndrome, type 1 + + + + KCS1 + + @@ -100337,6 +114050,12 @@ This term has one or more labels that end with ', INCLUDED'. keratoconus posticus circumscriptus + + + + KPC + + @@ -100358,6 +114077,12 @@ pls papillon-lefevre syndrome + + + + PALS + + @@ -100370,6 +114095,12 @@ keratosis palmoplantaris with periodontopathia and onychogryposis haim-munk syndrome + + + + HMS + + @@ -100396,6 +114127,12 @@ succinyl-coa:acetoacetate transferase deficiency succinyl-coa:3-oxoacid-coa transferase deficiency + + + + SCOTD + + @@ -100407,6 +114144,12 @@ richards-rundle syndrome richards-rundle syndrome + + + + RRNS + + @@ -100439,6 +114182,12 @@ pulmonic stenosis, brachytelephalangism, and calcification of cartilages keutel syndrome + + + + KTLS + + @@ -100494,6 +114243,12 @@ krabbe disease krabbe disease + + + + KRB + + @@ -100547,6 +114302,12 @@ pyruvate dehydrogenase e2 deficiency pyruvate dehydrogenase e2 deficiency + + + + PDHDD + + @@ -100571,6 +114332,12 @@ pyruvate dehydrogenase e3-binding protein deficiency pyruvate dehydrogenase e3-binding protein deficiency + + + + PDHXD + + @@ -100596,6 +114363,12 @@ mitochondrial dna depletion syndrome 9 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) + + + + MTDPS9 + + @@ -100626,6 +114399,12 @@ uric acid concentration, serum, quantitative trait locus 7 d-lactic aciduria with gout + + + + DLACD + + @@ -100639,6 +114418,12 @@ specific granule deficiency 1 specific granule deficiency 1 + + + + SGD1 + + @@ -100697,6 +114482,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, focal, with speech disorder and with or without impaired intellectual development + + + + FESD + + @@ -100710,6 +114501,12 @@ laron syndrome due to postreceptor defect growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive + + + + GHISID1 + + @@ -100733,6 +114530,12 @@ multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects + + + + JDSCD + + @@ -100754,6 +114557,12 @@ logic syndrome epidermolysis bullosa, junctional 2c, laryngoonychocutaneous + + + + JEB2C + + @@ -100764,6 +114573,12 @@ laurence-moon syndrome laurence-moon syndrome + + + + LNMS + + @@ -100806,6 +114621,12 @@ leprosy, susceptibility to, 3 leprosy, susceptibility to, 3 + + + + LPRS3 + + @@ -100843,6 +114664,12 @@ hydroxymethylglutaric aciduria 3-hydroxy-3-methylglutaryl-coa lyase deficiency + + + + HMGCLD + + @@ -100887,6 +114714,12 @@ leukotriene c4 synthase LTC4S + + + + LTC4S + + @@ -100926,6 +114759,12 @@ split-hand/foot malformation 3 split-hand/foot malformation 3 + + + + SHFM3 + + @@ -100961,6 +114800,12 @@ PNLIP + + + + PNLIP + + @@ -101010,6 +114855,12 @@ lipid transport defect of intestine chylomicron retention disease + + + + CMRD + + @@ -101046,6 +114897,12 @@ maple syrup urine disease, type 3 dihydrolipoamide dehydrogenase deficiency + + + + DLDD + + @@ -101100,6 +114957,12 @@ This term has one or more labels that end with ', INCLUDED'. miller-dieker lissencephaly syndrome + + + + MDLS + + @@ -101167,6 +115030,12 @@ lymphoid interstitial pneumonia lymphoid interstitial pneumonia + + + + LIP + + @@ -101193,6 +115062,12 @@ lymphomatous all lymphoblastic leukemia, acute, with lymphomatous features + + + + LALL + + @@ -101260,6 +115135,12 @@ macrocephaly/megalencephaly syndrome, autosomal recessive macrocephaly/megalencephaly syndrome, autosomal recessive + + + + MGCPH + + @@ -101314,6 +115195,12 @@ macular coloboma, bilateral, with hypercalciuria hypomagnesemia 5, renal, with or without ocular involvement + + + + HOMG5 + + @@ -101330,6 +115217,12 @@ This term has one or more labels that end with ', INCLUDED'. stargardt disease 1 + + + + STGD1 + + @@ -101358,6 +115251,12 @@ This term has one or more labels that end with ', INCLUDED'. hypomagnesemia 3, renal + + + + HOMG3 + + @@ -101393,6 +115292,12 @@ palmoplantar keratoderma, norrbotten recessive type mal lange meleda + + + + MDM + + @@ -101435,6 +115340,12 @@ malpuech facial clefting syndrome, formerly 3mc syndrome 3 + + + + 3MC3 + + @@ -101480,6 +115391,12 @@ This term has one or more labels that end with ', INCLUDED'. mandibuloacral dysplasia with type a lipodystrophy + + + + MADA + + @@ -101492,6 +115409,12 @@ treacher collins syndrome 3 treacher collins syndrome 3 + + + + TCS3 + + @@ -101513,6 +115436,12 @@ marles syndrome manitoba oculotrichoanal syndrome + + + + MOTA + + @@ -101538,6 +115467,12 @@ mannosidosis, alpha b, lysosomal mannosidosis, alpha b, lysosomal + + + + MANSA + + @@ -101563,6 +115498,12 @@ mannosidosis, beta a, lysosomal mannosidosis, beta a, lysosomal + + + + MANSB + + @@ -101591,6 +115532,12 @@ maple syrup urine disease, type 1a maple syrup urine disease, type 1a + + + + MSUD1A + + @@ -101616,6 +115563,12 @@ DBT + + + + DBT + + @@ -101640,6 +115593,12 @@ BCKDHB + + + + BCKDHB + + @@ -101651,6 +115610,12 @@ mws marden-walker syndrome + + + + MWKS + + @@ -101701,6 +115666,12 @@ marinesco-sjogren syndrome marinesco-sjogren syndrome + + + + MSS + + @@ -101734,6 +115705,12 @@ spastic paraplegia 21, autosomal recessive mast syndrome + + + + MASTS + + @@ -101769,6 +115746,12 @@ mes meckel syndrome, type 1 + + + + MKS1 + + @@ -101782,6 +115765,12 @@ polyserositis, recurrent familial mediterranean fever + + + + FMF + + @@ -101795,6 +115784,12 @@ megacystis-microcolon-intestinal hypoperistalsis syndrome 1 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 + + + + MMIHS1 + + @@ -101843,6 +115838,12 @@ thiamine-responsive myelodysplasia thiamine-responsive megaloblastic anemia syndrome + + + + TRMA + + @@ -101880,6 +115881,12 @@ neuromelanosis melanosis, neurocutaneous + + + + NCMS + + @@ -101905,6 +115912,12 @@ ter haar syndrome frank-ter haar syndrome + + + + FTHS + + @@ -101929,6 +115942,12 @@ mental retardation, autosomal recessive 1 intellectual developmental disorder, autosomal recessive 1 + + + + MRT1 + + @@ -101982,6 +116001,12 @@ mercaptolactate-cysteine disulfiduria mercaptolactate-cysteine disulfiduria + + + + MCDU + + @@ -102013,6 +116038,12 @@ mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type langer mesomelic dysplasia + + + + LMD + + @@ -102044,6 +116075,12 @@ saposin B deficiency metachromatic leukodystrophy due to saposin B deficiency + + + + MLDSAPB + + @@ -102077,6 +116114,12 @@ This term has one or more labels that end with ', INCLUDED'. metachromatic leukodystrophy + + + + MLD + + @@ -102113,6 +116156,12 @@ spondylometaphyseal dysplasia, sedaghatian type spondylometaphyseal dysplasia, sedaghatian type + + + + SMDS + + @@ -102133,6 +116182,12 @@ metaphyseal chondrodysplasia, mckusick type cartilage-hair hypoplasia + + + + CHH + + @@ -102153,6 +116208,12 @@ metaphyseal dysplasia, spahr type metaphyseal dysplasia, spahr type + + + + MDST + + @@ -102176,6 +116237,12 @@ retinitis pigmentosa with or without skeletal anomalies retinitis pigmentosa with or without skeletal anomalies + + + + RPSKA + + @@ -102207,6 +116274,12 @@ metaphyseal dysplasia without hypotrichosis metaphyseal dysplasia without hypotrichosis + + + + MDWH + + @@ -102252,6 +116325,12 @@ valine metabolic defect 3-hydroxyisobutyryl-coa hydrolase deficiency + + + + HIBCHD + + @@ -102297,6 +116376,12 @@ methemoglobinemia type iv, formerly methemoglobinemia and ambiguous genitalia + + + + METAG + + @@ -102343,6 +116428,7 @@ + HMAG homocystinuria-megaloblastic anemia due to defect 1n cobalamin metabolism, cblg complementation type homocystinuria-megaloblastic anemia, cblg complementation type @@ -102350,6 +116436,12 @@ methylcobalamin deficiency, cblg type homocystinuria-megaloblastic anemia, cblg complementation type + + + + HMAG + + @@ -102376,6 +116468,12 @@ mga, type 1 3-methylglutaconic aciduria, type 1 + + + + MGCA1 + + @@ -102388,12 +116486,19 @@ mga, type 4 3-methylglutaconic aciduria, type 4 + + + + MGCA4 + + + @@ -102421,6 +116526,7 @@ + @@ -102444,6 +116550,7 @@ + @@ -102520,6 +116627,12 @@ mevalonate kinase MVK + + + + MVK + + @@ -102555,6 +116668,12 @@ premature chromosome condensation with microcephaly and mental retardation microcephaly 1, primary, autosomal recessive + + + + MCPH1 + + @@ -102574,6 +116693,12 @@ microcephaly-micromelia syndrome microcephaly-micromelia syndrome + + + + MIMIS + + @@ -102604,6 +116729,12 @@ microcephaly with mental retardation and digital anomalies jawad syndrome + + + + JWDS + + @@ -102622,6 +116753,12 @@ This term has one or more labels that end with ', INCLUDED'. nijmegen breakage syndrome + + + + NBS + + @@ -102645,6 +116782,12 @@ microcephaly and chorioretinopathy, autosomal recessive, 1 microcephaly and chorioretinopathy, autosomal recessive, 1 + + + + MCCRP1 + + @@ -102669,6 +116812,12 @@ microcephaly, seizures, spasticity, and brain calcifications diencephalic-mesencephalic junction dysplasia syndrome 1 + + + + DMJDS1 + + @@ -102694,6 +116843,12 @@ pseudo-torch syndrome 1 pseudo-torch syndrome 1 + + + + PTORCH1 + + @@ -102723,6 +116878,12 @@ spinocerebellar ataxia, autosomal recessive 5, formerly galloway-mowat syndrome 1 + + + + GAMOS1 + + @@ -102747,6 +116908,12 @@ This term has one or more labels that end with ', INCLUDED'. desbuquois dysplasia 1 + + + + DBQD1 + + @@ -102777,6 +116944,12 @@ microphthalmia/coloboma 4 microphthalmia/coloboma 4 + + + + MCOPCB4 + + @@ -102797,6 +116970,12 @@ microphthalmos, autosomal recessive microphthalmia, isolated 1 + + + + MCOP1 + + @@ -102816,6 +116995,12 @@ microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma + + + + MSPKA + + @@ -102841,6 +117026,12 @@ microvillus inclusion disease 1 diarrhea 2, with microvillus atrophy, with or without cholestasis + + + + DIAR2 + + @@ -102853,6 +117044,12 @@ mitochondrial dna depletion syndrome 3 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) + + + + MTDPS3 + + @@ -102892,6 +117089,12 @@ multiple mitochondrial dysfunctions syndrome 8 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy + + + + MEOAL + + @@ -102923,6 +117126,12 @@ mitochondrial myopathy with lactic acidosis mitochondrial myopathy with lactic acidosis + + + + MMLA + + @@ -102950,6 +117159,12 @@ nadh:q(1) oxidoreductase deficiency mitochondrial complex 1 deficiency, nuclear type 1 + + + + MC1DN1 + + @@ -102963,6 +117178,12 @@ succinate dehydrogenase deficiency mitochondrial complex 2 deficiency, nuclear type 1 + + + + MC2DN1 + + @@ -102987,6 +117208,12 @@ orofaciodigital syndrome 2 orofaciodigital syndrome 2 + + + + OFD2 + + @@ -103012,6 +117239,12 @@ sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of molybdenum cofactor deficiency, type a + + + + MOCODA + + @@ -103036,6 +117269,12 @@ molybdenum cofactor deficiency, type B molybdenum cofactor deficiency, type B + + + + MOCODB + + @@ -103069,6 +117308,12 @@ monosomy 7 of bone marrow monosomy 7 myelodysplasia and leukemia syndrome 1 + + + + M7MLS1 + + @@ -103107,6 +117352,12 @@ spontaneous occlusion of the circle of willis moyamoya disease 1 + + + + MYMY1 + + @@ -103178,6 +117429,12 @@ sialolipidosis mucolipidosis 4 + + + + ML4 + + @@ -103223,6 +117480,12 @@ iduronidase, alpha-l IDUA + + + + IDUA + + @@ -103250,6 +117513,12 @@ sulfamidase deficiency mucopolysaccharidosis, type 3a + + + + MPS3A + + @@ -103265,6 +117534,12 @@ sanfilippo syndrome B mucopolysaccharidosis, type 3b + + + + MPS3B + + @@ -103279,6 +117554,12 @@ sanfilippo syndrome c mucopolysaccharidosis, type 3c + + + + MPS3C + + @@ -103304,6 +117585,12 @@ sanfilippo syndrome d mucopolysaccharidosis, type 3d + + + + MPS3D + + @@ -103332,6 +117619,12 @@ mucopolysaccharidosis, type 4a mucopolysaccharidosis, type 4a + + + + MPS4A + + @@ -103345,6 +117638,12 @@ mucopolysaccharidosis, type 4b mucopolysaccharidosis, type 4b + + + + MPS4B + + @@ -103373,6 +117672,12 @@ n-acetylgalactosamine-4-sulfatase deficiency mucopolysaccharidosis, type 6 + + + + MPS6 + + @@ -103400,6 +117705,12 @@ sly syndrome mucopolysaccharidosis, type 7 + + + + MPS7 + + @@ -103443,6 +117754,12 @@ pericardial constriction and growth failure mulibrey nanism + + + + MUL + + @@ -103503,6 +117820,12 @@ walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 + + + + MDDGA3 + + @@ -103514,6 +117837,12 @@ pterygium syndrome, multiple, lethal type multiple pterygium syndrome, lethal type + + + + LMPS + + @@ -103528,6 +117857,12 @@ werdnig-hoffmann disease spinal muscular atrophy, type 1 + + + + SMA1 + + @@ -103541,6 +117876,12 @@ multiple contracture syndrome, finnish type lethal congenital contracture syndrome 1 + + + + LCCS1 + + @@ -103577,6 +117918,12 @@ spinal muscular atrophy, type 3 spinal muscular atrophy, type 3 + + + + SMA3 + + @@ -103600,6 +117947,12 @@ spinal muscular atrophy, type 2 spinal muscular atrophy, type 2 + + + + SMA2 + + @@ -103627,6 +117980,12 @@ This term has one or more labels that end with ', INCLUDED'. muscular dystrophy, limb-girdle, autosomal recessive 1 + + + + LGMDR1 + + @@ -103640,6 +117999,12 @@ muscular dystrophy, limb-girdle, type 3 muscular dystrophy, limb-girdle, autosomal recessive 2 + + + + LGMDR2 + + @@ -103671,6 +118036,12 @@ severe childhood autosomal recessive muscular dystrophy, north african type muscular dystrophy, limb-girdle, autosomal recessive 5 + + + + LGMDR5 + + @@ -103684,6 +118055,12 @@ walker-warburg syndrome or muscle-eye-brain disease, fktn-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 + + + + MDDGA4 + + @@ -103730,6 +118107,12 @@ This term has one or more labels that end with ', INCLUDED'. ullrich congenital muscular dystrophy 1a + + + + UCMD1A + + @@ -103740,6 +118123,12 @@ muscular dystrophy, congenital, with rapid progression muscular dystrophy, congenital, with rapid progression + + + + MDRP + + @@ -103754,6 +118143,12 @@ sarcotubular myopathy muscular dystrophy, limb-girdle, autosomal recessive 8 + + + + LGMDR8 + + @@ -103776,6 +118171,12 @@ muscular dystrophy, distal, late-onset, autosomal recessive miyoshi muscular dystrophy 1 + + + + MMD1 + + @@ -103813,6 +118214,12 @@ myasthenia gravis myasthenia gravis + + + + MG + + @@ -103841,6 +118248,12 @@ myasthenic syndrome, presynaptic, congenital, associated with episodic apnea myasthenic syndrome, congenital, 6, presynaptic + + + + CMS6 + + @@ -103856,6 +118269,12 @@ myasthenic syndrome, congenital, 10 myasthenic syndrome, congenital, 10 + + + + CMS10 + + @@ -103899,6 +118318,12 @@ myeloperoxidase deficiency myeloperoxidase deficiency + + + + MPOD + + @@ -103924,6 +118349,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, myoclonic juvenile + + + + EJM + + @@ -103954,6 +118385,12 @@ myoclonic epilepsy of lafora 1 myoclonic epilepsy of lafora 1 + + + + MELF1 + + @@ -104006,6 +118443,12 @@ myoclonus-nephropathy syndrome epilepsy, progressive myoclonic, 4, with or without renal failure + + + + EPM4 + + @@ -104031,6 +118474,12 @@ myopathy, congenital nonprogressive, with moebius sequence and robin sequence carey-fineman-ziter syndrome 1 + + + + CFZS1 + + @@ -104071,6 +118520,12 @@ lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency + + + + LSMFLAD + + @@ -104133,6 +118588,12 @@ myopathy with lactic acidosis, hereditary myopathy with lactic acidosis, hereditary + + + + HML + + @@ -104155,6 +118616,12 @@ myopathy, myosin storage, autosomal recessive congenital myopathy 7b, myosin storage, autosomal recessive + + + + CMYO7B + + @@ -104189,6 +118656,12 @@ myotubular myopathy, autosomal recessive myopathy, centronuclear, 2 + + + + CNM2 + + @@ -104213,6 +118686,12 @@ nemaline myopathy 1 congenital myopathy 4a, autosomal dominant + + + + CMYO4A + + @@ -104230,6 +118709,12 @@ multiminicore myopathy congenital myopathy 1b, autosomal recessive + + + + CMYO1B + + @@ -104247,6 +118732,12 @@ myopia 18, autosomal recessive myopia 18, autosomal recessive + + + + MYP18 + + @@ -104294,6 +118785,12 @@ sja syndrome schwartz-jampel syndrome, type 1 + + + + SJS1 + + @@ -104357,6 +118854,12 @@ native american myopathy congenital myopathy 13 + + + + CMYO13 + + @@ -104368,6 +118871,12 @@ necrotizing encephalopathy, infantile subacute, of leigh leigh syndrome, nuclear + + + + NULS + + @@ -104382,6 +118891,12 @@ nail-patella-like renal disease focal segmental glomerulosclerosis 10 + + + + FSGS10 + + @@ -104393,6 +118908,12 @@ nemaline myopathy 2 nemaline myopathy 2 + + + + NEM2 + + @@ -104423,6 +118944,12 @@ This term has one or more labels that end with ', INCLUDED'. proteasome-associated autoinflammatory syndrome 1 + + + + PRAAS1 + + @@ -104438,6 +118965,12 @@ This term has one or more labels that end with ', INCLUDED'. atelosteogenesis, type 2 + + + + AO2 + + @@ -104451,6 +118984,12 @@ nph1 nephronophthisis 1 + + + + NPHP1 + + @@ -104503,6 +119042,12 @@ nephrotic syndrome, type 1 nephrotic syndrome, type 1 + + + + NPHS1 + + @@ -104532,6 +119077,12 @@ nephrotic syndrome, type 4 nephrotic syndrome, type 4 + + + + NPHS4 + + @@ -104549,6 +119100,12 @@ persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, familial, 1 + + + + HHF1 + + @@ -104575,6 +119132,12 @@ ns netherton syndrome + + + + NETH + + @@ -104587,6 +119150,12 @@ neu-laxova syndrome 1 neu-laxova syndrome 1 + + + + NLS1 + + @@ -104616,6 +119185,12 @@ protective protein/cathepsin a deficiency galactosialidosis + + + + GSL + + @@ -104654,6 +119229,12 @@ seitelberger disease neurodegeneration with brain iron accumulation 2a + + + + NBIA2A + + @@ -104676,6 +119257,12 @@ This term has one or more labels that end with ', INCLUDED'. neuroblastoma, susceptibility to, 1 + + + + NBLST1 + + @@ -104723,6 +119310,12 @@ This term has one or more labels that end with ', INCLUDED'. ceroid lipofuscinosis, neuronal, 1 + + + + CLN1 + + @@ -104750,6 +119343,12 @@ This term has one or more labels that end with ', INCLUDED'. ceroid lipofuscinosis, neuronal, 5 + + + + CLN5 + + @@ -104777,6 +119376,12 @@ neuropathy, congenital sensory, with anhidrosis insensitivity to pain, congenital, with anhidrosis + + + + CIPA + + @@ -104793,6 +119398,12 @@ This term has one or more labels that end with ', INCLUDED'. mitochondrial DNA depletion syndrome 6 (hepatocerebral type) + + + + MTDPS6 + + @@ -104821,6 +119432,12 @@ neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive + + + + HSNSP + + @@ -104845,6 +119462,12 @@ giant axonal neuropathy 1, autosomal recessive giant axonal neuropathy 1, autosomal recessive + + + + GAN1 + + @@ -104920,6 +119543,12 @@ neutrophil actin dysfunction neutrophil actin dysfunction + + + + NAD + + @@ -104954,6 +119583,12 @@ This term has one or more labels that end with ', INCLUDED'. niemann-pick disease, type c1 + + + + NPC1 + + @@ -104988,6 +119623,12 @@ night blindness, congenital stationary, type 1b night blindness, congenital stationary, type 1b + + + + CSNB1B + + @@ -105000,6 +119641,12 @@ mva syndrome mosaic variegated aneuploidy syndrome 1 + + + + MVA1 + + @@ -105013,6 +119660,12 @@ norman-roberts syndrome lissencephaly 2 + + + + LIS2 + + @@ -105034,6 +119687,12 @@ nystagmus 8, congenital, autosomal recessive nystagmus 8, congenital, autosomal recessive + + + + NYS8 + + @@ -105139,6 +119798,12 @@ oculopalatoskeletal syndrome 3mc syndrome 1 + + + + 3MC1 + + @@ -105158,6 +119823,12 @@ oculotrichodysplasia oculotrichodysplasia + + + + OTD + + @@ -105180,6 +119851,12 @@ odontoonychodermal dysplasia odontoonychodermal dysplasia + + + + OODD + + @@ -105235,6 +119912,12 @@ spermatogenic failure 1 spermatogenic failure 1 + + + + SPGF1 + + @@ -105282,6 +119965,12 @@ omodysplasia, generalized form omodysplasia 1 + + + + OMOD1 + + @@ -105322,6 +120011,12 @@ progressive external ophthalmoplegia, autosomal recessive 1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 + + + + PEOB1 + + @@ -105353,6 +120048,12 @@ opsismodysplasia opsismodysplasia + + + + OPSMD + + @@ -105371,6 +120072,12 @@ optic atrophy, congenital or early infantile, autosomal recessive optic atrophy 6 + + + + OPA6 + + @@ -105389,6 +120096,12 @@ optic atrophy, infantile, with chorea and spastic paraplegia 3-methylglutaconic aciduria, type 3 + + + + MGCA3 + + @@ -105410,6 +120123,12 @@ optic neuropathy, anterior ischemic, susceptibility to nonarteritic anterior ischemic optic neuropathy, susceptibility to + + + + NAION + + @@ -105451,6 +120170,12 @@ sugarman syndrome orofaciodigital syndrome 3 + + + + OFD3 + + @@ -105468,6 +120193,12 @@ orofaciodigital syndrome 4 orofaciodigital syndrome 4 + + + + OFD4 + + @@ -105483,6 +120214,12 @@ orofaciodigital syndrome with retinal abnormalities orofaciodigital syndrome 9 + + + + OFD9 + + @@ -105512,6 +120249,12 @@ ornithine-delta-aminotransferase deficiency gyrate atrophy of choroid and retina + + + + GACR + + @@ -105574,6 +120317,12 @@ primrose syndrome primrose syndrome + + + + PRIMS + + @@ -105593,6 +120342,12 @@ This term has one or more labels that end with ', INCLUDED'. hypertrophic osteoarthropathy, primary, autosomal recessive, 1 + + + + PHOAR1 + + @@ -105653,6 +120408,12 @@ osteogenesis imperfecta, type 3 osteogenesis imperfecta, type 3 + + + + OI3 + + @@ -105677,6 +120438,12 @@ osteogenesis imperfecta, type 9 osteogenesis imperfecta, type 9 + + + + OI9 + + @@ -105690,6 +120457,12 @@ kuskokwim disease bruck syndrome 1 + + + + BRKS1 + + @@ -105737,6 +120510,12 @@ torg-winchester syndrome, formerly multicentric osteolysis, nodulosis, and arthropathy + + + + MONA + + @@ -105789,6 +120568,12 @@ osteomyelitis, chronic multifocal chronic recurrent multifocal osteomyelitis 3 + + + + CRMO3 + + @@ -105824,6 +120609,12 @@ osteopetrosis, infantile malignant 1 osteopetrosis, autosomal recessive 1 + + + + OPTB1 + + @@ -105849,6 +120640,12 @@ osteopetrosis, osteoclast-poor osteopetrosis, autosomal recessive 2 + + + + OPTB2 + + @@ -105873,6 +120670,12 @@ osteopetrosis, infantile malignant 3 osteopetrosis, autosomal recessive 5 + + + + OPTB5 + + @@ -105900,6 +120703,12 @@ osteopetrosis, autosomal recessive 3 osteopetrosis, autosomal recessive 3 + + + + OPTB3 + + @@ -105922,6 +120731,12 @@ osteoporosis-pseudoglioma syndrome osteoporosis-pseudoglioma syndrome + + + + OPPG + + @@ -105946,6 +120761,12 @@ raine syndrome raine syndrome + + + + RNS + + @@ -105984,6 +120805,12 @@ serine:pyruvate aminotransferase deficiency hyperoxaluria, primary, type 1 + + + + HP1 + + @@ -106011,6 +120838,12 @@ oxalosis 2 hyperoxaluria, primary, type 2 + + + + HP2 + + @@ -106034,6 +120867,12 @@ oxoprolinuria due to 5-oxoprolinase deficiency 5-oxoprolinase deficiency + + + + OPLAHD + + @@ -106098,6 +120937,12 @@ parkinsonian-pyramidal syndrome parkinson disease 15, autosomal recessive early-onset + + + + PARK15 + + @@ -106134,6 +120979,12 @@ pancreatic hypoplasia, congenital pancreatic agenesis 1 + + + + PAGEN1 + + @@ -106149,6 +121000,12 @@ shwachman-diamond syndrome 1 shwachman-diamond syndrome 1 + + + + SDS1 + + @@ -106169,6 +121026,12 @@ subacute sclerosing panencephalitis subacute sclerosing panencephalitis + + + + SSPE + + @@ -106200,6 +121063,12 @@ This term has one or more labels that end with ', INCLUDED'. papilloma of choroid plexus + + + + CPP + + @@ -106254,6 +121123,12 @@ progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy peho syndrome + + + + PEHO + + @@ -106266,6 +121141,12 @@ pelger-huet-like anomaly and episodic fever with abdominal pain immunodeficiency 108 with autoinflammation + + + + IMD108 + + @@ -106289,6 +121170,12 @@ leukodystrophy, hypomyelinating, 3 leukodystrophy, hypomyelinating, 3 + + + + HLD3 + + @@ -106346,6 +121233,12 @@ xylitol dehydrogenase deficiency pentosuria + + + + PNTSU + + @@ -106378,6 +121271,12 @@ periodic fever, dutch type hyper-igd syndrome + + + + HIDS + + @@ -106429,6 +121328,12 @@ pernicious anemia, congenital, due to defect of intrinsic factor intrinsic factor deficiency + + + + IFD + + @@ -106445,6 +121350,12 @@ pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria imerslund-grasbeck syndrome 1 + + + + IGS1 + + @@ -106479,6 +121390,12 @@ presentey anomaly eosinophil peroxidase deficiency + + + + EPXD + + @@ -106525,6 +121442,12 @@ peters-plus syndrome peters-plus syndrome + + + + PTRPLS + + @@ -106563,6 +121486,12 @@ pseudohermaphroditism, male internal persistent mullerian duct syndrome, types 1 and 2 + + + + PMDS + + @@ -106610,6 +121539,12 @@ This term has one or more labels that end with ', INCLUDED'. phenylketonuria + + + + PKU + + @@ -106637,6 +121572,12 @@ quinoid dihydropteridine reductase deficiency hyperphenylalaninemia, bh4-deficient, c + + + + HPABH4C + + @@ -106664,6 +121605,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperphenylalaninemia, bh4-deficient, a + + + + HPABH4A + + @@ -106676,6 +121623,12 @@ phosphoenolpyruvate carboxykinase deficiency, mitochondrial phosphoenolpyruvate carboxykinase deficiency, mitochondrial + + + + PCKDM + + @@ -106713,6 +121666,12 @@ phosphoglycerate mutase, muscle, deficiency of glycogen storage disease 10 + + + + GSD10 + + @@ -106737,6 +121696,12 @@ phosphoenolpyruvate carboxykinase deficiency, cytosolic phosphoenolpyruvate carboxykinase deficiency, cytosolic + + + + PCKDC + + @@ -106775,6 +121740,12 @@ phosphorylase kinase deficiency of liver and muscle, autosomal recessive glycogen storage disease ixb + + + + GSD9B + + @@ -106793,6 +121764,12 @@ pierre robin syndrome pierre robin syndrome + + + + PRBNS + + @@ -106827,6 +121804,12 @@ pili torti and developmental delay abnormal hair, joint laxity, and developmental delay + + + + HJDD + + @@ -106839,6 +121822,12 @@ ptd bjornstad syndrome + + + + BJS + + @@ -106888,6 +121877,12 @@ total colorblindness with myopia achromatopsia 3 + + + + ACHM3 + + @@ -106914,6 +121909,12 @@ sexual ateleiotic dwarfism isolated growth hormone deficiency, type 1a + + + + IGHD1A + + @@ -106953,6 +121954,12 @@ pituitary hormone deficiency, combined, 2 pituitary hormone deficiency, combined, 2 + + + + CPHD2 + + @@ -106989,6 +121996,12 @@ short stature, pituitary and cerebellar defects, and small sella turcica pituitary hormone deficiency, combined, 4 + + + + CPHD4 + + @@ -107077,6 +122090,12 @@ scott syndrome scott syndrome + + + + SCTS + + @@ -107100,6 +122119,12 @@ pneumonitis, desquamative interstitial, familial interstitial pneumonitis, desquamative, familial + + + + DIP + + @@ -107139,6 +122164,12 @@ This term has one or more labels that end with ', INCLUDED'. polycystic kidney disease 4 with or without polycystic liver disease + + + + PKD4 + + @@ -107150,6 +122181,12 @@ polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia gillessen-kaesbach-nishimura syndrome + + + + GIKANIS + + @@ -107161,6 +122198,12 @@ polycythemia vera polycythemia vera + + + + PV + + @@ -107175,6 +122218,12 @@ This term has one or more labels that end with ', INCLUDED'. erythrocytosis, familial, 2 + + + + ECYT2 + + @@ -107192,6 +122241,12 @@ polydactyly, postaxial, type a5 polydactyly, postaxial, type a5 + + + + PAPA5 + + @@ -107217,6 +122272,12 @@ srps, type 2 short-rib thoracic dysplasia 6 with or without polydactyly + + + + SRTD6 + + @@ -107264,6 +122325,12 @@ polyglucosan body neuropathy, adult form polyglucosan body neuropathy, adult form + + + + APBN + + @@ -107316,6 +122383,12 @@ pterygium, popliteal, lethal type bartsocas-papas syndrome 1 + + + + BPS1 + + @@ -107341,6 +122414,12 @@ uros deficiency porphyria, congenital erythropoietic + + + + CEP + + @@ -107388,6 +122467,12 @@ potassium and magnesium depletion gitelman syndrome + + + + GTLMNS + + @@ -107443,6 +122528,12 @@ pcbd deficiency hyperphenylalaninemia, bh4-deficient, d + + + + HPABH4D + + @@ -107465,6 +122556,12 @@ wiedemann-rautenstrauch syndrome wiedemann-rautenstrauch syndrome + + + + WDRTS + + @@ -107522,6 +122619,12 @@ pseudodiastrophic dysplasia pseudodiastrophic dysplasia + + + + PDD + + @@ -107580,6 +122683,12 @@ pseudohypoaldosteronism, type ib1, autosomal recessive pseudohypoaldosteronism, type ib1, autosomal recessive + + + + PHA1B1 + + @@ -107667,6 +122776,12 @@ This term has one or more labels that end with ', INCLUDED'. pseudovaginal perineoscrotal hypospadias + + + + PPSH + + @@ -107696,6 +122811,12 @@ vitamin d-dependent rickets, type 1a vitamin d hydroxylation-deficient rickets, type 1a + + + + VDDR1A + + @@ -107710,6 +122831,12 @@ This term has one or more labels that end with ', INCLUDED'. pseudoxanthoma elasticum + + + + PXE + + @@ -107743,6 +122870,12 @@ factor 11 F11 + + + + F11 + + @@ -107759,6 +122892,12 @@ pterygium universale multiple pterygium syndrome, escobar variant + + + + EVMPS + + @@ -107786,6 +122925,12 @@ ptosis of eyelids with diastasis recti and hip dysplasia 3mc syndrome 2 + + + + 3MC2 + + @@ -107808,6 +122953,12 @@ pulmonary alveolar microlithiasis pulmonary alveolar microlithiasis + + + + PULAM + + @@ -107834,6 +122985,12 @@ surfactant metabolism dysfunction, pulmonary, 1 surfactant metabolism dysfunction, pulmonary, 1 + + + + SMDP1 + + @@ -107873,6 +123030,12 @@ pulmonary cystic lymphangiectasis lymphangiectasia, pulmonary, congenital + + + + CPL + + @@ -107896,6 +123059,12 @@ alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies alveolar capillary dysplasia with misalignment of pulmonary veins + + + + ACDMPV + + @@ -107920,6 +123089,12 @@ pulmonary hypertension, primary, 5, autosomal recessive pulmonary hypertension, primary, 5 + + + + PPH5 + + @@ -107942,6 +123117,12 @@ pvod pulmonary venoocclusive disease 1, autosomal dominant + + + + PVOD1 + + @@ -108025,6 +123206,12 @@ pyle disease pyle disease + + + + PYL + + @@ -108060,6 +123247,12 @@ pyridoxine-dependent epilepsy epilepsy, early-onset, 4, vitamin b6-dependent + + + + EPEO4 + + @@ -108098,6 +123291,12 @@ pyroglutamic aciduria glutathione synthetase deficiency + + + + GSSD + + @@ -108108,6 +123307,12 @@ pyropoikilocytosis, hereditary pyropoikilocytosis, hereditary + + + + HPP + + @@ -108188,6 +123393,12 @@ rambam-hasharon syndrome congenital disorder of glycosylation, type iic + + + + CDG2C + + @@ -108224,6 +123435,12 @@ This term has one or more labels that end with ', INCLUDED'. skin/hair/eye pigmentation, variation in, 2 + + + + SHEP2 + + @@ -108279,6 +123496,12 @@ peroxisome biogenesis disorder 3b peroxisome biogenesis disorder 3b + + + + PBD3B + + @@ -108295,6 +123518,12 @@ This term has one or more labels that end with ', INCLUDED'. inflammatory bowel disease (crohn disease) 1 + + + + IBD1 + + @@ -108320,6 +123549,12 @@ senior-loken syndrome 1 senior-loken syndrome 1 + + + + SLSN1 + + @@ -108344,6 +123579,12 @@ short-rib thoracic dysplasia 9 with or without polydactyly short-rib thoracic dysplasia 9 with or without polydactyly + + + + SRTD9 + + @@ -108368,6 +123609,12 @@ renal hamartomas, nephroblastomatosis, and fetal gigantism perlman syndrome + + + + PRLMNS + + @@ -108381,6 +123628,12 @@ renal-hepatic-pancreatic dysplasia with dandy-walker cyst meckel syndrome, type 7 + + + + MKS7 + + @@ -108418,6 +123671,12 @@ rta with progressive nerve deafness renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss + + + + DRTA2 + + @@ -108452,6 +123711,12 @@ This term has one or more labels that end with ', INCLUDED'. renal tubular dysgenesis + + + + RTD + + @@ -108523,6 +123788,12 @@ reticulosis, familial histiocytic hemophagocytic lymphohistiocytosis, familial, 1 + + + + FHL1 + + @@ -108554,6 +123825,12 @@ retinal detachment and occipital encephalocele knobloch syndrome 1 + + + + KNO1 + + @@ -108592,6 +123869,12 @@ retinitis pigmentosa retinitis pigmentosa + + + + RP + + @@ -108685,6 +123968,12 @@ This term has one or more labels that end with ', INCLUDED'. enhanced s-cone syndrome + + + + ESCS + + @@ -108712,6 +124001,12 @@ This term has one or more labels that end with ', INCLUDED'. rh-null, regulator type + + + + RHNR + + @@ -108747,6 +124042,12 @@ rhabdomyosarcoma, embryonal, 1 rhabdomyosarcoma, embryonal, 1 + + + + RMSE1 + + @@ -108770,6 +124071,12 @@ rhabdomyosarcoma, alveolar rhabdomyosarcoma 2 + + + + RMS2 + + @@ -108805,6 +124112,12 @@ sc pseudothalidomide syndrome roberts-sc phocomelia syndrome + + + + RBS + + @@ -108843,6 +124156,12 @@ This term has one or more labels that end with ', INCLUDED'. robinow syndrome, autosomal recessive 1 + + + + RRS1 + + @@ -108853,6 +124172,12 @@ rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction + + + + RCDFRD + + @@ -108875,6 +124200,12 @@ rothmund-thomson syndrome, type 2 rothmund-thomson syndrome, type 2 + + + + RTS2 + + @@ -108979,6 +124310,12 @@ sardh deficiency sarcosinemia + + + + SARCOS + + @@ -109044,6 +124381,12 @@ schmidt syndrome autoimmune polyendocrine syndrome, type 2 + + + + APS2 + + @@ -109067,6 +124410,12 @@ schneckenbecken dysplasia schneckenbecken dysplasia + + + + SHNKND + + @@ -109077,6 +124426,12 @@ craniometadiaphyseal dysplasia craniometadiaphyseal dysplasia + + + + CRMDD + + @@ -109102,6 +124457,12 @@ sclerocornea with other ocular anomalies anterior segment dysgenesis 7 + + + + ASGD7 + + @@ -109115,6 +124476,12 @@ sost sclerosteosis 1 + + + + SOST1 + + @@ -109163,6 +124530,12 @@ seip syndrome lipodystrophy, congenital generalized, type 2 + + + + CGL2 + + @@ -109196,6 +124569,12 @@ selective t-cell defect immunodeficiency 48 + + + + IMD48 + + @@ -109211,6 +124590,12 @@ srps 4 short-rib thoracic dysplasia 12 + + + + SRTD12 + + @@ -109221,6 +124606,12 @@ short stature-obesity syndrome short stature-obesity syndrome + + + + SSOS + + @@ -109245,6 +124636,12 @@ sialuria, infantile form infantile sialic acid storage disease + + + + ISSD + + @@ -109297,6 +124694,12 @@ situs inversus viscerum, formerly heterotaxy, visceral, 5, autosomal + + + + HTX5 + + @@ -109333,6 +124736,12 @@ sjogren-larsson syndrome sjogren-larsson syndrome + + + + SLS + + @@ -109376,6 +124785,12 @@ skin peeling, familial continuous generalized peeling skin syndrome 1 + + + + PSS1 + + @@ -109413,6 +124828,12 @@ smith-lemli-opitz syndrome smith-lemli-opitz syndrome + + + + SLOS + + @@ -109438,6 +124859,12 @@ sodium diarrhea, congenital diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies + + + + DIAR3 + + @@ -109475,6 +124902,12 @@ This term has one or more labels that end with ', INCLUDED'. insulin-like growth factor i, resistance to + + + + IGF1RES + + @@ -109521,6 +124954,12 @@ spastic ataxia, charlevoix-saguenay type spastic ataxia, charlevoix-saguenay type + + + + SACS + + @@ -109555,6 +124994,12 @@ spastic paraplegia with amyotrophy of hands and feet spastic paraplegia 17, autosomal dominant + + + + SPG17 + + @@ -109580,6 +125025,12 @@ spastic paraplegia and retinal degeneration spastic paraplegia 15, autosomal recessive + + + + SPG15 + + @@ -109605,6 +125056,12 @@ spastic paraplegia with pigmentary abnormalities spastic paraplegia 23, autosomal recessive + + + + SPG23 + + @@ -109616,6 +125073,12 @@ spastic paraplegia 5a, autosomal recessive spastic paraplegia 5a, autosomal recessive + + + + SPG5A + + @@ -109672,6 +125135,12 @@ This term has one or more labels that end with ', INCLUDED'. spermatogenic failure 4 + + + + SPGF4 + + @@ -109683,6 +125152,12 @@ spherocytosis, type 3 spherocytosis, type 3 + + + + SPH3 + + @@ -109732,6 +125207,12 @@ spinal muscular atrophy, type 4 spinal muscular atrophy, type 4 + + + + SMA4 + + @@ -109776,6 +125257,12 @@ spinocerebellar ataxia, infantile-onset mitochondrial DNA depletion syndrome 7 (hepatocerebral type) + + + + MTDPS7 + + @@ -109800,6 +125287,12 @@ spinocerebellar ataxia, autosomal recessive 3 spinocerebellar ataxia, autosomal recessive 3 + + + + SCAR3 + + @@ -109840,6 +125333,12 @@ spinocerebellar degeneration with slow eye movements spinocerebellar degeneration with slow eye movements + + + + SDSEM + + @@ -109865,6 +125364,12 @@ splenic hypoplasia asplenia, isolated congenital + + + + ICAS + + @@ -109899,6 +125404,12 @@ spondyloepimetaphyseal dysplasia, sponastrime type spondyloepimetaphyseal dysplasia, sponastrime type + + + + SEMDSP + + @@ -109922,6 +125433,12 @@ spondylodysplasia with pure brachyolmia brachyolmia type 1, hobaek type + + + + BCYM1A + + @@ -109964,6 +125481,12 @@ spondyloepiphyseal dysplasia tarda, toledo type brachyolmia type 1, toledo type + + + + BCYM1B + + @@ -109976,6 +125499,12 @@ spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures + + + + SEMDJL1 + + @@ -109986,6 +125515,12 @@ spondyloepimetaphyseal dysplasia, irapa type spondyloepimetaphyseal dysplasia, irapa type + + + + SEMDIT + + @@ -110065,6 +125600,12 @@ striatonigral degeneration, infantile striatonigral degeneration, infantile + + + + SNDI + + @@ -110110,6 +125651,12 @@ succinic semialdehyde dehydrogenase deficiency succinic semialdehyde dehydrogenase deficiency + + + + SSADHD + + @@ -110174,6 +125721,12 @@ sulfatidosis, juvenile, austin type multiple sulfatase deficiency + + + + MSD + + @@ -110197,6 +125750,12 @@ sulfocysteinuria sulfite oxidase deficiency, isolated + + + + ISOD + + @@ -110223,6 +125782,12 @@ susceptibility to lysis by alloreactive natural killer cells susceptibility to lysis by alloreactive natural killer cells + + + + EC1 + + @@ -110249,6 +125814,12 @@ sohar-crisponi syndrome crisponi/cold-induced sweating syndrome 1 + + + + CISS1 + + @@ -110273,6 +125844,12 @@ syndactyly, type i, with microcephaly and mental retardation filippi syndrome + + + + FLPIS + + @@ -110296,6 +125873,12 @@ vertebral fusion with carpal coalition spondylocarpotarsal synostosis syndrome + + + + SCT + + @@ -110405,6 +125988,12 @@ This term has one or more labels that end with ', INCLUDED'. tay-sachs disease + + + + TSD + + @@ -110416,6 +126005,12 @@ teebi-shaltout syndrome teebi-shaltout syndrome + + + + TBSH + + @@ -110477,6 +126072,12 @@ xy gonadal agenesis/dysgenesis syndrome 46,xy sex reversal 11 + + + + SRXY11 + + @@ -110495,6 +126096,12 @@ This term has one or more labels that end with ', INCLUDED'. testicular germ cell tumor + + + + TGCT + + @@ -110537,6 +126144,12 @@ tetraamelia syndrome, autosomal recessive tetraamelia syndrome 1 + + + + TETAMS1 + + @@ -110623,6 +126236,12 @@ This term has one or more labels that end with ', INCLUDED'. three m syndrome 1 + + + + 3M1 + + @@ -110652,6 +126271,12 @@ thrombasthenia of glanzmann and naegeli glanzmann thrombasthenia 1 + + + + GT1 + + @@ -110676,6 +126301,12 @@ thrombocytopenia, autosomal recessive, 3 thrombocytopenia 3 + + + + THC3 + + @@ -110700,6 +126331,12 @@ thrombocytopenia-absent radius syndrome thrombocytopenia-absent radius syndrome + + + + TAR + + @@ -110731,6 +126368,12 @@ upshaw-schulman syndrome thrombotic thrombocytopenic purpura, hereditary + + + + TTP + + @@ -110757,6 +126400,12 @@ TBXAS1 + + + + TBXAS1 + + @@ -110846,6 +126495,12 @@ This term has one or more labels that end with ', INCLUDED'. dihydropyrimidine dehydrogenase deficiency + + + + DPYDD + + @@ -110859,6 +126514,12 @@ thyroid hormone unresponsiveness thyroid hormone resistance, generalized, autosomal recessive + + + + GRTHR + + @@ -110885,6 +126546,12 @@ thyroid hormonogenesis, genetic defect in, 1 thyroid dyshormonogenesis 1 + + + + TDH1 + + @@ -110912,6 +126579,12 @@ thyroid peroxidase deficiency thyroid dyshormonogenesis 2a + + + + TDH2A + + @@ -110928,6 +126601,12 @@ thyroid hormonogenesis, genetic defect in, 2b pendred syndrome + + + + PDS + + @@ -110941,6 +126620,12 @@ thyroid hormonogenesis, genetic defect in, 3 thyroid dyshormonogenesis 3 + + + + TDH3 + + @@ -110968,6 +126653,12 @@ thyroid hormonogenesis, genetic defect in, 4 thyroid dyshormonogenesis 4 + + + + TDH4 + + @@ -110993,6 +126684,12 @@ thyroid hormonogenesis, genetic defect in, 5 thyroid dyshormonogenesis 5 + + + + TDH5 + + @@ -111013,6 +126710,12 @@ This term has one or more labels that end with ', INCLUDED'. graves disease + + + + GRD + + @@ -111042,6 +126745,12 @@ This term has one or more labels that end with ', INCLUDED'. hypothyroidism, congenital, nongoitrous, 4 + + + + CHNG4 + + @@ -111079,6 +126788,12 @@ tsh resistance hypothyroidism, congenital, nongoitrous, 1 + + + + CHNG1 + + @@ -111094,6 +126809,12 @@ tight skin contracture syndrome, lethal restrictive dermopathy 1 + + + + RSDM1 + + @@ -111171,6 +126892,12 @@ transcobalamin 2 deficiency transcobalamin 2 deficiency + + + + TCN2D + + @@ -111205,6 +126932,12 @@ squamous cell carcinoma, head and neck squamous cell carcinoma, head and neck + + + + HNSCC + + @@ -111229,6 +126962,12 @@ TREH + + + + TREH + + @@ -111250,6 +126989,12 @@ trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina oliver-mcfarlane syndrome + + + + OMCS + + @@ -111324,6 +127069,12 @@ triglyceride storage disease with impaired long-chain fatty acid oxidation chanarin-dorfman syndrome + + + + CDS + + @@ -111359,6 +127110,12 @@ troyer syndrome spastic paraplegia 20, autosomal recessive + + + + SPG20 + + @@ -111386,6 +127143,12 @@ PRSS1 + + + + PRSS1 + + @@ -111422,15 +127185,19 @@ turcot syndrome mismatch repair cancer syndrome 1 + + + + MMRCS1 + + - ovarian response to fsh stimulation twinning, dizygotic - This term has one or more labels that end with ', INCLUDED'. twinning, dizygotic @@ -111481,6 +127248,12 @@ tyrosinosis, oculocutaneous type tyrosinemia, type 2 + + + + TYRSN2 + + @@ -111507,6 +127280,12 @@ tyrosinemia, type 1 tyrosinemia, type 1 + + + + TYRSN1 + + @@ -111520,6 +127299,12 @@ tyrosinemia, type 3 tyrosinemia, type 3 + + + + TYRSN3 + + @@ -111592,6 +127377,12 @@ urocanase deficiency urocanase deficiency + + + + UROCD + + @@ -111609,6 +127400,12 @@ This term has one or more labels that end with ', INCLUDED'. usher syndrome, type 1 + + + + USH1 + + @@ -111620,6 +127417,12 @@ usher syndrome, type 2a usher syndrome, type 2a + + + + USH2A + + @@ -111632,6 +127435,12 @@ usher syndrome, type 3a usher syndrome, type 3a + + + + USH3A + + @@ -111667,6 +127476,12 @@ myosin, unconventional, family vii, member a MYO7A + + + + MYO7A + + @@ -111679,6 +127494,12 @@ usher syndrome, type i, acadian variety usher syndrome, type 1c + + + + USH1C + + @@ -111720,6 +127541,12 @@ This term has one or more labels that end with ', INCLUDED'. mayer-rokitansky-kuster-hauser syndrome + + + + MRKH + + @@ -111756,6 +127583,12 @@ varadi-papp syndrome orofaciodigital syndrome 6 + + + + OFD6 + + @@ -111779,6 +127612,12 @@ This term has one or more labels that end with ', INCLUDED'. vas deferens, congenital bilateral aplasia of + + + + CBAVD + + @@ -111817,6 +127656,12 @@ vertebral anomalies spondylocostal dysostosis 1, autosomal recessive + + + + SCDO1 + + @@ -111866,6 +127711,12 @@ vitamin b12 storage disease methylmalonic aciduria and homocystinuria, cblf type + + + + MAHCF + + @@ -111906,6 +127757,12 @@ This term has one or more labels that end with ', INCLUDED'. methylmalonic aciduria and homocystinuria, cblc type + + + + MAHCC + + @@ -111923,6 +127780,12 @@ This term has one or more labels that end with ', INCLUDED'. methylmalonic aciduria and homocystinuria, cbld type + + + + MAHCD + + @@ -111962,6 +127825,12 @@ vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol vitamin d-dependent rickets, type 2a + + + + VDDR2A + + @@ -111980,6 +127849,12 @@ vkcfd vitamin k-dependent clotting factors, combined deficiency of, 1 + + + + VKCFD1 + + @@ -112005,6 +127880,12 @@ vitamin e deficiency, familial isolated ataxia with vitamin e deficiency + + + + AVED + + @@ -112029,6 +127910,12 @@ volendam neurodegenerative disease pontocerebellar hypoplasia, type 2a + + + + PCH2A + + @@ -112040,6 +127927,12 @@ vwd, type 3 von willebrand disease, type 3 + + + + VWD3 + + @@ -112055,6 +127948,12 @@ ws4 waardenburg syndrome, type 4a + + + + WS4A + + @@ -112078,6 +127977,12 @@ weaver-smith syndrome weaver syndrome + + + + WVS + + @@ -112104,6 +128009,12 @@ weill-marchesani syndrome, autosomal recessive weill-marchesani syndrome 1 + + + + WMS1 + + @@ -112135,6 +128046,12 @@ werner syndrome werner syndrome + + + + WRN + + @@ -112188,6 +128105,12 @@ wilson disease wilson disease + + + + WND + + @@ -112210,6 +128133,12 @@ winchester syndrome winchester syndrome + + + + WNCHRS + + @@ -112244,6 +128173,12 @@ lysosomal acid lipase deficiency, partial cholesteryl ester storage disease + + + + CESD + + @@ -112267,6 +128202,12 @@ This term has one or more labels that end with ', INCLUDED'. hypotrichosis 8 + + + + HYPT8 + + @@ -112296,6 +128237,12 @@ wrinkly skin syndrome wrinkly skin syndrome + + + + WSS + + @@ -112322,6 +128269,12 @@ xdh deficiency xanthinuria, type 1 + + + + XAN1 + + @@ -112364,6 +128317,12 @@ xp, group a xeroderma pigmentosum, complementation group a + + + + XPA + + @@ -112389,6 +128348,12 @@ xpcc xeroderma pigmentosum, complementation group c + + + + XPC + + @@ -112403,6 +128368,12 @@ xp4 xeroderma pigmentosum viii, formerly xeroderma pigmentosum, complementation group d + + + + XPD + + @@ -112451,6 +128422,12 @@ xeroderma pigmentosum, variant type xeroderma pigmentosum, variant type + + + + XPV + + @@ -112465,6 +128442,12 @@ This term has one or more labels that end with ', INCLUDED'. xeroderma pigmentosum, complementation group f + + + + XPF + + @@ -112479,6 +128462,12 @@ This term has one or more labels that end with ', INCLUDED'. xeroderma pigmentosum, complementation group g + + + + XPG + + @@ -112514,6 +128503,12 @@ chromosome 17q24 duplication syndrome 46,xx sex reversal 2 + + + + SRXX2 + + @@ -112561,6 +128556,12 @@ zunich neuroectodermal syndrome coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome + + + + CHIME + + @@ -112592,6 +128593,12 @@ telecanthus-hypospadias syndrome opitz gbbb syndrome + + + + GBBB + + @@ -112658,6 +128665,12 @@ methyl-cpg-binding protein 2 MECP2 + + + + MECP2 + + @@ -112700,6 +128713,12 @@ clc5 CLCN5 + + + + CLCN5 + + @@ -112714,6 +128733,12 @@ urolithiasis, hypercalciuric, X-linked dent disease 1 + + + + DENT1 + + @@ -112748,6 +128773,12 @@ atpase, cu(2+)-transporting, alpha polypeptide ATP7A + + + + ATP7A + + @@ -112779,6 +128810,12 @@ te2 NAA10 + + + + NAA10 + + @@ -112803,6 +128840,12 @@ ATP2B3 + + + + ATP2B3 + + @@ -112877,6 +128920,12 @@ fln FLNA + + + + FLNA + + @@ -112890,6 +128939,12 @@ dosage-sensitive sex reversal 46,xy sex reversal 2 + + + + SRXY2 + + @@ -112915,6 +128970,12 @@ HCFC1 + + + + HCFC1 + + @@ -112947,6 +129008,12 @@ retinitis pigmentosa 3 retinitis pigmentosa 3 + + + + RP3 + + @@ -112965,6 +129032,12 @@ deafness, X-linked 4, congenital sensorineural deafness, X-linked 3 + + + + DFNX3 + + @@ -113002,6 +129075,12 @@ helicase 2, X-linked ATRX + + + + ATRX + + @@ -113029,6 +129108,12 @@ EFNB1 + + + + EFNB1 + + @@ -113053,6 +129138,12 @@ SLC6A8 + + + + SLC6A8 + + @@ -113082,6 +129173,12 @@ oci-5, rat, homolog of GPC3 + + + + GPC3 + + @@ -113106,6 +129203,12 @@ POU3F4 + + + + POU3F4 + + @@ -113139,6 +129242,12 @@ structural maintenance of chromosomes 1a SMC1A + + + + SMC1A + + @@ -113150,6 +129259,12 @@ alopecia, congenital alopecia, congenital + + + + ALPC + + @@ -113186,6 +129301,12 @@ mental retardation, X-linked 23 intellectual developmental disorder, X-linked 23 + + + + XLID23 + + @@ -113204,6 +129325,12 @@ mental retardation, X-linked 20 intellectual developmental disorder, X-linked 20 + + + + XLID20 + + @@ -113211,7 +129338,7 @@ congenital short bowel syndrome, X-linked - ciip, X-linked + CIIPX congenital idiopathic intestinal pseudoobstruction intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement @@ -113219,6 +129346,12 @@ This term has one or more labels that end with ', INCLUDED'. intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked + + + + CIIPX + + @@ -113237,6 +129370,12 @@ This term has one or more labels that end with ', INCLUDED'. periventricular nodular heterotopia 1 + + + + PVNH1 + + @@ -113262,6 +129401,12 @@ mental retardation, x-linked, with spasticity intellectual developmental disorder, x-linked, syndromic 13 + + + + MRXS13 + + @@ -113285,6 +129430,12 @@ HCCS + + + + HCCS + + @@ -113326,6 +129477,12 @@ LAGE3 + + + + LAGE3 + + @@ -113351,6 +129508,12 @@ ZMYM3 + + + + ZMYM3 + + @@ -113369,6 +129532,12 @@ mental retardation, X-linked 14 intellectual developmental disorder, X-linked 14 + + + + XLID14 + + @@ -113402,6 +129571,12 @@ deafness, nonsyndromic sensorineural progressive 6 deafness, X-linked 4 + + + + DFNX4 + + @@ -113420,6 +129595,12 @@ This term has one or more labels that end with ', INCLUDED'. lissencephaly, x-linked, 1 + + + + LISX1 + + @@ -113435,6 +129616,12 @@ testicular feminization syndrome androgen insensitivity syndrome + + + + AIS + + @@ -113473,6 +129660,12 @@ fibroblast growth factor homologous factor 2 FGF13 + + + + FGF13 + + @@ -113486,6 +129679,12 @@ night blindness, congenital stationary, type 2a night blindness, congenital stationary, type 2a + + + + CSNB2A + + @@ -113516,6 +129715,12 @@ ubiquitin-specific protease 9, X-linked USP9X + + + + USP9X + + @@ -113558,6 +129763,12 @@ ribosomal s6 kinase 2 RPS6KA3 + + + + RPS6KA3 + + @@ -113608,6 +129819,12 @@ NDUFA1 + + + + NDUFA1 + + @@ -113635,6 +129852,12 @@ XIAP + + + + XIAP + + @@ -113660,6 +129883,12 @@ RBM10 + + + + RBM10 + + @@ -113677,6 +129906,12 @@ social cognition cognitive function 1, social + + + + CGF1 + + @@ -113705,6 +129940,12 @@ NONO + + + + NONO + + @@ -113729,6 +129970,12 @@ cone-rod dystrophy, x-linked, 2 cone-rod dystrophy, x-linked, 2 + + + + CORDX2 + + @@ -113751,6 +129998,12 @@ x inactivation, familial skewed, 1 x inactivation, familial skewed, 1 + + + + SXI1 + + @@ -113777,6 +130030,12 @@ juberg-hellman syndrome developmental and epileptic encephalopathy 9 + + + + DEE9 + + @@ -113801,6 +130060,12 @@ SSR4 + + + + SSR4 + + @@ -113835,6 +130100,12 @@ SLC16A2 + + + + SLC16A2 + + @@ -113861,6 +130132,12 @@ TSPAN7 + + + + TSPAN7 + + @@ -113882,9 +130159,16 @@ bronze schilder disease melanodermic leukodystrophy siemerling-creutzfeldt disease + x-ald This term has one or more labels that end with ', INCLUDED'. adrenoleukodystrophy + + + + ALD + + @@ -113912,6 +130196,12 @@ GDI1 + + + + GDI1 + + @@ -113935,6 +130225,12 @@ SMS + + + + SMS + + @@ -113946,6 +130242,12 @@ spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia, X-linked + + + + SEMDX + + @@ -113972,6 +130274,12 @@ DIAPH2 + + + + DIAPH2 + + @@ -114006,6 +130314,12 @@ calcium channel, voltage-dependent, alpha-1f subunit CACNA1F + + + + CACNA1F + + @@ -114032,6 +130346,12 @@ PRICKLE3 + + + + PRICKLE3 + + @@ -114042,6 +130362,12 @@ XLRL X-linked B cell surface antigen, mouse, homolog-like 1 + + + + XLRL + + @@ -114067,6 +130393,12 @@ raynaud-claes syndrome raynaud-claes syndrome + + + + MRXSRC + + @@ -114079,6 +130411,12 @@ mental retardation, X-linked 50 intellectual developmental disorder, X-linked 50 + + + + XLID50 + + @@ -114104,6 +130442,12 @@ MAMLD1 + + + + MAMLD1 + + @@ -114127,6 +130471,12 @@ doublecortin DCX + + + + DCX + + @@ -114196,6 +130546,12 @@ nopp140-associated protein, 57-kd DKC1 + + + + DKC1 + + @@ -114220,6 +130576,12 @@ OPHN1 + + + + OPHN1 + + @@ -114245,6 +130607,12 @@ KDM6A + + + + KDM6A + + @@ -114283,6 +130651,12 @@ t-plastin PLS3 + + + + PLS3 + + @@ -114309,6 +130683,12 @@ ABCB7 + + + + ABCB7 + + @@ -114327,6 +130707,12 @@ type 1 diabetes mellitus, x-linked, susceptibility to type 1 diabetes mellitus, x-linked, susceptibility to + + + + T1DX + + @@ -114352,6 +130738,12 @@ IGSF1 + + + + IGSF1 + + @@ -114377,6 +130769,12 @@ IGBP1 + + + + IGBP1 + + @@ -114418,6 +130816,12 @@ PAK3 + + + + PAK3 + + @@ -114443,6 +130847,12 @@ mental retardation, X-linked 34 intellectual developmental disorder, X-linked 21 + + + + XLID21 + + @@ -114468,6 +130878,12 @@ XPNPEP2 + + + + XPNPEP2 + + @@ -114485,6 +130901,12 @@ prostate cancer, hereditary, X-linked 1 prostate cancer, hereditary, X-linked 1 + + + + HPCX1 + + @@ -114512,6 +130934,12 @@ mental retardation, x-linked, syndromic, borck type mehmo syndrome + + + + MEHMO + + @@ -114529,6 +130957,12 @@ retinitis pigmentosa 24 retinitis pigmentosa 24 + + + + RP24 + + @@ -114554,6 +130988,12 @@ ACSL4 + + + + ACSL4 + + @@ -114565,6 +131005,12 @@ arthrogryposis, x-linked, type v, formerly arthrogryposis, congenital, lower limb, X-linked + + + + ACLLX + + @@ -114591,6 +131037,12 @@ DDX3X + + + + DDX3X + + @@ -114615,6 +131067,12 @@ EIF2S3 + + + + EIF2S3 + + @@ -114668,6 +131126,12 @@ This term has one or more labels that end with ', INCLUDED'. FHL1 + + + + FHL1 + + @@ -114696,6 +131160,12 @@ ofcd syndrome microphthalmia, syndromic 2 + + + + MCOPS2 + + @@ -114719,6 +131189,12 @@ GPC4 + + + + GPC4 + + @@ -114761,6 +131237,12 @@ programmed cell death 8 AIFM1 + + + + AIFM1 + + @@ -114803,6 +131285,12 @@ ofd1 gene OFD1 + + + + OFD1 + + @@ -114833,6 +131321,12 @@ vertebrate lin2 homolog CASK + + + + CASK + + @@ -114849,6 +131343,12 @@ x inactivation, familial skewed, 2 x inactivation, familial skewed, 2 + + + + SXI2 + + @@ -114873,6 +131373,12 @@ ARSL + + + + ARSL + + @@ -114936,6 +131442,12 @@ trinucleotide repeat-containing gene 11 MED12 + + + + MED12 + + @@ -114962,6 +131474,12 @@ DLG3 + + + + DLG3 + + @@ -114988,6 +131506,12 @@ SSX2 + + + + SSX2 + + @@ -115015,6 +131539,12 @@ HMGB3 + + + + HMGB3 + + @@ -115057,6 +131587,12 @@ AMMECR1 + + + + AMMECR1 + + @@ -115082,6 +131618,12 @@ TBL1X + + + + TBL1X + + @@ -115109,6 +131651,12 @@ ATP6AP1 + + + + ATP6AP1 + + @@ -115141,6 +131689,12 @@ This term has one or more labels that end with ', INCLUDED'. RBMX + + + + RBMX + + @@ -115156,6 +131710,12 @@ cytomegalic adrenocortical hypoplasia adrenal hypoplasia, congenital + + + + AHC + + @@ -115180,6 +131740,12 @@ TRAPPC2 + + + + TRAPPC2 + + @@ -115204,6 +131770,12 @@ CDKL5 + + + + CDKL5 + + @@ -115228,6 +131800,12 @@ MID2 + + + + MID2 + + @@ -115257,6 +131835,12 @@ emopamil-binding protein EBP + + + + EBP + + @@ -115283,6 +131867,12 @@ IL1RAPL1 + + + + IL1RAPL1 + + @@ -115293,6 +131883,12 @@ simpson-golabi-behmel syndrome, type 2 simpson-golabi-behmel syndrome, type 2 + + + + SGBS2 + + @@ -115317,6 +131913,12 @@ mental retardation, X-linked 58 intellectual developmental disorder, X-linked 58 + + + + XLID58 + + @@ -115333,6 +131935,12 @@ episodic muscle weakness, X-linked episodic muscle weakness, X-linked + + + + EMWX + + @@ -115348,6 +131956,12 @@ This term has one or more labels that end with ', INCLUDED'. lissencephaly, x-linked, 2 + + + + LISX2 + + @@ -115377,6 +131991,12 @@ mental retardation, x-linked, syndromic 7 intellectual developmental disorder, x-linked, syndromic 7 + + + + MRXS7 + + @@ -115440,6 +132060,12 @@ small muscle protein, X-linked SMPX + + + + SMPX + + @@ -115456,6 +132082,12 @@ testicular germ cell tumor 1 testicular germ cell tumor 1 + + + + TGCT1 + + @@ -115480,6 +132112,12 @@ SLC9A6 + + + + SLC9A6 + + @@ -115492,6 +132130,12 @@ spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy + + + + SEMDHL + + @@ -115527,6 +132171,12 @@ TCEAL1 + + + + TCEAL1 + + @@ -115542,6 +132192,12 @@ shashi X-linked mental retardation syndrome intellectual developmental disorder, x-linked, syndromic, shashi type + + + + MRXSSH + + @@ -115577,6 +132233,12 @@ mental retardation, x-linked, syndromic, christianson type intellectual developmental disorder, x-linked, syndromic, christianson type + + + + MRXSCH + + @@ -115591,6 +132253,12 @@ terminal osseous dysplasia and pigmentary defects terminal osseous dysplasia + + + + TOD + + @@ -115631,6 +132299,12 @@ growth/differentiation factor 9b BMP15 + + + + BMP15 + + @@ -115675,6 +132349,12 @@ nf-kappa-b essential modulator IKBKG + + + + IKBKG + + @@ -115717,6 +132397,12 @@ OGT + + + + OGT + + @@ -115748,6 +132434,12 @@ HSD17B10 + + + + HSD17B10 + + @@ -115814,6 +132506,12 @@ mental retardation, x-linked, with recurrent respiratory infections intellectual developmental disorder, x-linked, syndromic, lubs type + + + + MRXSL + + @@ -115838,6 +132536,12 @@ intellectual developmental disorder, x-linked, syndromic, armfield type intellectual developmental disorder, x-linked, syndromic, armfield type + + + + MRXSA + + @@ -115857,6 +132561,12 @@ mental retardation, x-linked, syndromic, abidi type intellectual developmental disorder, x-linked, syndromic, abidi type + + + + MRXSAB + + @@ -115883,6 +132593,12 @@ siderius-hamel syndrome intellectual developmental disorder, x-linked, syndromic, siderius type + + + + MRXSSD + + @@ -115908,6 +132624,12 @@ UBQLN2 + + + + UBQLN2 + + @@ -115938,6 +132660,12 @@ zinc finger protein of cerebellum 3 ZIC3 + + + + ZIC3 + + @@ -115955,6 +132683,12 @@ spastic paraplegia 16, X-linked spastic paraplegia 16, X-linked + + + + SPG16 + + @@ -115987,6 +132721,12 @@ HDAC8 + + + + HDAC8 + + @@ -116008,6 +132748,12 @@ mental retardation, X-linked 72 intellectual developmental disorder, X-linked 72 + + + + XLID72 + + @@ -116032,6 +132778,12 @@ HDAC6 + + + + HDAC6 + + @@ -116049,6 +132801,12 @@ goiter, multinodular 2 goiter, multinodular 2 + + + + MNG2 + + @@ -116086,6 +132844,12 @@ nad(p)h steroid dehydrogenase-like protein NSDHL + + + + NSDHL + + @@ -116109,6 +132873,12 @@ NYX + + + + NYX + + @@ -116130,6 +132900,12 @@ uruguay faciocardiomusculoskeletal syndrome uruguay faciocardiomusculoskeletal syndrome + + + + FCMSU + + @@ -116154,6 +132930,12 @@ hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia ectodermal dysplasia and immunodeficiency 1 + + + + EDAID1 + + @@ -116179,6 +132961,12 @@ FOXP3 + + + + FOXP3 + + @@ -116229,6 +133017,12 @@ site-2 protease MBTPS2 + + + + MBTPS2 + + @@ -116255,6 +133049,12 @@ UPF3B + + + + UPF3B + + @@ -116267,6 +133067,12 @@ xln neutropenia, severe congenital, X-linked + + + + SCNX + + @@ -116297,6 +133103,12 @@ bruton agammaglobulinemia tyrosine kinase BTK + + + + BTK + + @@ -116330,6 +133142,12 @@ CUL4B + + + + CUL4B + + @@ -116347,6 +133165,12 @@ obesity, susceptibility to body mass index quantitative trait locus 11 + + + + BMIQ11 + + @@ -116376,6 +133200,12 @@ t-box transcription factor 22 TBX22 + + + + TBX22 + + @@ -116399,6 +133229,12 @@ USP26 + + + + USP26 + + @@ -116425,6 +133261,12 @@ xla2 immunodeficiency 61 + + + + IMD61 + + @@ -116448,6 +133290,12 @@ TEX11 + + + + TEX11 + + @@ -116459,6 +133307,12 @@ fg syndrome 2 fg syndrome 2 + + + + FGS2 + + @@ -116476,6 +133330,12 @@ This term has one or more labels that end with ', INCLUDED'. lesch-nyhan syndrome + + + + LNS + + @@ -116491,6 +133351,12 @@ kelley-seegmiller syndrome hyperuricemia, hprt-related + + + + HRH + + @@ -116509,6 +133375,12 @@ mental retardation, X-linked 53 intellectual developmental disorder, X-linked 53 + + + + XLID53 + + @@ -116541,6 +133413,12 @@ NLGN3 + + + + NLGN3 + + @@ -116554,6 +133432,12 @@ ito hypomelanosis hypomelanosis of ito + + + + HMI + + @@ -116572,6 +133456,12 @@ microphthalmia/coloboma 1 microphthalmia/coloboma 1 + + + + MCOPCB1 + + @@ -116589,6 +133479,12 @@ ventroptin CHRDL1 + + + + CHRDL1 + + @@ -116634,6 +133530,12 @@ mental retardation, x-linked, with seizures, short stature, and midface hypoplasia cerebral creatine deficiency syndrome 1 + + + + CCDS1 + + @@ -116662,6 +133564,12 @@ mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait intellectual developmental disorder, x-linked, syndromic, cabezas type + + + + MRXSC + + @@ -116680,6 +133588,12 @@ mental retardation, X-linked 73 intellectual developmental disorder, X-linked 73 + + + + XLID73 + + @@ -116707,6 +133621,12 @@ TIMM8A + + + + TIMM8A + + @@ -116732,6 +133652,12 @@ WNK3 + + + + WNK3 + + @@ -116769,6 +133695,12 @@ toll-like receptor 7 TLR7 + + + + TLR7 + + @@ -116792,6 +133724,12 @@ TLR8 + + + + TLR8 + + @@ -116802,6 +133740,12 @@ thrombocytopenia, x-linked, with or without dyserythropoietic anemia thrombocytopenia, x-linked, with or without dyserythropoietic anemia + + + + XLTDA + + @@ -116826,6 +133770,12 @@ SLC9A7 + + + + SLC9A7 + + @@ -116850,6 +133800,12 @@ GCNA + + + + GCNA + + @@ -116873,6 +133829,12 @@ atp-binding cassette, subfamily d, member 1 ABCD1 + + + + ABCD1 + + @@ -116891,6 +133853,12 @@ mental retardation, X-linked 4s intellectual developmental disorder, X-linked 42 + + + + XLID42 + + @@ -116914,6 +133882,12 @@ osteopathia striata with cranial sclerosis osteopathia striata with cranial sclerosis + + + + OSCS + + @@ -116938,6 +133912,12 @@ SH3KBP1 + + + + SH3KBP1 + + @@ -116950,6 +133930,12 @@ muscular dystrophy, pseudohypertrophic progressive, becker type muscular dystrophy, becker type + + + + BMD + + @@ -116986,6 +133972,12 @@ This term has one or more labels that end with ', INCLUDED'. DMD + + + + DMD + + @@ -117027,6 +134019,12 @@ RLIM + + + + RLIM + + @@ -117073,6 +134071,12 @@ aristaless-related homeobox, X-linked ARX + + + + ARX + + @@ -117099,6 +134103,12 @@ CFP + + + + CFP + + @@ -117123,6 +134133,12 @@ EMD + + + + EMD + + @@ -117151,6 +134167,12 @@ CD40LG + + + + CD40LG + + @@ -117176,6 +134198,12 @@ mental retardation, X-linked 68 intellectual developmental disorder, X-linked 63 + + + + XLID63 + + @@ -117195,6 +134223,12 @@ polymicrogyria, bilateral perisylvian, X-linked polymicrogyria, bilateral perisylvian, X-linked + + + + BPPX + + @@ -117232,6 +134266,12 @@ CHM + + + + CHM + + @@ -117258,6 +134298,12 @@ AMELX + + + + AMELX + + @@ -117294,6 +134340,12 @@ wasp actin nucleation promoting factor WAS + + + + WAS + + @@ -117318,6 +134370,12 @@ GPR101 + + + + GPR101 + + @@ -117343,6 +134401,12 @@ TAFAZZIN + + + + TAFAZZIN + + @@ -117367,6 +134431,12 @@ THOC2 + + + + THOC2 + + @@ -117401,6 +134471,12 @@ BCAP31 + + + + BCAP31 + + @@ -117417,6 +134493,12 @@ severe combined immunodeficiency, x-linked, t cell-negative, B cell-positive, nk cell-negative severe combined immunodeficiency, X-linked + + + + SCIDX1 + + @@ -117449,6 +134531,12 @@ This term has one or more labels that end with ', INCLUDED'. PLP1 + + + + PLP1 + + @@ -117479,6 +134567,12 @@ p17.3 NDUFB11 + + + + NDUFB11 + + @@ -117505,6 +134599,12 @@ fg syndrome 3 fg syndrome 3 + + + + FGS3 + + @@ -117537,6 +134637,12 @@ PHF6 + + + + PHF6 + + @@ -117553,6 +134659,12 @@ myotubularin MTM1 + + + + MTM1 + + @@ -117573,6 +134685,12 @@ mental retardation, X-linked 87 intellectual developmental disorder, X-linked 29 + + + + XLID29 + + @@ -117596,6 +134714,12 @@ This term has one or more labels that end with ', INCLUDED'. fg syndrome 4 + + + + FGS4 + + @@ -117609,6 +134733,12 @@ mental retardation, x-linked, with epilepsy intellectual developmental disorder, x-linked, syndromic, hedera type + + + + MRXSH + + @@ -117620,6 +134750,12 @@ retinitis pigmentosa 23 retinitis pigmentosa 23 + + + + RP23 + + @@ -117645,6 +134781,12 @@ This term has one or more labels that end with ', INCLUDED'. autism, susceptibility to, X-linked 1 + + + + AUTSX1 + + @@ -117680,6 +134822,12 @@ nlgn4x NLGN4X + + + + NLGN4X + + @@ -117698,6 +134846,12 @@ mental retardation, X-linked 2 intellectual developmental disorder, X-linked 2 + + + + XLID2 + + @@ -117724,6 +134878,12 @@ ARHGEF9 + + + + ARHGEF9 + + @@ -117770,6 +134930,12 @@ mental retardation, X-linked 81 intellectual developmental disorder, X-linked 81 + + + + XLID81 + + @@ -117789,6 +134955,12 @@ stocco dos santos X-linked mental retardation syndrome intellectual developmental disorder, x-linked, syndromic, stocco dos santos type + + + + SDSX + + @@ -117807,6 +134979,12 @@ mental retardation, X-linked 46 intellectual developmental disorder, X-linked 46 + + + + XLID46 + + @@ -117837,6 +135015,12 @@ mhbd deficiency hsd10 mitochondrial disease + + + + HSD10MD + + @@ -117864,6 +135048,12 @@ SASH3 + + + + SASH3 + + @@ -117884,6 +135074,12 @@ hemoglobin h disease, acquired alpha-thalassemia myelodysplasia syndrome + + + + ATMDS + + @@ -117929,6 +135125,12 @@ This term has one or more labels that end with ', INCLUDED'. EDA + + + + EDA + + @@ -117956,6 +135158,12 @@ FAM50A + + + + FAM50A + + @@ -117974,6 +135182,12 @@ mental retardation, X-linked 77 intellectual developmental disorder, X-linked 77 + + + + XLID77 + + @@ -117984,6 +135198,12 @@ retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness + + + + RPSRDF + + @@ -118013,6 +135233,12 @@ nhs gene NHS + + + + NHS + + @@ -118046,6 +135272,12 @@ PCDH19 + + + + PCDH19 + + @@ -118070,6 +135302,12 @@ OTC + + + + OTC + + @@ -118094,6 +135332,12 @@ PQBP1 + + + + PQBP1 + + @@ -118143,6 +135387,12 @@ MAGED2 + + + + MAGED2 + + @@ -118211,6 +135461,12 @@ nuclear receptor subfamily 0, group b, member 1 NR0B1 + + + + NR0B1 + + @@ -118235,6 +135491,12 @@ GK + + + + GK + + @@ -118259,6 +135521,12 @@ This term has one or more labels that end with ', INCLUDED'. deafness, dystonia, and cerebral hypomyelination + + + + DDCH + + @@ -118270,6 +135538,12 @@ cone-rod dystrophy, x-linked, 3 cone-rod dystrophy, x-linked, 3 + + + + CORDX3 + + @@ -118302,6 +135576,12 @@ p91-phox CYBB + + + + CYBB + + @@ -118331,6 +135611,12 @@ orofaciodigital syndrome 8 orofaciodigital syndrome 8 + + + + OFD8 + + @@ -118357,6 +135643,12 @@ BCOR + + + + BCOR + + @@ -118382,6 +135674,12 @@ mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance intellectual developmental disorder, x-linked, syndromic, billuart type + + + + MRXSBL + + @@ -118398,6 +135696,12 @@ menopause, natural, age at, quantitative trait locus 1 menopause, natural, age at, quantitative trait locus 1 + + + + MENOQ1 + + @@ -118412,6 +135716,12 @@ spinal muscular atrophy, distal, X-linked recessive neuronopathy, distal hereditary motor, X-linked + + + + HMNX + + @@ -118437,6 +135747,12 @@ SH2D1A + + + + SH2D1A + + @@ -118450,6 +135766,12 @@ epilepsy, x-linked, with reflex bathing seizures epilepsy, X-linked 1, with variable learning disabilities and behavior disorders + + + + EPILX1 + + @@ -118473,6 +135795,12 @@ This term has one or more labels that end with ', INCLUDED'. autism, susceptibility to, X-linked 2 + + + + AUTSX2 + + @@ -118484,6 +135812,12 @@ autism, susceptibility to, X-linked 3 autism, susceptibility to, X-linked 3 + + + + AUTSX3 + + @@ -118511,6 +135845,12 @@ mental retardation, X-linked 45 intellectual developmental disorder, X-linked 45 + + + + XLID45 + + @@ -118537,6 +135877,12 @@ FTSJ1 + + + + FTSJ1 + + @@ -118548,6 +135894,12 @@ nettleship-falls type ocular albinism albinism, ocular, type 1 + + + + OA1 + + @@ -118584,6 +135936,12 @@ PDHA1 + + + + PDHA1 + + @@ -118620,6 +135978,12 @@ mental retardation, X-linked 84 intellectual developmental disorder, X-linked 84 + + + + XLID84 + + @@ -118636,6 +136000,12 @@ dyslexia, susceptibility to, 9 dyslexia, susceptibility to, 9 + + + + DYX9 + + @@ -118652,6 +136022,12 @@ This term has one or more labels that end with ', INCLUDED'. ovarian dysgenesis 2 + + + + ODG2 + + @@ -118675,6 +136051,12 @@ premature ovarian failure 2a premature ovarian failure 2a + + + + POF2A + + @@ -118700,6 +136082,12 @@ fanconi pancytopenia, type 2 fanconi anemia, complementation group B + + + + FANCB + + @@ -118726,6 +136114,12 @@ FANCB + + + + FANCB + + @@ -118751,6 +136145,12 @@ ATP11C + + + + ATP11C + + @@ -118769,6 +136169,12 @@ mental retardation, X-linked 82 intellectual developmental disorder, X-linked 82 + + + + XLID82 + + @@ -118788,6 +136194,12 @@ mental retardation, x-linked, syndromic, martin-probst type martin-probst syndrome + + + + MRXSMP + + @@ -118811,6 +136223,12 @@ CLDN2 + + + + CLDN2 + + @@ -118840,6 +136258,12 @@ kinesin family member 4a KIF4A + + + + KIF4A + + @@ -118864,6 +136288,12 @@ IQSEC2 + + + + IQSEC2 + + @@ -118892,6 +136322,12 @@ triiodothyronine resistance allan-herndon-dudley syndrome + + + + AHDS + + @@ -118916,6 +136352,12 @@ NEXMIF + + + + NEXMIF + + @@ -118940,6 +136382,12 @@ WDR45 + + + + WDR45 + + @@ -118974,6 +136422,12 @@ mental retardation, x-linked, syndromic, jarid1c-related intellectual developmental disorder, x-linked, syndromic, claes-jensen type + + + + MRXSCJ + + @@ -119004,6 +136458,12 @@ ocrl1 OCRL + + + + OCRL + + @@ -119020,6 +136480,12 @@ bone mineral density quantitative trait locus 4 bone mineral density quantitative trait locus 4 + + + + BMND4 + + @@ -119059,6 +136525,12 @@ vasopressin v2 receptor AVPR2 + + + + AVPR2 + + @@ -119069,6 +136541,12 @@ nephrogenic syndrome of inappropriate antidiuresis nephrogenic syndrome of inappropriate antidiuresis + + + + NSIAD + + @@ -119092,6 +136570,12 @@ HS6ST2 + + + + HS6ST2 + + @@ -119114,6 +136598,12 @@ fyve, rhogef, and ph domain-containing protein 1 FGD1 + + + + FGD1 + + @@ -119139,6 +136629,12 @@ PHEX + + + + PHEX + + @@ -119174,6 +136670,12 @@ MID1 + + + + MID1 + + @@ -119197,6 +136699,12 @@ BRWD3 + + + + BRWD3 + + @@ -119208,6 +136716,12 @@ hypophosphatemic rickets, X-linked recessive hypophosphatemic rickets, X-linked recessive + + + + XLHRR + + @@ -119219,6 +136733,12 @@ dent disease 2 dent disease 2 + + + + DENT2 + + @@ -119256,6 +136776,12 @@ renin receptor ATP6AP2 + + + + ATP6AP2 + + @@ -119274,6 +136800,12 @@ parkinson disease, X-linked parkinson disease 12 + + + + PARK12 + + @@ -119299,6 +136831,12 @@ mental retardation, X-linked 47 intellectual developmental disorder, X-linked 30 + + + + XLID30 + + @@ -119325,6 +136863,12 @@ muscle phosphorylase kinase deficiency glycogen storage disease ixd + + + + GSD9D + + @@ -119350,6 +136894,12 @@ PHF8 + + + + PHF8 + + @@ -119377,6 +136927,12 @@ SLITRK2 + + + + SLITRK2 + + @@ -119430,6 +136986,12 @@ ADGRG2 + + + + ADGRG2 + + @@ -119448,6 +137010,12 @@ mental retardation, X-linked 91 intellectual developmental disorder, X-linked 91 + + + + XLID91 + + @@ -119480,6 +137048,12 @@ myopathy, congenital, with fiber-type disproportion, X-linked myopathy, congenital, with fiber-type disproportion, X-linked + + + + CFTDX + + @@ -119497,6 +137071,12 @@ fg syndrome 5 fg syndrome 5 + + + + FGS5 + + @@ -119507,6 +137087,12 @@ short stature, idiopathic, X-linked short stature, idiopathic, X-linked + + + + ISS + + @@ -119540,6 +137126,12 @@ MCTS1 + + + + MCTS1 + + @@ -119557,6 +137149,12 @@ nystagmus 5, congenital, X-linked nystagmus 5, congenital, X-linked + + + + NYS5 + + @@ -119570,6 +137168,12 @@ cornelia lange lange syndrome, X-linked cornelia lange lange syndrome 2 + + + + CDLS2 + + @@ -119586,6 +137190,12 @@ stature quantitative trait locus 6 stature quantitative trait locus 6 + + + + STQTL6 + + @@ -119597,6 +137207,12 @@ forsius-eriksson type ocular albinism aland island eye disease + + + + AIED + + @@ -119632,6 +137248,12 @@ POF1B + + + + POF1B + + @@ -119655,6 +137277,12 @@ premature ovarian failure 2b premature ovarian failure 2b + + + + POF2B + + @@ -119672,6 +137300,12 @@ retinitis pigmentosa 34 retinitis pigmentosa 34 + + + + RP34 + + @@ -119706,6 +137340,12 @@ hyperekplexia and epilepsy developmental and epileptic encephalopathy 8 + + + + DEE8 + + @@ -119732,6 +137372,12 @@ MSL3 + + + + MSL3 + + @@ -119757,6 +137403,12 @@ HNRNPH2 + + + + HNRNPH2 + + @@ -119788,6 +137440,12 @@ cosmc C1GALT1C1 + + + + C1GALT1C1 + + @@ -119814,6 +137472,12 @@ myopia 13, X-linked myopia 13, X-linked + + + + MYP13 + + @@ -119827,6 +137491,12 @@ deafness, X-linked 5, with peripheral neuropathy deafness, X-linked 5, with peripheral neuropathy + + + + DFNX5 + + @@ -119839,6 +137509,12 @@ This term has one or more labels that end with ', INCLUDED'. brunner syndrome + + + + BRNRS + + @@ -119861,6 +137537,12 @@ tn polyagglutination syndrome tn polyagglutination syndrome + + + + TNPS + + @@ -119871,6 +137553,12 @@ fragile 10 tremor/ataxia syndrome fragile 10 tremor/ataxia syndrome + + + + FXTAS + + @@ -119887,6 +137575,12 @@ mental retardation, x-linked, associated with marxq28 fragile 10 syndrome + + + + FXS + + @@ -119909,6 +137603,12 @@ ferm domain-containing protein 7 FRMD7 + + + + FRMD7 + + @@ -119934,6 +137634,12 @@ AP1S2 + + + + AP1S2 + + @@ -119954,6 +137660,12 @@ hypospadias 1, X-linked hypospadias 1, X-linked + + + + HYSP1 + + @@ -119978,6 +137690,12 @@ xiap deficiency lymphoproliferative syndrome, x-linked, 2 + + + + XLP2 + + @@ -119990,6 +137708,12 @@ invasive pneumococcal disease, recurrent isolated, 2, formerly immunodeficiency 33 + + + + IMD33 + + @@ -120032,6 +137756,12 @@ SRPX2 + + + + SRPX2 + + @@ -120055,6 +137785,12 @@ rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked + + + + RESDX + + @@ -120078,6 +137814,12 @@ galactosidase, alpha GLA + + + + GLA + + @@ -120091,6 +137833,12 @@ immunodeficiency 34, mycobacteriosis, X-linked immunodeficiency 34 + + + + IMD34 + + @@ -120115,6 +137863,12 @@ ZDHHC9 + + + + ZDHHC9 + + @@ -120140,6 +137894,12 @@ AMER1 + + + + AMER1 + + @@ -120158,6 +137918,12 @@ ocular albinism with sensorineural deafness albinism, ocular, with late-onset sensorineural deafness + + + + OASD + + @@ -120183,6 +137949,12 @@ PORCN + + + + PORCN + + @@ -120250,6 +138022,12 @@ norrin cystine knot growth factor ndp NDP + + + + NDP + + @@ -120275,6 +138053,12 @@ mental retardation, x-linked, with macrocephaly intellectual developmental disorder, X-linked 93 + + + + XLID93 + + @@ -120329,6 +138113,12 @@ infantile spasm syndrome, X-linked 2 developmental and epileptic encephalopathy 2 + + + + DEE2 + + @@ -120362,6 +138152,12 @@ mental retardation, x-linked, syndromic 14 intellectual developmental disorder, x-linked, syndromic 14 + + + + MRXS14 + + @@ -120403,6 +138199,12 @@ DOCK11 + + + + DOCK11 + + @@ -120426,6 +138228,12 @@ BCORL1 + + + + BCORL1 + + @@ -120437,6 +138245,12 @@ scapuloperoneal myopathy, fhl1-related scapuloperoneal myopathy, X-linked dominant + + + + SPM + + @@ -120450,6 +138264,12 @@ This term has one or more labels that end with ', INCLUDED'. myopathy, x-linked, with postural muscle atrophy + + + + XMPMA + + @@ -120477,6 +138297,12 @@ HUWE1 + + + + HUWE1 + + @@ -120503,6 +138329,12 @@ mental retardation, x-linked, syndromic 29 intellectual developmental disorder, x-linked, syndromic, wu type + + + + MRXSW + + @@ -120520,6 +138352,12 @@ alds albinism-deafness syndrome + + + + ADFN + + @@ -120536,6 +138374,12 @@ spinocerebellar ataxia, X-linked 5 spinocerebellar ataxia, X-linked 5 + + + + SCAX5 + + @@ -120552,6 +138396,12 @@ prostate cancer, hereditary, X-linked 2 prostate cancer, hereditary, X-linked 2 + + + + HPCX2 + + @@ -120603,6 +138453,12 @@ toe syndactyly, telecanthus, and anogenital and renal malformations toe syndactyly, telecanthus, and anogenital and renal malformations + + + + STAR + + @@ -120627,6 +138483,12 @@ CCNQ + + + + CCNQ + + @@ -120645,6 +138507,12 @@ mental retardation, x-linked, syndromic 9 intellectual developmental disorder, x-linked, syndromic 9 + + + + MRXS9 + + @@ -120662,6 +138530,12 @@ alopecia, androgenetic, 2 alopecia, androgenetic, 2 + + + + AGA2 + + @@ -120679,6 +138553,12 @@ pyloric stenosis, infantile hypertrophic, 4 pyloric stenosis, infantile hypertrophic, 4 + + + + IHPS4 + + @@ -120718,6 +138598,12 @@ OTUD5 + + + + OTUD5 + + @@ -120747,6 +138633,12 @@ magnesium transporter 1 MAGT1 + + + + MAGT1 + + @@ -120765,6 +138657,12 @@ mental retardation, X-linked 95 intellectual developmental disorder, X-linked 95 + + + + XLID95 + + @@ -120775,6 +138673,12 @@ reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset + + + + RBMX1A + + @@ -120785,6 +138689,12 @@ reducing body myopathy, X-linked 1b, with late childhood or adult onset reducing body myopathy, X-linked 1b, with late childhood or adult onset + + + + RBMX1B + + @@ -120826,6 +138736,12 @@ CNKSR2 + + + + CNKSR2 + + @@ -120886,6 +138802,12 @@ plasma thromboplastin component F9 + + + + F9 + + @@ -120913,6 +138835,12 @@ STS + + + + STS + + @@ -120928,6 +138856,12 @@ micpch syndrome intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia + + + + MICPCH + + @@ -120945,6 +138879,12 @@ spastic paraplegia 34, X-linked spastic paraplegia 34, X-linked + + + + SPG34 + + @@ -120960,6 +138900,12 @@ hereditary iron-loading anemia anemia, sideroblastic, 1 + + + + SIDBA1 + + @@ -120973,6 +138919,12 @@ protoporphyria, erythropoietic, X-linked dominant protoporphyria, erythropoietic, X-linked + + + + XLEPP + + @@ -120990,6 +138942,12 @@ This term has one or more labels that end with ', INCLUDED'. agammaglobulinemia, X-linked + + + + XLA + + @@ -121006,6 +138964,12 @@ alzheimer disease 16 alzheimer disease 16 + + + + AD16 + + @@ -121030,6 +138994,12 @@ RP2 + + + + RP2 + + @@ -121053,6 +139023,12 @@ hypospadias 2, X-linked hypospadias 2, X-linked + + + + HYSP2 + + @@ -121076,6 +139052,12 @@ NKAP + + + + NKAP + + @@ -121099,6 +139081,12 @@ CYLC1 + + + + CYLC1 + + @@ -121125,6 +139113,12 @@ surfactant metabolism dysfunction, pulmonary, 4 surfactant metabolism dysfunction, pulmonary, 4 + + + + SMDP4 + + @@ -121154,6 +139148,12 @@ ras-associated protein rab39b RAB39B + + + + RAB39B + + @@ -121179,6 +139179,12 @@ ELF4 + + + + ELF4 + + @@ -121205,6 +139211,12 @@ ALG13 + + + + ALG13 + + @@ -121230,6 +139242,12 @@ TMLHE + + + + TMLHE + + @@ -121256,6 +139274,12 @@ endothelial corneal dystrophy, X-linked corneal dystrophy, endothelial, X-linked + + + + XECD + + @@ -121278,6 +139302,12 @@ phosphorylase kinase, liver, alpha-2 subunit PHKA2 + + + + PHKA2 + + @@ -121302,6 +139332,12 @@ mental retardation, x-linked, syndromic, raymond type intellectual developmental disorder, x-linked, syndromic, raymond type + + + + MRXSR + + @@ -121350,6 +139386,12 @@ mental retardation, X-linked 96 intellectual developmental disorder, X-linked 96 + + + + XLID96 + + @@ -121376,6 +139418,12 @@ mrxz intellectual developmental disorder, X-linked 97 + + + + XLID97 + + @@ -121387,6 +139435,12 @@ joubert syndrome 10 joubert syndrome 10 + + + + JBTS10 + + @@ -121414,6 +139468,12 @@ AFF2 + + + + AFF2 + + @@ -121427,6 +139487,12 @@ This term has one or more labels that end with ', INCLUDED'. thrombophilia, x-linked, due to factor 9 defect + + + + THPH8 + + @@ -121456,6 +139522,12 @@ oa1 gene GPR143 + + + + GPR143 + + @@ -121472,6 +139544,12 @@ systemic lupus erythematosus, susceptibility to, 15 systemic lupus erythematosus, susceptibility to, 15 + + + + SLEB15 + + @@ -121504,6 +139582,12 @@ nystagmus 6, congenital, X-linked nystagmus 6, congenital, X-linked + + + + NYS6 + + @@ -121531,6 +139615,12 @@ encephalomyopathy, mitochondrial, X-linked combined oxidative phosphorylation deficiency 6 + + + + COXPD6 + + @@ -121542,6 +139632,12 @@ paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria 1 + + + + PNH1 + + @@ -121571,6 +139667,12 @@ opsin 1, medium-wave-sensitive OPN1MW + + + + OPN1MW + + @@ -121600,6 +139702,12 @@ red cone pigment OPN1LW + + + + OPN1LW + + @@ -121623,6 +139731,12 @@ IDS + + + + IDS + + @@ -121652,6 +139766,12 @@ stromal antigen 2 STAG2 + + + + STAG2 + + @@ -121675,6 +139795,12 @@ FGF16 + + + + FGF16 + + @@ -121698,6 +139824,12 @@ PTCHD1 + + + + PTCHD1 + + @@ -121731,6 +139863,12 @@ chromosome xp22 deletion syndrome autism, susceptibility to, X-linked 4 + + + + AUTSX4 + + @@ -121742,6 +139880,12 @@ mental retardation, x-linked, with thin body habitus and cortical malformation ck syndrome + + + + CKS + + @@ -121762,6 +139906,12 @@ This term has one or more labels that end with ', INCLUDED'. 46,xx sex reversal 3 + + + + SRXX3 + + @@ -121781,6 +139931,12 @@ anemia, x-linked, with or without neutropenia and/or platelet abnormalities anemia, x-linked, with or without neutropenia and/or platelet abnormalities + + + + XLANP + + @@ -121807,6 +139963,12 @@ ANOS1 + + + + ANOS1 + + @@ -121832,6 +139994,12 @@ FRMPD4 + + + + FRMPD4 + + @@ -121855,6 +140023,12 @@ RS1 + + + + RS1 + + @@ -121885,6 +140059,12 @@ factor 8 F8 + + + + F8 + + @@ -121909,6 +140089,12 @@ neuroacanthocytosis, mcleod type mcleod syndrome + + + + MCLDS + + @@ -121926,6 +140112,12 @@ myopia, high, with nonprogressive cone dysfunction bornholm eye disease + + + + BED + + @@ -121938,6 +140130,12 @@ mental retardation, X-linked 19 intellectual developmental disorder, X-linked 19 + + + + XLID19 + + @@ -121957,6 +140155,12 @@ syndromic moyamoya disease moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism + + + + MYMY4 + + @@ -121968,6 +140172,12 @@ autism, susceptibility to, X-linked 5 autism, susceptibility to, X-linked 5 + + + + AUTSX5 + + @@ -121986,6 +140196,12 @@ mental retardation, X-linked 89 intellectual developmental disorder, X-linked 89 + + + + XLID89 + + @@ -122011,6 +140227,12 @@ mental retardation, X-linked 48 intellectual developmental disorder, X-linked 41 + + + + XLID41 + + @@ -122035,6 +140257,12 @@ mental retardation, X-linked 90 intellectual developmental disorder, X-linked 90 + + + + XLID90 + + @@ -122053,6 +140281,12 @@ mental retardation, X-linked 92 intellectual developmental disorder, X-linked 92 + + + + XLID92 + + @@ -122071,6 +140305,12 @@ mental retardation, X-linked 88 intellectual developmental disorder, X-linked 88 + + + + XLID88 + + @@ -122081,6 +140321,12 @@ immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia + + + + XMEN + + @@ -122091,6 +140337,12 @@ renal cell carcinoma, xp11-associated renal cell carcinoma, xp11-associated + + + + RCCX1 + + @@ -122102,6 +140354,12 @@ ogden syndrome ogden syndrome + + + + OGDNS + + @@ -122119,6 +140377,12 @@ hypospadias 4, x-linked, susceptibility to hypospadias 4, x-linked, susceptibility to + + + + HYSP4 + + @@ -122142,6 +140406,12 @@ amyotrophic lateral sclerosis 15 with or without frontotemporal dementia amyotrophic lateral sclerosis 15 with or without frontotemporal dementia + + + + ALS15 + + @@ -122161,6 +140431,12 @@ mental retardation, x-linked, with alacrima and achalasia intellectual developmental disorder, x-linked, syndromic 17 + + + + MRXS17 + + @@ -122184,6 +140460,12 @@ CCDC22 + + + + CCDC22 + + @@ -122209,6 +140491,12 @@ mental retardation, x-linked, syndromic, nascimento type intellectual developmental disorder, x-linked, syndromic, nascimento type + + + + MRXSN + + @@ -122228,6 +140516,12 @@ mental retardation, x-linked, with seizures, hypogammaglobulinemia, and gait disturbance intellectual developmental disorder, x-linked, syndromic, chudley-schwartz type + + + + MRXSCS + + @@ -122287,6 +140581,12 @@ kabuki syndrome 2 kabuki syndrome 2 + + + + KABUK2 + + @@ -122302,6 +140602,12 @@ multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome 2 + + + + MCAHS2 + + @@ -122334,6 +140640,12 @@ aneurysm, intracranial berry, 5 aneurysm, intracranial berry, 5 + + + + ANIB5 + + @@ -122358,6 +140670,12 @@ epsilon-trimethyllysine hydroxylase deficiency autism, susceptibility to, X-linked 6 + + + + AUTSX6 + + @@ -122390,6 +140708,12 @@ cornelia lange lange syndrome 5 cornelia lange lange syndrome 5 + + + + CDLS5 + + @@ -122417,6 +140741,12 @@ epileptic encephalopathy, early infantile, 36 developmental and epileptic encephalopathy 36 + + + + DEE36 + + @@ -122441,6 +140771,12 @@ COX7B + + + + COX7B + + @@ -122459,6 +140795,12 @@ mental retardation, x-linked, syndromic 32 intellectual developmental disorder, x-linked, syndromic 32 + + + + MRXS32 + + @@ -122483,6 +140825,12 @@ linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies 2 + + + + LSDMCA2 + + @@ -122505,6 +140853,12 @@ hypothyroidism, central, with testicular enlargement hypothyroidism, central, with testicular enlargement + + + + CHTE + + @@ -122530,6 +140884,12 @@ static encephalopathy of childhood with neurodegeneration 1n adulthood neurodegeneration with brain iron accumulation 5 + + + + NBIA5 + + @@ -122541,6 +140901,12 @@ ohdo syndrome, X-linked ohdo syndrome, X-linked + + + + OHDOX + + @@ -122568,6 +140934,12 @@ epileptic encephalopathy, early infantile, 22 congenital disorder of glycosylation, type iim + + + + CDG2M + + @@ -122597,6 +140969,12 @@ zinc finger c4h2 domain-containing protein ZC4H2 + + + + ZC4H2 + + @@ -122630,6 +141008,12 @@ IRS4 + + + + IRS4 + + @@ -122654,6 +141038,12 @@ charcot-marie-tooth neuropathy, X-linked dominant, 6 charcot-marie-tooth disease, X-linked dominant, 6 + + + + CMTX6 + + @@ -122677,6 +141067,12 @@ PDK3 + + + + PDK3 + + @@ -122701,6 +141097,12 @@ CSTF2 + + + + CSTF2 + + @@ -122733,6 +141135,12 @@ angioedema induced by ace inhibitors, susceptibility to angioedema induced by ace inhibitors, susceptibility to + + + + AEACEI + + @@ -122744,6 +141152,12 @@ osteoporosis and osteoporotic fractures, susceptibility to bone mineral density quantitative trait locus 18 + + + + BMND18 + + @@ -122754,6 +141168,12 @@ parkinsonism with spasticity, X-linked parkinsonism with spasticity, X-linked + + + + XPDS + + @@ -122778,6 +141198,12 @@ mental retardation, X-linked 98 intellectual developmental disorder, X-linked 98 + + + + XLID98 + + @@ -122802,6 +141228,12 @@ VMA21 + + + + VMA21 + + @@ -122825,6 +141257,12 @@ deafness, X-linked 6 deafness, X-linked 6 + + + + DFNX6 + + @@ -122850,6 +141288,12 @@ microphthalmia, syndromic 13 microphthalmia, syndromic 13 + + + + MCOPS13 + + @@ -122862,6 +141306,12 @@ palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked olmsted syndrome, X-linked + + + + OLMSX + + @@ -122874,6 +141324,12 @@ mental retardation, X-linked 99 intellectual developmental disorder, X-linked 99 + + + + XLID99 + + @@ -122886,6 +141342,12 @@ mental retardation, X-linked 100 intellectual developmental disorder, X-linked 100 + + + + XLID100 + + @@ -122910,6 +141372,12 @@ mental retardation, X-linked 101 intellectual developmental disorder, X-linked 101 + + + + XLID101 + + @@ -122932,6 +141400,12 @@ thyroxine-binding globulin quantitative trait locus thyroxine-binding globulin quantitative trait locus + + + + TBGQTL + + @@ -122955,6 +141429,12 @@ PIH1D3 + + + + PIH1D3 + + @@ -122979,6 +141459,12 @@ congenital disorder of glycosylation, type iy congenital disorder of glycosylation, type iy + + + + CDG1Y + + @@ -123021,6 +141507,12 @@ pituitary adenoma 2, growth hormone-secreting pituitary adenoma 2, growth hormone-secreting + + + + PITA2 + + @@ -123046,6 +141538,12 @@ TSR2 + + + + TSR2 + + @@ -123069,6 +141567,12 @@ diamond-blackfan anemia 14 with mandibulofacial dysostosis diamond-blackfan anemia 14 with mandibulofacial dysostosis + + + + DBA14 + + @@ -123093,6 +141597,12 @@ RNF113A + + + + RNF113A + + @@ -123105,6 +141615,12 @@ linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies 3 + + + + LSDMCA3 + + @@ -123128,6 +141644,12 @@ trichothiodystrophy 5, nonphotosensitive trichothiodystrophy 5, nonphotosensitive + + + + TTD5 + + @@ -123153,6 +141675,12 @@ mental retardation, X-linked 35 intellectual developmental disorder, X-linked 12 + + + + XLID12 + + @@ -123177,6 +141705,12 @@ mental retardation, X-linked 102, formerly intellectual developmental disorder, x-linked, syndromic, snijders blok type + + + + MRXSSB + + @@ -123188,6 +141722,12 @@ mend syndrome mend syndrome + + + + MEND + + @@ -123211,6 +141751,12 @@ ritscher-schinzel syndrome 2 ritscher-schinzel syndrome 2 + + + + RTSC2 + + @@ -123235,6 +141781,12 @@ LAS1L + + + + LAS1L + + @@ -123247,6 +141799,12 @@ mental retardation, x-linked, syndromic 33 intellectual developmental disorder, x-linked, syndromic 33 + + + + MRXS33 + + @@ -123272,6 +141830,12 @@ mental retardation, x-linked, syndromic, mircsof-langouet type intellectual developmental disorder, x-linked, syndromic 34 + + + + MRXS34 + + @@ -123284,6 +141848,12 @@ mental retardation, X-linked 99, syndromic, female-restricted intellectual developmental disorder, X-linked 99, syndromic, female-restricted + + + + MRXS99F + + @@ -123308,6 +141878,12 @@ GPRASP2 + + + + GPRASP2 + + @@ -123331,6 +141907,12 @@ bartter syndrome, type 5, antenatal, transient bartter syndrome, type 5, antenatal, transient + + + + BARTS5 + + @@ -123358,6 +141940,12 @@ immunodeficiency and hepatopathy with or without neurologic features immunodeficiency 47 + + + + IMD47 + + @@ -123383,6 +141971,12 @@ USP27X + + + + USP27X + + @@ -123394,6 +141988,12 @@ scholte syndrome scholte syndrome + + + + SHLTS + + @@ -123420,6 +142020,12 @@ tonne-kalscheuer syndrome tonne-kalscheuer syndrome + + + + TOKAS + + @@ -123461,6 +142067,12 @@ KLHL15 + + + + KLHL15 + + @@ -123485,6 +142097,12 @@ mental retardation, X-linked 103 intellectual developmental disorder, X-linked 103 + + + + XLID103 + + @@ -123509,6 +142127,12 @@ mental retardation, X-linked 104 intellectual developmental disorder, X-linked 104 + + + + XLID104 + + @@ -123533,6 +142157,12 @@ mental retardation, X-linked 105 intellectual developmental disorder, X-linked 105 + + + + XLID105 + + @@ -123556,6 +142186,12 @@ vas deferens, congenital bilateral aplasia of, X-linked vas deferens, congenital bilateral aplasia of, X-linked + + + + CBAVDX + + @@ -123580,6 +142216,12 @@ mental retardation, x-linked, syndromic, bain type intellectual developmental disorder, x-linked, syndromic, bain type + + + + MRXSB + + @@ -123613,6 +142255,12 @@ immunodeficiency 50, X-linked recessive immunodeficiency 50 + + + + IMD50 + + @@ -123623,6 +142271,12 @@ meester-loeys syndrome meester-loeys syndrome + + + + MRLS + + @@ -123645,6 +142299,12 @@ midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis + + + + MFHIEN + + @@ -123669,6 +142329,12 @@ ciliary dyskinesia, primary, 36, with or without situs inversus ciliary dyskinesia, primary, 36, X-linked + + + + CILD36 + + @@ -123693,6 +142359,12 @@ mental retardation, X-linked 106 intellectual developmental disorder, X-linked 106 + + + + XLID106 + + @@ -123705,6 +142377,12 @@ mental retardation, x-linked, syndromic 35 intellectual developmental disorder, x-linked, syndromic 35 + + + + MRXS35 + + @@ -123720,6 +142398,12 @@ wiskott-aldrich syndrome 1 wiskott-aldrich syndrome + + + + WAS + + @@ -123743,6 +142427,12 @@ galloway-mowat syndrome 2, X-linked galloway-mowat syndrome 2, X-linked + + + + GAMOS2 + + @@ -123767,6 +142457,12 @@ mental retardation, x-linked, syndromic, houge type intellectual developmental disorder, x-linked, syndromic, houge type + + + + MRXSHG + + @@ -123790,6 +142486,12 @@ myopia 26, x-linked, female-limited myopia 26, x-linked, female-limited + + + + MYP26 + + @@ -123814,6 +142516,12 @@ STEEP1 + + + + STEEP1 + + @@ -123838,6 +142546,12 @@ mental retardation, X-linked 107 intellectual developmental disorder, X-linked 107 + + + + XLID107 + + @@ -123849,6 +142563,12 @@ osteogenesis imperfecta, type 19 osteogenesis imperfecta, type 19 + + + + OI19 + + @@ -123871,6 +142591,12 @@ hemolytic anemia, congenital, X-linked hemolytic anemia, congenital, X-linked + + + + HACXL + + @@ -123894,6 +142620,12 @@ deafness, X-linked 7 deafness, X-linked 7 + + + + DFNX7 + + @@ -123917,6 +142649,12 @@ mitochondrial complex 1 deficiency, nuclear type 12 mitochondrial complex 1 deficiency, nuclear type 12 + + + + MC1DN12 + + @@ -123928,6 +142666,12 @@ mitochondrial complex 1 deficiency, nuclear type 30 mitochondrial complex 1 deficiency, nuclear type 30 + + + + MC1DN30 + + @@ -123939,6 +142683,12 @@ neurodevelopmental disorder, x-linked, with craniofacial abnormalities mullegama-klein-martinez syndrome + + + + MKMS + + @@ -123963,6 +142713,12 @@ mental retardation, X-linked 108 intellectual developmental disorder, X-linked 108 + + + + MRX108 + + @@ -123987,6 +142743,12 @@ paganini-miozzo syndrome paganini-miozzo syndrome + + + + MRXSPM + + @@ -124010,6 +142772,12 @@ nasodigitoacoustic syndrome, formerly keipert syndrome + + + + KPTS + + @@ -124033,6 +142801,12 @@ TBC1D8B + + + + TBC1D8B + + @@ -124056,6 +142830,12 @@ nephrotic syndrome, type 20 nephrotic syndrome, type 20 + + + + NPHS20 + + @@ -124078,6 +142858,12 @@ shukla-vernon syndrome shukla-vernon syndrome + + + + SHUVER + + @@ -124090,6 +142876,12 @@ van esch-o'driscoll syndrome van esch-o'driscoll syndrome + + + + VEODS + + @@ -124101,6 +142893,12 @@ congenital disorder of glycosylation, type icc congenital disorder of glycosylation, type icc + + + + CDG1CC + + @@ -124127,6 +142925,12 @@ mental retardation, x-linked, syndromic, basilicata-akhtar type basilicata-akhtar syndrome + + + + MRXSBA + + @@ -124150,6 +142954,12 @@ hypothyroidism, congenital, nongoitrous, 8 hypothyroidism, congenital, nongoitrous, 8 + + + + CHNG8 + + @@ -124173,6 +142983,12 @@ hypothyroidism, congenital, nongoitrous, 9 hypothyroidism, congenital, nongoitrous, 9 + + + + CHNG9 + + @@ -124197,6 +143013,12 @@ mental retardation, x-linked, with marfanoid habitus, 2 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type + + + + MRXSHD + + @@ -124211,6 +143033,12 @@ atr-x syndrome alpha-thalassemia/impaired intellectual development syndrome, X-linked + + + + ATRX + + @@ -124222,6 +143050,12 @@ wieacker-wolff syndrome, female-restricted wieacker-wolff syndrome, female-restricted + + + + WRWFFR + + @@ -124233,6 +143067,12 @@ holoprosencephaly 13, X-linked holoprosencephaly 13, X-linked + + + + HPE13 + + @@ -124245,6 +143085,12 @@ epileptic encephalopathy, early infantile, 85, with or without midline brain defects developmental and epileptic encephalopathy 85 with or without midline brain defects + + + + DEE85 + + @@ -124257,6 +143103,12 @@ congenital disorder of glycosylation, type iir congenital disorder of glycosylation, type iir + + + + CDG2R + + @@ -124282,6 +143134,12 @@ nephropathy and deafness, X-linked alport syndrome 1, X-linked + + + + ATS1 + + @@ -124295,6 +143153,12 @@ tlr7 deficiency immunodeficiency 74, covid19-related, X-linked + + + + IMD74 + + @@ -124315,6 +143179,12 @@ vexas syndrome vexas syndrome + + + + VEXAS + + @@ -124338,6 +143208,12 @@ multiple congenital anomalies-neurodevelopmental syndrome, X-linked multiple congenital anomalies-neurodevelopmental syndrome, X-linked + + + + MCAND + + @@ -124362,6 +143238,12 @@ CFAP47 + + + + CFAP47 + + @@ -124373,6 +143255,12 @@ developmental and epileptic encephalopathy 90 developmental and epileptic encephalopathy 90 + + + + DEE90 + + @@ -124396,6 +143284,12 @@ spermatogenic failure, x-linked, 3 spermatogenic failure, x-linked, 3 + + + + SPGFX3 + + @@ -124418,6 +143312,12 @@ azoospermia, obstructive, with nephrolithiasis azoospermia, obstructive, with nephrolithiasis + + + + OAZON + + @@ -124428,6 +143328,12 @@ intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies + + + + MRXSPF + + @@ -124438,6 +143344,12 @@ hardikar syndrome hardikar syndrome + + + + HDKR + + @@ -124463,6 +143375,12 @@ thrombophilia, x-linked, due to factor 8 defect thrombophilia, x-linked, due to factor 8 defect + + + + THPH13 + + @@ -124474,6 +143392,12 @@ neurodevelopmental disorder with epilepsy and hemochromatosis neurodevelopmental disorder with epilepsy and hemochromatosis + + + + NEDEPH + + @@ -124498,6 +143422,12 @@ deficiency 1n elf4, X-linked autoinflammatory syndrome, familial, x-linked, behcet-like 2 + + + + AIFBL2 + + @@ -124509,6 +143439,12 @@ myopathy, distal, 7, adult-onset, X-linked myopathy, distal, 7, adult-onset, X-linked + + + + MPD7 + + @@ -124532,6 +143468,12 @@ intellectual developmental disorder, x-linked, syndromic, pilorge type intellectual developmental disorder, x-linked, syndromic, pilorge type + + + + MRXSP + + @@ -124555,6 +143497,12 @@ spermatogenic failure, x-linked, 4 spermatogenic failure, x-linked, 4 + + + + SPGFX4 + + @@ -124579,6 +143527,12 @@ inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by tlr8 immunodeficiency 98 with autoinflammation, X-linked + + + + IMD98 + + @@ -124589,6 +143543,12 @@ systemic lupus erythematosus 17 systemic lupus erythematosus 17 + + + + SLEB17 + + @@ -124599,6 +143559,12 @@ autoinflammatory disease, systemic, X-linked autoinflammatory disease, systemic, X-linked + + + + SAIDX + + @@ -124622,6 +143588,12 @@ immunodeficiency 102 immunodeficiency 102 + + + + IMD102 + + @@ -124633,6 +143605,12 @@ erythrocyte ada, elevated, hemolytic anemia due to adenosine deaminase, elevated, hemolytic anemia due to + + + + HAEADA + + @@ -124665,6 +143643,12 @@ epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features + + + + EPILX2 + + @@ -124688,6 +143672,12 @@ neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked hijazi-reis syndrome + + + + HIJRS + + @@ -124699,6 +143689,12 @@ intellectual developmental disorder, X-linked 110 intellectual developmental disorder, X-linked 110 + + + + XLID110 + + @@ -124722,6 +143718,12 @@ spermatogenic failure, x-linked, 5 spermatogenic failure, x-linked, 5 + + + + SPGFX5 + + @@ -124754,6 +143756,12 @@ spermatogenic failure, x-linked, 6 spermatogenic failure, x-linked, 6 + + + + SPGFX6 + + @@ -124778,6 +143786,12 @@ CT55 + + + + CT55 + + @@ -124801,6 +143815,12 @@ spermatogenic failure, x-linked, 7 spermatogenic failure, x-linked, 7 + + + + SPGFX7 + + @@ -124824,6 +143844,12 @@ intellectual developmental disorder, X-linked 111 intellectual developmental disorder, X-linked 111 + + + + XLID111 + + @@ -124835,6 +143861,12 @@ cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 + + + + CHINE1 + + @@ -124858,6 +143890,12 @@ dock11 deficiency autoinflammatory disease, multisystem, with immune dysregulation, X-linked + + + + ADMIDX + + @@ -124869,6 +143907,12 @@ hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature + + + + AHUS8 + + @@ -124892,6 +143936,12 @@ intellectual developmental disorder, X-linked 112 intellectual developmental disorder, X-linked 112 + + + + XLID112 + + @@ -124915,6 +143965,12 @@ SPIN4 + + + + SPIN4 + + @@ -124937,6 +143993,12 @@ lui-jee-baron syndrome lui-jee-baron syndrome + + + + LJBS + + @@ -124961,6 +144023,12 @@ immunodeficiency 118, mycobacteriosis, X-linked recessive immunodeficiency 118 + + + + IMD118 + + @@ -124984,6 +144052,12 @@ intellectual developmental disorder, X-linked 113 intellectual developmental disorder, X-linked 113 + + + + XLID113 + + @@ -125007,6 +144081,12 @@ intellectual developmental disorder, x-linked, syndromic 37 intellectual developmental disorder, x-linked, syndromic 37 + + + + MRXS37 + + @@ -125030,6 +144110,12 @@ spermatogenic failure, x-linked, 8 spermatogenic failure, x-linked, 8 + + + + SPGFX8 + + @@ -125040,6 +144126,12 @@ prostate cancer, hereditary, X-linked 3 prostate cancer, hereditary, X-linked 3 + + + + HPCX3 + + @@ -125067,6 +144159,12 @@ enamel hypoplasia, X-linked 1 amelogenesis imperfecta, type 1e + + + + AI1E + + @@ -125096,6 +144194,12 @@ xlpdr pigmentary disorder, reticulate, with systemic manifestations, X-linked + + + + PDR + + @@ -125126,6 +144230,12 @@ delta-aminolevulinate synthase 2 ALAS2 + + + + ALAS2 + + @@ -125149,6 +144259,12 @@ spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia + + + + SCAX6 + + @@ -125221,6 +144337,12 @@ ARR3 + + + + ARR3 + + @@ -125283,6 +144405,12 @@ spinal muscular atrophy, infantile X-linked spinal muscular atrophy, X-linked 2 + + + + SMAX2 + + @@ -125297,6 +144425,12 @@ mental retardation, x-linked, syndromic, arts type arts syndrome + + + + ARTS + + @@ -125326,6 +144460,12 @@ follicular atrophoderma and basal cell carcinomas bazex-dupre-christol syndrome + + + + BDCS + + @@ -125364,6 +144504,12 @@ proteoglycan 1 BGN + + + + BGN + + @@ -125400,6 +144546,12 @@ mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type borjeson-forssman-lehmann syndrome + + + + BFLS + + @@ -125431,6 +144583,12 @@ epidermolysis bullosa, macular type bullous dystrophy, hereditary macular type + + + + HBDM + + @@ -125452,6 +144610,12 @@ cardiomyopathy, dilated, X-linked cardiomyopathy, dilated, 3b + + + + CMD3B + + @@ -125478,6 +144642,12 @@ mga, type 2 barth syndrome + + + + BTHS + + @@ -125492,6 +144662,12 @@ cataract, congenital, X-linked cataract 40 + + + + CTRCT40 + + @@ -125514,6 +144690,12 @@ nance-horan syndrome nance-horan syndrome + + + + NHS + + @@ -125556,6 +144738,12 @@ spinocerebellar ataxia, X-linked 1 spinocerebellar ataxia, X-linked 1 + + + + SCAX1 + + @@ -125605,6 +144793,12 @@ hmsn, X-linked charcot-marie-tooth disease, X-linked dominant, 1 + + + + CMTX1 + + @@ -125623,6 +144817,12 @@ charcot-marie-tooth neuropathy, X-linked recessive, 2 charcot-marie-tooth disease, X-linked recessive, 2 + + + + CMTX2 + + @@ -125641,6 +144841,12 @@ charcot-marie-tooth neuropathy, X-linked recessive, 3 charcot-marie-tooth disease, X-linked recessive, 3 + + + + CMTX3 + + @@ -125670,6 +144876,12 @@ charge-like syndrome, X-linked abruzzo-erickson syndrome + + + + ABERS + + @@ -125694,6 +144906,12 @@ CLCN4 + + + + CLCN4 + + @@ -125736,6 +144954,12 @@ cpxr chondrodysplasia punctata 1, X-linked recessive + + + + CDPX1 + + @@ -125750,6 +144974,12 @@ happle syndrome chondrodysplasia punctata 2, X-linked dominant + + + + CDPX2 + + @@ -125775,6 +145005,12 @@ This term has one or more labels that end with ', INCLUDED'. choroideremia + + + + CHM + + @@ -125818,6 +145054,12 @@ cleft palate with or without ankyloglossia, X-linked cleft palate with or without ankyloglossia, X-linked + + + + CPX + + @@ -125828,6 +145070,12 @@ coffin-lowry syndrome coffin-lowry syndrome + + + + CLS + + @@ -125852,6 +145100,12 @@ COL4A5 + + + + COL4A5 + + @@ -125876,6 +145130,12 @@ COL4A6 + + + + COL4A6 + + @@ -125900,6 +145160,12 @@ This term has one or more labels that end with ', INCLUDED'. blue cone monochromacy + + + + BCM + + @@ -125915,6 +145181,12 @@ This term has one or more labels that end with ', INCLUDED'. colorblindness, partial, deutan series + + + + CBD + + @@ -125929,6 +145201,12 @@ This term has one or more labels that end with ', INCLUDED'. colorblindness, partial, protan series + + + + CBP + + @@ -125951,6 +145229,12 @@ This term has one or more labels that end with ', INCLUDED'. cone-rod dystrophy, x-linked, 1 + + + + CORDX1 + + @@ -125986,6 +145270,12 @@ GJB1 + + + + GJB1 + + @@ -126003,6 +145293,12 @@ corpus callosum, agenesis of, with chorioretinal abnormality aicardi syndrome + + + + AIC + + @@ -126036,6 +145332,12 @@ craniofrontonasal syndrome craniofrontonasal syndrome + + + + CFNS + + @@ -126050,6 +145352,12 @@ otopalatodigital syndrome, type 2 otopalatodigital syndrome, type 2 + + + + OPD2 + + @@ -126064,6 +145372,12 @@ occipital horn syndrome occipital horn syndrome + + + + OHS + + @@ -126111,6 +145425,12 @@ pettigrew syndrome pettigrew syndrome + + + + PGS + + @@ -126150,6 +145470,12 @@ sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear deafness, X-linked 2 + + + + DFNX2 + + @@ -126162,6 +145488,12 @@ deafness, X-linked 2, sensorineural congenital deafness, X-linked 1 + + + + DFNX1 + + @@ -126207,6 +145539,12 @@ opticoacoustic nerve atrophy with dementia mohr-tranebjaerg syndrome + + + + MTS + + @@ -126223,6 +145561,12 @@ dermoids of cornea dermoids of cornea + + + + CND + + @@ -126264,6 +145608,12 @@ This term has one or more labels that end with ', INCLUDED'. immunodysregulation, polyendocrinopathy, and enteropathy, X-linked + + + + IPEX + + @@ -126276,6 +145626,12 @@ ndi diabetes insipidus, nephrogenic, 1, X-linked + + + + NDI1 + + @@ -126329,6 +145685,12 @@ This term has one or more labels that end with ', INCLUDED'. dyskeratosis congenita, X-linked + + + + DKCX + + @@ -126357,6 +145719,12 @@ xlhed ectodermal dysplasia 1, hypohidrotic, X-linked + + + + XHED + + @@ -126387,6 +145755,12 @@ epidermodysplasia verruciformis, X-linked epidermodysplasia verruciformis, X-linked + + + + EVX + + @@ -126436,6 +145810,12 @@ transcription factor gata1 GATA1 + + + + GATA1 + + @@ -126450,6 +145830,12 @@ fevr, X-linked exudative vitreoretinopathy 2, X-linked + + + + EVR2 + + @@ -126468,6 +145854,12 @@ This term has one or more labels that end with ', INCLUDED'. aarskog-scott syndrome + + + + AAS + + @@ -126496,6 +145888,12 @@ hpfh, swiss type fetal hemoglobin quantitative trait locus 3 + + + + HBFQTL3 + + @@ -126511,6 +145909,12 @@ opitz-kaveggia syndrome opitz-kaveggia syndrome + + + + OKS + + @@ -126545,6 +145949,12 @@ goltz-gorlin syndrome focal dermal hypoplasia + + + + FDH + + @@ -126557,6 +145967,12 @@ frontometaphyseal dysplasia 1 frontometaphyseal dysplasia 1 + + + + FMD1 + + @@ -126600,6 +146016,12 @@ GABRA3 + + + + GABRA3 + + @@ -126623,6 +146045,12 @@ spermatogenic failure, x-linked, 1 spermatogenic failure, x-linked, 1 + + + + SPGFX1 + + @@ -126661,6 +146089,12 @@ glucose-6-phosphate dehydrogenase G6PD + + + + G6PD + + @@ -126695,6 +146129,12 @@ GRIA3 + + + + GRIA3 + + @@ -126736,6 +146176,12 @@ GLRA2 + + + + GLRA2 + + @@ -126754,6 +146200,12 @@ This term has one or more labels that end with ', INCLUDED'. glycogen storage disease ixa1 + + + + GSD9A1 + + @@ -126796,6 +146248,12 @@ CSF2RA + + + + CSF2RA + + @@ -126823,6 +146281,12 @@ This term has one or more labels that end with ', INCLUDED'. granulomatous disease, chronic, X-linked + + + + CGDX + + @@ -126853,6 +146317,12 @@ hemophilia, classic hemophilia a + + + + HEMA + + @@ -126879,6 +146349,12 @@ This term has one or more labels that end with ', INCLUDED'. hemophilia B + + + + HEMB + + @@ -126900,6 +146376,12 @@ hernia, anterior diaphragmatic diaphragmatic hernia 5, X-linked + + + + DIH5 + + @@ -126916,6 +146398,12 @@ This term has one or more labels that end with ', INCLUDED'. heterotaxy, visceral, 1, X-linked + + + + HTX1 + + @@ -126954,6 +146442,12 @@ microhydranencephaly, X-linked microhydranencephaly, X-linked + + + + MHACX + + @@ -126971,6 +146465,12 @@ sexual orientation, male homosexuality 1 + + + + HMS1 + + @@ -126986,6 +146486,12 @@ hydrocephalus, congenital, X-linked hydrocephalus, congenital, X-linked + + + + HYCX + + @@ -127020,6 +146526,12 @@ hyperglycerolemia glycerol kinase deficiency + + + + GKD + + @@ -127039,6 +146551,12 @@ hypertrichosis, congenital generalized, 2 hypertrichosis, congenital generalized, 2 + + + + HTC2 + + @@ -127055,6 +146573,12 @@ isolated growth hormone deficiency, type iii, with agammaglobulinemia isolated growth hormone deficiency, type iii, with agammaglobulinemia + + + + IGHD3 + + @@ -127100,6 +146624,12 @@ parathyroid glands, agenesis of hypoparathyroidism, X-linked + + + + HYPX + + @@ -127127,6 +146657,12 @@ vitamin d-resistant rickets, X-linked hypophosphatemic rickets, X-linked dominant + + + + XLHRD + + @@ -127176,6 +146712,12 @@ hypoxanthine guanine phosphoribosyltransferase 1 HPRT1 + + + + HPRT1 + + @@ -127215,6 +146757,12 @@ This term has one or more labels that end with ', INCLUDED'. ichthyosis, X-linked + + + + XLI + + @@ -127239,6 +146787,12 @@ ifap syndrome 1, with or without bresheck syndrome ifap syndrome 1, with or without bresheck syndrome + + + + IFAP1 + + @@ -127287,6 +146841,12 @@ immunodeficiency with hyper-igm, type 1 immunodeficiency with hyper-igm, type 1 + + + + HIGM1 + + @@ -127321,6 +146881,12 @@ xlp lymphoproliferative syndrome, x-linked, 1 + + + + XLP1 + + @@ -127361,6 +146927,12 @@ incontinentia pigmenti, type ii, formerly incontinentia pigmenti + + + + IP + + @@ -127387,6 +146959,12 @@ xmesid developmental and epileptic encephalopathy 1 + + + + DEE1 + + @@ -127427,6 +147005,12 @@ interleukin receptor, gamma-c IL2RG + + + + IL2RG + + @@ -127447,6 +147031,12 @@ iris hypoplasia with glaucoma iris hypoplasia with glaucoma + + + + IHG + + @@ -127484,6 +147074,12 @@ kms hypogonadotropic hypogonadism 1 with or without anosmia + + + + HH1 + + @@ -127505,6 +147101,12 @@ keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans, X-linked + + + + KFSDX + + @@ -127550,6 +147152,12 @@ neural cell adhesion molecule l1 L1CAM + + + + L1CAM + + @@ -127585,6 +147193,12 @@ lhon, modifier of leber hereditary optic neuropathy, modifier of + + + + LOAM + + @@ -127607,6 +147221,12 @@ leiomyomatosis, esophageal and vulval, with nephropathy leiomyomatosis, diffuse, with alport syndrome + + + + DL-ATS + + @@ -127656,6 +147276,12 @@ phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency lowe oculocerebrorenal syndrome + + + + OCRL + + @@ -127667,6 +147293,12 @@ luxs lutheran suppressor, X-linked + + + + XS + + @@ -127693,6 +147325,12 @@ LAMP2 + + + + LAMP2 + + @@ -127726,6 +147364,12 @@ spermatogenic failure, x-linked, 2 spermatogenic failure, x-linked, 2 + + + + SPGFX2 + + @@ -127754,6 +147398,12 @@ manic-depressive psychosis, X-linked major affective disorder 2 + + + + MAFD2 + + @@ -127765,6 +147415,12 @@ mgcn megalocornea + + + + MGC1 + + @@ -127777,6 +147433,12 @@ osteodysplasty of melnick and needles melnick-needles syndrome + + + + MNS + + @@ -127792,6 +147454,12 @@ steely hair disease menkes disease + + + + MNK + + @@ -127850,6 +147518,12 @@ sutherland-haan X-linked mental retardation syndrome renpenning syndrome 1 + + + + RENS1 + + @@ -127866,6 +147540,12 @@ partington syndrome partington syndrome + + + + PRTS + + @@ -127879,6 +147559,12 @@ mental retardation, x-linked, with marfanoid habitus, 1 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type + + + + MRXSLF + + @@ -127906,6 +147592,12 @@ mrx intellectual developmental disorder, X-linked 1 + + + + XLID1 + + @@ -127942,6 +147634,12 @@ methylmalonic aciduria and homocystinuria, cblx type methylmalonic aciduria and homocystinuria, cblx type + + + + MAHCX + + @@ -127960,6 +147658,12 @@ mental retardation, x-linked, syndromic 12 intellectual developmental disorder, x-linked, syndromic 12 + + + + MRXS12 + + @@ -127987,6 +147691,12 @@ mental retardation, x-linked, associated with fragile site fraxe intellectual developmental disorder, X-linked 109 + + + + XLID109 + + @@ -128012,6 +147722,12 @@ mental retardation, X-linked 9 intellectual developmental disorder, X-linked 9 + + + + XLID9 + + @@ -128050,6 +147766,12 @@ This term has one or more labels that end with ', INCLUDED'. FMR1 + + + + FMR1 + + @@ -128064,6 +147786,12 @@ mental retardation with optic atrophy, deafness, and seizures intellectual developmental disorder, x-linked, syndromic, gustavson type + + + + MRXSG + + @@ -128091,6 +147819,12 @@ xlmr-hypotonic facies syndrome intellectual disability-hypotonic facies syndrome, x-linked, 1 + + + + MRXHF1 + + @@ -128116,6 +147850,12 @@ snyder-robinson mental retardation syndrome intellectual developmental disorder, x-linked, syndromic, snyder-robinson type + + + + MRXSSR + + @@ -128143,6 +147883,12 @@ wilson-turner X-linked mental retardation syndrome intellectual developmental disorder, x-linked, syndromic, wilson-turner type + + + + WTS + + @@ -128172,6 +147918,12 @@ mental retardation, x-linked, with growth retardation, deafness, and microgenitalism intellectual developmental disorder, x-linked, syndromic, turner type + + + + MRXST + + @@ -128216,6 +147968,12 @@ prieto syndrome prieto syndrome + + + + PRS + + @@ -128234,6 +147992,12 @@ mental retardation, skeletal dysplasia, and abducens palsy christian syndrome + + + + CHRS + + @@ -128256,6 +148020,12 @@ metacarpal 4-5 fusion metacarpal 4-5 fusion + + + + MF4 + + @@ -128308,6 +148078,12 @@ microphthalmia, syndromic 4, formerly microphthalmia, syndromic 1 + + + + MCOPS1 + + @@ -128336,6 +148112,12 @@ midas syndrome linear skin defects with multiple congenital anomalies 1 + + + + LSDMCA1 + + @@ -128370,6 +148152,12 @@ MSN + + + + MSN + + @@ -128393,6 +148181,12 @@ monoamine oxidase a MAOA + + + + MAOA + + @@ -128422,6 +148216,12 @@ sulfoiduronate sulfatase deficiency mucopolysaccharidosis, type 2 + + + + MPS2 + + @@ -128471,6 +148271,12 @@ muscular dystrophy, pseudohypertrophic progressive, duchenne type muscular dystrophy, duchenne type + + + + DMD + + @@ -128498,6 +148304,12 @@ scapuloperoneal syndrome, x-linked, formerly emery-dreifuss muscular dystrophy 1, X-linked + + + + EDMD1 + + @@ -128538,6 +148350,12 @@ myotubular myopathy, X-linked myopathy, centronuclear, X-linked + + + + CNMX + + @@ -128561,6 +148379,12 @@ xmea myopathy, x-linked, with excessive autophagy + + + + MEAX + + @@ -128587,6 +148411,12 @@ myopia 1, X-linked myopia 1, X-linked + + + + MYP1 + + @@ -128597,6 +148427,12 @@ n syndrome n syndrome + + + + NSX + + @@ -128610,6 +148446,12 @@ urolithiasis, X-linked recessive, type 1 nephrolithiasis, X-linked recessive, with renal failure + + + + XRN + + @@ -128634,6 +148476,12 @@ neuropathy, axonal motor-sensory, with deafness and mental retardation charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia + + + + CMTX4 + + @@ -128663,6 +148511,12 @@ This term has one or more labels that end with ', INCLUDED'. night blindness, congenital stationary, type 1a + + + + CSNB1A + + @@ -128675,6 +148529,12 @@ norrie disease norrie disease + + + + ND + + @@ -128685,6 +148545,12 @@ nuclear ribonucleic acid nuclear ribonucleic acid + + + + nRNA + + @@ -128702,6 +148568,12 @@ This term has one or more labels that end with ', INCLUDED'. nystagmus 1, congenital, X-linked + + + + NYS1 + + @@ -128749,6 +148621,12 @@ ophthalmoplegia, external, and myopia ophthalmoplegia, external, and myopia + + + + OPEM + + @@ -128776,6 +148654,12 @@ optic atrophy, non-leber type, with early onset optic atrophy 2 + + + + OPA2 + + @@ -128790,6 +148674,12 @@ rosenberg-chutorian syndrome charcot-marie-tooth disease, X-linked recessive, 5 + + + + CMTX5 + + @@ -128822,6 +148712,12 @@ papillon-leage and psaume syndrome orofaciodigital syndrome 1 + + + + OFD1 + + @@ -128878,6 +148774,12 @@ This term has one or more labels that end with ', INCLUDED'. otopalatodigital syndrome, type 1 + + + + OPD1 + + @@ -128888,6 +148790,12 @@ ouabain resistance ouabain resistance + + + + OUBR + + @@ -128904,6 +148812,12 @@ primary ovarian insufficiency, fragile x-associated premature ovarian failure 1 + + + + POF1 + + @@ -128939,6 +148853,12 @@ wsn waisman syndrome + + + + WSMN + + @@ -129003,6 +148923,12 @@ This term has one or more labels that end with ', INCLUDED'. PIGA + + + + PIGA + + @@ -129031,6 +148957,12 @@ PGK1 + + + + PGK1 + + @@ -129080,6 +149012,12 @@ phosphoribosylpyrophosphate synthetase 1 PRPS1 + + + + PRPS1 + + @@ -129103,6 +149041,12 @@ PHKA1 + + + + PHKA1 + + @@ -129136,6 +149080,12 @@ tarp syndrome tarp syndrome + + + + TARPS + + @@ -129147,6 +149097,12 @@ pituitary dwarfism iv, formerly panhypopituitarism, X-linked + + + + PHPX + + @@ -129187,6 +149143,12 @@ polymerase, dna, alpha-1 POLA1 + + + + POLA1 + + @@ -129215,6 +149177,12 @@ This term has one or more labels that end with ', INCLUDED'. properdin deficiency, X-linked + + + + CFPD + + @@ -129227,6 +149195,12 @@ pelizaeus-merzbacher disease pelizaeus-merzbacher disease + + + + PMD + + @@ -129277,6 +149251,12 @@ This term has one or more labels that end with ', INCLUDED'. pyruvate dehydrogenase e1-alpha deficiency + + + + PDHAD + + @@ -129306,6 +149286,12 @@ ribosomal protein l10 RPL10 + + + + RPL10 + + @@ -129332,6 +149318,12 @@ UBE2A + + + + UBE2A + + @@ -129374,6 +149366,12 @@ reifenstein syndrome androgen insensitivity, partial + + + + PAIS + + @@ -129430,6 +149428,12 @@ retinal dysplasia, primary retinal dysplasia, primary + + + + PRD + + @@ -129453,6 +149457,12 @@ retinitis pigmentosa 2 retinitis pigmentosa 2 + + + + RP2 + + @@ -129493,6 +149503,12 @@ retinitis pigmentosa gtpase regulator RPGR + + + + RPGR + + @@ -129511,6 +149527,12 @@ retinitis pigmentosa, X-linked recessive, 6 retinitis pigmentosa 6 + + + + RP6 + + @@ -129535,6 +149557,12 @@ xlrs1 retinoschisis 1, x-linked, juvenile + + + + RS1 + + @@ -129551,6 +149579,12 @@ This term has one or more labels that end with ', INCLUDED'. rett syndrome + + + + RTT + + @@ -129598,6 +149632,12 @@ SSX1 + + + + SSX1 + + @@ -129641,6 +149681,12 @@ xcid combined immunodeficiency, X-linked + + + + CIDX + + @@ -129676,6 +149722,12 @@ short stature homeobox SHOX + + + + SHOX + + @@ -129691,6 +149743,12 @@ simpson-golabi-behmel syndrome, type 1 simpson-golabi-behmel syndrome, type 1 + + + + SGBS1 + + @@ -129730,6 +149788,12 @@ sppx2 spastic paraplegia 2, X-linked + + + + SPG2 + + @@ -129772,6 +149836,12 @@ spinal and bulbar muscular atrophy, X-linked 1 spinal and bulbar muscular atrophy, X-linked 1 + + + + SMAX1 + + @@ -129792,6 +149862,12 @@ split-hand/split-foot anomaly, X-linked split-hand/foot malformation 2 + + + + SHFM2 + + @@ -129816,6 +149892,12 @@ spondyloepiphyseal dysplasia, late spondyloepiphyseal dysplasia tarda, X-linked + + + + SEDT + + @@ -129828,6 +149910,12 @@ spondylometaphyseal dysplasia, richmond type spondylometaphyseal dysplasia, X-linked + + + + SMDXL + + @@ -129857,6 +149945,12 @@ sry-related hmg-box gene 3 SOX3 + + + + SOX3 + + @@ -129886,6 +149980,12 @@ synapsin 1 SYN1 + + + + SYN1 + + @@ -129929,6 +150029,12 @@ SYP + + + + SYP + + @@ -129939,6 +150045,12 @@ taqi polymorphism taqi polymorphism + + + + TAQ1 + + @@ -129949,6 +150061,12 @@ taurodontism, microdontia, and dens invaginatus taurodontism, microdontia, and dens invaginatus + + + + TMDI + + @@ -129961,6 +150079,12 @@ tooth agenesis, selective, x-linked, 1 tooth agenesis, selective, x-linked, 1 + + + + STHAGX1 + + @@ -130009,6 +150133,12 @@ This term has one or more labels that end with ', INCLUDED'. TAF1 + + + + TAF1 + + @@ -130065,6 +150195,12 @@ nuclear receptor subfamily 3, group c, member 4 AR + + + + AR + + @@ -130085,6 +150221,12 @@ This term has one or more labels that end with ', INCLUDED'. thoracoabdominal syndrome + + + + THAS + + @@ -130101,6 +150243,12 @@ This term has one or more labels that end with ', INCLUDED'. thrombocytopenia 1 + + + + THC1 + + @@ -130121,6 +150269,12 @@ thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis thrombocytopenia with beta-thalassemia, X-linked + + + + XLTT + + @@ -130157,6 +150311,12 @@ TBG + + + + TBG + + @@ -130179,6 +150339,12 @@ torsion dystonia-parkinsonism, filipino type dystonia 3, torsion, X-linked + + + + DYT3 + + @@ -130198,6 +150364,12 @@ torticollis, keloids, cryptorchidism, and renal dysplasia torticollis, keloids, cryptorchidism, and renal dysplasia + + + + TKCR + + @@ -130231,6 +150403,12 @@ This term has one or more labels that end with ', INCLUDED'. TFE3 + + + + TFE3 + + @@ -130295,6 +150473,12 @@ This term has one or more labels that end with ', INCLUDED'. UBA1 + + + + UBA1 + + @@ -130322,6 +150506,12 @@ SLC35A2 + + + + SLC35A2 + + @@ -130342,6 +150532,12 @@ vacterl-h, X-linked vacterl association, x-linked, with or without hydrocephalus + + + + VACTERLX + + @@ -130355,6 +150551,12 @@ valvular heart disease, congenital cardiac valvular dysplasia, X-linked + + + + CVDPX + + @@ -130374,6 +150576,12 @@ vesicoureteral reflux, X-linked vesicoureteral reflux, X-linked + + + + VURX + + @@ -130419,6 +150627,12 @@ wieacker-wolff syndrome wieacker-wolff syndrome + + + + WRWF + + @@ -130454,6 +150668,12 @@ XIST + + + + XIST + + @@ -130482,6 +150702,12 @@ KDM5C + + + + KDM5C + + @@ -130499,6 +150725,12 @@ xg blood group system blood group, 10g system + + + + XG + + @@ -130522,6 +150754,12 @@ xg regulator XGR + + + + XGR + + @@ -130558,6 +150796,12 @@ XK + + + + XK + + @@ -130620,6 +150864,12 @@ ZFX + + + + ZFX + + @@ -130645,6 +150895,12 @@ ZNF711 + + + + ZNF711 + + @@ -130698,6 +150954,12 @@ retinitis pigmentosa, Y-linked retinitis pigmentosa, Y-linked + + + + RPY + + @@ -130722,6 +150984,12 @@ USP9Y + + + + USP9Y + + @@ -130764,6 +151032,12 @@ short stature homeobox, Y-linked SHOXY + + + + SHOXY + + @@ -130814,6 +151088,12 @@ TBL1Y + + + + TBL1Y + + @@ -130837,6 +151117,12 @@ This term has one or more labels that end with ', INCLUDED'. spermatogenic failure, y-linked, 1 + + + + SPGFY1 + + @@ -130854,6 +151140,12 @@ deafness, Y-linked 1 deafness, Y-linked 1 + + + + DFNY1 + + @@ -130871,6 +151163,12 @@ This term has one or more labels that end with ', INCLUDED'. 46,xy sex reversal 1 + + + + SRXY1 + + @@ -130889,6 +151187,12 @@ This term has one or more labels that end with ', INCLUDED'. 46,xx sex reversal 1 + + + + SRXX1 + + @@ -130912,6 +151216,12 @@ deafness, Y-linked 2 deafness, Y-linked 2 + + + + DFNY2 + + @@ -130943,6 +151253,12 @@ This term has one or more labels that end with ', INCLUDED'. spermatogenic failure, y-linked, 2 + + + + SPGFY2 + + @@ -130963,6 +151279,12 @@ gonadoblastoma gonadoblastoma + + + + GBY + + @@ -130991,6 +151313,12 @@ tooth size growth control, y-chromosome influenced + + + + GCY + + @@ -131021,6 +151349,12 @@ testis-determining factor on y SRY + + + + SRY + + @@ -131129,6 +151463,12 @@ This term has one or more labels that end with ', INCLUDED'. cyclic vomiting syndrome + + + + CVS + + @@ -131151,6 +151491,12 @@ respiratory chain deficiency, infantile, transient mitochondrial myopathy, infantile, transient + + + + MMIT + + @@ -131170,6 +151516,12 @@ myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia 3 + + + + MLASA3 + + @@ -131180,6 +151532,12 @@ charcot-marie-tooth disease, axonal, mitochondrial form, 1 charcot-marie-tooth disease, axonal, mitochondrial form, 1 + + + + CMTMA1 + + @@ -131190,6 +151548,12 @@ mitochondrial complex 1 deficiency, mitochondrial type 1 mitochondrial complex 1 deficiency, mitochondrial type 1 + + + + MC1DM1 + + @@ -131200,6 +151564,12 @@ mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 + + + + MC5DM1 + + @@ -131210,6 +151580,12 @@ leigh syndrome, mitochondrial leigh syndrome, mitochondrial + + + + MILS + + @@ -131265,6 +151641,12 @@ noninsulin-dependent diabetes mellitus with deafness diabetes and deafness, maternally inherited + + + + MIDD + + @@ -131292,6 +151674,12 @@ ophthalmoplegia-plus syndrome kearns-sayre syndrome + + + + KSS + + @@ -131313,6 +151701,12 @@ mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes + + + + MELAS + + @@ -131324,6 +151718,12 @@ myoclonic epilepsy associated with ragged-red fibers myoclonic epilepsy associated with ragged-red fibers + + + + MERRF + + @@ -131361,6 +151761,12 @@ mitochondrial myopathy, lethal, infantile mitochondrial myopathy, lethal, infantile + + + + LIMM + + @@ -131470,6 +151876,12 @@ pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease heart defects, congenital, and other congenital anomalies + + + + HDCA + + @@ -131482,6 +151894,12 @@ eiken syndrome eiken syndrome + + + + EKNS + + @@ -131508,6 +151926,12 @@ CACNB2 + + + + CACNB2 + + @@ -131539,6 +151963,12 @@ mhc class 2 transactivator CIITA + + + + CIITA + + @@ -131563,6 +151993,12 @@ FLT3LG + + + + FLT3LG + + @@ -131579,6 +152015,12 @@ nicotinamide n-methyltransferase NNMT + + + + NNMT + + @@ -131610,6 +152052,12 @@ tyro11 EPHB4 + + + + EPHB4 + + @@ -131634,6 +152082,12 @@ YY1 + + + + YY1 + + @@ -131666,6 +152120,12 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 2 SMARCA2 + + + + SMARCA2 + + @@ -131698,6 +152158,12 @@ CNTN1 + + + + CNTN1 + + @@ -131721,6 +152187,12 @@ CYB561 + + + + CYB561 + + @@ -131743,6 +152215,12 @@ max-interacting protein 1 MXI1 + + + + MXI1 + + @@ -131773,6 +152251,12 @@ ob-cadherin CDH11 + + + + CDH11 + + @@ -131814,6 +152298,12 @@ lmn2r LBR + + + + LBR + + @@ -131842,6 +152332,12 @@ distal-less homeobox 5 DLX5 + + + + DLX5 + + @@ -131868,6 +152364,12 @@ CHIT1 + + + + CHIT1 + + @@ -131900,6 +152402,12 @@ EMX2 + + + + EMX2 + + @@ -131929,6 +152437,12 @@ orthodenticle, drosophila, homolog of, 2 OTX2 + + + + OTX2 + + @@ -131957,6 +152471,12 @@ bcl2-associated 10 protein BAX + + + + BAX + + @@ -131996,6 +152516,12 @@ tpo THPO + + + + THPO + + @@ -132020,6 +152546,12 @@ DDB1 + + + + DDB1 + + @@ -132052,6 +152584,12 @@ cholesterol efflux regulatory protein ABCA1 + + + + ABCA1 + + @@ -132079,6 +152617,12 @@ ABCA2 + + + + ABCA2 + + @@ -132113,6 +152657,12 @@ CNGA3 + + + + CNGA3 + + @@ -132150,6 +152700,12 @@ This term has one or more labels that end with ', INCLUDED'. bladder exstrophy and epispadias complex + + + + BEEC + + @@ -132173,6 +152729,12 @@ retinitis pigmentosa 13 retinitis pigmentosa 13 + + + + RP13 + + @@ -132185,6 +152747,12 @@ neurosensory nonsyndromic recessive deafness 2 deafness, autosomal recessive 2 + + + + DFNB2 + + @@ -132211,6 +152779,12 @@ ITGB2 + + + + ITGB2 + + @@ -132230,6 +152804,12 @@ insomnia, fatal familial fatal familial insomnia + + + + FFI + + @@ -132255,6 +152835,12 @@ LRP2 + + + + LRP2 + + @@ -132284,6 +152870,12 @@ tata box-binding protein TBP + + + + TBP + + @@ -132326,6 +152918,12 @@ PTPN12 + + + + PTPN12 + + @@ -132361,6 +152959,12 @@ vitamin d-dependent rickets, type 1b vitamin d hydroxylation-deficient rickets, type 1b + + + + VDDR1B + + @@ -132371,6 +152975,12 @@ prostatic hyperplasia, benign prostatic hyperplasia, benign + + + + BPH + + @@ -132412,6 +153022,12 @@ SYK + + + + SYK + + @@ -132435,6 +153051,12 @@ TUFT1 + + + + TUFT1 + + @@ -132500,6 +153122,12 @@ nivelon-nivelon-mabille syndrome nivelon-nivelon-mabille syndrome + + + + NNMS + + @@ -132569,6 +153197,12 @@ teratocarcinoma oncogene tc21 RRAS2 + + + + RRAS2 + + @@ -132609,6 +153243,12 @@ deafness, autosomal dominant 2a deafness, autosomal dominant 2a + + + + DFNA2A + + @@ -132646,6 +153286,12 @@ synaptotagmin 2 SYT2 + + + + SYT2 + + @@ -132660,6 +153306,12 @@ rp with or without preserved paraarteriole retinal pigment epithelium retinitis pigmentosa 12 + + + + RP12 + + @@ -132698,6 +153350,12 @@ matrix metalloproteinase 13 MMP13 + + + + MMP13 + + @@ -132719,6 +153377,12 @@ stargardt-like macular dystrophy, autosomal dominant stargardt disease 3 + + + + STGD3 + + @@ -132746,6 +153410,12 @@ SLC1A3 + + + + SLC1A3 + + @@ -132784,6 +153454,12 @@ dynein, cytoplasmic-like DYNC1H1 + + + + DYNC1H1 + + @@ -132814,6 +153490,12 @@ parkinsonism, early-onset, with diurnal fluctuation parkinson disease 2, autosomal recessive juvenile + + + + PARK2 + + @@ -132836,6 +153518,12 @@ warburg micro syndrome 1 warburg micro syndrome 1 + + + + WARBM1 + + @@ -132863,6 +153551,12 @@ SGCA + + + + SGCA + + @@ -132898,6 +153592,12 @@ rhizomelic chondrodysplasia punctata, type 3 rhizomelic chondrodysplasia punctata, type 3 + + + + RCDP3 + + @@ -132949,6 +153649,12 @@ This term has one or more labels that end with ', INCLUDED'. HNRNPA2B1 + + + + HNRNPA2B1 + + @@ -132983,6 +153689,12 @@ PDE4D + + + + PDE4D + + @@ -133000,6 +153712,12 @@ epilepsy, childhood absence, susceptibility to, 1 epilepsy, childhood absence, susceptibility to, 1 + + + + ECA1 + + @@ -133011,6 +153729,12 @@ retinitis pigmentosa 14 retinitis pigmentosa 14 + + + + RP14 + + @@ -133035,6 +153759,12 @@ LAMA4 + + + + LAMA4 + + @@ -133067,6 +153797,12 @@ retinitis pigmentosa 11 retinitis pigmentosa 11 + + + + RP11 + + @@ -133107,6 +153843,12 @@ This term has one or more labels that end with ', INCLUDED'. CREBBP + + + + CREBBP + + @@ -133121,6 +153863,12 @@ subcortical vascular encephalopathy, progressive cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy + + + + CARASIL + + @@ -133132,6 +153880,12 @@ ceroid lipofuscinosis, neuronal, 8 ceroid lipofuscinosis, neuronal, 8 + + + + CLN8 + + @@ -133155,6 +153909,12 @@ ITPR2 + + + + ITPR2 + + @@ -133204,6 +153964,12 @@ MEOX1 + + + + MEOX1 + + @@ -133216,6 +153982,12 @@ glycerol kinase, testicular, type B glycerol kinase 3 pseudogene + + + + GK3P + + @@ -133259,6 +154031,12 @@ slowpoke, drosophila, homolog of KCNMA1 + + + + KCNMA1 + + @@ -133270,6 +154048,12 @@ bardet-biedl syndrome 3 bardet-biedl syndrome 3 + + + + BBS3 + + @@ -133293,6 +154077,12 @@ PIGF + + + + PIGF + + @@ -133316,6 +154106,12 @@ PIGH + + + + PIGH + + @@ -133327,6 +154123,12 @@ hirschsprung disease, susceptibility to, 2 hirschsprung disease, susceptibility to, 2 + + + + HSCR2 + + @@ -133344,6 +154146,12 @@ hirschsprung disease, susceptibility to, 5 hirschsprung disease, susceptibility to, 5 + + + + HSCR5 + + @@ -133370,6 +154178,12 @@ AP1B1 + + + + AP1B1 + + @@ -133433,6 +154247,12 @@ This term has one or more labels that end with ', INCLUDED'. CDKN2A + + + + CDKN2A + + @@ -133511,6 +154331,12 @@ sodium voltage-gated channel, alpha subunit 5 SCN5A + + + + SCN5A + + @@ -133532,6 +154358,12 @@ nanophthalmos, autosomal dominant nanophthalmos 1 + + + + NNO1 + + @@ -133567,6 +154399,12 @@ MST1R + + + + MST1R + + @@ -133590,6 +154428,12 @@ AQP3 + + + + AQP3 + + @@ -133624,6 +154468,12 @@ JAK3 + + + + JAK3 + + @@ -133639,6 +154489,12 @@ spinal muscular atrophy, distal, congenital nonprogressive neuronopathy, distal hereditary motor, autosomal dominant 8 + + + + HMND8 + + @@ -133704,6 +154560,12 @@ rod outer segment membrane guanylate cyclase GUCY2D + + + + GUCY2D + + @@ -133736,6 +154598,12 @@ CRAT + + + + CRAT + + @@ -133802,6 +154670,12 @@ fancd1 gene BRCA2 + + + + BRCA2 + + @@ -133834,6 +154708,12 @@ EIF5A + + + + EIF5A + + @@ -133865,6 +154745,12 @@ This term has one or more labels that end with ', INCLUDED'. SS18 + + + + SS18 + + @@ -133882,6 +154768,12 @@ waardenburg syndrome, type 2b waardenburg syndrome, type 2b + + + + WS2B + + @@ -133909,6 +154801,12 @@ KRT2 + + + + KRT2 + + @@ -133920,6 +154818,12 @@ vmcm1 venous malformations, multiple cutaneous and mucosal + + + + VMCM + + @@ -133979,6 +154883,12 @@ asp ASIP + + + + ASIP + + @@ -133996,6 +154906,12 @@ reading disability, specific, 2 dyslexia, susceptibility to, 2 + + + + DYX2 + + @@ -134016,6 +154932,12 @@ epiphyseal dysplasia, multiple, 2 epiphyseal dysplasia, multiple, 2 + + + + EDM2 + + @@ -134047,6 +154969,12 @@ EPS8 + + + + EPS8 + + @@ -134073,6 +155001,12 @@ exostoses, multiple, type 3 exostoses, multiple, type 3 + + + + EXT3 + + @@ -134105,6 +155039,12 @@ runt-related transcription factor 2 RUNX2 + + + + RUNX2 + + @@ -134177,6 +155117,12 @@ phospholipase c, phosphatidylinositol-specific PLCG2 + + + + PLCG2 + + @@ -134206,6 +155152,12 @@ tek tyrosine kinase, endothelial TEK + + + + TEK + + @@ -134231,6 +155183,12 @@ TIE1 + + + + TIE1 + + @@ -134243,6 +155201,12 @@ spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy spinocerebellar ataxia 4 + + + + SCA4 + + @@ -134254,6 +155218,12 @@ spinocerebellar ataxia 5 spinocerebellar ataxia 5 + + + + SCA5 + + @@ -134282,6 +155252,12 @@ gtp cyclohydrolase 1 GCH1 + + + + GCH1 + + @@ -134314,6 +155290,12 @@ CCNF + + + + CCNF + + @@ -134351,6 +155333,12 @@ sodium channel, nonvoltage-gated 1, alpha subunit SCNN1A + + + + SCNN1A + + @@ -134375,6 +155363,12 @@ SLC1A4 + + + + SLC1A4 + + @@ -134398,6 +155392,12 @@ PLCB3 + + + + PLCB3 + + @@ -134420,6 +155420,12 @@ palmoplantar keratoderma, bothnian type palmoplantar keratoderma, bothnian type + + + + PPKB + + @@ -134444,6 +155450,12 @@ GABRB2 + + + + GABRB2 + + @@ -134470,6 +155482,12 @@ HMGCS2 + + + + HMGCS2 + + @@ -134511,6 +155529,12 @@ sodium voltage-gated channel, beta subunit 1 SCN1B + + + + SCN1B + + @@ -134535,6 +155559,12 @@ CENPF + + + + CENPF + + @@ -134559,6 +155589,12 @@ TGM3 + + + + TGM3 + + @@ -134589,6 +155625,12 @@ programmed cell death 1 PDCD1 + + + + PDCD1 + + @@ -134609,6 +155651,12 @@ oculomaxillofacial dysplasia with oblique facial clefts facial clefting, oblique, 1 + + + + OBLFC1 + + @@ -134641,6 +155689,12 @@ AHR + + + + AHR + + @@ -134714,6 +155768,12 @@ postmeiotic segregation increased, s. cerevisiae, 2 PMS2 + + + + PMS2 + + @@ -134779,6 +155839,12 @@ solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 SLC11A1 + + + + SLC11A1 + + @@ -134790,6 +155856,12 @@ oculoectodermal syndrome oculoectodermal syndrome + + + + OES + + @@ -134800,6 +155872,12 @@ short tarsus with absence of lower eyelashes short tarsus with absence of lower eyelashes + + + + STALE + + @@ -134824,6 +155902,12 @@ DSC3 + + + + DSC3 + + @@ -134842,6 +155926,12 @@ tuberous sclerosis/polycystic kidney disease contiguous gene syndrome polycystic kidney disease, infantile severe, with tuberous sclerosis + + + + PKDTS + + @@ -134864,6 +155954,12 @@ This term has one or more labels that end with ', INCLUDED'. frontotemporal dementia 1 + + + + FTD1 + + @@ -134893,6 +155989,12 @@ notch, drosophila, homolog of, 2 NOTCH2 + + + + NOTCH2 + + @@ -134928,6 +156030,12 @@ notch, drosophila, homolog of, 3 NOTCH3 + + + + NOTCH3 + + @@ -134956,6 +156064,12 @@ PEX19 + + + + PEX19 + + @@ -134993,6 +156107,12 @@ transcription factor 14, hepatic nuclear factor HNF4A + + + + HNF4A + + @@ -135031,6 +156151,12 @@ pi4kiii-alpha PI4KA + + + + PI4KA + + @@ -135066,6 +156192,12 @@ glycyl-trna synthetase 1 GARS1 + + + + GARS1 + + @@ -135099,6 +156231,12 @@ ADCY3 + + + + ADCY3 + + @@ -135134,6 +156272,12 @@ adenylyl cyclase 5 ADCY5 + + + + ADCY5 + + @@ -135158,6 +156302,12 @@ ADCY6 + + + + ADCY6 + + @@ -135184,6 +156334,12 @@ LMX1A + + + + LMX1A + + @@ -135213,6 +156369,12 @@ SLC1A2 + + + + SLC1A2 + + @@ -135238,6 +156400,12 @@ ACADSB + + + + ACADSB + + @@ -135281,6 +156449,12 @@ AQP4 + + + + AQP4 + + @@ -135325,6 +156499,12 @@ thrombospondin 5 COMP + + + + COMP + + @@ -135360,6 +156540,12 @@ TNFRSF4 + + + + TNFRSF4 + + @@ -135384,6 +156570,12 @@ neurosensory nonsyndromic recessive deafness 3 deafness, autosomal recessive 3 + + + + DFNB3 + + @@ -135407,6 +156599,12 @@ TPM4 + + + + TPM4 + + @@ -135425,6 +156623,12 @@ type 1 diabetes mellitus 3 type 1 diabetes mellitus 3 + + + + T1D3 + + @@ -135443,6 +156647,12 @@ type 1 diabetes mellitus 4 type 1 diabetes mellitus 4 + + + + T1D4 + + @@ -135467,6 +156677,12 @@ type 1 diabetes mellitus 5 type 1 diabetes mellitus 5 + + + + T1D5 + + @@ -135485,6 +156701,12 @@ type 1 diabetes mellitus 7 type 1 diabetes mellitus 7 + + + + T1D7 + + @@ -135510,6 +156732,12 @@ SNAP25 + + + + SNAP25 + + @@ -135521,6 +156749,12 @@ pseudoaminopterin syndrome aminopterin syndrome sine aminopterin + + + + ASSA + + @@ -135548,6 +156782,12 @@ DDX6 + + + + DDX6 + + @@ -135592,6 +156832,12 @@ rippling muscle disease 1 rippling muscle disease 1 + + + + RMD1 + + @@ -135613,6 +156859,12 @@ udd myopathy tibial muscular dystrophy, tardive + + + + TMD + + @@ -135646,6 +156898,12 @@ SLC18A3 + + + + SLC18A3 + + @@ -135670,6 +156928,12 @@ RGR + + + + RGR + + @@ -135680,6 +156944,12 @@ parotid salivary glands, polycystic dysgenetic disease of parotid salivary glands, polycystic dysgenetic disease of + + + + PDDP + + @@ -135714,6 +156984,12 @@ PCGF2 + + + + PCGF2 + + @@ -135736,6 +157012,12 @@ band heterotopia band heterotopia + + + + BH + + @@ -135805,6 +157087,12 @@ t-bcd541 SMN1 + + + + SMN1 + + @@ -135839,6 +157127,12 @@ KCNJ1 + + + + KCNJ1 + + @@ -135894,6 +157188,12 @@ FLII + + + + FLII + + @@ -135918,6 +157218,12 @@ spastic paraplegia 6, autosomal dominant spastic paraplegia 6, autosomal dominant + + + + SPG6 + + @@ -135942,6 +157248,12 @@ guanylin 1, retina GUCA1A + + + + GUCA1A + + @@ -135975,6 +157287,12 @@ SLC25A3 + + + + SLC25A3 + + @@ -136028,6 +157346,12 @@ BBS4 + + + + BBS4 + + @@ -136063,6 +157387,12 @@ x-ray repair, complementing defective, 1n chinese hamster, 2 XRCC2 + + + + XRCC2 + + @@ -136088,6 +157418,12 @@ This term has one or more labels that end with ', INCLUDED'. telangiectasia, hereditary hemorrhagic, type 2 + + + + HHT2 + + @@ -136148,6 +157484,12 @@ KCNB1 + + + + KCNB1 + + @@ -136219,6 +157561,12 @@ pts1 receptor PEX5 + + + + PEX5 + + @@ -136245,6 +157593,12 @@ TTPA + + + + TTPA + + @@ -136280,6 +157634,12 @@ NT5C2 + + + + NT5C2 + + @@ -136327,6 +157687,12 @@ endothelin-converting enzyme 1 ECE1 + + + + ECE1 + + @@ -136358,6 +157724,12 @@ solute carrier family 19 (folate transporter), member 1 SLC19A1 + + + + SLC19A1 + + @@ -136397,6 +157769,12 @@ i-beta-1,6-n-acetylglucosaminyltransferase GCNT2 + + + + GCNT2 + + @@ -136443,6 +157821,12 @@ TFAM + + + + TFAM + + @@ -136469,6 +157853,12 @@ SSBP1 + + + + SSBP1 + + @@ -136492,6 +157882,12 @@ AQP5 + + + + AQP5 + + @@ -136518,6 +157914,12 @@ AKR1C2 + + + + AKR1C2 + + @@ -136545,6 +157947,12 @@ AKR1C4 + + + + AKR1C4 + + @@ -136582,6 +157990,12 @@ tyrosine kinase receptor B NTRK2 + + + + NTRK2 + + @@ -136653,6 +158067,12 @@ myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia 1 + + + + MLASA1 + + @@ -136679,6 +158099,12 @@ ALDH1A3 + + + + ALDH1A3 + + @@ -136703,6 +158129,12 @@ ANK3 + + + + ANK3 + + @@ -136759,6 +158191,12 @@ zinc finger protein of cerebellum 1 ZIC1 + + + + ZIC1 + + @@ -136783,6 +158221,12 @@ PURA + + + + PURA + + @@ -136818,6 +158262,12 @@ superkiller viralicidic activity 2, s. cerevisiae, homolog-like SKIC2 + + + + SKIC2 + + @@ -136857,6 +158307,12 @@ This term has one or more labels that end with ', INCLUDED'. TCF12 + + + + TCF12 + + @@ -136889,6 +158345,12 @@ FGF8 + + + + FGF8 + + @@ -136940,6 +158402,12 @@ NFATC2 + + + + NFATC2 + + @@ -136965,6 +158433,12 @@ NFE2L2 + + + + NFE2L2 + + @@ -136991,6 +158465,12 @@ EIF4G1 + + + + EIF4G1 + + @@ -137002,6 +158482,12 @@ mody, type 3 maturity-onset diabetes of the young, type 3 + + + + MODY3 + + @@ -137039,6 +158525,12 @@ albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness abcd syndrome + + + + ABCDS + + @@ -137069,6 +158561,12 @@ smubp2 IGHMBP2 + + + + IGHMBP2 + + @@ -137135,6 +158633,12 @@ sur1 ABCC8 + + + + ABCC8 + + @@ -137154,6 +158658,12 @@ pigment dispersion syndrome ocular pigment dispersion with or without glaucoma + + + + OPDG + + @@ -137178,6 +158688,12 @@ schizophrenia susceptibility locus, chromosome 6-related schizophrenia 3 + + + + SCZD3 + + @@ -137203,6 +158719,12 @@ epilepsy, partial, with auditory features epilepsy, familial temporal lobe, 1 + + + + ETL1 + + @@ -137214,6 +158736,12 @@ epilepsy, nocturnal frontal lobe, 1 epilepsy, nocturnal frontal lobe, 1 + + + + ENFL1 + + @@ -137243,6 +158771,12 @@ rl RELN + + + + RELN + + @@ -137268,6 +158802,12 @@ P2RY12 + + + + P2RY12 + + @@ -137293,6 +158833,12 @@ MASP1 + + + + MASP1 + + @@ -137318,6 +158864,12 @@ PLA2G4A + + + + PLA2G4A + + @@ -137344,6 +158896,12 @@ SLC11A2 + + + + SLC11A2 + + @@ -137372,6 +158930,12 @@ distal-less homeobox 3 DLX3 + + + + DLX3 + + @@ -137398,6 +158962,12 @@ CPT1A + + + + CPT1A + + @@ -137422,6 +158992,12 @@ AUH + + + + AUH + + @@ -137446,6 +159022,12 @@ NDUFV2 + + + + NDUFV2 + + @@ -137476,6 +159058,12 @@ VANGL2 + + + + VANGL2 + + @@ -137499,6 +159087,12 @@ ITGA7 + + + + ITGA7 + + @@ -137523,6 +159117,12 @@ RECQL + + + + RECQL + + @@ -137554,6 +159154,12 @@ NR4A3 + + + + NR4A3 + + @@ -137580,6 +159186,12 @@ ERBB4 + + + + ERBB4 + + @@ -137631,6 +159243,12 @@ mortalin, perinuclear HSPA9 + + + + HSPA9 + + @@ -137665,6 +159283,12 @@ signal transducer and activator of transcription 1 STAT1 + + + + STAT1 + + @@ -137693,6 +159317,12 @@ signal transducer and activator of transcription 2 STAT2 + + + + STAT2 + + @@ -137730,6 +159360,12 @@ signal transducer and activator of transcription 4 STAT4 + + + + STAT4 + + @@ -137777,6 +159413,12 @@ neurexin 1 NRXN1 + + + + NRXN1 + + @@ -137801,6 +159443,12 @@ NLGN1 + + + + NLGN1 + + @@ -137844,6 +159492,12 @@ clc2 CLCN2 + + + + CLCN2 + + @@ -137879,6 +159533,12 @@ re1-silencing transcription factor REST + + + + REST + + @@ -137913,6 +159573,12 @@ leucine zipper-like transcriptional regulator 1 LZTR1 + + + + LZTR1 + + @@ -137959,6 +159625,12 @@ gata-binding protein 4 GATA4 + + + + GATA4 + + @@ -137983,6 +159655,12 @@ LHX3 + + + + LHX3 + + @@ -138008,6 +159686,12 @@ PTPRO + + + + PTPRO + + @@ -138037,6 +159721,12 @@ clc3 CLCN3 + + + + CLCN3 + + @@ -138066,6 +159756,12 @@ ASPH + + + + ASPH + + @@ -138122,6 +159818,12 @@ nkx2.5, mouse, homolog of NKX2-5 + + + + NKX2-5 + + @@ -138157,6 +159859,12 @@ PPP1CB + + + + PPP1CB + + @@ -138173,6 +159881,12 @@ craniosynostosis, adelaide type craniosynostosis, adelaide type + + + + CRSA + + @@ -138217,6 +159931,12 @@ kruppel-like factor 1 KLF1 + + + + KLF1 + + @@ -138285,6 +160005,12 @@ P4HA2 + + + + P4HA2 + + @@ -138317,6 +160043,12 @@ STAR + + + + STAR + + @@ -138361,6 +160093,12 @@ This term has one or more labels that end with ', INCLUDED'. ETV6 + + + + ETV6 + + @@ -138396,6 +160134,12 @@ crd1 cone-rod dystrophy 1 + + + + CORD1 + + @@ -138411,6 +160155,12 @@ This term has one or more labels that end with ', INCLUDED'. orofacial cleft 11 + + + + OFC11 + + @@ -138434,6 +160184,12 @@ hypertryptophanemia, familial hypertryptophanemia + + + + HYPTRP + + @@ -138454,6 +160210,12 @@ uv-sensitive syndrome 1 uv-sensitive syndrome 1 + + + + UVSS1 + + @@ -138471,6 +160233,12 @@ enuresis, nocturnal, 1 enuresis, nocturnal, 1 + + + + ENUR1 + + @@ -138497,6 +160265,12 @@ OPCML + + + + OPCML + + @@ -138546,6 +160320,12 @@ ttf1 NKX2-1 + + + + NKX2-1 + + @@ -138558,6 +160338,12 @@ fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement + + + + CFEOM3A + + @@ -138583,6 +160369,12 @@ CASP2 + + + + CASP2 + + @@ -138628,6 +160420,12 @@ pvrr NECTIN1 + + + + NECTIN1 + + @@ -138700,6 +160498,12 @@ cpt 2 CPT2 + + + + CPT2 + + @@ -138710,6 +160514,12 @@ fragile site 11b fragile site 11b + + + + FRA11B + + @@ -138722,6 +160532,12 @@ deafness, autosomal dominant 4a deafness, autosomal dominant 4a + + + + DFNA4A + + @@ -138771,6 +160587,12 @@ MEF2A + + + + MEF2A + + @@ -138794,6 +160616,12 @@ myocyte enhancer factor 2c MEF2C + + + + MEF2C + + @@ -138828,6 +160656,12 @@ nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, kinase of, alpha CHUK + + + + CHUK + + @@ -138852,6 +160686,12 @@ polycystic kidney disease, adult, type 3 polycystic kidney disease 3 with or without polycystic liver disease + + + + PKD3 + + @@ -138876,6 +160716,12 @@ FZD2 + + + + FZD2 + + @@ -138894,6 +160740,12 @@ chondrocalcinosis with early-onset osteoarthritis chondrocalcinosis 1 + + + + CCAL1 + + @@ -138915,6 +160767,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized + + + + EIG + + @@ -138965,6 +160823,12 @@ UBTF + + + + UBTF + + @@ -139009,6 +160873,12 @@ x-ray repair, complementing defective, 1n chinese hamster, 3 XRCC3 + + + + XRCC3 + + @@ -139054,6 +160924,12 @@ muts, e. coli, homolog of, 6 MSH6 + + + + MSH6 + + @@ -139109,6 +160985,12 @@ potassium channel, inwardly rectifying, subfamily j, member 2 KCNJ2 + + + + KCNJ2 + + @@ -139144,6 +161026,12 @@ solute carrier family 16 (monocarboxylic acid transporter), member 1 SLC16A1 + + + + SLC16A1 + + @@ -139175,6 +161063,12 @@ TIAM1 + + + + TIAM1 + + @@ -139207,6 +161101,12 @@ TNNT3 + + + + TNNT3 + + @@ -139249,6 +161149,12 @@ interleukin 6 signal transducer IL6ST + + + + IL6ST + + @@ -139290,6 +161196,12 @@ HMGA2 + + + + HMGA2 + + @@ -139324,6 +161236,12 @@ This term has one or more labels that end with ', INCLUDED'. LPP + + + + LPP + + @@ -139354,6 +161272,12 @@ HMGA1 + + + + HMGA1 + + @@ -139396,6 +161320,12 @@ sodium voltage-gated channel, alpha subunit 8 SCN8A + + + + SCN8A + + @@ -139406,6 +161336,12 @@ ribosomal protein s1-like ribosomal protein s1-like + + + + RPS1L + + @@ -139461,6 +161397,12 @@ IARS1 + + + + IARS1 + + @@ -139493,6 +161435,12 @@ HNRNPK + + + + HNRNPK + + @@ -139517,6 +161465,12 @@ HSD11B1 + + + + HSD11B1 + + @@ -139554,6 +161508,12 @@ protein-tyrosine phosphatase, nonreceptor-type 8, formerly PTPN22 + + + + PTPN22 + + @@ -139583,6 +161543,12 @@ nosii-2 nitric oxide synthase 2 pseudogene 1 + + + + NOS2P1 + + @@ -139607,6 +161573,12 @@ d2hga d-2-hydroxyglutaric aciduria 1 + + + + D2HGA1 + + @@ -139631,6 +161603,12 @@ PPT1 + + + + PPT1 + + @@ -139659,6 +161637,12 @@ CNGB1 + + + + CNGB1 + + @@ -139700,6 +161684,12 @@ sonic hedgehog signaling molecule SHH + + + + SHH + + @@ -139729,6 +161719,12 @@ indian hedgehog signaling molecule IHH + + + + IHH + + @@ -139754,6 +161750,12 @@ NFIA + + + + NFIA + + @@ -139778,6 +161780,12 @@ NFIB + + + + NFIB + + @@ -139817,6 +161825,12 @@ somatostatin transcription factor 1 PDX1 + + + + PDX1 + + @@ -139849,6 +161863,12 @@ potassium channel, inwardly rectifying, subfamily j, member 5 KCNJ5 + + + + KCNJ5 + + @@ -139893,6 +161913,12 @@ hypocalciuric hypercalcemia, familial, type 3 hypocalciuric hypercalcemia, familial, type 3 + + + + HHC3 + + @@ -139925,6 +161951,12 @@ TBX2 + + + + TBX2 + + @@ -139955,6 +161987,12 @@ crp1 CEBPE + + + + CEBPE + + @@ -139981,6 +162019,12 @@ MMP14 + + + + MMP14 + + @@ -140004,6 +162048,12 @@ SYN2 + + + + SYN2 + + @@ -140031,6 +162081,12 @@ PTPA + + + + PTPA + + @@ -140049,6 +162105,12 @@ orofacial cleft 3 orofacial cleft 3 + + + + OFC3 + + @@ -140079,6 +162141,12 @@ stm2 PSEN2 + + + + PSEN2 + + @@ -140115,6 +162183,12 @@ sodium channel, nonvoltage-gated 1, beta subunit SCNN1B + + + + SCNN1B + + @@ -140151,6 +162225,12 @@ sodium channel, nonvoltage-gated 1, gamma subunit SCNN1G + + + + SCNN1G + + @@ -140162,6 +162242,12 @@ papillomavirus e5-like protein human papillomavirus e5 central sequence-like 1 + + + + HPVC1 + + @@ -140203,6 +162289,12 @@ MUC5B + + + + MUC5B + + @@ -140237,6 +162329,12 @@ TAF13 + + + + TAF13 + + @@ -140248,6 +162346,12 @@ craniosynostosis 4 craniosynostosis 4 + + + + CRS4 + + @@ -140284,6 +162388,12 @@ CDKN1B + + + + CDKN1B + + @@ -140336,6 +162446,12 @@ HARS2 + + + + HARS2 + + @@ -140346,6 +162462,12 @@ vitamin d-dependent rickets, type 2b, with normal vitamin d receptor vitamin d-dependent rickets, type 2b, with normal vitamin d receptor + + + + VDDR2B + + @@ -140357,6 +162479,12 @@ progressive bifocal chorioretinal atrophy chorioretinal atrophy, progressive bifocal + + + + PBCRA + + @@ -140382,6 +162510,12 @@ neurosensory nonsyndromic recessive deafness 4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct + + + + DFNB4 + + @@ -140400,6 +162534,12 @@ neurosensory nonsyndromic recessive deafness 5 deafness, autosomal recessive 5 + + + + DFNB5 + + @@ -140427,6 +162567,12 @@ spinal muscular atrophy, distal, with upper limb predominance neuronopathy, distal hereditary motor, autosomal dominant 5 + + + + HMND5 + + @@ -140454,6 +162600,12 @@ frontotemporal dementia, chromosome 3-linked frontotemporal dementia and/or amyotrophic lateral sclerosis 7 + + + + FTDALS7 + + @@ -140477,6 +162629,12 @@ IRS2 + + + + IRS2 + + @@ -140505,6 +162663,12 @@ bone morphogenetic protein receptor, type 2 BMPR2 + + + + BMPR2 + + @@ -140549,6 +162713,12 @@ gallbladder disease 1 gallbladder disease 1 + + + + GBD1 + + @@ -140574,6 +162744,12 @@ MTNR1B + + + + MTNR1B + + @@ -140613,6 +162789,12 @@ laminin, alpha-3 LAMA3 + + + + LAMA3 + + @@ -140667,6 +162849,12 @@ enuresis, nocturnal, 2 enuresis, nocturnal, 2 + + + + ENUR2 + + @@ -140705,6 +162893,12 @@ plc-beta-4 PLCB4 + + + + PLCB4 + + @@ -140729,6 +162923,12 @@ DDB2 + + + + DDB2 + + @@ -140757,6 +162957,12 @@ SRSF1 + + + + SRSF1 + + @@ -140781,6 +162987,12 @@ MRE11 + + + + MRE11 + + @@ -140811,6 +163023,12 @@ fragile x-related protein 1 FXR1 + + + + FXR1 + + @@ -140836,6 +163054,12 @@ ARCN1 + + + + ARCN1 + + @@ -140867,6 +163091,12 @@ lim domain protein, cardiac CSRP3 + + + + CSRP3 + + @@ -140893,6 +163123,12 @@ RORA + + + + RORA + + @@ -140918,6 +163154,12 @@ PDE6C + + + + PDE6C + + @@ -140944,6 +163186,12 @@ ATP5PO + + + + ATP5PO + + @@ -140968,6 +163216,12 @@ INPPL1 + + + + INPPL1 + + @@ -140993,6 +163247,12 @@ CXCL12 + + + + CXCL12 + + @@ -141016,6 +163276,12 @@ CRYBA2 + + + + CRYBA2 + + @@ -141039,6 +163305,12 @@ GDNF + + + + GDNF + + @@ -141068,6 +163340,12 @@ winged helix nude FOXN1 + + + + FOXN1 + + @@ -141092,6 +163370,12 @@ SLC12A1 + + + + SLC12A1 + + @@ -141128,6 +163412,12 @@ solute carrier family 12 (sodium/potassium/chloride transporter), member 2 SLC12A2 + + + + SLC12A2 + + @@ -141139,6 +163429,12 @@ prostatic carcinoma tumor-inducing gene 1 eukaryotic translation elongation factor 1 alpha-1-like 14 + + + + EEF1A1L14 + + @@ -141163,6 +163459,12 @@ GCKR + + + + GCKR + + @@ -141187,6 +163489,12 @@ P2RX2 + + + + P2RX2 + + @@ -141207,6 +163515,12 @@ schizophrenia susceptibility locus, chromosome 22q11-related schizophrenia 4 + + + + SCZD4 + + @@ -141234,6 +163548,12 @@ retinitis pigmentosa 17 retinitis pigmentosa 17 + + + + RP17 + + @@ -141259,6 +163579,12 @@ NDST1 + + + + NDST1 + + @@ -141295,6 +163621,12 @@ DYRK1A + + + + DYRK1A + + @@ -141325,6 +163657,12 @@ p57(kip2) CDKN1C + + + + CDKN1C + + @@ -141374,6 +163712,12 @@ succinate dehydrogenase complex, subunit a, flavoprotein SDHA + + + + SDHA + + @@ -141385,6 +163729,12 @@ cardiomyopathy, familial hypertrophic, 6 cardiomyopathy, familial hypertrophic, 6 + + + + CMH6 + + @@ -141410,6 +163760,12 @@ AIMP2 + + + + AIMP2 + + @@ -141433,6 +163789,12 @@ CSNK1D + + + + CSNK1D + + @@ -141462,6 +163824,12 @@ znf163 GFI1 + + + + GFI1 + + @@ -141500,6 +163868,12 @@ syntaxin 3 STX3 + + + + STX3 + + @@ -141525,6 +163899,12 @@ KCNJ6 + + + + KCNJ6 + + @@ -141546,6 +163926,12 @@ This term has one or more labels that end with ', INCLUDED'. budd-chiari syndrome + + + + BDCHS + + @@ -141570,6 +163956,12 @@ cataract, congenital zonular, with sutural opacities cataract 10, multiple types + + + + CTRCT10 + + @@ -141597,6 +163989,12 @@ hmsn 2b charcot-marie-tooth disease, axonal, type 2b + + + + CMT2B + + @@ -141615,6 +164013,12 @@ type 1 diabetes mellitus 8 type 1 diabetes mellitus 8 + + + + T1D8 + + @@ -141634,6 +164038,12 @@ cardiomyopathy, familial dilated, 1 cardiomyopathy, dilated, 1b + + + + CMD1B + + @@ -141655,6 +164065,12 @@ hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract + + + + HRFTC + + @@ -141686,6 +164102,12 @@ muts, e. coli, homolog of, 3 MSH3 + + + + MSH3 + + @@ -141718,6 +164140,12 @@ trifunctional protein, alpha subunit HADHA + + + + HADHA + + @@ -141769,6 +164197,12 @@ GJA8 + + + + GJA8 + + @@ -141793,6 +164227,12 @@ SOX11 + + + + SOX11 + + @@ -141821,6 +164261,12 @@ PRKDC + + + + PRKDC + + @@ -141845,6 +164291,12 @@ SGCB + + + + SGCB + + @@ -141869,6 +164321,12 @@ fanconi anemia, complementation group e fanconi anemia, complementation group e + + + + FANCE + + @@ -141949,6 +164407,12 @@ lanosterol synthase LSS + + + + LSS + + @@ -141983,6 +164447,12 @@ PPP1R3A + + + + PPP1R3A + + @@ -142029,6 +164499,12 @@ van den ende-gupta syndrome van den ende-gupta syndrome + + + + VDEGS + + @@ -142053,6 +164529,12 @@ FGF9 + + + + FGF9 + + @@ -142085,6 +164567,12 @@ This term has one or more labels that end with ', INCLUDED'. MYLK + + + + MYLK + + @@ -142113,6 +164601,12 @@ protoporphyrinogen oxidase PPOX + + + + PPOX + + @@ -142138,6 +164632,12 @@ GFER + + + + GFER + + @@ -142170,6 +164670,12 @@ susceptibility to colon cancer 1, mouse, homolog of PTPRJ + + + + PTPRJ + + @@ -142195,6 +164701,12 @@ NPRL3 + + + + NPRL3 + + @@ -142218,6 +164730,12 @@ CRYBB1 + + + + CRYBB1 + + @@ -142252,6 +164770,12 @@ HMMR + + + + HMMR + + @@ -142301,6 +164825,12 @@ potassium channel, inwardly rectifying, subfamily j, member 11 KCNJ11 + + + + KCNJ11 + + @@ -142326,6 +164856,12 @@ IL11RA + + + + IL11RA + + @@ -142350,6 +164886,12 @@ LIG3 + + + + LIG3 + + @@ -142394,6 +164936,12 @@ This term has one or more labels that end with ', INCLUDED'. SERPINH1 + + + + SERPINH1 + + @@ -142417,6 +164965,12 @@ DHPS + + + + DHPS + + @@ -142453,6 +165007,12 @@ This term has one or more labels that end with ', INCLUDED'. GHR + + + + GHR + + @@ -142497,6 +165057,12 @@ AMHR2 + + + + AMHR2 + + @@ -142522,6 +165088,12 @@ AMH + + + + AMH + + @@ -142550,6 +165122,12 @@ myosin-binding protein c, cardiac MYBPC3 + + + + MYBPC3 + + @@ -142575,6 +165153,12 @@ COPB1 + + + + COPB1 + + @@ -142601,6 +165185,12 @@ SET + + + + SET + + @@ -142624,6 +165214,12 @@ tylosis palmoplantar keratoderma, nonepidermolytic + + + + NEPPK + + @@ -142649,6 +165245,12 @@ SIX5 + + + + SIX5 + + @@ -142671,6 +165273,12 @@ deafness, autosomal dominant 6 deafness, autosomal dominant 6 + + + + DFNA6 + + @@ -142697,6 +165305,12 @@ SLC12A3 + + + + SLC12A3 + + @@ -142710,6 +165324,12 @@ This term has one or more labels that end with ', INCLUDED'. epiphyseal dysplasia, multiple, 3 + + + + EDM3 + + @@ -142738,6 +165358,12 @@ myosin 6 MYO6 + + + + MYO6 + + @@ -142762,6 +165388,12 @@ neurosensory nonsyndromic recessive deafness 6 deafness, autosomal recessive 6 + + + + DFNB6 + + @@ -142774,6 +165406,12 @@ achondrogenesis, type 1b achondrogenesis, type 1b + + + + ACG1B + + @@ -142795,6 +165433,12 @@ deafness, autosomal recessive 7 deafness, autosomal recessive 7 + + + + DFNB7 + + @@ -142813,6 +165457,12 @@ glc3, type B glaucoma 3, primary infantile, B + + + + GLC3B + + @@ -142836,6 +165486,12 @@ cone-rod dystrophy 5 cone-rod dystrophy 5 + + + + CORD5 + + @@ -142859,6 +165515,12 @@ DMP1 + + + + DMP1 + + @@ -142885,6 +165547,12 @@ MAP3K1 + + + + MAP3K1 + + @@ -142915,6 +165583,12 @@ nuclear receptor subfamily 3, group c, member 2 NR3C2 + + + + NR3C2 + + @@ -142942,6 +165616,12 @@ This term has one or more labels that end with ', INCLUDED'. TNXB + + + + TNXB + + @@ -142966,6 +165646,12 @@ cleft palate, cardiac defects, and mental retardation cleft palate, cardiac defects, and impaired intellectual development + + + + CPCMR + + @@ -143045,6 +165731,12 @@ smad family member 4 SMAD4 + + + + SMAD4 + + @@ -143068,6 +165760,12 @@ deafness, autosomal dominant 5 deafness, autosomal dominant 5 + + + + DFNA5 + + @@ -143092,6 +165790,12 @@ nephrotic syndrome, type 2 nephrotic syndrome, type 2 + + + + NPHS2 + + @@ -143133,6 +165837,12 @@ hek5 EPHB2 + + + + EPHB2 + + @@ -143163,6 +165873,12 @@ guanine nucleotide-binding protein, q polypeptide GNAQ + + + + GNAQ + + @@ -143182,6 +165898,12 @@ epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive + + + + EBS1D + + @@ -143211,6 +165933,12 @@ gshs GSS + + + + GSS + + @@ -143234,6 +165962,12 @@ brody myopathy brody disease + + + + BROD + + @@ -143254,6 +165988,12 @@ timothy syndrome timothy syndrome + + + + TS + + @@ -143287,6 +166027,12 @@ LEPR + + + + LEPR + + @@ -143342,6 +166088,12 @@ This term has one or more labels that end with ', INCLUDED'. CACNA1A + + + + CACNA1A + + @@ -143367,6 +166119,12 @@ CACNA1B + + + + CACNA1B + + @@ -143392,6 +166150,12 @@ CACNA1E + + + + CACNA1E + + @@ -143417,6 +166181,12 @@ NPC2 + + + + NPC2 + + @@ -143452,6 +166222,12 @@ SNTA1 + + + + SNTA1 + + @@ -143487,6 +166263,12 @@ SLC6A9 + + + + SLC6A9 + + @@ -143514,6 +166296,12 @@ NFKBIL1 + + + + NFKBIL1 + + @@ -143550,6 +166338,12 @@ valosin-containing protein VCP + + + + VCP + + @@ -143577,6 +166371,12 @@ AP2M1 + + + + AP2M1 + + @@ -143616,6 +166416,12 @@ laminin, alpha-5 LAMA5 + + + + LAMA5 + + @@ -143649,6 +166455,12 @@ HNRNPH1 + + + + HNRNPH1 + + @@ -143694,6 +166506,12 @@ SCARB1 + + + + SCARB1 + + @@ -143708,6 +166526,12 @@ dystonia 9 dystonia 9 + + + + DYT9 + + @@ -143752,6 +166576,12 @@ CTNND1 + + + + CTNND1 + + @@ -143793,6 +166623,12 @@ caveolin 1 CAV1 + + + + CAV1 + + @@ -143836,6 +166672,12 @@ PLXNA1 + + + + PLXNA1 + + @@ -143860,6 +166702,12 @@ H3F3B + + + + H3F3B + + @@ -143911,6 +166759,12 @@ alars AARS1 + + + + AARS1 + + @@ -143925,6 +166779,12 @@ This term has one or more labels that end with ', INCLUDED'. usher syndrome, type 1d + + + + USH1D + + @@ -143950,6 +166810,12 @@ epilepsy, familial adult myoclonic, 1 epilepsy, familial adult myoclonic, 1 + + + + FAME1 + + @@ -143966,6 +166832,12 @@ This term has one or more labels that end with ', INCLUDED'. deafness, autosomal recessive 9 + + + + DFNB9 + + @@ -143992,6 +166864,12 @@ neurosensory nonsyndromic recessive deafness 8 deafness, autosomal recessive 8 + + + + DFNB8 + + @@ -144023,6 +166901,12 @@ mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies + + + + MURCS + + @@ -144035,6 +166919,12 @@ zrsr2 pseudogene 1 zrsr2 pseudogene 1 + + + + ZRSR2P1 + + @@ -144090,6 +166980,12 @@ cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation ayme-gripp syndrome + + + + AYGRP + + @@ -144115,6 +167011,12 @@ FOXF1 + + + + FOXF1 + + @@ -144145,6 +167047,12 @@ forkhead-related activator 3 FOXC1 + + + + FOXC1 + + @@ -144171,6 +167079,12 @@ FOXI1 + + + + FOXI1 + + @@ -144207,6 +167121,12 @@ forkhead-related activator 8 FOXE3 + + + + FOXE3 + + @@ -144280,6 +167200,12 @@ peripheral myelin protein 22 PMP22 + + + + PMP22 + + @@ -144307,6 +167233,12 @@ neuropathy, hereditary motor and sensory, type 1c charcot-marie-tooth disease, demyelinating, type 1c + + + + CMT1C + + @@ -144324,6 +167256,12 @@ telangiectasia, hereditary hemorrhagic, type 3 telangiectasia, hereditary hemorrhagic, type 3 + + + + HHT3 + + @@ -144348,6 +167286,12 @@ EIF4A2 + + + + EIF4A2 + + @@ -144372,6 +167316,12 @@ MFAP5 + + + + MFAP5 + + @@ -144385,6 +167335,12 @@ supranuclear palsy, progressive, 1 supranuclear palsy, progressive, 1 + + + + PSNP1 + + @@ -144408,6 +167364,12 @@ CTSK + + + + CTSK + + @@ -144443,6 +167405,12 @@ ABCC2 + + + + ABCC2 + + @@ -144477,6 +167445,12 @@ congenital disorder of glycosylation, type id congenital disorder of glycosylation, type id + + + + CDG1D + + @@ -144511,6 +167485,12 @@ CAMLG + + + + CAMLG + + @@ -144535,6 +167515,12 @@ CLPP + + + + CLPP + + @@ -144569,6 +167555,12 @@ H3F3A + + + + H3F3A + + @@ -144592,6 +167584,12 @@ CYP2C8 + + + + CYP2C8 + + @@ -144614,6 +167612,12 @@ cytochrome p450, subfamily iic, polypeptide 9 CYP2C9 + + + + CYP2C9 + + @@ -144645,6 +167649,12 @@ transmembrane conserved gene STT3A + + + + STT3A + + @@ -144679,6 +167689,12 @@ gucy2e guanylate cyclase 2e, pseudogene + + + + GUCY2EP + + @@ -144714,6 +167730,12 @@ p150(glued), drosophila, homolog of DCTN1 + + + + DCTN1 + + @@ -144729,6 +167751,12 @@ This term has one or more labels that end with ', INCLUDED'. brugada syndrome 1 + + + + BRGDA1 + + @@ -144753,6 +167781,12 @@ CSTB + + + + CSTB + + @@ -144827,6 +167861,12 @@ lps-associated protein 4 GDF5 + + + + GDF5 + + @@ -144874,6 +167914,12 @@ growth/differentiation factor 6 GDF6 + + + + GDF6 + + @@ -144900,6 +167946,12 @@ IDH3A + + + + IDH3A + + @@ -144926,6 +167978,12 @@ DDX11 + + + + DDX11 + + @@ -144938,6 +167996,12 @@ dead/h-box helicase 12, pseudogene dead/h-box helicase 12, pseudogene + + + + DDX12P + + @@ -144954,6 +168018,12 @@ peripheral neuropathy and optic atrophy neuropathy, hereditary motor and sensory, type via, with optic atrophy + + + + HMSN6A + + @@ -144967,6 +168037,12 @@ cardiomyopathy, dilated, with conduction disorder and arrhythmia cardiomyopathy, dilated, 1e + + + + CMD1E + + @@ -144998,6 +168074,12 @@ small inducible cytokine subfamily a, member 11 CCL11 + + + + CCL11 + + @@ -145029,6 +168111,12 @@ spastic paraplegia 9a, autosomal dominant spastic paraplegia 9a, autosomal dominant + + + + SPG9A + + @@ -145125,6 +168213,12 @@ ARL2 + + + + ARL2 + + @@ -145150,6 +168244,12 @@ GCLM + + + + GCLM + + @@ -145185,6 +168285,12 @@ p137gpi CAPRIN1 + + + + CAPRIN1 + + @@ -145209,6 +168315,12 @@ RANBP2 + + + + RANBP2 + + @@ -145234,6 +168346,12 @@ DNAJC3 + + + + DNAJC3 + + @@ -145254,6 +168372,12 @@ This term has one or more labels that end with ', INCLUDED'. microphthalmia, syndromic 9 + + + + MCOPS9 + + @@ -145280,6 +168404,12 @@ suppression of tumorigenicity 12 suppression of tumorigenicity 12 + + + + ST12 + + @@ -145303,6 +168433,12 @@ phosphodiesterase 6h, cgmp-specific, cone, gamma PDE6H + + + + PDE6H + + @@ -145326,6 +168462,12 @@ PLA2G5 + + + + PLA2G5 + + @@ -145349,6 +168491,12 @@ toll/interleukin 1 receptor-like TLR1 + + + + TLR1 + + @@ -145385,6 +168533,12 @@ TUB + + + + TUB + + @@ -145400,6 +168554,12 @@ This term has one or more labels that end with ', INCLUDED'. hypocalcemia, autosomal dominant 1 + + + + HYPOC1 + + @@ -145441,6 +168601,12 @@ parathyroid ca(2+)-sensing receptor 1 CASR + + + + CASR + + @@ -145452,6 +168618,12 @@ ppb familial tumor and dysplasia syndrome pleuropulmonary blastoma + + + + PPB + + @@ -145471,6 +168643,12 @@ cataract, anterior polar, 2 cataract 24 + + + + CTRCT24 + + @@ -145500,6 +168678,12 @@ six homeobox 1 SIX1 + + + + SIX1 + + @@ -145518,6 +168702,12 @@ type 1 diabetes mellitus 11 type 1 diabetes mellitus 11 + + + + T1D11 + + @@ -145533,6 +168723,12 @@ woolly hair, palmoplantar keratoderma, and cardiac abnormalities naxos disease + + + + NXD + + @@ -145564,6 +168760,12 @@ frap-related protein 1 ATR + + + + ATR + + @@ -145577,6 +168779,12 @@ verloes-bourguignon syndrome dental anomalies and short stature + + + + DASS + + @@ -145613,6 +168821,12 @@ ADARB1 + + + + ADARB1 + + @@ -145632,6 +168846,12 @@ osteoporosis and oculocutaneous hypopigmentation syndrome osteoporosis and oculocutaneous hypopigmentation syndrome + + + + OOCH + + @@ -145720,6 +168940,12 @@ This term has one or more labels that end with ', INCLUDED'. polyposis syndrome, hereditary mixed, 1 + + + + HMPS1 + + @@ -145777,6 +169003,12 @@ This term has one or more labels that end with ', INCLUDED'. MTOR + + + + MTOR + + @@ -145805,6 +169037,12 @@ PIK3CG + + + + PIK3CG + + @@ -145827,6 +169065,12 @@ cerebellar ataxia, cayman type cerebellar ataxia, cayman type + + + + ATCAY + + @@ -145853,6 +169097,12 @@ DTNA + + + + DTNA + + @@ -145876,6 +169126,12 @@ GAMT + + + + GAMT + + @@ -145906,6 +169162,12 @@ topoisomerase, dna, iii, alpha TOP3A + + + + TOP3A + + @@ -145930,6 +169192,12 @@ SOS2 + + + + SOS2 + + @@ -145956,6 +169224,12 @@ BIN1 + + + + BIN1 + + @@ -146012,6 +169286,12 @@ m-caveolin CAV3 + + + + CAV3 + + @@ -146055,6 +169335,12 @@ unc104, c. elegans, homolog of KIF1A + + + + KIF1A + + @@ -146087,6 +169373,12 @@ AMBN + + + + AMBN + + @@ -146113,6 +169405,12 @@ MAP2K2 + + + + MAP2K2 + + @@ -146145,6 +169443,12 @@ NODAL + + + + NODAL + + @@ -146171,6 +169475,12 @@ DUT + + + + DUT + + @@ -146206,6 +169516,12 @@ This term has one or more labels that end with ', INCLUDED'. CCR2 + + + + CCR2 + + @@ -146233,6 +169549,12 @@ C1QBP + + + + C1QBP + + @@ -146246,6 +169568,12 @@ ichthyosis, lamellar, 2, formerly ichthyosis, congenital, autosomal recessive 4a + + + + ARCI4A + + @@ -146271,6 +169599,12 @@ MAB21L1 + + + + MAB21L1 + + @@ -146319,6 +169653,12 @@ plectin PLEC + + + + PLEC + + @@ -146343,6 +169683,12 @@ type 2 diabetes mellitus 1 type 2 diabetes mellitus 1 + + + + T2D1 + + @@ -146368,6 +169714,12 @@ ACVRL1 + + + + ACVRL1 + + @@ -146389,6 +169741,12 @@ muscular dystrophy, limb-girdle, type 2f muscular dystrophy, limb-girdle, autosomal recessive 6 + + + + LGMDR6 + + @@ -146426,6 +169784,12 @@ SLC10A2 + + + + SLC10A2 + + @@ -146455,6 +169819,12 @@ receptor tyrosine kinase nsk2, mouse, homolog of MUSK + + + + MUSK + + @@ -146494,6 +169864,12 @@ bone morphogenetic protein receptor, type 1a BMPR1A + + + + BMPR1A + + @@ -146519,6 +169895,12 @@ ACVR1B + + + + ACVR1B + + @@ -146543,6 +169925,12 @@ PPIL1 + + + + PPIL1 + + @@ -146599,6 +169987,12 @@ ptch PTCH1 + + + + PTCH1 + + @@ -146632,6 +170026,12 @@ PKD1 + + + + PKD1 + + @@ -146658,6 +170058,12 @@ HINT1 + + + + HINT1 + + @@ -146679,6 +170085,12 @@ deafness, autosomal dominant 10 deafness, autosomal dominant 10 + + + + DFNA10 + + @@ -146690,6 +170102,12 @@ deafness, autosomal dominant 11 deafness, autosomal dominant 11 + + + + DFNA11 + + @@ -146708,6 +170126,12 @@ type 1 diabetes mellitus 13 type 1 diabetes mellitus 13 + + + + T1D13 + + @@ -146738,6 +170162,12 @@ noonan-neurofibromatosis syndrome neurofibromatosis-noonan syndrome + + + + NFNS + + @@ -146772,6 +170202,12 @@ CLDN11 + + + + CLDN11 + + @@ -146798,6 +170234,12 @@ SCN2B + + + + SCN2B + + @@ -146828,6 +170270,12 @@ heat-stable enterotoxin receptor GUCY2C + + + + GUCY2C + + @@ -146850,6 +170298,12 @@ renal dysplasia, cystic, susceptibility to renal dysplasia, cystic, susceptibility to + + + + CYSRD + + @@ -146874,6 +170328,12 @@ MOGS + + + + MOGS + + @@ -146885,6 +170345,12 @@ cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss + + + + CAPOS + + @@ -146904,6 +170370,12 @@ varioliform macular atrophy of the skin atrophia maculosa varioliformis cutis, familial + + + + AMVC + + @@ -146978,6 +170450,12 @@ microphthalmia, syndromic 8 microphthalmia, syndromic 8 + + + + MCOPS8 + + @@ -147055,6 +170533,12 @@ brachial amelia, forebrain defects, and facial clefts brachial amelia, cleft lip, and holoprosencephaly + + + + ACLH + + @@ -147067,6 +170551,12 @@ sparse hair-impaired intellectual development syndrome nicolaides-baraitser syndrome + + + + NCBRS + + @@ -147087,6 +170577,12 @@ amelia, posterior, with pelvic and pulmonary hypoplasia syndrome amelia, posterior, with pelvic and pulmonary hypoplasia syndrome + + + + PAPPAS + + @@ -147121,6 +170617,12 @@ wilms tumor 4 wilms tumor 4 + + + + WT4 + + @@ -147145,6 +170647,12 @@ DVL1 + + + + DVL1 + + @@ -147176,6 +170684,12 @@ smad family member 2 SMAD2 + + + + SMAD2 + + @@ -147234,6 +170748,12 @@ DVL3 + + + + DVL3 + + @@ -147245,6 +170765,12 @@ deafness, autosomal dominant 9 deafness, autosomal dominant 9 + + + + DFNA9 + + @@ -147317,6 +170843,12 @@ cmkbr5 CCR5 + + + + CCR5 + + @@ -147392,11 +170924,17 @@ CMT4B1 charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1 + charcot-marie-tooth disease, demyelinating, type 4b1 charcot-marie-tooth disease, type 4b - charcot-marie-tooth disease, type 4b1 charcot-marie-tooth neuropathy, type 4b1 - charcot-marie-tooth disease, type 4b1 + charcot-marie-tooth disease, demyelinating, type 4b1 + + + + CMT4B1 + + @@ -147423,6 +170961,12 @@ TUSC3 + + + + TUSC3 + + @@ -147434,6 +170978,12 @@ deafness, autosomal recessive 12 deafness, autosomal recessive 12 + + + + DFNB12 + + @@ -147446,6 +170996,12 @@ type 1 diabetes mellitus 12 type 1 diabetes mellitus 12 + + + + T1D12 + + @@ -147467,6 +171023,12 @@ van maldergem syndrome 1 van maldergem syndrome 1 + + + + VMLDS1 + + @@ -147495,6 +171057,12 @@ CCL3L1 + + + + CCL3L1 + + @@ -147525,6 +171093,12 @@ transcription factor t TBXT + + + + TBXT + + @@ -147537,6 +171111,12 @@ thrombocytopenia, familial, with propensity to acute myelogenous leukemia platelet disorder, familial, with associated myeloid malignancy + + + + FPDMM + + @@ -147570,6 +171150,12 @@ GPR68 + + + + GPR68 + + @@ -147594,6 +171180,12 @@ CTRC + + + + CTRC + + @@ -147612,6 +171204,12 @@ type 2 diabetes mellitus 2 type 2 diabetes mellitus 2 + + + + T2D2 + + @@ -147641,6 +171239,12 @@ KAT6A + + + + KAT6A + + @@ -147669,6 +171273,12 @@ KAT5 + + + + KAT5 + + @@ -147706,6 +171316,12 @@ tndm diabetes mellitus, transient neonatal, 1 + + + + TNDM1 + + @@ -147734,6 +171350,12 @@ sarcoglycan, delta SGCD + + + + SGCD + + @@ -147757,6 +171379,12 @@ deafness, autosomal dominant 7 deafness, autosomal dominant 7 + + + + DFNA7 + + @@ -147780,6 +171408,12 @@ retinitis pigmentosa 18 retinitis pigmentosa 18 + + + + RP18 + + @@ -147806,6 +171440,12 @@ SLC39A7 + + + + SLC39A7 + + @@ -147829,6 +171469,12 @@ myopathy, myofibrillar, desmin-related myopathy, myofibrillar, 1 + + + + MFM1 + + @@ -147880,6 +171526,12 @@ lysyl-trna synthetase 1 KARS1 + + + + KARS1 + + @@ -147905,6 +171557,12 @@ OXCT1 + + + + OXCT1 + + @@ -147949,6 +171607,12 @@ rna, u4atac small nuclear RNU4ATAC + + + + RNU4ATAC + + @@ -148007,6 +171671,12 @@ sulfonylurea receptor 2 ABCC9 + + + + ABCC9 + + @@ -148030,6 +171700,12 @@ diacylglycerol kinase, epsilon, 64-kd DGKE + + + + DGKE + + @@ -148055,6 +171731,12 @@ CFL2 + + + + CFL2 + + @@ -148080,6 +171762,12 @@ NDUFB9 + + + + NDUFB9 + + @@ -148128,6 +171816,12 @@ oculoauriculofrontonasal syndrome oculoauriculofrontonasal syndrome + + + + OAFNS + + @@ -148154,6 +171848,12 @@ psoriasis 3, susceptibility to psoriasis 3, susceptibility to + + + + PSORS3 + + @@ -148175,12 +171875,18 @@ CMT4D charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d - charcot-marie-tooth disease, type 4d + charcot-marie-tooth disease, demyelinating, type 4d charcot-marie-tooth neuropathy, type 4d hmsn4d neuropathy, hereditary motor and sensory, lom type - charcot-marie-tooth disease, type 4d + charcot-marie-tooth disease, demyelinating, type 4d + + + + CMT4D + + @@ -148209,6 +171915,12 @@ inflammatory bowel disease 2 inflammatory bowel disease 2 + + + + IBD2 + + @@ -148240,6 +171952,12 @@ solute carrier organic anion transporter family, member 2a1 SLCO2A1 + + + + SLCO2A1 + + @@ -148267,6 +171985,12 @@ ATOH1 + + + + ATOH1 + + @@ -148280,6 +172004,12 @@ myasthenic syndrome, congenital, type iia, formerly myasthenic syndrome, congenital, 1a, slow-channel + + + + CMS1A + + @@ -148310,6 +172040,12 @@ AFF3 + + + + AFF3 + + @@ -148339,6 +172075,12 @@ deoxyguanosine kinase, mitochondrial DGUOK + + + + DGUOK + + @@ -148350,6 +172092,12 @@ portosystemic venous shunt, congenital patent ductus venosus + + + + PDV + + @@ -148387,6 +172135,12 @@ g protein-coupled receptor v28 CX3CR1 + + + + CX3CR1 + + @@ -148407,6 +172161,12 @@ moebius syndrome 2, formerly facial paresis, hereditary congenital, 1 + + + + HCFP1 + + @@ -148420,6 +172180,12 @@ charcot-marie-tooth neuropathy, type 2d charcot-marie-tooth disease, axonal, type 2d + + + + CMT2D + + @@ -148462,6 +172228,12 @@ MYO1E + + + + MYO1E + + @@ -148485,6 +172257,12 @@ STX1B + + + + STX1B + + @@ -148504,6 +172282,12 @@ spgyla DAZL + + + + DAZL + + @@ -148549,6 +172333,12 @@ This term has one or more labels that end with ', INCLUDED'. PPARG + + + + PPARG + + @@ -148574,6 +172364,12 @@ NCF4 + + + + NCF4 + + @@ -148599,6 +172395,12 @@ IGFALS + + + + IGFALS + + @@ -148624,6 +172426,12 @@ mucopolysaccharidosis, type 9 mucopolysaccharidosis, type 9 + + + + MPS9 + + @@ -148640,6 +172448,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction + + + + CMD1C + + @@ -148648,12 +172462,18 @@ + left ventricular noncompaction 6 CMD1D cardiomyopathy, dilated, 1d - left ventricular noncompaction 6 This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, dilated, 1d + + + + CMD1D + + @@ -148678,6 +172498,12 @@ agammaglobulinemia, autosomal recessive, due to ighm defect agammaglobulinemia 1, autosomal recessive + + + + AGM1 + + @@ -148702,6 +172528,12 @@ GFRA1 + + + + GFRA1 + + @@ -148739,6 +172571,12 @@ peroxisome biogenesis factor 6 PEX6 + + + + PEX6 + + @@ -148757,6 +172595,12 @@ rieger syndrome, type 2 axenfeld-rieger syndrome, type 2 + + + + RIEG2 + + @@ -148792,6 +172636,12 @@ smoothened, frizzled class receptor SMO + + + + SMO + + @@ -148817,6 +172667,12 @@ VPS35 + + + + VPS35 + + @@ -148855,6 +172711,12 @@ STAT6 + + + + STAT6 + + @@ -148879,6 +172741,12 @@ FGF12 + + + + FGF12 + + @@ -148908,6 +172776,12 @@ fibroblast growth factor homologous factor 4 FGF14 + + + + FGF14 + + @@ -148936,6 +172810,12 @@ ataxin 2 ATXN2 + + + + ATXN2 + + @@ -148959,6 +172839,12 @@ prostate cancer, hereditary, 1 prostate cancer, hereditary, 1 + + + + HPC1 + + @@ -148989,6 +172875,12 @@ chondrocyte protein ykl40 CHI3L1 + + + + CHI3L1 + + @@ -149013,6 +172905,12 @@ ALX1 + + + + ALX1 + + @@ -149037,6 +172935,12 @@ VEGFC + + + + VEGFC + + @@ -149078,6 +172982,12 @@ ubiquitin-binding protein p62 SQSTM1 + + + + SQSTM1 + + @@ -149091,6 +173001,12 @@ This term has one or more labels that end with ', INCLUDED'. athabaskan brainstem dysgenesis syndrome + + + + ABDS + + @@ -149124,6 +173040,12 @@ PROP1 + + + + PROP1 + + @@ -149141,6 +173063,12 @@ refsum disease, infantile peroxisome biogenesis disorder 1b + + + + PBD1B + + @@ -149186,6 +173114,12 @@ solurshin PITX2 + + + + PITX2 + + @@ -149198,6 +173132,12 @@ deafness, autosomal dominant 8 deafness, autosomal dominant 12 + + + + DFNA12 + + @@ -149209,6 +173149,12 @@ deafness, autosomal dominant 3a deafness, autosomal dominant 3a + + + + DFNA3A + + @@ -149232,6 +173178,12 @@ platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit PAFAH1B1 + + + + PAFAH1B1 + + @@ -149257,6 +173209,12 @@ cataract, congenital, cerulean type, 2 cataract 3, multiple types + + + + CTRCT3 + + @@ -149294,6 +173252,12 @@ s1-5 EFEMP1 + + + + EFEMP1 + + @@ -149314,6 +173278,12 @@ swann blood group blood group--swann system + + + + SW + + @@ -149360,6 +173330,12 @@ hypotrichosis, congenital, with juvenile macular dystrophy hypotrichosis, congenital, with juvenile macular dystrophy + + + + HJMD + + @@ -149386,6 +173362,12 @@ ATXN1 + + + + ATXN1 + + @@ -149414,6 +173396,12 @@ sws stuve-wiedemann syndrome 1 + + + + STWS1 + + @@ -149468,6 +173456,12 @@ PRSS2 + + + + PRSS2 + + @@ -149497,6 +173491,12 @@ interferon regulatory factor 8 IRF8 + + + + IRF8 + + @@ -149521,6 +173521,12 @@ ING1 + + + + ING1 + + @@ -149546,6 +173552,12 @@ LMAN1 + + + + LMAN1 + + @@ -149573,6 +173585,12 @@ ADD3 + + + + ADD3 + + @@ -149601,6 +173619,12 @@ wingless-type mmtv integration site family, member 7a WNT7A + + + + WNT7A + + @@ -149626,6 +173650,12 @@ EZH2 + + + + EZH2 + + @@ -149647,6 +173677,12 @@ This term has one or more labels that end with ', INCLUDED'. TAF15 + + + + TAF15 + + @@ -149672,6 +173708,12 @@ FOSL2 + + + + FOSL2 + + @@ -149696,6 +173738,12 @@ NRCAM + + + + NRCAM + + @@ -149720,6 +173768,12 @@ wilms tumor, susceptibility to wilms tumor 5 + + + + WT5 + + @@ -149768,6 +173822,12 @@ protein kinase, cgmp-dependent, type 2 PRKG2 + + + + PRKG2 + + @@ -149797,6 +173857,12 @@ receptor-associated protein of the synapse, 43-kd RAPSN + + + + RAPSN + + @@ -149820,6 +173886,12 @@ BARD1 + + + + BARD1 + + @@ -149844,6 +173916,12 @@ JARID2 + + + + JARID2 + + @@ -149853,10 +173931,16 @@ CMT4C charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4c - charcot-marie-tooth disease, type 4c + charcot-marie-tooth disease, demyelinating, type 4c charcot-marie-tooth neuropathy, type 4c - charcot-marie-tooth disease, type 4c + charcot-marie-tooth disease, demyelinating, type 4c + + + + CMT4C + + @@ -149885,6 +173969,12 @@ transcription factor ap2-beta TFAP2B + + + + TFAP2B + + @@ -149909,6 +173999,12 @@ LCP2 + + + + LCP2 + + @@ -149934,6 +174030,12 @@ IL12RB1 + + + + IL12RB1 + + @@ -149948,13 +174050,19 @@ + MFT1 brooke-fordyce trichoepitheliomas epithelioma adenoides cysticum of brooke epithelioma, hereditary multiple benign cystic - mft1 trichoepithelioma, multiple familial, 1 trichoepithelioma, multiple familial, 1 + + + + MFT1 + + @@ -149992,6 +174100,12 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 SMARCB1 + + + + SMARCB1 + + @@ -150033,6 +174147,12 @@ schad, formerly HADH + + + + HADH + + @@ -150044,6 +174164,12 @@ mardini-nyhan association lung agenesis, congenital heart defects, and thumb anomalies syndrome + + + + LACHT + + @@ -150069,6 +174195,12 @@ NTN1 + + + + NTN1 + + @@ -150096,6 +174228,12 @@ ABCA3 + + + + ABCA3 + + @@ -150132,6 +174270,12 @@ RDH5 + + + + RDH5 + + @@ -150160,6 +174304,12 @@ sry-box 18 SOX18 + + + + SOX18 + + @@ -150184,6 +174334,12 @@ TBX5 + + + + TBX5 + + @@ -150208,6 +174364,12 @@ TBX3 + + + + TBX3 + + @@ -150250,6 +174412,12 @@ twist, drosophila, homolog of, 1 TWIST1 + + + + TWIST1 + + @@ -150274,6 +174442,12 @@ UBE3A + + + + UBE3A + + @@ -150335,6 +174509,12 @@ This term has one or more labels that end with ', INCLUDED'. leukemia, acute myeloid + + + + AML + + @@ -150360,6 +174540,12 @@ SMN2 + + + + SMN2 + + @@ -150393,6 +174579,12 @@ iris hypoplasia with glaucoma anterior segment dysgenesis 3 + + + + ASGD3 + + @@ -150418,6 +174610,12 @@ POU4F1 + + + + POU4F1 + + @@ -150441,6 +174639,12 @@ NSF + + + + NSF + + @@ -150454,6 +174658,12 @@ This term has one or more labels that end with ', INCLUDED'. neural tube defects, folate-sensitive + + + + NTDFS + + @@ -150494,6 +174704,12 @@ This term has one or more labels that end with ', INCLUDED'. PRKACA + + + + PRKACA + + @@ -150528,6 +174744,12 @@ ACOX2 + + + + ACOX2 + + @@ -150551,6 +174773,12 @@ PPP2R5D + + + + PPP2R5D + + @@ -150585,6 +174813,12 @@ pheochromocytoma/paraganglioma syndrome 2 pheochromocytoma/paraganglioma syndrome 2 + + + + PPGL2 + + @@ -150609,6 +174843,12 @@ MYOC + + + + MYOC + + @@ -150645,6 +174885,12 @@ eyes absent, drosophila, homolog of, 1 EYA1 + + + + EYA1 + + @@ -150691,6 +174937,12 @@ gata-binding protein 6 GATA6 + + + + GATA6 + + @@ -150726,6 +174978,12 @@ ESR2 + + + + ESR2 + + @@ -150754,6 +175012,12 @@ SNRNP200 + + + + SNRNP200 + + @@ -150855,6 +175119,12 @@ type 1 diabetes mellitus 15 type 1 diabetes mellitus 15 + + + + T1D15 + + @@ -150879,6 +175149,12 @@ ANGPT1 + + + + ANGPT1 + + @@ -150889,6 +175165,12 @@ spondyloepimetaphyseal dysplasia with abnormal dentition spondyloepimetaphyseal dysplasia with abnormal dentition + + + + SEMDAD + + @@ -150923,6 +175205,12 @@ DPF2 + + + + DPF2 + + @@ -150940,6 +175228,12 @@ trichothiodystrophy, photosensitive trichothiodystrophy 1, photosensitive + + + + TTD1 + + @@ -150981,6 +175275,12 @@ hypokalemic alkalosis with hypercalciuria 1, antenatal bartter syndrome, type 1, antenatal + + + + BARTS1 + + @@ -151008,6 +175308,12 @@ sheldon-hall syndrome arthrogryposis, distal, type 2b1 + + + + DA2B1 + + @@ -151024,6 +175330,12 @@ glaucoma 1, primary open angle, c glaucoma 1, primary open angle, c + + + + GLC1C + + @@ -151054,6 +175366,12 @@ coq7, s. cerevisiae, homolog of COQ7 + + + + COQ7 + + @@ -151080,6 +175398,12 @@ KRT12 + + + + KRT12 + + @@ -151110,6 +175434,12 @@ pgdh HPGD + + + + HPGD + + @@ -151135,6 +175465,12 @@ TAF4B + + + + TAF4B + + @@ -151163,6 +175499,12 @@ PLA2G7 + + + + PLA2G7 + + @@ -151206,6 +175548,12 @@ photoreceptor rim protein ABCA4 + + + + ABCA4 + + @@ -151266,6 +175614,12 @@ transforming growth factor, beta-induced, 68-kd TGFBI + + + + TGFBI + + @@ -151289,6 +175643,12 @@ UCP2 + + + + UCP2 + + @@ -151306,6 +175666,12 @@ lsl leptin, serum level of, quantitative trait locus 1 + + + + LEPQTL1 + + @@ -151343,6 +175709,12 @@ SERPINB8 + + + + SERPINB8 + + @@ -151370,6 +175742,12 @@ PTGIS + + + + PTGIS + + @@ -151401,6 +175779,12 @@ t-cell immunodeficiency, congenital alopecia, and nail dystrophy t-cell immunodeficiency, congenital alopecia, and nail dystrophy + + + + TIDAND + + @@ -151421,6 +175805,12 @@ curry-jones syndrome curry-jones syndrome + + + + CRJS + + @@ -151443,6 +175833,12 @@ quebec platelet disorder quebec platelet disorder + + + + QPD + + @@ -151477,6 +175873,12 @@ STXBP2 + + + + STXBP2 + + @@ -151488,6 +175890,12 @@ retinitis pigmentosa 19 retinitis pigmentosa 19 + + + + RP19 + + @@ -151517,6 +175925,12 @@ t-box transcription factor 4 TBX4 + + + + TBX4 + + @@ -151550,6 +175964,12 @@ FZD5 + + + + FZD5 + + @@ -151580,6 +176000,12 @@ neurogenic differentiation 1 NEUROD1 + + + + NEUROD1 + + @@ -151603,6 +176029,12 @@ NEUROD2 + + + + NEUROD2 + + @@ -151628,6 +176060,12 @@ NEUROG1 + + + + NEUROG1 + + @@ -151685,6 +176123,12 @@ pten1 PTEN + + + + PTEN + + @@ -151709,6 +176153,12 @@ PIGC + + + + PIGC + + @@ -151735,6 +176185,12 @@ ATIC + + + + ATIC + + @@ -151762,6 +176218,12 @@ SMARCC1 + + + + SMARCC1 + + @@ -151789,6 +176251,12 @@ SMARCC2 + + + + SMARCC2 + + @@ -151816,6 +176284,12 @@ SMARCD1 + + + + SMARCD1 + + @@ -151843,6 +176317,12 @@ SMARCD2 + + + + SMARCD2 + + @@ -151868,6 +176348,12 @@ MEIS2 + + + + MEIS2 + + @@ -151892,6 +176378,12 @@ OSMR + + + + OSMR + + @@ -151904,6 +176396,12 @@ This term has one or more labels that end with ', INCLUDED'. systemic lupus erythematosus, susceptibility to, 1 + + + + SLEB1 + + @@ -151928,6 +176426,12 @@ HYOU1 + + + + HYOU1 + + @@ -151953,6 +176457,12 @@ GLMN + + + + GLMN + + @@ -151979,6 +176489,12 @@ ENTPD1 + + + + ENTPD1 + + @@ -152004,6 +176520,12 @@ GALNT3 + + + + GALNT3 + + @@ -152034,6 +176556,12 @@ peroxisome biogenesis factor 7 PEX7 + + + + PEX7 + + @@ -152063,6 +176591,12 @@ peroxisome biogenesis factor 12 PEX12 + + + + PEX12 + + @@ -152110,6 +176644,12 @@ This term has one or more labels that end with ', INCLUDED'. CASP10 + + + + CASP10 + + @@ -152154,6 +176694,12 @@ mort1-associated ced3 homolog CASP8 + + + + CASP8 + + @@ -152172,6 +176718,12 @@ seizures, benign familial infantile, 1 seizures, benign familial infantile, 1 + + + + BFIS1 + + @@ -152204,6 +176756,12 @@ This term has one or more labels that end with ', INCLUDED'. SH3GL1 + + + + SH3GL1 + + @@ -152229,6 +176787,12 @@ VDR + + + + VDR + + @@ -152258,6 +176822,12 @@ p4501b1 CYP1B1 + + + + CYP1B1 + + @@ -152269,6 +176839,12 @@ megaloblastic anemia, folate-responsive megaloblastic anemia, folate-responsive + + + + MEGAF + + @@ -152298,6 +176874,12 @@ ehlers-danlos syndrome, type vib, formerly ehlers-danlos syndrome, musculocontractural type, 1 + + + + EDSMC1 + + @@ -152310,6 +176892,12 @@ retinal cone dystrophy 2 cone-rod dystrophy 6 + + + + CORD6 + + @@ -152336,6 +176924,12 @@ POLRMT + + + + POLRMT + + @@ -152357,6 +176951,12 @@ neuronal ceroid lipofuscinosis, late infantile, variant ceroid lipofuscinosis, neuronal, 6a + + + + CLN6A + + @@ -152388,6 +176988,12 @@ PMM2 + + + + PMM2 + + @@ -152412,6 +177018,12 @@ MSTN + + + + MSTN + + @@ -152441,6 +177053,12 @@ peroxisome biogenesis factor 13 PEX13 + + + + PEX13 + + @@ -152466,6 +177084,12 @@ PEX14 + + + + PEX14 + + @@ -152513,6 +177137,12 @@ TAF4 + + + + TAF4 + + @@ -152531,6 +177161,12 @@ This term has one or more labels that end with ', INCLUDED'. skin/hair/eye pigmentation, variation in, 3 + + + + SHEP3 + + @@ -152555,6 +177191,12 @@ rathke pouch homeobox HESX1 + + + + HESX1 + + @@ -152575,6 +177217,12 @@ This term has one or more labels that end with ', INCLUDED'. pallister-killian syndrome + + + + PKS + + @@ -152602,6 +177250,12 @@ MCM6 + + + + MCM6 + + @@ -152626,6 +177280,12 @@ MMP19 + + + + MMP19 + + @@ -152689,6 +177349,12 @@ kiaa0083 DNA2 + + + + DNA2 + + @@ -152709,6 +177375,12 @@ premature aging syndrome, penttinen type premature aging syndrome, penttinen type + + + + PENTT + + @@ -152720,6 +177392,12 @@ exudative vitreoretinopathy 4 exudative vitreoretinopathy 4 + + + + EVR4 + + @@ -152744,6 +177422,12 @@ FXYD2 + + + + FXYD2 + + @@ -152755,6 +177439,12 @@ phosphoglycerate dehydrogenase deficiency phosphoglycerate dehydrogenase deficiency + + + + PHGDHD + + @@ -152765,6 +177455,12 @@ bilirubin, serum level of, quantitative trait locus 1 bilirubin, serum level of, quantitative trait locus 1 + + + + BILIQTL1 + + @@ -152797,6 +177493,12 @@ nurf301, drosophila, homolog of BPTF + + + + BPTF + + @@ -152815,6 +177517,12 @@ persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, familial, 2 + + + + HHF2 + + @@ -152841,6 +177549,12 @@ NDUFS7 + + + + NDUFS7 + + @@ -152875,6 +177589,12 @@ NR4A2 + + + + NR4A2 + + @@ -152921,6 +177641,12 @@ ligase iv, dna, atp-dependent LIG4 + + + + LIG4 + + @@ -152963,6 +177689,12 @@ SLC5A5 + + + + SLC5A5 + + @@ -152987,6 +177719,12 @@ WNK4 + + + + WNK4 + + @@ -153010,6 +177748,12 @@ vacuolar neuromyopathy myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant + + + + MRUPAV + + @@ -153021,6 +177765,12 @@ cholestasis, progressive familial intrahepatic, 2 cholestasis, progressive familial intrahepatic, 2 + + + + PFIC2 + + @@ -153046,10 +177796,17 @@ GLHS - cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia + cerebello-trigeminal-dermal dysplasia + cerebellotrigeminal dermal dysplasia gomez-lopez-hernandez syndrome gomez-lopez-hernandez syndrome + + + + GLHS + + @@ -153076,6 +177833,12 @@ ARHGEF1 + + + + ARHGEF1 + + @@ -153100,6 +177863,12 @@ This term has one or more labels that end with ', INCLUDED'. autoimmune lymphoproliferative syndrome + + + + ALPS + + @@ -153133,6 +177902,12 @@ multifunctional protein 2 HSD17B4 + + + + HSD17B4 + + @@ -153157,6 +177932,12 @@ RFXAP + + + + RFXAP + + @@ -153194,6 +177975,12 @@ regulatory factor x, 5 RFX5 + + + + RFX5 + + @@ -153229,6 +178016,12 @@ PLOD2 + + + + PLOD2 + + @@ -153240,6 +178033,12 @@ deafness, autosomal dominant 13 deafness, autosomal dominant 13 + + + + DFNA13 + + @@ -153265,6 +178064,12 @@ deafness, autosomal recessive 95 deafness, autosomal recessive 15 + + + + DFNB15 + + @@ -153291,6 +178096,12 @@ B4GALNT1 + + + + B4GALNT1 + + @@ -153311,6 +178122,12 @@ sperm-specific antigen 1 sperm-specific antigen 1 + + + + SSFA1 + + @@ -153335,6 +178152,12 @@ RAX + + + + RAX + + @@ -153348,6 +178171,12 @@ This term has one or more labels that end with ', INCLUDED'. bone mineral density quantitative trait locus 1 + + + + BMND1 + + @@ -153373,6 +178202,12 @@ cataract, zonular pulverulent 3 cataract 14, multiple types + + + + CTRCT14 + + @@ -153384,6 +178219,12 @@ malignant hyperthermia, susceptibility to, 5 malignant hyperthermia, susceptibility to, 5 + + + + MHS5 + + @@ -153426,6 +178267,12 @@ CST6 + + + + CST6 + + @@ -153450,6 +178297,12 @@ KPNA3 + + + + KPNA3 + + @@ -153478,6 +178331,12 @@ triple functional domain TRIO + + + + TRIO + + @@ -153491,6 +178350,12 @@ glomerulopathy with fibronectin deposits 2 glomerulopathy with fibronectin deposits 2 + + + + GFND2 + + @@ -153518,6 +178383,12 @@ TRAF3 + + + + TRAF3 + + @@ -153544,6 +178415,12 @@ ZNF148 + + + + ZNF148 + + @@ -153567,6 +178444,12 @@ GHSR + + + + GHSR + + @@ -153592,6 +178475,12 @@ IRF4 + + + + IRF4 + + @@ -153617,6 +178506,12 @@ ORC1 + + + + ORC1 + + @@ -153642,6 +178537,12 @@ UGT2B17 + + + + UGT2B17 + + @@ -153678,6 +178579,12 @@ wingless-type mmtv integration site family, member 10b WNT10B + + + + WNT10B + + @@ -153704,6 +178611,12 @@ DLX4 + + + + DLX4 + + @@ -153732,6 +178645,12 @@ SUMO1 + + + + SUMO1 + + @@ -153758,6 +178677,12 @@ GET3 + + + + GET3 + + @@ -153783,6 +178708,12 @@ MANF + + + + MANF + + @@ -153806,6 +178737,12 @@ GDF9 + + + + GDF9 + + @@ -153847,6 +178784,12 @@ jagl1 JAG1 + + + + JAG1 + + @@ -153879,6 +178822,12 @@ ANGPT2 + + + + ANGPT2 + + @@ -153913,6 +178862,12 @@ COPA + + + + COPA + + @@ -153938,6 +178893,12 @@ ARHGDIA + + + + ARHGDIA + + @@ -153977,6 +178938,12 @@ KRT86 + + + + KRT86 + + @@ -154001,6 +178968,12 @@ BNC1 + + + + BNC1 + + @@ -154025,6 +178998,12 @@ CRY1 + + + + CRY1 + + @@ -154054,6 +179033,12 @@ This term has one or more labels that end with ', INCLUDED'. type 1 diabetes mellitus 6 + + + + T1D6 + + @@ -154066,6 +179051,12 @@ type 1 diabetes mellitus 10 type 1 diabetes mellitus 10 + + + + T1D10 + + @@ -154110,6 +179101,12 @@ calcium channel, voltage-dependent, beta-4 subunit CACNB4 + + + + CACNB4 + + @@ -154121,6 +179118,12 @@ klick syndrome keratosis linearis with ichthyosis congenita and sclerosing keratoderma + + + + KLICK + + @@ -154133,6 +179136,12 @@ muscular dystrophy, limb-girdle, type 2g muscular dystrophy, limb-girdle, autosomal recessive 7 + + + + LGMDR7 + + @@ -154167,6 +179176,12 @@ TAPBP + + + + TAPBP + + @@ -154192,6 +179207,12 @@ WNT2B + + + + WNT2B + + @@ -154227,6 +179248,12 @@ RORB + + + + RORB + + @@ -154250,6 +179277,12 @@ PKP1 + + + + PKP1 + + @@ -154270,6 +179303,12 @@ thrombocythemia 2 thrombocythemia 2 + + + + THCYT2 + + @@ -154300,6 +179339,12 @@ sr31747a-binding protein SIGMAR1 + + + + SIGMAR1 + + @@ -154333,6 +179378,12 @@ OGG1 + + + + OGG1 + + @@ -154366,6 +179417,12 @@ TP73 + + + + TP73 + + @@ -154391,6 +179448,12 @@ NOVA2 + + + + NOVA2 + + @@ -154407,6 +179470,12 @@ friedreich ataxia 2 friedreich ataxia 2 + + + + FRDA2 + + @@ -154431,6 +179500,12 @@ TNR + + + + TNR + + @@ -154466,6 +179541,12 @@ POLR1B + + + + POLR1B + + @@ -154490,6 +179571,12 @@ COX6A2 + + + + COX6A2 + + @@ -154501,6 +179588,12 @@ suppressor of tumorigenicity 11 suppressor of tumorigenicity 11 + + + + ST11 + + @@ -154528,6 +179621,12 @@ hypomagnesemic tetany hypomagnesemia 1, intestinal + + + + HOMG1 + + @@ -154553,6 +179652,12 @@ PSMB1 + + + + PSMB1 + + @@ -154578,6 +179683,12 @@ PPP1R12A + + + + PPP1R12A + + @@ -154607,6 +179718,12 @@ clckb CLCNKB + + + + CLCNKB + + @@ -154631,6 +179748,12 @@ CLCNKA + + + + CLCNKA + + @@ -154654,6 +179777,12 @@ obesity, susceptibility to body mass index quantitative trait locus 9 + + + + BMIQ9 + + @@ -154679,6 +179808,12 @@ PHYH + + + + PHYH + + @@ -154722,6 +179857,12 @@ ectodermal dysplasia, 'pure' hair/nail type ectodermal dysplasia 4, hair/nail type + + + + ECTD4 + + @@ -154747,6 +179888,12 @@ EML1 + + + + EML1 + + @@ -154781,6 +179928,12 @@ RHOH + + + + RHOH + + @@ -154804,6 +179957,12 @@ UCP3 + + + + UCP3 + + @@ -154829,6 +179988,12 @@ RAC1 + + + + RAC1 + + @@ -154864,6 +180029,12 @@ rho family, small gtp-binding protein rac2 RAC2 + + + + RAC2 + + @@ -154888,6 +180059,12 @@ RAC3 + + + + RAC3 + + @@ -154920,6 +180097,12 @@ transcription factor zf9 KLF6 + + + + KLF6 + + @@ -154961,6 +180144,12 @@ t-box transcription factor 1 TBX1 + + + + TBX1 + + @@ -154993,6 +180182,12 @@ TALDO1 + + + + TALDO1 + + @@ -155019,6 +180214,12 @@ IMPA1 + + + + IMPA1 + + @@ -155032,6 +180233,12 @@ paroxysmal kinesigenic dyskinesia with infantile convulsions convulsions, familial infantile, with paroxysmal choreoathetosis + + + + ICCA + + @@ -155084,6 +180291,12 @@ COX6A1 + + + + COX6A1 + + @@ -155120,6 +180333,12 @@ special at-rich sequence-binding protein 1 SATB1 + + + + SATB1 + + @@ -155154,6 +180373,12 @@ fibrosis of extraocular muscles, congenital, autosomal recessive fibrosis of extraocular muscles, congenital, 2 + + + + CFEOM2 + + @@ -155177,6 +180402,12 @@ trimethylaminuria trimethylaminuria + + + + TMAU + + @@ -155188,6 +180419,12 @@ paget disease of bone 2, early-onset paget disease of bone 2, early-onset + + + + PDB2 + + @@ -155213,6 +180450,12 @@ speech-language disorder 1 speech-language disorder 1 + + + + SPCH1 + + @@ -155226,6 +180469,12 @@ thiel-behnke corneal dystrophy corneal dystrophy, thiel-behnke type + + + + CDTB + + @@ -155237,6 +180486,12 @@ usher syndrome, type 1f usher syndrome, type 1f + + + + USH1F + + @@ -155264,6 +180519,12 @@ postaxial polydactyly, type a2 polydactyly, postaxial, type a2 + + + + PAPA2 + + @@ -155282,6 +180543,12 @@ arrhythmogenic right ventricular dysplasia, familial, 3 arrhythmogenic right ventricular dysplasia, familial, 3 + + + + ARVD3 + + @@ -155300,6 +180567,12 @@ arrhythmogenic right ventricular dysplasia, familial, 4 arrhythmogenic right ventricular dysplasia, familial, 4 + + + + ARVD4 + + @@ -155324,6 +180597,12 @@ nph2 nephronophthisis 2 + + + + NPHP2 + + @@ -155364,6 +180643,12 @@ ltbp2, formerly LTBP3 + + + + LTBP3 + + @@ -155399,6 +180684,12 @@ ltbp3, formerly LTBP2 + + + + LTBP2 + + @@ -155411,6 +180702,12 @@ deafness, autosomal recessive 18a deafness, autosomal recessive 18a + + + + DFNB18A + + @@ -155425,6 +180722,12 @@ This term has one or more labels that end with ', INCLUDED'. cone dystrophy 3 + + + + COD3 + + @@ -155468,6 +180771,12 @@ usher syndrome, type 1e usher syndrome, type 1e + + + + USH1E + + @@ -155479,6 +180788,12 @@ amyotrophic lateral sclerosis 5, juvenile amyotrophic lateral sclerosis 5, juvenile + + + + ALS5 + + @@ -155504,6 +180819,12 @@ TRAPPC10 + + + + TRAPPC10 + + @@ -155527,6 +180848,12 @@ SH3BP2 + + + + SH3BP2 + + @@ -155556,6 +180883,12 @@ muts, e. coli, homolog of, 4 MSH4 + + + + MSH4 + + @@ -155599,6 +180932,12 @@ matrilin 3 MATN3 + + + + MATN3 + + @@ -155612,6 +180951,12 @@ This term has one or more labels that end with ', INCLUDED'. spondyloepimetaphyseal dysplasia, missouri type + + + + SEMDM + + @@ -155643,6 +180988,12 @@ myeloid/lymphoid or mixed lineage leukemia 4 KMT2D + + + + KMT2D + + @@ -155680,6 +181031,12 @@ fibroblast growth factor 10 FGF10 + + + + FGF10 + + @@ -155703,6 +181060,12 @@ CHD1 + + + + CHD1 + + @@ -155726,6 +181089,12 @@ CHD2 + + + + CHD2 + + @@ -155751,6 +181120,12 @@ CHD3 + + + + CHD3 + + @@ -155781,6 +181156,12 @@ diaphanous-related formin 1 DIAPH1 + + + + DIAPH1 + + @@ -155804,6 +181185,12 @@ SRP72 + + + + SRP72 + + @@ -155829,6 +181216,12 @@ CAMK2G + + + + CAMK2G + + @@ -155849,6 +181242,12 @@ This term has one or more labels that end with ', INCLUDED'. dystonia 7, torsion + + + + DYT7 + + @@ -155874,6 +181273,12 @@ COX10 + + + + COX10 + + @@ -155900,6 +181305,12 @@ MAPKAPK3 + + + + MAPKAPK3 + + @@ -155917,6 +181328,12 @@ tremor, hereditary essential, 2 tremor, hereditary essential, 2 + + + + ETM2 + + @@ -155942,6 +181359,12 @@ DNALI1 + + + + DNALI1 + + @@ -155977,6 +181400,12 @@ peroxisome biogenesis factor 1 PEX1 + + + + PEX1 + + @@ -156002,6 +181431,12 @@ NDUFA2 + + + + NDUFA2 + + @@ -156026,6 +181461,12 @@ NDUFA6 + + + + NDUFA6 + + @@ -156050,6 +181491,12 @@ NDUFB8 + + + + NDUFB8 + + @@ -156075,6 +181522,12 @@ NDUFS8 + + + + NDUFS8 + + @@ -156098,6 +181551,12 @@ PLCD1 + + + + PLCD1 + + @@ -156121,6 +181580,12 @@ BRDT + + + + BRDT + + @@ -156146,6 +181611,12 @@ LHX4 + + + + LHX4 + + @@ -156182,6 +181653,12 @@ PITX1 + + + + PITX1 + + @@ -156194,6 +181671,12 @@ rhyns syndrome rhyns syndrome + + + + RHYNS + + @@ -156222,6 +181705,12 @@ KRT81 + + + + KRT81 + + @@ -156257,6 +181746,12 @@ AP3B2 + + + + AP3B2 + + @@ -156282,6 +181777,12 @@ ESRRB + + + + ESRRB + + @@ -156312,6 +181813,12 @@ vrk serine/threonine kinase 1 VRK1 + + + + VRK1 + + @@ -156341,6 +181848,12 @@ myeloid differentiation primary response gene 88 MYD88 + + + + MYD88 + + @@ -156365,6 +181878,12 @@ PSMB4 + + + + PSMB4 + + @@ -156390,6 +181909,12 @@ NKX3-2 + + + + NKX3-2 + + @@ -156428,6 +181953,12 @@ kuzbanian, drosophila, homolog of ADAM10 + + + + ADAM10 + + @@ -156464,6 +181995,12 @@ protease, serine, 11 HTRA1 + + + + HTRA1 + + @@ -156493,6 +182030,12 @@ heat-shock protein 27 HSPB1 + + + + HSPB1 + + @@ -156556,6 +182099,12 @@ ECM1 + + + + ECM1 + + @@ -156581,6 +182130,12 @@ DDOST + + + + DDOST + + @@ -156612,6 +182167,12 @@ RAB18 + + + + RAB18 + + @@ -156641,6 +182202,12 @@ potassium channel, inwardly rectifying, subfamily j, member 10 KCNJ10 + + + + KCNJ10 + + @@ -156665,6 +182232,12 @@ SIAH1 + + + + SIAH1 + + @@ -156706,6 +182279,12 @@ serine/threonine protein kinase 11 STK11 + + + + STK11 + + @@ -156729,6 +182308,12 @@ sal-like 1 SALL1 + + + + SALL1 + + @@ -156753,6 +182338,12 @@ SALL2 + + + + SALL2 + + @@ -156781,6 +182372,12 @@ ZMYM2 + + + + ZMYM2 + + @@ -156817,6 +182414,12 @@ cone-rod homeobox-containing gene CRX + + + + CRX + + @@ -156843,6 +182446,12 @@ TCF7L2 + + + + TCF7L2 + + @@ -156879,6 +182488,12 @@ sry-related hmg-box gene 10 SOX10 + + + + SOX10 + + @@ -156903,6 +182518,12 @@ KCNQ3 + + + + KCNQ3 + + @@ -156932,6 +182553,12 @@ potassium channel, voltage-gated, subfamily q, member 2 KCNQ2 + + + + KCNQ2 + + @@ -156973,6 +182600,12 @@ EXOSC2 + + + + EXOSC2 + + @@ -156996,6 +182629,12 @@ MIPEP + + + + MIPEP + + @@ -157022,6 +182661,12 @@ AP2S1 + + + + AP2S1 + + @@ -157053,6 +182698,12 @@ sfa1 CD151 + + + + CD151 + + @@ -157076,6 +182727,12 @@ DNASE1L3 + + + + DNASE1L3 + + @@ -157100,6 +182757,12 @@ GTPBP1 + + + + GTPBP1 + + @@ -157156,6 +182819,12 @@ TNFRSF9 + + + + TNFRSF9 + + @@ -157190,6 +182859,12 @@ SCARB2 + + + + SCARB2 + + @@ -157230,6 +182905,12 @@ spondylometaphyseal dysplasia, axial spondylometaphyseal dysplasia, axial + + + + SMDAX + + @@ -157262,6 +182943,12 @@ transcription factor 4 TCF4 + + + + TCF4 + + @@ -157286,6 +182973,12 @@ GALNT2 + + + + GALNT2 + + @@ -157311,6 +183004,12 @@ GUCA1B + + + + GUCA1B + + @@ -157336,6 +183035,12 @@ PABPN1 + + + + PABPN1 + + @@ -157365,6 +183070,12 @@ tubby-like protein 1 TULP1 + + + + TULP1 + + @@ -157393,6 +183104,12 @@ SC5D + + + + SC5D + + @@ -157424,6 +183141,12 @@ tripartite motif-containing protein 32 TRIM32 + + + + TRIM32 + + @@ -157449,6 +183172,12 @@ FOXJ1 + + + + FOXJ1 + + @@ -157473,6 +183202,12 @@ ECHS1 + + + + ECHS1 + + @@ -157500,6 +183235,12 @@ CIB1 + + + + CIB1 + + @@ -157525,6 +183266,12 @@ AP4M1 + + + + AP4M1 + + @@ -157548,6 +183295,12 @@ RAB7 + + + + RAB7 + + @@ -157585,6 +183338,12 @@ hr lysine demethylase and nuclear receptor corepressor HR + + + + HR + + @@ -157617,6 +183376,12 @@ agouti-related transcript, mouse, homolog of AGRP + + + + AGRP + + @@ -157655,6 +183420,12 @@ tr TERC + + + + TERC + + @@ -157689,6 +183460,12 @@ NCAPH + + + + NCAPH + + @@ -157712,6 +183489,12 @@ EMP2 + + + + EMP2 + + @@ -157736,6 +183519,12 @@ ROR1 + + + + ROR1 + + @@ -157765,6 +183554,12 @@ receptor tyrosine kinase-like orphan receptor 2 ROR2 + + + + ROR2 + + @@ -157785,6 +183580,12 @@ plantar lipomatosis, unusual facies, and developmental delay pierpont syndrome + + + + PRPTS + + @@ -157810,6 +183611,12 @@ TRPC3 + + + + TRPC3 + + @@ -157844,6 +183651,12 @@ paranodin CNTNAP1 + + + + CNTNAP1 + + @@ -157857,6 +183670,12 @@ mdr3 deficiency cholestasis, progressive familial intrahepatic, 3 + + + + PFIC3 + + @@ -157880,6 +183699,12 @@ LAT + + + + LAT + + @@ -157905,6 +183730,12 @@ WIPF1 + + + + WIPF1 + + @@ -157935,6 +183766,12 @@ HCRT + + + + HCRT + + @@ -157964,6 +183801,12 @@ l-arginine:glycine amidinotransferase GATM + + + + GATM + + @@ -157978,6 +183821,12 @@ skeletal dysplasia, lethal, with gracile bones gracile bone dysplasia + + + + GCLEB + + @@ -158022,6 +183871,12 @@ dipeptidyl peptidase 1 CTSC + + + + CTSC + + @@ -158047,6 +183902,12 @@ NPTX1 + + + + NPTX1 + + @@ -158070,6 +183931,12 @@ GRID2 + + + + GRID2 + + @@ -158095,6 +183962,12 @@ MRPL12 + + + + MRPL12 + + @@ -158123,6 +183996,12 @@ interferon-alpha, -beta, and -omega receptor 2 IFNAR2 + + + + IFNAR2 + + @@ -158151,6 +184030,12 @@ dynamin 1 DNM1 + + + + DNM1 + + @@ -158186,6 +184071,12 @@ dynamin 2 DNM2 + + + + DNM2 + + @@ -158218,6 +184109,12 @@ PLD1 + + + + PLD1 + + @@ -158244,6 +184141,12 @@ TUFM + + + + TUFM + + @@ -158270,6 +184173,12 @@ This term has one or more labels that end with ', INCLUDED'. hemochromatosis, type 2a + + + + HFE2A + + @@ -158305,6 +184214,12 @@ fic gene 1 ATP8B1 + + + + ATP8B1 + + @@ -158351,6 +184266,12 @@ ichthyosis, congenital, autosomal recessive 11 ichthyosis, congenital, autosomal recessive 11 + + + + ARCI11 + + @@ -158368,6 +184289,12 @@ ectodermal dysplasia 8, hair/tooth/nail type ectodermal dysplasia 8, hair/tooth/nail type + + + + ECTD8 + + @@ -158392,6 +184319,12 @@ mesenchyme forkhead 1 FOXC2 + + + + FOXC2 + + @@ -158410,6 +184343,12 @@ parkinson disease 3, autosomal dominant lewy body parkinson disease 3, autosomal dominant + + + + PARK3 + + @@ -158446,6 +184385,12 @@ MLLT10 + + + + MLLT10 + + @@ -158471,6 +184416,12 @@ BRPF1 + + + + BRPF1 + + @@ -158494,6 +184445,12 @@ RPS24 + + + + RPS24 + + @@ -158531,6 +184488,12 @@ succinate dehydrogenase cytochrome B SDHC + + + + SDHC + + @@ -158590,6 +184553,12 @@ cystic fibrosis transmembrane conductance regulator CFTR + + + + CFTR + + @@ -158614,6 +184583,12 @@ TBX6 + + + + TBX6 + + @@ -158631,6 +184606,12 @@ glaucoma, primary open angle, adult-onset glaucoma 1, open angle, d + + + + GLC1D + + @@ -158669,6 +184650,12 @@ This term has one or more labels that end with ', INCLUDED'. ROBO1 + + + + ROBO1 + + @@ -158695,6 +184682,12 @@ ROBO2 + + + + ROBO2 + + @@ -158735,6 +184728,12 @@ transcription factor iiia-interacting protein OPTN + + + + OPTN + + @@ -158747,6 +184746,12 @@ neuronopathy, distal hereditary motor, with pyramidal features amyotrophic lateral sclerosis 4, juvenile + + + + ALS4 + + @@ -158770,6 +184775,12 @@ HSF4 + + + + HSF4 + + @@ -158825,6 +184836,12 @@ cytokine-inducible sh2-containing protein CISH + + + + CISH + + @@ -158850,6 +184867,12 @@ SERPINI1 + + + + SERPINI1 + + @@ -158866,6 +184889,12 @@ paraoxonase 2 PON2 + + + + PON2 + + @@ -158914,6 +184943,12 @@ mitotic checkpoint gene bub1 BUB1 + + + + BUB1 + + @@ -158957,6 +184992,12 @@ FADD + + + + FADD + + @@ -158985,6 +185026,12 @@ SORT1 + + + + SORT1 + + @@ -159009,6 +185056,12 @@ deafness, autosomal dominant 52 deafness, autosomal dominant 15 + + + + DFNA15 + + @@ -159034,6 +185087,12 @@ POU4F3 + + + + POU4F3 + + @@ -159058,6 +185117,12 @@ SPRY2 + + + + SPRY2 + + @@ -159088,6 +185153,12 @@ short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities + + + + SAMS + + @@ -159119,6 +185190,12 @@ encephalopathy, ethylmalonic encephalopathy, ethylmalonic + + + + EE + + @@ -159129,6 +185206,12 @@ ossification of the posterior longitudinal ligament of spine ossification of the posterior longitudinal ligament of spine + + + + OPLL + + @@ -159162,6 +185245,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized, susceptibility to, 17 + + + + EIG17 + + @@ -159186,6 +185275,12 @@ POU3F3 + + + + POU3F3 + + @@ -159200,6 +185295,12 @@ This term has one or more labels that end with ', INCLUDED'. migraine, familial hemiplegic, 2 + + + + FHM2 + + @@ -159214,6 +185315,12 @@ rieger syndrome, type 3 axenfeld-rieger syndrome, type 3 + + + + RIEG3 + + @@ -159238,6 +185345,12 @@ question mark ears syndrome auriculocondylar syndrome 1 + + + + ARCND1 + + @@ -159258,6 +185371,12 @@ hyperinsulinemic hypoglycemia, familial, 3 hyperinsulinemic hypoglycemia, familial, 3 + + + + HHF3 + + @@ -159282,6 +185401,12 @@ POP1 + + + + POP1 + + @@ -159306,6 +185431,12 @@ NRIP1 + + + + NRIP1 + + @@ -159329,6 +185460,12 @@ hyperlipidemia, familial combined, 1 hyperlipidemia, familial combined, 1 + + + + FCHL1 + + @@ -159372,6 +185509,12 @@ This term has one or more labels that end with ', INCLUDED'. TFG + + + + TFG + + @@ -159388,6 +185531,12 @@ macrophthalmia, colobomatous, with microcornea macrophthalmia, colobomatous, with microcornea + + + + MACOM + + @@ -159402,6 +185551,12 @@ megalencephaly-cutis marmorata telangiectatica congenita megalencephaly-capillary malformation-polymicrogyria syndrome + + + + MCAP + + @@ -159445,6 +185600,12 @@ USP7 + + + + USP7 + + @@ -159459,6 +185620,12 @@ This term has one or more labels that end with ', INCLUDED'. bartter syndrome, type 4a, neonatal, with sensorineural deafness + + + + BARTS4A + + @@ -159494,6 +185661,12 @@ TUBA1A + + + + TUBA1A + + @@ -159518,6 +185691,12 @@ grange syndrome grange syndrome + + + + GRNG + + @@ -159543,6 +185722,12 @@ DJ1 + + + + DJ1 + + @@ -159553,6 +185738,12 @@ marshall-smith syndrome marshall-smith syndrome + + + + MRSHSS + + @@ -159587,6 +185778,12 @@ warbm1 gene RAB3GAP1 + + + + RAB3GAP1 + + @@ -159611,6 +185808,12 @@ CAPN5 + + + + CAPN5 + + @@ -159637,6 +185840,12 @@ CELF2 + + + + CELF2 + + @@ -159670,6 +185879,12 @@ muscular dystrophy, congenital, with mitochondrial structural abnormalities muscular dystrophy, congenital, megaconial type + + + + MDCMC + + @@ -159707,6 +185922,12 @@ This term has one or more labels that end with ', INCLUDED'. PRKN + + + + PRKN + + @@ -159739,6 +185960,12 @@ NUP88 + + + + NUP88 + + @@ -159799,6 +186026,12 @@ spondyloepimetaphyseal dysplasia, shohat type spondyloepimetaphyseal dysplasia, shohat type + + + + SEMDSH + + @@ -159867,6 +186100,12 @@ msr MTRR + + + + MTRR + + @@ -159890,6 +186129,12 @@ SNCB + + + + SNCB + + @@ -159914,6 +186159,12 @@ JAG2 + + + + JAG2 + + @@ -159944,6 +186195,12 @@ autoantigen, 56-kd ANXA11 + + + + ANXA11 + + @@ -159972,6 +186229,12 @@ tectorin, alpha TECTA + + + + TECTA + + @@ -160001,6 +186264,12 @@ lmx1.2 LMX1B + + + + LMX1B + + @@ -160026,6 +186295,12 @@ LFNG + + + + LFNG + + @@ -160056,6 +186331,12 @@ slsj syndrome congenital disorder of glycosylation, type ib + + + + CDG1B + + @@ -160082,6 +186363,12 @@ GOLGA2 + + + + GOLGA2 + + @@ -160114,6 +186401,12 @@ This term has one or more labels that end with ', INCLUDED'. branchiootic syndrome 1 + + + + BOS1 + + @@ -160138,6 +186431,12 @@ FUT8 + + + + FUT8 + + @@ -160162,6 +186461,12 @@ PAK1 + + + + PAK1 + + @@ -160187,6 +186492,12 @@ KIF2A + + + + KIF2A + + @@ -160216,6 +186527,12 @@ s gene CDSN + + + + CDSN + + @@ -160233,6 +186550,12 @@ retinitis pigmentosa 22 retinitis pigmentosa 22 + + + + RP22 + + @@ -160275,6 +186598,12 @@ LRP8 + + + + LRP8 + + @@ -160300,6 +186629,12 @@ OLR1 + + + + OLR1 + + @@ -160341,6 +186676,12 @@ CARTPT + + + + CARTPT + + @@ -160404,6 +186745,12 @@ This term has one or more labels that end with ', INCLUDED'. MAP3K7 + + + + MAP3K7 + + @@ -160430,6 +186777,12 @@ MGAT2 + + + + MGAT2 + + @@ -160461,6 +186814,12 @@ titf2 FOXE1 + + + + FOXE1 + + @@ -160484,6 +186843,12 @@ CTBP1 + + + + CTBP1 + + @@ -160509,6 +186874,12 @@ FKBP5 + + + + FKBP5 + + @@ -160544,6 +186915,12 @@ CDC6 + + + + CDC6 + + @@ -160568,6 +186945,12 @@ torsion dystonia, adult-onset, mixed type dystonia 6, torsion + + + + DYT6 + + @@ -160593,6 +186976,12 @@ TGIF + + + + TGIF + + @@ -160633,6 +187022,12 @@ tumor-suppressing subchromosomal transferable fragment candidate gene 5 SLC22A18 + + + + SLC22A18 + + @@ -160665,6 +187060,12 @@ zinc finger mynd domain-containing protein 5 DEAF1 + + + + DEAF1 + + @@ -160691,6 +187092,12 @@ MCM4 + + + + MCM4 + + @@ -160709,6 +187116,12 @@ tooth agenesis, selective, 2 tooth agenesis, selective, 2 + + + + STHAG2 + + @@ -160736,6 +187149,12 @@ TNFSF11 + + + + TNFSF11 + + @@ -160761,6 +187180,12 @@ TNFRSF11B + + + + TNFRSF11B + + @@ -160789,6 +187214,12 @@ speckle-type btb/poz protein SPOP + + + + SPOP + + @@ -160814,6 +187245,12 @@ NTHL1 + + + + NTHL1 + + @@ -160847,6 +187284,12 @@ PDE2A + + + + PDE2A + + @@ -160873,6 +187316,12 @@ TUBB4B + + + + TUBB4B + + @@ -160903,6 +187352,12 @@ tubulin, beta-3 TUBB3 + + + + TUBB3 + + @@ -160933,6 +187388,12 @@ tubulin, beta-4a TUBB4A + + + + TUBB4A + + @@ -160957,6 +187418,12 @@ MYO15A + + + + MYO15A + + @@ -160993,6 +187460,12 @@ p95 protein of the mre11/rad50 complex NBN + + + + NBN + + @@ -161020,6 +187493,12 @@ ricker syndrome myotonic dystrophy 2 + + + + DM2 + + @@ -161049,6 +187528,12 @@ pituitary homeobox 3 PITX3 + + + + PITX3 + + @@ -161086,6 +187571,12 @@ solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 + + + + SLC37A4 + + @@ -161121,6 +187612,12 @@ PDE6D + + + + PDE6D + + @@ -161147,6 +187644,12 @@ MARK3 + + + + MARK3 + + @@ -161172,6 +187675,12 @@ PCYT2 + + + + PCYT2 + + @@ -161220,6 +187729,12 @@ tax-binding protein 181 MAD1L1 + + + + MAD1L1 + + @@ -161265,6 +187780,12 @@ succinate dehydrogenase complex, subunit d, integral membrane protein SDHD + + + + SDHD + + @@ -161291,6 +187812,12 @@ NDUFS4 + + + + NDUFS4 + + @@ -161316,6 +187843,12 @@ MCM5 + + + + MCM5 + + @@ -161351,6 +187884,12 @@ p300 EP300 + + + + EP300 + + @@ -161374,6 +187913,12 @@ KATNB1 + + + + KATNB1 + + @@ -161401,6 +187946,12 @@ MDM4 + + + + MDM4 + + @@ -161425,6 +187976,12 @@ PSMC1 + + + + PSMC1 + + @@ -161450,6 +188007,12 @@ ADAM9 + + + + ADAM9 + + @@ -161478,6 +188041,12 @@ LMOD1 + + + + LMOD1 + + @@ -161503,6 +188072,12 @@ NPHS1 + + + + NPHS1 + + @@ -161527,6 +188102,12 @@ GRIN2D + + + + GRIN2D + + @@ -161551,6 +188132,12 @@ rtadr renal tubular acidosis, distal, 3, with or without sensorineural hearing loss + + + + DRTA3 + + @@ -161562,6 +188149,12 @@ psoriasis 2 psoriasis 2 + + + + PSORS2 + + @@ -161586,6 +188179,12 @@ CLCN6 + + + + CLCN6 + + @@ -161621,6 +188220,12 @@ clc7 CLCN7 + + + + CLCN7 + + @@ -161645,6 +188250,12 @@ ACVR2B + + + + ACVR2B + + @@ -161672,6 +188283,12 @@ FYB1 + + + + FYB1 + + @@ -161698,6 +188315,12 @@ PLS1 + + + + PLS1 + + @@ -161724,6 +188347,12 @@ ATP5MC3 + + + + ATP5MC3 + + @@ -161760,6 +188389,12 @@ protein kinase, amp-activated, noncatalytic, gamma-2 PRKAG2 + + + + PRKAG2 + + @@ -161785,6 +188420,12 @@ GNPAT + + + + GNPAT + + @@ -161810,6 +188451,12 @@ DUSP6 + + + + DUSP6 + + @@ -161834,6 +188481,12 @@ PHOX2A + + + + PHOX2A + + @@ -161861,6 +188514,12 @@ KCNN4 + + + + KCNN4 + + @@ -161889,6 +188548,12 @@ PI4KB + + + + PI4KB + + @@ -161906,6 +188571,12 @@ prostate cancer, hereditary, 8 prostate cancer, hereditary, 8 + + + + HPC8 + + @@ -161939,6 +188610,12 @@ keratin, hard, type ii, 3 KRT83 + + + + KRT83 + + @@ -161967,6 +188644,12 @@ KRT85 + + + + KRT85 + + @@ -161992,6 +188675,12 @@ DLL3 + + + + DLL3 + + @@ -162026,6 +188715,12 @@ DNMT3A DNMT3A + + + + DNMT3A + + @@ -162051,6 +188746,12 @@ CBX2 + + + + CBX2 + + @@ -162083,6 +188784,12 @@ rigid spine syndrome congenital myopathy 3 with rigid spine + + + + CMYO3 + + @@ -162106,6 +188813,12 @@ retinitis pigmentosa 25 retinitis pigmentosa 25 + + + + RP25 + + @@ -162135,6 +188848,12 @@ rad51, s. cerevisiae, homolog of, c RAD51C + + + + RAD51C + + @@ -162160,6 +188879,12 @@ SHOC2 + + + + SHOC2 + + @@ -162186,6 +188911,12 @@ SNAPC4 + + + + SNAPC4 + + @@ -162216,6 +188947,12 @@ potassium channel, voltage-gated, brain, 1 HCN1 + + + + HCN1 + + @@ -162240,6 +188977,12 @@ potassium channel, voltage-gated, brain, 2 HCN2 + + + + HCN2 + + @@ -162296,6 +189039,12 @@ SPG7 + + + + SPG7 + + @@ -162340,6 +189089,12 @@ kinesin, heavy chain, neuron-specific KIF5A + + + + KIF5A + + @@ -162368,6 +189123,12 @@ H4C11 + + + + H4C11 + + @@ -162396,6 +189157,12 @@ H4C3 + + + + H4C3 + + @@ -162423,6 +189190,12 @@ H4C5 + + + + H4C5 + + @@ -162452,6 +189225,12 @@ H4C9 + + + + H4C9 + + @@ -162484,6 +189263,12 @@ GAS2 + + + + GAS2 + + @@ -162522,6 +189307,12 @@ pik3-delta PIK3CD + + + + PIK3CD + + @@ -162547,6 +189338,12 @@ CD70 + + + + CD70 + + @@ -162571,6 +189368,12 @@ GMNN + + + + GMNN + + @@ -162582,6 +189385,12 @@ muenke syndrome muenke syndrome + + + + MNKES + + @@ -162614,6 +189423,12 @@ very large g protein-coupled receptor 1 ADGRV1 + + + + ADGRV1 + + @@ -162640,6 +189455,12 @@ NUDT2 + + + + NUDT2 + + @@ -162666,6 +189487,12 @@ PSMA6 + + + + PSMA6 + + @@ -162690,6 +189517,12 @@ DHCR7 + + + + DHCR7 + + @@ -162719,6 +189552,12 @@ peroxisome biogenesis factor 10 PEX10 + + + + PEX10 + + @@ -162756,6 +189595,12 @@ mitotic checkpoint gene bub1b BUB1B + + + + BUB1B + + @@ -162779,6 +189624,12 @@ PKP2 + + + + PKP2 + + @@ -162806,6 +189657,12 @@ IGFBP7 + + + + IGFBP7 + + @@ -162831,6 +189688,12 @@ HNRNPU + + + + HNRNPU + + @@ -162860,6 +189723,12 @@ interphotoreceptor matrix proteoglycan 150 IMPG1 + + + + IMPG1 + + @@ -162873,6 +189742,12 @@ st. helena dysplasia acromesomelic dysplasia 1 + + + + AMD1 + + @@ -162896,6 +189771,12 @@ OCLN + + + + OCLN + + @@ -162920,6 +189801,12 @@ EPB41L1 + + + + EPB41L1 + + @@ -162948,6 +189835,12 @@ growth/differentiation factor 1 GDF1 + + + + GDF1 + + @@ -162974,6 +189867,12 @@ DLG4 + + + + DLG4 + + @@ -163010,6 +189909,12 @@ DNMT3B DNMT3B + + + + DNMT3B + + @@ -163036,6 +189941,12 @@ CACNG2 + + + + CACNG2 + + @@ -163063,6 +189974,12 @@ FARSA + + + + FARSA + + @@ -163096,6 +190013,12 @@ STXBP1 + + + + STXBP1 + + @@ -163132,6 +190055,12 @@ smad family member 6 SMAD6 + + + + SMAD6 + + @@ -163157,6 +190086,12 @@ SMAD7 + + + + SMAD7 + + @@ -163180,6 +190115,12 @@ FAAH + + + + FAAH + + @@ -163219,6 +190160,12 @@ p35srj CITED2 + + + + CITED2 + + @@ -163244,6 +190191,12 @@ BAAT + + + + BAAT + + @@ -163270,6 +190223,12 @@ RORC + + + + RORC + + @@ -163295,6 +190254,12 @@ NSD2 + + + + NSD2 + + @@ -163321,6 +190286,12 @@ RAD51D + + + + RAD51D + + @@ -163349,6 +190320,12 @@ TAF6 + + + + TAF6 + + @@ -163374,6 +190351,12 @@ FANCG + + + + FANCG + + @@ -163403,6 +190386,12 @@ eukaryotic translation elongation factor 1, alpha-2 EEF1A2 + + + + EEF1A2 + + @@ -163429,6 +190418,12 @@ orofacial cleft 2 orofacial cleft 2 + + + + OFC2 + + @@ -163455,6 +190450,12 @@ AQP7 + + + + AQP7 + + @@ -163492,6 +190493,12 @@ PHC1 + + + + PHC1 + + @@ -163516,6 +190523,12 @@ AEBP1 + + + + AEBP1 + + @@ -163541,6 +190554,12 @@ KCNN3 + + + + KCNN3 + + @@ -163570,6 +190589,12 @@ nadh-ubiquinone oxidoreductase fe-s protein 2 NDUFS2 + + + + NDUFS2 + + @@ -163594,6 +190619,12 @@ PDE1C + + + + PDE1C + + @@ -163641,6 +190672,12 @@ noggin, mouse, homolog of NOG + + + + NOG + + @@ -163679,6 +190716,12 @@ intrinsic factor-cobalamin receptor CUBN + + + + CUBN + + @@ -163704,6 +190747,12 @@ TNPO2 + + + + TNPO2 + + @@ -163743,6 +190792,12 @@ PAPSS2 + + + + PAPSS2 + + @@ -163777,6 +190832,12 @@ dysferlin DYSF + + + + DYSF + + @@ -163794,6 +190855,12 @@ deafness, autosomal recessive 17 deafness, autosomal recessive 17 + + + + DFNB17 + + @@ -163817,6 +190884,12 @@ schizophrenia susceptibility locus, chromosome 8p-related schizophrenia 6 + + + + SCZD6 + + @@ -163846,6 +190919,12 @@ transformation/transcription domain-associated protein TRRAP + + + + TRRAP + + @@ -163874,6 +190953,12 @@ IKZF1 + + + + IKZF1 + + @@ -163903,6 +190988,12 @@ ARID1A + + + + ARID1A + + @@ -163931,6 +191022,12 @@ PICALM + + + + PICALM + + @@ -163964,6 +191061,12 @@ This term has one or more labels that end with ', INCLUDED'. PLAG1 + + + + PLAG1 + + @@ -163989,6 +191092,12 @@ FBP2 + + + + FBP2 + + @@ -164024,6 +191133,12 @@ toll/interleukin 1 receptor-like 4 TLR2 + + + + TLR2 + + @@ -164052,6 +191167,12 @@ toll-like receptor 3 TLR3 + + + + TLR3 + + @@ -164087,6 +191208,12 @@ toll/interleukin 1 receptor-like 5 TLR5 + + + + TLR5 + + @@ -164111,6 +191238,12 @@ COLQ + + + + COLQ + + @@ -164139,6 +191272,12 @@ myasthenic syndrome, congenital, engel type myasthenic syndrome, congenital, 5 + + + + CMS5 + + @@ -164193,6 +191332,12 @@ polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction mitochondrial DNA depletion syndrome 1 (mngie type) + + + + MTDPS1 + + @@ -164233,6 +191378,12 @@ RNF139 + + + + RNF139 + + @@ -164266,6 +191417,12 @@ GPAA1 + + + + GPAA1 + + @@ -164291,6 +191448,12 @@ AGPS + + + + AGPS + + @@ -164316,6 +191479,12 @@ ORC4 + + + + ORC4 + + @@ -164348,6 +191517,12 @@ protocadherin 16 DCHS1 + + + + DCHS1 + + @@ -164373,6 +191548,12 @@ KIF1C + + + + KIF1C + + @@ -164398,6 +191579,12 @@ PLOD3 + + + + PLOD3 + + @@ -164436,6 +191623,12 @@ AURKA + + + + AURKA + + @@ -164460,6 +191653,12 @@ ZIC2 + + + + ZIC2 + + @@ -164484,6 +191683,12 @@ maculopathy, age-related, 1 macular degeneration, age-related, 1 + + + + ARMD1 + + @@ -164518,6 +191723,12 @@ CHEK1 + + + + CHEK1 + + @@ -164551,6 +191762,12 @@ DARS1 + + + + DARS1 + + @@ -164575,6 +191792,12 @@ SLC31A1 + + + + SLC31A1 + + @@ -164618,6 +191841,12 @@ brca1-associated protein 1 BAP1 + + + + BAP1 + + @@ -164654,6 +191883,12 @@ udp-gal:beta-glcnac beta-1,3-galactosyltransferase, polypeptide 3 B3GALNT1 + + + + B3GALNT1 + + @@ -164680,6 +191915,12 @@ deafness, autosomal recessive 13 deafness, autosomal recessive 13 + + + + DFNB13 + + @@ -164705,6 +191946,12 @@ AGPAT2 + + + + AGPAT2 + + @@ -164734,6 +191981,12 @@ CPN1 + + + + CPN1 + + @@ -164759,6 +192012,12 @@ TCF20 + + + + TCF20 + + @@ -164784,6 +192043,12 @@ SMAD3 + + + + SMAD3 + + @@ -164813,6 +192078,12 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily e, member 1 SMARCE1 + + + + SMARCE1 + + @@ -164837,6 +192108,12 @@ PPP2R1B + + + + PPP2R1B + + @@ -164898,6 +192175,12 @@ DOCK2 + + + + DOCK2 + + @@ -164922,6 +192205,12 @@ DOCK3 + + + + DOCK3 + + @@ -164946,6 +192235,12 @@ PMPCB + + + + PMPCB + + @@ -164984,6 +192279,12 @@ cullin 3 CUL3 + + + + CUL3 + + @@ -165019,6 +192320,12 @@ PPFIBP1 + + + + PPFIBP1 + + @@ -165045,6 +192352,12 @@ congenital disorder of glycosylation, type ic congenital disorder of glycosylation, type ic + + + + CDG1C + + @@ -165071,6 +192384,12 @@ ATP5F1D + + + + ATP5F1D + + @@ -165095,6 +192414,12 @@ PTPN14 + + + + PTPN14 + + @@ -165122,6 +192447,12 @@ PIK3R2 + + + + PIK3R2 + + @@ -165148,6 +192479,12 @@ USP8 + + + + USP8 + + @@ -165177,6 +192514,12 @@ peroxisome biogenesis factor 3 PEX3 + + + + PEX3 + + @@ -165230,6 +192573,12 @@ schizophrenia susceptibility locus, chromosome 6q-related schizophrenia 5 + + + + SCZD5 + + @@ -165254,6 +192603,12 @@ schizophrenia susceptibility locus, chromosome 13q-related schizophrenia 7 + + + + SCZD7 + + @@ -165278,6 +192633,12 @@ ALDH6A1 + + + + ALDH6A1 + + @@ -165307,6 +192668,12 @@ reticulon 2 RTN2 + + + + RTN2 + + @@ -165331,6 +192698,12 @@ CDK8 + + + + CDK8 + + @@ -165348,6 +192721,12 @@ obesity, susceptibility to body mass index quantitative trait locus 8 + + + + BMIQ8 + + @@ -165373,6 +192752,12 @@ STX5 + + + + STX5 + + @@ -165402,6 +192787,12 @@ cilia- and flagella-associated protein 410 CFAP410 + + + + CFAP410 + + @@ -165414,6 +192805,12 @@ meckel-gruber syndrome, type 2 meckel syndrome, type 2 + + + + MKS2 + + @@ -165444,6 +192841,12 @@ cochlin COCH + + + + COCH + + @@ -165486,6 +192889,12 @@ patatin-like phospholipase domain-containing protein 6 PNPLA6 + + + + PNPLA6 + + @@ -165511,6 +192920,12 @@ CAVIN1 + + + + CAVIN1 + + @@ -165534,6 +192949,12 @@ RFXANK + + + + RFXANK + + @@ -165564,6 +192985,12 @@ sister of p-glycoprotein ABCB11 + + + + ABCB11 + + @@ -165589,6 +193016,12 @@ LCT + + + + LCT + + @@ -165606,6 +193039,12 @@ epilepsy, nocturnal frontal lobe, 2 epilepsy, nocturnal frontal lobe, 2 + + + + ENFL2 + + @@ -165630,6 +193069,12 @@ schizophrenia susceptibility locus, chromosome 18-related schizophrenia 8 + + + + SCZD8 + + @@ -165659,6 +193104,12 @@ potassium channel, inwardly rectifying, subfamily j, member 13 KCNJ13 + + + + KCNJ13 + + @@ -165673,6 +193124,12 @@ cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene + + + + CMAHP + + @@ -165701,6 +193158,12 @@ BFSP2 + + + + BFSP2 + + @@ -165728,6 +193191,12 @@ KIF22 + + + + KIF22 + + @@ -165754,6 +193223,12 @@ ABCD4 + + + + ABCD4 + + @@ -165767,6 +193242,12 @@ prion disease, early-onset, with prominent psychiatric features huntington disease-like 1 + + + + HDL1 + + @@ -165792,6 +193273,12 @@ KCNK3 + + + + KCNK3 + + @@ -165809,6 +193296,12 @@ myopia 3, autosomal dominant myopia 3, autosomal dominant + + + + MYP3 + + @@ -165844,6 +193337,12 @@ pseudohypoparathyroidism, type 1b pseudohypoparathyroidism, type 1b + + + + PHP1B + + @@ -165880,6 +193379,12 @@ multidrug resistance-associated protein 6 ABCC6 + + + + ABCC6 + + @@ -165904,6 +193409,12 @@ MVD + + + + MVD + + @@ -165928,6 +193439,12 @@ AMFR + + + + AMFR + + @@ -165963,6 +193480,12 @@ bone morphogenetic protein receptor, type 1b BMPR1B + + + + BMPR1B + + @@ -165989,6 +193512,12 @@ FOXL1 + + + + FOXL1 + + @@ -166025,6 +193554,12 @@ swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 SMARCA4 + + + + SMARCA4 + + @@ -166058,6 +193593,12 @@ nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, kinase of, beta IKBKB + + + + IKBKB + + @@ -166091,6 +193632,12 @@ CA12 + + + + CA12 + + @@ -166109,6 +193656,12 @@ type 1 diabetes mellitus 17 type 1 diabetes mellitus 17 + + + + TID17 + + @@ -166133,6 +193686,12 @@ CAPN15 + + + + CAPN15 + + @@ -166200,6 +193759,12 @@ tumor protein p73-like TP63 + + + + TP63 + + @@ -166230,6 +193795,12 @@ regulator of g protein signaling 5 RGS5 + + + + RGS5 + + @@ -166254,6 +193825,12 @@ CHD4 + + + + CHD4 + + @@ -166278,6 +193855,12 @@ glomerulosclerosis, focal segmental, 1 focal segmental glomerulosclerosis 1 + + + + FSGS1 + + @@ -166300,6 +193883,12 @@ This term has one or more labels that end with ', INCLUDED'. zinc finger protein 204 + + + + ZNF204 + + @@ -166324,6 +193913,12 @@ TRDN + + + + TRDN + + @@ -166347,6 +193942,12 @@ cerebral cavernous malformations 2 cerebral cavernous malformations 2 + + + + CCM2 + + @@ -166370,6 +193971,12 @@ cerebral cavernous malformations 3 cerebral cavernous malformations 3 + + + + CCM3 + + @@ -166395,6 +194002,12 @@ KISS1 + + + + KISS1 + + @@ -166420,6 +194033,12 @@ PNPO + + + + PNPO + + @@ -166443,6 +194062,12 @@ KERA + + + + KERA + + @@ -166467,6 +194092,12 @@ SHANK2 + + + + SHANK2 + + @@ -166492,6 +194123,12 @@ MCM3AP + + + + MCM3AP + + @@ -166519,6 +194156,12 @@ SMAD9 + + + + SMAD9 + + @@ -166544,6 +194187,12 @@ DYNC2H1 + + + + DYNC2H1 + + @@ -166579,6 +194228,12 @@ KLF11 + + + + KLF11 + + @@ -166609,6 +194264,12 @@ potassium channel, voltage-gated, subfamily h, member 1 KCNH1 + + + + KCNH1 + + @@ -166634,6 +194295,12 @@ BFSP1 + + + + BFSP1 + + @@ -166660,6 +194327,12 @@ CDK13 + + + + CDK13 + + @@ -166686,6 +194359,12 @@ ALG10B + + + + ALG10B + + @@ -166715,6 +194394,12 @@ protein-tyrosine phosphatase, receptor-type, q PTPRQ + + + + PTPRQ + + @@ -166769,6 +194454,12 @@ gap junction protein, beta-3 GJB3 + + + + GJB3 + + @@ -166803,6 +194494,12 @@ DNAH9 + + + + DNAH9 + + @@ -166828,6 +194525,12 @@ DYNC1I2 + + + + DYNC1I2 + + @@ -166859,6 +194562,12 @@ hl11 DNAH1 + + + + DNAH1 + + @@ -166883,6 +194592,12 @@ DNAH2 + + + + DNAH2 + + @@ -166907,6 +194622,12 @@ DNAH5 + + + + DNAH5 + + @@ -166931,6 +194652,12 @@ DNAH8 + + + + DNAH8 + + @@ -166966,6 +194693,12 @@ DNAH11 + + + + DNAH11 + + @@ -166989,6 +194722,12 @@ schizophrenia susceptibility locus, chromosome 11q-related schizophrenia 2 + + + + SCZD2 + + @@ -167018,6 +194757,12 @@ SLC4A4 + + + + SLC4A4 + + @@ -167044,6 +194789,12 @@ EPAS1 + + + + EPAS1 + + @@ -167068,6 +194819,12 @@ MBTPS1 + + + + MBTPS1 + + @@ -167093,6 +194850,12 @@ CD164 + + + + CD164 + + @@ -167117,6 +194880,12 @@ SERPINB7 + + + + SERPINB7 + + @@ -167154,6 +194923,12 @@ NDUFA8 + + + + NDUFA8 + + @@ -167183,6 +194958,12 @@ peroxisome biogenesis factor 16 PEX16 + + + + PEX16 + + @@ -167218,6 +194999,12 @@ CDK6 + + + + CDK6 + + @@ -167242,6 +195029,12 @@ UGDH + + + + UGDH + + @@ -167272,6 +195065,12 @@ gle1-like protein GLE1 + + + + GLE1 + + @@ -167302,6 +195101,12 @@ thyrotropin receptor TSHR + + + + TSHR + + @@ -167352,6 +195157,12 @@ SLC22A5 + + + + SLC22A5 + + @@ -167404,6 +195215,12 @@ This term has one or more labels that end with ', INCLUDED'. FLNB + + + + FLNB + + @@ -167433,6 +195250,12 @@ muts, e. coli, homolog of, 5 MSH5 + + + + MSH5 + + @@ -167456,6 +195279,12 @@ glaucoma, primary open angle, adult-onset glaucoma 1, open angle, f + + + + GLC1F + + @@ -167483,6 +195312,12 @@ SYNGAP1 + + + + SYNGAP1 + + @@ -167507,6 +195342,12 @@ NAE1 + + + + NAE1 + + @@ -167550,6 +195391,12 @@ megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 + + + + MPPH1 + + @@ -167603,6 +195450,12 @@ phosphodiesterase 8b PDE8B + + + + PDE8B + + @@ -167653,6 +195506,12 @@ SPAG1 + + + + SPAG1 + + @@ -167686,6 +195545,12 @@ CCN6 + + + + CCN6 + + @@ -167712,6 +195577,12 @@ AP3B1 + + + + AP3B1 + + @@ -167741,6 +195612,12 @@ DHX16 + + + + DHX16 + + @@ -167765,6 +195642,12 @@ FZD6 + + + + FZD6 + + @@ -167803,6 +195686,12 @@ sodium voltage-gated channel, alpha subunit 9 SCN9A + + + + SCN9A + + @@ -167813,6 +195702,12 @@ ribosomal protein l21 pseudogene 1 ribosomal protein l21 pseudogene 1 + + + + RPL21P1 + + @@ -167837,6 +195732,12 @@ PDLIM4 + + + + PDLIM4 + + @@ -167863,6 +195764,12 @@ PRKRA + + + + PRKRA + + @@ -167887,6 +195794,12 @@ PER2 + + + + PER2 + + @@ -167911,6 +195824,12 @@ PER3 + + + + PER3 + + @@ -167964,6 +195883,12 @@ DAB1 + + + + DAB1 + + @@ -168002,6 +195927,12 @@ rip1 RIPK1 + + + + RIPK1 + + @@ -168027,6 +195958,12 @@ CRADD + + + + CRADD + + @@ -168052,6 +195989,12 @@ DPH2 + + + + DPH2 + + @@ -168063,6 +196006,12 @@ bosma arhinia microphthalmia syndrome bosma arhinia microphthalmia syndrome + + + + BAMS + + @@ -168105,6 +196054,12 @@ CDK10 + + + + CDK10 + + @@ -168131,6 +196086,12 @@ CDC45 + + + + CDC45 + + @@ -168154,6 +196115,12 @@ fanconi anemia, complementation group f fanconi anemia, complementation group f + + + + FANCF + + @@ -168197,6 +196164,12 @@ ASS1 + + + + ASS1 + + @@ -168209,6 +196182,12 @@ citrullinemia, type ii, adult-onset citrullinemia, type ii, adult-onset + + + + CTLN2 + + @@ -168219,6 +196198,12 @@ neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease + + + + NIID + + @@ -168242,6 +196227,12 @@ RPS19 + + + + RPS19 + + @@ -168277,6 +196268,12 @@ NFS1 + + + + NFS1 + + @@ -168304,6 +196301,12 @@ CILP + + + + CILP + + @@ -168332,6 +196335,12 @@ wingless-type mmtv integration site family, member 4 WNT4 + + + + WNT4 + + @@ -168355,6 +196364,12 @@ IGSF3 + + + + IGSF3 + + @@ -168381,6 +196396,12 @@ AURKC + + + + AURKC + + @@ -168421,6 +196442,12 @@ tumor necrosis factor receptor superfamily, member 11a TNFRSF11A + + + + TNFRSF11A + + @@ -168447,6 +196474,12 @@ DPM1 + + + + DPM1 + + @@ -168471,6 +196504,12 @@ CDC14A + + + + CDC14A + + @@ -168525,6 +196564,12 @@ lr3 LRP5 + + + + LRP5 + + @@ -168553,6 +196598,12 @@ low density lipoprotein receptor-related protein 6 LRP6 + + + + LRP6 + + @@ -168588,6 +196639,12 @@ muscular dystrophy, limb-girdle, type 1e muscular dystrophy, limb-girdle, autosomal dominant 1 + + + + LGMDD1 + + @@ -168621,6 +196678,12 @@ spinocerebellar ataxia 10 spinocerebellar ataxia 10 + + + + SCA10 + + @@ -168668,6 +196731,12 @@ b-cell leukemia/lymphoma 10 BCL10 + + + + BCL10 + + @@ -168696,6 +196765,12 @@ tia1 cytotoxic granule-associated rna-binding protein TIA1 + + + + TIA1 + + @@ -168732,6 +196807,12 @@ DPH1 + + + + DPH1 + + @@ -168785,6 +196866,12 @@ AP1S1 + + + + AP1S1 + + @@ -168824,6 +196911,12 @@ clathrin-associated/assembly/adaptor protein, large, gamma-1 AP1G1 + + + + AP1G1 + + @@ -168848,6 +196941,12 @@ KCNQ4 + + + + KCNQ4 + + @@ -168871,6 +196970,12 @@ CTSF + + + + CTSF + + @@ -168896,6 +197001,12 @@ GABBR1 + + + + GABBR1 + + @@ -168906,6 +197017,12 @@ limb-mammary syndrome limb-mammary syndrome + + + + LMS + + @@ -168930,6 +197047,12 @@ CCNK + + + + CCNK + + @@ -168965,6 +197088,12 @@ spondyloepimetaphyseal dysplasia with multiple dislocations, hall type spondyloepimetaphyseal dysplasia with joint laxity, type 2 + + + + SEMDJL2 + + @@ -168995,6 +197124,12 @@ eyes absent, drosophila, homolog of, 4 EYA4 + + + + EYA4 + + @@ -169020,6 +197155,12 @@ hplh4 hemophagocytic lymphohistiocytosis, familial, 4 + + + + FHL4 + + @@ -169033,6 +197174,12 @@ hplh2 hemophagocytic lymphohistiocytosis, familial, 2 + + + + FHL2 + + @@ -169077,6 +197224,12 @@ MTMR2 + + + + MTMR2 + + @@ -169101,6 +197254,12 @@ SBF1 + + + + SBF1 + + @@ -169112,6 +197271,12 @@ spastic paraplegia 8, autosomal dominant spastic paraplegia 8, autosomal dominant + + + + SPG8 + + @@ -169137,6 +197302,12 @@ DPM2 + + + + DPM2 + + @@ -169185,6 +197356,12 @@ methyl-cpg-binding endonuclease MBD4 + + + + MBD4 + + @@ -169212,6 +197389,12 @@ NME5 + + + + NME5 + + @@ -169236,6 +197419,12 @@ TRPM1 + + + + TRPM1 + + @@ -169268,6 +197457,12 @@ rab3 gdp/gtp exchange protein MADD + + + + MADD + + @@ -169292,6 +197487,12 @@ congenital disorder of glycosylation, type iif congenital disorder of glycosylation, type iif + + + + CDG2F + + @@ -169359,6 +197560,12 @@ like-glycosyltransferase LARGE1 + + + + LARGE1 + + @@ -169383,6 +197590,12 @@ xanthinuria, type 2 xanthinuria, type 2 + + + + XAN2 + + @@ -169408,6 +197621,12 @@ SLC7A7 + + + + SLC7A7 + + @@ -169434,6 +197653,12 @@ TNFSF4 + + + + TNFSF4 + + @@ -169479,6 +197704,12 @@ SOCS1 + + + + SOCS1 + + @@ -169512,6 +197743,12 @@ PIK3C2A + + + + PIK3C2A + + @@ -169550,6 +197787,12 @@ phospholipase a2, group 6 PLA2G6 + + + + PLA2G6 + + @@ -169576,6 +197819,12 @@ AIMP1 + + + + AIMP1 + + @@ -169603,6 +197852,12 @@ TNFRSF10B + + + + TNFRSF10B + + @@ -169633,6 +197888,12 @@ rad54-like RAD54L + + + + RAD54L + + @@ -169657,6 +197918,12 @@ SLC24A1 + + + + SLC24A1 + + @@ -169682,6 +197949,12 @@ CDC20 + + + + CDC20 + + @@ -169709,6 +197982,12 @@ FZR1 + + + + FZR1 + + @@ -169722,6 +198001,12 @@ This term has one or more labels that end with ', INCLUDED'. deafness, autosomal dominant 17 + + + + DFNA17 + + @@ -169754,6 +198039,12 @@ yts YARS1 + + + + YARS1 + + @@ -169765,6 +198056,12 @@ deafness, autosomal recessive 21 deafness, autosomal recessive 21 + + + + DFNB21 + + @@ -169788,6 +198085,12 @@ RPS10 + + + + RPS10 + + @@ -169811,6 +198114,12 @@ RPS29 + + + + RPS29 + + @@ -169834,6 +198143,12 @@ RPL5 + + + + RPL5 + + @@ -169857,6 +198172,12 @@ RPL21 + + + + RPL21 + + @@ -169881,6 +198202,12 @@ ADAM17 + + + + ADAM17 + + @@ -169935,6 +198262,12 @@ SCO1 + + + + SCO1 + + @@ -169961,6 +198294,12 @@ GATB + + + + GATB + + @@ -169985,6 +198324,12 @@ COX15 + + + + COX15 + + @@ -170020,6 +198365,12 @@ bcs1, s. cerevisiae, homolog-like BCS1L + + + + BCS1L + + @@ -170045,6 +198396,12 @@ COX11 + + + + COX11 + + @@ -170062,6 +198419,12 @@ cone-rod dystrophy 7 cone-rod dystrophy 7 + + + + CORD7 + + @@ -170085,6 +198448,12 @@ BBS5 + + + + BBS5 + + @@ -170109,6 +198478,12 @@ TRPC6 + + + + TRPC6 + + @@ -170159,6 +198534,12 @@ RPS7 + + + + RPS7 + + @@ -170215,6 +198596,12 @@ STX16 + + + + STX16 + + @@ -170240,6 +198627,12 @@ SLC25A12 + + + + SLC25A12 + + @@ -170268,6 +198661,12 @@ acromelic frontonasal dysostosis acromelic frontonasal dysostosis + + + + AFND + + @@ -170297,6 +198696,12 @@ patched, drosophila, homolog of, 2 PTCH2 + + + + PTCH2 + + @@ -170320,6 +198725,12 @@ RPS15A + + + + RPS15A + + @@ -170346,6 +198757,12 @@ deafness, autosomal recessive 14 deafness, autosomal recessive 14 + + + + DFNB14 + + @@ -170376,6 +198793,12 @@ sca8 gene ATXN8OS + + + + ATXN8OS + + @@ -170398,6 +198821,12 @@ otoferlin OTOF + + + + OTOF + + @@ -170421,6 +198850,12 @@ RPS23 + + + + RPS23 + + @@ -170444,6 +198879,12 @@ RPS28 + + + + RPS28 + + @@ -170468,6 +198909,12 @@ ALDH1A2 + + + + ALDH1A2 + + @@ -170494,6 +198941,12 @@ myopathy, proximal, with early respiratory muscle involvement myopathy, myofibrillar, 9, with early respiratory failure + + + + MFM9 + + @@ -170524,6 +198977,12 @@ solute carrier family 33 (acetyl-coa transporter), member 1 SLC33A1 + + + + SLC33A1 + + @@ -170563,6 +199022,12 @@ This term has one or more labels that end with ', INCLUDED'. ZFPM2 + + + + ZFPM2 + + @@ -170581,6 +199046,12 @@ type 2 diabetes mellitus 3 type 2 diabetes mellitus 3 + + + + T2D3 + + @@ -170605,6 +199076,12 @@ GBF1 + + + + GBF1 + + @@ -170630,6 +199107,12 @@ ALOX5AP + + + + ALOX5AP + + @@ -170653,6 +199136,12 @@ RPS26 + + + + RPS26 + + @@ -170677,6 +199166,12 @@ RPS27 + + + + RPS27 + + @@ -170700,6 +199195,12 @@ RPL26 + + + + RPL26 + + @@ -170726,6 +199227,12 @@ MOCS1 + + + + MOCS1 + + @@ -170751,6 +199258,12 @@ MOCS2 + + + + MOCS2 + + @@ -170775,6 +199288,12 @@ ADAM22 + + + + ADAM22 + + @@ -170804,6 +199323,12 @@ oxysterol 7-alpha-hydroxylase 1 CYP7B1 + + + + CYP7B1 + + @@ -170833,6 +199358,12 @@ six homeobox 3 SIX3 + + + + SIX3 + + @@ -170863,6 +199394,12 @@ glial cells missing, drosophila, homolog of, 2 GCM2 + + + + GCM2 + + @@ -170887,6 +199424,12 @@ CLDN1 + + + + CLDN1 + + @@ -170910,6 +199453,12 @@ deafness, autosomal recessive 16 deafness, autosomal recessive 16 + + + + DFNB16 + + @@ -170942,6 +199491,12 @@ inhibitor of kappa light polypeptide gene enhancer 1n B cells, kinase complex-associated protein ELP1 + + + + ELP1 + + @@ -170983,6 +199538,12 @@ FGF17 + + + + FGF17 + + @@ -171008,6 +199569,12 @@ QARS1 + + + + QARS1 + + @@ -171032,6 +199599,12 @@ SGPL1 + + + + SGPL1 + + @@ -171055,6 +199628,12 @@ IRF3 + + + + IRF3 + + @@ -171067,6 +199646,12 @@ young-simpson syndrome ohdo syndrome, sbbys variant + + + + SBBYSS + + @@ -171087,6 +199672,12 @@ basic transcription factor 3-like 2 basic transcription factor 3 pseudogene 12 + + + + BTF3P12 + + @@ -171098,6 +199689,12 @@ basic transcription factor 3-like 3 basic transcription factor 3 pseudogene 13 + + + + BTF3P13 + + @@ -171133,6 +199730,12 @@ ALOX12B + + + + ALOX12B + + @@ -171159,6 +199762,12 @@ APOL1 + + + + APOL1 + + @@ -171201,6 +199810,12 @@ UBE4A + + + + UBE4A + + @@ -171225,6 +199840,12 @@ KIF3B + + + + KIF3B + + @@ -171256,6 +199877,12 @@ mitoxantrone-resistance protein ABCG2 + + + + ABCG2 + + @@ -171281,6 +199908,12 @@ GSTZ1 + + + + GSTZ1 + + @@ -171308,6 +199941,12 @@ KLK4 + + + + KLK4 + + @@ -171325,6 +199964,12 @@ tml1 TCL1B + + + + TCL1B + + @@ -171349,6 +199994,12 @@ COX5A + + + + COX5A + + @@ -171364,6 +200015,12 @@ This term has one or more labels that end with ', INCLUDED'. hypercholesterolemia, familial, 3 + + + + FHCL3 + + @@ -171399,6 +200056,12 @@ recq protein-like 4 RECQL4 + + + + RECQL4 + + @@ -171443,6 +200106,12 @@ MPDZ + + + + MPDZ + + @@ -171453,6 +200122,12 @@ stargardt disease 4 stargardt disease 4 + + + + STGD4 + + @@ -171516,6 +200191,12 @@ LITAF + + + + LITAF + + @@ -171546,6 +200227,12 @@ potassium channel, voltage-gated, isk-related subfamily, member 2 KCNE2 + + + + KCNE2 + + @@ -171571,6 +200258,12 @@ CHST3 + + + + CHST3 + + @@ -171604,6 +200297,12 @@ TGM5 + + + + TGM5 + + @@ -171647,6 +200346,12 @@ MED13 + + + + MED13 + + @@ -171675,6 +200380,12 @@ MED17 + + + + MED17 + + @@ -171699,6 +200410,12 @@ BANF1 + + + + BANF1 + + @@ -171727,6 +200444,12 @@ hypercholesterolemia, familial, 4 hypercholesterolemia, familial, 4 + + + + FHCL4 + + @@ -171763,6 +200486,12 @@ fused, mouse, homolog of AXIN1 + + + + AXIN1 + + @@ -171798,6 +200527,12 @@ udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase GNE + + + + GNE + + @@ -171825,6 +200560,12 @@ NR1H4 + + + + NR1H4 + + @@ -171848,6 +200589,12 @@ This term has one or more labels that end with ', INCLUDED'. ventricular fibrillation, paroxysmal familial, 1 + + + + VF1 + + @@ -171863,6 +200610,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 3 + + + + LQT3 + + @@ -171890,6 +200643,12 @@ COXFA4 + + + + COXFA4 + + @@ -171914,6 +200673,12 @@ NDUFA9 + + + + NDUFA9 + + @@ -171938,6 +200703,12 @@ NDUFA10 + + + + NDUFA10 + + @@ -171962,6 +200733,12 @@ NDUFB3 + + + + NDUFB3 + + @@ -171986,6 +200763,12 @@ NDUFB7 + + + + NDUFB7 + + @@ -172010,6 +200793,12 @@ NDUFB10 + + + + NDUFB10 + + @@ -172034,6 +200823,12 @@ NDUFC2 + + + + NDUFC2 + + @@ -172058,6 +200853,12 @@ NDUFS3 + + + + NDUFS3 + + @@ -172082,6 +200883,12 @@ NDUFS6 + + + + NDUFS6 + + @@ -172114,6 +200921,12 @@ s. cerevisiae dnm1/vps1-like protein DNM1L + + + + DNM1L + + @@ -172144,6 +200957,12 @@ paired-like homeobox 2b PHOX2B + + + + PHOX2B + + @@ -172162,6 +200981,12 @@ This term has one or more labels that end with ', INCLUDED'. cystic fibrosis, modifier of, 1 + + + + CFM1 + + @@ -172186,6 +201011,12 @@ MKRN3 + + + + MKRN3 + + @@ -172224,6 +201055,12 @@ solute carrier family 25 (citrin), member 13 SLC25A13 + + + + SLC25A13 + + @@ -172257,6 +201094,12 @@ SLC25A15 + + + + SLC25A15 + + @@ -172281,6 +201124,12 @@ PEX11B + + + + PEX11B + + @@ -172306,6 +201155,12 @@ RAB27A + + + + RAB27A + + @@ -172330,6 +201185,12 @@ PLAA + + + + PLAA + + @@ -172358,6 +201219,12 @@ bcl2-associated athanogene 3 BAG3 + + + + BAG3 + + @@ -172382,6 +201249,12 @@ BAG5 + + + + BAG5 + + @@ -172407,6 +201280,12 @@ TIMELESS + + + + TIMELESS + + @@ -172433,6 +201312,12 @@ EFTUD2 + + + + EFTUD2 + + @@ -172458,6 +201343,12 @@ vanishing white matter leukodystrophy leukoencephalopathy with vanishing white matter 1 + + + + VWM1 + + @@ -172482,6 +201373,12 @@ ZPR1 + + + + ZPR1 + + @@ -172538,6 +201435,12 @@ integral membrane protein 2b ITM2B + + + + ITM2B + + @@ -172549,6 +201452,12 @@ autoimmune lymphoproliferative syndrome, type 2a autoimmune lymphoproliferative syndrome, type 2a + + + + ALPS2A + + @@ -172574,6 +201483,12 @@ EIF3F + + + + EIF3F + + @@ -172621,6 +201536,12 @@ SUCLA2 + + + + SUCLA2 + + @@ -172661,6 +201582,12 @@ hyaluronic acid-binding protein 2 HABP2 + + + + HABP2 + + @@ -172688,6 +201615,12 @@ GPHN + + + + GPHN + + @@ -172714,6 +201647,12 @@ This term has one or more labels that end with ', INCLUDED'. intervertebral disc disease + + + + IDD + + @@ -172747,6 +201686,12 @@ This term has one or more labels that end with ', INCLUDED'. microvascular complications of diabetes, susceptibility to, 1 + + + + MVCD1 + + @@ -172764,6 +201709,12 @@ psoriasis 4, susceptibility to psoriasis 4, susceptibility to + + + + PSORS4 + + @@ -172788,6 +201739,12 @@ GDF11 + + + + GDF11 + + @@ -172813,6 +201770,12 @@ RP1 + + + + RP1 + + @@ -172846,6 +201809,12 @@ SLC19A2 + + + + SLC19A2 + + @@ -172874,6 +201843,12 @@ glycogenin 1 GYG1 + + + + GYG1 + + @@ -172899,6 +201874,12 @@ EIF2B5 + + + + EIF2B5 + + @@ -172925,6 +201906,12 @@ HELLS + + + + HELLS + + @@ -172949,6 +201936,12 @@ KCNMB1 + + + + KCNMB1 + + @@ -172974,6 +201967,12 @@ DRG1 + + + + DRG1 + + @@ -173007,6 +202006,12 @@ CLDN16 + + + + CLDN16 + + @@ -173030,6 +202035,12 @@ CCIN + + + + CCIN + + @@ -173056,6 +202067,12 @@ SEMA3A + + + + SEMA3A + + @@ -173079,6 +202096,12 @@ RASGRP1 + + + + RASGRP1 + + @@ -173096,6 +202119,12 @@ deafness, autosomal dominant 16 deafness, autosomal dominant 16 + + + + DFNA16 + + @@ -173120,6 +202149,12 @@ glomerulosclerosis, focal segmental, 2 focal segmental glomerulosclerosis 2 + + + + FSGS2 + + @@ -173180,6 +202215,12 @@ sodium voltage-gated channel, alpha subunit 4 SCN4A + + + + SCN4A + + @@ -173204,6 +202245,12 @@ POLH + + + + POLH + + @@ -173214,6 +202261,12 @@ zinc finger protein 94 zinc finger protein 94 + + + + ZNF94 + + @@ -173224,6 +202277,12 @@ zinc finger protein 97 zinc finger protein 97 + + + + ZNF97 + + @@ -173234,6 +202293,12 @@ zinc finger protein 103 zinc finger protein 103 + + + + ZNF103 + + @@ -173254,6 +202319,12 @@ zinc finger protein 105 zinc finger protein 105 + + + + ZNF105 + + @@ -173274,6 +202345,12 @@ zinc finger protein 109 zinc finger protein 109 + + + + ZNF109 + + @@ -173284,6 +202361,12 @@ zinc finger protein 110 zinc finger protein 110 + + + + ZNF110 + + @@ -173294,6 +202377,12 @@ zinc finger protein 111 zinc finger protein 111 + + + + ZNF111 + + @@ -173304,6 +202393,12 @@ zinc finger protein 113 zinc finger protein 113 + + + + ZNF113 + + @@ -173314,6 +202409,12 @@ zinc finger protein 118 zinc finger protein 118 + + + + ZNF118 + + @@ -173324,6 +202425,12 @@ zinc finger protein 119 zinc finger protein 119 + + + + ZNF119 + + @@ -173334,6 +202441,12 @@ zinc finger protein 122 zinc finger protein 122 + + + + ZNF122 + + @@ -173362,6 +202475,12 @@ AKAP9 + + + + AKAP9 + + @@ -173390,6 +202509,12 @@ vl megalencephalic leukoencephalopathy with subcortical cysts 1 + + + + MLC1 + + @@ -173450,6 +202575,12 @@ unc119a UNC119 + + + + UNC119 + + @@ -173506,6 +202637,12 @@ solute carrier family 5 (sodium-dependent vitamin transporter), member 6 SLC5A6 + + + + SLC5A6 + + @@ -173535,6 +202672,12 @@ conductin, mouse, homolog of AXIN2 + + + + AXIN2 + + @@ -173565,6 +202708,12 @@ membrin GOSR2 + + + + GOSR2 + + @@ -173590,6 +202739,12 @@ EIF2AK3 + + + + EIF2AK3 + + @@ -173614,6 +202769,12 @@ RAD50 + + + + RAD50 + + @@ -173639,6 +202800,12 @@ MPDU1 + + + + MPDU1 + + @@ -173663,6 +202830,12 @@ NEK2 + + + + NEK2 + + @@ -173680,6 +202853,12 @@ deafness, autosomal recessive 20 deafness, autosomal recessive 20 + + + + DFNB20 + + @@ -173709,6 +202888,12 @@ SEPTIN9 + + + + SEPTIN9 + + @@ -173732,6 +202917,12 @@ ITGA8 + + + + ITGA8 + + @@ -173760,6 +202951,12 @@ calcium channel, voltage-dependent, t type, alpha-1g subunit CACNA1G + + + + CACNA1G + + @@ -173783,6 +202980,12 @@ RGS9 + + + + RGS9 + + @@ -173814,6 +203017,12 @@ ZNF142 + + + + ZNF142 + + @@ -173839,6 +203048,12 @@ PPP1R17 + + + + PPP1R17 + + @@ -173865,6 +203080,12 @@ DLG5 + + + + DLG5 + + @@ -173888,6 +203109,12 @@ keratosis pilaris atrophicans keratosis pilaris atrophicans + + + + KPA + + @@ -173914,6 +203141,12 @@ MAD2L2 + + + + MAD2L2 + + @@ -173954,6 +203187,12 @@ eda1r EDAR + + + + EDAR + + @@ -173978,6 +203217,12 @@ GRM6 + + + + GRM6 + + @@ -174002,6 +203247,12 @@ GRM7 + + + + GRM7 + + @@ -174027,6 +203278,12 @@ MYOT + + + + MYOT + + @@ -174051,6 +203308,12 @@ SYCP2 + + + + SYCP2 + + @@ -174081,6 +203344,12 @@ g protein-coupled receptor 56 ADGRG1 + + + + ADGRG1 + + @@ -174108,6 +203377,12 @@ IL18BP + + + + IL18BP + + @@ -174124,6 +203399,12 @@ phospholipase c, beta-2 PLCB2 + + + + PLCB2 + + @@ -174149,6 +203430,12 @@ KCNQ1OT1 + + + + KCNQ1OT1 + + @@ -174160,6 +203447,12 @@ cone-rod dystrophy 3 cone-rod dystrophy 3 + + + + CORD3 + + @@ -174203,6 +203496,12 @@ cerebellar ataxia, deafness, and narcolepsy, autosomal dominant cerebellar ataxia, deafness, and narcolepsy, autosomal dominant + + + + ADCADN + + @@ -174226,6 +203525,12 @@ PIGB + + + + PIGB + + @@ -174250,6 +203555,12 @@ RNASEH1 + + + + RNASEH1 + + @@ -174280,6 +203591,12 @@ retinoblastoma-interacting and myosin-like RBBP8 + + + + RBBP8 + + @@ -174303,6 +203620,12 @@ SULT2B1 + + + + SULT2B1 + + @@ -174326,6 +203649,12 @@ SVIL + + + + SVIL + + @@ -174350,6 +203679,12 @@ TBX15 + + + + TBX15 + + @@ -174410,6 +203745,12 @@ ADAMTS13 + + + + ADAMTS13 + + @@ -174444,6 +203785,12 @@ DNAJB2 + + + + DNAJB2 + + @@ -174470,6 +203817,12 @@ ARFGEF1 + + + + ARFGEF1 + + @@ -174494,6 +203847,12 @@ TYROBP + + + + TYROBP + + @@ -174518,6 +203877,12 @@ SLC7A9 + + + + SLC7A9 + + @@ -174529,6 +203894,12 @@ cardiomyopathy, dilated, 1g cardiomyopathy, dilated, 1g + + + + CMD1G + + @@ -174552,6 +203923,12 @@ SGCE + + + + SGCE + + @@ -174569,6 +203946,12 @@ alzheimer disease without neurofibrillary tangles alzheimer disease 15 + + + + AD15 + + @@ -174593,6 +203976,12 @@ SLC6A5 + + + + SLC6A5 + + @@ -174623,6 +204012,12 @@ kiss1 receptor KISS1R + + + + KISS1R + + @@ -174657,6 +204052,12 @@ SLC25A11 + + + + SLC25A11 + + @@ -174681,6 +204082,12 @@ CTCF + + + + CTCF + + @@ -174704,6 +204111,12 @@ congenital cataracts, facial dysmorphism, and neuropathy congenital cataracts, facial dysmorphism, and neuropathy + + + + CCFDN + + @@ -174728,6 +204141,12 @@ left ventricular noncompaction 1 with or without congenital heart defects left ventricular noncompaction 1 + + + + LVNC1 + + @@ -174761,6 +204180,12 @@ poikiloderma with neutropenia, clericuzio-type poikiloderma with neutropenia + + + + PN + + @@ -174784,6 +204209,12 @@ RPL15 + + + + RPL15 + + @@ -174807,6 +204238,12 @@ RPL11 + + + + RPL11 + + @@ -174830,6 +204267,12 @@ RPL18 + + + + RPL18 + + @@ -174858,6 +204301,12 @@ moebius syndrome 3, formerly facial paresis, hereditary congenital, 2 + + + + HCFP2 + + @@ -174870,6 +204319,12 @@ spastic paraplegia 10, autosomal dominant spastic paraplegia 10, autosomal dominant + + + + SPG10 + + @@ -174895,6 +204350,12 @@ SELENBP1 + + + + SELENBP1 + + @@ -174919,6 +204380,12 @@ SLC22A4 + + + + SLC22A4 + + @@ -174952,6 +204419,12 @@ SLC27A4 + + + + SLC27A4 + + @@ -174984,6 +204457,12 @@ MTHFS + + + + MTHFS + + @@ -175007,6 +204486,12 @@ RAB11B + + + + RAB11B + + @@ -175048,6 +204533,12 @@ SNAP29 + + + + SNAP29 + + @@ -175083,6 +204574,12 @@ crumbs, drosophila, homolog of, 1 CRB1 + + + + CRB1 + + @@ -175122,6 +204619,12 @@ polyadenylate-specific ribonuclease PARN + + + + PARN + + @@ -175146,6 +204649,12 @@ deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts chudley-mccullough syndrome + + + + CMCS + + @@ -175170,6 +204679,12 @@ krit1 ankyrin repeat-containing protein 1 KRIT1 + + + + KRIT1 + + @@ -175194,6 +204709,12 @@ SLC34A2 + + + + SLC34A2 + + @@ -175217,6 +204738,12 @@ encephalopathy, familial, with neuroserpin inclusion bodies encephalopathy, familial, with neuroserpin inclusion bodies + + + + FENIB + + @@ -175243,6 +204770,12 @@ cataract, autosomal recessive congenital 1 cataract 9, multiple types + + + + CTRCT9 + + @@ -175269,6 +204802,12 @@ ARPC1B + + + + ARPC1B + + @@ -175294,6 +204833,12 @@ ARPC4 + + + + ARPC4 + + @@ -175319,6 +204864,12 @@ ARPC5 + + + + ARPC5 + + @@ -175339,6 +204890,12 @@ anterior segment dysgenesis 5 anterior segment dysgenesis 5 + + + + ASGD5 + + @@ -175353,6 +204910,12 @@ This term has one or more labels that end with ', INCLUDED'. leber congenital amaurosis 3 + + + + LCA3 + + @@ -175365,6 +204928,12 @@ generalized epilepsy with febrile seizures plus, type 1 generalized epilepsy with febrile seizures plus, type 1 + + + + GEFSP1 + + @@ -175399,6 +204968,12 @@ CRLF1 + + + + CRLF1 + + @@ -175423,6 +204998,12 @@ CD2AP + + + + CD2AP + + @@ -175446,6 +205027,12 @@ RNF6 + + + + RNF6 + + @@ -175518,6 +205105,12 @@ hemochromatosis, type 3 hemochromatosis, type 3 + + + + HFE3 + + @@ -175534,6 +205127,12 @@ dyslexia, susceptibility to, 3 dyslexia, susceptibility to, 3 + + + + DYX3 + + @@ -175560,6 +205159,12 @@ LBX1 + + + + LBX1 + + @@ -175594,6 +205199,12 @@ DLC1 + + + + DLC1 + + @@ -175630,6 +205241,12 @@ This term has one or more labels that end with ', INCLUDED'. STAT5B + + + + STAT5B + + @@ -175657,6 +205274,12 @@ ATG5 + + + + ATG5 + + @@ -175681,6 +205304,12 @@ MEGF8 + + + + MEGF8 + + @@ -175706,6 +205335,12 @@ FAT2 + + + + FAT2 + + @@ -175741,6 +205376,12 @@ multiple epidermal growth factor-like domains 7 LRP4 + + + + LRP4 + + @@ -175753,6 +205394,12 @@ This term has one or more labels that end with ', INCLUDED'. growth hormone insensitivity, partial + + + + GHIP + + @@ -175783,6 +205430,12 @@ sco2, s. cerevisiae, homolog of SCO2 + + + + SCO2 + + @@ -175807,6 +205460,12 @@ mitochondrial complex 5 (atp synthase) deficiency, nuclear type 1 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 1 + + + + MC5DN1 + + @@ -175831,6 +205490,12 @@ SPAST + + + + SPAST + + @@ -175856,6 +205521,12 @@ rta, proximal, autosomal recessive proximal renal tubular acidosis-ocular anomaly syndrome + + + + PRTAO + + @@ -175879,6 +205550,12 @@ PLXND1 + + + + PLXND1 + + @@ -175908,6 +205585,12 @@ PRG4 + + + + PRG4 + + @@ -175943,6 +205626,12 @@ AGXT + + + + AGXT + + @@ -175967,6 +205656,12 @@ muscular dystrophy, limb-girdle, type 2e muscular dystrophy, limb-girdle, autosomal recessive 4 + + + + LGMDR4 + + @@ -175995,6 +205690,12 @@ cardiomyopathy, dilated, with conduction defect cardiomyopathy, dilated, 1h + + + + CMD1H + + @@ -176024,6 +205725,12 @@ rad54, s. cerevisiae, homolog of, B RAD54B + + + + RAD54B + + @@ -176048,6 +205755,12 @@ neurodegeneration with brain iron accumulation 10 aceruloplasminemia + + + + ACEP + + @@ -176069,6 +205782,12 @@ eec syndrome 3 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 + + + + EEC3 + + @@ -176092,6 +205811,12 @@ VAX1 + + + + VAX1 + + @@ -176116,6 +205841,12 @@ GRHPR + + + + GRHPR + + @@ -176144,6 +205875,12 @@ synaptojanin 1 SYNJ1 + + + + SYNJ1 + + @@ -176171,6 +205908,12 @@ APPL1 + + + + APPL1 + + @@ -176182,6 +205925,12 @@ trabecular meshwork-inducible stretch response oculomedin + + + + OCLM + + @@ -176227,6 +205976,12 @@ ACTL7A + + + + ACTL7A + + @@ -176261,6 +206016,12 @@ major histocompatibility complex, class ii, dq beta-1 HLA-DQB1 + + + + HLA-DQB1 + + @@ -176286,6 +206047,12 @@ cataract, coppock-like cataract 2, multiple types + + + + CTRCT2 + + @@ -176325,6 +206092,12 @@ BLOC1S6 + + + + BLOC1S6 + + @@ -176355,6 +206128,12 @@ gamma-trace CST3 + + + + CST3 + + @@ -176380,6 +206159,12 @@ GALK1 + + + + GALK1 + + @@ -176418,6 +206203,12 @@ psoriasis 5, susceptibility to psoriasis 5, susceptibility to + + + + PSORS5 + + @@ -176441,6 +206232,12 @@ microcephaly 2, primary, autosomal recessive, with or without cortical malformations microcephaly 2, primary, autosomal recessive, with or without cortical malformations + + + + MCPH2 + + @@ -176471,6 +206268,12 @@ trf1-interacting nuclear factor 2 TINF2 + + + + TINF2 + + @@ -176491,6 +206294,12 @@ spinal muscular atrophy, distal, autosomal recessive, 1 neuronopathy, distal hereditary motor, autosomal recessive 1 + + + + HMNR1 + + @@ -176514,6 +206323,12 @@ microcephaly 4, primary, autosomal recessive microcephaly 4, primary, autosomal recessive + + + + MCPH4 + + @@ -176544,6 +206359,12 @@ solute carrier family 17 (sodium phosphate cotransporter), member 5 SLC17A5 + + + + SLC17A5 + + @@ -176581,6 +206402,12 @@ PPP2R2B + + + + PPP2R2B + + @@ -176604,6 +206431,12 @@ spinocerebellar ataxia 12 spinocerebellar ataxia 12 + + + + SCA12 + + @@ -176630,6 +206463,12 @@ B4GALT7 + + + + B4GALT7 + + @@ -176676,6 +206515,12 @@ GRAP + + + + GRAP + + @@ -176702,6 +206547,12 @@ CHIC2 + + + + CHIC2 + + @@ -176794,6 +206645,12 @@ MAN1B1 + + + + MAN1B1 + + @@ -176817,6 +206674,12 @@ advanced sleep phase syndrome, familial, 1 advanced sleep phase syndrome, familial, 1 + + + + FASPS1 + + @@ -176840,6 +206703,12 @@ LAMC3 + + + + LAMC3 + + @@ -176852,6 +206721,12 @@ febrile seizures, familial, 4 febrile seizures, familial, 4 + + + + FEB4 + + @@ -176875,6 +206750,12 @@ duane retraction syndrome 2 duane retraction syndrome 2 + + + + DURS2 + + @@ -176899,6 +206780,12 @@ MAB21L2 + + + + MAB21L2 + + @@ -176923,6 +206810,12 @@ STAG1 + + + + STAG1 + + @@ -176946,6 +206839,12 @@ spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum spastic paraplegia 11, autosomal recessive + + + + SPG11 + + @@ -176977,6 +206876,12 @@ epilepsy, partial, with variable foci epilepsy, familial focal, with variable foci 1 + + + + FFEVF1 + + @@ -177020,6 +206925,12 @@ prominin, mouse, homolog-like 1 PROM1 + + + + PROM1 + + @@ -177043,6 +206954,12 @@ DNAI1 + + + + DNAI1 + + @@ -177055,6 +206972,12 @@ lipodystrophy, familial partial, type 3 lipodystrophy, familial partial, type 3 + + + + FPLD3 + + @@ -177079,6 +207002,12 @@ GPNMB + + + + GPNMB + + @@ -177090,6 +207019,12 @@ sialuria, finnish type salla disease + + + + SD + + @@ -177105,6 +207040,12 @@ This term has one or more labels that end with ', INCLUDED'. breast-ovarian cancer, familial, susceptibility to, 1 + + + + BROVCA1 + + @@ -177143,6 +207084,12 @@ rad53, s. cerevisiae, homolog of CHEK2 + + + + CHEK2 + + @@ -177156,6 +207103,12 @@ mitochondrial complex 4 deficiency, nuclear type 2 mitochondrial complex 4 deficiency, nuclear type 2 + + + + MC4DN2 + + @@ -177173,6 +207126,12 @@ This term has one or more labels that end with ', INCLUDED'. hypotrichosis 7 + + + + HYPT7 + + @@ -177223,6 +207182,12 @@ GFI1B + + + + GFI1B + + @@ -177250,6 +207215,12 @@ ATP2C1 + + + + ATP2C1 + + @@ -177280,6 +207251,12 @@ sodium voltage-gated channel, alpha subunit 11 SCN11A + + + + SCN11A + + @@ -177310,6 +207287,12 @@ zinc finger transcription factor trps1 TRPS1 + + + + TRPS1 + + @@ -177322,6 +207305,12 @@ nph3 nephronophthisis 3 + + + + NPHP3 + + @@ -177346,6 +207335,12 @@ atld ataxia-telangiectasia-like disorder 1 + + + + ATLD1 + + @@ -177368,6 +207363,12 @@ arylhydrocarbon-interacting receptor protein-like 1 AIPL1 + + + + AIPL1 + + @@ -177382,6 +207383,12 @@ This term has one or more labels that end with ', INCLUDED'. leber congenital amaurosis 4 + + + + LCA4 + + @@ -177417,6 +207424,12 @@ mutl, e. coli, homolog of, 3 MLH3 + + + + MLH3 + + @@ -177429,6 +207442,12 @@ arrhythmogenic right ventricular dysplasia, familial, 5 arrhythmogenic right ventricular dysplasia, familial, 5 + + + + ARVD5 + + @@ -177447,6 +207466,12 @@ arrhythmogenic right ventricular dysplasia, familial, 6 arrhythmogenic right ventricular dysplasia, familial, 6 + + + + ARVD6 + + @@ -177475,6 +207500,12 @@ ST3GAL5 + + + + ST3GAL5 + + @@ -177490,6 +207521,12 @@ This term has one or more labels that end with ', INCLUDED'. generalized epilepsy with febrile seizures plus, type 2 + + + + GEFSP2 + + @@ -177513,6 +207550,12 @@ GPC6 + + + + GPC6 + + @@ -177536,6 +207579,12 @@ LETM1 + + + + LETM1 + + @@ -177600,6 +207649,12 @@ AFF4 + + + + AFF4 + + @@ -177641,6 +207696,12 @@ gap junction protein, beta-6 GJB6 + + + + GJB6 + + @@ -177668,6 +207729,12 @@ SCN10A + + + + SCN10A + + @@ -177708,6 +207775,12 @@ spinocerebellar ataxia 11 spinocerebellar ataxia 11 + + + + SCA11 + + @@ -177733,6 +207806,12 @@ KCNE3 + + + + KCNE3 + + @@ -177759,6 +207838,12 @@ KLK11 + + + + KLK11 + + @@ -177792,6 +207877,12 @@ PLPBP + + + + PLPBP + + @@ -177819,6 +207910,12 @@ SLC38A3 + + + + SLC38A3 + + @@ -177842,6 +207939,12 @@ GAB1 + + + + GAB1 + + @@ -177874,6 +207977,12 @@ This term has one or more labels that end with ', INCLUDED'. ACSL6 + + + + ACSL6 + + @@ -177903,6 +208012,12 @@ guanine nucleotide-binding protein, beta-5 GNB5 + + + + GNB5 + + @@ -177928,6 +208043,12 @@ PSMD12 + + + + PSMD12 + + @@ -177951,6 +208072,12 @@ welander distal myopathy welander distal myopathy + + + + WDM + + @@ -177975,6 +208102,12 @@ SARDH + + + + SARDH + + @@ -178008,6 +208141,12 @@ This term has one or more labels that end with ', INCLUDED'. SP110 + + + + SP110 + + @@ -178041,6 +208180,12 @@ IRAK3 + + + + IRAK3 + + @@ -178072,6 +208217,12 @@ mglur1-alpha GRM1 + + + + GRM1 + + @@ -178100,6 +208251,12 @@ neuropathy, hereditary motor and sensory, okinawa type neuropathy, hereditary motor and sensory, okinawa type + + + + HMSNO + + @@ -178129,6 +208286,12 @@ photoreceptor-specific nuclear receptor NR2E3 + + + + NR2E3 + + @@ -178153,6 +208316,12 @@ OTOG + + + + OTOG + + @@ -178182,6 +208351,12 @@ titin-cap TCAP + + + + TCAP + + @@ -178210,6 +208385,12 @@ alpha-methylacyl-coa racemase AMACR + + + + AMACR + + @@ -178233,6 +208414,12 @@ SACS + + + + SACS + + @@ -178256,6 +208443,12 @@ CBLB + + + + CBLB + + @@ -178267,6 +208460,12 @@ amegakaryocytic thrombocytopenia, congenital, 1 amegakaryocytic thrombocytopenia, congenital, 1 + + + + CAMT1 + + @@ -178284,6 +208483,12 @@ hyperlipidemia, familial combined, 2 hyperlipidemia, familial combined, 2 + + + + FCHL2 + + @@ -178309,6 +208514,12 @@ ZNHIT3 + + + + ZNHIT3 + + @@ -178338,6 +208549,12 @@ thyroid hormone receptor interactor 4 TRIP4 + + + + TRIP4 + + @@ -178372,6 +208589,12 @@ This term has one or more labels that end with ', INCLUDED'. TRIP11 + + + + TRIP11 + + @@ -178396,6 +208619,12 @@ TRIP12 + + + + TRIP12 + + @@ -178425,6 +208654,12 @@ thyroid hormone receptor interactor 13 TRIP13 + + + + TRIP13 + + @@ -178450,6 +208685,12 @@ BLNK + + + + BLNK + + @@ -178467,6 +208708,12 @@ inflammatory bowel disease 3 inflammatory bowel disease 3 + + + + IBD3 + + @@ -178492,6 +208739,12 @@ HAAO + + + + HAAO + + @@ -178516,6 +208769,12 @@ CELSR1 + + + + CELSR1 + + @@ -178541,6 +208800,12 @@ IDH3B + + + + IDH3B + + @@ -178564,6 +208829,12 @@ mcgrath syndrome ectodermal dysplasia/skin fragility syndrome + + + + EDSFS + + @@ -178587,6 +208858,12 @@ leber congenital amaurosis 5 leber congenital amaurosis 5 + + + + LCA5 + + @@ -178611,6 +208888,12 @@ ADAMTS2 + + + + ADAMTS2 + + @@ -178641,6 +208924,12 @@ mitochondrial leurs LARS2 + + + + LARS2 + + @@ -178666,6 +208955,12 @@ TONSL + + + + TONSL + + @@ -178709,6 +209004,12 @@ HSF2BP + + + + HSF2BP + + @@ -178733,6 +209034,12 @@ DYRK1B + + + + DYRK1B + + @@ -178758,6 +209065,12 @@ zinc finger protein 423, mouse, homolog of ZNF423 + + + + ZNF423 + + @@ -178783,6 +209096,12 @@ ICOS + + + + ICOS + + @@ -178795,6 +209114,12 @@ progressive familial heart block, type 1b progressive familial heart block, type 1b + + + + PFHB1B + + @@ -178825,12 +209150,18 @@ charcot-marie-tooth disease, type 4b2, with early-onset glaucoma charcot-marie-tooth neuropathy, type 4b2, with early-onset glaucoma CMT4B2 - charcot-marie-tooth disease, type 4b2 + charcot-marie-tooth disease, demyelinating, type 4b2 charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2 charcot-marie-tooth neuropathy, type 4b2 This term has one or more labels that end with ', INCLUDED'. - charcot-marie-tooth disease, type 4b2 + charcot-marie-tooth disease, demyelinating, type 4b2 + + + + CMT4B2 + + @@ -178856,6 +209187,12 @@ ALG5 + + + + ALG5 + + @@ -178880,6 +209217,12 @@ ALG6 + + + + ALG6 + + @@ -178910,6 +209253,12 @@ neurexin iv, drosophila, homolog of CNTNAP2 + + + + CNTNAP2 + + @@ -178936,6 +209285,12 @@ mhc class 1 deficiency 1 mhc class 1 deficiency 1 + + + + MHC1D1 + + @@ -178961,6 +209316,12 @@ FRRS1L + + + + FRRS1L + + @@ -178987,6 +209348,12 @@ BVES + + + + BVES + + @@ -179010,6 +209377,12 @@ frizzled, drosophila, homolog of, 4 FZD4 + + + + FZD4 + + @@ -179051,6 +209424,12 @@ fibulin 5 FBLN5 + + + + FBLN5 + + @@ -179086,6 +209465,12 @@ atpase family gene 3-like 2 AFG3L2 + + + + AFG3L2 + + @@ -179116,6 +209501,12 @@ platelet-derived growth factor-beta-like tumor suppressor PDGFRL + + + + PDGFRL + + @@ -179152,6 +209543,12 @@ nima-related kinase 1 NEK1 + + + + NEK1 + + @@ -179183,6 +209580,12 @@ fc-gamma-riib FCGR2B + + + + FCGR2B + + @@ -179211,6 +209614,12 @@ TCIRG1 + + + + TCIRG1 + + @@ -179235,6 +209644,12 @@ KIF5C + + + + KIF5C + + @@ -179259,6 +209674,12 @@ CRIPT + + + + CRIPT + + @@ -179300,6 +209721,12 @@ GRIP1 + + + + GRIP1 + + @@ -179324,6 +209751,12 @@ MYOF + + + + MYOF + + @@ -179349,6 +209782,12 @@ SLC30A9 + + + + SLC30A9 + + @@ -179372,6 +209811,12 @@ HOXB13 + + + + HOXB13 + + @@ -179405,6 +209850,12 @@ RECQL3 + + + + RECQL3 + + @@ -179430,6 +209881,12 @@ RECQL2 + + + + RECQL2 + + @@ -179454,6 +209911,12 @@ TBX18 + + + + TBX18 + + @@ -179479,6 +209942,12 @@ TBX19 + + + + TBX19 + + @@ -179502,6 +209971,12 @@ TBR1 + + + + TBR1 + + @@ -179526,6 +210001,12 @@ LGI1 + + + + LGI1 + + @@ -179559,6 +210040,12 @@ HSPB3 + + + + HSPB3 + + @@ -179583,6 +210070,12 @@ tooth agenesis, selective, 3 tooth agenesis, selective, 3 + + + + STHAG3 + + @@ -179607,6 +210100,12 @@ MMP20 + + + + MMP20 + + @@ -179631,6 +210130,12 @@ NR0B2 + + + + NR0B2 + + @@ -179658,6 +210163,12 @@ VAC14 + + + + VAC14 + + @@ -179682,6 +210193,12 @@ EFEMP2 + + + + EFEMP2 + + @@ -179706,6 +210223,12 @@ ACTN4 + + + + ACTN4 + + @@ -179731,6 +210254,12 @@ MAPK8IP1 + + + + MAPK8IP1 + + @@ -179754,6 +210283,12 @@ TBCD + + + + TBCD + + @@ -179780,6 +210315,12 @@ SLC40A1 + + + + SLC40A1 + + @@ -179806,6 +210347,12 @@ MAP3K14 + + + + MAP3K14 + + @@ -179843,6 +210390,12 @@ hiv gp120-binding protein CD209 + + + + CD209 + + @@ -179869,6 +210422,12 @@ CERT1 + + + + CERT1 + + @@ -179899,6 +210458,12 @@ homeobox a2 HOXA2 + + + + HOXA2 + + @@ -179924,6 +210489,12 @@ PTGDR + + + + PTGDR + + @@ -179950,6 +210521,12 @@ AKAP3 + + + + AKAP3 + + @@ -179990,6 +210567,12 @@ arfl3 ARL3 + + + + ARL3 + + @@ -180014,6 +210597,12 @@ TOM1 + + + + TOM1 + + @@ -180045,6 +210634,12 @@ MERTK + + + + MERTK + + @@ -180080,6 +210675,12 @@ LTBP4 + + + + LTBP4 + + @@ -180117,6 +210718,12 @@ ribonucleotide reductase, m2 B RRM2B + + + + RRM2B + + @@ -180141,6 +210748,12 @@ TSPYL1 + + + + TSPYL1 + + @@ -180167,6 +210780,12 @@ soldiers heart orthostatic intolerance + + + + ORSTI + + @@ -180179,6 +210798,12 @@ dfna26 deafness, autosomal dominant 20 + + + + DFNA20 + + @@ -180202,6 +210827,12 @@ TFR2 + + + + TFR2 + + @@ -180227,6 +210858,12 @@ TSFM + + + + TSFM + + @@ -180251,6 +210888,12 @@ TULP3 + + + + TULP3 + + @@ -180281,6 +210924,12 @@ tryptophanyl-trna synthetase, mitochondrial WARS2 + + + + WARS2 + + @@ -180305,6 +210954,12 @@ WDR1 + + + + WDR1 + + @@ -180331,6 +210986,12 @@ AKR1D1 + + + + AKR1D1 + + @@ -180344,6 +211005,12 @@ zinc finger protein 271, pseudogene zinc finger protein 271, pseudogene + + + + ZNF271P + + @@ -180356,6 +211023,12 @@ craniosynostosis, boston-type craniosynostosis 2 + + + + CRS2 + + @@ -180381,6 +211054,12 @@ RELB + + + + RELB + + @@ -180405,6 +211084,12 @@ synaptonemal complex protein 3 SYCP3 + + + + SYCP3 + + @@ -180416,6 +211101,12 @@ cardiomyopathy, dilated, 1i cardiomyopathy, dilated, 1i + + + + CMD1I + + @@ -180440,6 +211131,12 @@ NPHS2 + + + + NPHS2 + + @@ -180470,6 +211167,12 @@ prx3 PRDX3 + + + + PRDX3 + + @@ -180493,6 +211196,12 @@ vtsip ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy + + + + CPVT1 + + @@ -180516,6 +211225,12 @@ ACAD8 + + + + ACAD8 + + @@ -180540,6 +211255,12 @@ ANGPTL3 + + + + ANGPTL3 + + @@ -180564,6 +211285,12 @@ TRPA1 + + + + TRPA1 + + @@ -180590,6 +211317,12 @@ ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive ichthyosis, congenital, autosomal recessive 5 + + + + ARCI5 + + @@ -180615,6 +211348,12 @@ ABHD5 + + + + ABHD5 + + @@ -180651,6 +211390,12 @@ HOMER2 + + + + HOMER2 + + @@ -180667,6 +211412,12 @@ muscular dystrophy, congenital, 1b muscular dystrophy, congenital, 1b + + + + MDC1B + + @@ -180684,6 +211435,12 @@ huntington disease-like neurodegenerative disorder, autosomal recessive huntington disease-like 3 + + + + HDL3 + + @@ -180707,6 +211464,12 @@ microcephaly 3, primary, autosomal recessive microcephaly 3, primary, autosomal recessive + + + + MCPH3 + + @@ -180718,6 +211481,12 @@ spastic paraplegia 12, autosomal dominant spastic paraplegia 12, autosomal dominant + + + + SPG12 + + @@ -180741,6 +211510,12 @@ FLRT3 + + + + FLRT3 + + @@ -180793,6 +211568,12 @@ PUF60 + + + + PUF60 + + @@ -180817,6 +211598,12 @@ KL + + + + KL + + @@ -180837,6 +211624,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized, susceptibility to, 7 + + + + EIG7 + + @@ -180875,6 +211668,12 @@ evc1 EVC + + + + EVC + + @@ -180910,6 +211709,12 @@ tank-binding kinase 1 TBK1 + + + + TBK1 + + @@ -180934,6 +211739,12 @@ FKBP6 + + + + FKBP6 + + @@ -180947,6 +211758,12 @@ stickler syndrome, vitreous type 2 stickler syndrome, type 2 + + + + STL2 + + @@ -180975,6 +211792,12 @@ SLCO1B1 + + + + SLCO1B1 + + @@ -180998,6 +211821,12 @@ HS2ST1 + + + + HS2ST1 + + @@ -181022,6 +211851,12 @@ HS6ST1 + + + + HS6ST1 + + @@ -181072,6 +211907,12 @@ SRP54 + + + + SRP54 + + @@ -181095,6 +211936,12 @@ SRP68 + + + + SRP68 + + @@ -181123,6 +211970,12 @@ MALT1 + + + + MALT1 + + @@ -181149,6 +212002,12 @@ CD207 + + + + CD207 + + @@ -181171,6 +212030,12 @@ lecithin retinol acyltransferase LRAT + + + + LRAT + + @@ -181182,6 +212047,12 @@ osteoarthritis with mild chondrodysplasia osteoarthritis with mild chondrodysplasia + + + + OSCDP + + @@ -181211,6 +212082,12 @@ taste receptor, type 2, member 16 TAS2R16 + + + + TAS2R16 + + @@ -181236,6 +212113,12 @@ MPZL2 + + + + MPZL2 + + @@ -181259,6 +212142,12 @@ MYO9A + + + + MYO9A + + @@ -181291,6 +212180,12 @@ This term has one or more labels that end with ', INCLUDED'. SLC12A6 + + + + SLC12A6 + + @@ -181325,6 +212220,12 @@ NEUROG3 + + + + NEUROG3 + + @@ -181350,6 +212251,12 @@ NBEA + + + + NBEA + + @@ -181380,6 +212287,12 @@ t-box transcription factor 21 TBX21 + + + + TBX21 + + @@ -181411,6 +212324,12 @@ mks MKKS + + + + MKKS + + @@ -181437,6 +212356,12 @@ DGAT1 + + + + DGAT1 + + @@ -181453,6 +212378,12 @@ north american indian childhood cirrhosis north american indian childhood cirrhosis + + + + NAIC + + @@ -181484,6 +212415,12 @@ BRF1 + + + + BRF1 + + @@ -181508,6 +212445,12 @@ schizophrenia susceptibility locus, chromosome 1q42-related schizophrenia 9 + + + + SCZD9 + + @@ -181537,6 +212480,12 @@ tumor necrosis factor receptor superfamily, member 13b TNFRSF13B + + + + TNFRSF13B + + @@ -181561,6 +212510,12 @@ CNOT2 + + + + CNOT2 + + @@ -181585,6 +212540,12 @@ CNOT3 + + + + CNOT3 + + @@ -181611,6 +212572,12 @@ TAF2 + + + + TAF2 + + @@ -181649,6 +212616,12 @@ negative regulator of transcription 1, s. cerevisiae, homolog of CNOT1 + + + + CNOT1 + + @@ -181673,6 +212646,12 @@ PCLO + + + + PCLO + + @@ -181685,6 +212664,12 @@ This term has one or more labels that end with ', INCLUDED'. becker nevus syndrome + + + + BNS + + @@ -181740,6 +212725,12 @@ CTDP1 + + + + CTDP1 + + @@ -181762,6 +212753,12 @@ wolfram syndrome 2 wolfram syndrome 2 + + + + WFS2 + + @@ -181794,6 +212791,12 @@ cortisone reductase deficiency 1 cortisone reductase deficiency 1 + + + + CORTRD1 + + @@ -181824,6 +212827,12 @@ myh MUTYH + + + + MUTYH + + @@ -181859,6 +212868,12 @@ tubulin-specific chaperone e TBCE + + + + TBCE + + @@ -181897,6 +212912,12 @@ SLC26A5 + + + + SLC26A5 + + @@ -181932,6 +212953,12 @@ PDE11A + + + + PDE11A + + @@ -181957,6 +212984,12 @@ STK4 + + + + STK4 + + @@ -181968,6 +213001,12 @@ protocadherin-alpha gene cluster protocadherin-alpha gene cluster + + + + PCDHA@ + + @@ -181979,6 +213018,12 @@ protocadherin-beta gene cluster protocadherin-beta gene cluster + + + + PCDHB@ + + @@ -181990,6 +213035,12 @@ protocadherin-gamma gene cluster protocadherin-gamma gene cluster + + + + PCDHG@ + + @@ -182015,6 +213066,12 @@ FCN3 + + + + FCN3 + + @@ -182042,6 +213099,12 @@ SOX5 + + + + SOX5 + + @@ -182065,6 +213128,12 @@ PRKAG3 + + + + PRKAG3 + + @@ -182090,6 +213159,12 @@ RACGAP1 + + + + RACGAP1 + + @@ -182114,6 +213189,12 @@ WBP4 + + + + WBP4 + + @@ -182139,6 +213220,12 @@ HPS1 + + + + HPS1 + + @@ -182175,6 +213262,12 @@ polymerase, dna, gamma-2 POLG2 + + + + POLG2 + + @@ -182205,6 +213298,12 @@ spectrin, beta-iii SPTBN2 + + + + SPTBN2 + + @@ -182229,6 +213328,12 @@ solute carrier family 9, member 3, regulator 1 SLC9A3R1 + + + + SLC9A3R1 + + @@ -182255,6 +213360,12 @@ CORO1A + + + + CORO1A + + @@ -182279,6 +213390,12 @@ SPINK5 + + + + SPINK5 + + @@ -182302,6 +213419,12 @@ ADAMTS3 + + + + ADAMTS3 + + @@ -182329,6 +213452,12 @@ SUPT16H + + + + SUPT16H + + @@ -182340,6 +213469,12 @@ microhydranencephaly microhydranencephaly + + + + MHAC + + @@ -182363,6 +213498,12 @@ STX11 + + + + STX11 + + @@ -182406,6 +213547,12 @@ kiaa0849 CYLD + + + + CYLD + + @@ -182429,6 +213576,12 @@ hypolipidemia, familial, combined hypobetalipoproteinemia, familial, 2 + + + + FHBL2 + + @@ -182459,6 +213612,12 @@ visual system homeobox gene 1, zebrafish, homolog of VSX1 + + + + VSX1 + + @@ -182470,6 +213629,12 @@ myoclonic epilepsy, familial infantile myoclonic epilepsy, familial infantile + + + + FIME + + @@ -182495,6 +213660,12 @@ PAK2 + + + + PAK2 + + @@ -182521,6 +213692,12 @@ ITGA3 + + + + ITGA3 + + @@ -182575,6 +213752,12 @@ PLK4 + + + + PLK4 + + @@ -182600,6 +213783,12 @@ CPLX1 + + + + CPLX1 + + @@ -182627,6 +213816,12 @@ WASF1 + + + + WASF1 + + @@ -182641,6 +213836,12 @@ opitz trigonocephaly-like syndrome bohring-opitz syndrome + + + + BOPS + + @@ -182663,6 +213864,12 @@ spiegler-brooke syndrome brooke-spiegler syndrome + + + + BRSS + + @@ -182690,6 +213897,12 @@ MED23 + + + + MED23 + + @@ -182716,6 +213929,12 @@ MED27 + + + + MED27 + + @@ -182744,6 +213963,12 @@ IRF7 + + + + IRF7 + + @@ -182795,6 +214020,12 @@ SHPK + + + + SHPK + + @@ -182821,6 +214052,12 @@ KIF23 + + + + KIF23 + + @@ -182859,6 +214096,12 @@ GIPC1 + + + + GIPC1 + + @@ -182884,6 +214127,12 @@ TRIM37 + + + + TRIM37 + + @@ -182906,6 +214155,12 @@ renal cell carcinoma, papillary, 1 renal cell carcinoma, papillary, 1 + + + + RCCP1 + + @@ -182938,6 +214193,12 @@ tar dna-binding protein, 43-kd TARDBP + + + + TARDBP + + @@ -182961,6 +214222,12 @@ CNGB3 + + + + CNGB3 + + @@ -182986,6 +214253,12 @@ FRZB + + + + FRZB + + @@ -183010,6 +214283,12 @@ MICU1 + + + + MICU1 + + @@ -183033,6 +214312,12 @@ TREM2 + + + + TREM2 + + @@ -183057,6 +214342,12 @@ PIGK + + + + PIGK + + @@ -183092,6 +214383,12 @@ sh2b adaptor protein 3 SH2B3 + + + + SH2B3 + + @@ -183147,6 +214444,12 @@ wildtype p53-induced phosphatase 1 PPM1D + + + + PPM1D + + @@ -183174,6 +214477,12 @@ TAB2 + + + + TAB2 + + @@ -183199,6 +214508,12 @@ MASP2 + + + + MASP2 + + @@ -183233,6 +214548,12 @@ HERC1 + + + + HERC1 + + @@ -183258,6 +214579,12 @@ S1PR2 + + + + S1PR2 + + @@ -183281,6 +214608,12 @@ AASS + + + + AASS + + @@ -183314,6 +214647,12 @@ GDF2 + + + + GDF2 + + @@ -183340,6 +214679,12 @@ SPINT2 + + + + SPINT2 + + @@ -183363,6 +214708,12 @@ wiedemann-steiner syndrome wiedemann-steiner syndrome + + + + WDSTS + + @@ -183401,6 +214752,12 @@ This term has one or more labels that end with ', INCLUDED'. WWOX + + + + WWOX + + @@ -183456,6 +214813,12 @@ hank ANKH + + + + ANKH + + @@ -183497,6 +214860,12 @@ CFAP45 + + + + CFAP45 + + @@ -183535,6 +214904,12 @@ PXDN + + + + PXDN + + @@ -183569,6 +214944,12 @@ GAS8 + + + + GAS8 + + @@ -183593,6 +214974,12 @@ DLL4 + + + + DLL4 + + @@ -183604,6 +214991,12 @@ deafness, autosomal dominant 23 deafness, autosomal dominant 23 + + + + DFNA23 + + @@ -183628,6 +215021,12 @@ CFC1 + + + + CFC1 + + @@ -183652,6 +215051,12 @@ MESP2 + + + + MESP2 + + @@ -183681,6 +215086,12 @@ l-kynurenine hydrolase KYNU + + + + KYNU + + @@ -183697,6 +215108,12 @@ high density lipoprotein cholesterol level quantitative trait locus 14 high density lipoprotein cholesterol level quantitative trait locus 14 + + + + HDLCQ14 + + @@ -183721,6 +215138,12 @@ NANS + + + + NANS + + @@ -183759,6 +215182,12 @@ torsin 1a TOR1A + + + + TOR1A + + @@ -183784,6 +215213,12 @@ ADCY10 + + + + ADCY10 + + @@ -183818,6 +215253,12 @@ hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 HCN4 + + + + HCN4 + + @@ -183843,6 +215284,12 @@ CYP26B1 + + + + CYP26B1 + + @@ -183866,6 +215313,12 @@ DISC1 + + + + DISC1 + + @@ -183876,6 +215329,12 @@ systemic lupus erythematosus, susceptibility to, 2 systemic lupus erythematosus, susceptibility to, 2 + + + + SLEB2 + + @@ -183900,6 +215359,12 @@ DIABLO + + + + DIABLO + + @@ -183917,6 +215382,12 @@ inflammatory bowel disease 7 inflammatory bowel disease 7 + + + + IBD7 + + @@ -183945,6 +215416,12 @@ RERE + + + + RERE + + @@ -183962,6 +215439,12 @@ spastic paraplegia 14, autosomal recessive spastic paraplegia 14, autosomal recessive + + + + SPG14 + + @@ -183973,6 +215456,12 @@ bardet-biedl syndrome 6 bardet-biedl syndrome 6 + + + + BBS6 + + @@ -184007,6 +215496,12 @@ This term has one or more labels that end with ', INCLUDED'. WNK1 + + + + WNK1 + + @@ -184045,6 +215540,12 @@ NOL3 + + + + NOL3 + + @@ -184077,6 +215578,12 @@ transmembrane protease, serine 10 CORIN + + + + CORIN + + @@ -184102,6 +215609,12 @@ XPR1 + + + + XPR1 + + @@ -184130,6 +215643,12 @@ histamine n-methyltransferase HNMT + + + + HNMT + + @@ -184156,6 +215675,12 @@ ATP6V0A4 + + + + ATP6V0A4 + + @@ -184187,6 +215712,12 @@ ush1c gene USH1C + + + + USH1C + + @@ -184204,6 +215735,12 @@ carney myxoma-endocrine complex, type 2 carney complex, type 2 + + + + CNC2 + + @@ -184229,6 +215766,12 @@ PIDD1 + + + + PIDD1 + + @@ -184260,6 +215803,12 @@ transient receptor potential cation channel, mucolipin subfamily, member 1 MCOLN1 + + + + MCOLN1 + + @@ -184279,7 +215828,7 @@ neuropathy, congenital hypomyelinating, 1, autosomal dominant CHN1 - charcot-marie-tooth disease, type 4e + charcot-marie-tooth disease, demyelinating, type 4e charcot-marie-tooth neuropathy, type 4e hypomyelination, severe congenital neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive @@ -184287,6 +215836,12 @@ This term has one or more labels that end with ', INCLUDED'. neuropathy, congenital hypomyelinating, 1, autosomal recessive + + + + CHN1 + + @@ -184311,6 +215866,12 @@ NCSTN + + + + NCSTN + + @@ -184335,6 +215896,12 @@ AICDA + + + + AICDA + + @@ -184359,6 +215926,12 @@ immunodeficiency with hyper-igm, type 2 immunodeficiency with hyper-igm, type 2 + + + + HIGM2 + + @@ -184382,6 +215955,12 @@ spinocerebellar ataxia 13 spinocerebellar ataxia 13 + + + + SCA13 + + @@ -184415,6 +215994,12 @@ NDRG1 + + + + NDRG1 + + @@ -184439,6 +216024,12 @@ JPH1 + + + + JPH1 + + @@ -184468,6 +216059,12 @@ junctophilin 2 JPH2 + + + + JPH2 + + @@ -184492,6 +216089,12 @@ JPH3 + + + + JPH3 + + @@ -184517,6 +216120,12 @@ SGSH + + + + SGSH + + @@ -184539,6 +216148,12 @@ noonan syndrome, autosomal recessive noonan syndrome 2 + + + + NS2 + + @@ -184550,6 +216165,12 @@ spastic paraplegia 13, autosomal dominant spastic paraplegia 13, autosomal dominant + + + + SPG13 + + @@ -184573,6 +216194,12 @@ temtamy preaxial brachydactyly syndrome temtamy preaxial brachydactyly syndrome + + + + TPBS + + @@ -184597,6 +216224,12 @@ MAGEL2 + + + + MAGEL2 + + @@ -184633,6 +216266,12 @@ tsc1 gene TSC1 + + + + TSC1 + + @@ -184642,12 +216281,18 @@ HMSNR charcot-marie-tooth disease, autosomal recessive, type 4g - charcot-marie-tooth disease, type 4g + charcot-marie-tooth disease, demyelinating, type 4g charcot-marie-tooth neuropathy, type 4g hereditary motor and sensory neuropathy, russe type neuropathy, hereditary motor and sensory, russe type neuropathy, hereditary motor and sensory, russe type + + + + HMSNR + + @@ -184671,6 +216316,12 @@ CAPN10 + + + + CAPN10 + + @@ -184691,6 +216342,12 @@ split-hand/foot malformation 4 split-hand/foot malformation 4 + + + + SHFM4 + + @@ -184740,6 +216397,12 @@ opa1 mitochondrial dynamin-like gtpase OPA1 + + + + OPA1 + + @@ -184765,6 +216428,12 @@ optic atrophy 4 optic atrophy 4 + + + + OPA4 + + @@ -184790,6 +216459,12 @@ CHST6 + + + + CHST6 + + @@ -184834,6 +216509,12 @@ GDF15 + + + + GDF15 + + @@ -184859,6 +216540,12 @@ RBM8A + + + + RBM8A + + @@ -184883,6 +216570,12 @@ HDAC4 + + + + HDAC4 + + @@ -184917,6 +216610,12 @@ FOXP2 + + + + FOXP2 + + @@ -184958,6 +216657,12 @@ CYP3A5 + + + + CYP3A5 + + @@ -185007,6 +216712,12 @@ h factor-like 4 CFHR3 + + + + CFHR3 + + @@ -185033,6 +216744,12 @@ malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1 MFHAS1 + + + + MFHAS1 + + @@ -185060,6 +216777,12 @@ GHRL + + + + GHRL + + @@ -185073,6 +216796,12 @@ nemaline myopathy, amish type nemaline myopathy 5a, autosomal recessive, severe infantile + + + + NEM5A + + @@ -185097,6 +216826,12 @@ YWHAG + + + + YWHAG + + @@ -185120,6 +216855,12 @@ spinocerebellar ataxia 14 spinocerebellar ataxia 14 + + + + SCA14 + + @@ -185132,6 +216873,12 @@ cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant cardiomyopathy, dilated, 1j + + + + CMD1J + + @@ -185157,6 +216904,12 @@ GAD1 + + + + GAD1 + + @@ -185174,6 +216927,12 @@ psoriasis 6, susceptibility to psoriasis 6, susceptibility to + + + + PSORS6 + + @@ -185215,6 +216974,12 @@ rnase zl ELAC2 + + + + ELAC2 + + @@ -185242,6 +217007,12 @@ ARHGAP26 + + + + ARHGAP26 + + @@ -185266,6 +217037,12 @@ ARFGEF2 + + + + ARFGEF2 + + @@ -185279,6 +217056,12 @@ pheochromocytoma/paraganglioma syndrome 3 pheochromocytoma/paraganglioma syndrome 3 + + + + PPGL3 + + @@ -185302,6 +217085,12 @@ epilepsy, nocturnal frontal lobe, 3 epilepsy, nocturnal frontal lobe, 3 + + + + ENFL3 + + @@ -185326,6 +217115,12 @@ htx heterotaxy, visceral, 2, autosomal + + + + HTX2 + + @@ -185352,6 +217147,12 @@ DMPK + + + + DMPK + + @@ -185378,6 +217179,12 @@ AAAS + + + + AAAS + + @@ -185402,6 +217209,12 @@ GAN + + + + GAN + + @@ -185430,6 +217243,12 @@ fibroblast growth factor 23 FGF23 + + + + FGF23 + + @@ -185464,6 +217283,12 @@ IL21R + + + + IL21R + + @@ -185487,6 +217312,12 @@ IL21 + + + + IL21 + + @@ -185511,6 +217342,12 @@ cataract, posterior polar, 3 cataract 31, multiple types + + + + CTRCT31 + + @@ -185553,6 +217390,12 @@ hypotrichosis simplex, generalized, hereditary hypotrichosis 1 + + + + HYPT1 + + @@ -185583,6 +217426,12 @@ multiple inositol polyphosphate phosphatase 1 MINPP1 + + + + MINPP1 + + @@ -185602,6 +217451,12 @@ This term has one or more labels that end with ', INCLUDED'. FGFR1OP + + + + FGFR1OP + + @@ -185631,6 +217486,12 @@ KDM5B + + + + KDM5B + + @@ -185655,6 +217516,12 @@ BACH2 + + + + BACH2 + + @@ -185739,6 +217606,12 @@ This term has one or more labels that end with ', INCLUDED'. KCND3 + + + + KCND3 + + @@ -185764,6 +217637,12 @@ ABCA7 + + + + ABCA7 + + @@ -185782,6 +217661,12 @@ schizophrenia susceptibility locus, chromosome 15q15-related schizophrenia 10 + + + + SCZD10 + + @@ -185817,6 +217702,12 @@ aristaless-like 4, mouse, homolog of ALX4 + + + + ALX4 + + @@ -185846,6 +217737,12 @@ desert hedgehog signaling molecule DHH + + + + DHH + + @@ -185870,6 +217767,12 @@ GJB4 + + + + GJB4 + + @@ -185956,6 +217859,12 @@ vanilloid receptor-related osmotically activated channel TRPV4 + + + + TRPV4 + + @@ -185979,6 +217888,12 @@ deafness, autosomal recessive 26 deafness, autosomal recessive 26 + + + + DFNB26 + + @@ -186010,6 +217925,12 @@ dfnb26, suppressor of deafness, autosomal recessive 26, modifier of + + + + DFNB26M + + @@ -186036,6 +217957,12 @@ MAPK8IP3 + + + + MAPK8IP3 + + @@ -186061,6 +217988,12 @@ thrombocytopenia, congenital, with radioulnar synostosis radioulnar synostosis with amegakaryocytic thrombocytopenia 1 + + + + RUSAT1 + + @@ -186087,6 +218020,12 @@ PRKD1 + + + + PRKD1 + + @@ -186111,6 +218050,12 @@ PRKCH + + + + PRKCH + + @@ -186140,6 +218085,12 @@ ADIPOQ + + + + ADIPOQ + + @@ -186169,6 +218120,12 @@ rpgr-interacting protein RPGRIP1 + + + + RPGRIP1 + + @@ -186210,6 +218167,12 @@ mitochondrial abc protein 3 ABCB6 + + + + ABCB6 + + @@ -186228,6 +218191,12 @@ golgi vesicular membrane-trafficking protein p18 BET1 + + + + BET1 + + @@ -186252,6 +218221,12 @@ ABCG5 + + + + ABCG5 + + @@ -186281,6 +218256,12 @@ sterolin 2 ABCG8 + + + + ABCG8 + + @@ -186305,6 +218286,12 @@ IL17RA + + + + IL17RA + + @@ -186324,6 +218311,12 @@ This term has one or more labels that end with ', INCLUDED'. basal cell carcinoma, susceptibility to, 1 + + + + BCC1 + + @@ -186353,6 +218346,12 @@ This term has one or more labels that end with ', INCLUDED'. usher syndrome, type 2c + + + + USH2C + + @@ -186364,6 +218363,12 @@ cholestasis, benign recurrent intrahepatic, 2 cholestasis, benign recurrent intrahepatic, 2 + + + + BRIC2 + + @@ -186380,6 +218385,12 @@ systemic lupus erythematosus, susceptibility to, 3 systemic lupus erythematosus, susceptibility to, 3 + + + + SLEB3 + + @@ -186405,6 +218416,12 @@ ASPM + + + + ASPM + + @@ -186428,6 +218445,12 @@ DNAI2 + + + + DNAI2 + + @@ -186452,6 +218475,12 @@ VPS41 + + + + VPS41 + + @@ -186488,6 +218517,12 @@ IFT81 + + + + IFT81 + + @@ -186513,6 +218548,12 @@ LONP1 + + + + LONP1 + + @@ -186542,6 +218583,12 @@ SLCO1B3 + + + + SLCO1B3 + + @@ -186567,6 +218614,12 @@ CRTAP + + + + CRTAP + + @@ -186578,6 +218631,12 @@ zw10 interactor, antisense zw10 interactor, antisense + + + + ZWINTAS + + @@ -186606,6 +218665,12 @@ IL36RN + + + + IL36RN + + @@ -186634,6 +218699,12 @@ IL37 + + + + IL37 + + @@ -186657,6 +218728,12 @@ TMPRSS3 + + + + TMPRSS3 + + @@ -186691,6 +218768,12 @@ elongation of very long chain fatty acids-like 4 ELOVL4 + + + + ELOVL4 + + @@ -186725,6 +218808,12 @@ protocadherin 15 PCDH15 + + + + PCDH15 + + @@ -186749,6 +218838,12 @@ FOXP1 + + + + FOXP1 + + @@ -186785,6 +218880,12 @@ otocadherin CDH23 + + + + CDH23 + + @@ -186810,6 +218911,12 @@ B4GAT1 + + + + B4GAT1 + + @@ -186836,6 +218943,12 @@ LPIN1 + + + + LPIN1 + + @@ -186859,6 +218972,12 @@ LPIN2 + + + + LPIN2 + + @@ -186901,6 +219020,12 @@ limb region 1, mouse, homolog of LMBR1 + + + + LMBR1 + + @@ -186934,6 +219059,12 @@ CDT1 + + + + CDT1 + + @@ -186986,6 +219117,12 @@ ATF6 + + + + ATF6 + + @@ -186998,6 +219135,12 @@ parkinson disease 4, autosomal dominant lewy body parkinson disease 4, autosomal dominant + + + + PARK4 + + @@ -187017,6 +219160,12 @@ ggf2 fibromatosis, gingival, 2 + + + + GINGF2 + + @@ -187042,6 +219191,12 @@ GP6 + + + + GP6 + + @@ -187059,6 +219214,12 @@ cone-rod dystrophy 8 cone-rod dystrophy 8 + + + + CORD8 + + @@ -187083,6 +219244,12 @@ NOS1AP + + + + NOS1AP + + @@ -187104,6 +219271,12 @@ This term has one or more labels that end with ', INCLUDED'. abdominal obesity-metabolic syndrome 1 + + + + AOMS1 + + @@ -187130,6 +219303,12 @@ CD244 + + + + CD244 + + @@ -187154,6 +219333,12 @@ hepatitis B virus x-associated protein 2 AIP + + + + AIP + + @@ -187177,6 +219362,12 @@ SLC4A10 + + + + SLC4A10 + + @@ -187200,6 +219391,12 @@ pr domain-containing protein 16 PRDM16 + + + + PRDM16 + + @@ -187223,6 +219420,12 @@ FGF20 + + + + FGF20 + + @@ -187253,6 +219456,12 @@ kinase-interacting protein 2 CIB2 + + + + CIB2 + + @@ -187277,6 +219486,12 @@ rstn RETN + + + + RETN + + @@ -187301,6 +219516,12 @@ RTN4R + + + + RTN4R + + @@ -187344,6 +219565,12 @@ HSD17B3 + + + + HSD17B3 + + @@ -187370,6 +219597,12 @@ RASGRP2 + + + + RASGRP2 + + @@ -187393,6 +219626,12 @@ IFITM3 + + + + IFITM3 + + @@ -187410,6 +219649,12 @@ cardiomyopathy, dilated, 1k cardiomyopathy, dilated, 1k + + + + CMD1K + + @@ -187433,6 +219678,12 @@ deafness, autosomal dominant 25 deafness, autosomal dominant 25 + + + + DFNA25 + + @@ -187459,6 +219710,12 @@ DHX38 + + + + DHX38 + + @@ -187484,6 +219741,12 @@ CDC40 + + + + CDC40 + + @@ -187498,6 +219761,12 @@ charcot-marie-tooth neuropathy, type 2b1 charcot-marie-tooth disease, axonal, type 2b1 + + + + CMT2B1 + + @@ -187513,6 +219782,12 @@ charcot-marie-tooth neuropathy, type 2b2 charcot-marie-tooth disease, axonal, type 2b2 + + + + CMT2B2 + + @@ -187538,6 +219813,12 @@ SF3B1 + + + + SF3B1 + + @@ -187563,6 +219844,12 @@ SF3B2 + + + + SF3B2 + + @@ -187588,6 +219875,12 @@ SF3B4 + + + + SF3B4 + + @@ -187629,6 +219922,12 @@ pituitary forkhead factor, mouse, homolog of FOXL2 + + + + FOXL2 + + @@ -187647,6 +219946,12 @@ type 1 diabetes mellitus 18 type 1 diabetes mellitus 18 + + + + T1D18 + + @@ -187672,6 +219977,12 @@ IPO8 + + + + IPO8 + + @@ -187696,6 +220007,12 @@ MYOZ2 + + + + MYOZ2 + + @@ -187721,6 +220038,12 @@ psoriasis 7, susceptibility to psoriasis 7, susceptibility to + + + + PSORS7 + + @@ -187744,6 +220067,12 @@ CLDN14 + + + + CLDN14 + + @@ -187767,6 +220096,12 @@ OXR1 + + + + OXR1 + + @@ -187803,6 +220138,12 @@ polynucleotide kinase 3-prime phosphatase PNKP + + + + PNKP + + @@ -187846,6 +220187,12 @@ PCDH12 + + + + PCDH12 + + @@ -187881,6 +220228,12 @@ CIT + + + + CIT + + @@ -187906,6 +220259,12 @@ SLC35A3 + + + + SLC35A3 + + @@ -187931,6 +220290,12 @@ SLC35A1 + + + + SLC35A1 + + @@ -187943,6 +220308,12 @@ hyperaldosteronism, familial, type 2 hyperaldosteronism, familial, type 2 + + + + HALD2 + + @@ -187969,6 +220340,12 @@ myopathy, proximal, with ophthalmoplegia congenital myopathy 6 with ophthalmoplegia + + + + CMYO6 + + @@ -188016,6 +220393,12 @@ solute carrier family 26, member 4 SLC26A4 + + + + SLC26A4 + + @@ -188041,6 +220424,12 @@ FBXO7 + + + + FBXO7 + + @@ -188072,6 +220461,12 @@ FBXW11 + + + + FBXW11 + + @@ -188098,6 +220493,12 @@ FBXL3 + + + + FBXL3 + + @@ -188122,6 +220523,12 @@ FBXL4 + + + + FBXL4 + + @@ -188147,6 +220554,12 @@ KIF20A + + + + KIF20A + + @@ -188179,6 +220592,12 @@ retinal degeneration, late-onset, autosomal dominant late-onset retinal degeneration + + + + LORD + + @@ -188213,6 +220632,12 @@ BTG4 + + + + BTG4 + + @@ -188225,6 +220650,12 @@ palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair cardiomyopathy, dilated, with woolly hair and keratoderma + + + + DCWHK + + @@ -188250,6 +220681,12 @@ ACSL5 + + + + ACSL5 + + @@ -188283,6 +220720,12 @@ BICRA + + + + BICRA + + @@ -188311,6 +220754,12 @@ TRPM7 + + + + TRPM7 + + @@ -188345,6 +220794,12 @@ This term has one or more labels that end with ', INCLUDED'. VAPB + + + + VAPB + + @@ -188370,6 +220825,12 @@ SIK1 + + + + SIK1 + + @@ -188401,6 +220862,12 @@ rip4 RIPK4 + + + + RIPK4 + + @@ -188417,23 +220884,17 @@ - - - - - - - - - - - - MMDS1 mmds multiple mitochondrial dysfunctions syndrome 1 multiple mitochondrial dysfunctions syndrome 1 + + + + MMDS1 + + @@ -188464,6 +220925,12 @@ spt1 SPTLC1 + + + + SPTLC1 + + @@ -188490,6 +220957,12 @@ SPTLC2 + + + + SPTLC2 + + @@ -188529,6 +221002,12 @@ KCNH5 + + + + KCNH5 + + @@ -188556,6 +221035,12 @@ ICOSLG + + + + ICOSLG + + @@ -188580,6 +221065,12 @@ KCNK4 + + + + KCNK4 + + @@ -188604,6 +221095,12 @@ KCNJ16 + + + + KCNJ16 + + @@ -188616,6 +221113,12 @@ fanconi anemia, complementation group d1 fanconi anemia, complementation group d1 + + + + FANCD1 + + @@ -188644,6 +221147,12 @@ periaxin PRX + + + + PRX + + @@ -188660,6 +221169,12 @@ spinal muscular atrophy, jerash type neuronopathy, distal hereditary motor, autosomal recessive 2 + + + + HMNR2 + + @@ -188677,6 +221192,12 @@ otosclerosis 2 otosclerosis 2 + + + + OTSC2 + + @@ -188696,6 +221217,12 @@ cataract, central saccular, with sutural opacities cataract 25 + + + + CTRCT25 + + @@ -188711,6 +221238,12 @@ prostaglandin-endoperoxide synthase 1 deficiency, platelet bleeding disorder, platelet-type, 12 + + + + BDPLT12 + + @@ -188729,6 +221262,12 @@ microphthalmia/coloboma 2 microphthalmia/coloboma 2 + + + + MCOPCB2 + + @@ -188753,6 +221292,12 @@ KY + + + + KY + + @@ -188781,6 +221326,12 @@ sclerostin SOST + + + + SOST + + @@ -188805,6 +221356,12 @@ TUBA8 + + + + TUBA8 + + @@ -188830,6 +221387,12 @@ HHAT + + + + HHAT + + @@ -188857,6 +221420,12 @@ EXTL3 + + + + EXTL3 + + @@ -188897,6 +221466,12 @@ LDLRAP1 + + + + LDLRAP1 + + @@ -188923,6 +221498,12 @@ BCO1 + + + + BCO1 + + @@ -188941,6 +221522,12 @@ cataract, autosomal recessive, early-onset, pulverulent cataract 26, multiple types + + + + CTRCT26 + + @@ -188958,6 +221545,12 @@ exudative vitreoretinopathy 3 exudative vitreoretinopathy 3 + + + + EVR3 + + @@ -188970,6 +221563,12 @@ seizures, benign familial infantile, 2 seizures, benign familial infantile, 2 + + + + BFIS2 + + @@ -188995,6 +221594,12 @@ HID1 + + + + HID1 + + @@ -189019,6 +221624,12 @@ SPINK2 + + + + SPINK2 + + @@ -189042,6 +221653,12 @@ PIGQ + + + + PIGQ + + @@ -189078,6 +221695,12 @@ ru2s DCDC2 + + + + DCDC2 + + @@ -189112,6 +221735,12 @@ SLC45A1 + + + + SLC45A1 + + @@ -189136,6 +221765,12 @@ TDP2 + + + + TDP2 + + @@ -189159,6 +221794,12 @@ KLHL3 + + + + KLHL3 + + @@ -189177,6 +221818,12 @@ onychodysplasia, isolated congenital nail disorder, nonsyndromic congenital, 7 + + + + NDNC7 + + @@ -189202,6 +221849,12 @@ MAPRE2 + + + + MAPRE2 + + @@ -189225,6 +221878,12 @@ TEX14 + + + + TEX14 + + @@ -189250,6 +221909,12 @@ MOV10L1 + + + + MOV10L1 + + @@ -189273,6 +221938,12 @@ TEX15 + + + + TEX15 + + @@ -189297,6 +221968,12 @@ AMN + + + + AMN + + @@ -189324,6 +222001,12 @@ ZEB2 + + + + ZEB2 + + @@ -189335,6 +222018,12 @@ dermatitis, atopic, 2 dermatitis, atopic, 2 + + + + ATOD2 + + @@ -189353,6 +222042,12 @@ dermatitis, atopic, with asthma dermatitis, atopic, 3 + + + + ATOD3 + + @@ -189370,6 +222065,12 @@ dermatitis, atopic, 4 dermatitis, atopic, 4 + + + + ATOD4 + + @@ -189393,6 +222094,12 @@ myasthenic syndrome, congenital, 4a, slow-channel myasthenic syndrome, congenital, 4a, slow-channel + + + + CMS4A + + @@ -189422,6 +222129,12 @@ mitochondrial ribosomal protein s22 MRPS22 + + + + MRPS22 + + @@ -189457,6 +222170,12 @@ NUP62 + + + + NUP62 + + @@ -189474,6 +222193,12 @@ deafness, autosomal recessive 27 deafness, autosomal recessive 27 + + + + DFNB27 + + @@ -189491,6 +222216,12 @@ nonaka myopathy nonaka myopathy + + + + NM + + @@ -189501,6 +222232,12 @@ spondyloocular syndrome spondyloocular syndrome + + + + SOS + + @@ -189525,6 +222262,12 @@ POPDC3 + + + + POPDC3 + + @@ -189535,6 +222278,12 @@ basaloid follicular hamartoma syndrome, generalized, autosomal dominant basaloid follicular hamartoma syndrome, generalized, autosomal dominant + + + + GBFHS + + @@ -189560,6 +222309,12 @@ TMC6 + + + + TMC6 + + @@ -189585,6 +222340,12 @@ TMC8 + + + + TMC8 + + @@ -189601,6 +222362,12 @@ bone mineral density quantitative trait locus 2 bone mineral density quantitative trait locus 2 + + + + BMND2 + + @@ -189629,6 +222396,12 @@ hect domain and rcc1-like domain 2 HERC2 + + + + HERC2 + + @@ -189664,6 +222437,12 @@ narcolepsy 2, susceptibility to narcolepsy 2, susceptibility to + + + + NRCLP2 + + @@ -189681,6 +222460,12 @@ dermatitis, atopic, 5 dermatitis, atopic, 5 + + + + ATOD5 + + @@ -189698,6 +222483,12 @@ dermatitis, atopic, 6 dermatitis, atopic, 6 + + + + ATOD6 + + @@ -189721,6 +222512,12 @@ CASP14 + + + + CASP14 + + @@ -189744,6 +222541,12 @@ DMGDH + + + + DMGDH + + @@ -189767,6 +222570,12 @@ dmgdh deficiency dimethylglycine dehydrogenase deficiency + + + + DMGDHD + + @@ -189801,6 +222610,12 @@ RXYLT1 + + + + RXYLT1 + + @@ -189838,6 +222653,12 @@ atpis ATP11A + + + + ATP11A + + @@ -189862,6 +222683,12 @@ ATP8A2 + + + + ATP8A2 + + @@ -189895,6 +222722,12 @@ KCNK9 + + + + KCNK9 + + @@ -189923,6 +222756,12 @@ ZBTB7A + + + + ZBTB7A + + @@ -189952,6 +222791,12 @@ sk2 KCNN2 + + + + KCNN2 + + @@ -189984,6 +222829,12 @@ This term has one or more labels that end with ', INCLUDED'. KAT6B + + + + KAT6B + + @@ -190008,6 +222859,12 @@ SLC35C1 + + + + SLC35C1 + + @@ -190040,6 +222897,12 @@ fancj gene BRIP1 + + + + BRIP1 + + @@ -190063,6 +222926,12 @@ DNAH10 + + + + DNAH10 + + @@ -190095,6 +222964,12 @@ ECEL1 + + + + ECEL1 + + @@ -190122,6 +222997,12 @@ This term has one or more labels that end with ', INCLUDED'. glycine encephalopathy 1 + + + + GCE1 + + @@ -190153,6 +223034,12 @@ z-band alternatively spliced pdz motif-containing protein LDB3 + + + + LDB3 + + @@ -190181,6 +223068,12 @@ ALG1 + + + + ALG1 + + @@ -190205,6 +223098,12 @@ MLC1 + + + + MLC1 + + @@ -190232,6 +223131,12 @@ This term has one or more labels that end with ', INCLUDED'. parkinson disease 6, autosomal recessive early-onset + + + + PARK6 + + @@ -190258,6 +223163,12 @@ ANGPTL4 + + + + ANGPTL4 + + @@ -190282,6 +223193,12 @@ mitochondrial hmg-coa synthase deficiency 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency + + + + HMGCS2D + + @@ -190340,6 +223257,12 @@ stromal interaction molecule 1 STIM1 + + + + STIM1 + + @@ -190371,6 +223294,12 @@ wd repeat-containing protein 4 WDR4 + + + + WDR4 + + @@ -190397,6 +223326,12 @@ PCNT + + + + PCNT + + @@ -190414,6 +223349,12 @@ holoprosencephaly 6 holoprosencephaly 6 + + + + HPE6 + + @@ -190447,6 +223388,12 @@ PIGP + + + + PIGP + + @@ -190471,6 +223418,12 @@ DSE + + + + DSE + + @@ -190521,6 +223474,12 @@ PIGL + + + + PIGL + + @@ -190545,6 +223504,12 @@ GPRC5B + + + + GPRC5B + + @@ -190568,6 +223533,12 @@ RAB33B + + + + RAB33B + + @@ -190598,6 +223569,12 @@ dolichyl-phosphate mannosyltransferase 3 DPM3 + + + + DPM3 + + @@ -190625,6 +223602,12 @@ NKX6-2 + + + + NKX6-2 + + @@ -190660,6 +223643,12 @@ nucleotide-binding oligomerization domain protein 2 NOD2 + + + + NOD2 + + @@ -190694,6 +223683,12 @@ TRAIP + + + + TRAIP + + @@ -190723,6 +223718,12 @@ syndactyly, preaxial polydactyly, and sternal deformity acropectoral syndrome + + + + ACRPS + + @@ -190750,6 +223751,12 @@ VPS13A + + + + VPS13A + + @@ -190773,6 +223780,12 @@ UBR1 + + + + UBR1 + + @@ -190807,6 +223820,12 @@ PPP2R1A + + + + PPP2R1A + + @@ -190833,6 +223852,12 @@ EED + + + + EED + + @@ -190870,6 +223895,12 @@ artemis DCLRE1C + + + + DCLRE1C + + @@ -190920,6 +223951,12 @@ PDP1 + + + + PDP1 + + @@ -190949,6 +223986,12 @@ kinesin family member 1b KIF1B + + + + KIF1B + + @@ -190972,6 +224015,12 @@ HAX1 + + + + HAX1 + + @@ -190997,6 +224046,12 @@ BTNL2 + + + + BTNL2 + + @@ -191011,6 +224066,12 @@ spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 + + + + SCAN2 + + @@ -191035,6 +224096,12 @@ transaldolase deficiency transaldolase deficiency + + + + TALDOD + + @@ -191060,6 +224127,12 @@ POLR3K + + + + POLR3K + + @@ -191077,6 +224150,12 @@ deafness, autosomal dominant 18 deafness, autosomal dominant 18 + + + + DFNA18 + + @@ -191100,6 +224179,12 @@ ALX3 + + + + ALX3 + + @@ -191125,6 +224210,12 @@ EXOSC8 + + + + EXOSC8 + + @@ -191159,6 +224250,12 @@ ZBTB20 + + + + ZBTB20 + + @@ -191183,6 +224280,12 @@ CPSF1 + + + + CPSF1 + + @@ -191207,6 +224310,12 @@ CPSF3 + + + + CPSF3 + + @@ -191233,6 +224342,12 @@ SRRM2 + + + + SRRM2 + + @@ -191259,6 +224374,12 @@ RNASEH2A + + + + RNASEH2A + + @@ -191275,6 +224396,12 @@ fasting insulin level quantitative trait locus 1 fasting insulin level quantitative trait locus 1 + + + + FIQTL1 + + @@ -191298,6 +224425,12 @@ ARNT2 + + + + ARNT2 + + @@ -191322,6 +224455,12 @@ CD96 + + + + CD96 + + @@ -191347,6 +224486,12 @@ IFT122 + + + + IFT122 + + @@ -191374,6 +224519,12 @@ MBOAT7 + + + + MBOAT7 + + @@ -191425,6 +224576,12 @@ phrase speech delay, autism-related intellectual developmental disorder with autism and speech delay + + + + IDDAS + + @@ -191488,6 +224645,12 @@ glucosidase 1 deficiency congenital disorder of glycosylation, type iib + + + + CDG2B + + @@ -191512,6 +224675,12 @@ DNAJC12 + + + + DNAJC12 + + @@ -191536,6 +224705,12 @@ TBX20 + + + + TBX20 + + @@ -191562,6 +224737,12 @@ SMC3 + + + + SMC3 + + @@ -191585,6 +224766,12 @@ retinitis pigmentosa 28 retinitis pigmentosa 28 + + + + RP28 + + @@ -191610,6 +224797,12 @@ hemochromatosis, type 4 hemochromatosis, type 4 + + + + HFE4 + + @@ -191636,6 +224829,12 @@ vocal cord and pharyngeal dysfunction with distal myopathy, formerly amyotrophic lateral sclerosis 21 + + + + ALS21 + + @@ -191650,6 +224849,12 @@ hmsn 2c hereditary motor and sensory neuropathy, type 2c + + + + HMSN2C + + @@ -191662,6 +224867,12 @@ rippling muscle disease 2 rippling muscle disease 2 + + + + RMD2 + + @@ -191701,6 +224912,12 @@ This term has one or more labels that end with ', INCLUDED'. TWNK + + + + TWNK + + @@ -191729,6 +224946,12 @@ MRTFA + + + + MRTFA + + @@ -191746,6 +224969,12 @@ goiter, multinodular 3 goiter, multinodular 3 + + + + MNG3 + + @@ -191772,6 +225001,12 @@ PBRM1 + + + + PBRM1 + + @@ -191795,6 +225030,12 @@ PIGN + + + + PIGN + + @@ -191819,6 +225060,12 @@ ADGRE2 + + + + ADGRE2 + + @@ -191843,6 +225090,12 @@ PIP5K1C + + + + PIP5K1C + + @@ -191877,6 +225130,12 @@ SLC44A1 + + + + SLC44A1 + + @@ -191904,6 +225163,12 @@ SLC44A4 + + + + SLC44A4 + + @@ -191929,6 +225194,12 @@ HPS3 + + + + HPS3 + + @@ -191955,6 +225226,12 @@ SLURP1 + + + + SLURP1 + + @@ -191988,6 +225265,12 @@ TRIM8 + + + + TRIM8 + + @@ -192012,6 +225295,12 @@ MYOCD + + + + MYOCD + + @@ -192038,6 +225327,12 @@ diamond-blackfan anemia 2 diamond-blackfan anemia 2 + + + + DBA2 + + @@ -192061,6 +225356,12 @@ solute carrier family 2 (facilitated glucose transporter), member 9 SLC2A9 + + + + SLC2A9 + + @@ -192084,6 +225385,12 @@ RAB23 + + + + RAB23 + + @@ -192108,6 +225415,12 @@ SLC2A10 + + + + SLC2A10 + + @@ -192136,6 +225449,12 @@ bbs2 gene BBS2 + + + + BBS2 + + @@ -192160,6 +225479,12 @@ SLC19A3 + + + + SLC19A3 + + @@ -192185,6 +225510,12 @@ ATP5F1E + + + + ATP5F1E + + @@ -192227,6 +225558,12 @@ PANK2 + + + + PANK2 + + @@ -192269,6 +225606,12 @@ seipin BSCL2 + + + + BSCL2 + + @@ -192282,6 +225625,12 @@ neuroferritinopathy neurodegeneration with brain iron accumulation 3 + + + + NBIA3 + + @@ -192305,6 +225654,12 @@ PANK4 + + + + PANK4 + + @@ -192337,6 +225692,12 @@ diamond-blackfan anemia 15 with mandibulofacial dysostosis diamond-blackfan anemia 15 with mandibulofacial dysostosis + + + + DBA15 + + @@ -192366,6 +225727,12 @@ genitopatellar syndrome genitopatellar syndrome + + + + GTPTS + + @@ -192397,6 +225764,12 @@ diabetes mellitus, permanent, of infancy diabetes mellitus, permanent neonatal, 1 + + + + PNDM1 + + @@ -192447,6 +225820,12 @@ EXOSC9 + + + + EXOSC9 + + @@ -192513,6 +225892,12 @@ IRX5 + + + + IRX5 + + @@ -192538,6 +225923,12 @@ BHLHE41 + + + + BHLHE41 + + @@ -192585,6 +225976,12 @@ wolframin er transmembrane glycoprotein WFS1 + + + + WFS1 + + @@ -192615,6 +226012,12 @@ solute carrier family 45, member 2 SLC45A2 + + + + SLC45A2 + + @@ -192639,6 +226042,12 @@ SLC28A1 + + + + SLC28A1 + + @@ -192664,6 +226073,12 @@ SELENON + + + + SELENON + + @@ -192689,6 +226104,12 @@ SPTBN4 + + + + SPTBN4 + + @@ -192711,6 +226132,12 @@ This term has one or more labels that end with ', INCLUDED'. atrioventricular septal defect + + + + AVSD + + @@ -192724,6 +226151,12 @@ This term has one or more labels that end with ', INCLUDED'. atrioventricular septal defect, susceptibility to, 2 + + + + AVSD2 + + @@ -192747,6 +226180,12 @@ mental retardation, short stature, facial anomalies, and joint dislocations intellectual developmental disorder with short stature, facial anomalies, and speech defects + + + + IDDSFAS + + @@ -192772,6 +226211,12 @@ IKZF3 + + + + IKZF3 + + @@ -192798,6 +226243,12 @@ NT5C3A + + + + NT5C3A + + @@ -192826,6 +226277,12 @@ membrane-type frizzled-related protein MFRP + + + + MFRP + + @@ -192853,6 +226310,12 @@ AGO1 + + + + AGO1 + + @@ -192878,6 +226341,12 @@ AGO2 + + + + AGO2 + + @@ -192909,6 +226378,12 @@ sh3 and multiple ankyrin repeat domains 3 SHANK3 + + + + SHANK3 + + @@ -192921,6 +226396,12 @@ telomeric 22q13 monosomy syndrome phelan-mcdermid syndrome + + + + PHMDS + + @@ -192949,6 +226430,12 @@ ASPSCR1 + + + + ASPSCR1 + + @@ -192974,6 +226461,12 @@ IKZF5 + + + + IKZF5 + + @@ -192992,6 +226485,12 @@ thyroid cancer, nonmedullary, 3 thyroid cancer, nonmedullary, 3 + + + + NMTC3 + + @@ -193038,6 +226537,12 @@ kiaa0928 DICER1 + + + + DICER1 + + @@ -193076,6 +226581,12 @@ alveolar soft part sarcoma alveolar soft part sarcoma + + + + ASPS + + @@ -193104,6 +226615,12 @@ SUZ12 + + + + SUZ12 + + @@ -193128,6 +226645,12 @@ STAMBP + + + + STAMBP + + @@ -193163,6 +226686,12 @@ tir domain-containing adaptor protein TIRAP + + + + TIRAP + + @@ -193204,6 +226733,12 @@ stature quantitative trait locus 2 stature quantitative trait locus 2 + + + + STQTL2 + + @@ -193220,6 +226755,12 @@ stature quantitative trait locus 3 stature quantitative trait locus 3 + + + + STQTL3 + + @@ -193236,6 +226777,12 @@ stature quantitative trait locus 4 stature quantitative trait locus 4 + + + + STQTL4 + + @@ -193262,6 +226809,12 @@ paget disease of bone 4 paget disease of bone 4 + + + + PDB4 + + @@ -193294,6 +226847,12 @@ lectin, c-type, superfamily member 12 CLEC7A + + + + CLEC7A + + @@ -193328,6 +226887,12 @@ wingless-type mmtv integration site family, member 10a WNT10A + + + + WNT10A + + @@ -193353,6 +226918,12 @@ TNFRSF13C + + + + TNFRSF13C + + @@ -193375,6 +226946,12 @@ disrupted 1n schizophrenia 2 DISC2 + + + + DISC2 + + @@ -193409,6 +226986,12 @@ cystinosin CTNS + + + + CTNS + + @@ -193434,6 +227017,12 @@ EIF2B3 + + + + EIF2B3 + + @@ -193471,6 +227060,12 @@ FBXW7 + + + + FBXW7 + + @@ -193488,6 +227083,12 @@ deafness, autosomal dominant 24 deafness, autosomal dominant 24 + + + + DFNA24 + + @@ -193521,6 +227122,12 @@ PCDHGC4 + + + + PCDHGC4 + + @@ -193545,6 +227152,12 @@ CYFIP2 + + + + CYFIP2 + + @@ -193568,6 +227181,12 @@ parkinson disease 7, autosomal recessive early-onset parkinson disease 7, autosomal recessive early-onset + + + + PARK7 + + @@ -193585,6 +227204,12 @@ heterotaxy, visceral, 3, autosomal heterotaxy, visceral, 3, autosomal + + + + HTX3 + + @@ -193609,6 +227234,12 @@ SIX6 + + + + SIX6 + + @@ -193622,6 +227253,12 @@ This term has one or more labels that end with ', INCLUDED'. deafness, autosomal dominant 22 + + + + DFNA22 + + @@ -193647,6 +227284,12 @@ PSTPIP1 + + + + PSTPIP1 + + @@ -193664,6 +227307,12 @@ inflammatory bowel disease 5 inflammatory bowel disease 5 + + + + IBD5 + + @@ -193697,6 +227346,12 @@ APTX + + + + APTX + + @@ -193726,6 +227381,12 @@ espin, mouse, homolog of ESPN + + + + ESPN + + @@ -193763,6 +227424,12 @@ kiaa1563 ALS2 + + + + ALS2 + + @@ -193774,6 +227441,12 @@ primary lateral sclerosis, juvenile primary lateral sclerosis, juvenile + + + + PLSJ + + @@ -193808,6 +227481,12 @@ AGR2 + + + + AGR2 + + @@ -193833,6 +227512,12 @@ ACP4 + + + + ACP4 + + @@ -193856,6 +227541,12 @@ interleukin 2 receptor, alpha, deficiency of immunodeficiency 41 with lymphoproliferation and autoimmunity + + + + IMD41 + + @@ -193885,6 +227576,12 @@ apolipoprotein a-v APOA5 + + + + APOA5 + + @@ -193918,6 +227615,12 @@ TPK1 + + + + TPK1 + + @@ -193941,6 +227644,12 @@ FMN2 + + + + FMN2 + + @@ -193965,6 +227674,12 @@ B3GAT3 + + + + B3GAT3 + + @@ -193999,6 +227714,12 @@ MAGI2 + + + + MAGI2 + + @@ -194025,6 +227746,12 @@ NEDD4L + + + + NEDD4L + + @@ -194049,6 +227776,12 @@ CATSPER1 + + + + CATSPER1 + + @@ -194068,6 +227801,12 @@ maturity-onset diabetes of the young maturity-onset diabetes of the young + + + + MODY + + @@ -194079,6 +227818,12 @@ mody, type 4 maturity-onset diabetes of the young, type 4 + + + + MODY4 + + @@ -194090,6 +227835,12 @@ mody, type 6 maturity-onset diabetes of the young, type 6 + + + + MODY6 + + @@ -194120,6 +227871,12 @@ ush3a gene CLRN1 + + + + CLRN1 + + @@ -194154,6 +227911,12 @@ tnx deficiency ehlers-danlos syndrome, classic-like, 1 + + + + EDSCLL1 + + @@ -194180,6 +227943,12 @@ ITCH + + + + ITCH + + @@ -194210,6 +227979,12 @@ tumor endothelial marker 8 ANTXR1 + + + + ANTXR1 + + @@ -194234,6 +228009,12 @@ SLC13A3 + + + + SLC13A3 + + @@ -194258,6 +228039,12 @@ bsnd gene BSND + + + + BSND + + @@ -194318,6 +228105,12 @@ pyrin domain-containing apaf1-like protein 1 NLRP3 + + + + NLRP3 + + @@ -194349,6 +228142,12 @@ wdr15 WDR11 + + + + WDR11 + + @@ -194375,6 +228174,12 @@ DHCR24 + + + + DHCR24 + + @@ -194399,6 +228204,12 @@ PRPF31 + + + + PRPF31 + + @@ -194423,6 +228234,12 @@ ELMO2 + + + + ELMO2 + + @@ -194458,6 +228275,12 @@ zinc finger mynd domain-containing protein 6 EGLN1 + + + + EGLN1 + + @@ -194489,6 +228312,12 @@ huntington disease-like 2 huntington disease-like 2 + + + + HDL2 + + @@ -194519,6 +228348,12 @@ spg3a gene ATL1 + + + + ATL1 + + @@ -194542,6 +228377,12 @@ STRC + + + + STRC + + @@ -194573,6 +228414,12 @@ protease, serine, 25 HTRA2 + + + + HTRA2 + + @@ -194583,6 +228430,12 @@ persistent polyclonal b-cell lymphocytosis persistent polyclonal b-cell lymphocytosis + + + + PPBL + + @@ -194611,6 +228464,12 @@ TXNRD2 + + + + TXNRD2 + + @@ -194628,6 +228487,12 @@ deafness, autosomal dominant 30 deafness, autosomal dominant 30 + + + + DFNA30 + + @@ -194654,6 +228519,12 @@ LRBA + + + + LRBA + + @@ -194679,6 +228550,12 @@ EIF2B2 + + + + EIF2B2 + + @@ -194728,6 +228605,12 @@ sister chromatid cohesion 1 RAD21 + + + + RAD21 + + @@ -194794,6 +228677,12 @@ This term has one or more labels that end with ', INCLUDED'. GBA + + + + GBA + + @@ -194819,6 +228708,12 @@ HAMP + + + + HAMP + + @@ -194844,6 +228739,12 @@ NHP2 + + + + NHP2 + + @@ -194880,6 +228781,12 @@ nucleolar protein family a, member 3 NOP10 + + + + NOP10 + + @@ -194905,6 +228812,12 @@ CD320 + + + + CD320 + + @@ -194939,6 +228852,12 @@ protection of telomeres 1 POT1 + + + + POT1 + + @@ -194969,6 +228888,12 @@ zinc metalloproteinase ste24 ZMPSTE24 + + + + ZMPSTE24 + + @@ -194989,6 +228914,12 @@ This term has one or more labels that end with ', INCLUDED'. charcot-marie-tooth disease, dominant intermediate B + + + + CMTDIB + + @@ -195013,6 +228944,12 @@ charcot-marie-tooth neuropathy, type 2gg charcot-marie-tooth disease, axonal, type 2gg + + + + CMT2GG + + @@ -195037,6 +228974,12 @@ EXOSC3 + + + + EXOSC3 + + @@ -195061,6 +229004,12 @@ EXOSC5 + + + + EXOSC5 + + @@ -195085,6 +229034,12 @@ EXOSC1 + + + + EXOSC1 + + @@ -195117,6 +229072,12 @@ st3n ST3GAL3 + + + + ST3GAL3 + + @@ -195141,6 +229102,12 @@ IL17F + + + + IL17F + + @@ -195193,6 +229160,12 @@ MPIG6B + + + + MPIG6B + + @@ -195224,6 +229197,12 @@ solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 SLC25A19 + + + + SLC25A19 + + @@ -195258,6 +229237,12 @@ growth/differentiation factor 3 GDF3 + + + + GDF3 + + @@ -195285,6 +229270,12 @@ SRGAP1 + + + + SRGAP1 + + @@ -195309,6 +229300,12 @@ MLPH + + + + MLPH + + @@ -195368,6 +229365,12 @@ CYP27A1 + + + + CYP27A1 + + @@ -195392,6 +229395,12 @@ SCGB3A2 + + + + SCGB3A2 + + @@ -195421,6 +229430,12 @@ myosin 5b MYO5B + + + + MYO5B + + @@ -195449,6 +229464,12 @@ HDAC9 + + + + HDAC9 + + @@ -195474,6 +229495,12 @@ GFM2 + + + + GFM2 + + @@ -195499,6 +229526,12 @@ ichthyosis, lamellar, 5, formerly ichthyosis, congenital, autosomal recessive 3 + + + + ARCI3 + + @@ -195524,6 +229557,12 @@ LZTS1 + + + + LZTS1 + + @@ -195537,6 +229576,12 @@ periodic vestibulocerebellar ataxia episodic ataxia, type 4 + + + + EA4 + + @@ -195555,6 +229600,12 @@ episodic ataxia, type 3 episodic ataxia, type 3 + + + + EA3 + + @@ -195583,6 +229634,12 @@ BCL11A + + + + BCL11A + + @@ -195614,6 +229671,12 @@ radiation-induced tumor suppressor gene 1 BCL11B + + + + BCL11B + + @@ -195639,6 +229702,12 @@ MYLK2 + + + + MYLK2 + + @@ -195663,6 +229732,12 @@ LZTFL1 + + + + LZTFL1 + + @@ -195687,6 +229762,12 @@ SFRP4 + + + + SFRP4 + + @@ -195699,6 +229780,12 @@ oculocutaneous albinism, type 4 albinism, oculocutaneous, type 4 + + + + OCA4 + + @@ -195711,6 +229798,12 @@ vitiligo-associated multiple autoimmune disease susceptibility 1 vitiligo-associated multiple autoimmune disease susceptibility 1 + + + + VAMAS1 + + @@ -195740,6 +229833,12 @@ outer mitochondrial membrane lipid metabolism regulator opa3 OPA3 + + + + OPA3 + + @@ -195763,6 +229862,12 @@ polysubstance abuse, susceptibility to polysubstance abuse, susceptibility to + + + + PSAB + + @@ -195788,6 +229893,12 @@ DLL1 + + + + DLL1 + + @@ -195813,6 +229924,12 @@ PTPN23 + + + + PTPN23 + + @@ -195841,6 +229958,12 @@ enamelin ENAM + + + + ENAM + + @@ -195863,6 +229986,12 @@ charcot-marie-tooth neuropathy, type 2f charcot-marie-tooth disease, axonal, type 2f + + + + CMT2F + + @@ -195897,6 +230026,12 @@ fukutin-related protein FKRP + + + + FKRP + + @@ -195940,6 +230075,12 @@ This term has one or more labels that end with ', INCLUDED'. PAX3 + + + + PAX3 + + @@ -195980,6 +230121,12 @@ ganglioside-induced differentiation-associated protein 1 GDAP1 + + + + GDAP1 + + @@ -196008,6 +230155,12 @@ edar-associated death domain EDARADD + + + + EDARADD + + @@ -196046,6 +230199,12 @@ YAP1 + + + + YAP1 + + @@ -196087,6 +230246,12 @@ dnase 3 TREX1 + + + + TREX1 + + @@ -196100,6 +230265,12 @@ muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 + + + + MDDGB5 + + @@ -196117,6 +230288,12 @@ high density lipoprotein cholesterol level quantitative trait locus 1 high density lipoprotein cholesterol level quantitative trait locus 1 + + + + HDLCQ1 + + @@ -196133,6 +230310,12 @@ dyslexia, susceptibility to, 6 dyslexia, susceptibility to, 6 + + + + DYX6 + + @@ -196168,6 +230351,12 @@ IFT57 + + + + IFT57 + + @@ -196193,6 +230382,12 @@ SMARCAL1 + + + + SMARCAL1 + + @@ -196217,6 +230412,12 @@ DAAM2 + + + + DAAM2 + + @@ -196240,6 +230441,12 @@ GNMT + + + + GNMT + + @@ -196266,6 +230473,12 @@ RIMS2 + + + + RIMS2 + + @@ -196310,6 +230523,12 @@ SP7 + + + + SP7 + + @@ -196336,6 +230555,12 @@ TMPRSS15 + + + + TMPRSS15 + + @@ -196384,6 +230609,12 @@ This term has one or more labels that end with ', INCLUDED'. NLRP1 + + + + NLRP1 + + @@ -196409,6 +230640,12 @@ GFM1 + + + + GFM1 + + @@ -196426,6 +230663,12 @@ amyotrophic lateral sclerosis 3 amyotrophic lateral sclerosis 3 + + + + ALS3 + + @@ -196443,6 +230686,12 @@ body mass index quantitative trait locus 1 body mass index quantitative trait locus 1 + + + + BMIQ1 + + @@ -196468,6 +230717,12 @@ body mass index quantitative trait locus 2 body mass index quantitative trait locus 2 + + + + BMIQ2 + + @@ -196492,6 +230747,12 @@ HAVCR2 + + + + HAVCR2 + + @@ -196524,6 +230785,12 @@ spinocerebellar ataxia 16, formerly spinocerebellar ataxia 15 + + + + SCA15 + + @@ -196534,6 +230801,12 @@ melanoma, uveal, susceptibility to, 1 melanoma, uveal, susceptibility to, 1 + + + + UVM1 + + @@ -196550,6 +230823,12 @@ melanoma, uveal, susceptibility to, 2 melanoma, uveal, susceptibility to, 2 + + + + UVM2 + + @@ -196567,6 +230846,12 @@ waardenburg syndrome, type 2c waardenburg syndrome, type 2c + + + + WS2C + + @@ -196618,6 +230903,12 @@ leucine-rich repeat-containing g protein-coupled receptor 4 LGR4 + + + + LGR4 + + @@ -196635,6 +230926,12 @@ inflammatory bowel disease 8 inflammatory bowel disease 8 + + + + IBD8 + + @@ -196680,6 +230977,12 @@ This term has one or more labels that end with ', INCLUDED'. GP1BA + + + + GP1BA + + @@ -196705,6 +231008,12 @@ UPB1 + + + + UPB1 + + @@ -196722,6 +231031,12 @@ inflammatory bowel disease 6 inflammatory bowel disease 6 + + + + IBD6 + + @@ -196739,6 +231054,12 @@ inflammatory bowel disease 4 inflammatory bowel disease 4 + + + + IBD4 + + @@ -196765,6 +231086,12 @@ TRPV6 + + + + TRPV6 + + @@ -196793,6 +231120,12 @@ NSD1 + + + + NSD1 + + @@ -196818,6 +231151,12 @@ HPS4 + + + + HPS4 + + @@ -196829,6 +231168,12 @@ cardiomyopathy, dilated, 1l cardiomyopathy, dilated, 1l + + + + CMD1L + + @@ -196854,6 +231199,12 @@ EIF2B1 + + + + EIF2B1 + + @@ -196879,6 +231230,12 @@ EIF2B4 + + + + EIF2B4 + + @@ -196904,6 +231261,12 @@ glaucoma 1, open angle, B glaucoma 1, open angle, B + + + + GLC1B + + @@ -196915,6 +231278,12 @@ lymphangiomyomatosis lymphangioleiomyomatosis + + + + LAM + + @@ -196939,6 +231308,12 @@ TRAF7 + + + + TRAF7 + + @@ -196952,6 +231327,12 @@ parkinson disease 9, autosomal recessive, juvenile-onset kufor-rakeb syndrome + + + + KRS + + @@ -196976,6 +231357,12 @@ NUP155 + + + + NUP155 + + @@ -197002,6 +231389,12 @@ PKHD1 + + + + PKHD1 + + @@ -197014,6 +231407,12 @@ dyskinesia, familial, with facial myokymia dyskinesia with orofacial involvement, autosomal dominant + + + + DSKOD + + @@ -197025,6 +231424,12 @@ deafness, autosomal dominant 36 deafness, autosomal dominant 36 + + + + DFNA36 + + @@ -197054,6 +231459,12 @@ transmembrane cochlear-expressed gene 1 TMC1 + + + + TMC1 + + @@ -197071,6 +231482,12 @@ split-hand/foot malformation 5 split-hand/foot malformation 5 + + + + SHFM5 + + @@ -197097,6 +231514,12 @@ PRSS12 + + + + PRSS12 + + @@ -197115,6 +231538,12 @@ specific language impairment quantitative trait locus on chromosome 16 specific language impairment 1 + + + + SLI1 + + @@ -197133,6 +231562,12 @@ specific language impairment quantitative trait locus on chromosome 19 specific language impairment 2 + + + + SLI2 + + @@ -197155,6 +231590,12 @@ van der woude syndrome 2 van der woude syndrome 2 + + + + VWS2 + + @@ -197196,6 +231637,12 @@ solute carrier family 26 (sulfate transporter), member 2 SLC26A2 + + + + SLC26A2 + + @@ -197218,6 +231665,12 @@ partial lipodystrophy, congenital cataracts, with or without neurodegeneration syndrome lipodystrophy, familial partial, type 7 + + + + FPLD7 + + @@ -197243,6 +231696,12 @@ MAPKAPK5 + + + + MAPKAPK5 + + @@ -197272,6 +231731,12 @@ cln6 transmembrane er protein CLN6 + + + + CLN6 + + @@ -197302,6 +231767,12 @@ solute carrier family 12 (potassium/chloride transporter), member 5 SLC12A5 + + + + SLC12A5 + + @@ -197327,6 +231798,12 @@ OSBPL2 + + + + OSBPL2 + + @@ -197351,6 +231828,12 @@ TLL1 + + + + TLL1 + + @@ -197364,6 +231847,12 @@ seckel-type dwarfism 2 seckel syndrome 2 + + + + SCKL2 + + @@ -197388,6 +231877,12 @@ VEZF1 + + + + VEZF1 + + @@ -197427,6 +231922,12 @@ sam domain- and hd domain-containing protein 1 SAMHD1 + + + + SAMHD1 + + @@ -197451,6 +231952,12 @@ PADI3 + + + + PADI3 + + @@ -197475,6 +231982,12 @@ DUOX2 + + + + DUOX2 + + @@ -197507,6 +232020,12 @@ MLYCD + + + + MLYCD + + @@ -197531,6 +232050,12 @@ hyperinsulinism-hyperammonemia syndrome hyperinsulinemic hypoglycemia, familial, 6 + + + + HHF6 + + @@ -197555,6 +232080,12 @@ ciliary dyskinesia, primary, 2, with or without situs inversus ciliary dyskinesia, primary, 2 + + + + CILD2 + + @@ -197565,6 +232096,12 @@ gastrointestinal stromal tumor gastrointestinal stromal tumor + + + + GIST + + @@ -197589,6 +232126,12 @@ TPO + + + + TPO + + @@ -197612,6 +232155,12 @@ spermatogenic failure 3 spermatogenic failure 3 + + + + SPGF3 + + @@ -197623,6 +232172,12 @@ myopathy, distal, with anterior tibial onset myopathy, distal, with anterior tibial onset + + + + DMAT + + @@ -197640,6 +232195,12 @@ circulating adiponectin quantitative trait locus on chromosome 5 adiponectin, serum level of, quantitative trait locus 2 + + + + ADIPQTL2 + + @@ -197657,6 +232218,12 @@ circulating adiponectin quantitative trait locus on chromosome 14 adiponectin, serum level of, quantitative trait locus 3 + + + + ADIPQTL3 + + @@ -197679,6 +232246,12 @@ hmh hemifacial myohyperplasia + + + + HFMH + + @@ -197693,6 +232266,12 @@ This term has one or more labels that end with ', INCLUDED'. glut1 deficiency syndrome 1 + + + + GLUT1DS1 + + @@ -197717,6 +232296,12 @@ TKT + + + + TKT + + @@ -197742,6 +232327,12 @@ CLEC1A + + + + CLEC1A + + @@ -197788,6 +232379,12 @@ This term has one or more labels that end with ', INCLUDED'. anorexia nervosa, susceptibility to + + + + ANON + + @@ -197804,6 +232401,12 @@ fetal hemoglobin quantitative trait locus 4 fetal hemoglobin quantitative trait locus 4 + + + + HBFQTL4 + + @@ -197828,6 +232431,12 @@ SLC25A10 + + + + SLC25A10 + + @@ -197855,6 +232464,12 @@ ST14 + + + + ST14 + + @@ -197907,6 +232522,12 @@ GAA + + + + GAA + + @@ -197930,6 +232551,12 @@ FTCD + + + + FTCD + + @@ -197954,6 +232581,12 @@ IL17RD + + + + IL17RD + + @@ -197982,6 +232615,12 @@ myosin 3a MYO3A + + + + MYO3A + + @@ -198012,6 +232651,12 @@ proline oxidase 1 PRODH + + + + PRODH + + @@ -198037,6 +232682,12 @@ ALDH4A1 + + + + ALDH4A1 + + @@ -198048,6 +232699,12 @@ fumaric aciduria fumarase deficiency + + + + FMRD + + @@ -198072,6 +232729,12 @@ PTCRA + + + + PTCRA + + @@ -198097,6 +232760,12 @@ COG5 + + + + COG5 + + @@ -198137,6 +232806,12 @@ protein o-mannose beta-1,2-n-acetylglucosaminyltransferase POMGNT1 + + + + POMGNT1 + + @@ -198160,6 +232835,12 @@ monosaccharide malabsorption glucose/galactose malabsorption + + + + GGM + + @@ -198184,6 +232865,12 @@ x25 FXN + + + + FXN + + @@ -198210,6 +232897,12 @@ AGTPBP1 + + + + AGTPBP1 + + @@ -198243,6 +232936,12 @@ nlr family, caspase recruitment domain-containing 4 NLRC4 + + + + NLRC4 + + @@ -198268,6 +232967,12 @@ KMT2C + + + + KMT2C + + @@ -198300,6 +233005,12 @@ trithorax, drosophila, homolog of, 2 KMT2B + + + + KMT2B + + @@ -198310,6 +233021,12 @@ digital arthropathy-brachydactyly, familial digital arthropathy-brachydactyly, familial + + + + FDAB + + @@ -198336,6 +233053,12 @@ RB1CC1 + + + + RB1CC1 + + @@ -198349,6 +233072,12 @@ This term has one or more labels that end with ', INCLUDED'. parasomnia, sleep bruxism type + + + + PSMNSB + + @@ -198382,6 +233111,12 @@ immunodeficiency with hyper-igm, type 3 immunodeficiency with hyper-igm, type 3 + + + + HIGM3 + + @@ -198406,6 +233141,12 @@ ALMS1 + + + + ALMS1 + + @@ -198431,6 +233172,12 @@ TCOF1 + + + + TCOF1 + + @@ -198459,6 +233206,12 @@ parkinson disease, age at onset of parkinson disease 10 + + + + PARK10 + + @@ -198473,6 +233226,12 @@ polymicrogyria, bilateral frontoparietal cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) + + + + CDCBM14A + + @@ -198531,6 +233290,12 @@ glutamate-cysteine ligase, catalytic subunit GCLC + + + + GCLC + + @@ -198579,6 +233344,12 @@ serpin peptidase inhibitor, clade g, member 1 C1NH + + + + C1NH + + @@ -198613,6 +233384,12 @@ hexosaminidase a HEXA + + + + HEXA + + @@ -198638,6 +233415,12 @@ JAM2 + + + + JAM2 + + @@ -198662,6 +233445,12 @@ JAM3 + + + + JAM3 + + @@ -198687,6 +233476,12 @@ HEXB + + + + HEXB + + @@ -198704,6 +233499,12 @@ hirschsprung disease, susceptibility to, 6 hirschsprung disease, susceptibility to, 6 + + + + HSCR6 + + @@ -198721,6 +233522,12 @@ hirschsprung disease, susceptibility to, 7 hirschsprung disease, susceptibility to, 7 + + + + HSCR7 + + @@ -198750,6 +233557,12 @@ phosphoglycerate dehydrogenase PHGDH + + + + PHGDH + + @@ -198775,6 +233588,12 @@ ATP7B + + + + ATP7B + + @@ -198799,6 +233618,12 @@ IRAK4 + + + + IRAK4 + + @@ -198824,6 +233649,12 @@ ACADS + + + + ACADS + + @@ -198847,6 +233678,12 @@ SUOX + + + + SUOX + + @@ -198858,6 +233695,12 @@ alzheimer disease, familial, 4 alzheimer disease 4 + + + + AD4 + + @@ -198882,6 +233725,12 @@ GALC + + + + GALC + + @@ -198906,6 +233755,12 @@ vascular malformation, primary intraosseous vascular malformation, primary intraosseous + + + + VMPI + + @@ -198940,6 +233795,12 @@ dyslexia, susceptibility to, 5 dyslexia, susceptibility to, 5 + + + + DYX5 + + @@ -198964,6 +233825,12 @@ LYST + + + + LYST + + @@ -199008,6 +233875,12 @@ MRM2 + + + + MRM2 + + @@ -199033,6 +233906,12 @@ CERS1 + + + + CERS1 + + @@ -199058,6 +233937,12 @@ OXGR1 + + + + OXGR1 + + @@ -199083,6 +233968,12 @@ bone mineral density, low, susceptibility to bone mineral density quantitative trait locus 3 + + + + BMND3 + + @@ -199109,6 +234000,12 @@ THOC1 + + + + THOC1 + + @@ -199152,6 +234049,12 @@ tyrosinase TYR + + + + TYR + + @@ -199179,6 +234082,12 @@ NDUFAF1 + + + + NDUFAF1 + + @@ -199207,6 +234116,12 @@ transient receptor potential cation channel, subfamily m, member 4 TRPM4 + + + + TRPM4 + + @@ -199240,6 +234155,12 @@ UROS + + + + UROS + + @@ -199270,6 +234191,12 @@ vacuolar proton pump B isoform 2 ATP6V1B2 + + + + ATP6V1B2 + + @@ -199293,6 +234220,12 @@ zinc finger homeobox 4 ZFHX4 + + + + ZFHX4 + + @@ -199323,6 +234256,12 @@ disrupted 1n bipolar disorder 1 ALG9 + + + + ALG9 + + @@ -199346,6 +234285,12 @@ usher syndrome, type 1g usher syndrome, type 1g + + + + USH1G + + @@ -199368,6 +234313,12 @@ low density lipoprotein receptor LDLR + + + + LDLR + + @@ -199392,6 +234343,12 @@ ANAPC7 + + + + ANAPC7 + + @@ -199427,6 +234384,12 @@ melanoma differentiation-associated gene 5 IFIH1 + + + + IFIH1 + + @@ -199444,6 +234407,12 @@ This term has one or more labels that end with ', INCLUDED'. albinism, oculocutaneous, type 1b + + + + OCA1B + + @@ -199473,6 +234442,12 @@ udp-galactose-4-epimerase GALE + + + + GALE + + @@ -199519,6 +234494,12 @@ WBP2 + + + + WBP2 + + @@ -199539,6 +234520,12 @@ This term has one or more labels that end with ', INCLUDED'. pulmonary disease, chronic obstructive + + + + COPD + + @@ -199551,6 +234538,12 @@ nephronophthisis 4, juvenile nephronophthisis 4 + + + + NPHP4 + + @@ -199579,6 +234572,12 @@ lecithin:cholesterol acyltransferase LCAT + + + + LCAT + + @@ -199603,6 +234602,12 @@ GEMIN4 + + + + GEMIN4 + + @@ -199639,6 +234644,12 @@ epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14 epilepsy, idiopathic generalized, susceptibility to, 2 + + + + EIG2 + + @@ -199664,6 +234675,12 @@ COG1 + + + + COG1 + + @@ -199688,6 +234705,12 @@ COG2 + + + + COG2 + + @@ -199712,6 +234735,12 @@ COG3 + + + + COG3 + + @@ -199741,6 +234770,12 @@ component of oligomeric golgi complex 4 COG4 + + + + COG4 + + @@ -199771,6 +234806,12 @@ kiaa1134 COG6 + + + + COG6 + + @@ -199794,6 +234835,12 @@ COG7 + + + + COG7 + + @@ -199818,6 +234865,12 @@ COG8 + + + + COG8 + + @@ -199844,6 +234897,12 @@ COQ8A + + + + COQ8A + + @@ -199868,6 +234927,12 @@ GGPS1 + + + + GGPS1 + + @@ -199905,6 +234970,12 @@ ELP4 + + + + ELP4 + + @@ -199941,6 +235012,12 @@ CHP1 + + + + CHP1 + + @@ -199969,6 +235046,12 @@ myeloperoxidase MPO + + + + MPO + + @@ -199999,6 +235082,12 @@ coatomer protein complex, subunit beta-2 COPB2 + + + + COPB2 + + @@ -200016,6 +235105,12 @@ senior-loken syndrome 3 senior-loken syndrome 3 + + + + SLSN3 + + @@ -200027,6 +235122,12 @@ senior-loken syndrome 4 senior-loken syndrome 4 + + + + SLSN4 + + @@ -200052,6 +235153,12 @@ GALT + + + + GALT + + @@ -200077,6 +235184,12 @@ EHMT1 + + + + EHMT1 + + @@ -200102,6 +235215,12 @@ PROK2 + + + + PROK2 + + @@ -200118,6 +235237,12 @@ brachydactyly, type a1, B brachydactyly, type a1, B + + + + BDA1B + + @@ -200142,6 +235267,12 @@ GEMIN5 + + + + GEMIN5 + + @@ -200166,6 +235297,12 @@ ACADM + + + + ACADM + + @@ -200191,6 +235328,12 @@ TRPM6 + + + + TRPM6 + + @@ -200216,6 +235359,12 @@ BDP1 + + + + BDP1 + + @@ -200262,6 +235411,12 @@ deafness, autosomal dominant 21 deafness, autosomal dominant 21 + + + + DFNA21 + + @@ -200291,6 +235446,12 @@ debranching enzyme 1, s. cerevisiae, homolog of DBR1 + + + + DBR1 + + @@ -200325,6 +235486,12 @@ This term has one or more labels that end with ', INCLUDED'. ATP6V1A + + + + ATP6V1A + + @@ -200348,6 +235515,12 @@ LIAS + + + + LIAS + + @@ -200401,6 +235574,12 @@ This term has one or more labels that end with ', INCLUDED'. SUFU + + + + SUFU + + @@ -200424,6 +235603,12 @@ IVD + + + + IVD + + @@ -200448,6 +235633,12 @@ EHHADH + + + + EHHADH + + @@ -200471,6 +235662,12 @@ OTOA + + + + OTOA + + @@ -200494,6 +235691,12 @@ deafness, autosomal recessive 22 deafness, autosomal recessive 22 + + + + DFNB22 + + @@ -200517,6 +235720,12 @@ multidrug resistance-associated protein 8 ABCC11 + + + + ABCC11 + + @@ -200542,6 +235751,12 @@ CLN3 + + + + CLN3 + + @@ -200575,6 +235790,12 @@ traf3-interacting protein 2 TRAF3IP2 + + + + TRAF3IP2 + + @@ -200616,6 +235837,12 @@ sca3 gene ATXN3 + + + + ATXN3 + + @@ -200632,6 +235859,12 @@ high density lipoprotein cholesterol level quantitative trait locus 2 high density lipoprotein cholesterol level quantitative trait locus 2 + + + + HDLCQ2 + + @@ -200662,6 +235895,12 @@ spacrcan IMPG2 + + + + IMPG2 + + @@ -200687,6 +235926,12 @@ USP18 + + + + USP18 + + @@ -200711,6 +235956,12 @@ SLC39A4 + + + + SLC39A4 + + @@ -200734,6 +235985,12 @@ parkinson disease 8, autosomal dominant parkinson disease 8, autosomal dominant + + + + PARK8 + + @@ -200763,6 +236020,12 @@ fkbp65 FKBP10 + + + + FKBP10 + + @@ -200792,6 +236055,12 @@ vanilloid receptor-like protein 3 TRPV3 + + + + TRPV3 + + @@ -200816,6 +236085,12 @@ ZMYND10 + + + + ZMYND10 + + @@ -200840,6 +236115,12 @@ HYAL1 + + + + HYAL1 + + @@ -200866,6 +236147,12 @@ NPRL2 + + + + NPRL2 + + @@ -200890,6 +236177,12 @@ NAA80 + + + + NAA80 + + @@ -200903,6 +236196,12 @@ multiple epiphyseal dysplasia, matn3-related epiphyseal dysplasia, multiple, 5 + + + + EDM5 + + @@ -200913,6 +236212,12 @@ GDMN 46,xy gonadal dysgenesis with minifascicular neuropathy + + + + GDMN + + @@ -200937,6 +236242,12 @@ CACNA2D2 + + + + CACNA2D2 + + @@ -200949,6 +236260,12 @@ whirler, mouse, homolog of deafness, autosomal recessive 31 + + + + DFNB31 + + @@ -200989,6 +236306,12 @@ This term has one or more labels that end with ', INCLUDED'. aortic aneurysm, familial thoracic 1 + + + + AAT1 + + @@ -201007,6 +236330,12 @@ faa2 aortic aneurysm, familial thoracic 2 + + + + AAT2 + + @@ -201033,6 +236362,12 @@ spinal muscular atrophy, distal, autosomal recessive, 3 neuronopathy, distal hereditary motor, autosomal recessive 3 + + + + HMNR3 + + @@ -201045,6 +236380,12 @@ congenital disorder of glycosylation, type iid congenital disorder of glycosylation, type iid + + + + CDG2D + + @@ -201085,6 +236426,12 @@ MTHFR MTHFR + + + + MTHFR + + @@ -201100,6 +236447,12 @@ spondylometaepiphyseal dysplasia, menger type anauxetic dysplasia 1 + + + + ANXD1 + + @@ -201125,6 +236478,12 @@ SLC22A12 + + + + SLC22A12 + + @@ -201136,6 +236495,12 @@ human lung enolase enolase alpha, lung-specific + + + + ENO1B + + @@ -201171,6 +236536,12 @@ nph1 NPHP1 + + + + NPHP1 + + @@ -201182,6 +236553,12 @@ deafness, autosomal recessive 30 deafness, autosomal recessive 30 + + + + DFNB30 + + @@ -201236,6 +236613,12 @@ This term has one or more labels that end with ', INCLUDED'. WT1 + + + + WT1 + + @@ -201314,6 +236697,12 @@ paired box gene 6 PAX6 + + + + PAX6 + + @@ -201339,6 +236728,12 @@ SPART + + + + SPART + + @@ -201352,6 +236747,12 @@ multisystem inflammatory disease, neonatal-onset cinca syndrome + + + + CINCA + + @@ -201395,6 +236796,12 @@ MCPH1 + + + + MCPH1 + + @@ -201419,6 +236826,12 @@ MRPL3 + + + + MRPL3 + + @@ -201446,6 +236859,12 @@ PLCB1 + + + + PLCB1 + + @@ -201479,6 +236898,12 @@ PROKR2 + + + + PROKR2 + + @@ -201490,6 +236915,12 @@ macrocephaly with multiple epiphyseal dysplasia and distinctive facies al-gazali-bakalinova syndrome + + + + AGBK + + @@ -201527,6 +236958,12 @@ specific language impairment quantitative trait locus on chromosome 13 specific language impairment 3 + + + + SLI3 + + @@ -201557,6 +236994,12 @@ spinocerebellar ataxia 17 spinocerebellar ataxia 17 + + + + SCA17 + + @@ -201584,6 +237027,12 @@ HNRNPDL + + + + HNRNPDL + + @@ -201608,6 +237057,12 @@ FANCA + + + + FANCA + + @@ -201650,6 +237105,12 @@ congenital disorder of glycosylation, type ig congenital disorder of glycosylation, type ig + + + + CDG1G + + @@ -201676,6 +237137,12 @@ ALG12 + + + + ALG12 + + @@ -201704,6 +237171,12 @@ DTNBP1 + + + + DTNBP1 + + @@ -201735,6 +237208,12 @@ moyamoya disease 2 moyamoya disease 2 + + + + MYMY2 + + @@ -201752,6 +237231,12 @@ spastic paraplegia 19, autosomal dominant spastic paraplegia 19, autosomal dominant + + + + SPG19 + + @@ -201777,6 +237262,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 + + + + MDDGC5 + + @@ -201803,6 +237294,12 @@ ZMIZ1 + + + + ZMIZ1 + + @@ -201835,6 +237332,12 @@ LOXL3 + + + + LOXL3 + + @@ -201858,6 +237361,12 @@ TSGA10 + + + + TSGA10 + + @@ -201887,6 +237396,12 @@ cysteine-rich protein with egf-like domains 1 CRELD1 + + + + CRELD1 + + @@ -201920,6 +237435,12 @@ RBM12 + + + + RBM12 + + @@ -201943,6 +237464,12 @@ FYCO1 + + + + FYCO1 + + @@ -201967,6 +237494,12 @@ SEC24D + + + + SEC24D + + @@ -201996,6 +237529,12 @@ ptf1-p48 PTF1A + + + + PTF1A + + @@ -202019,6 +237558,12 @@ thiamine metabolism dysfunction syndrome 3 (microcephaly type) microcephaly, amish type + + + + MCPHA + + @@ -202057,6 +237602,12 @@ TDP1 + + + + TDP1 + + @@ -202091,6 +237642,12 @@ interferon regulatory factor 6 IRF6 + + + + IRF6 + + @@ -202116,6 +237673,12 @@ thyroid hormonogenesis, genetic defect in, 6 thyroid dyshormonogenesis 6 + + + + TDH6 + + @@ -202140,6 +237703,12 @@ HNRNPR + + + + HNRNPR + + @@ -202159,6 +237728,12 @@ gses celiac disease, susceptibility to, 5 + + + + CELIAC5 + + @@ -202189,6 +237764,12 @@ pumilio, drosophila, homolog of, 1 PUM1 + + + + PUM1 + + @@ -202214,6 +237795,12 @@ ALOXE3 + + + + ALOXE3 + + @@ -202243,6 +237830,12 @@ stip1 homologous and u box-containing protein 1 STUB1 + + + + STUB1 + + @@ -202257,6 +237850,12 @@ severe myoclonic epilepsy of infancy dravet syndrome + + + + DRVT + + @@ -202282,6 +237881,12 @@ CARD10 + + + + CARD10 + + @@ -202318,6 +237923,12 @@ caspase recruitment domain-containing protein 11 CARD11 + + + + CARD11 + + @@ -202348,6 +237959,12 @@ caspase recruitment domain-containing protein 14 CARD14 + + + + CARD14 + + @@ -202371,6 +237988,12 @@ CARD9 + + + + CARD9 + + @@ -202396,6 +238019,12 @@ ORC6 + + + + ORC6 + + @@ -202435,6 +238064,12 @@ nephroretinin NPHP4 + + + + NPHP4 + + @@ -202463,6 +238098,12 @@ interferon regulatory factor 5 IRF5 + + + + IRF5 + + @@ -202480,6 +238121,12 @@ epps epilepsy, partial, with pericentral spikes + + + + PEPS + + @@ -202505,6 +238152,12 @@ SMOC2 + + + + SMOC2 + + @@ -202515,6 +238168,12 @@ spastic paralysis, infantile-onset ascending spastic paralysis, infantile-onset ascending + + + + IAHSP + + @@ -202547,6 +238206,12 @@ TMIE + + + + TMIE + + @@ -202564,6 +238229,12 @@ deafness, autosomal recessive 33 deafness, autosomal recessive 33 + + + + DFNB33 + + @@ -202587,6 +238258,12 @@ AP4S1 + + + + AP4S1 + + @@ -202615,6 +238292,12 @@ adaptor-related protein complex 4, epsilon-1 subunit AP4E1 + + + + AP4E1 + + @@ -202638,6 +238321,12 @@ AP4B1 + + + + AP4B1 + + @@ -202664,6 +238353,12 @@ AP3D1 + + + + AP3D1 + + @@ -202681,6 +238376,12 @@ glioma susceptibility 4 glioma susceptibility 4 + + + + GLM4 + + @@ -202704,6 +238405,12 @@ spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 + + + + SCAN1 + + @@ -202728,6 +238435,12 @@ TIMM22 + + + + TIMM22 + + @@ -202746,6 +238459,12 @@ apolipoprotein l2 APOL2 + + + + APOL2 + + @@ -202764,6 +238483,12 @@ apolipoprotein l4 APOL4 + + + + APOL4 + + @@ -202787,6 +238512,12 @@ SOX6 + + + + SOX6 + + @@ -202826,6 +238557,12 @@ spastic paraplegia 7, autosomal recessive spastic paraplegia 7, autosomal recessive + + + + SPG7 + + @@ -202855,6 +238592,12 @@ limbin EVC2 + + + + EVC2 + + @@ -202888,6 +238631,12 @@ AUTS2 + + + + AUTS2 + + @@ -202941,6 +238690,12 @@ folliculin FLCN + + + + FLCN + + @@ -202986,6 +238741,12 @@ tibia, bowing of, with pseudarthrosis and pectus excavatum osteofibrous dysplasia, susceptibility to + + + + OSFD + + @@ -203003,6 +238764,12 @@ systemic lupus erythematosus, hemolytic anemia-related systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 + + + + SLEH1 + + @@ -203028,6 +238795,12 @@ BLOC1S5 + + + + BLOC1S5 + + @@ -203057,6 +238830,12 @@ semaphorin B SEMA4A + + + + SEMA4A + + @@ -203080,6 +238859,12 @@ CLIC5 + + + + CLIC5 + + @@ -203103,6 +238888,12 @@ MYO18B + + + + MYO18B + + @@ -203129,6 +238920,12 @@ PRPF8 + + + + PRPF8 + + @@ -203155,6 +238952,12 @@ PRPF3 + + + + PRPF3 + + @@ -203182,6 +238985,12 @@ ccnp cataract 27 + + + + CTRCT27 + + @@ -203205,6 +239014,12 @@ SRD5A2 + + + + SRD5A2 + + @@ -203230,6 +239045,12 @@ FILIP1 + + + + FILIP1 + + @@ -203263,6 +239084,12 @@ progesterone receptor PGR + + + + PGR + + @@ -203289,6 +239116,12 @@ This term has one or more labels that end with ', INCLUDED'. gaze palsy, familial horizontal, with progressive scoliosis 1 + + + + HGPPS1 + + @@ -203312,6 +239145,12 @@ CABP2 + + + + CABP2 + + @@ -203345,6 +239184,12 @@ spinocerebellar ataxia, autosomal recessive 4 spinocerebellar ataxia, autosomal recessive 4 + + + + SCAR4 + + @@ -203368,6 +239213,12 @@ okihiro syndrome duane-radial ray syndrome + + + + DRRS + + @@ -203386,6 +239237,12 @@ postaxial polydactyly, type a3 polydactyly, postaxial, type a3 + + + + PAPA3 + + @@ -203398,6 +239255,12 @@ smith-mccort dysplasia 1 smith-mccort dysplasia 1 + + + + SMC1 + + @@ -203444,6 +239307,12 @@ sterol c5-desaturase deficiency lathosterolosis + + + + LATHOS + + @@ -203469,6 +239338,12 @@ RP9 + + + + RP9 + + @@ -203521,6 +239396,12 @@ gamma-aminobutyric acid B receptor 2 GABBR2 + + + + GABBR2 + + @@ -203542,6 +239423,12 @@ This term has one or more labels that end with ', INCLUDED'. focal cortical dysplasia, type 2 + + + + FCORD2 + + @@ -203571,6 +239458,12 @@ sal-like 4 SALL4 + + + + SALL4 + + @@ -203583,6 +239476,12 @@ spinocerebellar ataxia 22 spinocerebellar ataxia 19 + + + + SCA19 + + @@ -203608,6 +239507,12 @@ ALPK1 + + + + ALPK1 + + @@ -203633,6 +239538,12 @@ RHOBTB2 + + + + RHOBTB2 + + @@ -203649,6 +239560,12 @@ scoliosis, isolated, susceptibility to, 2 scoliosis, isolated, susceptibility to, 2 + + + + IS2 + + @@ -203673,6 +239590,12 @@ KCNQ5 + + + + KCNQ5 + + @@ -203696,6 +239619,12 @@ AIRE + + + + AIRE + + @@ -203708,6 +239637,12 @@ meckel-gruber syndrome, type 3 meckel syndrome, type 3 + + + + MKS3 + + @@ -203722,6 +239657,12 @@ This term has one or more labels that end with ', INCLUDED'. bartter syndrome, type 3 + + + + BARTS3 + + @@ -203747,6 +239688,12 @@ phospholipase a1, phosphatidic acid-selective, membrane-associated LIPH + + + + LIPH + + @@ -203758,6 +239705,12 @@ dystonia-deafness syndrome 1 dystonia-deafness syndrome 1 + + + + DDS1 + + @@ -203776,6 +239729,12 @@ auts2, formerly autism, susceptibility to, 8 + + + + AUTS8 + + @@ -203807,6 +239766,12 @@ schwannomin NF2 + + + + NF2 + + @@ -203833,6 +239798,12 @@ TRAF3IP1 + + + + TRAF3IP1 + + @@ -203857,6 +239828,12 @@ TIMM50 + + + + TIMM50 + + @@ -203894,6 +239871,12 @@ selective lim-binding factor, rat, homolog of IFT172 + + + + IFT172 + + @@ -203933,6 +239916,12 @@ parafibromin CDC73 + + + + CDC73 + + @@ -203968,6 +239957,12 @@ MC2R + + + + MC2R + + @@ -203992,6 +239987,12 @@ glucocorticoid deficiency 2 glucocorticoid deficiency 2 + + + + GCCD2 + + @@ -204016,6 +240017,12 @@ IFNL3 + + + + IFNL3 + + @@ -204042,6 +240049,12 @@ EBF3 + + + + EBF3 + + @@ -204065,6 +240078,12 @@ g72 DAOA + + + + DAOA + + @@ -204083,6 +240102,12 @@ pda patent ductus arteriosus 1 + + + + PDA1 + + @@ -204118,6 +240143,12 @@ mental retardation, autosomal recessive 2a intellectual developmental disorder, autosomal recessive 2 + + + + MRT2 + + @@ -204143,6 +240174,12 @@ NME8 + + + + NME8 + + @@ -204178,6 +240215,12 @@ rotated abdomen, drosophila, homolog of POMT1 + + + + POMT1 + + @@ -204193,6 +240236,12 @@ ubiquinone deficiency 1 coenzyme Q10 deficiency, primary, 1 + + + + COQ10D1 + + @@ -204218,6 +240267,12 @@ KIRREL1 + + + + KIRREL1 + + @@ -204246,6 +240301,12 @@ PDSS1 + + + + PDSS1 + + @@ -204262,6 +240323,12 @@ This term has one or more labels that end with ', INCLUDED'. lissencephaly 1 + + + + LIS1 + + @@ -204285,6 +240352,12 @@ GTPBP2 + + + + GTPBP2 + + @@ -204311,6 +240384,12 @@ ERAL1 + + + + ERAL1 + + @@ -204354,6 +240433,12 @@ protein o-mannosyltransferase 2 POMT2 + + + + POMT2 + + @@ -204395,6 +240480,12 @@ fukutin FKTN + + + + FKTN + + @@ -204424,6 +240515,12 @@ sbds ribosome maturation factor SBDS + + + + SBDS + + @@ -204440,6 +240537,12 @@ body mass index quantitative trait locus 3 body mass index quantitative trait locus 3 + + + + BMIQ3 + + @@ -204463,6 +240566,12 @@ obesity, susceptibility to body mass index quantitative trait locus 4 + + + + BMIQ4 + + @@ -204475,6 +240584,12 @@ arrhythmogenic right ventricular dysplasia, familial, 8 arrhythmogenic right ventricular dysplasia, familial, 8 + + + + ARVD8 + + @@ -204498,6 +240613,12 @@ deafness, autosomal dominant 44 deafness, autosomal dominant 44 + + + + DFNA44 + + @@ -204521,6 +240642,12 @@ spinocerebellar ataxia 21 spinocerebellar ataxia 21 + + + + SCA21 + + @@ -204560,6 +240687,12 @@ spinocerebellar ataxia 18 spinocerebellar ataxia 18 + + + + SCA18 + + @@ -204575,6 +240708,12 @@ This term has one or more labels that end with ', INCLUDED'. sensory ataxic neuropathy, dysarthria, and ophthalmoparesis + + + + SANDO + + @@ -204603,6 +240742,12 @@ dymeclin DYM + + + + DYM + + @@ -204632,6 +240777,12 @@ drpla gene ATN1 + + + + ATN1 + + @@ -204658,6 +240809,12 @@ PPP1R13L + + + + PPP1R13L + + @@ -204692,6 +240849,12 @@ CDAN1 + + + + CDAN1 + + @@ -204716,6 +240879,12 @@ GPR88 + + + + GPR88 + + @@ -204740,6 +240909,12 @@ BCAS3 + + + + BCAS3 + + @@ -204766,6 +240941,12 @@ YME1L1 + + + + YME1L1 + + @@ -204777,6 +240958,12 @@ vitamin k-dependent clotting factors, combined deficiency of, 2 vitamin k-dependent clotting factors, combined deficiency of, 2 + + + + VKCFD2 + + @@ -204801,6 +240988,12 @@ HGD + + + + HGD + + @@ -204821,6 +241014,12 @@ newfoundland rod-cone dystrophy newfoundland rod-cone dystrophy + + + + NFRCD + + @@ -204850,6 +241049,12 @@ tryptophan hydroxylase, neuronal TPH2 + + + + TPH2 + + @@ -204873,6 +241078,12 @@ APCDD1 + + + + APCDD1 + + @@ -204906,6 +241117,12 @@ MMAA + + + + MMAA + + @@ -204917,6 +241134,12 @@ cardiomyopathy, dilated, 1m cardiomyopathy, dilated, 1m + + + + CMD1M + + @@ -204944,6 +241167,12 @@ thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type) basal ganglia disease, biotin-thiamine responsive + + + + BBTGD + + @@ -204965,9 +241194,14 @@ frontotemporal lobar degeneration with tdp43 inclusions, grn-related frontotemporal lobar degeneration with ubiquitin-positive inclusions ftld-tdp, grn-related - This term has one or more labels that end with ', INCLUDED'. frontotemporal dementia 2 + + + + FTD2 + + @@ -204978,6 +241212,12 @@ knops blood group system knops blood group system + + + + KN + + @@ -204991,6 +241231,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, familial hypertrophic, 25 + + + + CMH25 + + @@ -205008,6 +241254,12 @@ dystonia 15, myoclonic dystonia 15, myoclonic + + + + DYT15 + + @@ -205032,6 +241284,12 @@ LDHD + + + + LDHD + + @@ -205057,6 +241315,12 @@ POFUT1 + + + + POFUT1 + + @@ -205080,6 +241344,12 @@ PACS1 + + + + PACS1 + + @@ -205124,6 +241394,12 @@ This term has one or more labels that end with ', INCLUDED'. bulimia nervosa, susceptibility to + + + + BULN + + @@ -205162,6 +241438,12 @@ headache associated with sexual activity headache associated with sexual activity + + + + HSA + + @@ -205213,6 +241495,12 @@ ADAMTS15 + + + + ADAMTS15 + + @@ -205236,6 +241524,12 @@ ADAMTS17 + + + + ADAMTS17 + + @@ -205259,6 +241553,12 @@ ADAMTS18 + + + + ADAMTS18 + + @@ -205282,6 +241582,12 @@ ADAMTS19 + + + + ADAMTS19 + + @@ -205305,6 +241611,12 @@ obesity, susceptibility to body mass index quantitative trait locus 10 + + + + BMIQ10 + + @@ -205352,6 +241664,12 @@ HPS5 + + + + HPS5 + + @@ -205377,6 +241695,12 @@ HPS6 + + + + HPS6 + + @@ -205389,6 +241713,12 @@ toenail dystrophy, isolated nail disorder, nonsyndromic congenital, 8 + + + + NDNC8 + + @@ -205412,6 +241742,12 @@ RPL27 + + + + RPL27 + + @@ -205437,6 +241773,12 @@ ROBO4 + + + + ROBO4 + + @@ -205463,6 +241805,12 @@ SARS1 + + + + SARS1 + + @@ -205487,6 +241835,12 @@ PIBF1 + + + + PIBF1 + + @@ -205510,6 +241864,12 @@ This term has one or more labels that end with ', INCLUDED'. CRTC1 + + + + CRTC1 + + @@ -205531,6 +241891,12 @@ This term has one or more labels that end with ', INCLUDED'. MAML2 + + + + MAML2 + + @@ -205542,6 +241908,12 @@ camptosynpolydactyly, complex camptosynpolydactyly, complex + + + + CCSPD + + @@ -205565,6 +241937,12 @@ granular corneal dystrophy, type 2 corneal dystrophy, avellino type + + + + CDA + + @@ -205608,6 +241986,12 @@ potassium channel, voltage-gated, shaker-related subfamily, member 9 KCNQ1 + + + + KCNQ1 + + @@ -205642,6 +242026,12 @@ LRPPRC + + + + LRPPRC + + @@ -205667,6 +242057,12 @@ MSMO1 + + + + MSMO1 + + @@ -205687,6 +242083,12 @@ atrial fibrillation, familial, 3 atrial fibrillation, familial, 3 + + + + ATFB3 + + @@ -205723,6 +242125,12 @@ twist, drosophila, homolog of, 2 TWIST2 + + + + TWIST2 + + @@ -205748,6 +242156,12 @@ SLC17A8 + + + + SLC17A8 + + @@ -205773,6 +242187,12 @@ ARHGEF2 + + + + ARHGEF2 + + @@ -205810,6 +242230,12 @@ interleukin 23 receptor IL23R + + + + IL23R + + @@ -205847,6 +242273,12 @@ EPM2A + + + + EPM2A + + @@ -205872,6 +242304,12 @@ MMAB + + + + MMAB + + @@ -205905,6 +242343,12 @@ SLC25A21 + + + + SLC25A21 + + @@ -205921,6 +242365,12 @@ leprosy, susceptibility to, 2 leprosy, susceptibility to, 2 + + + + LPRS2 + + @@ -205946,6 +242396,12 @@ ARSA + + + + ARSA + + @@ -205975,6 +242431,12 @@ cat eye syndrome chromosome region, candidate 1 ADA2 + + + + ADA2 + + @@ -206002,6 +242464,12 @@ spastic paraplegia 24, autosomal recessive spastic paraplegia 24, autosomal recessive + + + + SPG24 + + @@ -206031,6 +242499,12 @@ atm serine/threonine kinase ATM + + + + ATM + + @@ -206055,6 +242529,12 @@ BBS7 + + + + BBS7 + + @@ -206097,6 +242577,12 @@ This term has one or more labels that end with ', INCLUDED'. immunodeficiency, common variable, 1 + + + + CVID1 + + @@ -206120,6 +242606,12 @@ pontocerebellar hypoplasia, type 1a pontocerebellar hypoplasia, type 1a + + + + PCH1A + + @@ -206141,6 +242633,12 @@ multiple contracture syndrome, israeli bedouin type a lethal congenital contracture syndrome 2 + + + + LCCS2 + + @@ -206151,6 +242649,12 @@ epidermolysis bullosa simplex superficialis epidermolysis bullosa simplex superficialis + + + + EBSS + + @@ -206175,6 +242679,12 @@ TICAM1 + + + + TICAM1 + + @@ -206188,6 +242698,12 @@ ichthyosis, cyclic, with epidermolytic hyperkeratosis ichthyosis, annular epidermolytic, 1 + + + + AEI1 + + @@ -206212,6 +242728,12 @@ KCNV2 + + + + KCNV2 + + @@ -206237,6 +242759,12 @@ KRT9 + + + + KRT9 + + @@ -206260,6 +242788,12 @@ NUP54 + + + + NUP54 + + @@ -206289,6 +242823,12 @@ sphingomyelinase, acid SMPD1 + + + + SMPD1 + + @@ -206317,6 +242857,12 @@ nucleoporin, 133-kd NUP133 + + + + NUP133 + + @@ -206342,6 +242888,12 @@ NUP160 + + + + NUP160 + + @@ -206392,6 +242944,12 @@ nup84, yeast, homolog of NUP107 + + + + NUP107 + + @@ -206416,6 +242974,12 @@ COLEC10 + + + + COLEC10 + + @@ -206441,6 +243005,12 @@ PMVK + + + + PMVK + + @@ -206464,6 +243034,12 @@ npc1 gene NPC1 + + + + NPC1 + + @@ -206490,6 +243066,12 @@ partial albinism and immunodeficiency syndrome griscelli syndrome, type 2 + + + + GS2 + + @@ -206512,6 +243094,12 @@ niemann-pick disease, type c2 niemann-pick disease, type c2 + + + + NPC2 + + @@ -206537,6 +243125,12 @@ nisch syndrome ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis + + + + ILVASC + + @@ -206553,6 +243147,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized, susceptibility to, 11 + + + + EIG11 + + @@ -206565,6 +243165,12 @@ jae1 epilepsy, juvenile absence, susceptibility to, 1 + + + + EJA1 + + @@ -206590,6 +243196,12 @@ PSENEN + + + + PSENEN + + @@ -206615,6 +243227,12 @@ XDH + + + + XDH + + @@ -206627,6 +243245,12 @@ osteopetrosis, autosomal dominant, type 1 osteopetrosis, autosomal dominant 1 + + + + OPTA1 + + @@ -206659,6 +243283,12 @@ ATXN7 + + + + ATXN7 + + @@ -206676,6 +243306,12 @@ neuropathy, distal hereditary motor, with vocal cord paralysis, harding type 7b neuronopathy, distal hereditary motor, autosomal dominant 14 + + + + HMND14 + + @@ -206700,6 +243336,12 @@ RAI1 + + + + RAI1 + + @@ -206725,6 +243367,12 @@ FSCN2 + + + + FSCN2 + + @@ -206744,6 +243392,12 @@ fcnc candidiasis, familial, 3 + + + + CANDF3 + + @@ -206768,6 +243422,12 @@ PLVAP + + + + PLVAP + + @@ -206792,6 +243452,12 @@ OSTM1 + + + + OSTM1 + + @@ -206817,6 +243483,12 @@ STK36 + + + + STK36 + + @@ -206829,6 +243501,12 @@ striate palmoplantar keratoderma 3 keratosis palmoplantaris striata 3 + + + + PPKS3 + + @@ -206872,6 +243550,12 @@ CTH + + + + CTH + + @@ -206914,6 +243598,12 @@ GNS + + + + GNS + + @@ -206926,6 +243616,12 @@ This term has one or more labels that end with ', INCLUDED'. tubulointerstitial nephritis with uveitis + + + + TINU + + @@ -206951,6 +243647,12 @@ CTNNA3 + + + + CTNNA3 + + @@ -206976,6 +243678,12 @@ ARL6IP1 + + + + ARL6IP1 + + @@ -206999,6 +243707,12 @@ STK33 + + + + STK33 + + @@ -207016,6 +243730,12 @@ dystonia 13, torsion, autosomal dominant dystonia 13, torsion, autosomal dominant + + + + DYT13 + + @@ -207041,6 +243761,12 @@ CLCF1 + + + + CLCF1 + + @@ -207077,6 +243803,12 @@ This term has one or more labels that end with ', INCLUDED'. immunodeficiency 67 + + + + IMD67 + + @@ -207089,6 +243821,12 @@ charcot-marie-tooth neuropathy, type 2i charcot-marie-tooth disease, axonal, type 2i + + + + CMT2I + + @@ -207104,6 +243842,12 @@ hmsn1d charcot-marie-tooth disease, demyelinating, type 1d + + + + CMT1D + + @@ -207121,6 +243865,12 @@ This term has one or more labels that end with ', INCLUDED'. febrile seizures, familial, 8 + + + + FEB8 + + @@ -207135,6 +243885,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized, susceptibility to, 9 + + + + EIG9 + + @@ -207156,6 +243912,12 @@ charcot-marie-tooth neuropathy, type 2e charcot-marie-tooth disease, axonal, type 2e + + + + CMT2E + + @@ -207166,6 +243928,12 @@ hypereosinophilic syndrome, idiopathic hypereosinophilic syndrome, idiopathic + + + + HES + + @@ -207205,6 +243973,12 @@ parkinson disease 11, autosomal dominant, susceptibility to parkinson disease 11, autosomal dominant, susceptibility to + + + + PARK11 + + @@ -207239,6 +244013,12 @@ SAR1B + + + + SAR1B + + @@ -207273,6 +244053,12 @@ SECISBP2 + + + + SECISBP2 + + @@ -207289,6 +244075,12 @@ leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism + + + + HLD7 + + @@ -207314,6 +244106,12 @@ USH1G + + + + USH1G + + @@ -207339,6 +244137,12 @@ SBF2 + + + + SBF2 + + @@ -207364,6 +244168,12 @@ KLHL41 + + + + KLHL41 + + @@ -207390,6 +244200,12 @@ KANK1 + + + + KANK1 + + @@ -207426,6 +244242,12 @@ CAMK2B + + + + CAMK2B + + @@ -207455,6 +244277,12 @@ zona occludens 2 TJP2 + + + + TJP2 + + @@ -207482,6 +244310,12 @@ tosti syndrome noonan syndrome-like disorder with loose anagen hair 1 + + + + NSLH1 + + @@ -207500,6 +244334,12 @@ porokeratosis, disseminated superficial actinic, 2 porokeratosis 4, disseminated superficial actinic type + + + + POROK4 + + @@ -207519,6 +244359,12 @@ charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive charcot-marie-tooth disease, axonal, type 2h + + + + CMT2H + + @@ -207531,6 +244377,12 @@ charcot-marie-tooth neuropathy, type 1f charcot-marie-tooth disease, demyelinating, type 1f + + + + CMT1F + + @@ -207544,6 +244396,12 @@ charcot-marie-tooth neuropathy, type 2j charcot-marie-tooth disease, axonal, type 2j + + + + CMT2J + + @@ -207566,6 +244424,12 @@ seizures, benign familial neonatal-infantile seizures, benign familial infantile, 3 + + + + BFIS3 + + @@ -207578,6 +244442,12 @@ hypercholanemia, familial 1 hypercholanemia, familial 1 + + + + FHCA1 + + @@ -207604,6 +244474,12 @@ TAS2R38 + + + + TAS2R38 + + @@ -207629,6 +244505,12 @@ CCNO + + + + CCNO + + @@ -207663,6 +244545,12 @@ This term has one or more labels that end with ', INCLUDED'. ITGA2B + + + + ITGA2B + + @@ -207687,6 +244575,12 @@ HSD3B7 + + + + HSD3B7 + + @@ -207711,6 +244605,12 @@ bile acid synthesis defect, congenital, 1 bile acid synthesis defect, congenital, 1 + + + + CBAS1 + + @@ -207735,6 +244635,12 @@ SIN3A + + + + SIN3A + + @@ -207745,6 +244651,12 @@ acrocapitofemoral dysplasia acrocapitofemoral dysplasia + + + + ACFD + + @@ -207774,6 +244686,12 @@ MESD + + + + MESD + + @@ -207799,6 +244717,12 @@ This term has one or more labels that end with ', INCLUDED'. juvenile myelomonocytic leukemia + + + + JMML + + @@ -207822,6 +244746,12 @@ proprotein convertase, subtilisin/kexin-type, 9 PCSK9 + + + + PCSK9 + + @@ -207845,6 +244775,12 @@ MCFD2 + + + + MCFD2 + + @@ -207858,6 +244794,12 @@ di-cmtd charcot-marie-tooth disease, dominant intermediate d + + + + CMTDID + + @@ -207883,6 +244825,12 @@ PRPF4 + + + + PRPF4 + + @@ -207911,6 +244859,12 @@ atp-binding cassette, subfamily a, member 12 ABCA12 + + + + ABCA12 + + @@ -207949,6 +244903,12 @@ cyclin m2 CNNM2 + + + + CNNM2 + + @@ -207974,6 +244934,12 @@ CNNM4 + + + + CNNM4 + + @@ -208001,6 +244967,12 @@ ACAT1 + + + + ACAT1 + + @@ -208024,6 +244996,12 @@ craniolenticulosutural dysplasia craniolenticulosutural dysplasia + + + + CLSD + + @@ -208049,6 +245027,12 @@ RGS9BP + + + + RGS9BP + + @@ -208075,6 +245059,12 @@ VPS13B + + + + VPS13B + + @@ -208102,6 +245092,12 @@ ZNF365 + + + + ZNF365 + + @@ -208113,6 +245109,12 @@ deafness, autosomal recessive 37 deafness, autosomal recessive 37 + + + + DFNB37 + + @@ -208128,6 +245130,12 @@ This term has one or more labels that end with ', INCLUDED'. alzheimer disease 3 + + + + AD3 + + @@ -208138,6 +245146,12 @@ hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia syndrome + + + + HLTS + + @@ -208151,6 +245165,12 @@ myxomatous mitral valve prolapse 2 mitral valve prolapse 2 + + + + MVP2 + + @@ -208176,6 +245196,12 @@ FRAS1 + + + + FRAS1 + + @@ -208203,6 +245229,12 @@ This term has one or more labels that end with ', INCLUDED'. charcot-marie-tooth disease, axonal, type 2k + + + + CMT2K + + @@ -208227,6 +245259,12 @@ glomerulosclerosis, focal segmental, 3, susceptibility to focal segmental glomerulosclerosis 3, susceptibility to + + + + FSGS3 + + @@ -208262,6 +245300,12 @@ vitiligo-associated multiple autoimmune disease susceptibility 2 autoimmune disease, susceptibility to, 1 + + + + AIS1 + + @@ -208291,6 +245335,12 @@ cln8 transmembrane er and ergic protein CLN8 + + + + CLN8 + + @@ -208315,6 +245365,12 @@ GNPTG + + + + GNPTG + + @@ -208347,6 +245403,12 @@ glycogen branching enzyme GBE1 + + + + GBE1 + + @@ -208377,6 +245439,12 @@ n-acetylglucosamine-1-phosphotransferase, alpha/beta subunits GNPTAB + + + + GNPTAB + + @@ -208394,6 +245462,12 @@ deafness, autosomal dominant 48 deafness, autosomal dominant 48 + + + + DFNA48 + + @@ -208417,6 +245491,12 @@ aural atresia, congenital, with hyposmia aural atresia, congenital + + + + CAA + + @@ -208441,6 +245521,12 @@ PKHD1L1 + + + + PKHD1L1 + + @@ -208465,6 +245551,12 @@ man antigen 1 LEMD3 + + + + LEMD3 + + @@ -208501,6 +245593,12 @@ RDH11 + + + + RDH11 + + @@ -208512,6 +245610,12 @@ osteoarthritis susceptibility 3 osteoarthritis susceptibility 3 + + + + OS3 + + @@ -208530,6 +245634,12 @@ panic disorder susceptibility locus, chromosome 9q-related panic disorder 2 + + + + PAND2 + + @@ -208572,6 +245682,12 @@ vmd2 gene BEST1 + + + + BEST1 + + @@ -208585,6 +245701,12 @@ This term has one or more labels that end with ', INCLUDED'. muscular dystrophy, congenital merosin-deficient, 1a + + + + MDC1A + + @@ -208602,6 +245724,12 @@ psoriasis 9, susceptibility to psoriasis 9, susceptibility to + + + + PSORS9 + + @@ -208637,6 +245765,12 @@ YY1AP1 + + + + YY1AP1 + + @@ -208663,6 +245797,12 @@ DACT1 + + + + DACT1 + + @@ -208697,6 +245837,12 @@ RCBTB1 + + + + RCBTB1 + + @@ -208723,6 +245869,12 @@ FBXO11 + + + + FBXO11 + + @@ -208763,6 +245915,12 @@ INPP5K + + + + INPP5K + + @@ -208789,6 +245947,12 @@ epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic, 2 + + + + FAME2 + + @@ -208812,6 +245976,12 @@ NNT + + + + NNT + + @@ -208837,6 +246007,12 @@ EXOC6B + + + + EXOC6B + + @@ -208867,6 +246043,12 @@ SLC52A2 + + + + SLC52A2 + + @@ -208896,6 +246078,12 @@ SLC52A1 + + + + SLC52A1 + + @@ -208919,6 +246107,12 @@ DSG4 + + + + DSG4 + + @@ -208935,6 +246129,12 @@ ovarian cancer, susceptibility to, 1 ovarian cancer, susceptibility to, 1 + + + + OVCAS1 + + @@ -208962,6 +246162,12 @@ FERMT1 + + + + FERMT1 + + @@ -208989,6 +246195,12 @@ FERMT3 + + + + FERMT3 + + @@ -209013,6 +246225,12 @@ SNUPN + + + + SNUPN + + @@ -209040,6 +246258,12 @@ monilethrix-like hypotrichosis hypotrichosis 6 + + + + HYPT6 + + @@ -209068,6 +246292,12 @@ calcium channel, voltage-dependent, t type, alpha-1h subunit CACNA1H + + + + CACNA1H + + @@ -209097,6 +246327,12 @@ alg2, s. cerevisiae, homolog of ALG2 + + + + ALG2 + + @@ -209109,6 +246345,12 @@ congenital disorder of glycosylation, type ii congenital disorder of glycosylation, type ii + + + + CDG1I + + @@ -209120,6 +246362,12 @@ giant cell fibroblastoma dermatofibrosarcoma protuberans + + + + DFSP + + @@ -209145,6 +246393,12 @@ LIMS2 + + + + LIMS2 + + @@ -209170,6 +246424,12 @@ SELENOI + + + + SELENOI + + @@ -209204,6 +246464,12 @@ This term has one or more labels that end with ', INCLUDED'. retinitis pigmentosa 30 + + + + RP30 + + @@ -209230,6 +246496,12 @@ p(k) antigen synthase A4GALT + + + + A4GALT + + @@ -209260,6 +246532,12 @@ whirlin WHRN + + + + WHRN + + @@ -209288,6 +246566,12 @@ CCM2 + + + + CCM2 + + @@ -209302,6 +246586,12 @@ microphthalmia, syndromic 6 microphthalmia, syndromic 6 + + + + MCOPS6 + + @@ -209327,6 +246617,12 @@ peeling skin syndrome 4 peeling skin syndrome 4 + + + + PSS4 + + @@ -209352,6 +246648,12 @@ SUMF1 + + + + SUMF1 + + @@ -209363,6 +246665,12 @@ atrial septal defect 2 atrial septal defect 2 + + + + ASD2 + + @@ -209389,6 +246697,12 @@ spondyloenchondrodysplasia with immune dysregulation spondyloenchondrodysplasia with immune dysregulation + + + + SPENCDI + + @@ -209443,6 +246757,12 @@ CEP57 + + + + CEP57 + + @@ -209473,6 +246793,12 @@ sterile alpha motif- and sh3 domain-containing protein 1 SASH1 + + + + SASH1 + + @@ -209504,6 +246830,12 @@ semaphorin k1 SEMA7A + + + + SEMA7A + + @@ -209520,6 +246852,12 @@ systemic lupus erythematosus with nephritis, susceptibility to, 1 systemic lupus erythematosus with nephritis, susceptibility to, 1 + + + + SLEN1 + + @@ -209536,6 +246874,12 @@ systemic lupus erythematosus with nephritis, susceptibility to, 2 systemic lupus erythematosus with nephritis, susceptibility to, 2 + + + + SLEN2 + + @@ -209552,6 +246896,12 @@ systemic lupus erythematosus with nephritis, susceptibility to, 3 systemic lupus erythematosus with nephritis, susceptibility to, 3 + + + + SLEN3 + + @@ -209602,6 +246952,12 @@ COX4I2 + + + + COX4I2 + + @@ -209627,6 +246983,12 @@ TOMM7 + + + + TOMM7 + + @@ -209652,6 +247014,12 @@ SCYL1 + + + + SCYL1 + + @@ -209677,6 +247045,12 @@ GORAB + + + + GORAB + + @@ -209701,6 +247075,12 @@ SPRY4 + + + + SPRY4 + + @@ -209731,6 +247111,12 @@ tripeptidyl peptidase 1 TPP1 + + + + TPP1 + + @@ -209758,6 +247144,12 @@ ASH1L + + + + ASH1L + + @@ -209783,6 +247175,12 @@ NAA15 + + + + NAA15 + + @@ -209825,6 +247223,12 @@ nephrocystin 3 NPHP3 + + + + NPHP3 + + @@ -209850,6 +247254,12 @@ SIL1 + + + + SIL1 + + @@ -209874,6 +247284,12 @@ LMOD2 + + + + LMOD2 + + @@ -209897,6 +247313,12 @@ npc1-like intracellular cholesterol transporter 1 NPC1L1 + + + + NPC1L1 + + @@ -209939,6 +247361,12 @@ protein kinase h11 HSPB8 + + + + HSPB8 + + @@ -209991,6 +247419,12 @@ neuroblastoma-amplified sequence NBAS + + + + NBAS + + @@ -210007,6 +247441,12 @@ hypertensive nephropathy hypertensive nephropathy + + + + HNP1 + + @@ -210032,6 +247472,12 @@ pontocerebellar hypoplasia, type 3 pontocerebellar hypoplasia, type 3 + + + + PCH3 + + @@ -210060,6 +247506,12 @@ spinocerebellar ataxia, autosomal recessive 6 spinocerebellar ataxia, autosomal recessive 6 + + + + SCAR6 + + @@ -210071,6 +247523,12 @@ amyotrophic lateral sclerosis 6 with or without frontotemporal dementia amyotrophic lateral sclerosis 6 with or without frontotemporal dementia + + + + ALS6 + + @@ -210088,6 +247546,12 @@ amyotrophic lateral sclerosis 7 amyotrophic lateral sclerosis 7 + + + + ALS7 + + @@ -210121,6 +247585,12 @@ encephalopathy, acute, infection-induced, susceptibility to, 3 encephalopathy, acute, infection-induced, susceptibility to, 3 + + + + IIAE3 + + @@ -210145,6 +247615,12 @@ ASPA + + + + ASPA + + @@ -210162,6 +247638,12 @@ melanoma, cutaneous malignant, susceptibility to, 4 melanoma, cutaneous malignant, susceptibility to, 4 + + + + CMM4 + + @@ -210186,6 +247668,12 @@ type 2 diabetes mellitus 4 type 2 diabetes mellitus 4 + + + + T2D4 + + @@ -210223,6 +247711,12 @@ intraflagellar transport 74, chlamydomonas, homolog of IFT74 + + + + IFT74 + + @@ -210247,6 +247741,12 @@ ANTXR2 + + + + ANTXR2 + + @@ -210280,6 +247780,12 @@ UBE3B + + + + UBE3B + + @@ -210297,6 +247803,12 @@ autism, susceptibility to, 3 autism, susceptibility to, 3 + + + + AUTS3 + + @@ -210308,6 +247820,12 @@ macular dystrophy, retinal, 2 macular dystrophy, retinal, 2 + + + + MCDR2 + + @@ -210331,6 +247849,12 @@ ETFA + + + + ETFA + + @@ -210364,6 +247888,12 @@ HES7 + + + + HES7 + + @@ -210386,6 +247916,12 @@ sweet syndrome neutrophilic dermatosis, acute febrile + + + + AFND + + @@ -210411,6 +247947,12 @@ NHLRC1 + + + + NHLRC1 + + @@ -210438,6 +247980,12 @@ PDCD6IP + + + + PDCD6IP + + @@ -210461,6 +248009,12 @@ PLCZ1 + + + + PLCZ1 + + @@ -210507,6 +248061,12 @@ APOC2 + + + + APOC2 + + @@ -210533,6 +248093,12 @@ GIMAP5 + + + + GIMAP5 + + @@ -210572,6 +248138,12 @@ joubert syndrome 2 joubert syndrome 2 + + + + JBTS2 + + @@ -210597,6 +248169,12 @@ PALLD + + + + PALLD + + @@ -210609,6 +248187,12 @@ congenital disorder of glycosylation, type ij congenital disorder of glycosylation, type ij + + + + CDG1J + + @@ -210633,6 +248217,12 @@ SCNM1 + + + + SCNM1 + + @@ -210651,6 +248241,12 @@ ftle epilepsy, familial temporal lobe, 2 + + + + ETL2 + + @@ -210676,6 +248272,12 @@ periventricular nodular heterotopia 2 periventricular heterotopia with microcephaly, autosomal recessive + + + + ARPHM + + @@ -210694,6 +248296,12 @@ periventricular nodular heterotopia 3 periventricular nodular heterotopia 3 + + + + PVNH3 + + @@ -210720,6 +248328,12 @@ muscular dystrophy, limb-girdle, type 2d muscular dystrophy, limb-girdle, autosomal recessive 3 + + + + LGMDR3 + + @@ -210734,18 +248348,29 @@ - + + + + + + + NFU1 hira-interacting protein 5 iron-sulfur cluster scaffold protein nfu1 nfu1 iron-sulfur cluster scaffold nfu1, s. cerevisiae, homolog of NFU1 - + + + + NFU1 + + @@ -210770,6 +248395,12 @@ CLN5 + + + + CLN5 + + @@ -210800,6 +248431,12 @@ dolichyl-p-glucose:glc-1-man-9-glcnac-2-pp-dolichyl-alpha-3-glucosyltransferase ALG8 + + + + ALG8 + + @@ -210812,6 +248449,12 @@ congenital disorder of glycosylation, type ih congenital disorder of glycosylation, type ih + + + + CDG1H + + @@ -210823,6 +248466,12 @@ re-ped-wc epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp + + + + EPRPDC + + @@ -210847,6 +248496,12 @@ immunodeficiency with hyper-igm, type 5 immunodeficiency with hyper-igm, type 5 + + + + HIGM5 + + @@ -210884,6 +248539,12 @@ pyrin MEFV + + + + MEFV + + @@ -210907,6 +248568,12 @@ PUS1 + + + + PUS1 + + @@ -210932,6 +248599,12 @@ FANCL + + + + FANCL + + @@ -210958,6 +248631,12 @@ TRAK1 + + + + TRAK1 + + @@ -210969,6 +248648,12 @@ ovarian hyperstimulation syndrome, familial gestational spontaneous ovarian hyperstimulation syndrome + + + + OHSS + + @@ -210994,6 +248679,12 @@ This term has one or more labels that end with ', INCLUDED'. zinc deficiency, transient neonatal + + + + TNZD + + @@ -211024,6 +248715,12 @@ xylosyltransferase 1 XYLT1 + + + + XYLT1 + + @@ -211054,6 +248751,12 @@ xylosyltransferase 2 XYLT2 + + + + XYLT2 + + @@ -211086,6 +248789,12 @@ NUAK2 + + + + NUAK2 + + @@ -211115,6 +248824,12 @@ tetratricopeptide repeat domain-containing protein 8 TTC8 + + + + TTC8 + + @@ -211142,6 +248857,12 @@ This term has one or more labels that end with ', INCLUDED'. retinitis pigmentosa 7 + + + + RP7 + + @@ -211171,6 +248892,12 @@ periodontal ligament-associated protein 1 ASPN + + + + ASPN + + @@ -211195,6 +248922,12 @@ ARHGEF10 + + + + ARHGEF10 + + @@ -211220,6 +248953,12 @@ NSMF + + + + NSMF + + @@ -211245,6 +248984,12 @@ HSCB + + + + HSCB + + @@ -211269,6 +249014,12 @@ NIPA1 + + + + NIPA1 + + @@ -211293,6 +249044,12 @@ SATB2 + + + + SATB2 + + @@ -211356,6 +249113,12 @@ wd repeat-containing protein 19 WDR19 + + + + WDR19 + + @@ -211383,6 +249146,12 @@ nablus mask-like facial syndrome nablus mask-like facial syndrome + + + + NMLFS + + @@ -211421,6 +249190,12 @@ This term has one or more labels that end with ', INCLUDED'. SOX9 + + + + SOX9 + + @@ -211435,6 +249210,12 @@ vitelliform macular dystrophy, adult-onset macular dystrophy, vitelliform, 3 + + + + VMD3 + + @@ -211460,6 +249241,12 @@ EXOC7 + + + + EXOC7 + + @@ -211490,6 +249277,12 @@ slack KCNT1 + + + + KCNT1 + + @@ -211515,6 +249308,12 @@ DDX41 + + + + DDX41 + + @@ -211538,6 +249337,12 @@ CACNA2D4 + + + + CACNA2D4 + + @@ -211569,6 +249374,12 @@ hds DHDDS + + + + DHDDS + + @@ -211623,6 +249434,12 @@ autoimmune thyroid disease, susceptibility to, 3 autoimmune thyroid disease, susceptibility to, 3 + + + + AITD3 + + @@ -211669,6 +249486,12 @@ ext EXT1 + + + + EXT1 + + @@ -211694,6 +249517,12 @@ ATCAY + + + + ATCAY + + @@ -211705,6 +249534,12 @@ synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses synpolydactyly 2 + + + + SPD2 + + @@ -211730,6 +249565,12 @@ ACP33 + + + + ACP33 + + @@ -211756,6 +249597,12 @@ CHSY1 + + + + CHSY1 + + @@ -211768,6 +249615,12 @@ immunodeficiency with hyper-igm, type 4 immunodeficiency with hyper-igm, type 4 + + + + HIGM4 + + @@ -211791,6 +249644,12 @@ MCM8 + + + + MCM8 + + @@ -211816,6 +249675,12 @@ CRLS1 + + + + CRLS1 + + @@ -211837,6 +249702,12 @@ cone-rod dystrophy 13 cone-rod dystrophy 13 + + + + CORD13 + + @@ -211862,6 +249733,12 @@ CDK5RAP2 + + + + CDK5RAP2 + + @@ -211874,6 +249751,12 @@ neutrophil immunodeficiency syndrome immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis + + + + IMD73A + + @@ -211898,6 +249781,12 @@ UNC93B1 + + + + UNC93B1 + + @@ -211929,6 +249818,12 @@ trans-2-enoyl-coa reductase, mitochondrial MECR + + + + MECR + + @@ -211958,6 +249853,12 @@ sh3 domain and tetratricopeptide repeat domain 2 SH3TC2 + + + + SH3TC2 + + @@ -211976,6 +249877,12 @@ leishmaniasis, visceral, susceptibility to, 1 kala-azar, susceptibility to, 1 + + + + KAZA1 + + @@ -212005,6 +249912,12 @@ exostosin glycosyltransferase 2 EXT2 + + + + EXT2 + + @@ -212036,6 +249949,12 @@ lrg47, mouse, homolog of IRGM + + + + IRGM + + @@ -212060,6 +249979,12 @@ sodium voltage-gated channel, beta subunit 3 SCN3B + + + + SCN3B + + @@ -212072,6 +249997,12 @@ seizures, benign familial neonatal, 3 seizures, benign familial neonatal, 3 + + + + BFNS3 + + @@ -212089,6 +250020,12 @@ deafness, autosomal recessive 38 deafness, autosomal recessive 38 + + + + DFNB38 + + @@ -212107,6 +250044,12 @@ spastic paraplegia 25, autosomal recessive spastic paraplegia 25, autosomal recessive + + + + SPG25 + + @@ -212131,6 +250074,12 @@ ADSL + + + + ADSL + + @@ -212165,6 +250114,12 @@ deafness, autosomal dominant 41 deafness, autosomal dominant 41 + + + + DFNA41 + + @@ -212190,6 +250145,12 @@ NANOS1 + + + + NANOS1 + + @@ -212223,6 +250184,12 @@ CACNA1I + + + + CACNA1I + + @@ -212237,6 +250204,12 @@ This term has one or more labels that end with ', INCLUDED'. leukemia, chronic myeloid + + + + CML + + @@ -212260,6 +250233,12 @@ hermansky-pudlak syndrome 2 hermansky-pudlak syndrome 2 + + + + HPS2 + + @@ -212282,6 +250261,12 @@ slowed nerve conduction velocity, autosomal dominant slowed nerve conduction velocity, autosomal dominant + + + + SNCV + + @@ -212307,6 +250292,12 @@ SPPL2A + + + + SPPL2A + + @@ -212330,6 +250321,12 @@ SNIP1 + + + + SNIP1 + + @@ -212357,6 +250354,12 @@ NSMCE3 + + + + NSMCE3 + + @@ -212374,6 +250377,12 @@ otosclerosis 3 otosclerosis 3 + + + + OTSC3 + + @@ -212401,6 +250410,12 @@ KRT71 + + + + KRT71 + + @@ -212439,6 +250454,12 @@ keratin 74, type 2 KRT74 + + + + KRT74 + + @@ -212478,6 +250499,12 @@ sodium voltage-gated channel, beta subunit 4 SCN4B + + + + SCN4B + + @@ -212511,6 +250538,12 @@ DPP9 + + + + DPP9 + + @@ -212528,6 +250561,12 @@ deafness, autosomal recessive 40 deafness, autosomal recessive 40 + + + + DFNB40 + + @@ -212551,6 +250590,12 @@ deafness, autosomal recessive 39 deafness, autosomal recessive 39 + + + + DFNB39 + + @@ -212585,6 +250630,12 @@ RRAGC + + + + RRAGC + + @@ -212609,6 +250660,12 @@ RRAGD + + + + RRAGD + + @@ -212634,6 +250691,12 @@ TASP1 + + + + TASP1 + + @@ -212661,6 +250724,12 @@ MACF1 + + + + MACF1 + + @@ -212685,6 +250754,12 @@ sialidase, lysosomal NEU1 + + + + NEU1 + + @@ -212737,6 +250812,12 @@ kinesin family member 21a KIF21A + + + + KIF21A + + @@ -212760,6 +250841,12 @@ NADSYN1 + + + + NADSYN1 + + @@ -212784,6 +250871,12 @@ IGF2BP2 + + + + IGF2BP2 + + @@ -212817,6 +250910,12 @@ FIBP + + + + FIBP + + @@ -212850,6 +250949,12 @@ NAGS + + + + NAGS + + @@ -212873,6 +250978,12 @@ LGI3 + + + + LGI3 + + @@ -212896,6 +251007,12 @@ LGI4 + + + + LGI4 + + @@ -212920,6 +251037,12 @@ SLC13A5 + + + + SLC13A5 + + @@ -212948,6 +251071,12 @@ carbamoyl phosphate synthetase 1 CPS1 + + + + CPS1 + + @@ -212972,6 +251101,12 @@ PINK1 + + + + PINK1 + + @@ -212996,6 +251131,12 @@ ASL + + + + ASL + + @@ -213020,6 +251161,12 @@ ARG1 + + + + ARG1 + + @@ -213064,6 +251211,12 @@ GRHL3 + + + + GRHL3 + + @@ -213111,6 +251264,12 @@ coronary artery disease, autosomal dominant, 1 coronary artery disease, autosomal dominant, 1 + + + + ADCAD1 + + @@ -213124,6 +251283,12 @@ di-cmtc charcot-marie-tooth disease, dominant intermediate c + + + + CMTDIC + + @@ -213149,6 +251314,12 @@ PHF21A + + + + PHF21A + + @@ -213164,6 +251335,12 @@ weill-marchesani syndrome, autosomal dominant weill-marchesani syndrome 2 + + + + WMS2 + + @@ -213195,6 +251372,12 @@ myelin regulatory factor MYRF + + + + MYRF + + @@ -213225,6 +251408,12 @@ tramdorin 1 SLC36A2 + + + + SLC36A2 + + @@ -213238,6 +251427,12 @@ ri-cmta charcot-marie-tooth disease, recessive intermediate a + + + + CMTRIA + + @@ -213255,6 +251450,12 @@ nystagmus 3, congenital, autosomal dominant nystagmus 3, congenital, autosomal dominant + + + + NYS3 + + @@ -213292,6 +251493,12 @@ DCXR + + + + DCXR + + @@ -213316,6 +251523,12 @@ BCKDHA + + + + BCKDHA + + @@ -213328,6 +251541,12 @@ capillary malformation-arteriovenous malformation 1 capillary malformation-arteriovenous malformation 1 + + + + CMAVM1 + + @@ -213354,6 +251573,12 @@ scapuloperoneal syndrome, myopathic type congenital myopathy 7a, myosin storage, autosomal dominant + + + + CMYO7A + + @@ -213380,6 +251605,12 @@ LRRC8A + + + + LRRC8A + + @@ -213390,6 +251621,12 @@ spondyloepiphyseal dysplasia, kimberley type spondyloepiphyseal dysplasia, kimberley type + + + + SEDK + + @@ -213431,6 +251668,12 @@ LIMA1 + + + + LIMA1 + + @@ -213449,6 +251692,12 @@ myopia 4, formerly myopia 17, autosomal dominant + + + + MYP17 + + @@ -213474,6 +251723,12 @@ SCD5 + + + + SCD5 + + @@ -213492,6 +251747,12 @@ orofacial cleft 4 orofacial cleft 4 + + + + OFC4 + + @@ -213509,6 +251770,12 @@ deafness, autosomal dominant 49 deafness, autosomal dominant 49 + + + + DFNA49 + + @@ -213534,6 +251801,12 @@ HJV + + + + HJV + + @@ -213559,6 +251832,12 @@ kiaa0473 DNAJC6 + + + + DNAJC6 + + @@ -213584,6 +251863,12 @@ NEMF + + + + NEMF + + @@ -213607,6 +251892,12 @@ retinitis pigmentosa 26 retinitis pigmentosa 26 + + + + RP26 + + @@ -213630,6 +251921,12 @@ CERKL + + + + CERKL + + @@ -213656,6 +251953,12 @@ DPYSL5 + + + + DPYSL5 + + @@ -213668,6 +251971,12 @@ branchiootic syndrome 3 branchiootic syndrome 3 + + + + BOS3 + + @@ -213702,6 +252011,12 @@ vitiligo-associated multiple autoimmune disease susceptibility 3 autoimmune disease, susceptibility to, 2 + + + + AIS2 + + @@ -213720,6 +252035,12 @@ vitiligo-associated multiple autoimmune disease susceptibility 4 autoimmune disease, susceptibility to, 3 + + + + AIS3 + + @@ -213731,6 +252052,12 @@ microcephaly 6, primary, autosomal recessive microcephaly 6, primary, autosomal recessive + + + + MCPH6 + + @@ -213748,6 +252075,12 @@ deafness, autosomal dominant 43 deafness, autosomal dominant 43 + + + + DFNA43 + + @@ -213781,6 +252114,12 @@ SLC9A9 + + + + SLC9A9 + + @@ -213811,6 +252150,12 @@ usherin USH2A + + + + USH2A + + @@ -213849,6 +252194,12 @@ obesity, susceptibility to body mass index quantitative trait locus 7 + + + + BMIQ7 + + @@ -213874,6 +252225,12 @@ PLCE1 + + + + PLCE1 + + @@ -213898,6 +252255,12 @@ prolonged electroretinal response suppression 1 prolonged electroretinal response suppression 1 + + + + PERRS1 + + @@ -213921,6 +252284,12 @@ MMP21 + + + + MMP21 + + @@ -213945,6 +252314,12 @@ MCEE + + + + MCEE + + @@ -213969,6 +252344,12 @@ PANX1 + + + + PANX1 + + @@ -213993,6 +252374,12 @@ muscular dystrophy, limb-girdle, type 1f muscular dystrophy, limb-girdle, autosomal dominant 2 + + + + LGMDD2 + + @@ -214016,6 +252403,12 @@ CYP26C1 + + + + CYP26C1 + + @@ -214041,6 +252434,12 @@ CHST14 + + + + CHST14 + + @@ -214076,6 +252475,12 @@ ZBTB18 + + + + ZBTB18 + + @@ -214100,6 +252505,12 @@ MRAS + + + + MRAS + + @@ -214116,6 +252527,12 @@ systemic lupus erythematosus, susceptibility to, 4 systemic lupus erythematosus, susceptibility to, 4 + + + + SLEB4 + + @@ -214140,6 +252557,12 @@ TLK2 + + + + TLK2 + + @@ -214183,6 +252606,12 @@ This term has one or more labels that end with ', INCLUDED'. SYNE1 + + + + SYNE1 + + @@ -214211,6 +252640,12 @@ SYNE2 + + + + SYNE2 + + @@ -214235,6 +252670,12 @@ mental retardation, autosomal recessive 3 intellectual developmental disorder, autosomal recessive 3 + + + + MRT3 + + @@ -214259,6 +252700,12 @@ KMT2E + + + + KMT2E + + @@ -214405,6 +252852,12 @@ inflammatory bowel disease 9 inflammatory bowel disease 9 + + + + IBD9 + + @@ -214431,6 +252884,12 @@ ETHE1 + + + + ETHE1 + + @@ -214464,6 +252923,12 @@ PYGM + + + + PYGM + + @@ -214477,6 +252942,12 @@ familial adenomatous polyposis 2 familial adenomatous polyposis 2 + + + + FAP2 + + @@ -214502,6 +252973,12 @@ NCDN + + + + NCDN + + @@ -214526,6 +253003,12 @@ COL27A1 + + + + COL27A1 + + @@ -214543,6 +253026,12 @@ hirschsprung disease, susceptibility to, 8 hirschsprung disease, susceptibility to, 8 + + + + HSCR8 + + @@ -214571,6 +253060,12 @@ senataxin SETX + + + + SETX + + @@ -214585,6 +253080,12 @@ reis-bucklers corneal dystrophy corneal dystrophy, reis-bucklers type + + + + CDRB + + @@ -214596,6 +253097,12 @@ lattice corneal dystrophy, type 3a corneal dystrophy, lattice type 3a + + + + CDL3A + + @@ -214620,6 +253127,12 @@ ANAPC1 + + + + ANAPC1 + + @@ -214637,6 +253150,12 @@ myopia 5, autosomal dominant myopia 5, autosomal dominant + + + + MYP5 + + @@ -214661,6 +253180,12 @@ SLC26A8 + + + + SLC26A8 + + @@ -214695,6 +253220,12 @@ SMOC1 + + + + SMOC1 + + @@ -214725,6 +253256,12 @@ stromalin 3 STAG3 + + + + STAG3 + + @@ -214751,6 +253288,12 @@ ZPBP + + + + ZPBP + + @@ -214778,6 +253321,12 @@ PRICKLE1 + + + + PRICKLE1 + + @@ -214828,6 +253377,12 @@ mitofusin 2 MFN2 + + + + MFN2 + + @@ -214854,6 +253409,12 @@ CYBA + + + + CYBA + + @@ -214888,6 +253449,12 @@ NCF1 + + + + NCF1 + + @@ -214913,6 +253480,12 @@ NCF2 + + + + NCF2 + + @@ -214938,6 +253511,12 @@ This term has one or more labels that end with ', INCLUDED'. major depressive disorder + + + + MDD + + @@ -214966,6 +253545,12 @@ myopalladin MYPN + + + + MYPN + + @@ -214980,6 +253565,12 @@ whelan syndrome orofaciodigital syndrome 7 + + + + OFD7 + + @@ -215042,6 +253633,12 @@ PIGU + + + + PIGU + + @@ -215068,6 +253665,12 @@ NCAPG2 + + + + NCAPG2 + + @@ -215093,6 +253696,12 @@ FBXO38 + + + + FBXO38 + + @@ -215117,6 +253726,12 @@ GTPBP3 + + + + GTPBP3 + + @@ -215157,6 +253772,12 @@ von hippel-lindau tumor suppressor VHL + + + + VHL + + @@ -215181,6 +253802,12 @@ GLIS2 + + + + GLIS2 + + @@ -215205,6 +253832,12 @@ congenital disorder of glycosylation, type ik congenital disorder of glycosylation, type ik + + + + CDG1K + + @@ -215222,6 +253855,12 @@ aneurysm, intracranial berry, 2 aneurysm, intracranial berry, 2 + + + + ANIB2 + + @@ -215288,6 +253927,12 @@ EIF4A3 + + + + EIF4A3 + + @@ -215318,6 +253963,12 @@ vkor VKORC1 + + + + VKORC1 + + @@ -215343,6 +253994,12 @@ HMCN1 + + + + HMCN1 + + @@ -215372,6 +254029,12 @@ vps11 core subunit of corvet and hops complexes VPS11 + + + + VPS11 + + @@ -215396,6 +254059,12 @@ VPS16 + + + + VPS16 + + @@ -215431,6 +254100,12 @@ vps33b late endosome and lysosome associated VPS33B + + + + VPS33B + + @@ -215442,6 +254117,12 @@ leber congenital amaurosis 9 leber congenital amaurosis 9 + + + + LCA9 + + @@ -215465,6 +254146,12 @@ MTX2 + + + + MTX2 + + @@ -215506,6 +254193,12 @@ body mass index quantitative trait locus 5 body mass index quantitative trait locus 5 + + + + BMIQ5 + + @@ -215522,6 +254215,12 @@ body mass index quantitative trait locus 6 body mass index quantitative trait locus 6 + + + + BMIQ6 + + @@ -215549,6 +254248,12 @@ STAB1 + + + + STAB1 + + @@ -215599,6 +254304,12 @@ deafness, autosomal recessive 35 deafness, autosomal recessive 35 + + + + DFNB35 + + @@ -215614,6 +254325,12 @@ sinus rhythm, congenital absence of sick sinus syndrome 1 + + + + SSS1 + + @@ -215645,6 +254362,12 @@ nonmuscle myosin heavy chain 2c MYH14 + + + + MYH14 + + @@ -215657,6 +254380,12 @@ cardiomyopathy, dilated, with ventricular tachycardia cardiomyopathy, dilated, 1o + + + + CMD1O + + @@ -215689,6 +254418,12 @@ oculootofacial dysplasia burn-mckeown syndrome + + + + BMKS + + @@ -215734,6 +254469,12 @@ transcription factor cp2-like 3 GRHL2 + + + + GRHL2 + + @@ -215778,6 +254519,12 @@ myosin, heavy chain 16, skeletal muscle, pseudogene myosin, heavy chain 16, skeletal muscle, pseudogene + + + + MYH16 + + @@ -215806,6 +254553,12 @@ rp1-like protein 1 RP1L1 + + + + RP1L1 + + @@ -215824,6 +254577,12 @@ atrial fibrillation, familial, 1 atrial fibrillation, familial, 1 + + + + ATFB1 + + @@ -215872,6 +254631,12 @@ keratoconus 3 keratoconus 3 + + + + KTCN3 + + @@ -215915,6 +254680,12 @@ CFHR5 + + + + CFHR5 + + @@ -215941,6 +254712,12 @@ lipodystrophy, congenital generalized, type 1 lipodystrophy, congenital generalized, type 1 + + + + CGL1 + + @@ -215968,6 +254745,12 @@ NPSR1 + + + + NPSR1 + + @@ -215980,6 +254763,12 @@ lipodystrophy, familial partial, type 1 lipodystrophy, familial partial, type 1 + + + + FPLD1 + + @@ -216004,6 +254793,12 @@ GLDN + + + + GLDN + + @@ -216030,6 +254825,12 @@ STT3B + + + + STT3B + + @@ -216052,6 +254853,12 @@ ribose 5-phosphate isomerase deficiency ribose 5-phosphate isomerase deficiency + + + + RPIAD + + @@ -216064,6 +254871,12 @@ mandibuloacral dysplasia with type B lipodystrophy mandibuloacral dysplasia with type B lipodystrophy + + + + MADB + + @@ -216089,6 +254902,12 @@ SP6 + + + + SP6 + + @@ -216112,6 +254931,12 @@ CYP4V2 + + + + CYP4V2 + + @@ -216123,6 +254948,12 @@ tooth agenesis-colorectal cancer syndrome oligodontia-colorectal cancer syndrome + + + + ODCRCS + + @@ -216151,6 +254982,12 @@ OBSCN + + + + OBSCN + + @@ -216223,6 +255060,12 @@ PTRH2 + + + + PTRH2 + + @@ -216248,6 +255091,12 @@ STRADA + + + + STRADA + + @@ -216259,6 +255108,12 @@ amyotrophic lateral sclerosis 8 amyotrophic lateral sclerosis 8 + + + + ALS8 + + @@ -216291,6 +255146,12 @@ transducin-beta-like 1 receptor 1 TBL1XR1 + + + + TBL1XR1 + + @@ -216314,6 +255175,12 @@ joubert syndrome 3 joubert syndrome 3 + + + + JBTS3 + + @@ -216339,6 +255206,12 @@ ROBO3 + + + + ROBO3 + + @@ -216356,6 +255229,12 @@ asperger syndrome, susceptibility to, 2 asperger syndrome, susceptibility to, 2 + + + + ASPG2 + + @@ -216373,6 +255252,12 @@ caspase 12, apoptosis-related cysteine protease CASP12 + + + + CASP12 + + @@ -216387,6 +255272,12 @@ neuropathy, distal hereditary motor, harding type 2b neuronopathy, distal hereditary motor, autosomal dominant 3 + + + + HMND3 + + @@ -216433,6 +255324,12 @@ asperger syndrome, susceptibility to, 1 asperger syndrome, susceptibility to, 1 + + + + ASPG1 + + @@ -216444,6 +255341,12 @@ deafness, autosomal dominant 28 deafness, autosomal dominant 28 + + + + DFNA28 + + @@ -216469,6 +255372,12 @@ dopa decarboxylase deficiency aromatic l-amino acid decarboxylase deficiency + + + + AADCD + + @@ -216493,6 +255402,12 @@ ciliary dyskinesia, primary, 3, with or without situs inversus ciliary dyskinesia, primary, 3 + + + + CILD3 + + @@ -216510,6 +255425,12 @@ deafness, autosomal dominant 31 deafness, autosomal dominant 31 + + + + DFNA31 + + @@ -216528,6 +255449,12 @@ ciliary dyskinesia, primary, 4, with or without situs inversus ciliary dyskinesia, primary, 4 + + + + CILD4 + + @@ -216552,6 +255479,12 @@ ciliary dyskinesia, primary, 5, without situs inversus ciliary dyskinesia, primary, 5 + + + + CILD5 + + @@ -216576,6 +255509,12 @@ SEC63 + + + + SEC63 + + @@ -216599,6 +255538,12 @@ ichthyosis prematurity syndrome ichthyosis prematurity syndrome + + + + IPS + + @@ -216616,6 +255561,12 @@ deafness, autosomal dominant 47 deafness, autosomal dominant 47 + + + + DFNA47 + + @@ -216641,6 +255592,12 @@ hearing impairment infertile male syndrome deafness, autosomal recessive 32, with or without immotile sperm + + + + DFNB32 + + @@ -216666,6 +255623,12 @@ neuropathy, hereditary sensory and autonomic, type 5 neuropathy, hereditary sensory and autonomic, type 5 + + + + HSAN5 + + @@ -216735,6 +255698,12 @@ transmembrane protein 16e ANO5 + + + + ANO5 + + @@ -216759,6 +255728,12 @@ ANO6 + + + + ANO6 + + @@ -216794,6 +255769,12 @@ PSMC3IP + + + + PSMC3IP + + @@ -216823,6 +255804,12 @@ peroxisome biogenesis factor 26 PEX26 + + + + PEX26 + + @@ -216849,6 +255836,12 @@ NIPBL + + + + NIPBL + + @@ -216875,6 +255868,12 @@ ZMYND11 + + + + ZMYND11 + + @@ -216898,6 +255897,12 @@ BNC2 + + + + BNC2 + + @@ -216938,6 +255943,12 @@ kiaa0996 DZIP1 + + + + DZIP1 + + @@ -216951,6 +255962,12 @@ charcot-marie-tooth neuropathy, axonal, type 2l charcot-marie-tooth disease, axonal, type 2l + + + + CMT2L + + @@ -216976,6 +255993,12 @@ FCSK + + + + FCSK + + @@ -217003,6 +256026,12 @@ MIB1 + + + + MIB1 + + @@ -217027,6 +256056,12 @@ TP53RK + + + + TP53RK + + @@ -217052,6 +256087,12 @@ TPRKB + + + + TPRKB + + @@ -217075,6 +256116,12 @@ spondylocostal dysostosis 2, autosomal recessive spondylocostal dysostosis 2, autosomal recessive + + + + SCDO2 + + @@ -217100,6 +256147,12 @@ NIN + + + + NIN + + @@ -217120,6 +256173,12 @@ spinocerebellar ataxia with spasmodic cough spinocerebellar ataxia 20 + + + + SCA20 + + @@ -217183,6 +256242,12 @@ glaucoma, primary open angle, juvenile-onset, 2 glaucoma 1, open angle, j + + + + GLC1J + + @@ -217200,6 +256265,12 @@ glaucoma, primary open angle, juvenile-onset, 3 glaucoma 1, open angle, k + + + + GLC1K + + @@ -217224,6 +256295,12 @@ FIGLA + + + + FIGLA + + @@ -217249,6 +256326,12 @@ BMPER + + + + BMPER + + @@ -217279,6 +256362,12 @@ pyridine nucleotide adenylyltransferase 1 NMNAT1 + + + + NMNAT1 + + @@ -217290,6 +256379,12 @@ spinocerebellar ataxia 25 spinocerebellar ataxia 25 + + + + SCA25 + + @@ -217321,6 +256416,12 @@ ekn1 DNAAF4 + + + + DNAAF4 + + @@ -217345,6 +256446,12 @@ CDON + + + + CDON + + @@ -217359,6 +256466,12 @@ lipodystrophy, partial, progressive lipodystrophy, partial, acquired, susceptibility to + + + + APLD + + @@ -217376,6 +256489,12 @@ wegener granulomatosis, formerly granulomatosis with polyangiitis + + + + GPA + + @@ -217399,6 +256518,12 @@ CYP2R1 + + + + CYP2R1 + + @@ -217422,6 +256547,12 @@ microcephaly 5, primary, autosomal recessive microcephaly 5, primary, autosomal recessive + + + + MCPH5 + + @@ -217455,6 +256586,12 @@ PHACTR1 + + + + PHACTR1 + + @@ -217467,6 +256604,12 @@ spondyloepimetaphyseal dysplasia, matrilin-3 related spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type + + + + SEMDBCD + + @@ -217490,6 +256633,12 @@ SLC39A5 + + + + SLC39A5 + + @@ -217515,6 +256664,12 @@ SLC39A8 + + + + SLC39A8 + + @@ -217540,6 +256695,12 @@ SLC39A13 + + + + SLC39A13 + + @@ -217570,6 +256731,12 @@ zip14 SLC39A14 + + + + SLC39A14 + + @@ -217599,6 +256766,12 @@ histone mrna 3-prime end-specific exoribonuclease ERI1 + + + + ERI1 + + @@ -217645,6 +256818,12 @@ SLC25A24 + + + + SLC25A24 + + @@ -217669,6 +256848,12 @@ insulin-like growth factor 1 deficiency insulin-like growth factor 1 deficiency + + + + IGF1D + + @@ -217696,6 +256881,12 @@ BRD4 + + + + BRD4 + + @@ -217721,6 +256912,12 @@ ALG3 + + + + ALG3 + + @@ -217745,6 +256942,12 @@ cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1 cardiomyopathy, familial hypertrophic, 8 + + + + CMH8 + + @@ -217769,6 +256972,12 @@ C1QTNF5 + + + + C1QTNF5 + + @@ -217794,6 +257003,12 @@ TSEN2 + + + + TSEN2 + + @@ -217820,6 +257035,12 @@ TSEN34 + + + + TSEN34 + + @@ -217856,6 +257077,12 @@ trna splicing endonuclease, subunit 54 TSEN54 + + + + TSEN54 + + @@ -217882,6 +257109,12 @@ TSEN15 + + + + TSEN15 + + @@ -217909,6 +257142,12 @@ CLP1 + + + + CLP1 + + @@ -217921,6 +257160,12 @@ cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2 cardiomyopathy, familial hypertrophic, 10 + + + + CMH10 + + @@ -217948,6 +257193,12 @@ ATG7 + + + + ATG7 + + @@ -217977,6 +257228,12 @@ solute carrier family 5 (choline transporter), member 7 SLC5A7 + + + + SLC5A7 + + @@ -217995,6 +257252,12 @@ epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9 epilepsy, idiopathic generalized, susceptibility to, 3 + + + + EIG3 + + @@ -218021,6 +257284,12 @@ scoliosis, isolated, susceptibility to, 3 scoliosis, isolated, susceptibility to, 3 + + + + IS3 + + @@ -218044,6 +257313,12 @@ spinocerebellar ataxia 8 spinocerebellar ataxia 8 + + + + SCA8 + + @@ -218070,6 +257345,12 @@ PDHX + + + + PDHX + + @@ -218095,6 +257376,12 @@ DLAT + + + + DLAT + + @@ -218122,6 +257409,12 @@ MED13L + + + + MED13L + + @@ -218134,6 +257427,12 @@ congenital disorder of glycosylation, type il congenital disorder of glycosylation, type il + + + + CDG1L + + @@ -218157,6 +257456,12 @@ KLHL10 + + + + KLHL10 + + @@ -218181,6 +257486,12 @@ congenital disorder of glycosylation, type iie congenital disorder of glycosylation, type iie + + + + CDG2E + + @@ -218208,6 +257519,12 @@ GTF2H5 + + + + GTF2H5 + + @@ -218225,6 +257542,12 @@ asperger syndrome, susceptibility to, 3 asperger syndrome, susceptibility to, 3 + + + + ASPG3 + + @@ -218249,6 +257572,12 @@ pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase phosphatase deficiency + + + + PDHPD + + @@ -218272,6 +257601,12 @@ PC + + + + PC + + @@ -218289,6 +257624,12 @@ otosclerosis 5 otosclerosis 5 + + + + OTSC5 + + @@ -218313,6 +257654,12 @@ GIPC3 + + + + GIPC3 + + @@ -218330,6 +257677,12 @@ moyamoya disease 3 moyamoya disease 3 + + + + MYMY3 + + @@ -218355,6 +257708,12 @@ MEI1 + + + + MEI1 + + @@ -218380,6 +257739,12 @@ GSDME + + + + GSDME + + @@ -218404,6 +257769,12 @@ congenital disorder of glycosylation, type ie congenital disorder of glycosylation, type ie + + + + CDG1E + + @@ -218426,6 +257797,12 @@ sudden infant death with dysgenesis of the testes syndrome sudden infant death with dysgenesis of the testes syndrome + + + + SIDDT + + @@ -218449,6 +257826,12 @@ GCDH + + + + GCDH + + @@ -218487,6 +257870,12 @@ gap junction protein, gamma-2 GJC2 + + + + GJC2 + + @@ -218499,6 +257888,12 @@ pelizaeus-merzbacher-like disease, 1 leukodystrophy, hypomyelinating, 2 + + + + HLD2 + + @@ -218514,6 +257909,12 @@ osteonecrosis of femoral head avascular necrosis of femoral head, primary, 1 + + + + ANFH1 + + @@ -218526,6 +257927,12 @@ muscular dystrophy, limb-girdle, type 2j muscular dystrophy, limb-girdle, autosomal recessive 10 + + + + LGMDR10 + + @@ -218537,6 +257944,12 @@ transposition of the great arteries, dextro-looped transposition of the great arteries, dextro-looped + + + + DTGA + + @@ -218547,6 +257960,12 @@ leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema + + + + LACH + + @@ -218562,6 +257981,12 @@ myopathy, myofibrillar, with or without cataract and/or cardiomyopathy myopathy, myofibrillar, 2 + + + + MFM2 + + @@ -218599,6 +258024,12 @@ colorectal cancer, susceptibility to, on chromosome 9 colorectal cancer, susceptibility to, 1 + + + + CRCS1 + + @@ -218638,6 +258069,12 @@ myoclonin 1 EFHC1 + + + + EFHC1 + + @@ -218655,6 +258092,12 @@ myoclonic epilepsy, juvenile, susceptibility to, 3 myoclonic epilepsy, juvenile, susceptibility to, 3 + + + + EJM3 + + @@ -218678,6 +258121,12 @@ SUMO4 + + + + SUMO4 + + @@ -218702,6 +258151,12 @@ RDH12 + + + + RDH12 + + @@ -218719,6 +258174,12 @@ restless legs syndrome, susceptibility to, 2 restless legs syndrome, susceptibility to, 2 + + + + RLS2 + + @@ -218744,6 +258205,12 @@ GREM2 + + + + GREM2 + + @@ -218777,6 +258244,12 @@ telomere length regulator RTEL1 + + + + RTEL1 + + @@ -218812,6 +258285,12 @@ muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6 + + + + MDDGB6 + + @@ -218837,6 +258316,12 @@ CPAMD8 + + + + CPAMD8 + + @@ -218873,6 +258358,12 @@ bbs3 gene ARL6 + + + + ARL6 + + @@ -218898,6 +258389,12 @@ CPT1C + + + + CPT1C + + @@ -218915,6 +258412,12 @@ macular dystrophy, retinal, 3 macular dystrophy, retinal, 3 + + + + MCDR3 + + @@ -218957,6 +258460,12 @@ ASTL + + + + ASTL + + @@ -218985,6 +258494,12 @@ NAXE + + + + NAXE + + @@ -218997,6 +258512,12 @@ orofacial cleft 6, susceptibility to orofacial cleft 6, susceptibility to + + + + OFC6 + + @@ -219026,6 +258547,12 @@ FRA10AC1 + + + + FRA10AC1 + + @@ -219051,6 +258578,12 @@ LRIG2 + + + + LRIG2 + + @@ -219074,6 +258607,12 @@ SEMA6B + + + + SEMA6B + + @@ -219086,6 +258625,12 @@ orofacial cleft 5 orofacial cleft 5 + + + + OFC5 + + @@ -219126,6 +258671,12 @@ VPS13D + + + + VPS13D + + @@ -219167,6 +258718,12 @@ VPS13C + + + + VPS13C + + @@ -219204,6 +258761,12 @@ RALGAPA1 + + + + RALGAPA1 + + @@ -219216,6 +258779,12 @@ stomatin-deficient cryohydrocytosis with neurologic defects stomatin-deficient cryohydrocytosis with neurologic defects + + + + SDCHCN + + @@ -219254,6 +258823,12 @@ kiaa1416 CHD7 + + + + CHD7 + + @@ -219278,6 +258853,12 @@ SLC6A19 + + + + SLC6A19 + + @@ -219302,6 +258883,12 @@ AHI1 + + + + AHI1 + + @@ -219313,6 +258900,12 @@ macular degeneration, age-related, 3 macular degeneration, age-related, 3 + + + + ARMD3 + + @@ -219337,6 +258930,12 @@ SGCG + + + + SGCG + + @@ -219362,6 +258961,12 @@ UNC13D + + + + UNC13D + + @@ -219387,6 +258992,12 @@ hplh3 hemophagocytic lymphohistiocytosis, familial, 3 + + + + FHL3 + + @@ -219507,6 +259118,12 @@ alzheimer disease 9, susceptibility to alzheimer disease 9, susceptibility to + + + + AD9 + + @@ -219518,6 +259135,12 @@ myopia 6 myopia 6 + + + + MYP6 + + @@ -219528,6 +259151,12 @@ choanal atresia, posterior choanal atresia, posterior + + + + PCA + + @@ -219552,6 +259181,12 @@ ATPAF2 + + + + ATPAF2 + + @@ -219577,6 +259212,12 @@ PITPNM3 + + + + PITPNM3 + + @@ -219601,6 +259242,12 @@ ARL13B + + + + ARL13B + + @@ -219612,6 +259259,12 @@ myasthenic syndrome, congenital, 1b, fast-channel myasthenic syndrome, congenital, 1b, fast-channel + + + + CMS1B + + @@ -219626,6 +259279,12 @@ myasthenic syndrome, congenital, type id myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency + + + + CMS4C + + @@ -219643,6 +259302,12 @@ keratoconus 2 keratoconus 2 + + + + KTCN2 + + @@ -219659,6 +259324,12 @@ lung cancer susceptibility 1 lung cancer susceptibility 1 + + + + LNCR1 + + @@ -219669,6 +259340,12 @@ spondylometaphyseal dysplasia with cone-rod dystrophy spondylometaphyseal dysplasia with cone-rod dystrophy + + + + SMDCRD + + @@ -219704,6 +259381,12 @@ fras1-related extracellular matrix protein 1 FREM1 + + + + FREM1 + + @@ -219732,6 +259415,12 @@ fras1-related extracellular matrix protein 2 FREM2 + + + + FREM2 + + @@ -219756,6 +259445,12 @@ immunodeficiency 116 immunodeficiency 116 + + + + IMD116 + + @@ -219779,6 +259474,12 @@ adenosine deaminase ADA + + + + ADA + + @@ -219810,6 +259511,12 @@ transient receptor potential cation channel, subfamily m, member 3 TRPM3 + + + + TRPM3 + + @@ -219833,6 +259540,12 @@ CABP4 + + + + CABP4 + + @@ -219872,6 +259585,12 @@ v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B MAFB + + + + MAFB + + @@ -219902,6 +259621,12 @@ macular dystrophy, patterned, 2 macular dystrophy, patterned, 2 + + + + MDPT2 + + @@ -219928,6 +259653,12 @@ severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive immunodeficiency 104, severe combined + + + + IMD104 + + @@ -219952,6 +259683,12 @@ DNAJC19 + + + + DNAJC19 + + @@ -219971,6 +259708,12 @@ bifid nose with or without anorectal and renal anomalies bifid nose with or without anorectal and renal anomalies + + + + BNAR + + @@ -219987,6 +259730,12 @@ stature quantitative trait locus 5 stature quantitative trait locus 5 + + + + STQTL5 + + @@ -220007,6 +259756,12 @@ ataxia, sensory, 1, autosomal dominant ataxia, sensory, 1, autosomal dominant + + + + SNAX1 + + @@ -220036,6 +259791,12 @@ RNF2 + + + + RNF2 + + @@ -220053,6 +259814,12 @@ atrial fibrillation, familial, 2 atrial fibrillation, familial, 2 + + + + ATFB2 + + @@ -220076,6 +259843,12 @@ ADAMTS10 + + + + ADAMTS10 + + @@ -220092,6 +259865,12 @@ dyslexia, susceptibility to, 8 dyslexia, susceptibility to, 8 + + + + DYX8 + + @@ -220103,6 +259882,12 @@ premature ovarian failure 3 premature ovarian failure 3 + + + + POF3 + + @@ -220124,6 +259909,12 @@ This term has one or more labels that end with ', INCLUDED'. deafness, autosomal recessive 36, with or without vestibular involvement + + + + DFNB36 + + @@ -220148,6 +259939,12 @@ LRRK2 + + + + LRRK2 + + @@ -220182,6 +259979,12 @@ MCCC1 + + + + MCCC1 + + @@ -220207,6 +260010,12 @@ MCCC2 + + + + MCCC2 + + @@ -220222,6 +260031,12 @@ This term has one or more labels that end with ', INCLUDED'. mitochondrial trifunctional protein deficiency 1 + + + + MTPD1 + + @@ -220262,6 +260077,12 @@ erythroid membrane-associated protein ERMAP + + + + ERMAP + + @@ -220286,6 +260107,12 @@ HLCS + + + + HLCS + + @@ -220309,6 +260136,12 @@ BTD + + + + BTD + + @@ -220345,6 +260178,12 @@ PNKD + + + + PNKD + + @@ -220370,6 +260209,12 @@ KDELR2 + + + + KDELR2 + + @@ -220396,6 +260241,12 @@ KRT75 + + + + KRT75 + + @@ -220414,6 +260265,12 @@ cataract, age-related cortical, 1 cataract 28 + + + + CTRCT28 + + @@ -220437,6 +260294,12 @@ indian blood group system blood group, indian system + + + + IN + + @@ -220476,6 +260339,12 @@ posterior column ataxia with retinitis pigmentosa posterior column ataxia with retinitis pigmentosa + + + + AXPC1 + + @@ -220503,6 +260372,12 @@ narcolepsy 3 narcolepsy 3 + + + + NRCLP3 + + @@ -220527,6 +260402,12 @@ arrhythmogenic right ventricular dysplasia, familial, 9 arrhythmogenic right ventricular dysplasia, familial, 9 + + + + ARVD9 + + @@ -220544,6 +260425,12 @@ spastic paraplegia 27, autosomal recessive spastic paraplegia 27, autosomal recessive + + + + SPG27 + + @@ -220569,6 +260456,12 @@ FFAR4 + + + + FFAR4 + + @@ -220601,6 +260494,12 @@ melanoma, cutaneous malignant, susceptibility to, 3 melanoma, cutaneous malignant, susceptibility to, 3 + + + + CMM3 + + @@ -220612,6 +260511,12 @@ pierson syndrome pierson syndrome + + + + PIERS + + @@ -220639,6 +260544,12 @@ CARD8 + + + + CARD8 + + @@ -220650,6 +260561,12 @@ spondylometaphyseal dysplasia, type a4 spondylometaphyseal dysplasia, type a4 + + + + SMDA4 + + @@ -220673,6 +260590,12 @@ fanconi anemia, complementation group 1 fanconi anemia, complementation group 1 + + + + FANCI + + @@ -220684,6 +260607,12 @@ fanconi anemia, complementation group j fanconi anemia, complementation group j + + + + FANCJ + + @@ -220695,6 +260624,12 @@ ceroid lipofuscinosis, neuronal, 9 ceroid lipofuscinosis, neuronal, 9 + + + + CLN9 + + @@ -220721,6 +260656,12 @@ salt and pepper mental retardation syndrome salt and pepper developmental regression syndrome + + + + SPDRS + + @@ -220733,6 +260674,12 @@ nephropathy with pretibial epidermolysis bullosa and deafness epidermolysis bullosa simplex 7, with nephropathy and deafness + + + + EBS7 + + @@ -220759,6 +260706,12 @@ MMUT + + + + MMUT + + @@ -220788,6 +260741,12 @@ PNPLA2 + + + + PNPLA2 + + @@ -220812,6 +260771,12 @@ hepatoencephalopathy, early fatal progressive combined oxidative phosphorylation deficiency 1 + + + + COXPD1 + + @@ -220836,6 +260801,12 @@ POU6F2 + + + + POU6F2 + + @@ -220861,6 +260832,12 @@ TXN2 + + + + TXN2 + + @@ -220881,6 +260858,12 @@ pancreatic and cerebellar agenesis pancreatic and cerebellar agenesis + + + + PACA + + @@ -220892,6 +260875,12 @@ hemoglobin, high oxygen saturation of hemoglobin, high altitude adaptation + + + + HALAH + + @@ -220917,6 +260906,12 @@ FBXO28 + + + + FBXO28 + + @@ -220942,6 +260937,12 @@ FBXO31 + + + + FBXO31 + + @@ -220973,6 +260974,12 @@ fbx43 FBXO43 + + + + FBXO43 + + @@ -220990,6 +260997,12 @@ telomere length, mean leukocyte telomere length, mean leukocyte + + + + LTL + + @@ -221014,6 +261027,12 @@ muscular dystrophy, limb-girdle, type 1g muscular dystrophy, limb-girdle, autosomal dominant 3 + + + + LGMDD3 + + @@ -221055,6 +261074,47 @@ PDCD10 + + + + PDCD10 + + + + + + + + + + + + + + + + + + + + + + + + + + + THAP11 + ronin + thap domain-containing protein 11 + THAP11 + + + + + THAP11 + + @@ -221072,6 +261132,12 @@ aneurysm, intracranial berry, 3 aneurysm, intracranial berry, 3 + + + + ANIB3 + + @@ -221097,6 +261163,12 @@ ATP9A + + + + ATP9A + + @@ -221119,6 +261191,12 @@ arthrogryposis, distal, type 4 arthrogryposis, distal, type 4 + + + + DA4 + + @@ -221143,6 +261221,12 @@ auditory neuropathy, nonsyndromic dominant auditory neuropathy, autosomal dominant 1 + + + + AUNA1 + + @@ -221171,6 +261255,12 @@ KDM1A + + + + KDM1A + + @@ -221193,6 +261283,12 @@ waardenburg-shah syndrome, neurologic variant peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease + + + + PCWH + + @@ -221228,6 +261324,12 @@ receptor expression-enhancing protein 1 REEP1 + + + + REEP1 + + @@ -221239,6 +261341,12 @@ corneal dystrophy, posterior polymorphous, 2 corneal dystrophy, posterior polymorphous, 2 + + + + PPCD2 + + @@ -221250,6 +261358,12 @@ corneal dystrophy, posterior polymorphous, 3 corneal dystrophy, posterior polymorphous, 3 + + + + PPCD3 + + @@ -221285,6 +261399,12 @@ FLVCR1 + + + + FLVCR1 + + @@ -221309,6 +261429,12 @@ NFASC + + + + NFASC + + @@ -221359,6 +261485,12 @@ pseudohyperkalemia, familial, 2, due to red cell leak pseudohyperkalemia, familial, 2, due to red cell leak + + + + PSHK2 + + @@ -221379,6 +261511,12 @@ striatal degeneration, autosomal dominant 1 striatal degeneration, autosomal dominant 1 + + + + ADSD1 + + @@ -221417,6 +261555,12 @@ This term has one or more labels that end with ', INCLUDED'. ichthyosis with confetti + + + + IWC + + @@ -221459,6 +261603,12 @@ SGOL1 + + + + SGOL1 + + @@ -221488,6 +261638,12 @@ KNL1 + + + + KNL1 + + @@ -221529,6 +261685,12 @@ congenital disorder of glycosylation, type if congenital disorder of glycosylation, type if + + + + CDG1F + + @@ -221553,6 +261715,12 @@ D2HGDH + + + + D2HGDH + + @@ -221577,6 +261745,12 @@ SUGCT + + + + SUGCT + + @@ -221602,6 +261776,12 @@ MPLKIP + + + + MPLKIP + + @@ -221617,6 +261797,12 @@ loeys-dietz syndrome 1 loeys-dietz syndrome 1 + + + + LDS1 + + @@ -221640,6 +261826,12 @@ spastic paraplegia 26, autosomal recessive spastic paraplegia 26, autosomal recessive + + + + SPG26 + + @@ -221665,6 +261857,12 @@ MRAP + + + + MRAP + + @@ -221684,6 +261882,12 @@ glucocorticoid deficiency 3 glucocorticoid deficiency 3 + + + + GCCD3 + + @@ -221712,6 +261916,12 @@ myotilinopathy myopathy, myofibrillar, 3 + + + + MFM3 + + @@ -221760,6 +261970,12 @@ IVNS1ABP + + + + IVNS1ABP + + @@ -221797,6 +262013,12 @@ sec61a SEC61A1 + + + + SEC61A1 + + @@ -221822,6 +262044,12 @@ foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis foveal hypoplasia 2 + + + + FVH2 + + @@ -221846,6 +262074,12 @@ osteogenesis imperfecta with congenital joint contractures bruck syndrome 2 + + + + BRKS2 + + @@ -221856,6 +262090,12 @@ dandy-walker malformation with occipital cephalocele, autosomal dominant dandy-walker malformation with occipital cephalocele, autosomal dominant + + + + ADDWOC + + @@ -221888,6 +262128,12 @@ WIPI2 + + + + WIPI2 + + @@ -221913,6 +262159,12 @@ WDR45B + + + + WDR45B + + @@ -221936,6 +262188,12 @@ griscelli syndrome, type 3 griscelli syndrome, type 3 + + + + GS3 + + @@ -221962,6 +262220,12 @@ IQCB1 + + + + IQCB1 + + @@ -221986,6 +262250,12 @@ purinergic receptor p2y, g protein-coupled, 5 LPAR6 + + + + LPAR6 + + @@ -222041,6 +262311,12 @@ GPSM2 + + + + GPSM2 + + @@ -222064,6 +262340,12 @@ RNF13 + + + + RNF13 + + @@ -222092,6 +262374,12 @@ febrile seizures, familial, 6 febrile seizures, familial, 6 + + + + FEB6 + + @@ -222115,6 +262403,12 @@ senior-loken syndrome 5 senior-loken syndrome 5 + + + + SLSN5 + + @@ -222133,6 +262427,12 @@ febrile seizures, familial, 5 febrile seizures, familial, 5 + + + + FEB5 + + @@ -222150,6 +262450,12 @@ myopia 7 myopia 7 + + + + MYP7 + + @@ -222167,6 +262473,12 @@ myopia 8 myopia 8 + + + + MYP8 + + @@ -222184,6 +262496,12 @@ myopia 9 myopia 9 + + + + MYP9 + + @@ -222201,6 +262519,12 @@ myopia 10 myopia 10 + + + + MYP10 + + @@ -222217,6 +262541,12 @@ hmsn iia2 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a + + + + CMT2A2A + + @@ -222234,6 +262564,12 @@ stuttering, familial persistent, 2 stuttering, familial persistent, 2 + + + + STUT2 + + @@ -222257,6 +262593,12 @@ CRBN + + + + CRBN + + @@ -222281,6 +262623,12 @@ NUP37 + + + + NUP37 + + @@ -222294,6 +262642,12 @@ tumor predisposition syndrome 4 tumor predisposition syndrome 4 + + + + TPDS4 + + @@ -222314,6 +262668,12 @@ spinocerebellar ataxia, autosomal recessive 7 spinocerebellar ataxia, autosomal recessive 7 + + + + SCAR7 + + @@ -222331,6 +262691,12 @@ keratoconus 4 keratoconus 4 + + + + KTCN4 + + @@ -222354,6 +262720,12 @@ nemaline myopathy 6 nemaline myopathy 6 + + + + NEM6 + + @@ -222385,6 +262757,12 @@ rab3gap, 150-kd subunit RAB3GAP2 + + + + RAB3GAP2 + + @@ -222411,6 +262789,12 @@ NCAPD3 + + + + NCAPD3 + + @@ -222440,6 +262824,12 @@ centrosomal p4.1-associated protein CENPJ + + + + CENPJ + + @@ -222465,6 +262855,12 @@ EIF2AK4 + + + + EIF2AK4 + + @@ -222477,6 +262873,12 @@ progressive external ophthalmoplegia, autosomal dominant 2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 + + + + PEOA2 + + @@ -222489,6 +262891,12 @@ congenital myopathy 4b, autosomal recessive congenital myopathy 4b, autosomal recessive + + + + CMYO4B + + @@ -222503,6 +262911,12 @@ nemaline myopathy 4 congenital myopathy 23 + + + + CMYO23 + + @@ -222515,6 +262929,12 @@ progressive external ophthalmoplegia, autosomal dominant 3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 + + + + PEOA3 + + @@ -222532,6 +262952,12 @@ syncope, familial vasovagal syncope, familial vasovagal + + + + VVS + + @@ -222555,6 +262981,12 @@ SPRED1 + + + + SPRED1 + + @@ -222578,6 +263010,12 @@ SPRED2 + + + + SPRED2 + + @@ -222602,6 +263040,12 @@ hoffman syndrome b-cell immunodeficiency, distal limb anomalies, and urogenital malformations + + + + BILU + + @@ -222618,6 +263062,12 @@ prostate cancer, hereditary, 5 prostate cancer, hereditary, 5 + + + + HPC5 + + @@ -222646,6 +263096,12 @@ steroid 17-hydroxylase/17,20-lyase CYP17A1 + + + + CYP17A1 + + @@ -222677,6 +263133,12 @@ thw PERP + + + + PERP + + @@ -222701,6 +263163,12 @@ SLC25A22 + + + + SLC25A22 + + @@ -222725,6 +263193,12 @@ epileptic encephalopathy, early infantile, 3 developmental and epileptic encephalopathy 3 + + + + DEE3 + + @@ -222748,6 +263222,12 @@ spinocerebellar ataxia 26 spinocerebellar ataxia 26 + + + + SCA26 + + @@ -222771,6 +263251,12 @@ muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 + + + + MDDGC1 + + @@ -222806,6 +263292,12 @@ muts, e. coli, homolog of, 2 MSH2 + + + + MSH2 + + @@ -222820,6 +263312,12 @@ lynch syndrome 2 lynch syndrome 2 + + + + LYNCH2 + + @@ -222842,10 +263340,16 @@ CMT4H charcot-marie-tooth disease, autosomal recessive, type 4h charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h - charcot-marie-tooth disease, type 4h + charcot-marie-tooth disease, demyelinating, type 4h charcot-marie-tooth neuropathy, type 4h - charcot-marie-tooth disease, type 4h + charcot-marie-tooth disease, demyelinating, type 4h + + + + CMT4H + + @@ -222870,6 +263374,12 @@ DBH + + + + DBH + + @@ -222896,6 +263406,12 @@ mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma mednik syndrome + + + + MEDNIK + + @@ -222923,6 +263439,12 @@ RSPH1 + + + + RSPH1 + + @@ -222947,6 +263469,12 @@ TRIM36 + + + + TRIM36 + + @@ -222964,6 +263492,12 @@ hematocrit/hemoglobin quantitative trait locus on chromosome 6 hematocrit/hemoglobin quantitative trait locus 1 + + + + HCHGQ1 + + @@ -222981,6 +263515,12 @@ hematocrit/hemoglobin quantitative trait locus on chromosome 9 hematocrit/hemoglobin quantitative trait locus 2 + + + + HCHGQ2 + + @@ -223005,6 +263545,12 @@ SASS6 + + + + SASS6 + + @@ -223022,6 +263568,12 @@ This term has one or more labels that end with ', INCLUDED'. rhabdoid tumor predisposition syndrome 1 + + + + RTPS1 + + @@ -223065,6 +263617,12 @@ TTC7A + + + + TTC7A + + @@ -223123,6 +263681,12 @@ spastic paraplegia 28, autosomal recessive spastic paraplegia 28, autosomal recessive + + + + SPG28 + + @@ -223148,6 +263712,12 @@ CBLIF + + + + CBLIF + + @@ -223183,6 +263753,12 @@ REEP6 + + + + REEP6 + + @@ -223213,6 +263789,12 @@ sgc32445 REEP2 + + + + REEP2 + + @@ -223225,6 +263807,12 @@ epidermolysis bullosa simplex with migratory circinate erythema epidermolysis bullosa simplex 2e, with migratory circinate erythema + + + + EBS2E + + @@ -223258,6 +263846,12 @@ establishment of sister chromatid cohesion n-acetyltransferase 2 ESCO2 + + + + ESCO2 + + @@ -223274,6 +263868,12 @@ bone mineral density quantitative trait locus 5 bone mineral density quantitative trait locus 5 + + + + BMND5 + + @@ -223299,6 +263899,12 @@ MCM10 + + + + MCM10 + + @@ -223335,6 +263941,12 @@ NLRP2 + + + + NLRP2 + + @@ -223360,6 +263972,12 @@ KIFBP + + + + KIFBP + + @@ -223383,6 +264001,12 @@ ATL3 + + + + ATL3 + + @@ -223411,6 +264035,12 @@ KDM3B + + + + KDM3B + + @@ -223429,6 +264059,12 @@ cataract, congenital nuclear, autosomal recessive 1 cataract 35 + + + + CTRCT35 + + @@ -223456,6 +264092,12 @@ tin2-interacting protein 1 ACD + + + + ACD + + @@ -223473,6 +264115,12 @@ autism, susceptibility to, 6 autism, susceptibility to, 6 + + + + AUTS6 + + @@ -223496,6 +264144,12 @@ IER3IP1 + + + + IER3IP1 + + @@ -223520,6 +264174,12 @@ NIPAL4 + + + + NIPAL4 + + @@ -223538,6 +264198,12 @@ fibrosis of extraocular muscles, congenital, 3c fibrosis of extraocular muscles, congenital, 3c + + + + CFEOM3C + + @@ -223563,6 +264229,12 @@ SMC5 + + + + SMC5 + + @@ -223606,6 +264278,12 @@ sac domain-containing inositol phosphatase 3 FIG4 + + + + FIG4 + + @@ -223629,6 +264307,12 @@ STOX1 + + + + STOX1 + + @@ -223647,6 +264331,12 @@ vitiligo-associated multiple autoimmune disease susceptibility 5 autoimmune disease, susceptibility to, 4 + + + + AIS4 + + @@ -223664,6 +264354,12 @@ preeclampsia/eclampsia 2 preeclampsia/eclampsia 2 + + + + PEE2 + + @@ -223681,6 +264377,12 @@ preeclampsia/eclampsia 3 preeclampsia/eclampsia 3 + + + + PEE3 + + @@ -223704,6 +264406,12 @@ preeclampsia/eclampsia 4 preeclampsia/eclampsia 4 + + + + PEE4 + + @@ -223721,6 +264429,12 @@ holoprosencephaly 8 holoprosencephaly 8 + + + + HPE8 + + @@ -223752,6 +264466,12 @@ excision repair cross-complementing, group 8 ERCC8 + + + + ERCC8 + + @@ -223819,6 +264539,12 @@ This term has one or more labels that end with ', INCLUDED'. ERCC6 + + + + ERCC6 + + @@ -223845,6 +264571,12 @@ PIKFYVE + + + + PIKFYVE + + @@ -223929,6 +264661,12 @@ RC3H1 + + + + RC3H1 + + @@ -223970,6 +264708,12 @@ LHFPL5 + + + + LHFPL5 + + @@ -224001,6 +264745,12 @@ syndactyly, type 9 syndactyly, mesoaxial synostotic, with phalangeal reduction + + + + MSSD + + @@ -224031,6 +264781,12 @@ nadh-ubiquinone oxidoreductase subunit a13 NDUFA13 + + + + NDUFA13 + + @@ -224052,6 +264808,12 @@ deafness, autosomal recessive 48 deafness, autosomal recessive 48 + + + + DFNB48 + + @@ -224065,6 +264827,12 @@ chondrodysplasia, acromesomelic, with or without genital anomalies acromesomelic dysplasia 3 + + + + AMD3 + + @@ -224100,6 +264868,12 @@ CELA2A + + + + CELA2A + + @@ -224111,6 +264885,12 @@ paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy + + + + PNKD3 + + @@ -224142,6 +264922,12 @@ nude, a. nidulans, homolog of, 1 NDE1 + + + + NDE1 + + @@ -224154,6 +264940,12 @@ myopathy, myofibrillar, 4 myopathy, myofibrillar, 4 + + + + MFM4 + + @@ -224171,6 +264963,12 @@ supranuclear palsy, progressive, 2 supranuclear palsy, progressive, 2 + + + + PSNP2 + + @@ -224204,6 +265002,12 @@ HAL + + + + HAL + + @@ -224229,6 +265033,12 @@ MAN2B1 + + + + MAN2B1 + + @@ -224252,6 +265062,12 @@ goldberg-shprintzen syndrome goldberg-shprintzen syndrome + + + + GOSHS + + @@ -224271,6 +265087,12 @@ al-gazali syndrome al-gazali syndrome + + + + ALGAZ + + @@ -224294,6 +265116,12 @@ ld78-gamma chemokine, cc motif, ligand 3, pseudogene 1 + + + + CCL3P1 + + @@ -224328,6 +265156,12 @@ left ventricular noncompaction 2 left ventricular noncompaction 2 + + + + LVNC2 + + @@ -224355,6 +265189,12 @@ GBA2 + + + + GBA2 + + @@ -224386,6 +265226,12 @@ mlk-related kinase MAP3K20 + + + + MAP3K20 + + @@ -224420,6 +265266,12 @@ MANBA + + + + MANBA + + @@ -224462,6 +265314,12 @@ protocadherin 21 CDHR1 + + + + CDHR1 + + @@ -224488,6 +265346,12 @@ CYP27B1 + + + + CYP27B1 + + @@ -224513,6 +265377,12 @@ TOPORS + + + + TOPORS + + @@ -224552,6 +265422,48 @@ IL31RA + + + + IL31RA + + + + + + + + + + + + + + + + + + + + + + + + + + + RBSN + rabenosyn 5 + rabenosyn, rab effector + zinc finger fyve domain-containing protein 20 + RBSN + + + + + RBSN + + @@ -224578,6 +265490,12 @@ CHMP2B + + + + CHMP2B + + @@ -224604,6 +265522,12 @@ TAF8 + + + + TAF8 + + @@ -224636,6 +265560,12 @@ THAP1 + + + + THAP1 + + @@ -224661,6 +265591,12 @@ ALDH3A2 + + + + ALDH3A2 + + @@ -224674,6 +265610,12 @@ myopathy, myofibrillar, filamin c-related myopathy, myofibrillar, 5 + + + + MFM5 + + @@ -224697,6 +265639,12 @@ cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome + + + + CEDNIK + + @@ -224709,6 +265657,12 @@ immunoglobulin a, selective deficiency of, taci-related immunoglobulin a deficiency 2 + + + + IGAD2 + + @@ -224736,6 +265690,12 @@ RAPGEF2 + + + + RAPGEF2 + + @@ -224773,6 +265733,12 @@ deafness, autosomal recessive 23 deafness, autosomal recessive 23 + + + + DFNB23 + + @@ -224798,6 +265764,12 @@ complement component 5 deficiency complement component 5 deficiency + + + + C5D + + @@ -224833,6 +265805,12 @@ ARID2 + + + + ARID2 + + @@ -224855,6 +265833,12 @@ spastic paraplegia, optic atrophy, and neuropathy spastic paraplegia, optic atrophy, and neuropathy + + + + SPOAN + + @@ -224887,6 +265871,12 @@ nanophthalmos, autosomal recessive nanophthalmos 2 + + + + NNO2 + + @@ -224917,6 +265907,12 @@ vip36-like protein LMAN2L + + + + LMAN2L + + @@ -224941,6 +265937,12 @@ PREPL + + + + PREPL + + @@ -224970,6 +265972,12 @@ mitochondrial dna depletion syndrome 2 mitochondrial DNA depletion syndrome 2 (myopathic type) + + + + MTDPS2 + + @@ -225005,6 +266013,12 @@ cpah CPA6 + + + + CPA6 + + @@ -225022,6 +266036,12 @@ parietal foramina 3 parietal foramina 3 + + + + PFM3 + + @@ -225073,6 +266093,12 @@ ZNF699 + + + + ZNF699 + + @@ -225091,6 +266117,12 @@ photoparoxysmal response with or without idiopathic generalized epilepsy photoparoxysmal response 2 + + + + PPR2 + + @@ -225109,6 +266141,12 @@ photoparoxysmal response with or without myoclonic epilepsy photoparoxysmal response 3 + + + + PPR3 + + @@ -225133,6 +266171,12 @@ ACADVL + + + + ACADVL + + @@ -225157,6 +266201,12 @@ CUL7 + + + + CUL7 + + @@ -225174,6 +266224,12 @@ cardiomyopathy, familial restrictive, 2 cardiomyopathy, familial restrictive, 2 + + + + RCM2 + + @@ -225204,6 +266260,12 @@ joubert syndrome 4 joubert syndrome 4 + + + + JBTS4 + + @@ -225229,6 +266291,12 @@ L2HGDH + + + + L2HGDH + + @@ -225261,6 +266329,12 @@ pro1238 GLRX5 + + + + GLRX5 + + @@ -225286,6 +266360,12 @@ RIT1 + + + + RIT1 + + @@ -225313,6 +266393,12 @@ roof plate-specific spondin, mouse, homolog of RSPO1 + + + + RSPO1 + + @@ -225324,6 +266410,12 @@ parietal foramina 2 parietal foramina 2 + + + + PFM2 + + @@ -225350,6 +266442,12 @@ NECTIN4 + + + + NECTIN4 + + @@ -225383,6 +266481,12 @@ TUBGCP4 + + + + TUBGCP4 + + @@ -225429,6 +266533,12 @@ SLC30A2 + + + + SLC30A2 + + @@ -225440,6 +266550,12 @@ short qt syndrome 1 short qt syndrome 1 + + + + SQT1 + + @@ -225451,6 +266567,12 @@ short qt syndrome 2 short qt syndrome 2 + + + + SQT2 + + @@ -225462,6 +266584,12 @@ short qt syndrome 3 short qt syndrome 3 + + + + SQT3 + + @@ -225502,6 +266630,12 @@ majeed syndrome majeed syndrome + + + + MJDS + + @@ -225515,6 +266649,12 @@ visceral neuropathy, familial, 3, autosomal dominant visceral neuropathy, familial, 3, autosomal dominant + + + + VSCN3 + + @@ -225556,6 +266696,12 @@ retinoic acid-inducible gene 1 DDX58 + + + + DDX58 + + @@ -225573,6 +266719,12 @@ major affective disorder 3 major affective disorder 3 + + + + MAFD3 + + @@ -225584,6 +266736,12 @@ migraine, familial hemiplegic, 3 migraine, familial hemiplegic, 3 + + + + FHM3 + + @@ -225624,6 +266782,12 @@ holoprosencephaly 5 holoprosencephaly 5 + + + + HPE5 + + @@ -225635,6 +266799,12 @@ lethal acantholytic epidermolysis bullosa epidermolysis bullosa, lethal acantholytic + + + + EBLA + + @@ -225692,6 +266862,12 @@ kiaa1596 FANCM + + + + FANCM + + @@ -225715,6 +266891,12 @@ deafness, autosomal recessive 42 deafness, autosomal recessive 42 + + + + DFNB42 + + @@ -225732,6 +266914,12 @@ deafness, autosomal recessive 46 deafness, autosomal recessive 46 + + + + DFNB46 + + @@ -225759,6 +266947,12 @@ NLRP12 + + + + NLRP12 + + @@ -225777,6 +266971,12 @@ tricholemmal cyst trichilemmal cyst 1 + + + + TRICY1 + + @@ -225806,6 +267006,12 @@ NDUFAF2 + + + + NDUFAF2 + + @@ -225881,6 +267087,12 @@ NLRP5 + + + + NLRP5 + + @@ -225907,6 +267119,12 @@ NLRP7 + + + + NLRP7 + + @@ -225932,6 +267150,12 @@ WDR36 + + + + WDR36 + + @@ -225974,6 +267198,12 @@ STEAP3 + + + + STEAP3 + + @@ -226003,6 +267233,12 @@ slit- and ntrk-like family, member 1 SLITRK1 + + + + SLITRK1 + + @@ -226026,6 +267262,12 @@ SLITRK6 + + + + SLITRK6 + + @@ -226051,6 +267293,12 @@ DCLRE1B + + + + DCLRE1B + + @@ -226076,6 +267324,12 @@ CEP250 + + + + CEP250 + + @@ -226102,6 +267356,12 @@ FARSB + + + + FARSB + + @@ -226127,6 +267387,12 @@ FHOD3 + + + + FHOD3 + + @@ -226156,6 +267422,12 @@ HPD HPD + + + + HPD + + @@ -226180,6 +267452,12 @@ thyroid hormone metabolism, abnormal, 1 thyroid hormone metabolism, abnormal, 1 + + + + THMA1 + + @@ -226210,6 +267488,12 @@ n-acetylglucosaminidase, alpha- NAGLU + + + + NAGLU + + @@ -226237,6 +267521,12 @@ PSMG2 + + + + PSMG2 + + @@ -226248,6 +267538,12 @@ deafness, autosomal recessive 53 deafness, autosomal recessive 53 + + + + DFNB53 + + @@ -226276,6 +267572,12 @@ lipoprotein lipase LPL + + + + LPL + + @@ -226308,6 +267610,12 @@ pyruvate kinase, red cell type PKLR + + + + PKLR + + @@ -226337,6 +267645,12 @@ crumbs, drosophila, homolog of, 2 CRB2 + + + + CRB2 + + @@ -226360,6 +267674,12 @@ PKD1L1 + + + + PKD1L1 + + @@ -226377,6 +267697,12 @@ spastic paraplegia 29, autosomal dominant spastic paraplegia 29, autosomal dominant + + + + SPG29 + + @@ -226407,6 +267733,12 @@ mitochondrial metrs MARS2 + + + + MARS2 + + @@ -226418,6 +267750,12 @@ proopiomelanocortin deficiency obesity, early-onset, with adrenal insufficiency and red hair + + + + OBAIRH + + @@ -226446,6 +267784,12 @@ CCDC88A + + + + CCDC88A + + @@ -226469,6 +267813,12 @@ ILDR1 + + + + ILDR1 + + @@ -226493,6 +267843,12 @@ cataract, congenital nuclear, autosomal recessive 2 cataract 22, multiple types + + + + CTRCT22 + + @@ -226520,6 +267876,12 @@ CADM3 + + + + CADM3 + + @@ -226536,6 +267898,12 @@ glaucoma 1, open angle, 1 glaucoma 1, open angle, 1 + + + + GLC1I + + @@ -226554,6 +267922,12 @@ epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 epilepsy, idiopathic generalized, susceptibility to, 4 + + + + EIG4 + + @@ -226586,6 +267960,12 @@ palmitoyl-coa oxidase ACOX1 + + + + ACOX1 + + @@ -226616,6 +267996,12 @@ gluten-sensitive enteropathy, susceptibility to, 4 celiac disease, susceptibility to, 4 + + + + CELIAC4 + + @@ -226634,6 +268020,12 @@ gluten-sensitive enteropathy, susceptibility to, 2 celiac disease, susceptibility to, 2 + + + + CELIAC2 + + @@ -226646,6 +268038,12 @@ gluten-sensitive enteropathy, susceptibility to, 3 celiac disease, susceptibility to, 3 + + + + CELIAC3 + + @@ -226693,6 +268091,12 @@ TRIOBP + + + + TRIOBP + + @@ -226719,6 +268123,12 @@ BLOC1S3 + + + + BLOC1S3 + + @@ -226745,6 +268155,12 @@ PI4K2A + + + + PI4K2A + + @@ -226771,6 +268187,12 @@ KDM4B + + + + KDM4B + + @@ -226795,6 +268217,12 @@ SDR9C7 + + + + SDR9C7 + + @@ -226821,6 +268249,12 @@ aortic aneurysm, familial abdominal, 2 aortic aneurysm, familial abdominal, 2 + + + + AAA2 + + @@ -226845,6 +268279,12 @@ UBAP1 + + + + UBAP1 + + @@ -226887,6 +268327,12 @@ LINGO1 + + + + LINGO1 + + @@ -226912,6 +268358,12 @@ peeling skin syndrome, acral type peeling skin syndrome 2 + + + + PSS2 + + @@ -226942,6 +268394,12 @@ kiaa0699 BICD2 + + + + BICD2 + + @@ -226978,6 +268436,12 @@ nima-related kinase 9 NEK9 + + + + NEK9 + + @@ -227015,6 +268479,12 @@ nima-related kinase 8 NEK8 + + + + NEK8 + + @@ -227033,6 +268503,12 @@ generalized epilepsy with febrile seizures plus, type 4 generalized epilepsy with febrile seizures plus, type 4 + + + + GEFSP4 + + @@ -227057,6 +268533,12 @@ solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 SLC24A5 + + + + SLC24A5 + + @@ -227082,6 +268564,12 @@ CFAP52 + + + + CFAP52 + + @@ -227120,6 +268608,12 @@ uroporphyrinogen 1 synthetase HMBS + + + + HMBS + + @@ -227154,6 +268648,12 @@ maturity-onset diabetes of the young, type 8, with exocrine dysfunction maturity-onset diabetes of the young, type 8, with exocrine dysfunction + + + + MODY8 + + @@ -227177,6 +268677,12 @@ spondylocostal dysostosis 3, autosomal recessive spondylocostal dysostosis 3, autosomal recessive + + + + SCDO3 + + @@ -227190,6 +268696,12 @@ factor h deficiency complement factor h deficiency + + + + CFHD + + @@ -227226,6 +268738,12 @@ erythrocytosis, familial, 3 erythrocytosis, familial, 3 + + + + ECYT3 + + @@ -227250,6 +268768,12 @@ bleeding disorder, platelet-type, 8 bleeding disorder, platelet-type, 8 + + + + BDPLT8 + + @@ -227266,6 +268790,12 @@ stature quantitative trait locus 7 stature quantitative trait locus 7 + + + + STQTL7 + + @@ -227289,6 +268819,12 @@ deafness, autosomal recessive 28 deafness, autosomal recessive 28 + + + + DFNB28 + + @@ -227319,6 +268855,12 @@ parahydroxybenzoate-polyprenyltransferase, mitochondrial COQ2 + + + + COQ2 + + @@ -227343,6 +268885,12 @@ SLC34A3 + + + + SLC34A3 + + @@ -227376,6 +268924,12 @@ MMACHC + + + + MMACHC + + @@ -227405,6 +268959,12 @@ solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 SLC24A4 + + + + SLC24A4 + + @@ -227432,6 +268992,12 @@ EDC3 + + + + EDC3 + + @@ -227455,6 +269021,12 @@ SI + + + + SI + + @@ -227478,6 +269050,12 @@ PPCS + + + + PPCS + + @@ -227508,6 +269086,12 @@ ppat/dpck COASY + + + + COASY + + @@ -227532,6 +269116,12 @@ SPATA16 + + + + SPATA16 + + @@ -227556,6 +269146,12 @@ TMPRSS6 + + + + TMPRSS6 + + @@ -227581,6 +269177,12 @@ TCTN1 + + + + TCTN1 + + @@ -227604,6 +269206,12 @@ spermatogenesis-associated protein 7 SPATA7 + + + + SPATA7 + + @@ -227630,6 +269238,12 @@ ATOH7 + + + + ATOH7 + + @@ -227646,6 +269260,12 @@ bone mineral density quantitative trait locus 6 bone mineral density quantitative trait locus 6 + + + + BMND6 + + @@ -227683,6 +269303,12 @@ mks1 gene MKS1 + + + + MKS1 + + @@ -227737,6 +269363,12 @@ transmembrane protein 67 TMEM67 + + + + TMEM67 + + @@ -227769,6 +269401,12 @@ glaucoma 1, open angle, g glaucoma 1, open angle, g + + + + GLC1G + + @@ -227786,6 +269424,12 @@ leprosy, susceptibility to, 1 leprosy, susceptibility to, 1 + + + + LPRS1 + + @@ -227819,6 +269463,12 @@ RIPPLY2 + + + + RIPPLY2 + + @@ -227844,6 +269494,12 @@ thyrotropin resistance hypothyroidism, congenital, nongoitrous, 3 + + + + CHNG3 + + @@ -227869,6 +269525,12 @@ KREMEN1 + + + + KREMEN1 + + @@ -227894,6 +269556,12 @@ systemic lupus erythematosus, susceptibility to, 5 systemic lupus erythematosus, susceptibility to, 5 + + + + SLEB5 + + @@ -227918,6 +269586,12 @@ MYL9 + + + + MYL9 + + @@ -227929,6 +269603,12 @@ cardiomyopathy, dilated, 1p cardiomyopathy, dilated, 1p + + + + CMD1P + + @@ -227955,6 +269635,12 @@ CFAP91 + + + + CFAP91 + + @@ -227980,6 +269666,12 @@ KAT8 + + + + KAT8 + + @@ -228003,6 +269695,12 @@ retinitis pigmentosa 32 retinitis pigmentosa 32 + + + + RP32 + + @@ -228020,6 +269718,12 @@ cardiomyopathy, dilated, 1q cardiomyopathy, dilated, 1q + + + + CMD1Q + + @@ -228037,6 +269741,12 @@ gallbladder disease 2 gallbladder disease 2 + + + + GBD2 + + @@ -228054,6 +269764,12 @@ gallbladder disease 3 gallbladder disease 3 + + + + GBD3 + + @@ -228078,6 +269794,12 @@ EHBP1 + + + + EHBP1 + + @@ -228101,6 +269823,12 @@ retinitis pigmentosa 31 retinitis pigmentosa 31 + + + + RP31 + + @@ -228123,6 +269851,12 @@ aminoacylase 1 deficiency aminoacylase 1 deficiency + + + + ACY1D + + @@ -228149,6 +269883,12 @@ VPS37A + + + + VPS37A + + @@ -228173,6 +269913,12 @@ CDCA7 + + + + CDCA7 + + @@ -228189,6 +269935,12 @@ systemic lupus erythematosus, susceptibility to, 6 systemic lupus erythematosus, susceptibility to, 6 + + + + SLEB6 + + @@ -228215,6 +269967,12 @@ deafness, autosomal recessive 51 deafness, autosomal recessive 51 + + + + DFNB51 + + @@ -228226,6 +269984,12 @@ noonan syndrome 3 noonan syndrome 3 + + + + NS3 + + @@ -228270,6 +270034,12 @@ deafness, autosomal recessive 47 deafness, autosomal recessive 47 + + + + DFNB47 + + @@ -228295,6 +270065,12 @@ PRORP + + + + PRORP + + @@ -228320,6 +270096,12 @@ RNF216 + + + + RNF216 + + @@ -228337,6 +270119,12 @@ deafness, autosomal recessive 55 deafness, autosomal recessive 55 + + + + DFNB55 + + @@ -228354,6 +270142,12 @@ asperger syndrome, susceptibility to, 4 asperger syndrome, susceptibility to, 4 + + + + ASPG4 + + @@ -228373,6 +270167,12 @@ ggf3 fibromatosis, gingival, 3 + + + + GINGF3 + + @@ -228406,6 +270206,12 @@ deafness, autosomal dominant 53 deafness, autosomal dominant 53 + + + + DFNA53 + + @@ -228430,6 +270236,12 @@ GGN + + + + GGN + + @@ -228441,6 +270253,12 @@ hyperinsulinemic hypoglycemia, familial, 5 hyperinsulinemic hypoglycemia, familial, 5 + + + + HHF5 + + @@ -228452,6 +270270,12 @@ hyperinsulinemic hypoglycemia, familial, 4 hyperinsulinemic hypoglycemia, familial, 4 + + + + HHF4 + + @@ -228477,6 +270301,12 @@ natural killer cell deficiency, familial isolated immunodeficiency 54 + + + + IMD54 + + @@ -228502,6 +270332,12 @@ VPS4A + + + + VPS4A + + @@ -228520,6 +270356,12 @@ panic disorder susceptibility locus, chromosome 4q-related panic disorder 3 + + + + PAND3 + + @@ -228548,6 +270390,12 @@ pyrophosphatase, inorganic, 2 PPA2 + + + + PPA2 + + @@ -228597,6 +270445,12 @@ myopia 11, autosomal dominant myopia 11, autosomal dominant + + + + MYP11 + + @@ -228614,6 +270468,12 @@ myopia 12, autosomal dominant myopia 12, autosomal dominant + + + + MYP12 + + @@ -228637,6 +270497,12 @@ CEP55 + + + + CEP55 + + @@ -228685,6 +270551,12 @@ COL25A1 + + + + COL25A1 + + @@ -228709,6 +270581,12 @@ TNIK + + + + TNIK + + @@ -228756,6 +270634,12 @@ ARSG + + + + ARSG + + @@ -228779,6 +270663,12 @@ ARSK + + + + ARSK + + @@ -228790,6 +270680,12 @@ glutamine synthase deficiency, congenital systemic glutamine deficiency, congenital + + + + GLND + + @@ -228801,6 +270697,12 @@ multiple synostoses syndrome 2 multiple synostoses syndrome 2 + + + + SYNS2 + + @@ -228825,6 +270727,12 @@ cataract, autosomal recessive congenital 2 cataract 18 + + + + CTRCT18 + + @@ -228837,6 +270745,12 @@ hyperinsulinemic hypoglycemia, familial, 7 hyperinsulinemic hypoglycemia, familial, 7 + + + + HHF7 + + @@ -228859,6 +270773,12 @@ This term has one or more labels that end with ', INCLUDED'. retinal cone dystrophy 3a + + + + RCD3A + + @@ -228870,6 +270790,12 @@ voltage-dependent anion channel 4 voltage-dependent anion channel 1 pseudogene 4 + + + + VDAC1P4 + + @@ -228894,6 +270820,12 @@ polymicrogyria, symmetric or asymmetric cortical dysplasia, complex, with other brain malformations 7 + + + + CDCBM7 + + @@ -228918,6 +270850,12 @@ TNPO3 + + + + TNPO3 + + @@ -228942,6 +270880,12 @@ VPS33A + + + + VPS33A + + @@ -228967,6 +270911,12 @@ VPS45 + + + + VPS45 + + @@ -228990,6 +270940,12 @@ CLDN19 + + + + CLDN19 + + @@ -229002,6 +270958,12 @@ pitt-hopkins-like syndrome 1 pitt-hopkins-like syndrome 1 + + + + PTHSL1 + + @@ -229026,6 +270988,12 @@ KCNT2 + + + + KCNT2 + + @@ -229050,6 +271018,12 @@ ALDH5A1 + + + + ALDH5A1 + + @@ -229073,6 +271047,12 @@ corneal dystrophy, congenital stromal corneal dystrophy, congenital stromal + + + + CSCD + + @@ -229098,6 +271078,12 @@ TUBGCP6 + + + + TUBGCP6 + + @@ -229121,6 +271107,12 @@ CC2D1A + + + + CC2D1A + + @@ -229147,6 +271139,12 @@ TECR + + + + TECR + + @@ -229179,6 +271177,12 @@ rpac1 POLR1C + + + + POLR1C + + @@ -229203,6 +271207,12 @@ DNAH7 + + + + DNAH7 + + @@ -229227,6 +271237,12 @@ DNAL1 + + + + DNAL1 + + @@ -229251,6 +271267,12 @@ DNAH17 + + + + DNAH17 + + @@ -229283,6 +271305,12 @@ systemic lupus erythematosus, susceptibility to, 7 systemic lupus erythematosus, susceptibility to, 7 + + + + SLEB7 + + @@ -229299,6 +271327,12 @@ systemic lupus erythematosus, susceptibility to, 8 systemic lupus erythematosus, susceptibility to, 8 + + + + SLEB8 + + @@ -229310,6 +271344,12 @@ polyposis syndrome, hereditary mixed, 2 polyposis syndrome, hereditary mixed, 2 + + + + HMPS2 + + @@ -229327,6 +271367,12 @@ hyperparathyroidism 3 hyperparathyroidism 3 + + + + HRPT3 + + @@ -229353,6 +271399,12 @@ SIAE + + + + SIAE + + @@ -229378,6 +271430,12 @@ teneurin transmembrane protein 3 TENM3 + + + + TENM3 + + @@ -229405,6 +271463,12 @@ TENM4 + + + + TENM4 + + @@ -229429,6 +271493,12 @@ PRMT7 + + + + PRMT7 + + @@ -229452,6 +271522,12 @@ RINT1 + + + + RINT1 + + @@ -229477,6 +271553,12 @@ seizures, pyridoxine-resistant, plp-sensitive pyridoxamine 5-prime-phosphate oxidase deficiency + + + + PNPOD + + @@ -229491,6 +271573,12 @@ This term has one or more labels that end with ', INCLUDED'. microphthalmia/coloboma 3 + + + + MCOPCB3 + + @@ -229503,6 +271591,12 @@ microphthalmia, isolated 2 microphthalmia, isolated 2 + + + + MCOP2 + + @@ -229529,6 +271623,12 @@ DEF6 + + + + DEF6 + + @@ -229553,6 +271653,12 @@ MCM9 + + + + MCM9 + + @@ -229564,6 +271670,12 @@ myopathy, distal, 3 myopathy, distal, 3 + + + + MPD3 + + @@ -229587,6 +271699,12 @@ giant axonal neuropathy 2, autosomal dominant giant axonal neuropathy 2, autosomal dominant + + + + GAN2 + + @@ -229610,6 +271728,12 @@ complement component 7 deficiency complement component 7 deficiency + + + + C7D + + @@ -229636,6 +271760,12 @@ OSGEP + + + + OSGEP + + @@ -229665,6 +271795,12 @@ transmembrane protein 16a ANO1 + + + + ANO1 + + @@ -229690,6 +271826,12 @@ ANO3 + + + + ANO3 + + @@ -229719,6 +271861,12 @@ thrombospondin repeat-containing 1 ADAMTSL4 + + + + ADAMTSL4 + + @@ -229735,6 +271883,12 @@ stature quantitative trait locus 8 stature quantitative trait locus 8 + + + + STQTL8 + + @@ -229748,6 +271902,12 @@ This term has one or more labels that end with ', INCLUDED'. microphthalmia, syndromic 5 + + + + MCOPS5 + + @@ -229784,6 +271944,12 @@ This term has one or more labels that end with ', INCLUDED'. ceroid lipofuscinosis, neuronal, 10 + + + + CLN10 + + @@ -229809,6 +271975,12 @@ CHST11 + + + + CHST11 + + @@ -229838,6 +272010,12 @@ sulfate anion transporter 1 SLC26A1 + + + + SLC26A1 + + @@ -229850,6 +272028,12 @@ progressive external ophthalmoplegia, autosomal dominant 4 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 + + + + PEOA4 + + @@ -229881,6 +272065,12 @@ vangl planar cell polarity protein 1 VANGL1 + + + + VANGL1 + + @@ -229964,6 +272154,12 @@ nephrocystin 6 CEP290 + + + + CEP290 + + @@ -229981,6 +272177,12 @@ deafness, autosomal recessive 62 deafness, autosomal recessive 62 + + + + DFNB62 + + @@ -230006,6 +272208,12 @@ BBS10 + + + + BBS10 + + @@ -230020,6 +272228,12 @@ This term has one or more labels that end with ', INCLUDED'. macular degeneration, age-related, 7 + + + + ARMD7 + + @@ -230046,6 +272260,12 @@ CCT5 + + + + CCT5 + + @@ -230069,6 +272289,12 @@ deafness, autosomal recessive 49 deafness, autosomal recessive 49 + + + + DFNB49 + + @@ -230092,6 +272318,12 @@ deafness, autosomal recessive 44 deafness, autosomal recessive 44 + + + + DFNB44 + + @@ -230109,6 +272341,12 @@ type 1 diabetes mellitus 19 type 1 diabetes mellitus 19 + + + + T1D19 + + @@ -230121,6 +272359,12 @@ morm syndrome impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome + + + + MORMS + + @@ -230150,6 +272394,12 @@ fcd1 locus corneal dystrophy, fuchs endothelial, 2 + + + + FECD2 + + @@ -230174,6 +272424,12 @@ CCDC28B + + + + CCDC28B + + @@ -230198,6 +272454,12 @@ immunodeficiency due to defect 1n cd3-zeta immunodeficiency 25 + + + + IMD25 + + @@ -230224,6 +272486,12 @@ IQSEC1 + + + + IQSEC1 + + @@ -230238,6 +272506,12 @@ marfan syndrome, type ii, formerly loeys-dietz syndrome 2 + + + + LDS2 + + @@ -230254,6 +272528,12 @@ kyphoscoliosis 1 kyphoscoliosis 1 + + + + KYPSC1 + + @@ -230280,6 +272560,12 @@ SPEF2 + + + + SPEF2 + + @@ -230309,6 +272595,12 @@ talpid 3, chicken, homolog of KIAA0586 + + + + KIAA0586 + + @@ -230332,6 +272624,12 @@ aicardi-goutieres syndrome 2 aicardi-goutieres syndrome 2 + + + + AGS2 + + @@ -230345,6 +272643,12 @@ cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 + + + + CAMRQ2 + + @@ -230356,6 +272660,12 @@ diaphragmatic hernia 3 diaphragmatic hernia 3 + + + + DIH3 + + @@ -230367,6 +272677,12 @@ joubert syndrome 5 joubert syndrome 5 + + + + JBTS5 + + @@ -230378,6 +272694,12 @@ senior-loken syndrome 6 senior-loken syndrome 6 + + + + SLSN6 + + @@ -230403,6 +272725,12 @@ GLIS3 + + + + GLIS3 + + @@ -230415,6 +272743,12 @@ arrhythmogenic right ventricular dysplasia, familial, 10 arrhythmogenic right ventricular dysplasia, familial, 10 + + + + ARVD10 + + @@ -230441,6 +272775,12 @@ B3GALNT2 + + + + B3GALNT2 + + @@ -230469,6 +272809,12 @@ MED25 + + + + MED25 + + @@ -230494,6 +272840,12 @@ mga, type 5 3-methylglutaconic aciduria, type 5 + + + + MGCA5 + + @@ -230517,6 +272869,12 @@ ndh syndrome diabetes mellitus, neonatal, with congenital hypothyroidism + + + + NDH + + @@ -230531,6 +272889,12 @@ cataract, pulverulent, juvenile-onset cataract 21, multiple types + + + + CTRCT21 + + @@ -230543,6 +272907,12 @@ pontocerebellar hypoplasia, type 5 pontocerebellar hypoplasia, type 5 + + + + PCH5 + + @@ -230554,6 +272924,12 @@ alagille syndrome 2 alagille syndrome 2 + + + + ALGS2 + + @@ -230590,6 +272966,12 @@ solute carrier family 4 (sodium borate cotransporter), member 11 SLC4A11 + + + + SLC4A11 + + @@ -230636,6 +273018,12 @@ deafness, autosomal recessive 66 deafness, autosomal recessive 66 + + + + DFNB66 + + @@ -230653,6 +273041,12 @@ aneurysm, intracranial berry, 4 aneurysm, intracranial berry, 4 + + + + ANIB4 + + @@ -230677,6 +273071,12 @@ EDEM3 + + + + EDEM3 + + @@ -230692,6 +273092,12 @@ This term has one or more labels that end with ', INCLUDED'. neurodegeneration with brain iron accumulation 2b + + + + NBIA2B + + @@ -230716,6 +273122,12 @@ PJVK + + + + PJVK + + @@ -230739,6 +273151,12 @@ deafness, autosomal recessive 59 deafness, autosomal recessive 59 + + + + DFNB59 + + @@ -230764,6 +273182,12 @@ RIN2 + + + + RIN2 + + @@ -230794,6 +273218,12 @@ teb2 SOHLH1 + + + + SOHLH1 + + @@ -230818,6 +273248,12 @@ ZNF750 + + + + ZNF750 + + @@ -230869,6 +273305,12 @@ trnt1 TRMU + + + + TRMU + + @@ -230893,6 +273335,12 @@ ATP13A3 + + + + ATP13A3 + + @@ -230918,6 +273366,12 @@ synpolydactyly 3 synpolydactyly 3 + + + + SPD3 + + @@ -230943,6 +273397,12 @@ LNPK + + + + LNPK + + @@ -230970,6 +273430,12 @@ spastic paraplegia 33, autosomal dominant spastic paraplegia 33, autosomal dominant + + + + SPG33 + + @@ -230993,6 +273459,12 @@ spinocerebellar ataxia 23 spinocerebellar ataxia 23 + + + + SCA23 + + @@ -231004,6 +273476,12 @@ spinocerebellar ataxia 28 spinocerebellar ataxia 28 + + + + SCA28 + + @@ -231021,6 +273499,12 @@ esophagitis, eosinophilic, 1 esophagitis, eosinophilic, 1 + + + + EOE1 + + @@ -231038,6 +273522,12 @@ deafness, autosomal recessive 65 deafness, autosomal recessive 65 + + + + DFNB65 + + @@ -231049,6 +273539,12 @@ spastic paraplegia 31, autosomal dominant spastic paraplegia 31, autosomal dominant + + + + SPG31 + + @@ -231087,6 +273583,12 @@ kleefstra syndrome 1 kleefstra syndrome 1 + + + + KLEFS1 + + @@ -231100,6 +273602,12 @@ cpa anterior segment dysgenesis 2 + + + + ASGD2 + + @@ -231126,6 +273634,12 @@ SEC31A + + + + SEC31A + + @@ -231143,6 +273657,12 @@ pyloric stenosis, infantile hypertrophic, 2 pyloric stenosis, infantile hypertrophic, 2 + + + + IHPS2 + + @@ -231213,6 +273733,12 @@ DNAJB13 + + + + DNAJB13 + + @@ -231236,6 +273762,12 @@ deafness, autosomal recessive 67 deafness, autosomal recessive 67 + + + + DFNB67 + + @@ -231263,6 +273795,12 @@ TAOK1 + + + + TAOK1 + + @@ -231296,6 +273834,12 @@ PIGS + + + + PIGS + + @@ -231325,6 +273869,12 @@ phosphatidylinositol glycan anchor biosynthesis class t protein PIGT + + + + PIGT + + @@ -231349,6 +273899,12 @@ PIGM + + + + PIGM + + @@ -231372,6 +273928,12 @@ PIGV + + + + PIGV + + @@ -231395,6 +273957,12 @@ PIGW + + + + PIGW + + @@ -231425,6 +273993,12 @@ transmembrane protein 142a ORAI1 + + + + ORAI1 + + @@ -231445,6 +274019,12 @@ retinitis pigmentosa 35 retinitis pigmentosa 35 + + + + RP35 + + @@ -231456,6 +274036,12 @@ cone-rod dystrophy 10 cone-rod dystrophy 10 + + + + CORD10 + + @@ -231479,6 +274065,12 @@ LIPT1 + + + + LIPT1 + + @@ -231508,6 +274100,12 @@ downstream of tyrosine kinase 7 DOK7 + + + + DOK7 + + @@ -231532,6 +274130,12 @@ GALNT12 + + + + GALNT12 + + @@ -231556,6 +274160,12 @@ portal hypertension with seizures and/or macrocephaly glycosylphosphatidylinositol biosynthesis defect 1 + + + + GPIBD1 + + @@ -231599,6 +274209,12 @@ parkinson disease 13, autosomal dominant, susceptibility to parkinson disease 13, autosomal dominant, susceptibility to + + + + PARK13 + + @@ -231623,6 +274239,12 @@ SLC6A17 + + + + SLC6A17 + + @@ -231648,6 +274270,12 @@ MAFA + + + + MAFA + + @@ -231674,6 +274302,12 @@ B3GLCT + + + + B3GLCT + + @@ -231697,6 +274331,12 @@ crisponi/cold-induced sweating syndrome 2 crisponi/cold-induced sweating syndrome 2 + + + + CISS2 + + @@ -231733,6 +274373,12 @@ polyribonucleotide nucleotidyltransferase 1 PNPT1 + + + + PNPT1 + + @@ -231759,6 +274405,12 @@ myopia 14 myopia 14 + + + + MYP14 + + @@ -231776,6 +274428,12 @@ prostate cancer, hereditary, 7 prostate cancer, hereditary, 7 + + + + HPC7 + + @@ -231801,6 +274459,12 @@ RNASEH2B + + + + RNASEH2B + + @@ -231824,6 +274488,12 @@ aicardi-goutieres syndrome 3 aicardi-goutieres syndrome 3 + + + + AGS3 + + @@ -231849,6 +274519,12 @@ RNASEH2C + + + + RNASEH2C + + @@ -231881,6 +274557,12 @@ aicardi-goutieres syndrome 4 aicardi-goutieres syndrome 4 + + + + AGS4 + + @@ -231918,6 +274600,12 @@ P3H1 + + + + P3H1 + + @@ -231942,6 +274630,12 @@ P3H2 + + + + P3H2 + + @@ -231971,6 +274665,12 @@ multisubstrate lipid kinase AGK + + + + AGK + + @@ -231996,6 +274696,12 @@ SLF2 + + + + SLF2 + + @@ -232023,6 +274729,12 @@ LINS1 + + + + LINS1 + + @@ -232051,6 +274763,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, nocturnal frontal lobe, 4 + + + + ENFL4 + + @@ -232077,6 +274795,12 @@ RIC1 + + + + RIC1 + + @@ -232112,6 +274836,12 @@ partner and localizer of brca2 PALB2 + + + + PALB2 + + @@ -232136,6 +274866,12 @@ retinal cone dystrophy 3b retinal cone dystrophy 3b + + + + RCD3B + + @@ -232148,6 +274884,12 @@ spastic paraplegia 30a, autosomal dominant spastic paraplegia 30a, autosomal dominant + + + + SPG30A + + @@ -232171,6 +274913,12 @@ retinitis pigmentosa 33 retinitis pigmentosa 33 + + + + RP33 + + @@ -232189,6 +274937,12 @@ orofacial cleft 9 orofacial cleft 9 + + + + OFC9 + + @@ -232225,6 +274979,12 @@ retina and anterior neural fold homeobox-like 1 RAX2 + + + + RAX2 + + @@ -232248,6 +275008,12 @@ PADI6 + + + + PADI6 + + @@ -232272,6 +275038,12 @@ enteric anendocrinosis diarrhea 4, malabsorptive, congenital + + + + DIAR4 + + @@ -232282,6 +275054,12 @@ diabetes mellitus, transient neonatal, 2 diabetes mellitus, transient neonatal, 2 + + + + TNDM2 + + @@ -232309,6 +275087,12 @@ ACKR3 + + + + ACKR3 + + @@ -232319,6 +275103,12 @@ mevalonic aciduria mevalonic aciduria + + + + MEVA + + @@ -232349,6 +275139,12 @@ cone-rod dystrophy 11 cone-rod dystrophy 11 + + + + CORD11 + + @@ -232386,6 +275182,12 @@ LAMTOR2 + + + + LAMTOR2 + + @@ -232411,6 +275213,12 @@ MPEG1 + + + + MPEG1 + + @@ -232436,6 +275244,12 @@ TRAPPC6B + + + + TRAPPC6B + + @@ -232469,6 +275283,12 @@ deafness, autosomal recessive 68 deafness, autosomal recessive 68 + + + + DFNB68 + + @@ -232502,6 +275322,12 @@ alopecia-mental retardation syndrome 2 alopecia-intellectual disability syndrome 2 + + + + APMR2 + + @@ -232526,6 +275352,12 @@ PACS2 + + + + PACS2 + + @@ -232563,6 +275395,12 @@ cataract 23, multiple types, with or without microcornea cataract 23, multiple types + + + + CTRCT23 + + @@ -232596,6 +275434,12 @@ night blindness, congenital stationary, type 2b, formerly cone-rod synaptic disorder, congenital nonprogressive + + + + CRSD + + @@ -232613,6 +275457,12 @@ macroglobulinemia, waldenstrom, susceptibility to, 2 macroglobulinemia, waldenstrom, susceptibility to, 2 + + + + WM2 + + @@ -232637,6 +275487,12 @@ RNF125 + + + + RNF125 + + @@ -232660,6 +275516,12 @@ RTTN + + + + RTTN + + @@ -232677,6 +275539,12 @@ restless legs syndrome, susceptibility to, 3 restless legs syndrome, susceptibility to, 3 + + + + RLS3 + + @@ -232694,6 +275562,12 @@ restless legs syndrome, susceptibility to, 4 restless legs syndrome, susceptibility to, 4 + + + + RLS4 + + @@ -232727,6 +275601,12 @@ spondyloepimetaphyseal dysplasia, genevieve type spondyloepimetaphyseal dysplasia, genevieve type + + + + SEMDG + + @@ -232752,6 +275632,12 @@ microdeletion 17q21.31 syndrome koolen-de vries syndrome + + + + KDVS + + @@ -232764,6 +275650,12 @@ night blindness, congenital stationary, nougaret type night blindness, congenital stationary, autosomal dominant 3 + + + + CSNBAD3 + + @@ -232776,6 +275668,12 @@ night blindness, congenital stationary, rhodopsin-related night blindness, congenital stationary, autosomal dominant 1 + + + + CSNBAD1 + + @@ -232797,6 +275695,12 @@ chilblain lupus 1 chilblain lupus 1 + + + + CHBL1 + + @@ -232835,6 +275739,12 @@ transmembrane protein 76 HGSNAT + + + + HGSNAT + + @@ -232846,6 +275756,12 @@ tumoral calcinosis, normophosphatemic, familial tumoral calcinosis, normophosphatemic, familial + + + + NFTC + + @@ -232880,6 +275796,12 @@ sterile alpha motif domain-containing protein 9 SAMD9 + + + + SAMD9 + + @@ -232905,6 +275827,12 @@ SMPD4 + + + + SMPD4 + + @@ -232930,6 +275858,12 @@ tpmt deficiency thiopurines, poor metabolism of, 1 + + + + THPM1 + + @@ -232961,6 +275895,12 @@ nus1 dehydrodolichyl diphosphate synthase subunit NUS1 + + + + NUS1 + + @@ -232985,6 +275925,12 @@ GPR156 + + + + GPR156 + + @@ -233009,6 +275955,12 @@ HACD1 + + + + HACD1 + + @@ -233020,6 +275972,12 @@ catshl syndrome camptodactyly, tall stature, and hearing loss syndrome + + + + CATSHLS + + @@ -233045,6 +276003,12 @@ pigmented nodular adrenocortical disease, primary, 2 pigmented nodular adrenocortical disease, primary, 2 + + + + PPNAD2 + + @@ -233059,6 +276023,12 @@ This term has one or more labels that end with ', INCLUDED'. arrhythmogenic right ventricular dysplasia, familial, 11 + + + + ARVD11 + + @@ -233081,6 +276051,12 @@ retinal cone dystrophy 4 retinal cone dystrophy 4 + + + + RCD4 + + @@ -233104,6 +276080,12 @@ pigmented nodular adrenocortical disease, primary, 1 pigmented nodular adrenocortical disease, primary, 1 + + + + PPNAD1 + + @@ -233128,6 +276110,12 @@ corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis combined oxidative phosphorylation deficiency 2 + + + + COXPD2 + + @@ -233152,6 +276140,12 @@ RTN4IP1 + + + + RTN4IP1 + + @@ -233162,6 +276156,12 @@ preterm premature rupture of the membranes preterm premature rupture of the membranes + + + + PPROM + + @@ -233187,6 +276187,12 @@ encephalomyopathy, respiratory failure, and lactic acidosis combined oxidative phosphorylation deficiency 3 + + + + COXPD3 + + @@ -233209,6 +276215,12 @@ maturity-onset diabetes of the young, type 7 maturity-onset diabetes of the young, type 7 + + + + MODY7 + + @@ -233233,6 +276245,12 @@ SEC23A + + + + SEC23A + + @@ -233262,6 +276280,12 @@ sec23, s. cerevisiae, homolog of, B SEC23B + + + + SEC23B + + @@ -233290,6 +276314,12 @@ atpase 13a2 ATP13A2 + + + + ATP13A2 + + @@ -233316,6 +276346,12 @@ GLYCTK + + + + GLYCTK + + @@ -233340,6 +276376,12 @@ CEP41 + + + + CEP41 + + @@ -233365,6 +276407,12 @@ CHD8 + + + + CHD8 + + @@ -233390,6 +276438,12 @@ hyccin, pi4ka lipid kinase complex, subunit 1 HYCC1 + + + + HYCC1 + + @@ -233408,6 +276462,12 @@ leukodystrophy, hypomyelinating, 5 leukodystrophy, hypomyelinating, 5 + + + + HLD5 + + @@ -233434,6 +276494,12 @@ WWC1 + + + + WWC1 + + @@ -233459,6 +276525,12 @@ DCPS + + + + DCPS + + @@ -233475,6 +276547,12 @@ glaucoma 1, open angle, m glaucoma 1, open angle, m + + + + GLC1M + + @@ -233499,6 +276577,12 @@ mandibulofacial dysostosis, guion-almeida type mandibulofacial dysostosis, guion-almeida type + + + + MFDGA + + @@ -233524,6 +276608,12 @@ UBE2T + + + + UBE2T + + @@ -233535,6 +276625,12 @@ saposin c deficiency gaucher disease, atypical, due to saposin c deficiency + + + + GDSAPC + + @@ -233562,6 +276658,12 @@ GNASAS1 + + + + GNASAS1 + + @@ -233587,6 +276689,12 @@ myasthenic syndrome, congenital, with tubular aggregates 1 myasthenic syndrome, congenital, 12 + + + + CMS12 + + @@ -233642,6 +276750,12 @@ sams, liver-specific MAT1A + + + + MAT1A + + @@ -233666,6 +276780,12 @@ herpes simplex encephalitis, susceptibility to, 1 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 + + + + IIAE1 + + @@ -233695,6 +276815,12 @@ ubiquitin-like modifier-activating enzyme 5 UBA5 + + + + UBA5 + + @@ -233718,6 +276844,12 @@ UFM1 + + + + UFM1 + + @@ -233742,6 +276874,12 @@ UFC1 + + + + UFC1 + + @@ -233768,6 +276906,12 @@ PDSS2 + + + + PDSS2 + + @@ -233792,6 +276936,12 @@ DNAL4 + + + + DNAL4 + + @@ -233818,6 +276968,12 @@ ZNF687 + + + + ZNF687 + + @@ -233843,6 +276999,12 @@ MARVELD2 + + + + MARVELD2 + + @@ -233868,6 +277030,12 @@ RSPO4 + + + + RSPO4 + + @@ -233898,6 +277066,12 @@ r-spondin family, member 2 RSPO2 + + + + RSPO2 + + @@ -233934,6 +277108,12 @@ FNIP1 + + + + FNIP1 + + @@ -233961,6 +277141,12 @@ FLAD1 + + + + FLAD1 + + @@ -233985,6 +277171,12 @@ PRCD + + + + PRCD + + @@ -234008,6 +277200,12 @@ retinitis pigmentosa 36 retinitis pigmentosa 36 + + + + RP36 + + @@ -234050,6 +277248,12 @@ GINS1 + + + + GINS1 + + @@ -234073,6 +277277,12 @@ leber congenital amaurosis 12 leber congenital amaurosis 12 + + + + LCA12 + + @@ -234103,6 +277313,12 @@ steroid 11-beta-hydroxylase CYP11B1 + + + + CYP11B1 + + @@ -234120,6 +277336,12 @@ hereditary angioedema with normal c1 inhibitor activity angioedema, hereditary, 3 + + + + HAE3 + + @@ -234149,6 +277371,12 @@ hageman factor F12 + + + + F12 + + @@ -234180,6 +277408,12 @@ pdz domain-containing 6 INTU + + + + INTU + + @@ -234204,6 +277438,12 @@ FUZ + + + + FUZ + + @@ -234219,6 +277459,12 @@ This term has one or more labels that end with ', INCLUDED'. cataract 11, multiple types + + + + CTRCT11 + + @@ -234243,6 +277489,12 @@ ADPRHL2 + + + + ADPRHL2 + + @@ -234266,6 +277518,12 @@ A2ML1 + + + + A2ML1 + + @@ -234289,6 +277547,12 @@ hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia + + + + HH4 + + @@ -234312,6 +277576,12 @@ diamond-blackfan anemia 3 diamond-blackfan anemia 3 + + + + DBA3 + + @@ -234352,6 +277622,12 @@ CTHRC1 + + + + CTHRC1 + + @@ -234389,6 +277665,12 @@ NAT8L + + + + NAT8L + + @@ -234416,6 +277698,12 @@ CUX2 + + + + CUX2 + + @@ -234446,6 +277734,12 @@ This term has one or more labels that end with ', INCLUDED'. xeroderma pigmentosum, complementation group B + + + + XPB + + @@ -234474,6 +277768,12 @@ phosphodiesterase 10a PDE10A + + + + PDE10A + + @@ -234491,6 +277791,12 @@ telangiectasia, hereditary hemorrhagic, type 4 telangiectasia, hereditary hemorrhagic, type 4 + + + + HHT4 + + @@ -234521,6 +277827,12 @@ wash complex, subunit 5 WASHC5 + + + + WASHC5 + + @@ -234545,6 +277857,12 @@ NGLY1 + + + + NGLY1 + + @@ -234568,6 +277886,12 @@ PIGY + + + + PIGY + + @@ -234591,6 +277915,12 @@ CYP2U1 + + + + CYP2U1 + + @@ -234616,6 +277946,12 @@ NACC1 + + + + NACC1 + + @@ -234633,6 +277969,12 @@ autism, susceptibility to, 7 autism, susceptibility to, 7 + + + + AUTS7 + + @@ -234656,6 +277998,12 @@ combined oxidative phosphorylation deficiency 4 combined oxidative phosphorylation deficiency 4 + + + + COXPD4 + + @@ -234690,6 +278038,12 @@ PFKM + + + + PFKM + + @@ -234715,6 +278069,12 @@ osteogenesis imperfecta, type iib, formerly osteogenesis imperfecta, type 7 + + + + OI7 + + @@ -234740,6 +278100,12 @@ BBS12 + + + + BBS12 + + @@ -234756,6 +278122,12 @@ split-hand/foot malformation with long bone deficiency 2 split-hand/foot malformation with long bone deficiency 2 + + + + SHFLD2 + + @@ -234779,6 +278151,12 @@ nemaline myopathy 7 nemaline myopathy 7 + + + + NEM7 + + @@ -234790,6 +278168,12 @@ joubert syndrome 6 joubert syndrome 6 + + + + JBTS6 + + @@ -234815,6 +278199,12 @@ HIBCH + + + + HIBCH + + @@ -234840,6 +278230,12 @@ HYLS1 + + + + HYLS1 + + @@ -234851,6 +278247,12 @@ macular degeneration, age-related, 4 macular degeneration, age-related, 4 + + + + ARMD4 + + @@ -234891,6 +278293,12 @@ psoriasis 8, susceptibility to psoriasis 8, susceptibility to + + + + PSORS8 + + @@ -234902,6 +278310,12 @@ optic atrophy 5 optic atrophy 5 + + + + OPA5 + + @@ -234914,6 +278328,12 @@ This term has one or more labels that end with ', INCLUDED'. brachydactyly-syndactyly syndrome + + + + BDSD + + @@ -234937,6 +278357,12 @@ neutral lipid storage disease without ichthyosis neutral lipid storage disease with myopathy + + + + NLSDM + + @@ -234969,6 +278395,12 @@ nephrotic syndrome, type 3 nephrotic syndrome, type 3 + + + + NPHS3 + + @@ -234993,6 +278425,12 @@ TTC12 + + + + TTC12 + + @@ -235004,6 +278442,12 @@ noonan syndrome 4 noonan syndrome 4 + + + + NS4 + + @@ -235029,6 +278473,12 @@ neutropenia, severe congenital, 3, autosomal recessive neutropenia, severe congenital, 3, autosomal recessive + + + + SCN3 + + @@ -235054,6 +278504,12 @@ TNRC6A + + + + TNRC6A + + @@ -235078,6 +278534,12 @@ TNRC6B + + + + TNRC6B + + @@ -235091,6 +278553,12 @@ spinocerebellar ataxia, autosomal recessive 8 spinocerebellar ataxia, autosomal recessive 8 + + + + SCAR8 + + @@ -235122,6 +278590,12 @@ stimulated by retinoic acid 6 STRA6 + + + + STRA6 + + @@ -235149,6 +278623,12 @@ DOLK + + + + DOLK + + @@ -235166,6 +278646,12 @@ alopecia areata 2 alopecia areata 2 + + + + AA2 + + @@ -235189,6 +278675,12 @@ multiple endocrine neoplasia, type 4 multiple endocrine neoplasia, type 4 + + + + MEN4 + + @@ -235200,6 +278692,12 @@ cerebrooculofacioskeletal syndrome 2 cerebrooculofacioskeletal syndrome 2 + + + + COFS2 + + @@ -235223,6 +278721,12 @@ cerebrooculofacioskeletal syndrome 4 cerebrooculofacioskeletal syndrome 4 + + + + COFS4 + + @@ -235246,6 +278750,12 @@ cornelia lange lange syndrome 3 with or without midline brain defects cornelia lange lange syndrome 3 with or without midline brain defects + + + + CDLS3 + + @@ -235300,6 +278810,12 @@ high density lipoprotein cholesterol level quantitative trait locus 6 high density lipoprotein cholesterol level quantitative trait locus 6 + + + + HDLCQ6 + + @@ -235332,6 +278848,12 @@ tspo-associated protein 1 TSPOAP1 + + + + TSPOAP1 + + @@ -235365,6 +278887,12 @@ MNS1 + + + + MNS1 + + @@ -235389,6 +278917,12 @@ ATG16L1 + + + + ATG16L1 + + @@ -235415,6 +278949,12 @@ dolichol kinase deficiency congenital disorder of glycosylation, type im + + + + CDG1M + + @@ -235438,6 +278978,12 @@ CHD5 + + + + CHD5 + + @@ -235461,6 +279007,12 @@ neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis mitochondrial phosphate carrier deficiency + + + + MPCD + + @@ -235489,6 +279041,12 @@ CNPY3 + + + + CNPY3 + + @@ -235515,6 +279073,12 @@ SLC35B2 + + + + SLC35B2 + + @@ -235577,6 +279141,12 @@ SLC41A1 + + + + SLC41A1 + + @@ -235602,6 +279172,12 @@ SLC35D1 + + + + SLC35D1 + + @@ -235614,6 +279190,12 @@ renal hypodysplasia, nonsyndromic, 1 congenital anomalies of kidney and urinary tract 1 + + + + CAKUT1 + + @@ -235639,6 +279221,12 @@ HYDIN + + + + HYDIN + + @@ -235680,6 +279268,12 @@ SLC25A38 + + + + SLC25A38 + + @@ -235703,6 +279297,12 @@ SLC25A42 + + + + SLC25A42 + + @@ -235731,6 +279331,12 @@ solute carrier family 25, member 46 SLC25A46 + + + + SLC25A46 + + @@ -235757,6 +279363,12 @@ ZNF335 + + + + ZNF335 + + @@ -235768,6 +279380,12 @@ holoprosencephaly 7 holoprosencephaly 7 + + + + HPE7 + + @@ -235781,6 +279399,12 @@ pituitary anomalies with holoprosencephaly-like features holoprosencephaly 9 + + + + HPE9 + + @@ -235801,6 +279425,12 @@ fanconi anemia, complementation group n fanconi anemia, complementation group n + + + + FANCN + + @@ -235826,6 +279456,12 @@ NAA20 + + + + NAA20 + + @@ -235843,6 +279479,12 @@ autism, susceptibility to, 11 autism, susceptibility to, 11 + + + + AUTS11 + + @@ -235860,6 +279502,12 @@ autism, susceptibility to, 12 autism, susceptibility to, 12 + + + + AUTS12 + + @@ -235877,6 +279525,12 @@ osteoarthritis, generalized, without dysplasia osteoarthritis susceptibility 4 + + + + OS4 + + @@ -235890,6 +279544,12 @@ myxomatous mitral valve prolapse 3 mitral valve prolapse 3 + + + + MVP3 + + @@ -235937,6 +279597,12 @@ spg11 vesicle trafficking associated, spatacsin SPG11 + + + + SPG11 + + @@ -235960,6 +279626,12 @@ ciliary dyskinesia, primary, 6 ciliary dyskinesia, primary, 6 + + + + CILD6 + + @@ -235993,6 +279665,12 @@ ANKRD26 + + + + ANKRD26 + + @@ -236017,6 +279695,12 @@ CARMIL2 + + + + CARMIL2 + + @@ -236040,6 +279724,12 @@ glycogen debrancher enzyme AGL + + + + AGL + + @@ -236064,6 +279754,12 @@ GNB4 + + + + GNB4 + + @@ -236093,6 +279789,12 @@ FLVCR2 + + + + FLVCR2 + + @@ -236121,6 +279823,12 @@ menarche, age at, quantitative trait locus 1 menarche, age at, quantitative trait locus 1 + + + + MENAQ1 + + @@ -236145,6 +279853,12 @@ HACE1 + + + + HACE1 + + @@ -236168,6 +279882,12 @@ vesicoureteral reflux 2 vesicoureteral reflux 2 + + + + VUR2 + + @@ -236195,6 +279915,12 @@ KMT5B + + + + KMT5B + + @@ -236212,6 +279938,12 @@ potocki-lupski syndrome potocki-lupski syndrome + + + + PTLS + + @@ -236235,6 +279967,12 @@ branchiootorenal syndrome 2 branchiootorenal syndrome 2 + + + + BOR2 + + @@ -236262,6 +280000,12 @@ CHMP4B + + + + CHMP4B + + @@ -236279,6 +280023,12 @@ supranuclear palsy, progressive, 3 supranuclear palsy, progressive, 3 + + + + PSNP3 + + @@ -236310,6 +280060,12 @@ vacuolar protein sorting 22, s. cerevisiae, homolog of SNF8 + + + + SNF8 + + @@ -236353,6 +280109,12 @@ autism, susceptibility to, 13 autism, susceptibility to, 13 + + + + AUTS13 + + @@ -236390,6 +280152,12 @@ ARHGAP31 + + + + ARHGAP31 + + @@ -236413,6 +280181,12 @@ AMTN + + + + AMTN + + @@ -236439,6 +280213,12 @@ surfactant metabolism dysfunction, pulmonary, 2 surfactant metabolism dysfunction, pulmonary, 2 + + + + SMDP2 + + @@ -236463,6 +280243,12 @@ osteogenesis imperfecta, type 8 osteogenesis imperfecta, type 8 + + + + OI8 + + @@ -236490,6 +280276,12 @@ NSUN2 + + + + NSUN2 + + @@ -236514,6 +280306,12 @@ RAB34 + + + + RAB34 + + @@ -236539,6 +280337,12 @@ surfactant metabolism dysfunction, pulmonary, 3 surfactant metabolism dysfunction, pulmonary, 3 + + + + SMDP3 + + @@ -236566,6 +280370,12 @@ RBCK1 + + + + RBCK1 + + @@ -236590,6 +280400,12 @@ IL17RC + + + + IL17RC + + @@ -236609,6 +280425,12 @@ tooth agenesis, selective, 5 tooth agenesis, selective, 5 + + + + STHAG5 + + @@ -236619,6 +280441,12 @@ systemic lupus erythematosus, susceptibility to, 9 systemic lupus erythematosus, susceptibility to, 9 + + + + SLEB9 + + @@ -236643,6 +280471,12 @@ SOX17 + + + + SOX17 + + @@ -236667,6 +280501,12 @@ ZFAT1 + + + + ZFAT1 + + @@ -236692,6 +280532,12 @@ LRSAM1 + + + + LRSAM1 + + @@ -236716,6 +280562,12 @@ NOBOX + + + + NOBOX + + @@ -236746,6 +280598,12 @@ psat PSAT1 + + + + PSAT1 + + @@ -236782,6 +280640,12 @@ rpgrip1-like RPGRIP1L + + + + RPGRIP1L + + @@ -236792,6 +280656,12 @@ coronary heart disease, susceptibility to, 7 coronary heart disease, susceptibility to, 7 + + + + CHDS7 + + @@ -236817,6 +280687,12 @@ MIR204 + + + + MIR204 + + @@ -236827,6 +280703,12 @@ coronary artery disease, autosomal dominant 2 coronary artery disease, autosomal dominant 2 + + + + ADCAD2 + + @@ -236866,6 +280748,12 @@ SYT14 + + + + SYT14 + + @@ -236877,6 +280765,12 @@ ceroid lipofuscinosis, neuronal, 7 ceroid lipofuscinosis, neuronal, 7 + + + + CLN7 + + @@ -236889,6 +280783,12 @@ pitt-hopkins syndrome pitt-hopkins syndrome + + + + PTHS + + @@ -236914,6 +280814,12 @@ DARS2 + + + + DARS2 + + @@ -236939,6 +280845,12 @@ YARS2 + + + + YARS2 + + @@ -236950,6 +280862,12 @@ xpf-ercc1 progeroid syndrome xfe progeroid syndrome + + + + XFEPS + + @@ -236981,6 +280899,12 @@ fto alpha-ketoglutarate-dependent dioxygenase FTO + + + + FTO + + @@ -237005,6 +280929,12 @@ osteogenesis imperfecta, type 5 osteogenesis imperfecta, type 5 + + + + OI5 + + @@ -237017,6 +280947,12 @@ osteogenesis imperfecta, type 11 osteogenesis imperfecta, type 11 + + + + OI11 + + @@ -237040,6 +280976,12 @@ TRAPPC2L + + + + TRAPPC2L + + @@ -237064,6 +281006,12 @@ TRAPPC4 + + + + TRAPPC4 + + @@ -237075,6 +281023,12 @@ choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction + + + + CAHTP + + @@ -237105,6 +281059,12 @@ inverted formin 2 INF2 + + + + INF2 + + @@ -237118,6 +281078,12 @@ complement factor 1 deficiency complement factor 1 deficiency + + + + CFID + + @@ -237141,6 +281107,12 @@ LRRK1 + + + + LRRK1 + + @@ -237153,6 +281125,12 @@ This term has one or more labels that end with ', INCLUDED'. leprosy, susceptibility to, 4 + + + + LPRS4 + + @@ -237177,6 +281155,12 @@ OBSL1 + + + + OBSL1 + + @@ -237188,6 +281172,12 @@ psat deficiency phosphoserine aminotransferase deficiency + + + + PSATD + + @@ -237210,6 +281200,12 @@ prostate cancer, hereditary, 9 prostate cancer, hereditary, 9 + + + + HPC9 + + @@ -237226,6 +281222,12 @@ smoking as a quantitative trait locus 1 smoking as a quantitative trait locus 1 + + + + SQTL1 + + @@ -237242,6 +281244,12 @@ smoking as a quantitative trait locus 2 smoking as a quantitative trait locus 2 + + + + SQTL2 + + @@ -237268,6 +281276,12 @@ ISCA1 + + + + ISCA1 + + @@ -237287,6 +281301,12 @@ ggf4 fibromatosis, gingival, 4 + + + + GINGF4 + + @@ -237303,6 +281323,12 @@ hypertension, essential, susceptibility to, 8 hypertension, essential, susceptibility to, 8 + + + + HYT8 + + @@ -237320,6 +281346,12 @@ autism, susceptibility to, 9 autism, susceptibility to, 9 + + + + AUTS9 + + @@ -237337,6 +281369,12 @@ autism, susceptibility to, 10 autism, susceptibility to, 10 + + + + AUTS10 + + @@ -237360,6 +281398,12 @@ deafness, autosomal recessive 24 deafness, autosomal recessive 24 + + + + DFNB24 + + @@ -237386,6 +281430,12 @@ TRMT5 + + + + TRMT5 + + @@ -237413,6 +281463,12 @@ FA2H + + + + FA2H + + @@ -237432,6 +281488,12 @@ episodic kinesigenic dyskinesia 2 episodic kinesigenic dyskinesia 2 + + + + EKD2 + + @@ -237456,6 +281518,12 @@ solute carrier family 17 (sodium phosphate cotransporter), member 3 SLC17A3 + + + + SLC17A3 + + @@ -237480,6 +281548,12 @@ SLC25A26 + + + + SLC25A26 + + @@ -237504,6 +281578,12 @@ microphthalmia, syndromic 16 microphthalmia, syndromic 16 + + + + MCOPS16 + + @@ -237516,6 +281596,12 @@ microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen microphthalmia, isolated 5 + + + + MCOP5 + + @@ -237541,6 +281627,12 @@ ubiquitous glucose-6-phosphatase catalytic subunit-related protein G6PC3 + + + + G6PC3 + + @@ -237582,6 +281674,12 @@ CCDC50 + + + + CCDC50 + + @@ -237614,6 +281712,12 @@ set1a SETD1A + + + + SETD1A + + @@ -237639,6 +281743,12 @@ RUSC2 + + + + RUSC2 + + @@ -237665,6 +281775,12 @@ SETD1B + + + + SETD1B + + @@ -237705,6 +281821,12 @@ This term has one or more labels that end with ', INCLUDED'. SETBP1 + + + + SETBP1 + + @@ -237729,6 +281851,12 @@ FAM20C + + + + FAM20C + + @@ -237752,6 +281880,12 @@ FAM20A + + + + FAM20A + + @@ -237801,6 +281935,12 @@ PPM1K + + + + PPM1K + + @@ -237814,6 +281954,12 @@ spinal muscular atrophy, distal, autosomal recessive, 4 neuronopathy, distal hereditary motor, autosomal recessive 4 + + + + HMNR4 + + @@ -237856,6 +282002,12 @@ DPH5 + + + + DPH5 + + @@ -237879,6 +282031,12 @@ inflammatory bowel disease (crohn disease) 10 inflammatory bowel disease (crohn disease) 10 + + + + IBD10 + + @@ -237903,6 +282061,12 @@ MIAT + + + + MIAT + + @@ -237926,6 +282090,12 @@ polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy + + + + PMSE + + @@ -237951,6 +282121,12 @@ CCDC65 + + + + CCDC65 + + @@ -237977,6 +282153,12 @@ MTMR14 + + + + MTMR14 + + @@ -237988,6 +282170,12 @@ intellectual developmental disorder, autosomal recessive 12 intellectual developmental disorder, autosomal recessive 12 + + + + MRT12 + + @@ -238012,6 +282200,12 @@ mental retardation, autosomal recessive 5 intellectual developmental disorder, autosomal recessive 5 + + + + MRT5 + + @@ -238024,6 +282218,12 @@ mental retardation, autosomal recessive 6 intellectual developmental disorder, autosomal recessive 6 + + + + MRT6 + + @@ -238050,6 +282250,12 @@ mental retardation, autosomal recessive 7 intellectual developmental disorder, autosomal recessive 7 + + + + MRT7 + + @@ -238079,6 +282285,12 @@ mental retardation, autosomal recessive 9 intellectual developmental disorder, autosomal recessive 9 + + + + MRT9 + + @@ -238099,6 +282311,12 @@ mental retardation, autosomal recessive 20 intellectual developmental disorder, autosomal recessive 10 + + + + MRT10 + + @@ -238117,6 +282335,12 @@ mental retardation, autosomal recessive 11 intellectual developmental disorder, autosomal recessive 11 + + + + MRT11 + + @@ -238133,6 +282357,12 @@ prostate cancer, hereditary, 10 prostate cancer, hereditary, 10 + + + + HPC10 + + @@ -238163,6 +282393,12 @@ pleckstrin homology domain-containing protein, family g, member 5 PLEKHG5 + + + + PLEKHG5 + + @@ -238181,6 +282417,12 @@ deafness-infertility syndrome deafness-infertility syndrome + + + + DIS + + @@ -238204,6 +282446,12 @@ ACAD9 + + + + ACAD9 + + @@ -238228,6 +282476,12 @@ FGD4 + + + + FGD4 + + @@ -238251,6 +282505,12 @@ mitochondrial aspartyl-trna synthetase deficiency leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation + + + + LBSL + + @@ -238269,6 +282529,12 @@ mental retardation, autosomal recessive 4 intellectual developmental disorder, autosomal recessive 4 + + + + MRT4 + + @@ -238313,6 +282579,12 @@ kelch-like 7 KLHL7 + + + + KLHL7 + + @@ -238336,6 +282608,12 @@ EPHA10 + + + + EPHA10 + + @@ -238365,6 +282643,12 @@ mgc33302 MFSD8 + + + + MFSD8 + + @@ -238391,6 +282675,12 @@ mitochondrial complex 1 deficiency, nuclear type 20 mitochondrial complex 1 deficiency, nuclear type 20 + + + + MC1DN20 + + @@ -238402,6 +282692,12 @@ retinitis pigmentosa 37 retinitis pigmentosa 37 + + + + RP37 + + @@ -238416,6 +282712,12 @@ This term has one or more labels that end with ', INCLUDED'. meckel syndrome, type 4 + + + + MKS4 + + @@ -238432,6 +282734,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized, susceptibility to, 13 + + + + EIG13 + + @@ -238448,6 +282756,12 @@ coronary heart disease, susceptibility to, 8 coronary heart disease, susceptibility to, 8 + + + + CHDS8 + + @@ -238476,6 +282790,12 @@ TELO2 + + + + TELO2 + + @@ -238500,6 +282820,12 @@ SLC30A8 + + + + SLC30A8 + + @@ -238524,6 +282850,12 @@ SLC30A10 + + + + SLC30A10 + + @@ -238542,6 +282874,12 @@ paroxysmal nonkinesigenic dyskinesia 2 paroxysmal nonkinesigenic dyskinesia 2 + + + + PNKD2 + + @@ -238566,6 +282904,12 @@ SLC30A7 + + + + SLC30A7 + + @@ -238590,6 +282934,12 @@ ATXN10 + + + + ATXN10 + + @@ -238606,6 +282956,12 @@ alzheimer disease 13 alzheimer disease 13 + + + + AD13 + + @@ -238631,6 +282987,12 @@ XPA + + + + XPA + + @@ -238647,6 +283009,12 @@ alzheimer disease 14 alzheimer disease 14 + + + + AD14 + + @@ -238729,6 +283097,12 @@ sterile alpha motif domain-containing protein 9-like SAMD9L + + + + SAMD9L + + @@ -238752,6 +283126,12 @@ hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility hamamy syndrome + + + + HMMS + + @@ -238778,6 +283158,12 @@ IFT80 + + + + IFT80 + + @@ -238802,6 +283188,12 @@ congenital disorder of glycosylation, type iih congenital disorder of glycosylation, type iih + + + + CDG2H + + @@ -238838,6 +283230,12 @@ piezo-type mechanosensitive ion channel component 1 PIEZO1 + + + + PIEZO1 + + @@ -238856,6 +283254,12 @@ restless legs syndrome, susceptibility to, 6 restless legs syndrome, susceptibility to, 6 + + + + RLS6 + + @@ -238883,6 +283287,12 @@ ANKRD11 + + + + ANKRD11 + + @@ -238909,6 +283319,12 @@ DNAJC5 + + + + DNAJC5 + + @@ -238940,6 +283356,12 @@ kiaa1509 CCDC88C + + + + CCDC88C + + @@ -238965,6 +283387,12 @@ congenital disorder of glycosylation, type iig congenital disorder of glycosylation, type iig + + + + CDG2G + + @@ -238989,6 +283417,12 @@ RELT + + + + RELT + + @@ -239015,6 +283449,12 @@ UNC45A + + + + UNC45A + + @@ -239045,6 +283485,12 @@ unc45, c. elegans, homolog of, B UNC45B + + + + UNC45B + + @@ -239057,6 +283503,12 @@ microphthalmia, syndromic 10 microphthalmia, syndromic 10 + + + + MCOPS10 + + @@ -239085,6 +283537,12 @@ AKT3 + + + + AKT3 + + @@ -239112,6 +283570,12 @@ SUCLG1 + + + + SUCLG1 + + @@ -239125,6 +283589,12 @@ spastic paraplegia 18b, autosomal recessive spastic paraplegia 18b, autosomal recessive + + + + SPG18B + + @@ -239134,9 +283604,15 @@ CMT4J charcot-marie-tooth disease, autosomal recessive, type 4j - charcot-marie-tooth disease, type 4j - charcot-marie-tooth disease, type 4j + charcot-marie-tooth disease, demyelinating, type 4j + charcot-marie-tooth disease, demyelinating, type 4j + + + + CMT4J + + @@ -239161,6 +283637,12 @@ TMEM38B + + + + TMEM38B + + @@ -239178,6 +283660,12 @@ restless legs syndrome, susceptibility to, 5 restless legs syndrome, susceptibility to, 5 + + + + RLS5 + + @@ -239195,6 +283683,12 @@ major affective disorder 4 major affective disorder 4 + + + + MAFD4 + + @@ -239212,6 +283706,12 @@ spastic paraplegia 32, autosomal recessive spastic paraplegia 32, autosomal recessive + + + + SPG32 + + @@ -239246,6 +283746,12 @@ kinesin family member 7 KIF7 + + + + KIF7 + + @@ -239272,6 +283778,12 @@ TDRD7 + + + + TDRD7 + + @@ -239298,6 +283810,12 @@ DOHH + + + + DOHH + + @@ -239322,6 +283840,12 @@ short-rib thoracic dysplasia 2 with or without polydactyly short-rib thoracic dysplasia 2 with or without polydactyly + + + + SRTD2 + + @@ -239348,6 +283872,12 @@ NAPB + + + + NAPB + + @@ -239364,6 +283894,12 @@ glaucoma 1, open angle, n glaucoma 1, open angle, n + + + + GLC1N + + @@ -239374,6 +283910,12 @@ glaucoma 1, open angle, h glaucoma 1, open angle, h + + + + GLC1H + + @@ -239406,6 +283948,12 @@ KIF12 + + + + KIF12 + + @@ -239435,6 +283983,12 @@ kinesin family member 14 KIF14 + + + + KIF14 + + @@ -239460,6 +284014,12 @@ DNMBP + + + + DNMBP + + @@ -239485,6 +284045,12 @@ isobutyryl-coa dehydrogenase deficiency isobutyryl-coa dehydrogenase deficiency + + + + IBDD + + @@ -239497,6 +284063,12 @@ This term has one or more labels that end with ', INCLUDED'. dystonia, focal, task-specific + + + + FTSD + + @@ -239525,6 +284097,12 @@ NHEJ1 + + + + NHEJ1 + + @@ -239554,6 +284132,12 @@ severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency immunodeficiency 124, severe combined + + + + IMD124 + + @@ -239583,6 +284167,12 @@ kelch-like 24 KLHL24 + + + + KLHL24 + + @@ -239606,6 +284196,12 @@ spastic ataxia 2, autosomal recessive spastic ataxia 2, autosomal recessive + + + + SPAX2 + + @@ -239618,6 +284214,12 @@ muscular dystrophy, limb-girdle, type 2l muscular dystrophy, limb-girdle, autosomal recessive 12 + + + + LGMDR12 + + @@ -239629,6 +284231,12 @@ persistent hyperplastic primary vitreous, autosomal dominant persistent hyperplastic primary vitreous, autosomal dominant + + + + PHPVAD + + @@ -239662,6 +284270,12 @@ ARMS2 + + + + ARMS2 + + @@ -239686,6 +284300,12 @@ PIK3R5 + + + + PIK3R5 + + @@ -239711,6 +284331,12 @@ MED12L + + + + MED12L + + @@ -239735,6 +284361,12 @@ DNAJB4 + + + + DNAJB4 + + @@ -239760,6 +284392,12 @@ DNAJB6 + + + + DNAJB6 + + @@ -239786,6 +284424,12 @@ DNAJB11 + + + + DNAJB11 + + @@ -239811,6 +284455,12 @@ INTS1 + + + + INTS1 + + @@ -239835,6 +284485,12 @@ INTS8 + + + + INTS8 + + @@ -239860,6 +284516,12 @@ INTS11 + + + + INTS11 + + @@ -239885,6 +284547,12 @@ TENT5A + + + + TENT5A + + @@ -239909,6 +284577,12 @@ FANCI + + + + FANCI + + @@ -239932,6 +284606,12 @@ atrial septal defect 4 atrial septal defect 4 + + + + ASD4 + + @@ -239949,6 +284629,12 @@ myoclonic epilepsy, juvenile, susceptibility to, 4 myoclonic epilepsy, juvenile, susceptibility to, 4 + + + + EJM4 + + @@ -239973,6 +284659,12 @@ multiple contracture syndrome, israeli bedouin type B lethal congenital contracture syndrome 3 + + + + LCCS3 + + @@ -239985,6 +284677,12 @@ visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, barrett esophagus, and cardiac abnormalities mungan syndrome + + + + MGS + + @@ -239995,6 +284693,12 @@ brachydactyly, type b2 brachydactyly, type b2 + + + + BDB2 + + @@ -240006,6 +284710,12 @@ macular degeneration, age-related, 9 macular degeneration, age-related, 9 + + + + ARMD9 + + @@ -240031,6 +284741,12 @@ DIP2B + + + + DIP2B + + @@ -240049,6 +284765,12 @@ leishmaniasis, visceral, susceptibility to, 2 kala-azar, susceptibility to, 2 + + + + KAZA2 + + @@ -240067,6 +284789,12 @@ leishmaniasis, visceral, susceptibility to, 3 kala-azar, susceptibility to, 3 + + + + KAZA3 + + @@ -240078,6 +284806,12 @@ usher syndrome, type 2d usher syndrome, type 2d + + + + USH2D + + @@ -240128,6 +284862,12 @@ ADNP + + + + ADNP + + @@ -240140,6 +284880,12 @@ spastic ataxia 3, autosomal recessive spastic ataxia 3, autosomal recessive + + + + SPAX3 + + @@ -240163,6 +284909,12 @@ cataract 33, multiple types cataract 33, multiple types + + + + CTRCT33 + + @@ -240188,6 +284940,12 @@ GAS2L2 + + + + GAS2L2 + + @@ -240215,6 +284973,12 @@ cardiomyopathy, dilated, 1w cardiomyopathy, dilated, 1w + + + + CMD1W + + @@ -240241,6 +285005,12 @@ LCA5 + + + + LCA5 + + @@ -240272,6 +285042,12 @@ pink-eyed dilution OCA2 + + + + OCA2 + + @@ -240304,6 +285080,12 @@ rho family-interacting cell polarization regulator 2 RIPOR2 + + + + RIPOR2 + + @@ -240329,6 +285111,12 @@ POLD3 + + + + POLD3 + + @@ -240359,6 +285147,12 @@ swr1, s. cerevisiae, homolog of SRCAP + + + + SRCAP + + @@ -240383,6 +285177,12 @@ CEP135 + + + + CEP135 + + @@ -240422,6 +285222,12 @@ downstream neighbor of son DONSON + + + + DONSON + + @@ -240447,6 +285253,12 @@ TTC21A + + + + TTC21A + + @@ -240470,6 +285282,12 @@ neurofibromatosis type 1-like syndrome legius syndrome + + + + LGSS + + @@ -240493,6 +285311,12 @@ DOCK8 + + + + DOCK8 + + @@ -240520,6 +285344,12 @@ BMS1 + + + + BMS1 + + @@ -240543,6 +285373,12 @@ deafness, autosomal recessive 63 deafness, autosomal recessive 63 + + + + DFNB63 + + @@ -240578,6 +285414,12 @@ tremor, hereditary essential, 3 tremor, hereditary essential, 3 + + + + ETM3 + + @@ -240623,6 +285465,12 @@ This term has one or more labels that end with ', INCLUDED'. GLB1 + + + + GLB1 + + @@ -240646,6 +285494,12 @@ SLC10A7 + + + + SLC10A7 + + @@ -240657,6 +285511,12 @@ gallbladder disease 4 gallbladder disease 4 + + + + GBD4 + + @@ -240687,6 +285547,12 @@ pleckstrin homology domain-containing protein, family m, member 1 PLEKHM1 + + + + PLEKHM1 + + @@ -240704,6 +285570,12 @@ colorectal cancer, susceptibility to, on chromosome 8q24 colorectal cancer, susceptibility to, 2 + + + + CRCS2 + + @@ -240728,6 +285600,12 @@ MBD5 + + + + MBD5 + + @@ -240764,6 +285642,12 @@ ufm1-specific protease 2 UFSP2 + + + + UFSP2 + + @@ -240789,6 +285673,12 @@ YIPF5 + + + + YIPF5 + + @@ -240817,6 +285707,12 @@ synaptonemal complex central element protein 1 SYCE1 + + + + SYCE1 + + @@ -240834,6 +285730,12 @@ macular degeneration, age-related, 10 macular degeneration, age-related, 10 + + + + ARMD10 + + @@ -240871,6 +285773,12 @@ osteopetrosis, infantile malignant 2 osteopetrosis, autosomal recessive 4 + + + + OPTB4 + + @@ -240897,6 +285805,12 @@ CA2 + + + + CA2 + + @@ -240908,6 +285822,12 @@ atrial fibrillation, familial, 4 atrial fibrillation, familial, 4 + + + + ATFB4 + + @@ -240925,6 +285845,12 @@ atrial fibrillation, familial, 5 atrial fibrillation, familial, 5 + + + + ATFB5 + + @@ -240949,6 +285875,12 @@ CYP4F22 + + + + CYP4F22 + + @@ -240972,6 +285904,12 @@ GATA5 + + + + GATA5 + + @@ -240984,6 +285922,12 @@ osteopetrosis, autosomal recessive, intermediate form osteopetrosis, autosomal recessive 6 + + + + OPTB6 + + @@ -241007,6 +285951,12 @@ nephronophthisis 7 nephronophthisis 7 + + + + NPHP7 + + @@ -241030,6 +285980,12 @@ GUSB + + + + GUSB + + @@ -241054,6 +286010,12 @@ CAMTA1 + + + + CAMTA1 + + @@ -241081,6 +286043,12 @@ CISD2 + + + + CISD2 + + @@ -241104,6 +286072,12 @@ CENPT + + + + CENPT + + @@ -241130,6 +286104,12 @@ WLS + + + + WLS + + @@ -241148,6 +286128,12 @@ febrile seizures, familial, 7 febrile seizures, familial, 7 + + + + FEB7 + + @@ -241175,6 +286161,12 @@ tyrosine kinase 2 deficiency immunodeficiency 35 + + + + IMD35 + + @@ -241186,6 +286178,12 @@ intraocular pressure quantitative trait locus intraocular pressure quantitative trait locus + + + + IOPQTL + + @@ -241210,6 +286208,12 @@ pontocerebellar hypoplasia, type 6 pontocerebellar hypoplasia, type 6 + + + + PCH6 + + @@ -241235,6 +286239,12 @@ RARS2 + + + + RARS2 + + @@ -241247,6 +286257,12 @@ arrhythmogenic right ventricular dysplasia, familial, 12 arrhythmogenic right ventricular dysplasia, familial, 12 + + + + ARVD12 + + @@ -241273,6 +286289,12 @@ EMG1 + + + + EMG1 + + @@ -241290,6 +286312,12 @@ major affective disorder 5 major affective disorder 5 + + + + MAFD5 + + @@ -241307,6 +286335,12 @@ major affective disorder 6 major affective disorder 6 + + + + MAFD6 + + @@ -241333,6 +286367,12 @@ CTNNBL1 + + + + CTNNBL1 + + @@ -241358,6 +286398,12 @@ FOXD3 + + + + FOXD3 + + @@ -241381,6 +286427,12 @@ ARSB + + + + ARSB + + @@ -241403,6 +286455,12 @@ cavitary optic disc anomalies cavitary optic disc anomalies + + + + CODA + + @@ -241428,6 +286486,12 @@ cataract, congenital nuclear, autosomal recessive 3 cataract 17, multiple types + + + + CTRCT17 + + @@ -241444,6 +286508,12 @@ stature quantitative trait locus 9 stature quantitative trait locus 9 + + + + STQTL9 + + @@ -241467,6 +286537,12 @@ premature ovarian failure 5 premature ovarian failure 5 + + + + POF5 + + @@ -241495,6 +286571,12 @@ sodium leak channel, nonselective NALCN + + + + NALCN + + @@ -241521,6 +286603,12 @@ NCR3 + + + + NCR3 + + @@ -241532,6 +286620,12 @@ noonan syndrome 5 noonan syndrome 5 + + + + NS5 + + @@ -241543,6 +286637,12 @@ leopard syndrome 2 leopard syndrome 2 + + + + LPRD2 + + @@ -241579,6 +286679,12 @@ muscle glycogen synthase deficiency glycogen storage disease 0, muscle + + + + GSD0B + + @@ -241590,6 +286696,12 @@ joubert syndrome 7 joubert syndrome 7 + + + + JBTS7 + + @@ -241601,6 +286713,12 @@ meckel syndrome, type 5 meckel syndrome, type 5 + + + + MKS5 + + @@ -241625,6 +286743,12 @@ SEPTIN12 + + + + SEPTIN12 + + @@ -241649,6 +286773,12 @@ tweek, drosophila, homolog of BLTP1 + + + + BLTP1 + + @@ -241674,6 +286804,12 @@ FBP1 + + + + FBP1 + + @@ -241691,6 +286827,12 @@ otosclerosis 4 otosclerosis 4 + + + + OTSC4 + + @@ -241708,6 +286850,12 @@ otosclerosis 7 otosclerosis 7 + + + + OTSC7 + + @@ -241732,6 +286880,12 @@ SGMS2 + + + + SGMS2 + + @@ -241758,6 +286912,12 @@ KDM6B + + + + KDM6B + + @@ -241781,6 +286941,12 @@ ws2e, with or without neurologic involvement waardenburg syndrome, type 2e + + + + WS2E + + @@ -241795,6 +286961,12 @@ muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 + + + + MDDGC4 + + @@ -241808,6 +286980,12 @@ This term has one or more labels that end with ', INCLUDED'. renal tubular acidosis, distal, 4, with hemolytic anemia + + + + DRTA4 + + @@ -241838,6 +287016,12 @@ phenylalanyl-trna synthetase 2, mitochondrial FARS2 + + + + FARS2 + + @@ -241864,6 +287048,12 @@ TXNL4A + + + + TXNL4A + + @@ -241887,6 +287077,12 @@ cataract 12, multiple types cataract 12, multiple types + + + + CTRCT12 + + @@ -241907,6 +287103,12 @@ This term has one or more labels that end with ', INCLUDED'. celiac disease, susceptibility to, 6 + + + + CELIAC6 + + @@ -241930,6 +287132,12 @@ lissencephaly 3 lissencephaly 3 + + + + LIS3 + + @@ -241954,6 +287162,12 @@ ERLIN1 + + + + ERLIN1 + + @@ -241984,6 +287198,12 @@ spfh domain-containing protein 2 ERLIN2 + + + + ERLIN2 + + @@ -242009,6 +287229,12 @@ MIR96 + + + + MIR96 + + @@ -242032,6 +287258,12 @@ PGM2L1 + + + + PGM2L1 + + @@ -242057,6 +287289,12 @@ SCAPER + + + + SCAPER + + @@ -242069,6 +287307,12 @@ cardiomyopathy, dilated, with mild or no proximal muscle weakness cardiomyopathy, dilated, 1x + + + + CMD1X + + @@ -242102,6 +287346,12 @@ NECAP1 + + + + NECAP1 + + @@ -242120,6 +287370,12 @@ epilepsy, familial temporal lobe, 3 epilepsy, familial temporal lobe, 3 + + + + ETL3 + + @@ -242138,6 +287394,12 @@ epilepsy, occipitotemporal lobe, and migraine with aura epilepsy, familial temporal lobe, 4 + + + + ETL4 + + @@ -242162,6 +287424,12 @@ UBIAD1 + + + + UBIAD1 + + @@ -242180,6 +287448,12 @@ febrile seizures, familial, 9 febrile seizures, familial, 9 + + + + FEB9 + + @@ -242197,6 +287471,12 @@ primary lateral sclerosis, adult, 1 primary lateral sclerosis, adult, 1 + + + + PLSA1 + + @@ -242208,6 +287488,12 @@ microphthalmia/coloboma 5 microphthalmia/coloboma 5 + + + + MCOPCB5 + + @@ -242238,6 +287524,12 @@ hepatocyte cell adhesion molecule HEPACAM + + + + HEPACAM + + @@ -242255,6 +287547,12 @@ hirschsprung disease, susceptibility to, 9 hirschsprung disease, susceptibility to, 9 + + + + HSCR9 + + @@ -242279,6 +287577,12 @@ ARV1 + + + + ARV1 + + @@ -242305,6 +287609,12 @@ PPIP5K2 + + + + PPIP5K2 + + @@ -242317,6 +287627,12 @@ peripapillary chorioretinal atrophy, beta type peripapillary atrophy, beta type + + + + PPAB + + @@ -242344,6 +287660,12 @@ CSPP1 + + + + CSPP1 + + @@ -242368,6 +287690,12 @@ PGAP1 + + + + PGAP1 + + @@ -242392,6 +287720,12 @@ TBC1D20 + + + + TBC1D20 + + @@ -242405,6 +287739,12 @@ skin/hair/eye pigmentation, variation in, 7 skin/hair/eye pigmentation, variation in, 7 + + + + SHEP7 + + @@ -242432,6 +287772,12 @@ TRMT1 + + + + TRMT1 + + @@ -242457,6 +287803,12 @@ SLC46A1 + + + + SLC46A1 + + @@ -242482,6 +287834,12 @@ KHDC3L + + + + KHDC3L + + @@ -242508,6 +287866,12 @@ CLMP + + + + CLMP + + @@ -242518,6 +287882,12 @@ dystonia with cerebellar atrophy dystonia with cerebellar atrophy + + + + DYTCA + + @@ -242541,6 +287911,12 @@ TTBK2 + + + + TTBK2 + + @@ -242563,6 +287939,12 @@ salih myopathy congenital myopathy 5 with cardiomyopathy + + + + CMYO5 + + @@ -242580,6 +287962,12 @@ migraine with or without aura, susceptibility to, 12 migraine with or without aura, susceptibility to, 12 + + + + MGR12 + + @@ -242611,6 +287999,12 @@ steroid 5-alpha-reductase 3 SRD5A3 + + + + SRD5A3 + + @@ -242640,6 +288034,12 @@ atpase, h+ transporting, lysosomal, v0 subunit a2 ATP6V0A2 + + + + ATP6V0A2 + + @@ -242676,6 +288076,12 @@ hypomagnesemia, renal, normocalciuric hypomagnesemia 4, renal + + + + HOMG4 + + @@ -242687,6 +288093,12 @@ combined oxidative phosphorylation deficiency 5 combined oxidative phosphorylation deficiency 5 + + + + COXPD5 + + @@ -242712,6 +288124,12 @@ IRF2BPL + + + + IRF2BPL + + @@ -242724,6 +288142,12 @@ prosaposin deficiency combined saposin deficiency + + + + PSAPD + + @@ -242735,6 +288159,12 @@ saposin a deficiency krabbe disease, atypical, due to saposin a deficiency + + + + KRBSAPA + + @@ -242762,6 +288192,12 @@ skin/hair/eye pigmentation, variation in, 8 skin/hair/eye pigmentation, variation in, 8 + + + + SHEP8 + + @@ -242785,6 +288221,12 @@ KCTD7 + + + + KCTD7 + + @@ -242810,6 +288252,12 @@ epilepsy, progressive myoclonic, 3, with or without intracellular inclusions epilepsy, progressive myoclonic, 3, with or without intracellular inclusions + + + + EPM3 + + @@ -242833,6 +288281,12 @@ KLC2 + + + + KLC2 + + @@ -242887,6 +288341,12 @@ deleted 1n polyposis 2.5 APC + + + + APC + + @@ -242919,6 +288379,12 @@ bone mineral density quantitative trait locus 7 bone mineral density quantitative trait locus 7 + + + + BMND7 + + @@ -242942,6 +288408,12 @@ osteoporosis, susceptibility to bone mineral density quantitative trait locus 8 + + + + BMND8 + + @@ -242957,6 +288429,12 @@ skin/hair/eye pigmentation, variation in, 9 skin/hair/eye pigmentation, variation in, 9 + + + + SHEP9 + + @@ -242968,6 +288446,12 @@ leber congenital amaurosis 10 leber congenital amaurosis 10 + + + + LCA10 + + @@ -242992,6 +288476,12 @@ LMF1 + + + + LMF1 + + @@ -243015,6 +288505,12 @@ familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome 2 + + + + FCAS2 + + @@ -243042,6 +288538,12 @@ ASPRV1 + + + + ASPRV1 + + @@ -243070,6 +288572,12 @@ mitochondrial methionyl-trna formyltransferase MTFMT + + + + MTFMT + + @@ -243094,6 +288602,12 @@ nk2, drosophila, homolog of, 6 NKX2-6 + + + + NKX2-6 + + @@ -243104,6 +288618,12 @@ lipoprotein glomerulopathy lipoprotein glomerulopathy + + + + LPG + + @@ -243114,6 +288634,12 @@ angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps + + + + HANAC + + @@ -243152,6 +288678,12 @@ NDUFAF4 + + + + NDUFAF4 + + @@ -243175,6 +288707,12 @@ brugada syndrome 2 brugada syndrome 2 + + + + BRGDA2 + + @@ -243199,6 +288737,12 @@ GPD1L + + + + GPD1L + + @@ -243222,6 +288766,12 @@ erythrocytosis, familial, 4 erythrocytosis, familial, 4 + + + + ECYT4 + + @@ -243234,6 +288784,12 @@ familial thoracic aortic aneurysm with livedo reticularis and iris flocculi aortic aneurysm, familial thoracic 6 + + + + AAT6 + + @@ -243260,6 +288816,12 @@ PGAP3 + + + + PGAP3 + + @@ -243286,6 +288848,12 @@ protein 4.1 of erythrocyte membrane, defect of elliptocytosis 1 + + + + EL1 + + @@ -243310,6 +288878,12 @@ ELOVL5 + + + + ELOVL5 + + @@ -243320,6 +288894,12 @@ tremor, hereditary essential, and idiopathic normal pressure hydrocephalus tremor, hereditary essential, and idiopathic normal pressure hydrocephalus + + + + ETINPH + + @@ -243330,6 +288910,12 @@ bestrophinopathy, autosomal recessive bestrophinopathy, autosomal recessive + + + + ARB + + @@ -243341,6 +288927,12 @@ serkal syndrome 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs + + + + SERKAL + + @@ -243365,6 +288957,12 @@ ELOVL1 + + + + ELOVL1 + + @@ -243376,6 +288974,12 @@ temple-baraitser syndrome temple-baraitser syndrome + + + + TMBTS + + @@ -243390,6 +288994,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 9 + + + + LQT9 + + @@ -243404,6 +289014,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 10 + + + + LQT10 + + @@ -243427,6 +289043,12 @@ long qt syndrome 11 long qt syndrome 11 + + + + LQT11 + + @@ -243451,6 +289073,12 @@ MRPL39 + + + + MRPL39 + + @@ -243474,6 +289102,12 @@ MRPL44 + + + + MRPL44 + + @@ -243493,6 +289127,12 @@ white blood cell count quantitative trait locus 1 white blood cell count quantitative trait locus 1 + + + + WBCQ1 + + @@ -243546,6 +289186,12 @@ prostate cancer, hereditary, 12 prostate cancer, hereditary, 12 + + + + HPC12 + + @@ -243557,6 +289203,12 @@ brugada syndrome 3 brugada syndrome 3 + + + + BRGDA3 + + @@ -243580,6 +289232,12 @@ brugada syndrome 4 brugada syndrome 4 + + + + BRGDA4 + + @@ -243594,6 +289252,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, dilated, 1y + + + + CMD1Y + + @@ -243605,6 +289269,12 @@ cardiomyopathy, dilated, 1z cardiomyopathy, dilated, 1z + + + + CMD1Z + + @@ -243618,6 +289288,12 @@ cardiomyopathy, dilated, autosomal recessive cardiomyopathy, dilated, 2a + + + + CMD2A + + @@ -243646,6 +289322,12 @@ red cell aldolase deficiency glycogen storage disease 12 + + + + GSD12 + + @@ -243670,6 +289352,12 @@ ciliary dyskinesia, primary, 7, with or without situs inversus ciliary dyskinesia, primary, 7 + + + + CILD7 + + @@ -243694,6 +289382,12 @@ SHARPIN + + + + SHARPIN + + @@ -243732,6 +289426,12 @@ pe2 ERF + + + + ERF + + @@ -243743,6 +289443,12 @@ lethal arthrogryposis with anterior horn cell disease, formerly congenital arthrogryposis with anterior horn cell disease + + + + CAAHD + + @@ -243760,6 +289466,12 @@ aortic aneurysm, familial abdominal, 3 aortic aneurysm, familial abdominal, 3 + + + + AAA3 + + @@ -243777,6 +289489,12 @@ aneurysm, intracranial berry, 6 aneurysm, intracranial berry, 6 + + + + ANIB6 + + @@ -243802,6 +289520,12 @@ PLEKHG2 + + + + PLEKHG2 + + @@ -243827,6 +289551,12 @@ MIR140 + + + + MIR140 + + @@ -243850,6 +289580,12 @@ amyotrophic lateral sclerosis 9 amyotrophic lateral sclerosis 9 + + + + ALS9 + + @@ -243868,6 +289604,12 @@ nanophthalmos 3 nanophthalmos 3 + + + + NNO3 + + @@ -243893,6 +289635,12 @@ VWA1 + + + + VWA1 + + @@ -243910,6 +289658,12 @@ episodic ataxia, type 7 episodic ataxia, type 7 + + + + EA7 + + @@ -243934,6 +289688,12 @@ RFT1 + + + + RFT1 + + @@ -243958,6 +289718,12 @@ SLC16A12 + + + + SLC16A12 + + @@ -243982,6 +289748,12 @@ ISCU + + + + ISCU + + @@ -244025,6 +289797,12 @@ c-reactive protein, serum level of, quantitative trait locus 1 c-reactive protein, serum level of, quantitative trait locus 1 + + + + CRPQTL1 + + @@ -244057,6 +289835,12 @@ FAM83H + + + + FAM83H + + @@ -244079,6 +289863,12 @@ prostate cancer, hereditary, 13 prostate cancer, hereditary, 13 + + + + HPC13 + + @@ -244106,6 +289896,12 @@ epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 epilepsy, idiopathic generalized, susceptibility to, 5 + + + + EIG5 + + @@ -244130,6 +289926,12 @@ mmadhc gene MMADHC + + + + MMADHC + + @@ -244170,6 +289972,12 @@ ventricular tachycardia, stress-induced polymorphic 2 ventricular tachycardia, catecholaminergic polymorphic, 2 + + + + CPVT2 + + @@ -244184,6 +289992,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, childhood absence, susceptibility to, 6 + + + + ECA6 + + @@ -244207,6 +290021,12 @@ riddle syndrome riddle syndrome + + + + RIDL + + @@ -244225,6 +290045,12 @@ lymphedema, hereditary, ib, formerly lymphatic malformation 2 + + + + LMPHM2 + + @@ -244242,6 +290068,12 @@ spastic paraplegia 37, autosomal dominant spastic paraplegia 37, autosomal dominant + + + + SPG37 + + @@ -244276,6 +290108,12 @@ stumpy, mouse, homolog of B9D2 + + + + B9D2 + + @@ -244287,6 +290125,12 @@ macular degeneration, age-related, 11 macular degeneration, age-related, 11 + + + + ARMD11 + + @@ -244303,6 +290147,12 @@ prostate cancer, hereditary, 11 prostate cancer, hereditary, 11 + + + + HPC11 + + @@ -244327,6 +290177,12 @@ C3ORF52 + + + + C3ORF52 + + @@ -244343,6 +290199,12 @@ prostate cancer, hereditary, 14 prostate cancer, hereditary, 14 + + + + HPC14 + + @@ -244359,6 +290221,12 @@ prostate cancer, hereditary, 15 prostate cancer, hereditary, 15 + + + + HPC15 + + @@ -244369,6 +290237,12 @@ asthma-related traits, susceptibility to, 7 asthma-related traits, susceptibility to, 7 + + + + ASRT7 + + @@ -244412,6 +290286,12 @@ TRAPPC9 + + + + TRAPPC9 + + @@ -244435,6 +290315,12 @@ MRPS2 + + + + MRPS2 + + @@ -244458,6 +290344,12 @@ MRPS7 + + + + MRPS7 + + @@ -244481,6 +290373,12 @@ MRPS14 + + + + MRPS14 + + @@ -244504,6 +290402,12 @@ MRPS23 + + + + MRPS23 + + @@ -244527,6 +290431,12 @@ MRPS25 + + + + MRPS25 + + @@ -244551,6 +290461,12 @@ MRPS28 + + + + MRPS28 + + @@ -244575,6 +290491,12 @@ MRPS34 + + + + MRPS34 + + @@ -244599,6 +290521,12 @@ CREB3L3 + + + + CREB3L3 + + @@ -244639,6 +290567,12 @@ GIGYF2 + + + + GIGYF2 + + @@ -244663,6 +290597,12 @@ thrombocytopenia, autosomal dominant, 4 thrombocytopenia 4 + + + + THC4 + + @@ -244681,6 +290621,12 @@ gluten-sensitive enteropathy, susceptibility to, 7 celiac disease, susceptibility to, 7 + + + + CELIAC7 + + @@ -244699,6 +290645,12 @@ gluten-sensitive enteropathy, susceptibility to, 8 celiac disease, susceptibility to, 8 + + + + CELIAC8 + + @@ -244717,6 +290669,12 @@ gluten-sensitive enteropathy, susceptibility to, 9 celiac disease, susceptibility to, 9 + + + + CELIAC9 + + @@ -244735,6 +290693,12 @@ gluten-sensitive enteropathy, susceptibility to, 10 celiac disease, susceptibility to, 10 + + + + CELIAC10 + + @@ -244753,6 +290717,12 @@ gluten-sensitive enteropathy, susceptibility to, 11 celiac disease, susceptibility to, 11 + + + + CELIAC11 + + @@ -244771,6 +290741,12 @@ gluten-sensitive enteropathy, susceptibility to, 12 celiac disease, susceptibility to, 12 + + + + CELIAC12 + + @@ -244789,6 +290765,12 @@ gluten-sensitive enteropathy, susceptibility to, 13 celiac disease, susceptibility to, 13 + + + + CELIAC13 + + @@ -244815,6 +290797,12 @@ ZFYVE26 + + + + ZFYVE26 + + @@ -244856,6 +290844,12 @@ kiaa1345 CC2D2A + + + + CC2D2A + + @@ -244885,6 +290879,12 @@ tetratricopeptide repeat-containing hedgehog modulator 1 TTC21B + + + + TTC21B + + @@ -244909,6 +290909,12 @@ congenital disorder of glycosylation, type in congenital disorder of glycosylation, type in + + + + CDG1N + + @@ -244934,6 +290940,12 @@ spinocerebellar ataxia, autosomal recessive 9 coenzyme Q10 deficiency, primary, 4 + + + + COQ10D4 + + @@ -244951,6 +290963,12 @@ pyloric stenosis, infantile hypertrophic, 3 pyloric stenosis, infantile hypertrophic, 3 + + + + IHPS3 + + @@ -244976,6 +290994,12 @@ cataract, juvenile, with microcornea and glucosuria, formerly cataract 47 + + + + CTRCT47 + + @@ -244988,6 +291012,12 @@ spastic paraplegia 39, autosomal recessive spastic paraplegia 39, autosomal recessive + + + + SPG39 + + @@ -245012,6 +291042,12 @@ OTUD6B + + + + OTUD6B + + @@ -245038,6 +291074,12 @@ OTUD7A + + + + OTUD7A + + @@ -245062,6 +291104,12 @@ IYD + + + + IYD + + @@ -245087,6 +291135,12 @@ LARP7 + + + + LARP7 + + @@ -245112,6 +291166,12 @@ FITM2 + + + + FITM2 + + @@ -245128,6 +291188,12 @@ coronary heart disease, susceptibility to, 9 coronary heart disease, susceptibility to, 9 + + + + CHDS9 + + @@ -245158,6 +291224,12 @@ apc2 regulator of wnt signaling pathway 2 APC2 + + + + APC2 + + @@ -245189,6 +291261,12 @@ mt-alars AARS2 + + + + AARS2 + + @@ -245214,6 +291292,12 @@ PARS2 + + + + PARS2 + + @@ -245244,6 +291328,12 @@ zip3-related protein RNF212 + + + + RNF212 + + @@ -245254,6 +291344,12 @@ recombination rate quantitative trait locus 1 recombination rate quantitative trait locus 1 + + + + RRQTL1 + + @@ -245289,6 +291385,12 @@ transmembrane protein 43 TMEM43 + + + + TMEM43 + + @@ -245313,6 +291415,12 @@ BEAN1 + + + + BEAN1 + + @@ -245326,6 +291434,12 @@ This term has one or more labels that end with ', INCLUDED'. smoking as a quantitative trait locus 3 + + + + SQTL3 + + @@ -245352,6 +291466,12 @@ ZFP36L2 + + + + ZFP36L2 + + @@ -245380,6 +291500,12 @@ GET4 + + + + GET4 + + @@ -245403,6 +291529,12 @@ dystonia 16 dystonia 16 + + + + DYT16 + + @@ -245418,6 +291550,12 @@ This term has one or more labels that end with ', INCLUDED'. amyotrophic lateral sclerosis 10 with or without frontotemporal dementia + + + + ALS10 + + @@ -245443,6 +291581,12 @@ mitochondrial dna depletion syndrome 5 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) + + + + MTDPS5 + + @@ -245472,6 +291616,12 @@ RBM28 + + + + RBM28 + + @@ -245489,6 +291639,12 @@ This term has one or more labels that end with ', INCLUDED'. mitochondrial DNA depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) + + + + MTDPS8A + + @@ -245509,6 +291665,12 @@ This term has one or more labels that end with ', INCLUDED'. hypouricemia, renal, 2 + + + + RHUC2 + + @@ -245533,6 +291695,12 @@ ZNF469 + + + + ZNF469 + + @@ -245556,6 +291724,12 @@ ane syndrome alopecia, neurologic defects, and endocrinopathy syndrome + + + + ANES + + @@ -245580,6 +291754,12 @@ UQCRQ + + + + UQCRQ + + @@ -245605,6 +291785,12 @@ CIC + + + + CIC + + @@ -245646,6 +291832,12 @@ SLC51A + + + + SLC51A + + @@ -245671,6 +291863,12 @@ SLC51B + + + + SLC51B + + @@ -245698,6 +291896,12 @@ retinitis pigmentosa 41 retinitis pigmentosa 41 + + + + RP41 + + @@ -245715,6 +291919,12 @@ otosclerosis 8 otosclerosis 8 + + + + OTSC8 + + @@ -245735,6 +291945,12 @@ cardiomyopathy, familial hypertrophic, 11 cardiomyopathy, familial hypertrophic, 11 + + + + CMH11 + + @@ -245762,6 +291978,12 @@ autism, susceptibility to, 15 autism, susceptibility to, 15 + + + + AUTS15 + + @@ -245785,6 +292007,12 @@ KLLN + + + + KLLN + + @@ -245809,6 +292037,12 @@ SLC17A9 + + + + SLC17A9 + + @@ -245825,6 +292059,12 @@ fasting plasma glucose level quantitative trait locus 1 fasting plasma glucose level quantitative trait locus 1 + + + + FGQTL1 + + @@ -245849,6 +292089,12 @@ schorderet-munier-franceschetti syndrome oculoauricular syndrome + + + + OCACS + + @@ -245865,6 +292111,12 @@ bone mineral density quantitative trait locus 9 bone mineral density quantitative trait locus 9 + + + + BMND9 + + @@ -245881,6 +292133,12 @@ bone mineral density quantitative trait locus 10 bone mineral density quantitative trait locus 10 + + + + BMND10 + + @@ -245897,6 +292155,12 @@ bone mineral density quantitative trait locus 11 bone mineral density quantitative trait locus 11 + + + + BMND11 + + @@ -245944,6 +292208,12 @@ CIDEC + + + + CIDEC + + @@ -245967,6 +292237,12 @@ PNPLA1 + + + + PNPLA1 + + @@ -245993,6 +292269,12 @@ PNPLA8 + + + + PNPLA8 + + @@ -246004,6 +292286,12 @@ cardiomyopathy, familial hypertrophic, 12 cardiomyopathy, familial hypertrophic, 12 + + + + CMH12 + + @@ -246020,6 +292308,12 @@ ped with or without epilepsy and/or hemolytic anemia glut1 deficiency syndrome 2 + + + + GLUT1DS2 + + @@ -246044,6 +292338,12 @@ HSD17B13 + + + + HSD17B13 + + @@ -246070,6 +292370,12 @@ ectodermal dysplasia, hypohidrotic, with immunodeficiency 2 ectodermal dysplasia and immunodeficiency 2 + + + + EDAID2 + + @@ -246082,6 +292388,12 @@ epidermolysis bullosa simplex with pyloric atresia epidermolysis bullosa simplex 5c, with pyloric atresia + + + + EBS5C + + @@ -246096,6 +292408,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction + + + + CMD1AA + + @@ -246134,6 +292452,12 @@ aneurysm, intracranial berry, 7 aneurysm, intracranial berry, 7 + + + + ANIB7 + + @@ -246151,6 +292475,12 @@ aneurysm, intracranial berry, 8 aneurysm, intracranial berry, 8 + + + + ANIB8 + + @@ -246175,6 +292505,12 @@ TPCN2 + + + + TPCN2 + + @@ -246199,6 +292535,12 @@ epileptic encephalopathy, early infantile, 4 developmental and epileptic encephalopathy 4 + + + + DEE4 + + @@ -246216,6 +292558,12 @@ retinitis pigmentosa 29 retinitis pigmentosa 29 + + + + RP29 + + @@ -246241,6 +292589,12 @@ MYSM1 + + + + MYSM1 + + @@ -246265,6 +292619,12 @@ NAT2 + + + + NAT2 + + @@ -246301,6 +292661,12 @@ rabconnectin 3 DMXL2 + + + + DMXL2 + + @@ -246325,6 +292691,12 @@ ZFP57 + + + + ZFP57 + + @@ -246359,6 +292731,12 @@ crmcc cerebroretinal microangiopathy with calcifications and cysts 1 + + + + CRMCC1 + + @@ -246370,6 +292748,12 @@ atrial fibrillation, familial, 6 atrial fibrillation, familial, 6 + + + + ATFB6 + + @@ -246383,6 +292767,12 @@ This term has one or more labels that end with ', INCLUDED'. ewing sarcoma + + + + ES + + @@ -246399,6 +292789,12 @@ stature quantitative trait locus 10 stature quantitative trait locus 10 + + + + STQTL10 + + @@ -246423,6 +292819,12 @@ GALNS + + + + GALNS + + @@ -246439,6 +292841,12 @@ stature quantitative trait locus 11 stature quantitative trait locus 11 + + + + STQTL11 + + @@ -246455,6 +292863,12 @@ stature quantitative trait locus 12 stature quantitative trait locus 12 + + + + STQTL12 + + @@ -246465,6 +292879,12 @@ maturity-onset diabetes of the young, type 9 maturity-onset diabetes of the young, type 9 + + + + MODY9 + + @@ -246481,6 +292901,12 @@ stature quantitative trait locus 13 stature quantitative trait locus 13 + + + + STQTL13 + + @@ -246491,6 +292917,12 @@ diabetes mellitus, ketosis-prone diabetes mellitus, ketosis-prone + + + + KPD + + @@ -246507,6 +292939,12 @@ stature quantitative trait locus 14 stature quantitative trait locus 14 + + + + STQTL14 + + @@ -246530,6 +292968,12 @@ colorectal cancer, susceptibility to, on chromosome 18 colorectal cancer, susceptibility to, 3 + + + + CRCS3 + + @@ -246547,6 +292991,12 @@ colorectal cancer, susceptibility to, on chromosome 10 colorectal cancer, susceptibility to, 5 + + + + CRCS5 + + @@ -246564,6 +293014,12 @@ colorectal cancer, susceptibility to, on chromosome 8q23 colorectal cancer, susceptibility to, 6 + + + + CRCS6 + + @@ -246581,6 +293037,12 @@ colorectal cancer, susceptibility to, on chromosome 11 colorectal cancer, susceptibility to, 7 + + + + CRCS7 + + @@ -246594,6 +293056,12 @@ mitochondrial hsp60 chaperonopathy leukodystrophy, hypomyelinating, 4 + + + + HLD4 + + @@ -246632,6 +293100,12 @@ scoliosis, isolated, susceptibility to, 4 scoliosis, isolated, susceptibility to, 4 + + + + IS4 + + @@ -246648,6 +293122,12 @@ scoliosis, isolated, susceptibility to, 5 scoliosis, isolated, susceptibility to, 5 + + + + IS5 + + @@ -246671,6 +293151,12 @@ atrial fibrillation, familial, 7 atrial fibrillation, familial, 7 + + + + ATFB7 + + @@ -246688,6 +293174,12 @@ inflammatory bowel disease 12 inflammatory bowel disease 12 + + + + IBD12 + + @@ -246731,6 +293223,12 @@ ADGRG6 + + + + ADGRG6 + + @@ -246742,6 +293240,12 @@ inflammatory bowel disease 13 inflammatory bowel disease 13 + + + + IBD13 + + @@ -246753,6 +293257,12 @@ inflammatory bowel disease 14 inflammatory bowel disease 14 + + + + IBD14 + + @@ -246764,6 +293274,12 @@ crouzonodermoskeletal syndrome crouzon syndrome with acanthosis nigricans + + + + CAN + + @@ -246796,6 +293312,12 @@ systemic lupus erythematosus, susceptibility to, 10 systemic lupus erythematosus, susceptibility to, 10 + + + + SLEB10 + + @@ -246806,6 +293328,12 @@ systemic lupus erythematosus, susceptibility to, 11 systemic lupus erythematosus, susceptibility to, 11 + + + + SLEB11 + + @@ -246822,6 +293350,12 @@ systemic lupus erythematosus, susceptibility to, 12 systemic lupus erythematosus, susceptibility to, 12 + + + + SLEB12 + + @@ -246839,6 +293373,12 @@ inflammatory bowel disease 15 inflammatory bowel disease 15 + + + + IBD15 + + @@ -246864,6 +293404,12 @@ MAST1 + + + + MAST1 + + @@ -246888,6 +293434,12 @@ MAST3 + + + + MAST3 + + @@ -246905,6 +293457,12 @@ inflammatory bowel disease 16 inflammatory bowel disease 16 + + + + IBD16 + + @@ -246919,6 +293477,12 @@ recurrent pyogenic bacterial infections due to myd88 deficiency immunodeficiency 68 + + + + IMD68 + + @@ -246930,6 +293494,12 @@ inflammatory bowel disease 17 inflammatory bowel disease 17 + + + + IBD17 + + @@ -246947,6 +293517,12 @@ inflammatory bowel disease 18 inflammatory bowel disease 18 + + + + IBD18 + + @@ -246964,6 +293540,12 @@ melanoma, cutaneous malignant, susceptibility to, 7 melanoma, cutaneous malignant, susceptibility to, 7 + + + + CMM7 + + @@ -246988,6 +293570,12 @@ skin/hair/eye pigmentation, variation in, 10 skin/hair/eye pigmentation, variation in, 10 + + + + SHEP10 + + @@ -247014,6 +293602,12 @@ TTLL5 + + + + TTLL5 + + @@ -247025,6 +293619,12 @@ epilepsy, childhood absence, susceptibility to, 5 epilepsy, childhood absence, susceptibility to, 5 + + + + ECA5 + + @@ -247038,6 +293638,12 @@ skin/hair/eye pigmentation, variation in, 11 skin/hair/eye pigmentation, variation in, 11 + + + + SHEP11 + + @@ -247074,6 +293680,12 @@ ciliary dyskinesia, primary, 8, with or without situs inversus ciliary dyskinesia, primary, 8 + + + + CILD8 + + @@ -247099,6 +293711,12 @@ YRDC + + + + YRDC + + @@ -247123,6 +293741,12 @@ ADAMTSL2 + + + + ADAMTSL2 + + @@ -247134,6 +293758,12 @@ inflammatory bowel disease (crohn disease) 19 inflammatory bowel disease (crohn disease) 19 + + + + IBD19 + + @@ -247152,6 +293782,12 @@ generalized epilepsy with febrile seizures plus, type 6 generalized epilepsy with febrile seizures plus, type 6 + + + + GEFSP6 + + @@ -247177,6 +293813,12 @@ FUCA1 + + + + FUCA1 + + @@ -247201,6 +293843,12 @@ ichthyosis, congenital, autosomal recessive, nipal4-related ichthyosis, congenital, autosomal recessive 6 + + + + ARCI6 + + @@ -247230,6 +293878,12 @@ protein c PROC + + + + PROC + + @@ -247241,6 +293895,12 @@ meckel syndrome, type 6 meckel syndrome, type 6 + + + + MKS6 + + @@ -247254,6 +293914,12 @@ This term has one or more labels that end with ', INCLUDED'. joubert syndrome 9 + + + + JBTS9 + + @@ -247265,6 +293931,12 @@ nephrolithiasis/osteoporosis, hypophosphatemic, 1 nephrolithiasis/osteoporosis, hypophosphatemic, 1 + + + + NPHLOP1 + + @@ -247282,6 +293954,12 @@ nephrolithiasis/osteoporosis, hypophosphatemic, 2 nephrolithiasis/osteoporosis, hypophosphatemic, 2 + + + + NPHLOP2 + + @@ -247299,6 +293977,12 @@ inflammatory bowel disease 20 inflammatory bowel disease 20 + + + + IBD20 + + @@ -247324,6 +294008,12 @@ progeroid syndrome, congenital, petty type fontaine progeroid syndrome + + + + FPS + + @@ -247358,6 +294048,12 @@ joubert syndrome 8 joubert syndrome 8 + + + + JBTS8 + + @@ -247382,6 +294078,12 @@ mental retardation with hypotonia and facial dysmorphism birk-barel syndrome + + + + BIBARS + + @@ -247400,6 +294102,12 @@ porokeratosis, disseminated superficial actinic, 3 porokeratosis 5, disseminated superficial actinic type + + + + POROK5 + + @@ -247424,6 +294132,12 @@ TRIM44 + + + + TRIM44 + + @@ -247447,6 +294161,12 @@ hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy + + + + HACD59 + + @@ -247459,6 +294179,12 @@ osteopetrosis, osteoclast-poor, with hypogammaglobulinemia osteopetrosis, autosomal recessive 7 + + + + OPTB7 + + @@ -247472,6 +294198,12 @@ thrombophilia due to protein c deficiency, autosomal recessive thrombophilia due to protein c deficiency, autosomal recessive + + + + THPH4 + + @@ -247489,6 +294221,12 @@ thyrotropin quantitative trait locus 1 thyroid-stimulating hormone level quantitative trait locus 1 + + + + TSHQTL1 + + @@ -247541,6 +294279,12 @@ This term has one or more labels that end with ', INCLUDED'. F5 + + + + F5 + + @@ -247564,6 +294308,12 @@ premature ovarian failure 6 premature ovarian failure 6 + + + + POF6 + + @@ -247621,6 +294371,12 @@ glass syndrome glass syndrome + + + + GLASS + + @@ -247648,6 +294404,12 @@ KRT6C + + + + KRT6C + + @@ -247676,6 +294438,12 @@ atpase family, aaa domain-containing, member 3a ATAD3A + + + + ATAD3A + + @@ -247725,6 +294493,12 @@ spastic paraplegia 35, autosomal recessive, with or without neurodegeneration spastic paraplegia 35, autosomal recessive, with or without neurodegeneration + + + + SPG35 + + @@ -247758,6 +294532,12 @@ FASTKD2 + + + + FASTKD2 + + @@ -247782,6 +294562,12 @@ CCDC34 + + + + CCDC34 + + @@ -247812,6 +294598,12 @@ mak-related kinase ICK + + + + ICK + + @@ -247829,6 +294621,12 @@ spastic paraplegia 38, autosomal dominant spastic paraplegia 38, autosomal dominant + + + + SPG38 + + @@ -247840,6 +294638,12 @@ thrombophilia due to protein s deficiency, autosomal dominant thrombophilia due to protein s deficiency, autosomal dominant + + + + THPH5 + + @@ -247867,6 +294671,12 @@ This term has one or more labels that end with ', INCLUDED'. intellectual developmental disorder, autosomal dominant 22 + + + + MRD22 + + @@ -247921,6 +294731,12 @@ GGT1 + + + + GGT1 + + @@ -247932,6 +294748,12 @@ jervell and lange-nielsen syndrome 2 jervell and lange-nielsen syndrome 2 + + + + JLNS2 + + @@ -247951,6 +294773,12 @@ This term has one or more labels that end with ', INCLUDED'. thrombophilia, familial, due to decreased release of tissue plasminogen activator + + + + THPH9 + + @@ -247973,6 +294801,12 @@ phenylalanine hydroxylase PAH + + + + PAH + + @@ -247997,6 +294831,12 @@ spondylocheirodysplasia, ehlers-danlos syndrome-like ehlers-danlos syndrome, spondylodysplastic type, 3 + + + + EDSSPD3 + + @@ -248020,6 +294860,12 @@ FOXI3 + + + + FOXI3 + + @@ -248039,6 +294885,12 @@ porokeratosis, disseminated superficial actinic, 4 porokeratosis 6, multiple types + + + + POROK6 + + @@ -248056,6 +294908,12 @@ inflammatory bowel disease 21 inflammatory bowel disease 21 + + + + IBD21 + + @@ -248106,6 +294964,12 @@ major affective disorder 8 major affective disorder 8 + + + + MAFD8 + + @@ -248142,6 +295006,12 @@ This term has one or more labels that end with ', INCLUDED'. KNG1 + + + + KNG1 + + @@ -248175,6 +295045,12 @@ NDUFAF5 + + + + NDUFAF5 + + @@ -248203,6 +295079,12 @@ obesity, susceptibility to body mass index quantitative trait locus 12 + + + + BMIQ12 + + @@ -248302,6 +295184,12 @@ hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia + + + + HH5 + + @@ -248325,6 +295213,12 @@ major affective disorder 7 major affective disorder 7 + + + + MAFD7 + + @@ -248342,6 +295236,12 @@ major affective disorder 9 major affective disorder 9 + + + + MAFD9 + + @@ -248393,6 +295293,12 @@ STING1 + + + + STING1 + + @@ -248404,6 +295310,12 @@ leukemia, acute promyelocytic acute promyelocytic leukemia + + + + APL + + @@ -248420,6 +295332,12 @@ systemic lupus erythematosus, susceptibility to, 13 systemic lupus erythematosus, susceptibility to, 13 + + + + SLEB13 + + @@ -248433,6 +295351,12 @@ congenital disorder of glycosylation, type iq congenital disorder of glycosylation, type iq + + + + CDG1Q + + @@ -248450,6 +295374,12 @@ inflammatory bowel disease 22 inflammatory bowel disease 22 + + + + IBD22 + + @@ -248467,6 +295397,12 @@ inflammatory bowel disease 23 inflammatory bowel disease 23 + + + + IBD23 + + @@ -248491,6 +295427,12 @@ MED11 + + + + MED11 + + @@ -248517,6 +295459,12 @@ FECH + + + + FECH + + @@ -248539,6 +295487,12 @@ sarcoidosis, susceptibility to, 2 sarcoidosis, susceptibility to, 2 + + + + SS2 + + @@ -248555,6 +295509,12 @@ sarcoidosis, susceptibility to, 3 sarcoidosis, susceptibility to, 3 + + + + SS3 + + @@ -248578,6 +295538,12 @@ pontocerebellar hypoplasia, type 2b pontocerebellar hypoplasia, type 2b + + + + PCH2B + + @@ -248601,6 +295567,12 @@ pontocerebellar hypoplasia, type 2c pontocerebellar hypoplasia, type 2c + + + + PCH2C + + @@ -248639,6 +295611,12 @@ chromosome 8 open reading frame 38 NDUFAF6 + + + + NDUFAF6 + + @@ -248664,6 +295642,12 @@ lysyl hydroxylase 3 deficiency bcard syndrome + + + + BCARD + + @@ -248691,6 +295675,12 @@ CHKB + + + + CHKB + + @@ -248701,6 +295691,12 @@ allantoicase allantoicase + + + + ALLC + + @@ -248726,6 +295722,12 @@ TLE6 + + + + TLE6 + + @@ -248737,6 +295739,12 @@ osteoarthritis susceptibility 5 osteoarthritis susceptibility 5 + + + + OS5 + + @@ -248754,6 +295762,12 @@ osteoarthritis susceptibility 6 osteoarthritis susceptibility 6 + + + + OS6 + + @@ -248771,6 +295785,12 @@ dystonia 17, torsion, autosomal recessive dystonia 17, torsion, autosomal recessive + + + + DYT17 + + @@ -248788,6 +295808,12 @@ psoriasis 10, susceptibility to psoriasis 10, susceptibility to + + + + PSORS10 + + @@ -248818,6 +295844,12 @@ fatj FAT4 + + + + FAT4 + + @@ -248846,6 +295878,12 @@ LRTOMT + + + + LRTOMT + + @@ -248876,6 +295914,12 @@ narcolepsy 4, susceptibility to narcolepsy 4, susceptibility to + + + + NRCLP4 + + @@ -248899,6 +295943,12 @@ TMEM70 + + + + TMEM70 + + @@ -248916,6 +295966,12 @@ alopecia, androgenetic, 3 alopecia, androgenetic, 3 + + + + AGA3 + + @@ -248927,6 +295983,12 @@ cardiomyopathy, familial restrictive, 3 cardiomyopathy, familial restrictive, 3 + + + + RCM3 + + @@ -248951,6 +296013,12 @@ prekallikrein deficiency prekallikrein deficiency + + + + PKKD + + @@ -248976,6 +296044,12 @@ EYS + + + + EYS + + @@ -248987,6 +296061,12 @@ deafness, autosomal dominant 27 deafness, autosomal dominant 27 + + + + DFNA27 + + @@ -249004,6 +296084,12 @@ deafness, autosomal recessive 45 deafness, autosomal recessive 45 + + + + DFNB45 + + @@ -249027,6 +296113,12 @@ epilepsy, progressive myoclonic, 1b epilepsy, progressive myoclonic, 1b + + + + EPM1B + + @@ -249039,6 +296131,12 @@ leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum leukodystrophy, hypomyelinating, 6 + + + + HLD6 + + @@ -249081,6 +296179,12 @@ ciliary dyskinesia, primary, 9, with or without situs inversus ciliary dyskinesia, primary, 9 + + + + CILD9 + + @@ -249116,6 +296220,12 @@ This term has one or more labels that end with ', INCLUDED'. complement component 6 deficiency + + + + C6D + + @@ -249143,6 +296253,12 @@ presbycusis 1 age-related hearing impairment 1 + + + + ARHI1 + + @@ -249168,6 +296284,12 @@ KANSL1 + + + + KANSL1 + + @@ -249197,6 +296319,12 @@ multiple epidermal growth factor-like domains 10 MEGF10 + + + + MEGF10 + + @@ -249221,6 +296349,12 @@ APOLD1 + + + + APOLD1 + + @@ -249252,6 +296386,12 @@ baf53b ACTL6B + + + + ACTL6B + + @@ -249268,6 +296408,12 @@ body mass index quantitative trait locus 13 body mass index quantitative trait locus 13 + + + + BMIQ13 + + @@ -249279,6 +296425,12 @@ obesity, susceptibility to body mass index quantitative trait locus 14 + + + + BMIQ14 + + @@ -249290,6 +296442,12 @@ pseudohypoparathyroidism, type 1c pseudohypoparathyroidism, type 1c + + + + PHP1C + + @@ -249301,6 +296459,12 @@ pseudopseudohypoparathyroidism pseudopseudohypoparathyroidism + + + + PPHP + + @@ -249326,6 +296490,12 @@ TBC1D4 + + + + TBC1D4 + + @@ -249345,6 +296515,12 @@ wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wagro syndrome + + + + WAGRO + + @@ -249371,6 +296547,12 @@ AGXT2 + + + + AGXT2 + + @@ -249435,6 +296617,12 @@ RNF43 + + + + RNF43 + + @@ -249460,6 +296648,12 @@ RNF31 + + + + RNF31 + + @@ -249484,6 +296678,12 @@ ADSS1 + + + + ADSS1 + + @@ -249508,6 +296708,12 @@ COLEC11 + + + + COLEC11 + + @@ -249532,6 +296738,12 @@ ABCA5 + + + + ABCA5 + + @@ -249564,6 +296776,12 @@ specific language impairment 4 specific language impairment 4 + + + + SLI4 + + @@ -249588,6 +296806,12 @@ DCAF17 + + + + DCAF17 + + @@ -249613,6 +296837,12 @@ DNAAF2 + + + + DNAAF2 + + @@ -249637,6 +296867,12 @@ ciliary dyskinesia, primary, 10, with or without situs inversus ciliary dyskinesia, primary, 10 + + + + CILD10 + + @@ -249648,6 +296884,12 @@ type 1 diabetes mellitus 20 type 1 diabetes mellitus 20 + + + + T1D20 + + @@ -249665,6 +296907,12 @@ type 1 diabetes mellitus 21 type 1 diabetes mellitus 21 + + + + T1D21 + + @@ -249676,6 +296924,12 @@ type 1 diabetes mellitus 22 type 1 diabetes mellitus 22 + + + + T1D22 + + @@ -249693,6 +296947,12 @@ pyloric stenosis, infantile hypertrophic, 5 pyloric stenosis, infantile hypertrophic, 5 + + + + IHPS5 + + @@ -249706,6 +296966,12 @@ lipodystrophy, congenital generalized, type 3 lipodystrophy, congenital generalized, type 3 + + + + CGL3 + + @@ -249729,6 +296995,12 @@ diamond-blackfan anemia 4 diamond-blackfan anemia 4 + + + + DBA4 + + @@ -249752,6 +297024,12 @@ diamond-blackfan anemia 5 diamond-blackfan anemia 5 + + + + DBA5 + + @@ -249776,6 +297054,12 @@ amelogenesis imperfecta, pigmented hypomaturation type, 2 amelogenesis imperfecta, hypomaturation type, iia2 + + + + AI2A2 + + @@ -249789,8 +297073,8 @@ + holoprosencephaly 10 chromosome 1q41-q42 deletion syndrome - holoprosencephaly 10 This term has one or more labels that end with ', INCLUDED'. chromosome 1q41-q42 deletion syndrome @@ -249805,6 +297089,12 @@ spastic paraplegia 42, autosomal dominant spastic paraplegia 42, autosomal dominant + + + + SPG42 + + @@ -249829,6 +297119,12 @@ myopathy, congenital, compton-north congenital myopathy 12 + + + + CMYO12 + + @@ -249843,6 +297139,12 @@ This term has one or more labels that end with ', INCLUDED'. neutropenia, severe congenital, 4, autosomal recessive + + + + SCN4 + + @@ -249853,6 +297155,12 @@ vitamin b12 plasma level quantitative trait locus 1 vitamin b12 plasma level quantitative trait locus 1 + + + + B12QTL1 + + @@ -249876,6 +297184,12 @@ focal segmental glomerulosclerosis 4, susceptibility to focal segmental glomerulosclerosis 4, susceptibility to + + + + FSGS4 + + @@ -249893,6 +297207,12 @@ myopia 16, autosomal dominant myopia 16, autosomal dominant + + + + MYP16 + + @@ -249908,6 +297228,12 @@ This term has one or more labels that end with ', INCLUDED'. breast-ovarian cancer, familial, susceptibility to, 2 + + + + BROVCA2 + + @@ -249932,6 +297258,12 @@ hypoadiponectinemia adiponectin deficiency + + + + ADPOD + + @@ -250002,6 +297334,12 @@ bone mineral density quantitative trait locus 12 bone mineral density quantitative trait locus 12 + + + + BMND12 + + @@ -250026,6 +297364,12 @@ diamond-blackfan anemia 6 diamond-blackfan anemia 6 + + + + DBA6 + + @@ -250049,6 +297393,12 @@ diamond-blackfan anemia 7 diamond-blackfan anemia 7 + + + + DBA7 + + @@ -250072,6 +297422,12 @@ diamond-blackfan anemia 8 diamond-blackfan anemia 8 + + + + DBA8 + + @@ -250089,6 +297445,12 @@ inflammatory bowel disease 24 inflammatory bowel disease 24 + + + + IBD24 + + @@ -250101,6 +297463,12 @@ inflammatory bowel disease, early-onset, autosomal recessive inflammatory bowel disease 25, autosomal recessive + + + + IBD25 + + @@ -250129,6 +297497,12 @@ fibrillin 2 FBN2 + + + + FBN2 + + @@ -250146,6 +297520,12 @@ lung cancer susceptibility 3 lung cancer susceptibility 3 + + + + LNCR3 + + @@ -250170,6 +297550,12 @@ retinitis pigmentosa, autosomal recessive, idh3b-related retinitis pigmentosa 46 + + + + RP46 + + @@ -250186,6 +297572,12 @@ mean platelet volume/count quantitative trait locus 1 mean platelet volume/count quantitative trait locus 1 + + + + MPVCQTL1 + + @@ -250203,6 +297595,12 @@ platelet count quantitative trait locus 1 mean platelet volume/count quantitative trait locus 2 + + + + MPVCQTL2 + + @@ -250219,6 +297617,12 @@ mean platelet volume/count quantitative trait locus 3 mean platelet volume/count quantitative trait locus 3 + + + + MPVCQTL3 + + @@ -250246,6 +297650,12 @@ amyotrophic lateral sclerosis 11 amyotrophic lateral sclerosis 11 + + + + ALS11 + + @@ -250262,6 +297672,12 @@ stature quantitative trait locus 15 stature quantitative trait locus 15 + + + + STQTL15 + + @@ -250278,6 +297694,12 @@ stature quantitative trait locus 16 stature quantitative trait locus 16 + + + + STQTL16 + + @@ -250302,6 +297724,12 @@ mental retardation, autosomal dominant 3 intellectual developmental disorder, autosomal dominant 3 + + + + MRD3 + + @@ -250320,6 +297748,12 @@ mental retardation, autosomal dominant 4 intellectual developmental disorder, autosomal dominant 4 + + + + MRD4 + + @@ -250359,6 +297793,12 @@ SPNS2 + + + + SPNS2 + + @@ -250376,6 +297816,12 @@ aneurysm, intracranial berry, 9 aneurysm, intracranial berry, 9 + + + + ANIB9 + + @@ -250393,6 +297839,12 @@ aneurysm, intracranial berry, 10 aneurysm, intracranial berry, 10 + + + + ANIB10 + + @@ -250410,6 +297862,12 @@ colorectal cancer, susceptibility to, on chromosome 14q colorectal cancer, susceptibility to, 8 + + + + CRCS8 + + @@ -250427,6 +297885,12 @@ colorectal cancer, susceptibility to, on chromosome 16q colorectal cancer, susceptibility to, 9 + + + + CRCS9 + + @@ -250438,6 +297902,12 @@ colorectal cancer, susceptibility to, on chromosome 19q colorectal cancer, susceptibility to, 10 + + + + CRCS10 + + @@ -250455,6 +297925,12 @@ colorectal cancer, susceptibility to, on chromosome 20p colorectal cancer, susceptibility to, 11 + + + + CRCS11 + + @@ -250471,6 +297947,12 @@ lung cancer susceptibility 4 lung cancer susceptibility 4 + + + + LNCR4 + + @@ -250488,6 +297970,12 @@ multiple sclerosis, susceptibility to, 2 multiple sclerosis, susceptibility to, 2 + + + + MS2 + + @@ -250505,6 +297993,12 @@ multiple sclerosis, susceptibility to, 3 multiple sclerosis, susceptibility to, 3 + + + + MS3 + + @@ -250522,6 +298016,12 @@ multiple sclerosis, susceptibility to, 4 multiple sclerosis, susceptibility to, 4 + + + + MS4 + + @@ -250539,6 +298039,12 @@ psoriasis 11, susceptibility to psoriasis 11, susceptibility to + + + + PSORS11 + + @@ -250563,6 +298069,12 @@ mental retardation, autosomal dominant 5 intellectual developmental disorder, autosomal dominant 5 + + + + MRD5 + + @@ -250580,6 +298092,12 @@ type 1 diabetes mellitus 23 type 1 diabetes mellitus 23 + + + + T1D23 + + @@ -250593,6 +298111,12 @@ proliferative retinopathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 2 + + + + MVCD2 + + @@ -250606,6 +298130,12 @@ nephropathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 3 + + + + MVCD3 + + @@ -250664,6 +298194,12 @@ seizures, benign familial infantile, 4 seizures, benign familial infantile, 4 + + + + BFIS4 + + @@ -250676,6 +298212,12 @@ nephropathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 4 + + + + MVCD4 + + @@ -250692,6 +298234,12 @@ adiponectin, serum level of, quantitative trait locus 4 adiponectin, serum level of, quantitative trait locus 4 + + + + ADIPQTL4 + + @@ -250703,6 +298251,12 @@ hair thickness, variation 1n hair morphology 1 + + + + HRM1 + + @@ -250741,6 +298295,12 @@ usher syndrome, type 1h usher syndrome, type 1h + + + + USH1H + + @@ -250753,6 +298313,12 @@ retinopathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 5 + + + + MVCD5 + + @@ -250777,6 +298343,12 @@ nephropathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 6 + + + + MVCD6 + + @@ -250797,6 +298369,12 @@ proliferative retinopathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 7 + + + + MVCD7 + + @@ -250823,6 +298401,12 @@ UNC80 + + + + UNC80 + + @@ -250841,6 +298425,12 @@ febrile seizures, familial, 10 febrile seizures, familial, 10 + + + + FEB10 + + @@ -250865,6 +298455,12 @@ NDUFA11 + + + + NDUFA11 + + @@ -250882,6 +298478,12 @@ inflammatory bowel disease 26 inflammatory bowel disease 26 + + + + IBD26 + + @@ -250909,6 +298511,12 @@ ANK1 + + + + ANK1 + + @@ -250926,6 +298534,12 @@ deafness, autosomal dominant 59 deafness, autosomal dominant 59 + + + + DFNA59 + + @@ -250937,6 +298551,12 @@ deafness, autosomal dominant 3b deafness, autosomal dominant 3b + + + + DFNA3B + + @@ -250949,6 +298569,12 @@ deafness, autosomal dominant, with or without peripheral neuropathy deafness, autosomal dominant 2b + + + + DFNA2B + + @@ -250960,6 +298586,12 @@ deafness, autosomal recessive 1b deafness, autosomal recessive 1b + + + + DFNB1B + + @@ -250984,6 +298616,12 @@ RSPH4A + + + + RSPH4A + + @@ -251008,6 +298646,12 @@ RSPH9 + + + + RSPH9 + + @@ -251032,6 +298676,12 @@ ciliary dyskinesia, primary, 11, without situs inversus ciliary dyskinesia, primary, 11 + + + + CILD11 + + @@ -251056,6 +298706,12 @@ ciliary dyskinesia, primary, 12, without situs inversus ciliary dyskinesia, primary, 12 + + + + CILD12 + + @@ -251066,6 +298722,12 @@ endocrine-cerebroosteodysplasia endocrine-cerebroosteodysplasia + + + + ECO + + @@ -251086,6 +298748,12 @@ spherocytosis, type 4 spherocytosis, type 4 + + + + SPH4 + + @@ -251112,6 +298780,12 @@ TBC1D7 + + + + TBC1D7 + + @@ -251135,6 +298809,12 @@ episodic ataxia, type 6 episodic ataxia, type 6 + + + + EA6 + + @@ -251146,6 +298826,12 @@ cone-rod dystrophy 12 cone-rod dystrophy 12 + + + + CORD12 + + @@ -251170,6 +298856,12 @@ RFX6 + + + + RFX6 + + @@ -251194,6 +298886,12 @@ RFX7 + + + + RFX7 + + @@ -251219,6 +298917,12 @@ WRAP53 + + + + WRAP53 + + @@ -251251,6 +298955,12 @@ receptor-interacting serine/threonine kinase 5 DSTYK + + + + DSTYK + + @@ -251271,6 +298981,12 @@ uric acid concentration, serum, quantitative trait locus 4 uric acid concentration, serum, quantitative trait locus 4 + + + + UAQTL4 + + @@ -251293,6 +299009,12 @@ polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract + + + + PHARC + + @@ -251317,6 +299039,12 @@ QDPR + + + + QDPR + + @@ -251341,6 +299069,12 @@ TEKT3 + + + + TEKT3 + + @@ -251364,6 +299098,12 @@ RNF168 + + + + RNF168 + + @@ -251387,6 +299127,12 @@ spherocytosis, type 5 spherocytosis, type 5 + + + + SPH5 + + @@ -251397,6 +299143,12 @@ polymicrogyria, bilateral temporooccipital polymicrogyria, bilateral temporooccipital + + + + BTOP + + @@ -251421,6 +299173,12 @@ agammaglobulinemia, autosomal recessive, due to cd79b defect agammaglobulinemia 6, autosomal recessive + + + + AGM6 + + @@ -251444,6 +299202,12 @@ hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia + + + + HH6 + + @@ -251467,6 +299231,12 @@ microcephaly 7, primary, autosomal recessive microcephaly 7, primary, autosomal recessive + + + + MCPH7 + + @@ -251493,6 +299263,12 @@ This term has one or more labels that end with ', INCLUDED'. leber congenital amaurosis 13 + + + + LCA13 + + @@ -251504,6 +299280,12 @@ mental retardation, cataract, coloboma, and kyphosis, autosomal recessive kahrizi syndrome + + + + KHRZ + + @@ -251542,6 +299324,12 @@ dyschromatosis universalis hereditaria 2 dyschromatosis universalis hereditaria 2 + + + + DUH2 + + @@ -251582,6 +299370,12 @@ myopia 15, autosomal dominant myopia 15, autosomal dominant + + + + MYP15 + + @@ -251597,6 +299391,12 @@ gatm deficiency cerebral creatine deficiency syndrome 3 + + + + CCDS3 + + @@ -251621,6 +299421,12 @@ PTS + + + + PTS + + @@ -251647,6 +299453,12 @@ ALDOB + + + + ALDOB + + @@ -251672,6 +299484,12 @@ bone mineral density quantitative trait locus 13 bone mineral density quantitative trait locus 13 + + + + BMND13 + + @@ -251688,6 +299506,12 @@ bone mineral density quantitative trait locus 14 bone mineral density quantitative trait locus 14 + + + + BMND14 + + @@ -251704,6 +299528,12 @@ lean body mass quantitative trait locus 1 lean body mass quantitative trait locus 1 + + + + LBMQTL1 + + @@ -251743,6 +299573,12 @@ cpx CPOX + + + + CPOX + + @@ -251769,6 +299605,12 @@ guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 2 + + + + CCDS2 + + @@ -251785,6 +299627,12 @@ stature quantitative trait locus 17 stature quantitative trait locus 17 + + + + STQTL17 + + @@ -251809,6 +299657,12 @@ SPACA1 + + + + SPACA1 + + @@ -251849,6 +299703,12 @@ CCBE1 + + + + CCBE1 + + @@ -251872,6 +299732,12 @@ GPIHBP1 + + + + GPIHBP1 + + @@ -251896,6 +299762,12 @@ TAPT1 + + + + TAPT1 + + @@ -251949,6 +299821,12 @@ swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1 SMARCAD1 + + + + SMARCAD1 + + @@ -251974,6 +299852,12 @@ PISD + + + + PISD + + @@ -251997,6 +299881,12 @@ DUOXA2 + + + + DUOXA2 + + @@ -252028,6 +299918,12 @@ msk19 BCAM + + + + BCAM + + @@ -252051,6 +299947,12 @@ cone-rod dystrophy 9 cone-rod dystrophy 9 + + + + CORD9 + + @@ -252109,6 +300011,12 @@ set2 SETD2 + + + + SETD2 + + @@ -252132,6 +300040,12 @@ dpd DPYD + + + + DPYD + + @@ -252145,6 +300059,12 @@ sesame syndrome seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance + + + + SESAMES + + @@ -252157,6 +300077,12 @@ isolated growth hormone deficiency, type 1b isolated growth hormone deficiency, type 1b + + + + IGHD1B + + @@ -252169,6 +300095,12 @@ immunodeficiency 9 immunodeficiency 9 + + + + IMD9 + + @@ -252182,6 +300114,12 @@ stim1 deficiency immunodeficiency 10 + + + + IMD10 + + @@ -252209,6 +300147,12 @@ deafness, autosomal recessive 71 deafness, autosomal recessive 71 + + + + DFNB71 + + @@ -252234,6 +300178,12 @@ PTDSS1 + + + + PTDSS1 + + @@ -252245,6 +300195,12 @@ atrial septal defect 5 atrial septal defect 5 + + + + ASD5 + + @@ -252261,6 +300217,12 @@ polyunsaturated fatty acids plasma level quantitative trait locus 1 polyunsaturated fatty acids plasma level quantitative trait locus 1 + + + + PUFAQTL1 + + @@ -252278,6 +300240,12 @@ inflammatory bowel disease 27 inflammatory bowel disease 27 + + + + IBD27 + + @@ -252288,6 +300256,12 @@ high density lipoprotein cholesterol level quantitative trait locus 12 high density lipoprotein cholesterol level quantitative trait locus 12 + + + + HDLCQ12 + + @@ -252301,6 +300275,12 @@ question mark ears, isolated question mark ears, isolated + + + + QME + + @@ -252327,6 +300307,12 @@ EARS2 + + + + EARS2 + + @@ -252352,6 +300338,12 @@ CARS2 + + + + CARS2 + + @@ -252377,6 +300369,12 @@ IARS2 + + + + IARS2 + + @@ -252403,6 +300401,12 @@ VARS2 + + + + VARS2 + + @@ -252433,6 +300437,12 @@ mitochondrial asnrs NARS2 + + + + NARS2 + + @@ -252458,6 +300468,12 @@ SARS2 + + + + SARS2 + + @@ -252483,6 +300499,12 @@ TARS2 + + + + TARS2 + + @@ -252494,6 +300516,12 @@ spondyloepimetaphyseal dysplasia, aggrecan type spondyloepimetaphyseal dysplasia, aggrecan type + + + + SEMDAG + + @@ -252519,6 +300547,12 @@ PHLDB1 + + + + PHLDB1 + + @@ -252544,6 +300578,12 @@ PLCH1 + + + + PLCH1 + + @@ -252569,6 +300609,12 @@ COQ9 + + + + COQ9 + + @@ -252582,6 +300628,12 @@ This term has one or more labels that end with ', INCLUDED'. brugada syndrome 5 + + + + BRGDA5 + + @@ -252612,6 +300664,12 @@ tet oncogene family, member 2 TET2 + + + + TET2 + + @@ -252637,6 +300695,12 @@ leukocyte adhesion deficiency, type 3 leukocyte adhesion deficiency, type 3 + + + + LAD3 + + @@ -252667,6 +300731,12 @@ marie unna hereditary hypotrichosis 2 hypotrichosis 5 + + + + HYPT5 + + @@ -252677,6 +300747,12 @@ keratosis follicularis spinulosa decalvans, autosomal dominant keratosis follicularis spinulosa decalvans, autosomal dominant + + + + KFSD + + @@ -252702,6 +300778,12 @@ spondyloepimetaphyseal dysplasia, pakistani type brachyolmia type 4 with mild epiphyseal and metaphyseal changes + + + + BCYM4 + + @@ -252725,6 +300807,12 @@ SDHAF1 + + + + SDHAF1 + + @@ -252749,6 +300837,12 @@ TUBB2B + + + + TUBB2B + + @@ -252766,6 +300860,12 @@ narcolepsy 5, susceptibility to narcolepsy 5, susceptibility to + + + + NRCLP5 + + @@ -252779,6 +300879,12 @@ osteomyelitis, sterile multifocal, with periostitis and pustulosis chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis + + + + CRMO2 + + @@ -252796,6 +300902,12 @@ restless legs syndrome, susceptibility to, 7 restless legs syndrome, susceptibility to, 7 + + + + RLS7 + + @@ -252814,6 +300926,12 @@ orofacial cleft 12 orofacial cleft 12 + + + + OFC12 + + @@ -252881,6 +300999,12 @@ asparagine-linked glycosylation 14, s. cerevisiae, homolog of ALG14 + + + + ALG14 + + @@ -252892,6 +301016,12 @@ subepithelial mucinous corneal dystrophy corneal dystrophy, subepithelial mucinous + + + + SMCD + + @@ -252910,6 +301040,12 @@ posterior amorphous corneal dystrophy corneal dystrophy, posterior amorphous + + + + PACD + + @@ -252934,6 +301070,12 @@ PHIP + + + + PHIP + + @@ -252965,6 +301107,12 @@ gonadotropin-releasing hormone receptor 2 gonadotropin-releasing hormone receptor 2 + + + + GNRHR2 + + @@ -252976,6 +301124,12 @@ spinocerebellar ataxia 9 spinocerebellar ataxia 9 + + + + SCA9 + + @@ -252987,6 +301141,12 @@ cardiomyopathy, dilated, 1bb cardiomyopathy, dilated, 1bb + + + + CMD1BB + + @@ -253012,6 +301172,12 @@ EXPH5 + + + + EXPH5 + + @@ -253046,6 +301212,12 @@ menarche, age at, quantitative trait locus 2 menarche, age at, quantitative trait locus 2 + + + + MENAQ2 + + @@ -253062,6 +301234,12 @@ menarche, age at, quantitative trait locus 3 menarche, age at, quantitative trait locus 3 + + + + MENAQ3 + + @@ -253078,6 +301256,12 @@ menopause, natural, age at, quantitative trait locus 2 menopause, natural, age at, quantitative trait locus 2 + + + + MENOQ2 + + @@ -253103,6 +301287,12 @@ This term has one or more labels that end with ', INCLUDED'. premature ovarian failure 10 + + + + POF10 + + @@ -253119,6 +301309,12 @@ menopause, natural, age at, quantitative trait locus 4 menopause, natural, age at, quantitative trait locus 4 + + + + MENOQ4 + + @@ -253135,6 +301331,12 @@ stature quantitative trait locus 18 stature quantitative trait locus 18 + + + + STQTL18 + + @@ -253151,6 +301353,12 @@ stature quantitative trait locus 19 stature quantitative trait locus 19 + + + + STQTL19 + + @@ -253167,6 +301375,12 @@ stature quantitative trait locus 20 stature quantitative trait locus 20 + + + + STQTL20 + + @@ -253190,6 +301404,12 @@ NXN + + + + NXN + + @@ -253219,6 +301439,12 @@ coenzyme q4, s. cerevisiae, homolog of COQ4 + + + + COQ4 + + @@ -253230,6 +301456,12 @@ epilepsy, idiopathic generalized, susceptibility to, 8 epilepsy, idiopathic generalized, susceptibility to, 8 + + + + EIG8 + + @@ -253253,6 +301485,12 @@ cerebral palsy, spastic quadriplegic, 2 cerebral palsy, spastic quadriplegic, 2 + + + + CPSQ2 + + @@ -253277,6 +301515,12 @@ TUBB1 + + + + TUBB1 + + @@ -253300,6 +301544,12 @@ RAB32 + + + + RAB32 + + @@ -253330,6 +301580,12 @@ trna nucleotidyltransferase, cca-adding, 1 TRNT1 + + + + TRNT1 + + @@ -253342,6 +301598,12 @@ striate palmoplantar keratoderma 2 keratosis palmoplantaris striata 2 + + + + PPKS2 + + @@ -253366,6 +301628,12 @@ NDUFAF3 + + + + NDUFAF3 + + @@ -253381,6 +301649,12 @@ orofaciodigital syndrome 11 orofaciodigital syndrome 11 + + + + OFD11 + + @@ -253448,6 +301722,12 @@ thrombospondin-type laminin g domain and ear repeats TSPEAR + + + + TSPEAR + + @@ -253472,6 +301752,12 @@ three m syndrome 2 three m syndrome 2 + + + + 3M2 + + @@ -253496,6 +301782,12 @@ hemolytic uremic syndrome, atypical, susceptibility to, 2 hemolytic uremic syndrome, atypical, susceptibility to, 2 + + + + AHUS2 + + @@ -253508,6 +301800,12 @@ hemolytic uremic syndrome, atypical, susceptibility to, 3 hemolytic uremic syndrome, atypical, susceptibility to, 3 + + + + AHUS3 + + @@ -253520,6 +301818,12 @@ hemolytic uremic syndrome, atypical, susceptibility to, 4 hemolytic uremic syndrome, atypical, susceptibility to, 4 + + + + AHUS4 + + @@ -253532,6 +301836,12 @@ hemolytic uremic syndrome, atypical, susceptibility to, 5 hemolytic uremic syndrome, atypical, susceptibility to, 5 + + + + AHUS5 + + @@ -253544,6 +301854,12 @@ hemolytic uremic syndrome, atypical, susceptibility to, 6 hemolytic uremic syndrome, atypical, susceptibility to, 6 + + + + AHUS6 + + @@ -253584,6 +301900,12 @@ PGAM2 + + + + PGAM2 + + @@ -253610,6 +301932,12 @@ gsd 13 glycogen storage disease 13 + + + + GSD13 + + @@ -253635,6 +301963,12 @@ lactate dehydrogenase a deficiency glycogen storage disease 11 + + + + GSD11 + + @@ -253668,6 +302002,12 @@ spastic paraplegia 50, autosomal recessive spastic paraplegia 50, autosomal recessive + + + + SPG50 + + @@ -253683,6 +302023,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, dpm3-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 + + + + MDDGC15 + + @@ -253699,6 +302045,12 @@ growth retardation, developmental delay, and facial dysmorphism growth retardation, developmental delay, and facial dysmorphism + + + + GDFD + + @@ -253711,6 +302063,12 @@ cutis laxa, autosomal recessive, type 2b cutis laxa, autosomal recessive, type 2b + + + + ARCL2B + + @@ -253722,6 +302080,12 @@ retinitis pigmentosa 42 retinitis pigmentosa 42 + + + + RP42 + + @@ -253746,6 +302110,12 @@ RNASET2 + + + + RNASET2 + + @@ -253802,6 +302172,12 @@ hypomyelination, global cerebral developmental and epileptic encephalopathy 39 with leukodystrophy + + + + DEE39 + + @@ -253819,6 +302195,12 @@ psoriasis 12, susceptibility to psoriasis 12, susceptibility to + + + + PSORS12 + + @@ -253851,6 +302233,12 @@ aicardi-goutieres syndrome 5 aicardi-goutieres syndrome 5 + + + + AGS5 + + @@ -253863,6 +302251,12 @@ parkinson disease 14, autosomal recessive parkinson disease 14, autosomal recessive + + + + PARK14 + + @@ -253874,6 +302268,12 @@ myopathy, myofibrillar, 6 myopathy, myofibrillar, 6 + + + + MFM6 + + @@ -253897,6 +302297,12 @@ long qt syndrome 12 long qt syndrome 12 + + + + LQT12 + + @@ -253907,6 +302313,12 @@ ventricular fibrillation, paroxysmal familial, 2 ventricular fibrillation, paroxysmal familial, 2 + + + + VF2 + + @@ -253923,6 +302335,12 @@ vitamin b6 plasma level quantitative trait locus 1 vitamin b6 plasma level quantitative trait locus 1 + + + + B6QTL1 + + @@ -253949,6 +302367,12 @@ TACO1 + + + + TACO1 + + @@ -253973,6 +302397,12 @@ ESRP1 + + + + ESRP1 + + @@ -253996,6 +302426,12 @@ multiple synostoses syndrome 3 multiple synostoses syndrome 3 + + + + SYNS3 + + @@ -254009,6 +302445,12 @@ This term has one or more labels that end with ', INCLUDED'. premature ovarian failure 7 + + + + POF7 + + @@ -254024,6 +302466,12 @@ sex reversal, xy, with or without adrenal failure 46,xy sex reversal 3 + + + + SRXY3 + + @@ -254040,6 +302488,12 @@ body mass index quantitative trait locus 15 body mass index quantitative trait locus 15 + + + + BMIQ15 + + @@ -254053,6 +302507,12 @@ cataract, autosomal recessive congenital 3 cataract 34, multiple types + + + + CTRCT34 + + @@ -254064,6 +302524,12 @@ neuroblastoma breakpoint family, member 23, pseudogene neuroblastoma breakpoint family, member 17, pseudogene + + + + NBPF17P + + @@ -254098,6 +302564,12 @@ pdz domain-containing 7 PDZD7 + + + + PDZD7 + + @@ -254122,6 +302594,12 @@ short sleep, familial natural, 1 short sleep, familial natural, 1 + + + + FNSS1 + + @@ -254139,6 +302617,12 @@ presbycusis 2 age-related hearing impairment 2 + + + + ARHI2 + + @@ -254162,6 +302646,12 @@ TMEM126A + + + + TMEM126A + + @@ -254185,6 +302675,12 @@ optic atrophy 7 with or without auditory neuropathy optic atrophy 7 with or without auditory neuropathy + + + + OPA7 + + @@ -254215,6 +302711,12 @@ kiaa0978 ASXL1 + + + + ASXL1 + + @@ -254240,6 +302742,12 @@ ASXL2 + + + + ASXL2 + + @@ -254263,6 +302771,12 @@ RAB28 + + + + RAB28 + + @@ -254287,6 +302801,12 @@ spermatogenic failure 7 spermatogenic failure 7 + + + + SPGF7 + + @@ -254299,6 +302819,12 @@ emery-dreifuss muscular dystrophy 4, autosomal dominant emery-dreifuss muscular dystrophy 4, autosomal dominant + + + + EDMD4 + + @@ -254322,6 +302848,12 @@ emery-dreifuss muscular dystrophy 5, autosomal dominant emery-dreifuss muscular dystrophy 5, autosomal dominant + + + + EDMD5 + + @@ -254335,6 +302867,12 @@ ppkfne palmoplantar keratoderma, nonepidermolytic, focal 1 + + + + FNEPPK1 + + @@ -254345,6 +302883,12 @@ encephalocraniocutaneous lipomatosis encephalocraniocutaneous lipomatosis + + + + ECCL + + @@ -254361,6 +302905,12 @@ This term has one or more labels that end with ', INCLUDED'. immunodeficiency 83, susceptibility to viral infections + + + + IMD83 + + @@ -254371,6 +302921,12 @@ attention deficit-hyperactivity disorder, susceptibility to, 7 attention deficit-hyperactivity disorder, susceptibility to, 7 + + + + ADHD7 + + @@ -254401,6 +302957,12 @@ it15 HTT + + + + HTT + + @@ -254428,6 +302990,12 @@ type 1 diabetes mellitus 24 type 1 diabetes mellitus 24 + + + + T1D24 + + @@ -254445,6 +303013,12 @@ biliary cirrhosis, primary, 2 biliary cirrhosis, primary, 2 + + + + PBC2 + + @@ -254462,6 +303036,12 @@ biliary cirrhosis, primary, 3 biliary cirrhosis, primary, 3 + + + + PBC3 + + @@ -254487,6 +303067,12 @@ SEPSECS + + + + SEPSECS + + @@ -254510,6 +303096,12 @@ lymphoproliferative syndrome 1 lymphoproliferative syndrome 1 + + + + LPFS1 + + @@ -254534,6 +303126,12 @@ UROC1 + + + + UROC1 + + @@ -254546,6 +303144,12 @@ This term has one or more labels that end with ', INCLUDED'. neuroblastoma, susceptibility to, 2 + + + + NBLST2 + + @@ -254568,6 +303172,12 @@ neuroblastoma, susceptibility to, 3 neuroblastoma, susceptibility to, 3 + + + + NBLST3 + + @@ -254584,6 +303194,12 @@ neuroblastoma, susceptibility to, 4 neuroblastoma, susceptibility to, 4 + + + + NBLST4 + + @@ -254600,6 +303216,12 @@ neuroblastoma, susceptibility to, 5 neuroblastoma, susceptibility to, 5 + + + + NBLST5 + + @@ -254616,6 +303238,12 @@ neuroblastoma, susceptibility to, 6 neuroblastoma, susceptibility to, 6 + + + + NBLST6 + + @@ -254640,6 +303268,12 @@ TAT + + + + TAT + + @@ -254665,6 +303299,12 @@ SDHAF2 + + + + SDHAF2 + + @@ -254686,6 +303326,12 @@ cystic fibrosis-like syndrome bronchiectasis with or without elevated sweat chloride 2 + + + + BESC2 + + @@ -254711,6 +303357,12 @@ OGDH + + + + OGDH + + @@ -254727,6 +303379,12 @@ follicular lymphoma, susceptibility to, 1 follicular lymphoma, susceptibility to, 1 + + + + FL1 + + @@ -254744,6 +303402,12 @@ schizophrenia susceptibility locus, chromosome 15q13-q14-related schizophrenia 13 + + + + SCZD13 + + @@ -254783,6 +303447,12 @@ gsd ixc glycogen storage disease ixc + + + + GSD9C + + @@ -254794,6 +303464,12 @@ glioma susceptibility 2 glioma susceptibility 2 + + + + GLM2 + + @@ -254805,6 +303481,12 @@ glioma susceptibility 3 glioma susceptibility 3 + + + + GLM3 + + @@ -254822,6 +303504,12 @@ glioma susceptibility 5 glioma susceptibility 5 + + + + GLM5 + + @@ -254839,6 +303527,12 @@ glioma susceptibility 6 glioma susceptibility 6 + + + + GLM6 + + @@ -254862,6 +303556,12 @@ glioma susceptibility 7 glioma susceptibility 7 + + + + GLM7 + + @@ -254879,6 +303579,12 @@ glioma susceptibility 8 glioma susceptibility 8 + + + + GLM8 + + @@ -254898,6 +303604,12 @@ hearing loss, noise-induced, susceptibility to hearing loss, noise-induced, susceptibility to + + + + NIHL + + @@ -254923,6 +303635,12 @@ PMPCA + + + + PMPCA + + @@ -254951,6 +303669,12 @@ inositol polyphosphate-5-phosphatase, 72-kd INPP5E + + + + INPP5E + + @@ -254974,6 +303698,12 @@ pituitary hormone deficiency, combined or isolated, 1 pituitary hormone deficiency, combined or isolated, 1 + + + + CPHD1 + + @@ -254999,6 +303729,12 @@ CCDC26 + + + + CCDC26 + + @@ -255010,6 +303746,12 @@ atrial fibrillation, familial, 8 atrial fibrillation, familial, 8 + + + + ATFB8 + + @@ -255026,6 +303768,12 @@ basal cell carcinoma, susceptibility to, 2 basal cell carcinoma, susceptibility to, 2 + + + + BCC2 + + @@ -255042,6 +303790,12 @@ basal cell carcinoma, susceptibility to, 3 basal cell carcinoma, susceptibility to, 3 + + + + BCC3 + + @@ -255071,6 +303825,12 @@ This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized, susceptibility to, 10 + + + + EIG10 + + @@ -255087,6 +303847,12 @@ basal cell carcinoma, susceptibility to, 4 basal cell carcinoma, susceptibility to, 4 + + + + BCC4 + + @@ -255103,6 +303869,12 @@ basal cell carcinoma, susceptibility to, 5 basal cell carcinoma, susceptibility to, 5 + + + + BCC5 + + @@ -255119,6 +303891,12 @@ basal cell carcinoma, susceptibility to, 6 basal cell carcinoma, susceptibility to, 6 + + + + BCC6 + + @@ -255136,6 +303914,12 @@ dermatitis, atopic, 7 dermatitis, atopic, 7 + + + + ATOD7 + + @@ -255183,6 +303967,12 @@ This term has one or more labels that end with ', INCLUDED'. leukemia, acute lymphoblastic + + + + ALL + + @@ -255200,6 +303990,12 @@ leukemia, acute lymphocytic, susceptibility to, 2 leukemia, acute lymphoblastic, susceptibility to, 2 + + + + ALL2 + + @@ -255222,6 +304018,12 @@ neurodegeneration due to cerebral folate transport deficiency neurodegeneration due to cerebral folate transport deficiency + + + + NCFTD + + @@ -255232,6 +304034,12 @@ liver failure, infantile, transient liver failure, infantile, transient + + + + LFIT + + @@ -255244,6 +304052,12 @@ cystic fibrosis-like syndrome bronchiectasis with or without elevated sweat chloride 3 + + + + BESC3 + + @@ -255267,6 +304081,12 @@ LOXHD1 + + + + LOXHD1 + + @@ -255289,6 +304109,12 @@ metaphyseal anadysplasia 2 metaphyseal anadysplasia 2 + + + + MANDP2 + + @@ -255312,6 +304138,12 @@ deafness, autosomal dominant 50 deafness, autosomal dominant 50 + + + + DFNA50 + + @@ -255359,6 +304191,12 @@ myopathy, mitochondrial progressive, with congenital cataract and developmental delay myopathy, mitochondrial progressive, with congenital cataract and developmental delay + + + + MPMCD + + @@ -255371,6 +304209,12 @@ progressive external ophthalmoplegia, autosomal dominant 5 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 + + + + PEOA5 + + @@ -255396,6 +304240,12 @@ rad50 deficiency nijmegen breakage syndrome-like disorder + + + + NBSLD + + @@ -255419,6 +304269,12 @@ deafness, autosomal recessive 77 deafness, autosomal recessive 77 + + + + DFNB77 + + @@ -255446,6 +304302,12 @@ sex reversal, xy, cbx2-related 46,xy sex reversal 5 + + + + SRXY5 + + @@ -255470,6 +304332,12 @@ MYT1L + + + + MYT1L + + @@ -255486,6 +304354,12 @@ glaucoma 3, primary congenital, c glaucoma 3, primary congenital, c + + + + GLC3C + + @@ -255496,6 +304370,12 @@ glaucoma 3, primary congenital, d glaucoma 3, primary congenital, d + + + + GLC3D + + @@ -255519,6 +304399,12 @@ atrial septal defect 6 atrial septal defect 6 + + + + ASD6 + + @@ -255569,6 +304455,12 @@ bartter syndrome, type 4b, neonatal, with sensorineural deafness bartter syndrome, type 4b, neonatal, with sensorineural deafness + + + + BARTS4B + + @@ -255600,6 +304492,12 @@ verma-naumoff syndrome short-rib thoracic dysplasia 3 with or without polydactyly + + + + SRTD3 + + @@ -255613,6 +304511,12 @@ tubulointerstitial kidney disease, autosomal dominant, 4 tubulointerstitial kidney disease, autosomal dominant, 4 + + + + ADTKD4 + + @@ -255638,6 +304542,12 @@ This term has one or more labels that end with ', INCLUDED'. cone dystrophy 4 + + + + COD4 + + @@ -255649,6 +304559,12 @@ microphthalmia, isolated 4 microphthalmia, isolated 4 + + + + MCOP4 + + @@ -255673,6 +304589,12 @@ polycystic kidney disease, adult, type 2 polycystic kidney disease 2 with or without polycystic liver disease + + + + PKD2 + + @@ -255690,6 +304612,12 @@ spastic paraplegia 36, autosomal dominant spastic paraplegia 36, autosomal dominant + + + + SPG36 + + @@ -255719,6 +304647,12 @@ melanoma, cutaneous malignant, susceptibility to, 5 melanoma, cutaneous malignant, susceptibility to, 5 + + + + CMM5 + + @@ -255741,6 +304675,12 @@ glaucoma 1, open angle, o glaucoma 1, open angle, o + + + + GLC1O + + @@ -255764,6 +304704,12 @@ hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease + + + + FHL5 + + @@ -255786,6 +304732,12 @@ hypotrichosis and recurrent skin vesicles hypotrichosis and recurrent skin vesicles + + + + HYPTSV + + @@ -255798,6 +304750,12 @@ macular dystrophy, progressive choroidal dystrophy, central areolar 2 + + + + CACD2 + + @@ -255814,6 +304772,12 @@ vertigo, benign recurrent, 2 vertigo, benign recurrent, 2 + + + + BRV2 + + @@ -255825,6 +304789,12 @@ neutropenia, severe congenital, 2, autosomal dominant neutropenia, severe congenital, 2, autosomal dominant + + + + SCN2 + + @@ -255837,6 +304807,12 @@ candidiasis, familial, 4 candidiasis, familial, 4 + + + + CANDF4 + + @@ -255860,6 +304836,12 @@ GM2A + + + + GM2A + + @@ -255888,6 +304870,12 @@ CTSA + + + + CTSA + + @@ -255911,6 +304899,12 @@ macrothrombocytopenia, isolated, 1, autosomal dominant macrothrombocytopenia, isolated, 1, autosomal dominant + + + + MACTHC1 + + @@ -255958,6 +304952,12 @@ neurofibromin 1 NF1 + + + + NF1 + + @@ -255983,6 +304983,12 @@ RETREG1 + + + + RETREG1 + + @@ -256006,6 +305012,12 @@ neuropathy, hereditary sensory and autonomic, type 2b neuropathy, hereditary sensory and autonomic, type 2b + + + + HSAN2B + + @@ -256031,6 +305043,12 @@ This term has one or more labels that end with ', INCLUDED'. thrombophilia due to histidine-rich glycoprotein deficiency + + + + THPH11 + + @@ -256055,6 +305073,12 @@ thrombophilia due to antithrombin 3 deficiency antithrombin 3 deficiency + + + + AT3D + + @@ -256078,6 +305102,12 @@ brugada syndrome 6 brugada syndrome 6 + + + + BRGDA6 + + @@ -256092,6 +305122,12 @@ This term has one or more labels that end with ', INCLUDED'. brugada syndrome 7 + + + + BRGDA7 + + @@ -256122,6 +305158,12 @@ nexilin-like protein NEXN + + + + NEXN + + @@ -256133,6 +305175,12 @@ cardiomyopathy, dilated, 1cc cardiomyopathy, dilated, 1cc + + + + CMD1CC + + @@ -256144,6 +305192,12 @@ brugada syndrome 8 brugada syndrome 8 + + + + BRGDA8 + + @@ -256178,6 +305232,12 @@ STN1 + + + + STN1 + + @@ -256203,6 +305263,12 @@ CTC1 + + + + CTC1 + + @@ -256216,6 +305282,12 @@ pkdys parkinsonism-dystonia 1, infantile-onset + + + + PKDYS1 + + @@ -256240,6 +305312,12 @@ TSPAN12 + + + + TSPAN12 + + @@ -256252,6 +305330,12 @@ choroidal dystrophy, central areolar, with or without drusen choroidal dystrophy, central areolar, 3 + + + + CACD3 + + @@ -256268,6 +305352,12 @@ systemic lupus erythematosus, susceptibility to, 14 systemic lupus erythematosus, susceptibility to, 14 + + + + SLEB14 + + @@ -256295,6 +305385,12 @@ MIR184 + + + + MIR184 + + @@ -256319,6 +305415,12 @@ inflammatory bowel disease, early-onset, autosomal recessive inflammatory bowel disease 28, autosomal recessive + + + + IBD28 + + @@ -256331,6 +305433,12 @@ walker-warburg syndrome or muscle-eye-brain disease, pomt2-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 + + + + MDDGA2 + + @@ -256343,6 +305451,12 @@ muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 + + + + MDDGB3 + + @@ -256355,6 +305469,12 @@ muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 + + + + MDDGB4 + + @@ -256367,6 +305487,12 @@ walker-warburg syndrome or muscle-eye-brain disease, fkrp-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 + + + + MDDGA5 + + @@ -256379,6 +305505,12 @@ walker-warburg syndrome or muscle-eye-brain disease, large-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 + + + + MDDGA6 + + @@ -256391,6 +305523,12 @@ muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1 + + + + MDDGB1 + + @@ -256403,6 +305541,12 @@ muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2 + + + + MDDGB2 + + @@ -256418,6 +305562,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3 + + + + MDDGC3 + + @@ -256433,6 +305583,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2 + + + + MDDGC2 + + @@ -256456,6 +305612,12 @@ nephronophthisis-like nephropathy 1 nephronophthisis-like nephropathy 1 + + + + NPHPL1 + + @@ -256491,6 +305653,12 @@ von willebrand factor VWF + + + + VWF + + @@ -256513,6 +305681,12 @@ beta-ureidopropionase deficiency beta-ureidopropionase deficiency + + + + UPB1D + + @@ -256536,6 +305710,12 @@ spastic paraplegia 45, autosomal recessive spastic paraplegia 45, autosomal recessive + + + + SPG45 + + @@ -256558,6 +305738,12 @@ gaba-transaminase deficiency gaba-transaminase deficiency + + + + GABATD + + @@ -256575,6 +305761,12 @@ parkinson disease 16 parkinson disease 16 + + + + PARK16 + + @@ -256604,6 +305796,12 @@ soluble calcium-activated nucleotidase 1 CANT1 + + + + CANT1 + + @@ -256629,6 +305827,12 @@ SERPINF2 + + + + SERPINF2 + + @@ -256652,6 +305856,12 @@ KLHDC8B + + + + KLHDC8B + + @@ -256675,6 +305885,12 @@ RBM20 + + + + RBM20 + + @@ -256698,6 +305914,12 @@ cardiomyopathy, dilated, 1dd cardiomyopathy, dilated, 1dd + + + + CMD1DD + + @@ -256737,6 +305959,12 @@ SMG8 + + + + SMG8 + + @@ -256766,6 +305994,12 @@ smg9 nonsense-mediated mrna decay factor SMG9 + + + + SMG9 + + @@ -256791,6 +306025,12 @@ urban-rifkin-davis syndrome cutis laxa, autosomal recessive, type 1c + + + + ARCL1C + + @@ -256846,6 +306086,12 @@ BOLA3 + + + + BOLA3 + + @@ -256871,6 +306117,12 @@ DNAAF1 + + + + DNAAF1 + + @@ -256895,6 +306147,12 @@ mental retardation, autosomal recessive 13 intellectual developmental disorder, autosomal recessive 13 + + + + MRT13 + + @@ -256919,6 +306177,12 @@ ciliary dyskinesia, primary, 13, with or without situs inversus ciliary dyskinesia, primary, 13 + + + + CILD13 + + @@ -256932,6 +306196,12 @@ This term has one or more labels that end with ', INCLUDED'. retinitis pigmentosa 50 + + + + RP50 + + @@ -256956,6 +306226,12 @@ weill-marchesani-like syndrome weill-marchesani syndrome 4 + + + + WMS4 + + @@ -256999,6 +306275,12 @@ spastic paraplegia 44, autosomal recessive spastic paraplegia 44, autosomal recessive + + + + SPG44 + + @@ -257017,6 +306299,12 @@ This term has one or more labels that end with ', INCLUDED'. asthma-related traits, susceptibility to, 8 + + + + ASRT8 + + @@ -257043,6 +306331,12 @@ XPC + + + + XPC + + @@ -257066,6 +306360,12 @@ amelogenesis imperfecta, hypomaturation type, iia3 amelogenesis imperfecta, hypomaturation type, iia3 + + + + AI2A3 + + @@ -257090,6 +306390,12 @@ nadh-diaphorase 1 CYB5R3 + + + + CYB5R3 + + @@ -257113,6 +306419,12 @@ WDR72 + + + + WDR72 + + @@ -257152,6 +306464,12 @@ night blindness, congenital stationary, type 1c night blindness, congenital stationary, type 1c + + + + CSNB1C + + @@ -257165,6 +306483,12 @@ intestinal epithelial cell dysplasia diarrhea 5, with tufting enteropathy, congenital + + + + DIAR5 + + @@ -257191,6 +306515,12 @@ CYB5A + + + + CYB5A + + @@ -257215,6 +306545,12 @@ This term has one or more labels that end with ', INCLUDED'. fasting plasma glucose level quantitative trait locus 2 + + + + FGQTL2 + + @@ -257227,6 +306563,12 @@ This term has one or more labels that end with ', INCLUDED'. leprosy, susceptibility to, 5 + + + + LPRS5 + + @@ -257238,6 +306580,12 @@ noonan syndrome 6 noonan syndrome 6 + + + + NS6 + + @@ -257274,6 +306622,12 @@ spinocerebellar ataxia, autosomal recessive 34 spinocerebellar ataxia, autosomal recessive 34 + + + + SCAR34 + + @@ -257298,6 +306652,12 @@ AGA + + + + AGA + + @@ -257308,6 +306668,12 @@ trichotillomania trichotillomania + + + + TTM + + @@ -257333,6 +306699,12 @@ PEPD + + + + PEPD + + @@ -257357,6 +306729,12 @@ KIF26A + + + + KIF26A + + @@ -257373,6 +306751,12 @@ fasting plasma glucose level quantitative trait locus 3 fasting plasma glucose level quantitative trait locus 3 + + + + FGQTL3 + + @@ -257418,6 +306802,12 @@ KCNJ18 + + + + KCNJ18 + + @@ -257430,6 +306820,12 @@ glomerulosclerosis, focal segmental, 5 focal segmental glomerulosclerosis 5 + + + + FSGS5 + + @@ -257447,6 +306843,12 @@ spondyloarthropathy, susceptibility to, 3 spondyloarthropathy, susceptibility to, 3 + + + + SPDA3 + + @@ -257470,6 +306872,12 @@ thyrotoxic periodic paralysis, susceptibility to, 2 thyrotoxic periodic paralysis, susceptibility to, 2 + + + + TTPP2 + + @@ -257490,6 +306898,12 @@ cardiomyopathy, familial hypertrophic, 13 cardiomyopathy, familial hypertrophic, 13 + + + + CMH13 + + @@ -257502,6 +306916,12 @@ lynch syndrome 8 lynch syndrome 8 + + + + LYNCH8 + + @@ -257527,6 +306947,12 @@ PLIN4 + + + + PLIN4 + + @@ -257538,6 +306964,12 @@ cardiomyopathy, familial hypertrophic, 14 cardiomyopathy, familial hypertrophic, 14 + + + + CMH14 + + @@ -257549,6 +306981,12 @@ cardiomyopathy, dilated, 1ee cardiomyopathy, dilated, 1ee + + + + CMD1EE + + @@ -257571,6 +307009,12 @@ This term has one or more labels that end with ', INCLUDED'. tuberous sclerosis 2 + + + + TSC2 + + @@ -257582,6 +307026,12 @@ cardiomyopathy, familial hypertrophic, 15 cardiomyopathy, familial hypertrophic, 15 + + + + CMH15 + + @@ -257606,6 +307056,12 @@ PPP1R15B + + + + PPP1R15B + + @@ -257618,6 +307074,12 @@ waardenburg syndrome, type 4b, with hirschsprung disease waardenburg syndrome, type 4b + + + + WS4B + + @@ -257630,6 +307092,12 @@ waardenburg syndrome, type 4c waardenburg syndrome, type 4c + + + + WS4C + + @@ -257643,6 +307111,12 @@ fcd2 locus corneal dystrophy, fuchs endothelial, 3 + + + + FECD3 + + @@ -257655,6 +307129,12 @@ corneal dystrophy, fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, 4 + + + + FECD4 + + @@ -257674,6 +307154,12 @@ fcd3 locus corneal dystrophy, fuchs endothelial, 5 + + + + FECD5 + + @@ -257686,6 +307172,12 @@ corneal dystrophy, fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, 6 + + + + FECD6 + + @@ -257705,6 +307197,12 @@ fcd4 locus corneal dystrophy, fuchs endothelial, 7 + + + + FECD7 + + @@ -257730,6 +307228,12 @@ MOCOS + + + + MOCOS + + @@ -257755,6 +307259,12 @@ USB1 + + + + USB1 + + @@ -257783,6 +307293,12 @@ transmembrane protein 216 TMEM216 + + + + TMEM216 + + @@ -257811,6 +307327,12 @@ SLX4 + + + + SLX4 + + @@ -257859,6 +307381,12 @@ hypermanganesemia with dystonia, polycythemia, and cirrhosis hypermanganesemia with dystonia 1 + + + + HMNDYT1 + + @@ -257877,6 +307405,12 @@ liver disease, alcoholic, susceptibility to, 1 fatty liver disease, susceptibility to, 1 + + + + FLD1 + + @@ -257900,6 +307434,12 @@ GRXCR1 + + + + GRXCR1 + + @@ -257917,6 +307457,12 @@ hematocrit/hemoglobin quantitative trait locus on chromosome 22 hematocrit/hemoglobin quantitative trait locus 3 + + + + HCHGQ3 + + @@ -257940,6 +307486,12 @@ deafness, autosomal recessive 25 deafness, autosomal recessive 25 + + + + DFNB25 + + @@ -257951,6 +307503,12 @@ cardiomyopathy, dilated, 1ff cardiomyopathy, dilated, 1ff + + + + CMD1FF + + @@ -257964,6 +307522,12 @@ charcot-marie-tooth neuropathy, axonal, type 2n charcot-marie-tooth disease, axonal, type 2n + + + + CMT2N + + @@ -257987,6 +307551,12 @@ ATXN8 + + + + ATXN8 + + @@ -258003,6 +307573,12 @@ hearing loss, cisplatin-induced, susceptibility to hearing loss, cisplatin-induced, susceptibility to + + + + CIHL + + @@ -258026,6 +307602,12 @@ pbam bile acid malabsorption, primary, 1 + + + + PBAM1 + + @@ -258051,6 +307633,12 @@ SH3PXD2B + + + + SH3PXD2B + + @@ -258076,6 +307664,12 @@ UBA2 + + + + UBA2 + + @@ -258103,6 +307697,12 @@ MARCHF6 + + + + MARCHF6 + + @@ -258128,6 +307728,12 @@ FEZF1 + + + + FEZF1 + + @@ -258153,6 +307759,12 @@ ALKBH8 + + + + ALKBH8 + + @@ -258176,6 +307788,12 @@ deafness, autosomal recessive 79 deafness, autosomal recessive 79 + + + + DFNB79 + + @@ -258199,6 +307817,12 @@ diamond-blackfan anemia 9 diamond-blackfan anemia 9 + + + + DBA9 + + @@ -258222,6 +307846,12 @@ diamond-blackfan anemia 10 diamond-blackfan anemia 10 + + + + DBA10 + + @@ -258245,6 +307875,12 @@ exudative vitreoretinopathy 5 exudative vitreoretinopathy 5 + + + + EVR5 + + @@ -258270,6 +307906,12 @@ LYRM4 + + + + LYRM4 + + @@ -258281,6 +307923,12 @@ hypophosphatemic rickets, autosomal recessive, 2 hypophosphatemic rickets, autosomal recessive, 2 + + + + ARHR2 + + @@ -258304,6 +307952,12 @@ hemochromatosis, type 2b hemochromatosis, type 2b + + + + HFE2B + + @@ -258322,6 +307976,12 @@ miyoshi myopathy 2 miyoshi muscular dystrophy 2 + + + + MMD2 + + @@ -258334,6 +307994,12 @@ miyoshi myopathy 3 miyoshi muscular dystrophy 3 + + + + MMD3 + + @@ -258358,6 +308024,12 @@ spondylometaphyseal dysplasia, megarbane-dagher-melki type spondylometaphyseal dysplasia, megarbane-dagher-melki type + + + + SMDMDM + + @@ -258369,6 +308041,12 @@ rhabdoid tumor predisposition syndrome 2 rhabdoid tumor predisposition syndrome 2 + + + + RTPS2 + + @@ -258393,6 +308071,12 @@ DPYS + + + + DPYS + + @@ -258418,6 +308102,12 @@ lipodystrophy, congenital generalized, type 4 lipodystrophy, congenital generalized, type 4 + + + + CGL4 + + @@ -258441,6 +308131,12 @@ roifman-chitayat syndrome roifman-chitayat syndrome + + + + ROCHIS + + @@ -258473,6 +308169,12 @@ spondylo-megaepiphyseal-metaphyseal dysplasia spondylo-megaepiphyseal-metaphyseal dysplasia + + + + SMMD + + @@ -258490,6 +308192,12 @@ epilepsy, hot water, 1 epilepsy, hot water, 1 + + + + HWE1 + + @@ -258507,6 +308215,12 @@ epilepsy, hot water, 2 epilepsy, hot water, 2 + + + + HWE2 + + @@ -258521,6 +308235,12 @@ This term has one or more labels that end with ', INCLUDED'. leber congenital amaurosis 14 + + + + LCA14 + + @@ -258566,6 +308286,12 @@ KIAA1549 + + + + KIAA1549 + + @@ -258576,6 +308302,12 @@ hypokalemic periodic paralysis, type 2 hypokalemic periodic paralysis, type 2 + + + + HOKPP2 + + @@ -258621,6 +308353,12 @@ OAT + + + + OAT + + @@ -258652,6 +308390,12 @@ solute carrier family 52 (riboflavin transporter), member 3 SLC52A3 + + + + SLC52A3 + + @@ -258676,6 +308420,12 @@ RSRC1 + + + + RSRC1 + + @@ -258687,6 +308437,12 @@ mononeuropathy of the median nerve, mild mononeuropathy of the median nerve, mild + + + + MNMN + + @@ -258711,6 +308467,12 @@ TPRN + + + + TPRN + + @@ -258750,6 +308512,12 @@ DRAM2 + + + + DRAM2 + + @@ -258773,6 +308541,12 @@ WDR34 + + + + WDR34 + + @@ -258790,6 +308564,12 @@ spastic paraplegia 41, autosomal dominant spastic paraplegia 41, autosomal dominant + + + + SPG41 + + @@ -258800,6 +308580,12 @@ maturity-onset diabetes of the young, type 10 maturity-onset diabetes of the young, type 10 + + + + MODY10 + + @@ -258817,6 +308603,12 @@ spinocerebellar ataxia 30 spinocerebellar ataxia 30 + + + + SCA30 + + @@ -258841,6 +308633,12 @@ YEATS2 + + + + YEATS2 + + @@ -258863,6 +308661,12 @@ maturity-onset diabetes of the young, type 11 maturity-onset diabetes of the young, type 11 + + + + MODY11 + + @@ -258890,6 +308694,12 @@ neuropathy, distal hereditary motor, harding type 2c neuronopathy, distal hereditary motor, autosomal dominant 4 + + + + HMND4 + + @@ -258912,6 +308722,12 @@ cystathionine beta-synthase CBS + + + + CBS + + @@ -258934,6 +308750,12 @@ brachydactyly, type e2 brachydactyly, type e2 + + + + BDE2 + + @@ -258956,6 +308778,12 @@ autoimmune disease, multisystem, with facial dysmorphism autoimmune disease, multisystem, with facial dysmorphism + + + + ADMFD + + @@ -258986,6 +308814,12 @@ ump1, yeast, homolog of POMP + + + + POMP + + @@ -259002,6 +308836,12 @@ fatty liver disease, susceptibility to, 2 fatty liver disease, susceptibility to, 2 + + + + FLD2 + + @@ -259013,6 +308853,12 @@ fanconi renotubular syndrome 2 fanconi renotubular syndrome 2 + + + + FRTS2 + + @@ -259024,6 +308870,12 @@ fanconi anemia, complementation group o fanconi anemia, complementation group o + + + + FANCO + + @@ -259037,6 +308889,12 @@ deafness, autosomal recessive 84a, with vestibular dysfunction deafness, autosomal recessive 84a + + + + DFNB84A + + @@ -259054,6 +308912,12 @@ deafness, autosomal recessive 85 deafness, autosomal recessive 85 + + + + DFNB85 + + @@ -259099,6 +308963,12 @@ AVIL + + + + AVIL + + @@ -259121,6 +308991,12 @@ warsaw breakage syndrome warsaw breakage syndrome + + + + WABS + + @@ -259135,6 +309011,12 @@ This term has one or more labels that end with ', INCLUDED'. breast-ovarian cancer, familial, susceptibility to, 3 + + + + BROVCA3 + + @@ -259162,6 +309044,12 @@ VIPAS39 + + + + VIPAS39 + + @@ -259175,6 +309063,12 @@ microcephaly, seizures, and developmental delay microcephaly, seizures, and developmental delay + + + + MCSZ + + @@ -259198,6 +309092,12 @@ TMEM127 + + + + TMEM127 + + @@ -259221,6 +309121,12 @@ arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis, renal dysfunction, and cholestasis 2 + + + + ARCS2 + + @@ -259246,6 +309152,12 @@ MIR2861 + + + + MIR2861 + + @@ -259271,6 +309183,12 @@ This term has one or more labels that end with ', INCLUDED'. witteveen-kolk syndrome + + + + WITKOS + + @@ -259287,6 +309205,12 @@ leprosy, susceptibility to, 6 leprosy, susceptibility to, 6 + + + + LPRS6 + + @@ -259312,6 +309236,12 @@ LACC1 + + + + LACC1 + + @@ -259336,6 +309266,12 @@ autism, susceptibility to, 16 autism, susceptibility to, 16 + + + + AUTS16 + + @@ -259375,6 +309311,12 @@ esophagitis, eosinophilic, 2 esophagitis, eosinophilic, 2 + + + + EOE2 + + @@ -259398,6 +309340,12 @@ TMEM106B + + + + TMEM106B + + @@ -259423,6 +309371,12 @@ osteoporosis, susceptibility to bone mineral density quantitative trait locus 15 + + + + BMND15 + + @@ -259446,6 +309400,12 @@ KCTD1 + + + + KCTD1 + + @@ -259460,6 +309420,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, dilated, 1r + + + + CMD1R + + @@ -259484,6 +309450,12 @@ PCARE + + + + PCARE + + @@ -259498,6 +309470,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, dilated, 1s + + + + CMD1S + + @@ -259524,6 +309502,12 @@ This term has one or more labels that end with ', INCLUDED'. retinitis pigmentosa 54 + + + + RP54 + + @@ -259535,6 +309519,12 @@ amyotrophic lateral sclerosis 12 with or without frontotemporal dementia amyotrophic lateral sclerosis 12 with or without frontotemporal dementia + + + + ALS12 + + @@ -259558,6 +309548,12 @@ autism, susceptibility to, 17 autism, susceptibility to, 17 + + + + AUTS17 + + @@ -259581,6 +309577,12 @@ FCHO1 + + + + FCHO1 + + @@ -259597,6 +309599,12 @@ stature quantitative trait locus 21 stature quantitative trait locus 21 + + + + STQTL21 + + @@ -259622,6 +309630,12 @@ TCN2 + + + + TCN2 + + @@ -259636,6 +309650,12 @@ This term has one or more labels that end with ', INCLUDED'. neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language + + + + NEDHSIL + + @@ -259691,6 +309711,12 @@ coiled-coil domain-containing protein 100 CEP120 + + + + CEP120 + + @@ -259702,6 +309728,12 @@ frontonasal dysplasia 2 frontonasal dysplasia 2 + + + + FND2 + + @@ -259725,6 +309757,12 @@ deafness, autosomal recessive 91 deafness, autosomal recessive 91 + + + + DFNB91 + + @@ -259773,6 +309811,12 @@ MIA3 + + + + MIA3 + + @@ -259796,6 +309840,12 @@ frontonasal dysplasia 3 frontonasal dysplasia 3 + + + + FND3 + + @@ -259843,6 +309893,12 @@ birth weight quantitative trait locus 2 birth weight quantitative trait locus 2 + + + + BWQTL2 + + @@ -259862,6 +309918,12 @@ This term has one or more labels that end with ', INCLUDED'. fasting plasma glucose level quantitative trait locus 6 + + + + FGQTL6 + + @@ -259878,6 +309940,12 @@ fasting plasma glucose level quantitative trait locus 4 fasting plasma glucose level quantitative trait locus 4 + + + + FGQTL4 + + @@ -259900,6 +309968,12 @@ fasting plasma glucose level quantitative trait locus 5 fasting plasma glucose level quantitative trait locus 5 + + + + FGQTL5 + + @@ -259911,6 +309985,12 @@ retinitis pigmentosa 51 retinitis pigmentosa 51 + + + + RP51 + + @@ -259944,6 +310024,12 @@ n-acylsphingosine deacylase ASAH1 + + + + ASAH1 + + @@ -259968,6 +310054,12 @@ HPSE2 + + + + HPSE2 + + @@ -260011,6 +310103,12 @@ epileptic encephalopathy, early infantile, 5 developmental and epileptic encephalopathy 5 + + + + DEE5 + + @@ -260023,6 +310121,12 @@ lymphedema, hereditary, ic, formerly lymphatic malformation 3 + + + + LMPHM3 + + @@ -260073,6 +310177,12 @@ SPEN + + + + SPEN + + @@ -260084,6 +310194,12 @@ long qt syndrome 13 long qt syndrome 13 + + + + LQT13 + + @@ -260111,6 +310227,12 @@ congenital disorder of glycosylation, type iij congenital disorder of glycosylation, type iij + + + + CDG2J + + @@ -260121,6 +310243,12 @@ alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency + + + + A1ATD + + @@ -260145,6 +310273,12 @@ immunodeficiency, common variable, 3 immunodeficiency, common variable, 3 + + + + CVID3 + + @@ -260169,6 +310303,12 @@ immunodeficiency, common variable, 4 immunodeficiency, common variable, 4 + + + + CVID4 + + @@ -260193,6 +310333,12 @@ immunodeficiency, common variable, 5 immunodeficiency, common variable, 5 + + + + CVID5 + + @@ -260217,6 +310363,12 @@ immunodeficiency, common variable, 6 immunodeficiency, common variable, 6 + + + + CVID6 + + @@ -260247,6 +310399,12 @@ lysosomal acid lipase LIPA + + + + LIPA + + @@ -260264,6 +310422,12 @@ testosterone circulating level quantitative trait locus, due to sex hormone-binding globulin sex hormone-binding globulin circulating level quantitative trait locus + + + + SXGQTL1 + + @@ -260288,6 +310452,12 @@ agammaglobulinemia, autosomal recessive, due to igll1 defect agammaglobulinemia 2, autosomal recessive + + + + AGM2 + + @@ -260312,6 +310482,12 @@ agammaglobulinemia, autosomal recessive, due to cd79a defect agammaglobulinemia 3, autosomal recessive + + + + AGM3 + + @@ -260336,6 +310512,12 @@ agammaglobulinemia, autosomal recessive, due to blnk defect agammaglobulinemia 4, autosomal recessive + + + + AGM4 + + @@ -260360,6 +310542,12 @@ agammaglobulinemia, autosomal dominant, due to lrrc8a defect agammaglobulinemia 5, autosomal dominant + + + + AGM5 + + @@ -260373,6 +310561,12 @@ gsd 15 glycogen storage disease 15 + + + + GSD15 + + @@ -260385,6 +310579,12 @@ This term has one or more labels that end with ', INCLUDED'. sodium serum level quantitative trait locus 1 + + + + SSQTL1 + + @@ -260426,6 +310626,12 @@ RUBCN + + + + RUBCN + + @@ -260450,6 +310656,12 @@ microphthalmia, posterior nonsyndromic microphthalmia, isolated 6 + + + + MCOP6 + + @@ -260468,6 +310680,12 @@ dermatitis, atopic, severity of dermatitis, atopic, 8 + + + + ATOD8 + + @@ -260485,6 +310703,12 @@ dermatitis, atopic, 9 dermatitis, atopic, 9 + + + + ATOD9 + + @@ -260507,6 +310731,12 @@ uroporphyrinogen decarboxylase UROD + + + + UROD + + @@ -260531,6 +310761,12 @@ OPN1SW + + + + OPN1SW + + @@ -260581,6 +310817,12 @@ slsn7 gene SDCCAG8 + + + + SDCCAG8 + + @@ -260610,6 +310852,12 @@ kiaa0912 CEP152 + + + + CEP152 + + @@ -260627,6 +310875,12 @@ muscular dystrophy, limb-girdle, type 1h muscular dystrophy, limb-girdle, type 1h + + + + LGMD1H + + @@ -260667,6 +310921,12 @@ FAN1 + + + + FAN1 + + @@ -260697,6 +310957,12 @@ small subunit of serine palmitoyltransferase a SPTSSA + + + + SPTSSA + + @@ -260726,6 +310992,12 @@ mitochondrial translation release factor 1n rescue MTRFR + + + + MTRFR + + @@ -260787,6 +311059,12 @@ stature quantitative trait locus 22 stature quantitative trait locus 22 + + + + STQTL22 + + @@ -260803,6 +311081,12 @@ stature quantitative trait locus 23 stature quantitative trait locus 23 + + + + STQTL23 + + @@ -260819,6 +311103,12 @@ stature quantitative trait locus 24 stature quantitative trait locus 24 + + + + STQTL24 + + @@ -260830,6 +311120,12 @@ nephronophthisis 11 nephronophthisis 11 + + + + NPHP11 + + @@ -260852,6 +311148,12 @@ autoimmune disease, susceptibility to, 6 autoimmune disease, susceptibility to, 6 + + + + AIS6 + + @@ -260876,6 +311178,12 @@ XPNPEP3 + + + + XPNPEP3 + + @@ -260892,6 +311200,12 @@ This term has one or more labels that end with ', INCLUDED'. von willebrand disease, type 2 + + + + VWD2 + + @@ -260917,6 +311231,12 @@ TET3 + + + + TET3 + + @@ -260944,6 +311264,12 @@ deafness, autosomal dominant 51 deafness, autosomal dominant 51 + + + + DFNA51 + + @@ -260955,6 +311281,12 @@ combined oxidative phosphorylation deficiency 7 combined oxidative phosphorylation deficiency 7 + + + + COXPD7 + + @@ -260978,6 +311310,12 @@ myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia 2 + + + + MLASA2 + + @@ -260990,6 +311328,12 @@ noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia + + + + NSLL + + @@ -261016,6 +311360,12 @@ hereditary persistence of fetal hemoglobin, klf1-related fetal hemoglobin quantitative trait locus 6 + + + + HBFQTL6 + + @@ -261050,6 +311400,12 @@ ectodermal dysplasia-syndactyly syndrome 1 ectodermal dysplasia-syndactyly syndrome 1 + + + + EDSS1 + + @@ -261061,6 +311417,12 @@ retinitis pigmentosa 55 retinitis pigmentosa 55 + + + + RP55 + + @@ -261078,6 +311440,12 @@ ectodermal dysplasia-syndactyly syndrome 2 ectodermal dysplasia-syndactyly syndrome 2 + + + + EDSS2 + + @@ -261132,6 +311500,12 @@ tbc1 domain family, member 24 TBC1D24 + + + + TBC1D24 + + @@ -261163,6 +311537,12 @@ wd repeat-containing planar cell polarity effector WDPCP + + + + WDPCP + + @@ -261174,6 +311554,12 @@ retinitis pigmentosa 56 retinitis pigmentosa 56 + + + + RP56 + + @@ -261197,6 +311583,12 @@ retinitis pigmentosa 57 retinitis pigmentosa 57 + + + + RP57 + + @@ -261221,6 +311613,12 @@ WDR62 + + + + WDR62 + + @@ -261244,6 +311642,12 @@ TMEM147 + + + + TMEM147 + + @@ -261255,6 +311659,12 @@ omd occult macular dystrophy + + + + OCMD + + @@ -261277,6 +311687,12 @@ low density lipoprotein cholesterol level quantitative trait locus 6 low density lipoprotein cholesterol level quantitative trait locus 6 + + + + LDLCQ6 + + @@ -261300,6 +311716,12 @@ FAM161A + + + + FAM161A + + @@ -261324,6 +311746,12 @@ HOGA1 + + + + HOGA1 + + @@ -261347,6 +311775,12 @@ ZNF513 + + + + ZNF513 + + @@ -261370,6 +311804,12 @@ ABHD12 + + + + ABHD12 + + @@ -261420,6 +311860,12 @@ wd repeat-containing protein 35 WDR35 + + + + WDR35 + + @@ -261477,6 +311923,12 @@ BBIP1 + + + + BBIP1 + + @@ -261494,6 +311946,12 @@ microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia forsythe-wakeling syndrome + + + + FWS + + @@ -261518,6 +311976,12 @@ epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic, 3 + + + + FAME3 + + @@ -261543,6 +312007,12 @@ HFE + + + + HFE + + @@ -261554,6 +312024,12 @@ cranioectodermal dysplasia 2 cranioectodermal dysplasia 2 + + + + CED2 + + @@ -261576,6 +312052,12 @@ choanal atresia and lymphedema choanal atresia and lymphedema + + + + CATLPH + + @@ -261600,6 +312082,12 @@ congenital disorder of glycosylation, type iii congenital disorder of glycosylation, type iii + + + + CDG2I + + @@ -261611,6 +312099,12 @@ senior-loken syndrome 7 senior-loken syndrome 7 + + + + SLSN7 + + @@ -261634,6 +312128,12 @@ hyperoxaluria, primary, type 3 hyperoxaluria, primary, type 3 + + + + HP3 + + @@ -261657,6 +312157,12 @@ retinitis pigmentosa 58 retinitis pigmentosa 58 + + + + RP58 + + @@ -261697,6 +312203,12 @@ SCARF2 + + + + SCARF2 + + @@ -261721,6 +312233,12 @@ NUBPL + + + + NUBPL + + @@ -261744,6 +312262,12 @@ FOXRED1 + + + + FOXRED1 + + @@ -261775,6 +312299,12 @@ factor 5 and factor viii, combined deficiency of, 2 factor 5 and factor viii, combined deficiency of, 2 + + + + F5F8D2 + + @@ -261844,6 +312374,12 @@ piezo-type mechanosensitive ion channel component 2 PIEZO2 + + + + PIEZO2 + + @@ -261878,6 +312414,12 @@ EIF2AK1 + + + + EIF2AK1 + + @@ -261955,6 +312497,12 @@ neuropathy, hereditary sensory, type 1c neuropathy, hereditary sensory and autonomic, type 1c + + + + HSAN1C + + @@ -261967,6 +312515,12 @@ charcot-marie-tooth neuropathy, recessive intermediate B charcot-marie-tooth disease, recessive intermediate B + + + + CMTRIB + + @@ -261978,6 +312532,12 @@ cardiomyopathy, dilated, 1gg cardiomyopathy, dilated, 1gg + + + + CMD1GG + + @@ -261989,6 +312549,12 @@ parkinson disease 5, autosomal dominant, susceptibility to parkinson disease 5, autosomal dominant, susceptibility to + + + + PARK5 + + @@ -262034,6 +312600,12 @@ spastic paraplegia 48, autosomal recessive spastic paraplegia 48, autosomal recessive + + + + SPG48 + + @@ -262058,6 +312630,12 @@ c1q deficiency 1 c1q deficiency 1 + + + + C1QD1 + + @@ -262083,6 +312661,12 @@ AP5Z1 + + + + AP5Z1 + + @@ -262108,6 +312692,12 @@ KCNK18 + + + + KCNK18 + + @@ -262131,6 +312721,12 @@ migraine with aura, susceptibility to, 13 migraine with aura, susceptibility to, 13 + + + + MGR13 + + @@ -262154,6 +312750,12 @@ d-2-hydroxyglutaric aciduria 2 d-2-hydroxyglutaric aciduria 2 + + + + D2HGA2 + + @@ -262181,6 +312783,12 @@ rajab syndrome rajab interstitial lung disease with brain calcifications 1 + + + + RILDBC1 + + @@ -262219,6 +312827,12 @@ This term has one or more labels that end with ', INCLUDED'. cone-rod dystrophy 15 + + + + CORD15 + + @@ -262242,6 +312856,12 @@ congenital disorder of glycosylation, type ip congenital disorder of glycosylation, type ip + + + + CDG1P + + @@ -262256,6 +312876,12 @@ mngie, polg-related mitochondrial DNA depletion syndrome 4b (mngie type) + + + + MTDPS4B + + @@ -262291,6 +312917,12 @@ shq1, s. cerevisiae, homolog of SHQ1 + + + + SHQ1 + + @@ -262329,6 +312961,12 @@ glycoprotein d ACKR1 + + + + ACKR1 + + @@ -262355,6 +312993,12 @@ ALG11 + + + + ALG11 + + @@ -262380,6 +313024,12 @@ SOBP + + + + SOBP + + @@ -262427,6 +313077,12 @@ MTPAP + + + + MTPAP + + @@ -262450,6 +313106,12 @@ mental retardation with language impairment and with or without autistic features intellectual developmental disorder with language impairment and with or without autistic features + + + + IDDLA + + @@ -262473,6 +313135,12 @@ mental retardation, anterior maxillary protrusion, and strabismus impaired intellectual development, anterior maxillary protrusion, and strabismus + + + + MRAMS + + @@ -262496,6 +313164,12 @@ spastic ataxia 4, autosomal recessive spastic ataxia 4, autosomal recessive + + + + SPAX4 + + @@ -262508,6 +313182,12 @@ cda, type 4 anemia, congenital dyserythropoietic, type 4 + + + + CDAN4 + + @@ -262531,6 +313211,12 @@ vesicoureteral reflux 3 vesicoureteral reflux 3 + + + + VUR3 + + @@ -262560,6 +313246,12 @@ seckel syndrome 4 seckel syndrome 4 + + + + SCKL4 + + @@ -262572,6 +313264,12 @@ hyperaldosteronism, familial, type 3 hyperaldosteronism, familial, type 3 + + + + HALD3 + + @@ -262583,6 +313281,12 @@ brachyolmia, maroteaux type brachyolmia type 2 + + + + BCYM2 + + @@ -262618,6 +313322,12 @@ microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations beaulieu-boycott-innes syndrome + + + + BBIS + + @@ -262645,6 +313355,12 @@ rubinstein-taybi syndrome 2 rubinstein-taybi syndrome 2 + + + + RSTS2 + + @@ -262662,6 +313378,12 @@ deafness, autosomal recessive 83 deafness, autosomal recessive 83 + + + + DFNB83 + + @@ -262685,6 +313407,12 @@ spondylocostal dysostosis 4, autosomal recessive spondylocostal dysostosis 4, autosomal recessive + + + + SCDO4 + + @@ -262713,6 +313441,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 2 + + + + LQT2 + + @@ -262729,6 +313463,12 @@ mammary-digital-nail syndrome mammary-digital-nail syndrome + + + + MDNS + + @@ -262740,6 +313480,12 @@ cardiomyopathy, familial hypertrophic, 7 cardiomyopathy, familial hypertrophic, 7 + + + + CMH7 + + @@ -262754,6 +313500,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 6 + + + + LQT6 + + @@ -262765,6 +313517,12 @@ cardiomyopathy, dilated, 1u cardiomyopathy, dilated, 1u + + + + CMD1U + + @@ -262779,6 +313537,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 5 + + + + LQT5 + + @@ -262790,6 +313554,12 @@ cardiomyopathy, dilated, 1v cardiomyopathy, dilated, 1v + + + + CMD1V + + @@ -262815,6 +313585,12 @@ SLC25A20 + + + + SLC25A20 + + @@ -262831,6 +313607,12 @@ supernumerary der(22)t(8 supernumerary der(22)t(8 + + + + 22) SYNDROME + + @@ -262842,6 +313624,12 @@ klippel-feil syndrome 3, autosomal dominant klippel-feil syndrome 3, autosomal dominant + + + + KFS3 + + @@ -262853,6 +313641,12 @@ microphthalmia/coloboma 6 microphthalmia/coloboma 6 + + + + MCOPCB6 + + @@ -262864,6 +313658,12 @@ microphthalmia, isolated 7 microphthalmia, isolated 7 + + + + MCOP7 + + @@ -262888,6 +313688,12 @@ orofacial cleft 10 orofacial cleft 10 + + + + OFC10 + + @@ -262899,6 +313705,12 @@ noonan syndrome 7 noonan syndrome 7 + + + + NS7 + + @@ -262910,6 +313722,12 @@ leopard syndrome 3 leopard syndrome 3 + + + + LPRD3 + + @@ -262921,6 +313739,12 @@ neuropathy, hereditary sensory, type 1d neuropathy, hereditary sensory, type 1d + + + + HSN1D + + @@ -262935,6 +313759,12 @@ thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) + + + + THMD4 + + @@ -262964,6 +313794,12 @@ hirschsprung disease, susceptibility to, 3 hirschsprung disease, susceptibility to, 3 + + + + HSCR3 + + @@ -262975,6 +313811,12 @@ hirschsprung disease, susceptibility to, 4 hirschsprung disease, susceptibility to, 4 + + + + HSCR4 + + @@ -263000,6 +313842,12 @@ POLR1D + + + + POLR1D + + @@ -263023,6 +313871,12 @@ treacher collins syndrome 2 treacher collins syndrome 2 + + + + TCS2 + + @@ -263046,6 +313900,12 @@ deafness, autosomal recessive 74 deafness, autosomal recessive 74 + + + + DFNB74 + + @@ -263069,6 +313929,12 @@ MSRB3 + + + + MSRB3 + + @@ -263081,6 +313947,12 @@ epileptic encephalopathy, early infantile, 7 developmental and epileptic encephalopathy 7 + + + + DEE7 + + @@ -263093,6 +313965,12 @@ epileptic encephalopathy, early infantile, 11 developmental and epileptic encephalopathy 11 + + + + DEE11 + + @@ -263117,6 +313995,12 @@ epileptic encephalopathy, early infantile, 12 developmental and epileptic encephalopathy 12 + + + + DEE12 + + @@ -263129,6 +314013,12 @@ muscular dystrophy, limb-girdle, type 2q muscular dystrophy, limb-girdle, autosomal recessive 17 + + + + LGMDR17 + + @@ -263152,6 +314042,12 @@ sterol carrier protein 2 deficiency leukoencephalopathy with dystonia and motor neuropathy + + + + LKDMN + + @@ -263176,6 +314072,12 @@ ANO10 + + + + ANO10 + + @@ -263199,6 +314101,12 @@ KBTBD13 + + + + KBTBD13 + + @@ -263222,6 +314130,12 @@ spinocerebellar ataxia, autosomal recessive 10 spinocerebellar ataxia, autosomal recessive 10 + + + + SCAR10 + + @@ -263260,6 +314174,12 @@ hemorrhagic destruction of the brain, subependymal calcification, and cataracts hemorrhagic destruction of the brain, subependymal calcification, and cataracts + + + + HDBSCC + + @@ -263272,6 +314192,12 @@ retinitis pigmentosa, rhodopsin-related retinitis pigmentosa 4 + + + + RP4 + + @@ -263305,6 +314231,12 @@ menin 1 MEN1 + + + + MEN1 + + @@ -263329,6 +314261,12 @@ CCDC115 + + + + CCDC115 + + @@ -263353,6 +314291,12 @@ This term has one or more labels that end with ', INCLUDED'. brain malformations with or without urinary tract defects + + + + BRMUTD + + @@ -263376,6 +314320,12 @@ acne inversa, familial, 2, with or without dowling-degos disease acne inversa, familial, 2, with or without dowling-degos disease + + + + ACNINV2 + + @@ -263387,6 +314337,12 @@ acne inversa, familial, 3 acne inversa, familial, 3 + + + + ACNINV3 + + @@ -263420,6 +314376,12 @@ PYGL + + + + PYGL + + @@ -263445,6 +314407,12 @@ G6PC + + + + G6PC + + @@ -263479,6 +314447,12 @@ spastic paraplegia 51, autosomal recessive spastic paraplegia 51, autosomal recessive + + + + SPG51 + + @@ -263492,6 +314466,12 @@ This term has one or more labels that end with ', INCLUDED'. retinitis pigmentosa 27 + + + + RP27 + + @@ -263515,6 +314495,12 @@ heterotaxy, visceral, 4, autosomal heterotaxy, visceral, 4, autosomal + + + + HTX4 + + @@ -263559,6 +314545,12 @@ retinitis pigmentosa 49 retinitis pigmentosa 49 + + + + RP49 + + @@ -263570,6 +314562,12 @@ macular degeneration, age-related, 6 macular degeneration, age-related, 6 + + + + ARMD6 + + @@ -263581,6 +314579,12 @@ retinitis pigmentosa 47 retinitis pigmentosa 47 + + + + RP47 + + @@ -263606,6 +314610,12 @@ infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction + + + + IMD90 + + @@ -263617,6 +314627,12 @@ macular degeneration, age-related, 5 macular degeneration, age-related, 5 + + + + ARMD5 + + @@ -263642,6 +314658,12 @@ SRXY6 46,xy sex reversal 6 + + + + SRXY6 + + @@ -263655,6 +314677,12 @@ cataract, posterior polar, 2 cataract 16, multiple types + + + + CTRCT16 + + @@ -263666,6 +314694,12 @@ cardiomyopathy, familial hypertrophic, 9 cardiomyopathy, familial hypertrophic, 9 + + + + CMH9 + + @@ -263689,6 +314723,12 @@ retinitis pigmentosa 45 retinitis pigmentosa 45 + + + + RP45 + + @@ -263716,6 +314756,12 @@ RNF213 + + + + RNF213 + + @@ -263739,6 +314785,12 @@ retinitis pigmentosa 44 retinitis pigmentosa 44 + + + + RP44 + + @@ -263762,6 +314814,12 @@ CAMSAP1 + + + + CAMSAP1 + + @@ -263800,6 +314858,12 @@ macular degeneration, age-related, 8 macular degeneration, age-related, 8 + + + + ARMD8 + + @@ -263811,6 +314875,12 @@ complement component 3 deficiency, autosomal recessive complement component 3 deficiency, autosomal recessive + + + + C3D + + @@ -263823,6 +314893,12 @@ aortic dissection, familial, with or without aortic aneurysm aortic aneurysm, familial thoracic 7 + + + + AAT7 + + @@ -263834,6 +314910,12 @@ complement component c1s deficiency complement component c1s deficiency + + + + C1SD + + @@ -263845,6 +314927,12 @@ macular degeneration, age-related, 12 macular degeneration, age-related, 12 + + + + ARMD12 + + @@ -263869,6 +314957,12 @@ C1R + + + + C1R + + @@ -263895,6 +314989,12 @@ complement component 8b deficiency complement component 8 deficiency, type 2 + + + + C8D2 + + @@ -263920,6 +315020,12 @@ complement component 8 deficiency, type 1 complement component 8 deficiency, type 1 + + + + C8D1 + + @@ -263970,6 +315076,12 @@ cromer blood group system blood group, cromer system + + + + CROM + + @@ -263981,6 +315093,12 @@ retinitis pigmentosa 20 retinitis pigmentosa 20 + + + + RP20 + + @@ -264007,6 +315125,12 @@ loeys-dietz syndrome, type 1c, formerly loeys-dietz syndrome 3 + + + + LDS3 + + @@ -264020,6 +315144,12 @@ stat1 deficiency, autosomal recessive immunodeficiency 31b + + + + IMD31B + + @@ -264043,6 +315173,12 @@ CCDC39 + + + + CCDC39 + + @@ -264067,6 +315203,12 @@ CCDC40 + + + + CCDC40 + + @@ -264090,6 +315232,12 @@ meier-gorlin syndrome 2 meier-gorlin syndrome 2 + + + + MGORS2 + + @@ -264101,6 +315249,12 @@ retinitis pigmentosa 40 retinitis pigmentosa 40 + + + + RP40 + + @@ -264124,6 +315278,12 @@ meier-gorlin syndrome 3 meier-gorlin syndrome 3 + + + + MGORS3 + + @@ -264147,6 +315307,12 @@ meier-gorlin syndrome 4 meier-gorlin syndrome 4 + + + + MGORS4 + + @@ -264170,6 +315336,12 @@ meier-gorlin syndrome 5 meier-gorlin syndrome 5 + + + + MGORS5 + + @@ -264186,6 +315358,12 @@ cholangitis, primary sclerosing cholangitis, primary sclerosing + + + + PSC + + @@ -264210,6 +315388,12 @@ ciliary dyskinesia, primary, 14, with or without situs inversus ciliary dyskinesia, primary, 14 + + + + CILD14 + + @@ -264234,6 +315418,12 @@ ciliary dyskinesia, primary, 15, with or without situs inversus ciliary dyskinesia, primary, 15 + + + + CILD15 + + @@ -264245,6 +315435,12 @@ retinitis pigmentosa 39 retinitis pigmentosa 39 + + + + RP39 + + @@ -264268,6 +315464,12 @@ retinitis pigmentosa 43 retinitis pigmentosa 43 + + + + RP43 + + @@ -264292,6 +315494,12 @@ pontocerebellar hypoplasia, type 2d pontocerebellar hypoplasia, type 2d + + + + PCH2D + + @@ -264303,6 +315511,12 @@ bile acid synthesis defect, congenital, 3 bile acid synthesis defect, congenital, 3 + + + + CBAS3 + + @@ -264326,6 +315540,12 @@ TTC19 + + + + TTC19 + + @@ -264356,6 +315576,12 @@ This term has one or more labels that end with ', INCLUDED'. CYP21A2 + + + + CYP21A2 + + @@ -264379,6 +315605,12 @@ UBR7 + + + + UBR7 + + @@ -264394,6 +315626,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9 + + + + MDDGC9 + + @@ -264406,6 +315644,12 @@ short-rib thoracic dysplasia 4 with or without polydactyly short-rib thoracic dysplasia 4 with or without polydactyly + + + + SRTD4 + + @@ -264419,6 +315663,12 @@ This term has one or more labels that end with ', INCLUDED'. nephronophthisis 12 + + + + NPHP12 + + @@ -264430,6 +315680,12 @@ seckel syndrome 5 seckel syndrome 5 + + + + SCKL5 + + @@ -264441,6 +315697,12 @@ nephronophthisis 9 nephronophthisis 9 + + + + NPHP9 + + @@ -264452,6 +315714,12 @@ complement component 9 deficiency complement component 9 deficiency + + + + C9D + + @@ -264463,6 +315731,12 @@ leber congenital amaurosis 6 leber congenital amaurosis 6 + + + + LCA6 + + @@ -264486,6 +315760,12 @@ retinitis pigmentosa 48 retinitis pigmentosa 48 + + + + RP48 + + @@ -264504,6 +315784,12 @@ generalized epilepsy with febrile seizures plus, type 8 generalized epilepsy with febrile seizures plus, type 8 + + + + GEFSP8 + + @@ -264515,6 +315801,12 @@ leber congenital amaurosis 7 leber congenital amaurosis 7 + + + + LCA7 + + @@ -264539,6 +315831,12 @@ night blindness, congenital stationary, type 1d night blindness, congenital stationary, type 1d + + + + CSNB1D + + @@ -264560,6 +315858,12 @@ smooth muscle dysfunction syndrome smooth muscle dysfunction syndrome + + + + SMDYS + + @@ -264571,6 +315875,12 @@ leber congenital amaurosis 8 leber congenital amaurosis 8 + + + + LCA8 + + @@ -264587,6 +315897,12 @@ adiponectin, serum level of, quantitative trait locus 5 adiponectin, serum level of, quantitative trait locus 5 + + + + ADIPQTL5 + + @@ -264598,6 +315914,12 @@ leber congenital amaurosis 11 leber congenital amaurosis 11 + + + + LCA11 + + @@ -264621,6 +315943,12 @@ cardiomyopathy, familial hypertrophic, 16 cardiomyopathy, familial hypertrophic, 16 + + + + CMH16 + + @@ -264667,6 +315995,12 @@ GZF1 + + + + GZF1 + + @@ -264680,6 +316014,12 @@ This term has one or more labels that end with ', INCLUDED'. leber congenital amaurosis 15 + + + + LCA15 + + @@ -264707,6 +316047,12 @@ UQCRH + + + + UQCRH + + @@ -264730,6 +316076,12 @@ hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome + + + + HUPRAS + + @@ -264759,6 +316111,12 @@ tectonic family, member 2 TCTN2 + + + + TCTN2 + + @@ -264789,6 +316147,12 @@ tectonic family, member 3 TCTN3 + + + + TCTN3 + + @@ -264801,6 +316165,12 @@ osteogenesis imperfecta, type 10 osteogenesis imperfecta, type 10 + + + + OI10 + + @@ -264825,6 +316195,12 @@ osteogenesis imperfecta, type 12 osteogenesis imperfecta, type 12 + + + + OI12 + + @@ -264876,6 +316252,12 @@ transposition of the great arteries, dextro-looped 3, formerly congenital heart defects, multiple types, 6 + + + + CHTD6 + + @@ -264887,6 +316269,12 @@ episodic ataxia, type 5 episodic ataxia, type 5 + + + + EA5 + + @@ -264909,6 +316297,12 @@ achromatopsia 4 achromatopsia 4 + + + + ACHM4 + + @@ -264926,6 +316320,12 @@ orofacial cleft 13 orofacial cleft 13 + + + + OFC13 + + @@ -264949,6 +316349,12 @@ PRSS56 + + + + PRSS56 + + @@ -264987,6 +316393,12 @@ This term has one or more labels that end with ', INCLUDED'. retinitis pigmentosa 59 + + + + RP59 + + @@ -265011,6 +316423,12 @@ rod-cone dystrophy, childhood-onset retinitis pigmentosa 38 + + + + RP38 + + @@ -265032,6 +316450,12 @@ This term has one or more labels that end with ', INCLUDED'. generalized epilepsy with febrile seizures plus, type 7 + + + + GEFSP7 + + @@ -265055,6 +316479,12 @@ deafness, autosomal recessive 61 deafness, autosomal recessive 61 + + + + DFNB61 + + @@ -265082,6 +316512,12 @@ PLAAT3 + + + + PLAAT3 + + @@ -265108,6 +316544,12 @@ SLC14A1 + + + + SLC14A1 + + @@ -265129,6 +316571,12 @@ hirschsprung disease, cardiac defects, and autonomic dysfunction hirschsprung disease, cardiac defects, and autonomic dysfunction + + + + HCAD + + @@ -265153,6 +316601,12 @@ FAH + + + + FAH + + @@ -265176,6 +316630,12 @@ F10 + + + + F10 + + @@ -265187,6 +316647,12 @@ cardiomyopathy, familial hypertrophic, 17 cardiomyopathy, familial hypertrophic, 17 + + + + CMH17 + + @@ -265198,6 +316664,12 @@ cardiomyopathy, familial hypertrophic, 18 cardiomyopathy, familial hypertrophic, 18 + + + + CMH18 + + @@ -265218,6 +316690,12 @@ cardiomyopathy, familial hypertrophic, 20 cardiomyopathy, familial hypertrophic, 20 + + + + CMH20 + + @@ -265242,6 +316720,12 @@ lipodystrophy, familial partial, type 4 lipodystrophy, familial partial, type 4 + + + + FPLD4 + + @@ -265271,6 +316755,12 @@ factor 7 F7 + + + + F7 + + @@ -265287,6 +316777,12 @@ thyrotropin-releasing hormone TRH + + + + TRH + + @@ -265298,6 +316794,12 @@ cardiomyopathy, dilated, 1hh cardiomyopathy, dilated, 1hh + + + + CMD1HH + + @@ -265309,6 +316811,12 @@ hypomagnesemia 6, renal hypomagnesemia 6, renal + + + + HOMG6 + + @@ -265334,6 +316842,12 @@ KEL + + + + KEL + + @@ -265361,6 +316875,12 @@ meckel syndrome, type 8 meckel syndrome, type 8 + + + + MKS8 + + @@ -265371,6 +316891,12 @@ obesity, hyperphagia, and developmental delay obesity, hyperphagia, and developmental delay + + + + OBHD + + @@ -265395,6 +316921,12 @@ cataract, autosomal recessive congenital 4 cataract 36 + + + + CTRCT36 + + @@ -265420,6 +316952,12 @@ HSD3B2 + + + + HSD3B2 + + @@ -265445,6 +316983,12 @@ UMPS + + + + UMPS + + @@ -265468,6 +317012,12 @@ DPY19L2 + + + + DPY19L2 + + @@ -265494,6 +317044,12 @@ BPGM + + + + BPGM + + @@ -265517,6 +317073,12 @@ FANCF + + + + FANCF + + @@ -265542,6 +317104,12 @@ HMGCL + + + + HMGCL + + @@ -265566,6 +317134,12 @@ FANCC + + + + FANCC + + @@ -265591,6 +317165,12 @@ TGM6 + + + + TGM6 + + @@ -265614,6 +317194,12 @@ spinocerebellar ataxia 35 spinocerebellar ataxia 35 + + + + SCA35 + + @@ -265631,6 +317217,12 @@ spinocerebellar ataxia 32 spinocerebellar ataxia 32 + + + + SCA32 + + @@ -265654,6 +317246,12 @@ factor d deficiency complement factor d deficiency + + + + CFDD + + @@ -265665,6 +317263,12 @@ lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis + + + + APLDC3 + + @@ -265699,6 +317303,12 @@ deafness, autosomal recessive 89 deafness, autosomal recessive 89 + + + + DFNB89 + + @@ -265724,6 +317334,12 @@ COA5 + + + + COA5 + + @@ -265748,6 +317364,12 @@ LIPN + + + + LIPN + + @@ -265759,6 +317381,12 @@ megalencephalic leukoencephalopathy with subcortical cysts 2a megalencephalic leukoencephalopathy with subcortical cysts 2a + + + + MLC2A + + @@ -265770,6 +317398,12 @@ megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development + + + + MLC2B + + @@ -265798,6 +317432,12 @@ complement component 2 C2 + + + + C2 + + @@ -265816,6 +317456,12 @@ alopecia-mental retardation syndrome 3 alopecia-intellectual disability syndrome 3 + + + + APMR3 + + @@ -265839,6 +317485,12 @@ TOE1 + + + + TOE1 + + @@ -265863,6 +317515,12 @@ TNNI3K + + + + TNNI3K + + @@ -265888,6 +317546,12 @@ acetyl-coa carboxylase-alpha deficiency acetyl-coa carboxylase-alpha deficiency + + + + ACACAD + + @@ -265906,6 +317570,12 @@ This term has one or more labels that end with ', INCLUDED'. parasomnia, sleepwalking type + + + + PSMNSW + + @@ -265930,6 +317600,12 @@ spermatogenesis-associated protein 5 AFG2A + + + + AFG2A + + @@ -265957,6 +317633,12 @@ SUN5 + + + + SUN5 + + @@ -265982,6 +317664,12 @@ lamellar ichthyosis, late-onset ichthyosis, congenital, autosomal recessive 8 + + + + ARCI8 + + @@ -265999,6 +317687,12 @@ iga nephropathy, susceptibility to, 2 iga nephropathy, susceptibility to, 2 + + + + IGAN2 + + @@ -266010,6 +317704,12 @@ t4 epitope deficiency okt4 epitope deficiency + + + + OKT4D + + @@ -266022,6 +317722,12 @@ schizophrenia susceptibility locus, chromosome 22q13-related schizophrenia 15 + + + + SCZD15 + + @@ -266045,6 +317751,12 @@ fanconi anemia, complementation group p fanconi anemia, complementation group p + + + + FANCP + + @@ -266069,6 +317781,12 @@ immunodeficiency 51 immunodeficiency 51 + + + + IMD51 + + @@ -266082,6 +317800,12 @@ frontotemporal dementia and/or amyotrophic lateral sclerosis 6 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 + + + + FTDALS6 + + @@ -266105,6 +317829,12 @@ amyloidosis, primary localized cutaneous, 2 amyloidosis, primary localized cutaneous, 2 + + + + PLCA2 + + @@ -266129,6 +317859,12 @@ candidiasis, familial, 6 candidiasis, familial, 6 + + + + CANDF6 + + @@ -266140,6 +317876,12 @@ spermatogenic failure 8 spermatogenic failure 8 + + + + SPGF8 + + @@ -266165,6 +317907,12 @@ spermatogenic failure 9 spermatogenic failure 9 + + + + SPGF9 + + @@ -266183,6 +317931,12 @@ schizophrenia susceptibility locus, chromosome 7q36.3-related schizophrenia 16 + + + + SCZD16 + + @@ -266209,6 +317963,12 @@ granulomatous disease, chronic, due to ncf4 deficiency granulomatous disease, chronic, autosomal recessive, 3 + + + + CGD3 + + @@ -266226,6 +317986,12 @@ myopia 19, autosomal dominant myopia 19, autosomal dominant + + + + MYP19 + + @@ -266238,6 +318004,12 @@ mental retardation, autosomal dominant 6, with or without seizures intellectual developmental disorder, autosomal dominant 6, with or without seizures + + + + MRD6 + + @@ -266258,6 +318030,12 @@ melanoma, cutaneous malignant, susceptibility to, 6 melanoma, cutaneous malignant, susceptibility to, 6 + + + + CMM6 + + @@ -266281,6 +318059,12 @@ FANCE + + + + FANCE + + @@ -266291,6 +318075,12 @@ cyanosis, transient neonatal cyanosis, transient neonatal + + + + TNCY + + @@ -266305,6 +318095,12 @@ This term has one or more labels that end with ', INCLUDED'. hemoglobin h disease + + + + HBH + + @@ -266333,6 +318129,12 @@ PRPF6 + + + + PRPF6 + + @@ -266344,6 +318146,12 @@ atrial fibrillation, familial, 9 atrial fibrillation, familial, 9 + + + + ATFB9 + + @@ -266356,6 +318164,12 @@ hypotrichosis simplex of the scalp 2 hypotrichosis 3 + + + + HYPT3 + + @@ -266379,6 +318193,12 @@ osteogenesis imperfecta, type 6 osteogenesis imperfecta, type 6 + + + + OI6 + + @@ -266402,6 +318222,12 @@ retinitis pigmentosa 60 retinitis pigmentosa 60 + + + + RP60 + + @@ -266425,6 +318251,12 @@ FANCD2 + + + + FANCD2 + + @@ -266451,6 +318283,12 @@ pituitary hormone deficiency, combined, 6 pituitary hormone deficiency, combined, 6 + + + + CPHD6 + + @@ -266474,6 +318312,12 @@ dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita, autosomal recessive 2 + + + + DKCB2 + + @@ -266497,6 +318341,12 @@ dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita, autosomal recessive 3 + + + + DKCB3 + + @@ -266510,6 +318360,12 @@ This term has one or more labels that end with ', INCLUDED'. dyskeratosis congenita, autosomal dominant 2 + + + + DKCA2 + + @@ -266521,6 +318377,12 @@ dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita, autosomal dominant 3 + + + + DKCA3 + + @@ -266569,6 +318431,12 @@ progeria syndrome, childhood-onset, with osteolysis nestor-guillermo progeria syndrome + + + + NGPS + + @@ -266593,6 +318461,12 @@ bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor bleeding disorder, platelet-type, 13, susceptibility to + + + + BDPLT13 + + @@ -266619,6 +318493,12 @@ IMPAD1 + + + + IMPAD1 + + @@ -266646,6 +318526,12 @@ DAGLA + + + + DAGLA + + @@ -266670,6 +318556,12 @@ ciliary dyskinesia, primary, 16, with or without situs inversus ciliary dyskinesia, primary, 16 + + + + CILD16 + + @@ -266681,6 +318573,12 @@ epilepsy, progressive myoclonic, 6 epilepsy, progressive myoclonic, 6 + + + + EPM6 + + @@ -266692,6 +318590,12 @@ lissencephaly 4 with microcephaly lissencephaly 4 with microcephaly + + + + LIS4 + + @@ -266716,6 +318620,12 @@ mental retardation, autosomal recessive 14 intellectual developmental disorder, autosomal recessive 14 + + + + MRT14 + + @@ -266739,6 +318649,12 @@ ventricular tachycardia, catecholaminergic polymorphic, 3 ventricular tachycardia, catecholaminergic polymorphic, 3 + + + + CPVT3 + + @@ -266750,6 +318666,12 @@ atrial fibrillation, familial, 10 atrial fibrillation, familial, 10 + + + + ATFB10 + + @@ -266772,6 +318694,12 @@ phosphoserine phosphatase deficiency phosphoserine phosphatase deficiency + + + + PSPHD + + @@ -266846,6 +318774,12 @@ heme oxygenase 1 deficiency heme oxygenase 1 deficiency + + + + HMOX1D + + @@ -266869,6 +318803,12 @@ deafness, autosomal recessive 29 deafness, autosomal recessive 29 + + + + DFNB29 + + @@ -266879,6 +318819,12 @@ alpha-2-macroglobulin deficiency alpha-2-macroglobulin deficiency + + + + A2MD + + @@ -266910,6 +318856,12 @@ cortical dysplasia, complex, with other brain malformations 1 cortical dysplasia, complex, with other brain malformations 1 + + + + CDCBM1 + + @@ -266951,6 +318903,12 @@ rb transcriptional corepressor 1 RB1 + + + + RB1 + + @@ -266962,6 +318920,12 @@ moyamoya disease 5 moyamoya disease 5 + + + + MYMY5 + + @@ -266982,6 +318946,12 @@ atrial fibrillation, familial, 11 atrial fibrillation, familial, 11 + + + + ATFB11 + + @@ -266993,6 +318963,12 @@ atrial fibrillation, familial, 12 atrial fibrillation, familial, 12 + + + + ATFB12 + + @@ -267027,6 +319003,12 @@ mitochondrial complex 5 (atp synthase) deficiency, tmem70 type mitochondrial complex 5 (atp synthase) deficiency, nuclear type 2 + + + + MC5DN2 + + @@ -267051,6 +319033,12 @@ mitochondrial complex 5 (atp synthase) deficiency, nuclear type 3 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 3 + + + + MC5DN3 + + @@ -267062,6 +319050,12 @@ acetyl-coa acetyltransferase-2 deficiency acetyl-coa acetyltransferase-2 deficiency + + + + ACAT2D + + @@ -267086,6 +319080,12 @@ KHK + + + + KHK + + @@ -267112,6 +319112,12 @@ CDC42BPB + + + + CDC42BPB + + @@ -267136,6 +319142,12 @@ naa deficiency n-acetylaspartate deficiency + + + + NACED + + @@ -267162,6 +319174,12 @@ ZBTB24 + + + + ZBTB24 + + @@ -267174,6 +319192,12 @@ williams distal myopathy myopathy, distal, 4 + + + + MPD4 + + @@ -267198,6 +319222,12 @@ spastic paraplegia 47, autosomal recessive spastic paraplegia 47, autosomal recessive + + + + SPG47 + + @@ -267222,6 +319252,12 @@ spastic paraplegia 52, autosomal recessive spastic paraplegia 52, autosomal recessive + + + + SPG52 + + @@ -267258,6 +319294,12 @@ intraflagellar transport 43, chlamydomonas, homolog of IFT43 + + + + IFT43 + + @@ -267281,6 +319323,12 @@ immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome 2 + + + + ICF2 + + @@ -267292,6 +319340,12 @@ psoriasis 13, susceptibility to psoriasis 13, susceptibility to + + + + PSORS13 + + @@ -267323,6 +319377,12 @@ MYZAP + + + + MYZAP + + @@ -267346,6 +319406,12 @@ hermansky-pudlak syndrome 3 hermansky-pudlak syndrome 3 + + + + HPS3 + + @@ -267369,6 +319435,12 @@ hermansky-pudlak syndrome 4 hermansky-pudlak syndrome 4 + + + + HPS4 + + @@ -267392,6 +319464,12 @@ hermansky-pudlak syndrome 5 hermansky-pudlak syndrome 5 + + + + HPS5 + + @@ -267415,6 +319493,12 @@ hermansky-pudlak syndrome 6 hermansky-pudlak syndrome 6 + + + + HPS6 + + @@ -267438,6 +319522,12 @@ hermansky-pudlak syndrome 7 hermansky-pudlak syndrome 7 + + + + HPS7 + + @@ -267461,6 +319551,12 @@ hermansky-pudlak syndrome 8 hermansky-pudlak syndrome 8 + + + + HPS8 + + @@ -267528,6 +319624,12 @@ multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome 1 + + + + MCAHS1 + + @@ -267541,6 +319643,12 @@ This term has one or more labels that end with ', INCLUDED'. anhaptoglobinemia + + + + AHP + + @@ -267564,6 +319672,12 @@ fanconi anemia, complementation group g fanconi anemia, complementation group g + + + + FANCG + + @@ -267587,6 +319701,12 @@ fanconi anemia, complementation group 50 fanconi anemia, complementation group 50 + + + + FANCL + + @@ -267612,6 +319732,12 @@ WEE2 + + + + WEE2 + + @@ -267637,6 +319763,12 @@ MCIDAS + + + + MCIDAS + + @@ -267672,6 +319804,12 @@ ICAM4 + + + + ICAM4 + + @@ -267683,6 +319821,12 @@ atrial septal defect 3 atrial septal defect 3 + + + + ASD3 + + @@ -267694,6 +319838,12 @@ sick sinus syndrome 3, susceptibility to sick sinus syndrome 3, susceptibility to + + + + SSS3 + + @@ -267708,6 +319858,12 @@ This term has one or more labels that end with ', INCLUDED'. short-rib thoracic dysplasia 7 with or without polydactyly + + + + SRTD7 + + @@ -267733,6 +319889,12 @@ RILPL1 + + + + RILPL1 + + @@ -267750,6 +319912,12 @@ phosphoenolpyruvate carboxykinase 2, mitochondrial PCK2 + + + + PCK2 + + @@ -267762,6 +319930,12 @@ combined oxidative phosphorylation deficiency 8 combined oxidative phosphorylation deficiency 8 + + + + COXPD8 + + @@ -267807,6 +319981,12 @@ keppen-lubinsky syndrome keppen-lubinsky syndrome + + + + KPLBS + + @@ -267818,6 +319998,12 @@ cranioectodermal dysplasia 3 cranioectodermal dysplasia 3 + + + + CED3 + + @@ -267860,6 +320046,12 @@ kappa chain deficiency immunoglobulin kappa light chain deficiency + + + + IGKCD + + @@ -267893,6 +320085,12 @@ mental retardation, autosomal dominant 7 intellectual developmental disorder, autosomal dominant 7 + + + + MRD7 + + @@ -267916,6 +320114,12 @@ mmsdh deficiency methylmalonate semialdehyde dehydrogenase deficiency + + + + MMSDHD + + @@ -267941,6 +320145,12 @@ MLIP + + + + MLIP + + @@ -267965,6 +320175,12 @@ KPNA7 + + + + KPNA7 + + @@ -267988,6 +320204,12 @@ pyruvate dehydrogenase e1-beta deficiency pyruvate dehydrogenase e1-beta deficiency + + + + PDHBD + + @@ -268006,6 +320228,12 @@ mental retardation, autosomal dominant 2 intellectual developmental disorder, autosomal dominant 2 + + + + MRD2 + + @@ -268029,6 +320257,12 @@ mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome 2 + + + + MVA2 + + @@ -268051,6 +320285,12 @@ cortical malformations, occipital cortical malformations, occipital + + + + OCCM + + @@ -268064,6 +320304,12 @@ neuropathy, hereditary sensory, with hearing loss and dementia neuropathy, hereditary sensory, type 1e + + + + HSN1E + + @@ -268075,6 +320321,12 @@ hydrolethalus syndrome 2 hydrolethalus syndrome 2 + + + + HLS2 + + @@ -268097,6 +320349,12 @@ chitotriosidase deficiency chitotriosidase deficiency + + + + CHITD + + @@ -268120,6 +320378,12 @@ TMCO1 + + + + TMCO1 + + @@ -268142,6 +320406,12 @@ lactate dehydrogenase B deficiency lactate dehydrogenase B deficiency + + + + LDHBD + + @@ -268166,6 +320436,12 @@ perrault syndrome 3 perrault syndrome 3 + + + + PRLTS3 + + @@ -268190,6 +320466,12 @@ glomerulosclerosis, focal segmental, 6 focal segmental glomerulosclerosis 6 + + + + FSGS6 + + @@ -268210,6 +320492,12 @@ stickler syndrome, type 4 stickler syndrome, type 4 + + + + STL4 + + @@ -268221,6 +320509,12 @@ epiphyseal dysplasia, multiple, 6 epiphyseal dysplasia, multiple, 6 + + + + EDM6 + + @@ -268245,6 +320539,12 @@ TRAPPC11 + + + + TRAPPC11 + + @@ -268269,6 +320569,12 @@ TRAPPC12 + + + + TRAPPC12 + + @@ -268300,6 +320606,12 @@ sperm antigen with calponin homology and coiled-coil domains 1-like SPECC1L + + + + SPECC1L + + @@ -268324,6 +320636,12 @@ TRIM2 + + + + TRIM2 + + @@ -268353,6 +320671,12 @@ mks1-related protein 1 B9D1 + + + + B9D1 + + @@ -268376,6 +320700,12 @@ CCDC8 + + + + CCDC8 + + @@ -268396,6 +320726,12 @@ onychodystrophy nail disorder, nonsyndromic congenital, 9 + + + + NDNC9 + + @@ -268422,6 +320758,12 @@ PKDCC + + + + PKDCC + + @@ -268445,6 +320787,12 @@ RFWD3 + + + + RFWD3 + + @@ -268468,6 +320816,12 @@ deafness, autosomal dominant 64 deafness, autosomal dominant 64 + + + + DFNA64 + + @@ -268491,6 +320845,12 @@ spinocerebellar ataxia 36 spinocerebellar ataxia 36 + + + + SCA36 + + @@ -268515,6 +320875,12 @@ NOP56 + + + + NOP56 + + @@ -268538,6 +320904,12 @@ hyperbiliverdinemia hyperbiliverdinemia + + + + HBLVD + + @@ -268565,6 +320937,12 @@ thromboxane synthetase deficiency bleeding disorder, platelet-type, 14 + + + + BDPLT14 + + @@ -268588,6 +320966,12 @@ ZNF644 + + + + ZNF644 + + @@ -268610,6 +320994,12 @@ muscle hypertrophy muscle hypertrophy + + + + MSLHP + + @@ -268634,6 +321024,12 @@ PRDM5 + + + + PRDM5 + + @@ -268648,6 +321044,12 @@ immunodeficiency 31c immunodeficiency 31c + + + + IMD31C + + @@ -268670,6 +321072,12 @@ delayed sleep phase disorder, susceptibility to delayed sleep phase disorder, susceptibility to + + + + DSPD + + @@ -268680,6 +321088,12 @@ glutathione peroxidase deficiency glutathione peroxidase deficiency + + + + GPXD + + @@ -268692,6 +321106,12 @@ pheochromocytoma/paraganglioma syndrome 5 pheochromocytoma/paraganglioma syndrome 5 + + + + PPGL5 + + @@ -268709,6 +321129,12 @@ myopia 20, autosomal dominant myopia 20, autosomal dominant + + + + MYP20 + + @@ -268732,6 +321158,12 @@ myopia 21, autosomal dominant myopia 21, autosomal dominant + + + + MYP21 + + @@ -268757,6 +321189,12 @@ PCK1 + + + + PCK1 + + @@ -268781,6 +321219,12 @@ NBEAL2 + + + + NBEAL2 + + @@ -268805,6 +321249,12 @@ brittle cornea syndrome 2 brittle cornea syndrome 2 + + + + BCS2 + + @@ -268828,6 +321278,12 @@ hermansky-pudlak syndrome 9 hermansky-pudlak syndrome 9 + + + + HPS9 + + @@ -268844,6 +321300,12 @@ monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia immunodeficiency 21 + + + + IMD21 + + @@ -268867,6 +321329,12 @@ joubert syndrome 13 joubert syndrome 13 + + + + JBTS13 + + @@ -268881,6 +321349,12 @@ This term has one or more labels that end with ', INCLUDED'. meckel syndrome, type 10 + + + + MKS10 + + @@ -268892,6 +321366,12 @@ retinitis pigmentosa 61 retinitis pigmentosa 61 + + + + RP61 + + @@ -268915,6 +321395,12 @@ retinitis pigmentosa 62 retinitis pigmentosa 62 + + + + RP62 + + @@ -268939,6 +321425,12 @@ DIS3L2 + + + + DIS3L2 + + @@ -268950,6 +321442,12 @@ geleophysic dysplasia 2 geleophysic dysplasia 2 + + + + GPHYSD2 + + @@ -268961,6 +321459,12 @@ leber congenital amaurosis 16 leber congenital amaurosis 16 + + + + LCA16 + + @@ -268977,6 +321481,12 @@ hypertelorism, preauricular sinus, punctal pits, and deafness hypertelorism, preauricular sinus, punctal pits, and deafness + + + + HPPD + + @@ -269000,6 +321510,12 @@ kreiborg-pakistani syndrome craniosynostosis and dental anomalies + + + + CRSDA + + @@ -269012,6 +321528,12 @@ pigmented nodular adrenocortical disease, primary, 3 pigmented nodular adrenocortical disease, primary, 3 + + + + PPNAD3 + + @@ -269041,6 +321563,12 @@ kiaa0645 DEPDC5 + + + + DEPDC5 + + @@ -269066,6 +321594,12 @@ transferrin serum level quantitative trait locus 2 transferrin serum level quantitative trait locus 2 + + + + TFQTL2 + + @@ -269090,6 +321624,12 @@ DOCK6 + + + + DOCK6 + + @@ -269100,6 +321640,12 @@ craniofacial anomalies and anterior segment dysgenesis syndrome craniofacial anomalies and anterior segment dysgenesis syndrome + + + + CAASDS + + @@ -269123,6 +321669,12 @@ nephrotic syndrome, type 6 nephrotic syndrome, type 6 + + + + NPHS6 + + @@ -269135,6 +321687,12 @@ myasthenic syndrome, congenital, acetazolamide-responsive myasthenic syndrome, congenital, 16 + + + + CMS16 + + @@ -269147,6 +321705,12 @@ nephrotic syndrome, type 5, with or without ocular abnormalities nephrotic syndrome, type 5, with or without ocular abnormalities + + + + NPHS5 + + @@ -269167,6 +321731,12 @@ gp ia deficiency bleeding disorder, platelet-type, 9 + + + + BDPLT9 + + @@ -269192,6 +321762,12 @@ gp 6 deficiency bleeding disorder, platelet-type, 11 + + + + BDPLT11 + + @@ -269217,6 +321793,12 @@ rafiq syndrome rafiq syndrome + + + + RAFQS + + @@ -269240,6 +321822,12 @@ parkinson disease 17 parkinson disease 17 + + + + PARK17 + + @@ -269268,6 +321856,12 @@ psorp psoriasis 14, pustular + + + + PSORS14 + + @@ -269292,6 +321886,12 @@ three m syndrome 3 three m syndrome 3 + + + + 3M3 + + @@ -269318,6 +321918,12 @@ mental retardation, autosomal recessive 21 hyperphosphatasia with impaired intellectual development syndrome 3 + + + + HPMRS3 + + @@ -269336,6 +321942,12 @@ mental retardation, autosomal recessive 16 intellectual developmental disorder, autosomal recessive 16 + + + + MRT16 + + @@ -269347,6 +321959,12 @@ meckel syndrome, type 9 meckel syndrome, type 9 + + + + MKS9 + + @@ -269363,6 +321981,12 @@ lung cancer susceptibility 5 lung cancer susceptibility 5 + + + + LNCR5 + + @@ -269374,6 +321998,12 @@ deafness, autosomal dominant 33 deafness, autosomal dominant 33 + + + + DFNA33 + + @@ -269385,6 +322015,12 @@ encephalopathy, acute, infection-induced, susceptibility to, 4 encephalopathy, acute, infection-induced, susceptibility to, 4 + + + + IIAE4 + + @@ -269396,6 +322032,12 @@ neuropathy, hereditary sensory, type 2c neuropathy, hereditary sensory, type 2c + + + + HSN2C + + @@ -269426,6 +322068,12 @@ p50 ASCC1 + + + + ASCC1 + + @@ -269451,6 +322099,12 @@ ASCC3 + + + + ASCC3 + + @@ -269480,6 +322134,12 @@ wd repeat-containing protein 81 WDR81 + + + + WDR81 + + @@ -269503,6 +322163,12 @@ adams-oliver syndrome 2 adams-oliver syndrome 2 + + + + AOS2 + + @@ -269520,6 +322186,12 @@ biliary cirrhosis, primary, 4 biliary cirrhosis, primary, 4 + + + + PBC4 + + @@ -269537,6 +322209,12 @@ biliary cirrhosis, primary, 5 biliary cirrhosis, primary, 5 + + + + PBC5 + + @@ -269561,6 +322239,12 @@ warburg micro syndrome 3 warburg micro syndrome 3 + + + + WARBM3 + + @@ -269578,6 +322262,12 @@ narcolepsy 6, susceptibility to narcolepsy 6, susceptibility to + + + + NRCLP6 + + @@ -269600,6 +322290,12 @@ retinal arterial macroaneurysm with supravalvular pulmonic stenosis retinal arterial macroaneurysm with supravalvular pulmonic stenosis + + + + RAMSVPS + + @@ -269612,6 +322308,12 @@ warburg micro syndrome 2 warburg micro syndrome 2 + + + + WARBM2 + + @@ -269635,6 +322337,12 @@ holoprosencephaly 11 holoprosencephaly 11 + + + + HPE11 + + @@ -269651,6 +322359,12 @@ hyperuricemic nephropathy, familial juvenile, 3 hyperuricemic nephropathy, familial juvenile, 3 + + + + HNFJ3 + + @@ -269664,6 +322378,12 @@ charcot-marie-tooth neuropathy, axonal, type 2o charcot-marie-tooth disease, axonal, type 2o + + + + CMT2O + + @@ -269687,6 +322407,12 @@ spinocerebellar ataxia, autosomal recessive 11 spinocerebellar ataxia, autosomal recessive 11 + + + + SCAR11 + + @@ -269726,6 +322452,12 @@ microcephaly, epilepsy, and diabetes syndrome 1 microcephaly, epilepsy, and diabetes syndrome 1 + + + + MEDS1 + + @@ -269752,6 +322484,12 @@ HSD11B2 + + + + HSD11B2 + + @@ -269769,6 +322507,12 @@ hyperpigmentation, familial progressive, 1 hyperpigmentation, familial progressive, 1 + + + + FPH1 + + @@ -269792,6 +322536,12 @@ PDZD8 + + + + PDZD8 + + @@ -269809,6 +322559,12 @@ hypotrichosis 9 hypotrichosis 9 + + + + HYPT9 + + @@ -269826,6 +322582,12 @@ hypotrichosis 10 hypotrichosis 10 + + + + HYPT10 + + @@ -269857,6 +322619,12 @@ 5-oxoprolinase + + + + OPLAH + + @@ -269880,6 +322648,12 @@ ACSF3 + + + + ACSF3 + + @@ -269904,6 +322678,12 @@ NAA60 + + + + NAA60 + + @@ -269929,6 +322709,12 @@ mental retardation, autosomal recessive 18 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy + + + + MRT18 + + @@ -269952,6 +322738,12 @@ narcolepsy 7 narcolepsy 7 + + + + NRCLP7 + + @@ -269975,6 +322767,12 @@ parkinson disease 18, autosomal dominant, susceptibility to parkinson disease 18, autosomal dominant, susceptibility to + + + + PARK18 + + @@ -269992,6 +322790,12 @@ aneurysm, intracranial berry, 11 aneurysm, intracranial berry, 11 + + + + ANIB11 + + @@ -270012,6 +322816,12 @@ neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant + + + + NDHMSD + + @@ -270024,6 +322834,12 @@ neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment nescav syndrome + + + + NESCAVS + + @@ -270048,6 +322864,12 @@ mental retardation, autosomal dominant 10 intellectual developmental disorder, autosomal dominant 10 + + + + MRD10 + + @@ -270067,9 +322889,9 @@ + intellectual developmental disorder, autosomal dominant 11 + mental retardation, autosomal dominant 11 chromosome 20q11-q12 deletion syndrome - intellectual developmental disorder, autosomal dominant 11 - mental retardation, autosomal dominant 11 This term has one or more labels that end with ', INCLUDED'. chromosome 20q11-q12 deletion syndrome @@ -270104,6 +322926,12 @@ rpc155 POLR3A + + + + POLR3A + + @@ -270128,6 +322956,12 @@ CFAP57 + + + + CFAP57 + + @@ -270151,6 +322985,12 @@ C9ORF72 + + + + C9ORF72 + + @@ -270173,6 +323013,12 @@ microcephaly-capillary malformation syndrome microcephaly-capillary malformation syndrome + + + + MICCAP + + @@ -270183,6 +323029,12 @@ arthrogryposis, perthes disease, and upward gaze palsy arthrogryposis, perthes disease, and upward gaze palsy + + + + APUG + + @@ -270205,6 +323057,12 @@ combined malonic and methylmalonic aciduria combined malonic and methylmalonic aciduria + + + + CMAMMA + + @@ -270265,6 +323123,12 @@ CFAP65 + + + + CFAP65 + + @@ -270287,6 +323151,12 @@ platelet-activating factor acetylhydrolase deficiency platelet-activating factor acetylhydrolase deficiency + + + + PAFAD + + @@ -270323,6 +323193,12 @@ male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase 46,xy sex reversal 8 + + + + SRXY8 + + @@ -270340,6 +323216,12 @@ epilepsy, juvenile myoclonic, susceptibility to, 9 epilepsy, juvenile myoclonic, susceptibility to, 9 + + + + EJM9 + + @@ -270364,6 +323246,12 @@ ESAM + + + + ESAM + + @@ -270388,6 +323276,12 @@ GLCCI1 + + + + GLCCI1 + + @@ -270399,6 +323293,12 @@ stickler syndrome, type 5 stickler syndrome, type 5 + + + + STL5 + + @@ -270417,12 +323317,18 @@ + myelodysplastic syndrome, susceptibility to MDS myelodysplastic syndrome - myelodysplastic syndrome, susceptibility to This term has one or more labels that end with ', INCLUDED'. myelodysplastic syndrome + + + + MDS + + @@ -270462,6 +323368,12 @@ breast-ovarian cancer, familial, susceptibility to, 4 breast-ovarian cancer, familial, susceptibility to, 4 + + + + BROVCA4 + + @@ -270484,6 +323396,12 @@ myopia, high, with cataract and vitreoretinal degeneration myopia, high, with cataract and vitreoretinal degeneration + + + + MCVD + + @@ -270508,6 +323426,12 @@ hydatidiform mole, recurrent, 2 hydatidiform mole, recurrent, 2 + + + + HYDM2 + + @@ -270548,6 +323472,12 @@ BICC1 + + + + BICC1 + + @@ -270559,6 +323489,12 @@ wolfram-like syndrome, autosomal dominant wolfram-like syndrome, autosomal dominant + + + + WFSL + + @@ -270587,6 +323523,12 @@ chromosome 19 open reading frame 12 C19ORF12 + + + + C19ORF12 + + @@ -270599,6 +323541,12 @@ neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 + + + + NBIA4 + + @@ -270622,6 +323570,12 @@ multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia + + + + MMDS2 + + @@ -270655,6 +323609,12 @@ emery-dreifuss muscular dystrophy 7, autosomal dominant emery-dreifuss muscular dystrophy 7, autosomal dominant + + + + EDMD7 + + @@ -270680,6 +323640,12 @@ keratoconus, familial, with early-onset anterior polar cataract edict syndrome + + + + EDICT + + @@ -270691,6 +323657,12 @@ sclerosteosis 2 sclerosteosis 2 + + + + SOST2 + + @@ -270701,6 +323673,12 @@ cognitive impairment with or without cerebellar ataxia cognitive impairment with or without cerebellar ataxia + + + + CIAT + + @@ -270712,6 +323690,12 @@ amacr deficiency alpha-methylacyl-coa racemase deficiency + + + + AMACRD + + @@ -270735,6 +323719,12 @@ ZMYND15 + + + + ZMYND15 + + @@ -270752,6 +323742,12 @@ vesicoureteral reflux 4 vesicoureteral reflux 4 + + + + VUR4 + + @@ -270769,6 +323765,12 @@ vesicoureteral reflux 5 vesicoureteral reflux 5 + + + + VUR5 + + @@ -270786,6 +323788,12 @@ vesicoureteral reflux 6 vesicoureteral reflux 6 + + + + VUR6 + + @@ -270796,6 +323804,12 @@ pancreatic cancer, susceptibility to, 4 pancreatic cancer, susceptibility to, 4 + + + + PNCA4 + + @@ -270807,6 +323821,12 @@ myopathy, distal, tateyama type myopathy, distal, tateyama type + + + + MPDT + + @@ -270819,6 +323839,12 @@ spinocerebellar ataxia, autosomal recessive 12 spinocerebellar ataxia, autosomal recessive 12 + + + + SCAR12 + + @@ -270831,6 +323857,12 @@ This term has one or more labels that end with ', INCLUDED'. nevoid hypermelanosis, linear and whorled + + + + LWNH + + @@ -270854,6 +323886,12 @@ ovarian dysgenesis 3 ovarian dysgenesis 3 + + + + ODG3 + + @@ -270864,6 +323902,12 @@ pitt-hopkins-like syndrome 2 pitt-hopkins-like syndrome 2 + + + + PTHSL2 + + @@ -270882,6 +323926,12 @@ feingold syndrome 2 feingold syndrome 2 + + + + FGLDS2 + + @@ -270892,6 +323942,12 @@ tumor predisposition syndrome 1 tumor predisposition syndrome 1 + + + + TPDS1 + + @@ -270914,6 +323970,12 @@ inflammatory skin and bowel disease, neonatal, 1 inflammatory skin and bowel disease, neonatal, 1 + + + + NISBD1 + + @@ -270932,6 +323994,12 @@ mental retardation, autosomal recessive 31 intellectual developmental disorder, autosomal recessive 31 + + + + MRT31 + + @@ -270944,6 +324012,12 @@ colorectal cancer, hereditary nonpolyposis, type 6 colorectal cancer, hereditary nonpolyposis, type 6 + + + + HNPCC6 + + @@ -270973,6 +324047,12 @@ mental retardation, autosomal recessive 29 intellectual developmental disorder, autosomal recessive 29 + + + + MRT29 + + @@ -270984,6 +324064,12 @@ arthrogryposis, distal, type 1b arthrogryposis, distal, type 1b + + + + DA1B + + @@ -271009,6 +324095,12 @@ PAM16 + + + + PAM16 + + @@ -271021,6 +324113,12 @@ lynch syndrome 4 lynch syndrome 4 + + + + LYNCH4 + + @@ -271050,6 +324148,12 @@ This term has one or more labels that end with ', INCLUDED'. pancreatic lipase deficiency + + + + PNLIPD + + @@ -271083,6 +324187,12 @@ mental retardation, autosomal recessive 27 intellectual developmental disorder, autosomal recessive 27 + + + + MRT27 + + @@ -271101,6 +324211,12 @@ mental retardation, autosomal recessive 33 intellectual developmental disorder, autosomal recessive 33 + + + + MRT33 + + @@ -271119,6 +324235,12 @@ mental retardation, autosomal recessive 30 intellectual developmental disorder, autosomal recessive 30 + + + + MRT30 + + @@ -271136,6 +324258,12 @@ mental retardation, autosomal recessive 19 intellectual developmental disorder, autosomal recessive 19 + + + + MRT19 + + @@ -271154,6 +324282,12 @@ mental retardation, autosomal recessive 23 intellectual developmental disorder, autosomal recessive 23 + + + + MRT23 + + @@ -271172,6 +324306,12 @@ mental retardation, autosomal recessive 24 intellectual developmental disorder, autosomal recessive 24 + + + + MRT24 + + @@ -271190,6 +324330,12 @@ mental retardation, autosomal recessive 25 intellectual developmental disorder, autosomal recessive 25 + + + + MRT25 + + @@ -271208,6 +324354,12 @@ mental retardation, autosomal recessive 28 intellectual developmental disorder, autosomal recessive 28 + + + + MRT28 + + @@ -271220,6 +324372,12 @@ lynch syndrome 5 lynch syndrome 5 + + + + LYNCH5 + + @@ -271245,6 +324403,12 @@ NUP93 + + + + NUP93 + + @@ -271270,6 +324434,12 @@ NUP205 + + + + NUP205 + + @@ -271300,6 +324470,12 @@ rpc2 POLR3B + + + + POLR3B + + @@ -271310,6 +324486,12 @@ peripheral neuropathy, myopathy, hoarseness, and hearing loss peripheral neuropathy, myopathy, hoarseness, and hearing loss + + + + PNMHH + + @@ -271336,6 +324518,12 @@ surfactant metabolism dysfunction, pulmonary, 5 surfactant metabolism dysfunction, pulmonary, 5 + + + + SMDP5 + + @@ -271378,6 +324566,12 @@ mbp deficiency mannose-binding lectin deficiency + + + + MBLD + + @@ -271389,6 +324583,12 @@ amyotrophic lateral sclerosis 16, juvenile amyotrophic lateral sclerosis 16, juvenile + + + + ALS16 + + @@ -271416,6 +324616,12 @@ aortic aneurysm, familial abdominal, 4 aortic aneurysm, familial abdominal, 4 + + + + AAA4 + + @@ -271428,6 +324634,12 @@ short-rib thoracic dysplasia 5 with or without polydactyly short-rib thoracic dysplasia 5 with or without polydactyly + + + + SRTD5 + + @@ -271439,6 +324651,12 @@ nephronophthisis 13 nephronophthisis 13 + + + + NPHP13 + + @@ -271450,6 +324668,12 @@ cranioectodermal dysplasia 4 cranioectodermal dysplasia 4 + + + + CED4 + + @@ -271473,6 +324697,12 @@ complement component 4b deficiency complement component 4b deficiency + + + + C4BD + + @@ -271484,6 +324714,12 @@ complement component 4a deficiency complement component 4a deficiency + + + + C4AD + + @@ -271497,6 +324733,12 @@ leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism + + + + HLD8 + + @@ -271509,6 +324751,12 @@ This term has one or more labels that end with ', INCLUDED'. bacteremia, susceptibility to, 1 + + + + BACTS1 + + @@ -271519,6 +324767,12 @@ bacteremia, susceptibility to, 2 bacteremia, susceptibility to, 2 + + + + BACTS2 + + @@ -271530,6 +324784,12 @@ colorectal cancer, hereditary nonpolyposis, type 7 colorectal cancer, hereditary nonpolyposis, type 7 + + + + HNPCC7 + + @@ -271564,6 +324824,12 @@ proline-rich transmembrane protein 2 PRRT2 + + + + PRRT2 + + @@ -271588,6 +324854,12 @@ ZNF526 + + + + ZNF526 + + @@ -271600,6 +324872,12 @@ encephalopathy due to defective mitochondrial and peroxisomal fission 1 encephalopathy due to defective mitochondrial and peroxisomal fission 1 + + + + EMPF1 + + @@ -271617,6 +324895,12 @@ stillbirth, recurrent pregnancy loss, recurrent, susceptibility to, 1 + + + + RPRGL1 + + @@ -271627,6 +324911,12 @@ pregnancy loss, recurrent, susceptibility to, 2 pregnancy loss, recurrent, susceptibility to, 2 + + + + RPRGL2 + + @@ -271649,6 +324939,12 @@ pregnancy loss, recurrent, susceptibility to, 3 pregnancy loss, recurrent, susceptibility to, 3 + + + + RPRGL3 + + @@ -271661,6 +324957,12 @@ This term has one or more labels that end with ', INCLUDED'. graft-versus-host disease, susceptibility to + + + + GVHDS + + @@ -271684,6 +324986,12 @@ MFSD2A + + + + MFSD2A + + @@ -271696,6 +325004,12 @@ myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10a, severe variant + + + + CMYO10A + + @@ -271718,6 +325032,12 @@ glucocorticoid therapy, response to glucocorticoid therapy, response to + + + + GCTR + + @@ -271728,6 +325048,12 @@ accelerated tumor formation, susceptibility to accelerated tumor formation, susceptibility to + + + + ACTFS + + @@ -271751,6 +325077,12 @@ microphthalmia, syndromic 11 microphthalmia, syndromic 11 + + + + MCOPS11 + + @@ -271776,6 +325108,12 @@ RHBDF2 + + + + RHBDF2 + + @@ -271787,6 +325125,12 @@ zaki-gleeson syndrome microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome + + + + MCHCCD + + @@ -271819,6 +325163,12 @@ spastic paraplegia 46, autosomal recessive spastic paraplegia 46, autosomal recessive + + + + SPG46 + + @@ -271844,6 +325194,12 @@ This term has one or more labels that end with ', INCLUDED'. glycerol quantitative trait locus + + + + GLYCQTL + + @@ -271861,6 +325217,12 @@ deafness, autosomal recessive 96 deafness, autosomal recessive 96 + + + + DFNB96 + + @@ -271872,6 +325234,12 @@ chilblain lupus 2 chilblain lupus 2 + + + + CHBL2 + + @@ -271894,6 +325262,12 @@ radiohumeral fusions with other skeletal and craniofacial anomalies radiohumeral fusions with other skeletal and craniofacial anomalies + + + + RHFCA + + @@ -271905,6 +325279,12 @@ epilepsy, familial temporal lobe, 5 epilepsy, familial temporal lobe, 5 + + + + ETL5 + + @@ -271917,6 +325297,12 @@ febrile seizures, familial, 11 febrile seizures, familial, 11 + + + + FEB11 + + @@ -271961,6 +325347,12 @@ systemic lupus erythematosus 16 systemic lupus erythematosus 16 + + + + SLEB16 + + @@ -271988,6 +325380,12 @@ cataract, congenital, cerulean type, 5 cataract 37 + + + + CTRCT37 + + @@ -272012,6 +325410,12 @@ TMEM237 + + + + TMEM237 + + @@ -272035,6 +325439,12 @@ joubert syndrome 14 joubert syndrome 14 + + + + JBTS14 + + @@ -272059,6 +325469,12 @@ TTI1 + + + + TTI1 + + @@ -272083,6 +325499,12 @@ TTI2 + + + + TTI2 + + @@ -272108,6 +325530,12 @@ TSHZ1 + + + + TSHZ1 + + @@ -272119,6 +325547,12 @@ ventricular septal defect 1 ventricular septal defect 1 + + + + VSD1 + + @@ -272130,6 +325564,12 @@ atrioventricular septal defect 4 atrioventricular septal defect 4 + + + + AVSD4 + + @@ -272141,6 +325581,12 @@ ventricular septal defect 2 ventricular septal defect 2 + + + + VSD2 + + @@ -272152,6 +325598,12 @@ ventricular septal defect 3 ventricular septal defect 3 + + + + VSD3 + + @@ -272163,6 +325615,12 @@ atrial septal defect 8 atrial septal defect 8 + + + + ASD8 + + @@ -272174,6 +325632,12 @@ cutis laxa, autosomal dominant 2 cutis laxa, autosomal dominant 2 + + + + ADCL2 + + @@ -272185,6 +325649,12 @@ hypoplastic left heart syndrome 2 hypoplastic left heart syndrome 2 + + + + HLHS2 + + @@ -272210,6 +325680,12 @@ charcot-marie-tooth neuropathy, type 2p charcot-marie-tooth disease, axonal, type 2p + + + + CMT2P + + @@ -272233,6 +325709,12 @@ cutis laxa, autosomal recessive, type 1b cutis laxa, autosomal recessive, type 1b + + + + ARCL1B + + @@ -272245,6 +325727,12 @@ lange barsy syndrome B cutis laxa, autosomal recessive, type 3b + + + + ARCL3B + + @@ -272260,6 +325748,12 @@ phoar2-enteropathy syndrome phoar2-enteropathy syndrome + + + + PHOAR2E + + @@ -272283,6 +325777,12 @@ hypothyroidism, congenital, nongoitrous, 6 hypothyroidism, congenital, nongoitrous, 6 + + + + CHNG6 + + @@ -272307,6 +325807,12 @@ ATAD1 + + + + ATAD1 + + @@ -272333,6 +325839,12 @@ UBE3C + + + + UBE3C + + @@ -272345,6 +325857,12 @@ charcot-marie-tooth neuropathy with focal segmental glomerulonephritis charcot-marie-tooth disease, dominant intermediate e + + + + CMTDIE + + @@ -272357,6 +325875,12 @@ melanoma, cutaneous malignant, susceptibility to, 8 melanoma, cutaneous malignant, susceptibility to, 8 + + + + CMM8 + + @@ -272368,6 +325892,12 @@ ichthyosis, spastic quadriplegia, and mental retardation ichthyosis, spastic quadriplegia, and impaired intellectual development + + + + ISQMR + + @@ -272393,6 +325923,12 @@ thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) + + + + THMD5 + + @@ -272422,6 +325958,12 @@ TMEM138 + + + + TMEM138 + + @@ -272447,6 +325989,12 @@ UQCC2 + + + + UQCC2 + + @@ -272471,6 +326019,12 @@ pyruvate dehydrogenase lipoic acid synthetase deficiency hyperglycinemia, lactic acidosis, and seizures + + + + HGCLAS + + @@ -272497,6 +326051,12 @@ This term has one or more labels that end with ', INCLUDED'. joubert syndrome 15 + + + + JBTS15 + + @@ -272520,6 +326080,12 @@ joubert syndrome 16 joubert syndrome 16 + + + + JBTS16 + + @@ -272542,6 +326108,12 @@ coronary heart disease, susceptibility to, 6 coronary heart disease, susceptibility to, 6 + + + + CHDS6 + + @@ -272564,6 +326136,12 @@ familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome 3 + + + + FCAS3 + + @@ -272575,6 +326153,12 @@ ras-associated autoimmune leukoproliferative disorder ras-associated autoimmune leukoproliferative disorder + + + + RALD + + @@ -272586,6 +326170,12 @@ arterial calcification, generalized, of infancy, 2 arterial calcification, generalized, of infancy, 2 + + + + GACI2 + + @@ -272597,6 +326187,12 @@ atrioventricular septal defect 5 atrioventricular septal defect 5 + + + + AVSD5 + + @@ -272608,6 +326204,12 @@ atrial septal defect 9 atrial septal defect 9 + + + + ASD9 + + @@ -272632,6 +326234,12 @@ THSD4 + + + + THSD4 + + @@ -272661,6 +326269,12 @@ cilia- and flagella-associated protein 418 CFAP418 + + + + CFAP418 + + @@ -272686,6 +326300,12 @@ COX14 + + + + COX14 + + @@ -272711,6 +326331,12 @@ MCAT + + + + MCAT + + @@ -272733,6 +326359,12 @@ hypertriglyceridemia, transient infantile hypertriglyceridemia, transient infantile + + + + HTGTI + + @@ -272745,6 +326377,12 @@ huppke-brendel syndrome huppke-brendel syndrome + + + + HPBDS + + @@ -272758,6 +326396,12 @@ porencephaly 2, formerly brain small vessel disease 2 + + + + BSVD2 + + @@ -272770,6 +326414,12 @@ trigonocephaly 2 trigonocephaly 2 + + + + TRIGNO2 + + @@ -272781,6 +326431,12 @@ thrombophilia due to thrombomodulin defect thrombophilia due to thrombomodulin defect + + + + THPH12 + + @@ -272792,6 +326448,12 @@ spastic ataxia 5, autosomal recessive spastic ataxia 5, autosomal recessive + + + + SPAX5 + + @@ -272802,6 +326464,12 @@ blood group, junior system blood group, junior system + + + + JR + + @@ -272825,6 +326493,12 @@ pseudohypoaldosteronism, type 2b pseudohypoaldosteronism, type 2b + + + + PHA2B + + @@ -272836,6 +326510,12 @@ pseudohypoaldosteronism, type 2c pseudohypoaldosteronism, type 2c + + + + PHA2C + + @@ -272860,6 +326540,12 @@ wiskott-aldrich syndrome 2 wiskott-aldrich syndrome 2 + + + + WAS2 + + @@ -272877,6 +326563,12 @@ retinitis pigmentosa 63 retinitis pigmentosa 63 + + + + RP63 + + @@ -272901,6 +326593,12 @@ pseudohypoaldosteronism, type 2d pseudohypoaldosteronism, type 2d + + + + PHA2D + + @@ -272912,6 +326610,12 @@ pseudohypoaldosteronism, type 2e pseudohypoaldosteronism, type 2e + + + + PHA2E + + @@ -272923,6 +326627,12 @@ microphthalmia/coloboma 7 microphthalmia/coloboma 7 + + + + MCOPCB7 + + @@ -272933,6 +326643,12 @@ rigidity and multifocal seizure syndrome, lethal neonatal rigidity and multifocal seizure syndrome, lethal neonatal + + + + RMFSL + + @@ -272957,6 +326673,12 @@ mental retardation, autosomal recessive 34, with variant lissencephaly intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly + + + + MRT34 + + @@ -272972,6 +326694,12 @@ This term has one or more labels that end with ', INCLUDED'. cone-rod dystrophy 16 + + + + CORD16 + + @@ -272995,6 +326723,12 @@ psychomotor retardation, epilepsy, and craniofacial dysmorphism neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures + + + + NEDHCS + + @@ -273006,6 +326740,12 @@ usher syndrome, type 3b usher syndrome, type 3b + + + + USH3B + + @@ -273029,6 +326769,12 @@ FKBP14 + + + + FKBP14 + + @@ -273059,6 +326805,12 @@ chromosome 7 open reading frame 27 BRAT1 + + + + BRAT1 + + @@ -273083,6 +326835,12 @@ congenital disorder of glycosylation, type ir congenital disorder of glycosylation, type ir + + + + CDG1R + + @@ -273094,6 +326852,12 @@ mirror movements 2 mirror movements 2 + + + + MRMV2 + + @@ -273118,6 +326882,12 @@ MDFIC + + + + MDFIC + + @@ -273143,6 +326913,12 @@ TOR1AIP1 + + + + TOR1AIP1 + + @@ -273154,6 +326930,12 @@ thrombophilia due to protein s deficiency, autosomal recessive thrombophilia due to protein s deficiency, autosomal recessive + + + + THPH6 + + @@ -273179,6 +326961,12 @@ GPR179 + + + + GPR179 + + @@ -273203,6 +326991,12 @@ GATAD1 + + + + GATAD1 + + @@ -273214,6 +327008,12 @@ stroke, hemorrhagic, susceptibility to hemorrhage, intracerebral, susceptibility to + + + + ICH + + @@ -273235,6 +327035,12 @@ thrombocytosis 3 thrombocythemia 3 + + + + THCYT3 + + @@ -273246,6 +327052,12 @@ fibrochondrogenesis 2 fibrochondrogenesis 2 + + + + FBCG2 + + @@ -273301,6 +327113,12 @@ NDUFA12 + + + + NDUFA12 + + @@ -273331,6 +327149,12 @@ zinc finger swim domain-containing protein 7 ZSWIM7 + + + + ZSWIM7 + + @@ -273355,6 +327179,12 @@ LRMDA + + + + LRMDA + + @@ -273407,6 +327237,12 @@ EMC10 + + + + EMC10 + + @@ -273445,6 +327281,12 @@ ARID1B + + + + ARID1B + + @@ -273469,6 +327311,12 @@ ehlers-danlos syndrome, kyphoscoliotic type, 2 ehlers-danlos syndrome, kyphoscoliotic type, 2 + + + + EDSKSCL2 + + @@ -273481,6 +327329,12 @@ epileptic encephalopathy, early infantile, 13 developmental and epileptic encephalopathy 13 + + + + DEE13 + + @@ -273491,6 +327345,12 @@ infantile cerebellar-retinal degeneration infantile cerebellar-retinal degeneration + + + + ICRD + + @@ -273514,6 +327374,12 @@ leukoencephalopathy, brain calcifications, and cysts leukoencephalopathy, brain calcifications, and cysts + + + + LCC + + @@ -273537,6 +327403,12 @@ mental retardation, autosomal dominant 13, with neuronal migration defects, formerly cortical dysplasia, complex, with other brain malformations 13 + + + + CDCBM13 + + @@ -273548,6 +327420,12 @@ telangiectasia, cutaneous, and cancer syndrome, familial cutaneous telangiectasia and cancer syndrome, familial + + + + FCTCS + + @@ -273572,6 +327450,12 @@ night blindness, congenital stationary, type 1e night blindness, congenital stationary, type 1e + + + + CSNB1E + + @@ -273597,6 +327481,12 @@ DNAAF3 + + + + DNAAF3 + + @@ -273623,6 +327513,12 @@ DIAPH3 + + + + DIAPH3 + + @@ -273663,6 +327559,12 @@ ciliogenesis and planar polarity effector complex, subunit 1 CPLANE1 + + + + CPLANE1 + + @@ -273687,6 +327589,12 @@ ROGDI + + + + ROGDI + + @@ -273709,6 +327617,12 @@ cerebellar ataxia, neuropathy, and vestibular areflexia syndrome cerebellar ataxia, neuropathy, and vestibular areflexia syndrome + + + + CANVAS + + @@ -273721,6 +327635,12 @@ congenital disorder of glycosylation, type iil congenital disorder of glycosylation, type iil + + + + CDG2L + + @@ -273744,6 +327664,12 @@ combined oxidative phosphorylation deficiency 9 combined oxidative phosphorylation deficiency 9 + + + + COXPD9 + + @@ -273755,6 +327681,12 @@ baraitser-winter syndrome 2 baraitser-winter syndrome 2 + + + + BRWS2 + + @@ -273779,6 +327711,12 @@ P4HTM + + + + P4HTM + + @@ -273804,6 +327742,12 @@ FDX2 + + + + FDX2 + + @@ -273821,6 +327765,12 @@ dystonia 21 dystonia 21 + + + + DYT21 + + @@ -273845,6 +327795,12 @@ tetratricopeptide repeat domain-containing protein 37 SKIC3 + + + + SKIC3 + + @@ -273864,6 +327820,12 @@ podoconiosis, susceptibility to podoconiosis, susceptibility to + + + + PDCOS + + @@ -273894,6 +327856,12 @@ cea-like 2 CEACAM16 + + + + CEACAM16 + + @@ -273906,6 +327874,12 @@ bent bone dysplasia syndrome 1 bent bone dysplasia syndrome 1 + + + + BBDS1 + + @@ -273918,6 +327892,12 @@ palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1 olmsted syndrome 1 + + + + OLMS1 + + @@ -273929,6 +327909,12 @@ preeclampsia/eclampsia 5 preeclampsia/eclampsia 5 + + + + PEE5 + + @@ -273946,6 +327932,12 @@ trichohepatoenteric syndrome 2 trichohepatoenteric syndrome 2 + + + + THES2 + + @@ -273971,6 +327963,12 @@ DDHD1 + + + + DDHD1 + + @@ -273995,6 +327993,12 @@ FOCAD + + + + FOCAD + + @@ -274022,6 +328026,12 @@ This term has one or more labels that end with ', INCLUDED'. coffin-siris syndrome 2 + + + + CSS2 + + @@ -274035,6 +328045,12 @@ mental retardation, autosomal dominant 15 coffin-siris syndrome 3 + + + + CSS3 + + @@ -274048,6 +328064,12 @@ mental retardation, autosomal dominant 16 coffin-siris syndrome 4 + + + + CSS4 + + @@ -274079,6 +328101,12 @@ src-interacting protein KANK2 + + + + KANK2 + + @@ -274102,6 +328130,12 @@ acrodysostosis 2 with or without hormone resistance acrodysostosis 2 with or without hormone resistance + + + + ACRDYS2 + + @@ -274113,6 +328147,12 @@ deafness, autosomal dominant 4b deafness, autosomal dominant 4b + + + + DFNA4B + + @@ -274124,6 +328164,12 @@ joubert syndrome 17 joubert syndrome 17 + + + + JBTS17 + + @@ -274135,6 +328181,12 @@ diarrhea 6 diarrhea 6 + + + + DIAR6 + + @@ -274146,6 +328198,12 @@ deafness, autosomal recessive 86 deafness, autosomal recessive 86 + + + + DFNB86 + + @@ -274169,6 +328227,12 @@ hyperekplexia 3 hyperekplexia 3 + + + + HKPX3 + + @@ -274192,6 +328256,12 @@ hyperekplexia 2 hyperekplexia 2 + + + + HKPX2 + + @@ -274222,6 +328292,12 @@ kiaa0590 IFT140 + + + + IFT140 + + @@ -274233,6 +328309,12 @@ uv-sensitive syndrome 2 uv-sensitive syndrome 2 + + + + UVSS2 + + @@ -274250,6 +328332,12 @@ keratoconus 5 keratoconus 5 + + + + KTCN5 + + @@ -274267,6 +328355,12 @@ keratoconus 6 keratoconus 6 + + + + KTCN6 + + @@ -274284,6 +328378,12 @@ keratoconus 8 keratoconus 8 + + + + KTCN8 + + @@ -274301,6 +328401,12 @@ keratoconus 7 keratoconus 7 + + + + KTCN7 + + @@ -274330,6 +328436,12 @@ isoprenoid synthase domain-containing protein CRPPA + + + + CRPPA + + @@ -274354,6 +328466,12 @@ UVSSA + + + + UVSSA + + @@ -274377,6 +328495,12 @@ MYO1H + + + + MYO1H + + @@ -274400,6 +328524,12 @@ uv-sensitive syndrome 3 uv-sensitive syndrome 3 + + + + UVSS3 + + @@ -274412,6 +328542,12 @@ walker-warburg syndrome or muscle-eye-brain disease, ispd-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 + + + + MDDGA7 + + @@ -274428,6 +328564,12 @@ mean platelet volume/count quantitative trait locus 4 mean platelet volume/count quantitative trait locus 4 + + + + MPVCQTL4 + + @@ -274444,6 +328586,12 @@ mean platelet volume/count quantitative trait locus 5 mean platelet volume/count quantitative trait locus 5 + + + + MPVCQTL5 + + @@ -274460,6 +328608,12 @@ mean platelet volume/count quantitative trait locus 6 mean platelet volume/count quantitative trait locus 6 + + + + MPVCQTL6 + + @@ -274486,6 +328640,12 @@ COQ6 + + + + COQ6 + + @@ -274514,6 +328674,12 @@ ring finger protein 170 RNF170 + + + + RNF170 + + @@ -274537,6 +328703,12 @@ coenzyme Q10 deficiency, primary, 6 coenzyme Q10 deficiency, primary, 6 + + + + COQ10D6 + + @@ -274560,6 +328732,12 @@ coenzyme Q10 deficiency, primary, 2 coenzyme Q10 deficiency, primary, 2 + + + + COQ10D2 + + @@ -274583,6 +328761,12 @@ coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency, primary, 3 + + + + COQ10D3 + + @@ -274595,6 +328779,12 @@ neuropathy, hereditary sensory and autonomic, type 6 neuropathy, hereditary sensory and autonomic, type 6 + + + + HSAN6 + + @@ -274618,6 +328808,12 @@ coenzyme Q10 deficiency, primary, 5 coenzyme Q10 deficiency, primary, 5 + + + + COQ10D5 + + @@ -274635,6 +328831,12 @@ stuttering, familial persistent, 3 stuttering, familial persistent, 3 + + + + STUT3 + + @@ -274661,6 +328863,12 @@ PATL2 + + + + PATL2 + + @@ -274684,6 +328892,12 @@ cortisone reductase deficiency 2 cortisone reductase deficiency 2 + + + + CORTRD2 + + @@ -274717,6 +328931,12 @@ CCDC78 + + + + CCDC78 + + @@ -274741,6 +328961,12 @@ MTO1 + + + + MTO1 + + @@ -274758,6 +328984,12 @@ stuttering, familial persistent, 4 stuttering, familial persistent, 4 + + + + STUT4 + + @@ -274769,6 +329001,12 @@ auriculocondylar syndrome 2a auriculocondylar syndrome 2a + + + + ARCND2A + + @@ -274819,6 +329057,12 @@ cardiomyopathy, dilated, 2b cardiomyopathy, dilated, 2b + + + + CMD2B + + @@ -274842,6 +329086,12 @@ microcephaly 8, primary, autosomal recessive microcephaly 8, primary, autosomal recessive + + + + MCPH8 + + @@ -274886,6 +329136,12 @@ bone marrow failure syndrome 1 bone marrow failure syndrome 1 + + + + BMFS1 + + @@ -274903,6 +329159,12 @@ cardiomyopathy, familial hypertrophic, 21 cardiomyopathy, familial hypertrophic, 21 + + + + CMH21 + + @@ -274928,6 +329190,12 @@ CCDC103 + + + + CCDC103 + + @@ -274951,6 +329219,12 @@ pontocerebellar hypoplasia, type 1b pontocerebellar hypoplasia, type 1b + + + + PCH1B + + @@ -274975,6 +329249,12 @@ ciliary dyskinesia, primary, 17, with or without situs inversus ciliary dyskinesia, primary, 17 + + + + CILD17 + + @@ -275020,6 +329300,12 @@ PHYKPL + + + + PHYKPL + + @@ -275049,6 +329335,12 @@ pontine tegmental cap dysplasia pontine tegmental cap dysplasia + + + + PTCD + + @@ -275071,6 +329363,12 @@ cataract, autosomal recessive congenital 5 cataract 38 + + + + CTRCT38 + + @@ -275087,6 +329385,12 @@ membranous nephropathy, susceptibility to membranous nephropathy, susceptibility to + + + + MBNP + + @@ -275122,6 +329426,12 @@ COX20 + + + + COX20 + + @@ -275133,6 +329443,12 @@ immunodeficiency, common variable, 7 immunodeficiency, common variable, 7 + + + + CVID7 + + @@ -275156,6 +329472,12 @@ immunodeficiency, common variable, 8, with autoimmunity immunodeficiency, common variable, 8, with autoimmunity + + + + CVID8 + + @@ -275167,6 +329489,12 @@ cornelia lange lange syndrome 4 with or without midline brain defects cornelia lange lange syndrome 4 with or without midline brain defects + + + + CDLS4 + + @@ -275191,6 +329519,12 @@ combined oxidative phosphorylation deficiency 10 combined oxidative phosphorylation deficiency 10 + + + + COXPD10 + + @@ -275202,6 +329536,12 @@ ceroid lipofuscinosis, neuronal, 11 ceroid lipofuscinosis, neuronal, 11 + + + + CLN11 + + @@ -275226,6 +329566,12 @@ riboflavin transporter deficiency, type 2 brown-vialetto-van laere syndrome 2 + + + + BVVLS2 + + @@ -275249,6 +329595,12 @@ SCUBE3 + + + + SCUBE3 + + @@ -275272,6 +329624,12 @@ porokeratosis 7, multiple types porokeratosis 7, multiple types + + + + POROK7 + + @@ -275297,6 +329655,12 @@ KNSTRN + + + + KNSTRN + + @@ -275321,6 +329685,12 @@ CDK19 + + + + CDK19 + + @@ -275347,6 +329717,12 @@ urolithiasis, dha adenine phosphoribosyltransferase deficiency + + + + APRTD + + @@ -275370,6 +329746,12 @@ CEP63 + + + + CEP63 + + @@ -275393,6 +329775,12 @@ SERAC1 + + + + SERAC1 + + @@ -275417,6 +329805,12 @@ TMEM165 + + + + TMEM165 + + @@ -275441,6 +329835,12 @@ congenital disorder of glycosylation, type iik congenital disorder of glycosylation, type iik + + + + CDG2K + + @@ -275464,6 +329864,12 @@ seckel syndrome 6 seckel syndrome 6 + + + + SCKL6 + + @@ -275487,6 +329893,12 @@ PIGO + + + + PIGO + + @@ -275497,6 +329909,12 @@ prostate cancer, hereditary, 2 prostate cancer, hereditary, 2 + + + + HPC2 + + @@ -275508,6 +329926,12 @@ intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies + + + + IMAGE + + @@ -275531,6 +329955,12 @@ glucocorticoid deficiency 4 with or without mineralocorticoid deficiency glucocorticoid deficiency 4 with or without mineralocorticoid deficiency + + + + GCCD4 + + @@ -275556,6 +329986,12 @@ MPC1 + + + + MPC1 + + @@ -275581,6 +330017,12 @@ MEGDEL 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome + + + + MEGDEL + + @@ -275591,6 +330033,12 @@ basal cell carcinoma, susceptibility to, 7 basal cell carcinoma, susceptibility to, 7 + + + + BCC7 + + @@ -275613,6 +330061,12 @@ mitochondrial pyruvate carrier deficiency mitochondrial pyruvate carrier deficiency + + + + MPYCD + + @@ -275624,6 +330078,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 + + + + PFBMFT1 + + @@ -275635,6 +330095,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 + + + + PFBMFT2 + + @@ -275658,6 +330124,12 @@ facial paresis, hereditary congenital, 3 facial paresis, hereditary congenital, 3 + + + + HCFP3 + + @@ -275670,6 +330142,12 @@ john milton hagen blood group system blood group, john milton hagen system + + + + JMH + + @@ -275686,6 +330164,12 @@ uric acid concentration, serum, quantitative trait locus 5 uric acid concentration, serum, quantitative trait locus 5 + + + + UAQTL5 + + @@ -275702,6 +330186,12 @@ uric acid concentration, serum, quantitative trait locus 6 uric acid concentration, serum, quantitative trait locus 6 + + + + UAQTL6 + + @@ -275726,6 +330216,12 @@ interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome + + + + JEB7 + + @@ -275750,6 +330246,12 @@ hyperphosphatasia with impaired intellectual development syndrome 2 hyperphosphatasia with impaired intellectual development syndrome 2 + + + + HPMRS2 + + @@ -275763,6 +330265,12 @@ myasthenic syndrome, congenital, with tubular aggregates 2 myasthenic syndrome, congenital, 13 + + + + CMS13 + + @@ -275778,6 +330286,12 @@ spinal muscular atrophy, distal, harding type 5b neuronopathy, distal hereditary motor, autosomal dominant 12 + + + + HMND12 + + @@ -275800,6 +330314,12 @@ sotos syndrome 2, formerly malan syndrome + + + + MALNS + + @@ -275823,6 +330343,12 @@ cerebellar dysfunction with variable cognitive and behavioral abnormalities cerebellar dysfunction with variable cognitive and behavioral abnormalities + + + + CECBA + + @@ -275848,6 +330374,12 @@ IFITM5 + + + + IFITM5 + + @@ -275872,6 +330404,12 @@ CFAP53 + + + + CFAP53 + + @@ -275897,6 +330435,12 @@ PET100 + + + + PET100 + + @@ -275921,6 +330465,12 @@ PET117 + + + + PET117 + + @@ -275945,6 +330495,12 @@ COA6 + + + + COA6 + + @@ -275970,6 +330526,12 @@ COA3 + + + + COA3 + + @@ -275995,6 +330557,12 @@ SIK3 + + + + SIK3 + + @@ -276018,6 +330586,12 @@ heterotaxy, visceral, 6, autosomal heterotaxy, visceral, 6, autosomal + + + + HTX6 + + @@ -276041,6 +330615,12 @@ SNX10 + + + + SNX10 + + @@ -276052,6 +330632,12 @@ tremor, hereditary essential, 4 tremor, hereditary essential, 4 + + + + ETM4 + + @@ -276078,6 +330664,12 @@ POC1A + + + + POC1A + + @@ -276104,6 +330696,12 @@ POC1B + + + + POC1B + + @@ -276128,6 +330726,12 @@ MFF + + + + MFF + + @@ -276152,6 +330756,12 @@ POGZ + + + + POGZ + + @@ -276177,6 +330787,12 @@ EOGT + + + + EOGT + + @@ -276188,6 +330804,12 @@ soph syndrome short stature, optic nerve atrophy, and pelger-huet anomaly + + + + SOPH + + @@ -276211,6 +330833,12 @@ myopathy, centronuclear, 4 myopathy, centronuclear, 4 + + + + CNM4 + + @@ -276234,6 +330862,12 @@ amyotrophic lateral sclerosis 18 amyotrophic lateral sclerosis 18 + + + + ALS18 + + @@ -276257,6 +330891,12 @@ cfhr5 nephropathy c3 glomerulopathy 3 + + + + C3G3 + + @@ -276268,6 +330908,12 @@ multiple sclerosis, susceptibility to, 5 multiple sclerosis, susceptibility to, 5 + + + + MS5 + + @@ -276291,6 +330937,12 @@ soft syndrome short stature, onychodysplasia, facial dysmorphism, and hypotrichosis + + + + SOFT + + @@ -276314,6 +330966,12 @@ adams-oliver syndrome 3 adams-oliver syndrome 3 + + + + AOS3 + + @@ -276325,6 +330983,12 @@ joubert syndrome 18 joubert syndrome 18 + + + + JBTS18 + + @@ -276349,6 +331013,12 @@ loeys-dietz syndrome 4 loeys-dietz syndrome 4 + + + + LDS4 + + @@ -276371,6 +331041,12 @@ interstitial nephritis, karyomegalic interstitial nephritis, karyomegalic + + + + KMIN + + @@ -276382,6 +331058,12 @@ weill-marchesani syndrome 3 weill-marchesani syndrome 3 + + + + WMS3 + + @@ -276393,6 +331075,12 @@ alternating hemiplegia of childhood 2 alternating hemiplegia of childhood 2 + + + + AHC2 + + @@ -276417,6 +331105,12 @@ spermatogenic failure with defective sperm annulus spermatogenic failure 10 + + + + SPGF10 + + @@ -276430,6 +331124,12 @@ bicuspid aortic valve aortic valve disease 2 + + + + AOVD2 + + @@ -276453,6 +331153,12 @@ REPS1 + + + + REPS1 + + @@ -276470,6 +331176,12 @@ nystagmus 7, congenital, autosomal dominant nystagmus 7, congenital, autosomal dominant + + + + NYS7 + + @@ -276501,6 +331213,12 @@ protein o-mannose beta-1,4-n-acetylglucosaminyltransferase 2 POMGNT2 + + + + POMGNT2 + + @@ -276525,6 +331243,12 @@ ODAPH + + + + ODAPH + + @@ -276537,6 +331261,12 @@ walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 + + + + MDDGA8 + + @@ -276548,6 +331278,12 @@ spinocerebellar ataxia, autosomal recessive 13 spinocerebellar ataxia, autosomal recessive 13 + + + + SCAR13 + + @@ -276571,6 +331307,12 @@ amelogenesis imperfecta, hypomaturation type, iia4 amelogenesis imperfecta, hypomaturation type, iia4 + + + + AI2A4 + + @@ -276594,6 +331336,12 @@ polymicrogyria with seizures microcephaly, short stature, and polymicrogyria with or without seizures + + + + MSSP + + @@ -276611,6 +331359,12 @@ thyrotoxic periodic paralysis, susceptibility to, 3 thyrotoxic periodic paralysis, susceptibility to, 3 + + + + TTPP3 + + @@ -276628,6 +331382,12 @@ human herpesvirus 8, susceptibility to human herpesvirus 8, susceptibility to + + + + HHV8S + + @@ -276639,6 +331399,12 @@ hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia + + + + HH8 + + @@ -276662,6 +331428,12 @@ hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia + + + + HH9 + + @@ -276685,6 +331457,12 @@ hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia + + + + HH10 + + @@ -276708,6 +331486,12 @@ hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia + + + + HH11 + + @@ -276733,6 +331517,12 @@ hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia + + + + HH12 + + @@ -276756,6 +331546,12 @@ hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia + + + + HH13 + + @@ -276770,6 +331566,12 @@ This term has one or more labels that end with ', INCLUDED'. nephronophthisis 14 + + + + NPHP14 + + @@ -276793,6 +331595,12 @@ nephronophthisis 15 nephronophthisis 15 + + + + NPHP15 + + @@ -276820,6 +331628,12 @@ epilepsy, idiopathic generalized, susceptibility to, 12 epilepsy, idiopathic generalized, susceptibility to, 12 + + + + EIG12 + + @@ -276844,6 +331658,12 @@ CEP164 + + + + CEP164 + + @@ -276868,6 +331688,12 @@ herpes simplex encephalitis, susceptibility to, 3 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 + + + + IIAE5 + + @@ -276892,6 +331718,12 @@ herpes simplex encephalitis, susceptibility to, 4 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 + + + + IIAE6 + + @@ -276915,6 +331747,12 @@ seckel syndrome 7 seckel syndrome 7 + + + + SCKL7 + + @@ -276926,6 +331764,12 @@ microcephaly 9, primary, autosomal recessive microcephaly 9, primary, autosomal recessive + + + + MCPH9 + + @@ -276950,6 +331794,12 @@ osteogenesis imperfecta, type 13 osteogenesis imperfecta, type 13 + + + + OI13 + + @@ -276973,6 +331823,12 @@ methylmalonic aciduria and homocystinuria, cblj type methylmalonic aciduria and homocystinuria, cblj type + + + + MAHCJ + + @@ -276984,6 +331840,12 @@ hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia + + + + HH14 + + @@ -276998,6 +331860,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 3a (zellweger) + + + + PBD3A + + @@ -277021,6 +331889,12 @@ dystonia 23 dystonia 23 + + + + DYT23 + + @@ -277032,6 +331906,12 @@ deafness, autosomal recessive 98 deafness, autosomal recessive 98 + + + + DFNB98 + + @@ -277048,6 +331928,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 4a (zellweger) + + + + PBD4A + + @@ -277065,6 +331951,12 @@ peroxisome biogenesis disorder 4b peroxisome biogenesis disorder 4b + + + + PBD4B + + @@ -277089,6 +331981,12 @@ DNAAF5 + + + + DNAAF5 + + @@ -277105,6 +332003,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 5a (zellweger) + + + + PBD5A + + @@ -277122,6 +332026,12 @@ peroxisome biogenesis disorder 5b peroxisome biogenesis disorder 5b + + + + PBD5B + + @@ -277148,6 +332058,12 @@ t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations immunodeficiency 110 with lymphoproliferation + + + + IMD110 + + @@ -277159,6 +332075,12 @@ usher syndrome, type 1j usher syndrome, type 1j + + + + USH1J + + @@ -277174,6 +332096,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 6a (zellweger) + + + + PBD6A + + @@ -277191,6 +332119,12 @@ peroxisome biogenesis disorder 6b peroxisome biogenesis disorder 6b + + + + PBD6B + + @@ -277206,6 +332140,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 7a (zellweger) + + + + PBD7A + + @@ -277223,6 +332163,12 @@ peroxisome biogenesis disorder 7b peroxisome biogenesis disorder 7b + + + + PBD7B + + @@ -277247,6 +332193,12 @@ ciliary dyskinesia, primary, 18, with or without situs inversus ciliary dyskinesia, primary, 18 + + + + CILD18 + + @@ -277274,6 +332226,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 8a (zellweger) + + + + PBD8A + + @@ -277291,6 +332249,12 @@ peroxisome biogenesis disorder 8b peroxisome biogenesis disorder 8b + + + + PBD8B + + @@ -277302,6 +332266,12 @@ autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated autoinflammation, antibody deficiency, and immune dysregulation + + + + APLAID + + @@ -277318,6 +332288,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 9b + + + + PBD9B + + @@ -277341,6 +332317,12 @@ hypogonadotropic hypogonadism 15 with or without anosmia hypogonadotropic hypogonadism 15 with or without anosmia + + + + HH15 + + @@ -277366,6 +332348,12 @@ spinal muscular atrophy, distal, autosomal recessive, 5 neuronopathy, distal hereditary motor, autosomal recessive 5 + + + + HMNR5 + + @@ -277381,6 +332369,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 10a (zellweger) + + + + PBD10A + + @@ -277402,6 +332396,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 11a (zellweger) + + + + PBD11A + + @@ -277432,6 +332432,12 @@ VWA3B + + + + VWA3B + + @@ -277443,6 +332449,12 @@ peroxisome biogenesis disorder 11b peroxisome biogenesis disorder 11b + + + + PBD11B + + @@ -277472,6 +332484,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 12a (zellweger) + + + + PBD12A + + @@ -277504,6 +332522,12 @@ This term has one or more labels that end with ', INCLUDED'. peroxisome biogenesis disorder 13a (zellweger) + + + + PBD13A + + @@ -277534,6 +332558,12 @@ AAGAB + + + + AAGAB + + @@ -277559,6 +332589,12 @@ immunodeficiency 28, mycobacteriosis, autosomal recessive immunodeficiency 28 + + + + IMD28 + + @@ -277583,6 +332619,12 @@ immunodeficiency 29 immunodeficiency 29 + + + + IMD29 + + @@ -277607,6 +332649,12 @@ immunodeficiency 30 immunodeficiency 30 + + + + IMD30 + + @@ -277620,6 +332668,12 @@ stat1 deficiency, autosomal dominant immunodeficiency 31a + + + + IMD31A + + @@ -277634,6 +332688,12 @@ irf8 deficiency, autosomal dominant immunodeficiency 32a + + + + IMD32A + + @@ -277654,6 +332714,12 @@ charcot-marie-tooth disease, demyelinating, type 4f charcot-marie-tooth disease, demyelinating, type 4f + + + + CMT4F + + @@ -277664,6 +332730,12 @@ sinoatrial node dysfunction and deafness sinoatrial node dysfunction and deafness + + + + SANDD + + @@ -277687,6 +332759,12 @@ hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia + + + + HH16 + + @@ -277710,6 +332788,12 @@ spastic paraplegia 53, autosomal recessive spastic paraplegia 53, autosomal recessive + + + + SPG53 + + @@ -277733,6 +332817,12 @@ deafness, autosomal recessive 93 deafness, autosomal recessive 93 + + + + DFNB93 + + @@ -277756,6 +332846,12 @@ diamond-blackfan anemia 11 diamond-blackfan anemia 11 + + + + DBA11 + + @@ -277781,6 +332877,12 @@ BCKDK + + + + BCKDK + + @@ -277805,6 +332907,12 @@ HIKESHI + + + + HIKESHI + + @@ -277816,6 +332924,12 @@ lethal congenital contracture syndrome 4 lethal congenital contracture syndrome 4 + + + + LCCS4 + + @@ -277827,6 +332941,12 @@ ventricular tachycardia, catecholaminergic polymorphic, 4 ventricular tachycardia, catecholaminergic polymorphic, 4 + + + + CPVT4 + + @@ -277851,6 +332971,12 @@ RMND1 + + + + RMND1 + + @@ -277874,6 +333000,12 @@ PTCD3 + + + + PTCD3 + + @@ -277897,6 +333029,12 @@ peroxisome biogenesis disorder 14b peroxisome biogenesis disorder 14b + + + + PEX14B + + @@ -277926,6 +333064,12 @@ phosphoglucomutase 1 deficiency congenital disorder of glycosylation, type it + + + + CDG1T + + @@ -277950,6 +333094,12 @@ encephaloneuromyopathy, infantile, due to mitochondrial translation defect combined oxidative phosphorylation deficiency 11 + + + + COXPD11 + + @@ -277973,6 +333123,12 @@ branched-chain keto acid dehydrogenase kinase deficiency branched-chain keto acid dehydrogenase kinase deficiency + + + + BCKDKD + + @@ -277997,6 +333153,12 @@ leukoencephalopathy with thalamus and brainstem involvement and high lactate combined oxidative phosphorylation deficiency 12 + + + + COXPD12 + + @@ -278021,6 +333183,12 @@ OTOGL + + + + OTOGL + + @@ -278044,6 +333212,12 @@ perrault syndrome 2 perrault syndrome 2 + + + + PRLTS2 + + @@ -278061,6 +333235,12 @@ ectodermal dysplasia 5, hair/nail type ectodermal dysplasia 5, hair/nail type + + + + ECTD5 + + @@ -278078,6 +333258,12 @@ ectodermal dysplasia 6, hair/nail type ectodermal dysplasia 6, hair/nail type + + + + ECTD6 + + @@ -278089,6 +333275,12 @@ ectodermal dysplasia 7, hair/nail type ectodermal dysplasia 7, hair/nail type + + + + ECTD7 + + @@ -278113,6 +333305,12 @@ LRRC6 + + + + LRRC6 + + @@ -278136,6 +333334,12 @@ ectodermal dysplasia 9, hair/nail type ectodermal dysplasia 9, hair/nail type + + + + ECTD9 + + @@ -278147,6 +333351,12 @@ combined oxidative phosphorylation deficiency 13 combined oxidative phosphorylation deficiency 13 + + + + COXPD13 + + @@ -278158,6 +333368,12 @@ deafness, autosomal recessive 70, with or without adult-onset neurodegeneration deafness, autosomal recessive 70, with or without adult-onset neurodegeneration + + + + DFNB70 + + @@ -278182,6 +333398,12 @@ ciliary dyskinesia, primary, 19, with or without situs inversus ciliary dyskinesia, primary, 19 + + + + CILD19 + + @@ -278198,6 +333420,12 @@ palmoplantar keratoderma, punctate type 1b palmoplantar keratoderma, punctate type 1b + + + + PPKP1B + + @@ -278222,6 +333450,12 @@ myoclonus, familial, 1 myoclonus, familial, 1 + + + + MYOCL1 + + @@ -278234,6 +333468,12 @@ ectodermal dysplasia, hypohidrotic, autosomal dominant ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant + + + + ECTD11A + + @@ -278247,6 +333487,12 @@ ectodermal dysplasia, hypohidrotic ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive + + + + ECTD11B + + @@ -278270,6 +333516,12 @@ deafness, autosomal recessive 84b deafness, autosomal recessive 84b + + + + DFNB84B + + @@ -278293,6 +333545,12 @@ deafness, autosomal recessive 18b deafness, autosomal recessive 18b + + + + DFNB18B + + @@ -278304,6 +333562,12 @@ combined oxidative phosphorylation deficiency 14 combined oxidative phosphorylation deficiency 14 + + + + COXPD14 + + @@ -278315,6 +333579,12 @@ combined oxidative phosphorylation deficiency 15 combined oxidative phosphorylation deficiency 15 + + + + COXPD15 + + @@ -278341,6 +333611,12 @@ TAMM41 + + + + TAMM41 + + @@ -278369,6 +333645,12 @@ transmembrane protein 231 TMEM231 + + + + TMEM231 + + @@ -278394,6 +333676,12 @@ HEATR3 + + + + HEATR3 + + @@ -278411,6 +333699,12 @@ congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances congenital heart defects, multiple types, 3 + + + + CHTD3 + + @@ -278434,6 +333728,12 @@ SLFN14 + + + + SLFN14 + + @@ -278446,6 +333746,12 @@ epileptic encephalopathy, early infantile, 14 developmental and epileptic encephalopathy 14 + + + + DEE14 + + @@ -278469,6 +333775,12 @@ pontocerebellar hypoplasia, type 8 pontocerebellar hypoplasia, type 8 + + + + PCH8 + + @@ -278492,6 +333804,12 @@ obesity, morbid leptin deficiency or dysfunction + + + + LEPD + + @@ -278515,6 +333833,12 @@ obesity, morbid leptin receptor deficiency + + + + LEPRD + + @@ -278538,6 +333862,12 @@ pontocerebellar hypoplasia, type 7 pontocerebellar hypoplasia, type 7 + + + + PCH7 + + @@ -278549,6 +333879,12 @@ joubert syndrome 20 joubert syndrome 20 + + + + JBTS20 + + @@ -278559,6 +333895,12 @@ cholestasis, intrahepatic, of pregnancy 3 cholestasis, intrahepatic, of pregnancy 3 + + + + ICP3 + + @@ -278571,6 +333913,12 @@ focal facial dermal dysplasia 2, brauer-setleis type focal facial dermal dysplasia 2, brauer-setleis type + + + + FFDD2 + + @@ -278594,6 +333942,12 @@ focal facial dermal dysplasia 4 focal facial dermal dysplasia 4 + + + + FFDD4 + + @@ -278617,6 +333971,12 @@ carpenter syndrome 2 carpenter syndrome 2 + + + + CRPT2 + + @@ -278640,6 +334000,12 @@ splenomegaly, cytopenia, and vision loss retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome + + + + ROSAH + + @@ -278662,6 +334028,12 @@ congenital heart defects, multiple types, 2 congenital heart defects, multiple types, 2 + + + + CHTD2 + + @@ -278692,6 +334064,12 @@ structural maintenance of chromosomes flexible hinge domain-containing protein 1 SMCHD1 + + + + SMCHD1 + + @@ -278721,6 +334099,12 @@ kiaa1630 DHTKD1 + + + + DHTKD1 + + @@ -278745,6 +334129,12 @@ EPS8L2 + + + + EPS8L2 + + @@ -278769,6 +334159,12 @@ EPS8L3 + + + + EPS8L3 + + @@ -278786,6 +334182,12 @@ usher syndrome, type 1k usher syndrome, type 1k + + + + USH1K + + @@ -278813,6 +334215,12 @@ GATAD2B + + + + GATAD2B + + @@ -278837,6 +334245,12 @@ TECPR2 + + + + TECPR2 + + @@ -278861,6 +334275,12 @@ DDHD2 + + + + DDHD2 + + @@ -278885,6 +334305,12 @@ LRIT3 + + + + LRIT3 + + @@ -278896,6 +334322,12 @@ epilepsy, nocturnal frontal lobe, 5 epilepsy, nocturnal frontal lobe, 5 + + + + ENFL5 + + @@ -278908,6 +334340,12 @@ epileptic encephalopathy, early infantile, 15 developmental and epileptic encephalopathy 15 + + + + DEE15 + + @@ -278919,6 +334357,12 @@ basal ganglia calcification, idiopathic, 4 basal ganglia calcification, idiopathic, 4 + + + + IBGC4 + + @@ -278935,6 +334379,12 @@ This term has one or more labels that end with ', INCLUDED'. nephrotic syndrome, type 7 + + + + NPHS7 + + @@ -278959,6 +334409,12 @@ schuurs-hoeijmakers syndrome schuurs-hoeijmakers syndrome + + + + SHMS + + @@ -278970,6 +334426,12 @@ aicardi-goutieres syndrome 6 aicardi-goutieres syndrome 6 + + + + AGS6 + + @@ -278992,6 +334454,12 @@ phosphohydroxylysinuria phosphohydroxylysinuria + + + + PHLU + + @@ -279015,6 +334483,12 @@ OR2J3 + + + + OR2J3 + + @@ -279029,6 +334503,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, sid system + + + + SID + + @@ -279039,6 +334519,12 @@ blood group, globoside system blood group, globoside system + + + + GLOB + + @@ -279056,6 +334542,12 @@ ichthyosis, congenital, autosomal recessive 7 ichthyosis, congenital, autosomal recessive 7 + + + + ARCI7 + + @@ -279079,6 +334571,12 @@ ichthyosis, congenital, autosomal recessive 9 ichthyosis, congenital, autosomal recessive 9 + + + + ARCI9 + + @@ -279102,6 +334600,12 @@ ichthyosis, congenital, autosomal recessive 10 ichthyosis, congenital, autosomal recessive 10 + + + + ARCI10 + + @@ -279115,6 +334619,12 @@ charcot-marie-tooth neuropathy, type 2q charcot-marie-tooth disease, axonal, type 2q + + + + CMT2Q + + @@ -279138,6 +334648,12 @@ riboflavin transporter deficiency, type 1 riboflavin deficiency + + + + RBFVD + + @@ -279161,6 +334677,12 @@ epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive + + + + EBS4 + + @@ -279184,6 +334706,12 @@ spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum + + + + SPG56 + + @@ -279208,6 +334736,12 @@ spastic paraplegia 49, autosomal recessive, formerly neuropathy, hereditary sensory and autonomic, type ix, with developmental delay + + + + HSAN9 + + @@ -279232,6 +334766,12 @@ intellectual developmental disorder with autism and macrocephaly intellectual developmental disorder with autism and macrocephaly + + + + IDDAM + + @@ -279255,6 +334795,12 @@ spastic paraplegia 54, autosomal recessive spastic paraplegia 54, autosomal recessive + + + + SPG54 + + @@ -279278,6 +334824,12 @@ dystonia 24 dystonia 24 + + + + DYT24 + + @@ -279289,6 +334841,12 @@ spastic paraplegia 55, autosomal recessive spastic paraplegia 55, autosomal recessive + + + + SPG55 + + @@ -279313,6 +334871,12 @@ ODAD1 + + + + ODAD1 + + @@ -279336,6 +334900,12 @@ episodic pain syndrome, familial, 1 episodic pain syndrome, familial, 1 + + + + FEPS1 + + @@ -279360,6 +334930,12 @@ walker-warburg syndrome or muscle-eye-brain disease, tmem5-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 + + + + MDDGA10 + + @@ -279384,6 +334960,12 @@ congenital disorder of glycosylation, type iu congenital disorder of glycosylation, type iu + + + + CDG1U + + @@ -279395,6 +334977,12 @@ spastic paraplegia 43, autosomal recessive spastic paraplegia 43, autosomal recessive + + + + SPG43 + + @@ -279419,6 +335007,12 @@ TANC2 + + + + TANC2 + + @@ -279429,6 +335023,12 @@ spinal muscular atrophy, jokela type spinal muscular atrophy, jokela type + + + + SMAJ + + @@ -279453,6 +335053,12 @@ WAC + + + + WAC + + @@ -279476,6 +335082,12 @@ ASB10 + + + + ASB10 + + @@ -279508,6 +335120,12 @@ night blindness, congenital stationary, type 1f night blindness, congenital stationary, type 1f + + + + CSNB1F + + @@ -279531,6 +335149,12 @@ hypotrichosis 11 hypotrichosis 11 + + + + HYPT11 + + @@ -279554,6 +335178,12 @@ arthrogryposis, distal, type 5d arthrogryposis, distal, type 5d + + + + DA5D + + @@ -279578,6 +335208,12 @@ osteogenesis imperfecta, type 14 osteogenesis imperfecta, type 14 + + + + OI14 + + @@ -279602,6 +335238,12 @@ ciliary dyskinesia, primary, 20, with or without situs inversus ciliary dyskinesia, primary, 20 + + + + CILD20 + + @@ -279628,6 +335270,12 @@ EPG5 + + + + EPG5 + + @@ -279651,6 +335299,12 @@ facial dysmorphism, intellectual disability, and primordial dwarfism alazami syndrome + + + + ALAZS + + @@ -279661,6 +335315,12 @@ brachydactyly, type a1, c brachydactyly, type a1, c + + + + BDA1C + + @@ -279684,6 +335344,12 @@ dystonia 25 dystonia 25 + + + + DYT25 + + @@ -279708,6 +335374,12 @@ mental retardation, autosomal dominant 18 gand syndrome + + + + GAND + + @@ -279719,6 +335391,12 @@ neurodevelopmental disorder with spastic diplegia and visual defects neurodevelopmental disorder with spastic diplegia and visual defects + + + + NEDSDV + + @@ -279743,6 +335421,12 @@ MGME1 + + + + MGME1 + + @@ -279760,6 +335444,12 @@ alzheimer disease 17, late-onset alzheimer disease 17 + + + + AD17 + + @@ -279783,6 +335473,12 @@ spermatogenic failure 11 spermatogenic failure 11 + + + + SPGF11 + + @@ -279815,6 +335511,12 @@ colorectal cancer, susceptibility to, on chromosome 12q24 colorectal cancer, susceptibility to, 12 + + + + CRCS12 + + @@ -279838,6 +335540,12 @@ mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome 11 + + + + MTDPS11 + + @@ -279861,6 +335569,12 @@ osteopetrosis, autosomal recessive 8 osteopetrosis, autosomal recessive 8 + + + + OPTB8 + + @@ -279893,6 +335607,12 @@ autism, susceptibility to, 19 autism, susceptibility to, 19 + + + + AUTS19 + + @@ -279916,6 +335636,12 @@ left ventricular noncompaction 7 left ventricular noncompaction 7 + + + + LVNC7 + + @@ -279939,6 +335665,12 @@ microcephaly 10, primary, autosomal recessive microcephaly 10, primary, autosomal recessive + + + + MCPH10 + + @@ -279963,6 +335695,12 @@ TUBB2A + + + + TUBB2A + + @@ -279996,6 +335734,12 @@ TUBB6 + + + + TUBB6 + + @@ -280028,6 +335772,12 @@ cowden syndrome 4 cowden syndrome 4 + + + + CWS4 + + @@ -280039,6 +335789,12 @@ cowden syndrome 5 cowden syndrome 5 + + + + CWS5 + + @@ -280050,6 +335806,12 @@ cowden syndrome 6 cowden syndrome 6 + + + + CWS6 + + @@ -280073,6 +335835,12 @@ urofacial syndrome 2 urofacial syndrome 2 + + + + UFS2 + + @@ -280096,6 +335864,12 @@ microphthalmia, isolated 8 microphthalmia, isolated 8 + + + + MCOP8 + + @@ -280121,6 +335895,12 @@ ASXL3 + + + + ASXL3 + + @@ -280154,6 +335934,12 @@ mitochondrial complex 4 deficiency, nuclear type 6 mitochondrial complex 4 deficiency, nuclear type 6 + + + + MC4DN6 + + @@ -280179,6 +335965,12 @@ myasthenic syndrome, congenital, with pre- and postsynaptic defects myasthenic syndrome, congenital, 8 + + + + CMS8 + + @@ -280213,6 +336005,12 @@ lymphoproliferative syndrome 2 lymphoproliferative syndrome 2 + + + + LPFS2 + + @@ -280237,6 +336035,12 @@ epilepsy, familial adult myoclonic, 4 epilepsy, familial adult myoclonic, 4 + + + + FAME4 + + @@ -280248,6 +336052,12 @@ melanoma, cutaneous malignant, susceptibility to, 9 melanoma, cutaneous malignant, susceptibility to, 9 + + + + CMM9 + + @@ -280271,6 +336081,12 @@ maple syrup urine disease, mild variant maple syrup urine disease, mild variant + + + + MSUDMV + + @@ -280281,6 +336097,12 @@ facial dysmorphism, immunodeficiency, livedo, and short stature facial dysmorphism, immunodeficiency, livedo, and short stature + + + + FILS + + @@ -280305,6 +336127,12 @@ C12ORF57 + + + + C12ORF57 + + @@ -280329,6 +336157,12 @@ This term has one or more labels that end with ', INCLUDED'. microphthalmia/coloboma 9 + + + + MCOPCB9 + + @@ -280339,6 +336173,12 @@ retinal dystrophy, iris coloboma, and comedogenic acne syndrome retinal dystrophy, iris coloboma, and comedogenic acne syndrome + + + + RDCCAS + + @@ -280362,6 +336202,12 @@ steel syndrome steel syndrome + + + + STLS + + @@ -280374,6 +336220,12 @@ progressive external ophthalmoplegia, autosomal dominant 6 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 + + + + PEOA6 + + @@ -280397,6 +336249,12 @@ mitochondrial complex 3 deficiency, nuclear type 2 mitochondrial complex 3 deficiency, nuclear type 2 + + + + MC3DN2 + + @@ -280420,6 +336278,12 @@ mitochondrial complex 3 deficiency, nuclear type 3 mitochondrial complex 3 deficiency, nuclear type 3 + + + + MC3DN3 + + @@ -280443,6 +336307,12 @@ mitochondrial complex 3 deficiency, nuclear type 4 mitochondrial complex 3 deficiency, nuclear type 4 + + + + MC3DN4 + + @@ -280466,6 +336336,12 @@ mitochondrial complex 3 deficiency, nuclear type 5 mitochondrial complex 3 deficiency, nuclear type 5 + + + + MC3DN5 + + @@ -280484,6 +336360,12 @@ mental retardation, autosomal recessive 35 intellectual developmental disorder, autosomal recessive 35 + + + + MRT35 + + @@ -280501,6 +336383,12 @@ cone-rod dystrophy 17 cone-rod dystrophy 17 + + + + CORD17 + + @@ -280521,6 +336409,12 @@ l-threonine dehydrogenase, pseudogene l-threonine dehydrogenase, pseudogene + + + + TDH + + @@ -280545,6 +336439,12 @@ TLCD3B + + + + TLCD3B + + @@ -280568,6 +336468,12 @@ albinism, oculocutaneous, type 7 albinism, oculocutaneous, type 7 + + + + OCA7 + + @@ -280592,6 +336498,12 @@ walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 + + + + MDDGA11 + + @@ -280602,6 +336514,12 @@ combined d-2- and l-2-hydroxyglutaric aciduria combined d-2- and l-2-hydroxyglutaric aciduria + + + + D2L2AD + + @@ -280613,6 +336531,12 @@ cardiomyopathy, dilated, 1ii cardiomyopathy, dilated, 1ii + + + + CMD1II + + @@ -280636,6 +336560,12 @@ charcot-marie-tooth disease, dominant intermediate f charcot-marie-tooth disease, dominant intermediate f + + + + CMTDIF + + @@ -280661,6 +336591,12 @@ PGAP2 + + + + PGAP2 + + @@ -280684,6 +336620,12 @@ cataract 39, multiple types cataract 39, multiple types + + + + CTRCT39 + + @@ -280697,6 +336639,12 @@ This term has one or more labels that end with ', INCLUDED'. dyskeratosis congenita, autosomal recessive 5 + + + + DKCB5 + + @@ -280720,6 +336668,12 @@ lissencephaly 5 lissencephaly 5 + + + + LIS5 + + @@ -280736,6 +336690,12 @@ birth weight quantitative trait locus 4 birth weight quantitative trait locus 4 + + + + BWQTL4 + + @@ -280760,6 +336720,12 @@ macrothrombocytopenia, autosomal dominant, actn1-related bleeding disorder, platelet-type, 15 + + + + BDPLT15 + + @@ -280777,6 +336743,12 @@ restless legs syndrome, susceptibility to, 8 restless legs syndrome, susceptibility to, 8 + + + + RLS8 + + @@ -280799,6 +336771,12 @@ osteosclerotic metaphyseal dysplasia osteosclerotic metaphyseal dysplasia + + + + OSMD + + @@ -280824,6 +336802,12 @@ ATP5MD + + + + ATP5MD + + @@ -280837,6 +336821,12 @@ immunodeficiency 11a immunodeficiency 11a + + + + IMD11A + + @@ -280861,6 +336851,12 @@ immunodeficiency 56 immunodeficiency 56 + + + + IMD56 + + @@ -280873,6 +336869,12 @@ agammaglobulinemia, autosomal recessive, due to pik3r1 defect agammaglobulinemia 7, autosomal recessive + + + + AGM7 + + @@ -280897,6 +336899,12 @@ KCNU1 + + + + KCNU1 + + @@ -280919,6 +336927,12 @@ ataxia-oculomotor apraxia 3 ataxia-oculomotor apraxia 3 + + + + AOA3 + + @@ -280943,6 +336957,12 @@ hydrocephalus, nonsyndromic, autosomal recessive 2, formerly hydrocephalus, congenital, 2, with or without brain or eye anomalies + + + + HYC2 + + @@ -280955,6 +336975,12 @@ osteogenesis imperfecta, type 15 osteogenesis imperfecta, type 15 + + + + OI15 + + @@ -280966,6 +336992,12 @@ osteoporosis, early-onset, susceptibility to bone mineral density quantitative trait locus 16 + + + + BMND16 + + @@ -280989,6 +337021,12 @@ smith-mccort dysplasia 2 smith-mccort dysplasia 2 + + + + SMC2 + + @@ -281012,6 +337050,12 @@ advanced sleep phase syndrome, familial, 2 advanced sleep phase syndrome, familial, 2 + + + + FASPS2 + + @@ -281023,6 +337067,12 @@ palmoplantar carcinoma, multiple self-healing palmoplantar carcinoma, multiple self-healing + + + + MSPC + + @@ -281046,6 +337096,12 @@ polydactyly, postaxial, type a6 polydactyly, postaxial, type a6 + + + + PAPA6 + + @@ -281058,6 +337114,12 @@ mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4b mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4b + + + + MC5DN4B + + @@ -281069,6 +337131,12 @@ schizophrenia 18 with or without an affective disorder schizophrenia 18 + + + + SCZD18 + + @@ -281092,6 +337160,12 @@ retinitis pigmentosa 66 retinitis pigmentosa 66 + + + + RP66 + + @@ -281115,6 +337189,12 @@ anemia, hypochromic microcytic, with iron overload 2 anemia, hypochromic microcytic, with iron overload 2 + + + + AHMIO2 + + @@ -281138,6 +337218,12 @@ cardiomyopathy, dilated, 1jj cardiomyopathy, dilated, 1jj + + + + CMD1JJ + + @@ -281169,6 +337255,12 @@ congenital short bowel syndrome congenital short bowel syndrome + + + + CSBS + + @@ -281193,6 +337285,12 @@ lipodystrophy, familial partial, type 5 lipodystrophy, familial partial, type 5 + + + + FPLD5 + + @@ -281216,6 +337314,12 @@ SMIM1 + + + + SMIM1 + + @@ -281239,6 +337343,12 @@ nephrotic syndrome, type 8 nephrotic syndrome, type 8 + + + + NPHS8 + + @@ -281269,6 +337379,12 @@ sugen kinase 196 POMK + + + + POMK + + @@ -281285,6 +337401,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, dilated, 1kk + + + + CMD1KK + + @@ -281297,6 +337419,12 @@ walker-warburg syndrome or muscle-eye-brain disease, pomk-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 + + + + MDDGA12 + + @@ -281321,6 +337449,12 @@ METTL23 + + + + METTL23 + + @@ -281345,6 +337479,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, vel system + + + + VEL + + @@ -281368,6 +337508,12 @@ hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia + + + + HH17 + + @@ -281391,6 +337537,12 @@ hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia + + + + HH18 + + @@ -281416,6 +337568,12 @@ cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 + + + + CAMRQ4 + + @@ -281439,6 +337597,12 @@ hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia + + + + HH19 + + @@ -281462,6 +337626,12 @@ hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia + + + + HH20 + + @@ -281485,6 +337655,12 @@ hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia + + + + HH21 + + @@ -281496,6 +337672,12 @@ fanconi anemia, complementation group q fanconi anemia, complementation group q + + + + FANCQ + + @@ -281521,6 +337703,12 @@ congenital disorder of glycosylation, type iv, formerly congenital disorder of deglycosylation 1 + + + + CDDG1 + + @@ -281544,6 +337732,12 @@ cataract 15, multiple types cataract 15, multiple types + + + + CTRCT15 + + @@ -281568,6 +337762,12 @@ CERS3 + + + + CERS3 + + @@ -281591,6 +337791,12 @@ cataract 19, multiple types cataract 19, multiple types + + + + CTRCT19 + + @@ -281602,6 +337808,12 @@ cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome 2 + + + + CFC2 + + @@ -281613,6 +337825,12 @@ cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome 3 + + + + CFC3 + + @@ -281636,6 +337854,12 @@ cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome 4 + + + + CFC4 + + @@ -281659,6 +337883,12 @@ hypomyelination with brainstem and spinal cord involvement and leg spasticity hypomyelination with brainstem and spinal cord involvement and leg spasticity + + + + HBSL + + @@ -281682,6 +337912,12 @@ cortical dysplasia, complex, with other brain malformations 2 cortical dysplasia, complex, with other brain malformations 2 + + + + CDCBM2 + + @@ -281707,6 +337943,12 @@ EXOC8 + + + + EXOC8 + + @@ -281727,9 +337969,15 @@ CMT4B3 - charcot-marie-tooth disease, type 4b3 - charcot-marie-tooth disease, type 4b3 + charcot-marie-tooth disease, demyelinating, type 4b3 + charcot-marie-tooth disease, demyelinating, type 4b3 + + + + CMT4B3 + + @@ -281753,6 +338001,12 @@ neutropenia, severe congenital, 5, autosomal recessive neutropenia, severe congenital, 5, autosomal recessive + + + + SCN5 + + @@ -281777,6 +338031,12 @@ neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies + + + + NEDBGF + + @@ -281801,6 +338061,12 @@ walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 + + + + MDDGA13 + + @@ -281832,6 +338098,12 @@ dynein regulatory complex, subunit 1, chlamydomonas, homolog of DRC1 + + + + DRC1 + + @@ -281843,6 +338115,12 @@ spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant + + + + SMALED2A + + @@ -281880,6 +338158,12 @@ udp-gal:beta-gal beta-1,3-galactosyltransferase, polypeptide 6 B3GALT6 + + + + B3GALT6 + + @@ -281909,6 +338193,12 @@ kiaa1895 FAM111A + + + + FAM111A + + @@ -281920,6 +338210,12 @@ myofibromatosis, infantile, 2 myofibromatosis, infantile, 2 + + + + IMF2 + + @@ -281932,6 +338228,12 @@ ciliary dyskinesia, primary, 21, without situs inversus ciliary dyskinesia, primary, 21 + + + + CILD21 + + @@ -281955,6 +338257,12 @@ adams-oliver syndrome 4 adams-oliver syndrome 4 + + + + AOS4 + + @@ -281966,6 +338274,12 @@ symphalangism, proximal, 1b symphalangism, proximal, 1b + + + + SYM1B + + @@ -281977,6 +338291,12 @@ perrault syndrome 4 perrault syndrome 4 + + + + PRLTS4 + + @@ -282001,6 +338321,12 @@ ADAT3 + + + + ADAT3 + + @@ -282012,6 +338338,12 @@ bone mineral density, low, susceptibility to bone mineral density quantitative trait locus 17 + + + + BMND17 + + @@ -282029,6 +338361,12 @@ albinism, oculocutaneous, type 5 albinism, oculocutaneous, type 5 + + + + OCA5 + + @@ -282040,6 +338378,12 @@ craniosynostosis 3 craniosynostosis 3 + + + + CRS3 + + @@ -282070,6 +338414,12 @@ iron-sulfur cluster assembly factor iba57 IBA57 + + + + IBA57 + + @@ -282094,6 +338444,12 @@ ISCA2 + + + + ISCA2 + + @@ -282130,6 +338486,12 @@ gmpp-beta GMPPB + + + + GMPPB + + @@ -282154,6 +338516,12 @@ NRROS + + + + NRROS + + @@ -282186,6 +338554,12 @@ dowling-degos disease 2 dowling-degos disease 2 + + + + DDD2 + + @@ -282196,6 +338570,12 @@ shaheen syndrome shaheen syndrome + + + + SHNS + + @@ -282221,6 +338601,12 @@ EXOC2 + + + + EXOC2 + + @@ -282232,6 +338618,12 @@ multiple mitochondrial dysfunctions syndrome 3 multiple mitochondrial dysfunctions syndrome 3 + + + + MMDS3 + + @@ -282256,6 +338648,12 @@ IRF2BP2 + + + + IRF2BP2 + + @@ -282268,6 +338666,12 @@ epileptic encephalopathy, early infantile, 16 developmental and epileptic encephalopathy 16 + + + + DEE16 + + @@ -282315,6 +338719,12 @@ pulmonary hypertension, primary, 2 pulmonary hypertension, primary, 2 + + + + PPH2 + + @@ -282326,6 +338736,12 @@ pulmonary hypertension, primary, 3 pulmonary hypertension, primary, 3 + + + + PPH3 + + @@ -282349,6 +338765,12 @@ pulmonary hypertension, primary, 4 pulmonary hypertension, primary, 4 + + + + PPH4 + + @@ -282373,6 +338795,12 @@ MYMK + + + + MYMK + + @@ -282396,6 +338824,12 @@ precocious puberty, central, 2 precocious puberty, central, 2 + + + + CPPB2 + + @@ -282419,6 +338853,12 @@ nemaline myopathy 8 nemaline myopathy 8 + + + + NEM8 + + @@ -282431,6 +338871,12 @@ ehlers-danlos syndrome, spondylodysplastic type, 2 ehlers-danlos syndrome, spondylodysplastic type, 2 + + + + EDSSPD2 + + @@ -282443,6 +338889,12 @@ walker-warburg syndrome or muscle-eye-brain disease, gmppb-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 + + + + MDDGA14 + + @@ -282455,6 +338907,12 @@ muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14 + + + + MDDGB14 + + @@ -282470,6 +338928,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 + + + + MDDGC14 + + @@ -282494,6 +338958,12 @@ LRIF1 + + + + LRIF1 + + @@ -282517,6 +338987,12 @@ noonan syndrome 8 noonan syndrome 8 + + + + NS8 + + @@ -282541,6 +339017,12 @@ muscular dystrophy, limb-girdle, type 2s muscular dystrophy, limb-girdle, autosomal recessive 18 + + + + LGMDR18 + + @@ -282564,6 +339046,12 @@ AK9 + + + + AK9 + + @@ -282575,6 +339063,12 @@ leber congenital amaurosis 17 leber congenital amaurosis 17 + + + + LCA17 + + @@ -282586,6 +339080,12 @@ hypocalcemia, autosomal dominant 2 hypocalcemia, autosomal dominant 2 + + + + HYPOC2 + + @@ -282610,6 +339110,12 @@ ceroid lipofuscinosis, neuronal, 13 (kufs type) ceroid lipofuscinosis, neuronal, 13 (kufs type) + + + + CLN13 + + @@ -282627,6 +339133,12 @@ estrogen resistance estrogen resistance + + + + ESTRR + + @@ -282650,6 +339162,12 @@ AK7 + + + + AK7 + + @@ -282662,6 +339180,12 @@ myopathy, centronuclear, lethal, autosomal recessive lethal congenital contracture syndrome 5 + + + + LCCS5 + + @@ -282686,6 +339210,12 @@ epileptic encephalopathy, childhood-onset developmental and epileptic encephalopathy 94 + + + + DEE94 + + @@ -282711,6 +339241,12 @@ ANKS6 + + + + ANKS6 + + @@ -282721,6 +339257,12 @@ pulmonary hypertension, neonatal, susceptibility to pulmonary hypertension, neonatal, susceptibility to + + + + PHN + + @@ -282735,6 +339277,12 @@ This term has one or more labels that end with ', INCLUDED'. left ventricular noncompaction 8 + + + + LVNC8 + + @@ -282758,6 +339306,12 @@ cone-rod dystrophy 18 cone-rod dystrophy 18 + + + + CORD18 + + @@ -282770,6 +339324,12 @@ charcot-marie-tooth neuropathy, recessive intermediate c charcot-marie-tooth disease, recessive intermediate c + + + + CMTRIC + + @@ -282781,6 +339341,12 @@ atrial fibrillation, familial, 13 atrial fibrillation, familial, 13 + + + + ATFB13 + + @@ -282804,6 +339370,12 @@ atrial fibrillation, familial, 14 atrial fibrillation, familial, 14 + + + + ATFB14 + + @@ -282814,6 +339386,12 @@ mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome + + + + MDPL + + @@ -282837,6 +339415,12 @@ nephronophthisis 16 nephronophthisis 16 + + + + NPHP16 + + @@ -282861,6 +339445,12 @@ SPIDR + + + + SPIDR + + @@ -282873,6 +339463,12 @@ spinocerebellar ataxia, autosomal recessive 14 spinocerebellar ataxia, autosomal recessive 14 + + + + SCAR14 + + @@ -282898,6 +339494,12 @@ tcr-alpha/beta deficiency immunodeficiency 7 + + + + IMD7 + + @@ -282915,6 +339517,12 @@ vesicoureteral reflux 7 vesicoureteral reflux 7 + + + + VUR7 + + @@ -282938,6 +339546,12 @@ combined oxidative phosphorylation deficiency 16 combined oxidative phosphorylation deficiency 16 + + + + COXPD16 + + @@ -282952,6 +339566,12 @@ This term has one or more labels that end with ', INCLUDED'. left ventricular noncompaction 10 + + + + LVNC10 + + @@ -282963,6 +339583,12 @@ meckel syndrome, type 11 meckel syndrome, type 11 + + + + MKS11 + + @@ -282976,6 +339602,12 @@ multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome 3 + + + + MCAHS3 + + @@ -282987,6 +339619,12 @@ paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria 2 + + + + PNH2 + + @@ -283012,6 +339650,12 @@ epilepsy, familial adult myoclonic, 5, formerly epilepsy, early-onset, 5, with or without developmental delay + + + + EPEO5 + + @@ -283035,6 +339679,12 @@ immunodeficiency 8 with lymphoproliferation immunodeficiency 8 with lymphoproliferation + + + + IMD8 + + @@ -283046,6 +339696,12 @@ dyschromatosis universalis hereditaria 3 dyschromatosis universalis hereditaria 3 + + + + DUH3 + + @@ -283070,6 +339726,12 @@ THOC6 + + + + THOC6 + + @@ -283094,6 +339756,12 @@ TM4SF20 + + + + TM4SF20 + + @@ -283119,6 +339787,12 @@ ARL2BP + + + + ARL2BP + + @@ -283143,6 +339817,12 @@ ODAD2 + + + + ODAD2 + + @@ -283168,6 +339848,12 @@ MRAP2 + + + + MRAP2 + + @@ -283191,6 +339877,12 @@ cortical dysplasia, complex, with other brain malformations 3 cortical dysplasia, complex, with other brain malformations 3 + + + + CDCBM3 + + @@ -283214,6 +339906,12 @@ cortical dysplasia, complex, with other brain malformations 4 cortical dysplasia, complex, with other brain malformations 4 + + + + CDCBM4 + + @@ -283237,6 +339935,12 @@ spermatogenic failure 12 spermatogenic failure 12 + + + + SPGF12 + + @@ -283260,6 +339964,12 @@ microcephaly 11, primary, autosomal recessive microcephaly 11, primary, autosomal recessive + + + + MCPH11 + + @@ -283271,6 +339981,12 @@ renal-hepatic-pancreatic dysplasia 2 renal-hepatic-pancreatic dysplasia 2 + + + + RHPD2 + + @@ -283301,6 +340017,12 @@ fingerin BHLHA9 + + + + BHLHA9 + + @@ -283312,6 +340034,12 @@ mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive + + + + MTDPS12B + + @@ -283324,6 +340052,12 @@ ihprf hypotonia, infantile, with psychomotor retardation and characteristic facies 1 + + + + IHPRF1 + + @@ -283347,6 +340081,12 @@ myopia 22, autosomal dominant myopia 22, autosomal dominant + + + + MYP22 + + @@ -283370,6 +340110,12 @@ CCDC111 + + + + CCDC111 + + @@ -283382,6 +340128,12 @@ multisystem proteinopathy 2 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 + + + + IBMPFD2 + + @@ -283408,6 +340160,12 @@ TRMT10C + + + + TRMT10C + + @@ -283420,6 +340178,12 @@ multisystem proteinopathy 3 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 + + + + IBMPFD3 + + @@ -283431,6 +340195,12 @@ epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency + + + + EBS3 + + @@ -283442,6 +340212,12 @@ amyotrophic lateral sclerosis 20 amyotrophic lateral sclerosis 20 + + + + ALS20 + + @@ -283471,6 +340247,12 @@ rna-binding motif- and elmo domain-containing protein 1 ELMOD3 + + + + ELMOD3 + + @@ -283482,6 +340264,12 @@ deafness, autosomal recessive 88 deafness, autosomal recessive 88 + + + + DFNB88 + + @@ -283505,6 +340293,12 @@ myopia 23, autosomal recessive myopia 23, autosomal recessive + + + + MYP23 + + @@ -283528,6 +340322,12 @@ specific language impairment 5 specific language impairment 5 + + + + SLI5 + + @@ -283566,6 +340366,12 @@ retinitis pigmentosa 82 with or without situs inversus retinitis pigmentosa 82 with or without situs inversus + + + + RP82 + + @@ -283589,6 +340395,12 @@ aortic aneurysm, familial thoracic 8 aortic aneurysm, familial thoracic 8 + + + + AAT8 + + @@ -283612,6 +340424,12 @@ infantile liver failure syndrome 1 infantile liver failure syndrome 1 + + + + ILFS1 + + @@ -283623,6 +340441,12 @@ macular degeneration, age-related, 13 macular degeneration, age-related, 13 + + + + ARMD13 + + @@ -283634,6 +340458,12 @@ combined oxidative phosphorylation deficiency 17 combined oxidative phosphorylation deficiency 17 + + + + COXPD17 + + @@ -283659,6 +340489,12 @@ ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness cardiac arrhythmia syndrome, with or without skeletal muscle weakness + + + + CARDAR + + @@ -283683,6 +340519,12 @@ ciliary dyskinesia, primary, 22, with or without situs inversus ciliary dyskinesia, primary, 22 + + + + CILD22 + + @@ -283707,6 +340549,12 @@ ciliary dyskinesia, primary, 23, with or without situs inversus ciliary dyskinesia, primary, 23 + + + + CILD23 + + @@ -283730,6 +340578,12 @@ mitochondrial complex 3 deficiency, nuclear type 6 mitochondrial complex 3 deficiency, nuclear type 6 + + + + MC3DN6 + + @@ -283753,6 +340607,12 @@ obesity, susceptibility to body mass index quantitative trait locus 18 + + + + BMIQ18 + + @@ -283775,6 +340635,12 @@ microcornea, myopic chorioretinal atrophy, and telecanthus microcornea, myopic chorioretinal atrophy, and telecanthus + + + + MMCAT + + @@ -283798,6 +340664,12 @@ WDR60 + + + + WDR60 + + @@ -283823,6 +340695,12 @@ SZT2 + + + + SZT2 + + @@ -283847,6 +340725,12 @@ DDX59 + + + + DDX59 + + @@ -283858,6 +340742,12 @@ holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate hartsfield syndrome + + + + HRTFDS + + @@ -283881,6 +340771,12 @@ immunodeficiency 12 immunodeficiency 12 + + + + IMD12 + + @@ -283905,6 +340801,12 @@ mitochondrial dna depletion syndrome 13 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) + + + + MTDPS13 + + @@ -283923,6 +340825,12 @@ epileptic encephalopathy, early infantile, 17 developmental and epileptic encephalopathy 17 + + + + DEE17 + + @@ -283933,6 +340841,12 @@ primary aldosteronism, seizures, and neurologic abnormalities primary aldosteronism, seizures, and neurologic abnormalities + + + + PASNA + + @@ -283957,6 +340871,12 @@ epileptic encephalopathy, early infantile, 18 developmental and epileptic encephalopathy 18 + + + + DEE18 + + @@ -283981,6 +340901,12 @@ ciliary dyskinesia, primary, 24, without situs inversus ciliary dyskinesia, primary, 24 + + + + CILD24 + + @@ -283993,6 +340919,12 @@ ciliary dyskinesia, primary, 25, with or without situs inversus ciliary dyskinesia, primary, 25 + + + + CILD25 + + @@ -284004,6 +340936,12 @@ basal ganglia calcification, idiopathic, 5 basal ganglia calcification, idiopathic, 5 + + + + IBGC5 + + @@ -284026,6 +340964,12 @@ bainbridge-ropers syndrome bainbridge-ropers syndrome + + + + BRPS + + @@ -284038,6 +340982,12 @@ pulmonary alveolar proteinosis, reunion island interstitial lung and liver disease + + + + ILLD + + @@ -284051,6 +341001,12 @@ This term has one or more labels that end with ', INCLUDED'. macular degeneration, age-related, 14 + + + + ARMD14 + + @@ -284076,6 +341032,12 @@ charcot-marie-tooth neuropathy, type 2r charcot-marie-tooth disease, axonal, type 2r + + + + CMT2R + + @@ -284088,6 +341050,12 @@ spastic paraplegia 79b, autosomal recessive spastic paraplegia 79b, autosomal recessive + + + + SPG79B + + @@ -284112,6 +341080,12 @@ mental retardation, autosomal recessive 37 intellectual developmental disorder, autosomal recessive 37 + + + + MRT37 + + @@ -284136,6 +341110,12 @@ CFAP298 + + + + CFAP298 + + @@ -284161,6 +341141,12 @@ GMPPA + + + + GMPPA + + @@ -284185,6 +341171,12 @@ AGBL1 + + + + AGBL1 + + @@ -284210,6 +341202,12 @@ MIEF1 + + + + MIEF1 + + @@ -284235,6 +341233,12 @@ MIEF2 + + + + MIEF2 + + @@ -284259,6 +341263,12 @@ ciliary dyskinesia, primary, 26, with or without situs inversus ciliary dyskinesia, primary, 26 + + + + CILD26 + + @@ -284283,6 +341293,12 @@ molybdenum cofactor deficiency, type c molybdenum cofactor deficiency, type c + + + + MOCODC + + @@ -284307,6 +341323,12 @@ mental retardation, autosomal dominant 21 intellectual developmental disorder, autosomal dominant 21 + + + + MRD21 + + @@ -284331,6 +341353,12 @@ short-rib thoracic dysplasia 8 with or without polydactyly short-rib thoracic dysplasia 8 with or without polydactyly + + + + SRTD8 + + @@ -284355,6 +341383,12 @@ ciliary dyskinesia, primary, 27, without situs inversus ciliary dyskinesia, primary, 27 + + + + CILD27 + + @@ -284379,6 +341413,12 @@ ciliary dyskinesia, primary, 28, with or without situs inversus ciliary dyskinesia, primary, 28 + + + + CILD28 + + @@ -284402,6 +341442,12 @@ telangiectasia, hereditary hemorrhagic, type 5 telangiectasia, hereditary hemorrhagic, type 5 + + + + HHT5 + + @@ -284414,6 +341460,12 @@ severe dermatitis, multiple allergies, and metabolic wasting syndrome erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige + + + + EPKHE + + @@ -284437,6 +341489,12 @@ alacrima, achalasia, and mental retardation syndrome alacrima, achalasia, and impaired intellectual development syndrome + + + + AAMR + + @@ -284462,6 +341520,12 @@ myopathy due to myoadenylate deaminase deficiency myopathy due to myoadenylate deaminase deficiency + + + + MMDD + + @@ -284484,6 +341548,12 @@ triosephosphate isomerase deficiency triosephosphate isomerase deficiency + + + + TPID + + @@ -284497,6 +341567,12 @@ p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency immunodeficiency 14a with lymphoproliferation, autosomal dominant + + + + IMD14A + + @@ -284520,6 +341596,12 @@ amyotrophic lateral sclerosis 19 amyotrophic lateral sclerosis 19 + + + + ALS19 + + @@ -284532,6 +341614,12 @@ mental retardation, autosomal recessive 38 intellectual developmental disorder, autosomal recessive 38 + + + + MRT38 + + @@ -284544,6 +341632,12 @@ iron overload, autosomal dominant hemochromatosis, type 5 + + + + HFE5 + + @@ -284556,6 +341650,12 @@ immunodeficiency 13 immunodeficiency 13 + + + + IMD13 + + @@ -284579,6 +341679,12 @@ STAC3 + + + + STAC3 + + @@ -284590,6 +341696,12 @@ guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification cole disease + + + + COLED + + @@ -284613,6 +341725,12 @@ corneal dystrophy, fuchs endothelial, 8 corneal dystrophy, fuchs endothelial, 8 + + + + FECD8 + + @@ -284637,6 +341755,12 @@ microphthalmia, syndromic 12 microphthalmia, syndromic 12 + + + + MCOPS12 + + @@ -284649,6 +341773,12 @@ candidiasis, familial, 8 candidiasis, familial, 8 + + + + CANDF8 + + @@ -284663,6 +341793,12 @@ This term has one or more labels that end with ', INCLUDED'. parkinson disease 19a, juvenile-onset + + + + PARK19A + + @@ -284674,6 +341810,12 @@ craniosynostosis 5, susceptibility to craniosynostosis 5, susceptibility to + + + + CRS5 + + @@ -284685,6 +341827,12 @@ parkinson disease 20, early-onset parkinson disease 20, early-onset + + + + PARK20 + + @@ -284709,6 +341857,12 @@ ERMARD + + + + ERMARD + + @@ -284732,6 +341886,12 @@ TMEM126B + + + + TMEM126B + + @@ -284757,6 +341917,12 @@ TIMMDC1 + + + + TIMMDC1 + + @@ -284783,6 +341949,12 @@ SYNE4 + + + + SYNE4 + + @@ -284797,6 +341969,12 @@ reticulate pigmentation of kitamura reticulate acropigmentation of kitamura + + + + RAK + + @@ -284841,6 +342019,12 @@ ehlers-danlos syndrome, musculocontractural type, 2 ehlers-danlos syndrome, musculocontractural type, 2 + + + + EDSMC2 + + @@ -284864,6 +342048,12 @@ deafness, autosomal recessive 76 deafness, autosomal recessive 76 + + + + DFNB76 + + @@ -284888,6 +342078,12 @@ mental retardation, autosomal recessive 39 intellectual developmental disorder, autosomal recessive 39 + + + + MRT39 + + @@ -284898,6 +342094,12 @@ testicular anomalies with or without congenital heart disease testicular anomalies with or without congenital heart disease + + + + TACHD + + @@ -284921,6 +342123,12 @@ periventricular nodular heterotopia 6 periventricular nodular heterotopia 6 + + + + PVNH6 + + @@ -284943,6 +342151,12 @@ leukemia, acute lymphoblastic, susceptibility to, 3 leukemia, acute lymphoblastic, susceptibility to, 3 + + + + ALL3 + + @@ -284954,6 +342168,12 @@ van maldergem syndrome 2 van maldergem syndrome 2 + + + + VMLDS2 + + @@ -284979,6 +342199,12 @@ schaaf-yang syndrome schaaf-yang syndrome + + + + SHFYNG + + @@ -284992,6 +342218,12 @@ neuropathy, hereditary sensory and autonomic, type 7 neuropathy, hereditary sensory and autonomic, type 7 + + + + HSAN7 + + @@ -285015,6 +342247,12 @@ ARMC5 + + + + ARMC5 + + @@ -285038,6 +342276,12 @@ diamond-blackfan anemia 12 diamond-blackfan anemia 12 + + + + DBA12 + + @@ -285061,6 +342305,12 @@ episodic pain syndrome, familial, 2 episodic pain syndrome, familial, 2 + + + + FEPS2 + + @@ -285072,6 +342322,12 @@ episodic pain syndrome, familial, 3 episodic pain syndrome, familial, 3 + + + + FEPS3 + + @@ -285095,6 +342351,12 @@ arthrogryposis, mental retardation, and seizures arthrogryposis, impaired intellectual development, and seizures + + + + AMRS + + @@ -285105,6 +342367,12 @@ multiple fibroadenomas of the breast multiple fibroadenomas of the breast + + + + MFAB + + @@ -285115,6 +342383,12 @@ hyperprolactinemia hyperprolactinemia + + + + HPRL + + @@ -285141,6 +342415,12 @@ This term has one or more labels that end with ', INCLUDED'. hypobetalipoproteinemia, familial, 1 + + + + FHBL1 + + @@ -285164,6 +342444,12 @@ immunodeficiency, common variable, 9, formerly autoimmune lymphoproliferative syndrome, type 3 + + + + ALPS3 + + @@ -285188,6 +342474,12 @@ otofaciocervical syndrome 2, with t-cell deficiency otofaciocervical syndrome 2, with t-cell deficiency + + + + OTFCS2 + + @@ -285198,6 +342490,12 @@ complement factor B deficiency complement factor B deficiency + + + + CFBD + + @@ -285221,6 +342519,12 @@ SFXN4 + + + + SFXN4 + + @@ -285244,6 +342548,12 @@ retinitis pigmentosa 67 retinitis pigmentosa 67 + + + + RP67 + + @@ -285268,6 +342578,12 @@ COQ8B + + + + COQ8B + + @@ -285291,6 +342607,12 @@ nephrotic syndrome, type 9 nephrotic syndrome, type 9 + + + + NPHS9 + + @@ -285314,6 +342636,12 @@ asparagine synthetase deficiency asparagine synthetase deficiency + + + + ASNSD + + @@ -285341,6 +342669,12 @@ spinal muscular atrophy, distal, autosomal dominant, calf-predominant neuronopathy, distal hereditary motor, autosomal dominant 6 + + + + HMND6 + + @@ -285366,6 +342700,12 @@ immunodeficiency, common variable, with central adrenal insufficiency immunodeficiency, common variable, 10 + + + + CVID10 + + @@ -285389,6 +342729,12 @@ combined oxidative phosphorylation deficiency 18 combined oxidative phosphorylation deficiency 18 + + + + COXPD18 + + @@ -285401,6 +342747,12 @@ rienhoff syndrome loeys-dietz syndrome 5 + + + + LDS5 + + @@ -285424,6 +342776,12 @@ verheij syndrome verheij syndrome + + + + VRJS + + @@ -285447,6 +342805,12 @@ FAM111B + + + + FAM111B + + @@ -285470,6 +342834,12 @@ SLC38A8 + + + + SLC38A8 + + @@ -285494,6 +342864,12 @@ CEP19 + + + + CEP19 + + @@ -285518,6 +342894,12 @@ NUP188 + + + + NUP188 + + @@ -285535,6 +342917,12 @@ otosclerosis 10 otosclerosis 10 + + + + OTSC10 + + @@ -285546,6 +342934,12 @@ alzheimer disease 18, late-onset alzheimer disease 18 + + + + AD18 + + @@ -285557,6 +342951,12 @@ macular degeneration, age-related, 15 macular degeneration, age-related, 15 + + + + ARMD15 + + @@ -285568,6 +342968,12 @@ immunodeficiency 15b immunodeficiency 15b + + + + IMD15B + + @@ -285592,6 +342998,12 @@ ox40 deficiency immunodeficiency 16 + + + + IMD16 + + @@ -285615,6 +343027,12 @@ combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency 19 + + + + COXPD19 + + @@ -285626,6 +343044,12 @@ congenital disorder of glycosylation, type iw, autosomal recessive congenital disorder of glycosylation, type iw, autosomal recessive + + + + CDG1WAR + + @@ -285650,6 +343074,12 @@ congenital disorder of glycosylation, type ix congenital disorder of glycosylation, type ix + + + + CDG1X + + @@ -285672,6 +343102,12 @@ palmoplantar keratoderma, nagashima type palmoplantar keratoderma, nagashima type + + + + PPKN + + @@ -285697,6 +343133,12 @@ neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity + + + + NEDFCF + + @@ -285719,6 +343161,12 @@ memory quantitative trait locus memory quantitative trait locus + + + + MEMRYQTL + + @@ -285729,6 +343177,12 @@ l-ferritin deficiency l-ferritin deficiency + + + + LFTD + + @@ -285752,6 +343206,12 @@ fanconi renotubular syndrome 3 fanconi renotubular syndrome 3 + + + + FRTS3 + + @@ -285777,6 +343237,12 @@ scid-like immunodeficiency, t cell-partial, B cell-positive, nk cell-positive immunodeficiency 17 + + + + IMD17 + + @@ -285801,6 +343267,12 @@ CLPX + + + + CLPX + + @@ -285818,6 +343290,12 @@ developmental dysplasia of the hip 2 developmental dysplasia of the hip 2 + + + + DDH2 + + @@ -285834,6 +343312,12 @@ This term has one or more labels that end with ', INCLUDED'. immunodeficiency 18 + + + + IMD18 + + @@ -285858,6 +343342,12 @@ arrhythmogenic right ventricular dysplasia, familial, 13 arrhythmogenic right ventricular dysplasia, familial, 13 + + + + ARVD13 + + @@ -285885,6 +343375,12 @@ severe combined immunodeficiency, t cell-negative, B cell-positive, nk cell-positive immunodeficiency 19, severe combined + + + + IMD19 + + @@ -285917,6 +343413,12 @@ rumi, drosophila, homolog of POGLUT1 + + + + POGLUT1 + + @@ -285951,6 +343453,12 @@ KPTN + + + + KPTN + + @@ -285977,6 +343485,12 @@ COA7 + + + + COA7 + + @@ -285988,6 +343502,12 @@ spastic paraplegia 72a, autosomal dominant spastic paraplegia 72a, autosomal dominant + + + + SPG72A + + @@ -286012,6 +343532,12 @@ CDIN1 + + + + CDIN1 + + @@ -286035,6 +343561,12 @@ deafness, autosomal dominant 56 deafness, autosomal dominant 56 + + + + DFNA56 + + @@ -286046,6 +343578,12 @@ short-rib thoracic dysplasia 10 with or without polydactyly short-rib thoracic dysplasia 10 with or without polydactyly + + + + SRTD10 + + @@ -286070,6 +343608,12 @@ cda, type ib anemia, congenital dyserythropoietic, type ib + + + + CDAN1B + + @@ -286094,6 +343638,12 @@ neuropathy, hereditary sensory, type 1f neuropathy, hereditary sensory, type 1f + + + + HSN1F + + @@ -286117,6 +343667,12 @@ short-rib thoracic dysplasia 11 with or without polydactyly short-rib thoracic dysplasia 11 with or without polydactyly + + + + SRTD11 + + @@ -286140,6 +343696,12 @@ joubert syndrome 21 joubert syndrome 21 + + + + JBTS21 + + @@ -286164,6 +343726,12 @@ mental retardation, autosomal recessive 41 intellectual developmental disorder, autosomal recessive 41 + + + + MRT41 + + @@ -286189,6 +343757,12 @@ NCAPD2 + + + + NCAPD2 + + @@ -286200,6 +343774,12 @@ neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation 6 + + + + NBIA6 + + @@ -286217,6 +343797,12 @@ deafness, autosomal dominant 54 deafness, autosomal dominant 54 + + + + DFNA54 + + @@ -286227,6 +343813,12 @@ leukoencephalopathy with ataxia leukoencephalopathy with ataxia + + + + LKPAT + + @@ -286244,6 +343836,12 @@ deafness, autosomal dominant 58 deafness, autosomal dominant 58 + + + + DFNA58 + + @@ -286270,6 +343868,12 @@ spastic paraplegia 57, autosomal recessive spastic paraplegia 57, autosomal recessive + + + + SPG57 + + @@ -286293,6 +343897,12 @@ warburg micro syndrome 4 warburg micro syndrome 4 + + + + WARBM4 + + @@ -286316,6 +343926,12 @@ joubert syndrome 22 joubert syndrome 22 + + + + JBTS22 + + @@ -286343,6 +343959,12 @@ ERCC6L2 + + + + ERCC6L2 + + @@ -286370,6 +343992,12 @@ swnts2 schwannomatosis 2 + + + + SWN2 + + @@ -286392,6 +344020,12 @@ myopathy with extrapyramidal signs myopathy with extrapyramidal signs + + + + MPXPS + + @@ -286409,6 +344043,12 @@ dowling-degos disease 3 dowling-degos disease 3 + + + + DDD3 + + @@ -286432,6 +344072,12 @@ spastic paraplegia 62, autosomal recessive spastic paraplegia 62, autosomal recessive + + + + SPG62 + + @@ -286455,6 +344101,12 @@ spastic paraplegia 64, autosomal recessive spastic paraplegia 64, autosomal recessive + + + + SPG64 + + @@ -286481,6 +344133,12 @@ HFM1 + + + + HFM1 + + @@ -286504,6 +344162,12 @@ spastic paraplegia 61, autosomal recessive spastic paraplegia 61, autosomal recessive + + + + SPG61 + + @@ -286515,6 +344179,12 @@ spastic paraplegia 63, autosomal recessive spastic paraplegia 63, autosomal recessive + + + + SPG63 + + @@ -286527,6 +344197,12 @@ vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome + + + + VAIHS + + @@ -286538,6 +344214,12 @@ dowling-degos disease 4 dowling-degos disease 4 + + + + DDD4 + + @@ -286555,6 +344237,12 @@ epilepsy, familial temporal lobe, 6 epilepsy, familial temporal lobe, 6 + + + + ETL6 + + @@ -286579,6 +344267,12 @@ PLD3 + + + + PLD3 + + @@ -286601,6 +344295,12 @@ morbid obesity and spermatogenic failure morbid obesity and spermatogenic failure + + + + MOSPGF + + @@ -286624,6 +344324,12 @@ poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis + + + + POIKTMP + + @@ -286648,6 +344354,12 @@ spinocerebellar ataxia, autosomal recessive 15 spinocerebellar ataxia, autosomal recessive 15 + + + + SCAR15 + + @@ -286659,6 +344371,12 @@ auriculocondylar syndrome 3 auriculocondylar syndrome 3 + + + + ARCND3 + + @@ -286682,6 +344400,12 @@ immunodeficiency 20 immunodeficiency 20 + + + + IMD20 + + @@ -286692,6 +344416,12 @@ sacral agenesis with vertebral anomalies sacral agenesis with vertebral anomalies + + + + SAVA + + @@ -286715,6 +344445,12 @@ mitchell-riley syndrome mitchell-riley syndrome + + + + MTCHRS + + @@ -286726,6 +344462,12 @@ alzheimer disease 19, late-onset alzheimer disease 19 + + + + AD19 + + @@ -286756,6 +344498,12 @@ otu deubiquitinase with linear linkage specificity OTULIN + + + + OTULIN + + @@ -286779,6 +344527,12 @@ bone marrow failure syndrome 2 bone marrow failure syndrome 2 + + + + BMFS2 + + @@ -286804,6 +344558,12 @@ hyperphosphatasia with mental retardation syndrome 4 hyperphosphatasia with impaired intellectual development syndrome 4 + + + + HPMRS4 + + @@ -286828,6 +344588,12 @@ SLC7A14 + + + + SLC7A14 + + @@ -286851,6 +344617,12 @@ renal hypodysplasia/aplasia 2 renal hypodysplasia/aplasia 2 + + + + RHDA2 + + @@ -286873,6 +344645,12 @@ bosch-boonstra-schaaf optic atrophy syndrome bosch-boonstra-schaaf optic atrophy syndrome + + + + BBSOAS + + @@ -286884,6 +344662,12 @@ premature ovarian failure 8 premature ovarian failure 8 + + + + POF8 + + @@ -286907,6 +344691,12 @@ premature ovarian failure 9 premature ovarian failure 9 + + + + POF9 + + @@ -286930,6 +344720,12 @@ retinitis pigmentosa 68 retinitis pigmentosa 68 + + + + RP68 + + @@ -286953,6 +344749,12 @@ pachyonychia congenita 3 pachyonychia congenita 3 + + + + PC3 + + @@ -286976,6 +344778,12 @@ pachyonychia congenita 4 pachyonychia congenita 4 + + + + PC4 + + @@ -287000,6 +344808,12 @@ DOCK7 + + + + DOCK7 + + @@ -287023,6 +344837,12 @@ nemaline myopathy 9 nemaline myopathy 9 + + + + NEM9 + + @@ -287045,6 +344865,12 @@ palmoplantar keratoderma, nonepidermolytic, focal or diffuse palmoplantar keratoderma, nonepidermolytic, focal or diffuse + + + + PPKNEFD + + @@ -287070,6 +344896,12 @@ VPS51 + + + + VPS51 + + @@ -287094,6 +344926,12 @@ SETD5 + + + + SETD5 + + @@ -287106,6 +344944,12 @@ epileptic encephalopathy, early infantile, 19 developmental and epileptic encephalopathy 19 + + + + DEE19 + + @@ -287118,6 +344962,12 @@ cardiomyopathy, atrial dilated, with atrial standstill atrial standstill 2 + + + + ATRST2 + + @@ -287144,6 +344994,12 @@ WASHC4 + + + + WASHC4 + + @@ -287176,6 +345032,12 @@ moyamoya disease 6 with or without achalasia moyamoya disease 6 with or without achalasia + + + + MYMY6 + + @@ -287198,6 +345060,12 @@ carbonic anhydrase 5a deficiency, hyperammonemia due to carbonic anhydrase 5a deficiency, hyperammonemia due to + + + + CA5AD + + @@ -287212,6 +345080,12 @@ polymicrogyria, bilateral perisylvian, autosomal recessive cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian) + + + + CDCBM14B + + @@ -287243,6 +345117,12 @@ KIZ + + + + KIZ + + @@ -287266,6 +345146,12 @@ immunodeficiency 22 immunodeficiency 22 + + + + IMD22 + + @@ -287295,6 +345181,12 @@ kinase d-interacting substrate, 220-kd KIDINS220 + + + + KIDINS220 + + @@ -287317,6 +345209,12 @@ microcephaly, progressive, with seizures and cerebral and cerebellar atrophy microcephaly, progressive, with seizures and cerebral and cerebellar atrophy + + + + MSCCA + + @@ -287341,6 +345239,12 @@ mental retardation, autosomal dominant 23 intellectual developmental disorder, autosomal dominant 23 + + + + MRD23 + + @@ -287364,6 +345268,12 @@ GRXCR2 + + + + GRXCR2 + + @@ -287387,6 +345297,12 @@ cortical dysplasia, complex, with other brain malformations 5 cortical dysplasia, complex, with other brain malformations 5 + + + + CDCBM5 + + @@ -287411,6 +345327,12 @@ immunodeficiency, common variable, 11 immunodeficiency, common variable, 11 + + + + CVID11 + + @@ -287422,6 +345344,12 @@ spinocerebellar ataxia, autosomal recessive 16 spinocerebellar ataxia, autosomal recessive 16 + + + + SCAR16 + + @@ -287445,6 +345373,12 @@ atrial fibrillation, familial, 15 atrial fibrillation, familial, 15 + + + + ATFB15 + + @@ -287456,6 +345390,12 @@ cortical dysplasia, complex, with other brain malformations 6 cortical dysplasia, complex, with other brain malformations 6 + + + + CDCBM6 + + @@ -287481,6 +345421,12 @@ oomd oocyte/zygote/embryo maturation arrest 1 + + + + OZEMA1 + + @@ -287493,6 +345439,12 @@ desbuquois dysplasia 2 desbuquois dysplasia 2 + + + + DBQD2 + + @@ -287503,6 +345455,12 @@ congenital heart defects, multiple types, 4 congenital heart defects, multiple types, 4 + + + + CHTD4 + + @@ -287526,6 +345484,12 @@ retinitis pigmentosa 69 retinitis pigmentosa 69 + + + + RP69 + + @@ -287550,6 +345514,12 @@ AP1S3 + + + + AP1S3 + + @@ -287573,6 +345543,12 @@ white sponge nevus 2 white sponge nevus 2 + + + + WSN2 + + @@ -287597,6 +345573,12 @@ NADK2 + + + + NADK2 + + @@ -287621,6 +345603,12 @@ short stature with microcephaly and distinctive facies rothmund-thomson syndrome, type 3 + + + + RTS3 + + @@ -287644,6 +345632,12 @@ AHDC1 + + + + AHDC1 + + @@ -287670,6 +345664,12 @@ NUDT15 + + + + NUDT15 + + @@ -287693,6 +345693,12 @@ FSIP2 + + + + FSIP2 + + @@ -287716,6 +345722,12 @@ CLDN9 + + + + CLDN9 + + @@ -287748,6 +345760,12 @@ neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities + + + + NEDDSBA + + @@ -287771,6 +345789,12 @@ pontocerebellar hypoplasia, type 10 pontocerebellar hypoplasia, type 10 + + + + PCH10 + + @@ -287782,6 +345806,12 @@ seckel syndrome 8 seckel syndrome 8 + + + + SCKL8 + + @@ -287793,6 +345823,12 @@ pontocerebellar hypoplasia, type 9 pontocerebellar hypoplasia, type 9 + + + + PCH9 + + @@ -287817,6 +345853,12 @@ central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease abdominal obesity-metabolic syndrome 3 + + + + AOMS3 + + @@ -287842,6 +345884,12 @@ immunodeficiency-vasculitis-myoclonus syndrome immunodeficiency 23 + + + + IMD23 + + @@ -287866,6 +345914,12 @@ mental retardation, autosomal recessive 43 intellectual developmental disorder, autosomal recessive 43 + + + + MRT43 + + @@ -287890,6 +345944,12 @@ DCAF8 + + + + DCAF8 + + @@ -287900,6 +345960,12 @@ cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis + + + + DCWHKTA + + @@ -287923,6 +345989,12 @@ mitochondrial complex 3 deficiency, nuclear type 7 mitochondrial complex 3 deficiency, nuclear type 7 + + + + MC3DN7 + + @@ -287936,6 +346008,12 @@ vulto-van silfhout-de vries syndrome vulto-van silfhout-de vries syndrome + + + + VSVS + + @@ -287959,6 +346037,12 @@ xia-gibbs syndrome xia-gibbs syndrome + + + + XIGIS + + @@ -287980,6 +346064,12 @@ This term has one or more labels that end with ', INCLUDED'. pigmented nodular adrenocortical disease, primary, 4 + + + + PPNAD4 + + @@ -288004,6 +346094,12 @@ LYRM7 + + + + LYRM7 + + @@ -288028,6 +346124,12 @@ epileptic encephalopathy, early infantile, 21 developmental and epileptic encephalopathy 21 + + + + DEE21 + + @@ -288052,6 +346154,12 @@ mental retardation, autosomal dominant 26 intellectual developmental disorder, autosomal dominant 26 + + + + MRD26 + + @@ -288084,6 +346192,12 @@ deafness, autosomal recessive 101 deafness, autosomal recessive 101 + + + + DFNB101 + + @@ -288107,6 +346221,12 @@ mitochondrial complex 3 deficiency, nuclear type 8 mitochondrial complex 3 deficiency, nuclear type 8 + + + + MC3DN8 + + @@ -288130,6 +346250,12 @@ spermatogenic failure 13 spermatogenic failure 13 + + + + SPGF13 + + @@ -288153,6 +346279,12 @@ spermatogenic failure 14 spermatogenic failure 14 + + + + SPGF14 + + @@ -288179,6 +346311,12 @@ DEGS1 + + + + DEGS1 + + @@ -288204,6 +346342,12 @@ TKFC + + + + TKFC + + @@ -288215,6 +346359,12 @@ aicardi-goutieres syndrome 7 aicardi-goutieres syndrome 7 + + + + AGS7 + + @@ -288240,6 +346390,12 @@ CEP83 + + + + CEP83 + + @@ -288254,6 +346410,12 @@ tumor predisposition syndrome 3 tumor predisposition syndrome 3 + + + + TPDS3 + + @@ -288265,6 +346427,12 @@ pallister-hall syndrome 2, formerly culler-jones syndrome + + + + CJS + + @@ -288290,6 +346458,12 @@ VPS53 + + + + VPS53 + + @@ -288313,6 +346487,12 @@ pontocerebellar hypoplasia, type 2e pontocerebellar hypoplasia, type 2e + + + + PCH2E + + @@ -288337,6 +346517,12 @@ epileptic encephalopathy, early infantile, 23 developmental and epileptic encephalopathy 23 + + + + DEE23 + + @@ -288360,6 +346546,12 @@ cone-rod dystrophy 19 cone-rod dystrophy 19 + + + + CORD19 + + @@ -288383,6 +346575,12 @@ nephrotic syndrome, type 10 nephrotic syndrome, type 10 + + + + NPHS10 + + @@ -288406,6 +346604,12 @@ nephronophthisis 18 nephronophthisis 18 + + + + NPHP18 + + @@ -288429,6 +346633,12 @@ diarrhea 7, protein-losing enteropathy type diarrhea 7, protein-losing enteropathy type + + + + DIAR7 + + @@ -288454,6 +346664,12 @@ mental retardation, autosomal dominant 27 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism + + + + IDDMOH + + @@ -288480,6 +346696,12 @@ IFT27 + + + + IFT27 + + @@ -288492,6 +346714,12 @@ epileptic encephalopathy, early infantile, 24 developmental and epileptic encephalopathy 24 + + + + DEE24 + + @@ -288516,6 +346744,12 @@ ciliary dyskinesia, primary, 29, without situs inversus ciliary dyskinesia, primary, 29 + + + + CILD29 + + @@ -288539,6 +346773,12 @@ mental retardation, autosomal dominant 28, formerly helsmoortel-van der aa syndrome + + + + HVDAS + + @@ -288565,6 +346805,12 @@ RSPH3 + + + + RSPH3 + + @@ -288590,6 +346836,12 @@ microphthalmia/coloboma and skeletal dysplasia syndrome microphthalmia/coloboma and skeletal dysplasia syndrome + + + + MCSKS + + @@ -288601,6 +346853,12 @@ cholestasis, progressive familial intrahepatic, 4 cholestasis, progressive familial intrahepatic, 4 + + + + PFIC4 + + @@ -288611,6 +346869,12 @@ tatton-brown-rahman syndrome tatton-brown-rahman syndrome + + + + TBRS + + @@ -288633,6 +346897,12 @@ plasma triglyceride level quantitative trait locus plasma triglyceride level quantitative trait locus + + + + TGQTL + + @@ -288644,6 +346914,12 @@ myopathy, tubular aggregate, 2 myopathy, tubular aggregate, 2 + + + + TAM2 + + @@ -288667,6 +346943,12 @@ hypotrichosis 12 hypotrichosis 12 + + + + HYPT12 + + @@ -288678,6 +346960,12 @@ amelogenesis imperfecta, hypomaturation type, iia5 amelogenesis imperfecta, hypomaturation type, iia5 + + + + AI2A5 + + @@ -288701,6 +346989,12 @@ bleeding disorder, platelet-type, 18 bleeding disorder, platelet-type, 18 + + + + BDPLT18 + + @@ -288711,6 +347005,12 @@ leukoencephalopathy, progressive, with ovarian failure leukoencephalopathy, progressive, with ovarian failure + + + + LKENP + + @@ -288728,6 +347028,12 @@ orofacial cleft 14 orofacial cleft 14 + + + + OFC14 + + @@ -288751,6 +347057,12 @@ ZNF407 + + + + ZNF407 + + @@ -288775,6 +347087,12 @@ polyglucosan body myopathy, early-onset, with or without immunodeficiency polyglucosan body myopathy 1 with or without immunodeficiency + + + + PGBM1 + + @@ -288799,6 +347117,12 @@ hypotrichosis with woolly hair hypotrichosis 13 + + + + HYPT13 + + @@ -288822,6 +347146,12 @@ immunodeficiency 24 immunodeficiency 24 + + + + IMD24 + + @@ -288846,6 +347176,12 @@ AGBL5 + + + + AGBL5 + + @@ -288875,6 +347211,12 @@ protein phosphatase 2, regulatory subunit b-double prime, gamma PPP2R3C + + + + PPP2R3C + + @@ -288909,6 +347251,12 @@ coiled-coil-helix-coiled-coil-helix domain-containing protein 10 CHCHD10 + + + + CHCHD10 + + @@ -288933,6 +347281,12 @@ epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta developmental and epileptic encephalopathy 25 with amelogenesis imperfecta + + + + DEE25 + + @@ -288957,6 +347311,12 @@ lymphedema, hereditary, id, formerly lymphatic malformation 4 + + + + LMPHM4 + + @@ -288980,6 +347340,12 @@ diamond-blackfan anemia 13 diamond-blackfan anemia 13 + + + + DBA13 + + @@ -289005,6 +347371,12 @@ NAXD + + + + NAXD + + @@ -289017,6 +347389,12 @@ frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 + + + + FTDALS2 + + @@ -289028,6 +347406,12 @@ cardiomyopathy, dilated, 1nn cardiomyopathy, dilated, 1nn + + + + CMD1NN + + @@ -289051,6 +347435,12 @@ combined oxidative phosphorylation deficiency 20 combined oxidative phosphorylation deficiency 20 + + + + COXPD20 + + @@ -289074,6 +347464,12 @@ combined oxidative phosphorylation deficiency 21 combined oxidative phosphorylation deficiency 21 + + + + COXPD21 + + @@ -289097,6 +347493,12 @@ ataxia-telangiectasia-like disorder 2 ataxia-telangiectasia-like disorder 2 + + + + ATLD2 + + @@ -289120,6 +347522,12 @@ retinitis pigmentosa 70 retinitis pigmentosa 70 + + + + RP70 + + @@ -289130,6 +347538,12 @@ epiphyseal chondrodysplasia, miura type epiphyseal chondrodysplasia, miura type + + + + ECDM + + @@ -289140,6 +347554,12 @@ encephalopathy, progressive, with or without lipodystrophy encephalopathy, progressive, with or without lipodystrophy + + + + PELD + + @@ -289162,6 +347582,12 @@ growth hormone deficiency, isolated partial growth hormone deficiency, isolated partial + + + + GHDP + + @@ -289185,6 +347611,12 @@ webb-dattani syndrome webb-dattani syndrome + + + + WEDAS + + @@ -289209,6 +347641,12 @@ ANKRD17 + + + + ANKRD17 + + @@ -289232,6 +347670,12 @@ sting-associated vasculopathy, infantile-onset sting-associated vasculopathy, infantile-onset + + + + SAVI + + @@ -289244,6 +347688,12 @@ pancreatic hypoplasia, congenital 2 pancreatic agenesis 2 + + + + PAGEN2 + + @@ -289267,6 +347717,12 @@ megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 + + + + MPPH2 + + @@ -289290,6 +347746,12 @@ megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 + + + + MPPH3 + + @@ -289314,6 +347776,12 @@ mental retardation, autosomal recessive 44 intellectual developmental disorder, autosomal recessive 44 + + + + MRT44 + + @@ -289337,6 +347805,12 @@ C2CD3 + + + + C2CD3 + + @@ -289360,6 +347834,12 @@ spinocerebellar ataxia 37 spinocerebellar ataxia 37 + + + + SCA37 + + @@ -289383,6 +347863,12 @@ myopia 24, autosomal dominant myopia 24, autosomal dominant + + + + MYP24 + + @@ -289427,6 +347913,12 @@ orofaciodigital syndrome 14 orofaciodigital syndrome 14 + + + + OFD14 + + @@ -289450,6 +347942,12 @@ TMEM98 + + + + TMEM98 + + @@ -289480,6 +347978,12 @@ SPEG + + + + SPEG + + @@ -289509,6 +348013,12 @@ zinc finger swim domain-containing protein 6 ZSWIM6 + + + + ZSWIM6 + + @@ -289520,6 +348030,12 @@ autoimmune disease, multisystem, infantile-onset, 1 autoimmune disease, multisystem, infantile-onset, 1 + + + + ADMIO1 + + @@ -289564,6 +348080,12 @@ primary macronodular adrenal hyperplasia acth-independent macronodular adrenal hyperplasia 2 + + + + AIMAH2 + + @@ -289588,6 +348110,12 @@ ODAD3 + + + + ODAD3 + + @@ -289611,6 +348139,12 @@ spinocerebellar ataxia 38 spinocerebellar ataxia 38 + + + + SCA38 + + @@ -289634,6 +348168,12 @@ myopathy, centronuclear, 5 myopathy, centronuclear, 5 + + + + CNM5 + + @@ -289656,6 +348196,12 @@ poretti-boltshauser syndrome poretti-boltshauser syndrome + + + + PTBHS + + @@ -289678,6 +348224,12 @@ acid-labile subunit deficiency acid-labile subunit deficiency + + + + ACLSD + + @@ -289705,6 +348257,12 @@ grl deficiency glucocorticoid resistance, generalized + + + + GCCR + + @@ -289716,6 +348274,12 @@ vesicoureteral reflux 8 vesicoureteral reflux 8 + + + + VUR8 + + @@ -289739,6 +348303,12 @@ immunodeficiency 26 with or without neurologic abnormalities immunodeficiency 26 with or without neurologic abnormalities + + + + IMD26 + + @@ -289749,6 +348319,12 @@ alpha-fetoprotein deficiency alpha-fetoprotein deficiency + + + + AFPD + + @@ -289759,6 +348335,12 @@ alpha-fetoprotein, hereditary persistence of alpha-fetoprotein, hereditary persistence of + + + + HPAFP + + @@ -289793,6 +348375,12 @@ nanophthalmos 4 nanophthalmos 4 + + + + NNO4 + + @@ -289816,6 +348404,12 @@ cone-rod dystrophy 20 cone-rod dystrophy 20 + + + + CORD20 + + @@ -289839,6 +348433,12 @@ deafness, autosomal recessive 102 deafness, autosomal recessive 102 + + + + DFNB102 + + @@ -289852,6 +348452,12 @@ immunodeficiency 27b, mycobacteriosis, autosomal dominant immunodeficiency 27b + + + + IMD27B + + @@ -289875,6 +348481,12 @@ intellectual developmental disorder, autosomal recessive 45 intellectual developmental disorder, autosomal recessive 45 + + + + MRT45 + + @@ -289899,6 +348511,12 @@ lipodystrophy, familial partial, type 6 lipodystrophy, familial partial, type 6 + + + + FPLD6 + + @@ -289910,6 +348528,12 @@ bardet-biedl syndrome 2 bardet-biedl syndrome 2 + + + + BBS2 + + @@ -289933,6 +348557,12 @@ bardet-biedl syndrome 4 bardet-biedl syndrome 4 + + + + BBS4 + + @@ -289956,6 +348586,12 @@ bardet-biedl syndrome 5 bardet-biedl syndrome 5 + + + + BBS5 + + @@ -289979,6 +348615,12 @@ bardet-biedl syndrome 7 bardet-biedl syndrome 7 + + + + BBS7 + + @@ -289990,6 +348632,12 @@ bardet-biedl syndrome 8 bardet-biedl syndrome 8 + + + + BBS8 + + @@ -290013,6 +348661,12 @@ bardet-biedl syndrome 9 bardet-biedl syndrome 9 + + + + BBS9 + + @@ -290036,6 +348690,12 @@ bardet-biedl syndrome 10 bardet-biedl syndrome 10 + + + + BBS10 + + @@ -290047,6 +348707,12 @@ bardet-biedl syndrome 11 bardet-biedl syndrome 11 + + + + BBS11 + + @@ -290070,6 +348736,12 @@ bardet-biedl syndrome 12 bardet-biedl syndrome 12 + + + + BBS12 + + @@ -290081,6 +348753,12 @@ bardet-biedl syndrome 13 bardet-biedl syndrome 13 + + + + BBS13 + + @@ -290092,6 +348770,12 @@ bardet-biedl syndrome 14 bardet-biedl syndrome 14 + + + + BBS14 + + @@ -290103,6 +348787,12 @@ bardet-biedl syndrome 15 bardet-biedl syndrome 15 + + + + BBS15 + + @@ -290114,6 +348804,12 @@ bardet-biedl syndrome 16 bardet-biedl syndrome 16 + + + + BBS16 + + @@ -290137,6 +348833,12 @@ bardet-biedl syndrome 17 bardet-biedl syndrome 17 + + + + BBS17 + + @@ -290160,6 +348862,12 @@ bardet-biedl syndrome 18 bardet-biedl syndrome 18 + + + + BBS18 + + @@ -290183,6 +348891,12 @@ bardet-biedl syndrome 19 bardet-biedl syndrome 19 + + + + BBS19 + + @@ -290197,6 +348911,12 @@ This term has one or more labels that end with ', INCLUDED'. hyperthyroxinemia, familial dysalbuminemic + + + + FDAH + + @@ -290207,6 +348927,12 @@ analbuminemia analbuminemia + + + + ANALBA + + @@ -290230,6 +348956,12 @@ breasts and/or nipples, aplasia or hypoplasia of, 2 breasts and/or nipples, aplasia or hypoplasia of, 2 + + + + BNAH2 + + @@ -290242,6 +348974,12 @@ glomerulosclerosis, focal segmental, 7 focal segmental glomerulosclerosis 7 + + + + FSGS7 + + @@ -290266,6 +349004,12 @@ APOPT1 + + + + APOPT1 + + @@ -290288,6 +349032,12 @@ immunodeficiency 36 with lymphoproliferation immunodeficiency 36 with lymphoproliferation + + + + IMD36 + + @@ -290299,6 +349049,12 @@ hennekam lymphangiectasia-lymphedema syndrome 2 hennekam lymphangiectasia-lymphedema syndrome 2 + + + + HKLLS2 + + @@ -290321,6 +349077,12 @@ cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia + + + + CAGSSS + + @@ -290345,6 +349107,12 @@ JAGN1 + + + + JAGN1 + + @@ -290370,6 +349138,12 @@ TRMT10A + + + + TRMT10A + + @@ -290403,6 +349177,12 @@ neutropenia, severe congenital, 6, autosomal recessive neutropenia, severe congenital, 6, autosomal recessive + + + + SCN6 + + @@ -290429,6 +349209,12 @@ SCAF4 + + + + SCAF4 + + @@ -290453,6 +349239,12 @@ hyperphosphatasia with mental retardation syndrome 5 glycosylphosphatidylinositol biosynthesis defect 11 + + + + GPIBD11 + + @@ -290465,6 +349257,12 @@ frts4 with mody fanconi renotubular syndrome 4 with maturity-onset diabetes of the young + + + + FRTS4 + + @@ -290488,6 +349286,12 @@ ANLN + + + + ANLN + + @@ -290499,6 +349303,12 @@ adams-oliver syndrome 5 adams-oliver syndrome 5 + + + + AOS5 + + @@ -290509,6 +349319,12 @@ ectodermal dysplasia/short stature syndrome ectodermal dysplasia/short stature syndrome + + + + ECTDS + + @@ -290532,6 +349348,12 @@ hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia + + + + HH22 + + @@ -290556,6 +349378,12 @@ glomerulosclerosis, focal segmental, 8 focal segmental glomerulosclerosis 8 + + + + FSGS8 + + @@ -290580,6 +349408,12 @@ mssgm microcephaly, short stature, and impaired glucose metabolism 1 + + + + MSSGM1 + + @@ -290602,6 +349436,12 @@ DECRD 2,4-dienoyl-coa reductase deficiency + + + + DECRD + + @@ -290626,6 +349466,12 @@ ciliary dyskinesia, primary, 30, with or without situs inversus ciliary dyskinesia, primary, 30 + + + + CILD30 + + @@ -290637,6 +349483,12 @@ neu-laxova syndrome 2 neu-laxova syndrome 2 + + + + NLS2 + + @@ -290660,6 +349512,12 @@ charcot-marie-tooth disease, recessive intermediate d charcot-marie-tooth disease, recessive intermediate d + + + + CMTRID + + @@ -290671,6 +349529,12 @@ myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant + + + + CMS7A + + @@ -290694,6 +349558,12 @@ deafness, autosomal recessive 103 deafness, autosomal recessive 103 + + + + DFNB103 + + @@ -290705,6 +349575,12 @@ deafness, autosomal dominant 65 deafness, autosomal dominant 65 + + + + DFNA65 + + @@ -290716,6 +349592,12 @@ combined oxidative phosphorylation deficiency 22 combined oxidative phosphorylation deficiency 22 + + + + COXPD22 + + @@ -290726,6 +349608,12 @@ autoinflammation with infantile enterocolitis autoinflammation with infantile enterocolitis + + + + AIFEC + + @@ -290749,6 +349637,12 @@ microcephaly 13, primary, autosomal recessive microcephaly 13, primary, autosomal recessive + + + + MCPH13 + + @@ -290763,6 +349657,12 @@ muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 + + + + MDDGC7 + + @@ -290774,6 +349674,12 @@ spinocerebellar ataxia 40 spinocerebellar ataxia 40 + + + + SCA40 + + @@ -290798,6 +349704,12 @@ ELP2 + + + + ELP2 + + @@ -290815,6 +349727,12 @@ episodic ataxia, type 8 episodic ataxia, type 8 + + + + EA8 + + @@ -290839,6 +349757,12 @@ epileptic encephalopathy, early infantile, 26 developmental and epileptic encephalopathy 26 + + + + DEE26 + + @@ -290862,6 +349786,12 @@ mirror movements 3 mirror movements 3 + + + + MRMV3 + + @@ -290885,6 +349815,12 @@ dombrock blood group system blood group, dombrock system + + + + DO + + @@ -290910,6 +349846,12 @@ ANKLE2 + + + + ANKLE2 + + @@ -290933,6 +349875,12 @@ porokeratosis 8, disseminated superficial actinic type porokeratosis 8, disseminated superficial actinic type + + + + POROK8 + + @@ -290945,6 +349893,12 @@ SRXY9 46,xy sex reversal 9 + + + + SRXY9 + + @@ -290956,6 +349910,12 @@ neonatal nephrocutaneous inflammatory syndrome neonatal nephrocutaneous inflammatory syndrome + + + + NNCIS + + @@ -290968,6 +349928,12 @@ mental retardation, autosomal dominant 29 intellectual developmental disorder, autosomal dominant 29 + + + + MRD29 + + @@ -290978,6 +349944,12 @@ retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities + + + + RDGCA + + @@ -291001,6 +349973,12 @@ microcephaly 12, primary, autosomal recessive microcephaly 12, primary, autosomal recessive + + + + MCPH12 + + @@ -291025,6 +350003,12 @@ pontocerebellar hypoplasia, type 1c pontocerebellar hypoplasia, type 1c + + + + PCH1C + + @@ -291047,6 +350031,12 @@ chromosome 12 open reading frame 4 C12ORF4 + + + + C12ORF4 + + @@ -291071,6 +350061,12 @@ mental retardation, autosomal dominant 30 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities + + + + MRD30 + + @@ -291081,6 +350077,12 @@ sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay + + + + SIFD + + @@ -291108,6 +350110,12 @@ SPRTN + + + + SPRTN + + @@ -291131,6 +350139,12 @@ type 2 diabetes 5 type 2 diabetes 5 + + + + T2D5 + + @@ -291142,6 +350156,12 @@ gerbich blood group system blood group, gerbich system + + + + GE + + @@ -291176,6 +350196,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 + + + + MDDGC12 + + @@ -291186,6 +350212,12 @@ monocarboxylate transporter 1 deficiency monocarboxylate transporter 1 deficiency + + + + MCT1D + + @@ -291210,6 +350242,12 @@ UQCC3 + + + + UQCC3 + + @@ -291221,6 +350259,12 @@ immunodeficiency 37 immunodeficiency 37 + + + + IMD37 + + @@ -291231,6 +350275,12 @@ palmoplantar keratoderma and woolly hair palmoplantar keratoderma and woolly hair + + + + PPKWH + + @@ -291243,6 +350293,12 @@ immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation + + + + IDAIL + + @@ -291267,6 +350323,12 @@ TMEM240 + + + + TMEM240 + + @@ -291290,6 +350352,12 @@ SNX14 + + + + SNX14 + + @@ -291313,6 +350381,12 @@ psoriasis 15, pustular, susceptibility to psoriasis 15, pustular, susceptibility to + + + + PSORS15 + + @@ -291342,6 +350416,12 @@ male sterility domain-containing protein 2 FAR1 + + + + FAR1 + + @@ -291364,6 +350444,12 @@ retinal dystrophy, juvenile cataracts, and short stature syndrome retinal dystrophy, juvenile cataracts, and short stature syndrome + + + + RDJCSS + + @@ -291392,6 +350478,12 @@ This term has one or more labels that end with ', INCLUDED'. TOP6BL + + + + TOP6BL + + @@ -291415,6 +350507,12 @@ mitochondrial complex 3 deficiency, nuclear type 9 mitochondrial complex 3 deficiency, nuclear type 9 + + + + MC3DN9 + + @@ -291438,6 +350536,12 @@ LMOD3 + + + + LMOD3 + + @@ -291448,6 +350552,12 @@ polyendocrine-polyneuropathy syndrome polyendocrine-polyneuropathy syndrome + + + + PEPNS + + @@ -291459,6 +350569,12 @@ familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome 4 + + + + FCAS4 + + @@ -291483,6 +350599,12 @@ mental retardation, autosomal recessive 46 intellectual developmental disorder, autosomal recessive 46 + + + + MRT46 + + @@ -291505,6 +350627,12 @@ cardiac conduction disease with or without dilated cardiomyopathy cardiac conduction disease with or without dilated cardiomyopathy + + + + CCDD + + @@ -291515,6 +350643,12 @@ macular degeneration, early-onset macular degeneration, early-onset + + + + EOMD + + @@ -291540,6 +350674,12 @@ CWF19L1 + + + + CWF19L1 + + @@ -291551,6 +350691,12 @@ very large inducible gtpase 1 gtpase, very large interferon-inducible, pseudogene 1 + + + + GVINP1 + + @@ -291576,6 +350722,12 @@ isg15 deficiency, autosomal recessive immunodeficiency 38 with basal ganglia calcification + + + + IMD38 + + @@ -291599,6 +350751,12 @@ spinocerebellar ataxia, autosomal recessive 17 spinocerebellar ataxia, autosomal recessive 17 + + + + SCAR17 + + @@ -291622,6 +350780,12 @@ RNF220 + + + + RNF220 + + @@ -291633,6 +350797,12 @@ perrault syndrome 5 perrault syndrome 5 + + + + PRLTS5 + + @@ -291645,6 +350815,12 @@ epileptic encephalopathy, early infantile, 27 developmental and epileptic encephalopathy 27 + + + + DEE27 + + @@ -291668,6 +350844,12 @@ leukodystrophy, hypomyelinating, 9 leukodystrophy, hypomyelinating, 9 + + + + HLD9 + + @@ -291692,6 +350874,12 @@ WDR73 + + + + WDR73 + + @@ -291719,6 +350907,12 @@ pierre robin syndrome with hyperphalangy and clinodactyly catel-manzke syndrome + + + + CATMANS + + @@ -291744,6 +350938,12 @@ TGDS + + + + TGDS + + @@ -291768,6 +350968,12 @@ SLC25A36 + + + + SLC25A36 + + @@ -291779,6 +350985,12 @@ macular dystrophy, vitelliform, 4 macular dystrophy, vitelliform, 4 + + + + VMD4 + + @@ -291790,6 +351002,12 @@ macular dystrophy, vitelliform, 5 macular dystrophy, vitelliform, 5 + + + + VMD5 + + @@ -291800,6 +351018,12 @@ peroxisomal fatty acyl-coa reductase 1 disorder peroxisomal fatty acyl-coa reductase 1 disorder + + + + PFCRD + + @@ -291813,6 +351037,12 @@ charcot-marie-tooth neuropathy, type 2s charcot-marie-tooth disease, axonal, type 2s + + + + CMT2S + + @@ -291836,6 +351066,12 @@ neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties + + + + NEDRIHF + + @@ -291859,6 +351095,12 @@ nemaline myopathy 10 nemaline myopathy 10 + + + + NEM10 + + @@ -291883,6 +351125,12 @@ aortic aneurysm, thoracic, with or without aortic dissection aortic aneurysm, familial thoracic 9 + + + + AAT9 + + @@ -291893,6 +351141,12 @@ macular dystrophy with central cone involvement macular dystrophy with central cone involvement + + + + CCMD + + @@ -291916,6 +351170,12 @@ microcephaly and chorioretinopathy, autosomal recessive, 2 microcephaly and chorioretinopathy, autosomal recessive, 2 + + + + MCCRP2 + + @@ -291940,6 +351200,12 @@ generalized epilepsy with febrile seizures plus, type 9 generalized epilepsy with febrile seizures plus, type 9 + + + + GEFSP9 + + @@ -291965,6 +351231,12 @@ NSRP1 + + + + NSRP1 + + @@ -291989,6 +351261,12 @@ CKAP2L + + + + CKAP2L + + @@ -292012,6 +351290,12 @@ bleeding disorder, platelet-type, 19 bleeding disorder, platelet-type, 19 + + + + BDPLT19 + + @@ -292038,6 +351322,12 @@ DDRGK1 + + + + DDRGK1 + + @@ -292061,6 +351351,12 @@ TMEM132E + + + + TMEM132E + + @@ -292106,6 +351402,12 @@ transmembrane protein 107 TMEM107 + + + + TMEM107 + + @@ -292129,6 +351431,12 @@ ovarian dysgenesis 4 ovarian dysgenesis 4 + + + + ODG4 + + @@ -292187,6 +351495,12 @@ epilepsy, progressive myoclonic 7 epilepsy, progressive myoclonic 7 + + + + EPM7 + + @@ -292209,6 +351523,12 @@ retinal dystrophy and obesity retinal dystrophy and obesity + + + + RDOB + + @@ -292231,6 +351551,12 @@ ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus + + + + ACPHD + + @@ -292255,6 +351581,12 @@ mental retardation, autosomal recessive 47 intellectual developmental disorder, autosomal recessive 47 + + + + MRT47 + + @@ -292278,6 +351610,12 @@ combined oxidative phosphorylation deficiency 23 combined oxidative phosphorylation deficiency 23 + + + + COXPD23 + + @@ -292289,6 +351627,12 @@ polyglucosan body myopathy 2 polyglucosan body myopathy 2 + + + + PGBM2 + + @@ -292311,6 +351655,12 @@ ruijs-aalfs syndrome ruijs-aalfs syndrome + + + + RJALS + + @@ -292333,6 +351683,12 @@ chronic atrial and intestinal dysrhythmia chronic atrial and intestinal dysrhythmia + + + + CAID + + @@ -292356,6 +351712,12 @@ cerebellofaciodental syndrome cerebellofaciodental syndrome + + + + CFDS + + @@ -292379,6 +351741,12 @@ spinocerebellar ataxia, autosomal recessive 18 spinocerebellar ataxia, autosomal recessive 18 + + + + SCAR18 + + @@ -292402,6 +351770,12 @@ amyotrophic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22 with or without frontotemporal dementia + + + + ALS22 + + @@ -292412,6 +351786,12 @@ myopathy, isolated mitochondrial, autosomal dominant myopathy, isolated mitochondrial, autosomal dominant + + + + IMMD + + @@ -292424,6 +351804,12 @@ epileptic encephalopathy, early infantile, 28 developmental and epileptic encephalopathy 28 + + + + DEE28 + + @@ -292447,6 +351833,12 @@ lissencephaly 6 with microcephaly lissencephaly 6 with microcephaly + + + + LIS6 + + @@ -292473,6 +351865,12 @@ ZNF292 + + + + ZNF292 + + @@ -292506,6 +351904,12 @@ CREB3L1 + + + + CREB3L1 + + @@ -292519,6 +351923,12 @@ thrombocytopenia, autosomal dominant, 5 thrombocytopenia 5 + + + + THC5 + + @@ -292530,6 +351940,12 @@ nephronophthisis 19 nephronophthisis 19 + + + + NPHP19 + + @@ -292553,6 +351969,12 @@ fibrosis of extraocular muscles, congenital, 5 fibrosis of extraocular muscles, congenital, 5 + + + + CFEOM5 + + @@ -292565,6 +351987,12 @@ glomerulosclerosis, focal segmental, 9 focal segmental glomerulosclerosis 9 + + + + FSGS9 + + @@ -292588,6 +352016,12 @@ amelogenesis imperfecta, type 1h amelogenesis imperfecta, type 1h + + + + AI1H + + @@ -292628,6 +352062,12 @@ prepl deficiency myasthenic syndrome, congenital, 22 + + + + CMS22 + + @@ -292640,6 +352080,12 @@ myasthenic syndrome, congenital, without tubular aggregates myasthenic syndrome, congenital, 15 + + + + CMS15 + + @@ -292653,6 +352099,12 @@ myasthenic syndrome, congenital, with tubular aggregates 3 myasthenic syndrome, congenital, 14 + + + + CMS14 + + @@ -292679,6 +352131,12 @@ This term has one or more labels that end with ', INCLUDED'. osteogenesis imperfecta, type 16 + + + + OI16 + + @@ -292702,6 +352160,12 @@ epilepsy, progressive myoclonic, 8 epilepsy, progressive myoclonic, 8 + + + + EPM8 + + @@ -292724,6 +352188,12 @@ myopathy, vacuolar, with casq1 aggregates myopathy, vacuolar, with casq1 aggregates + + + + VMCQA + + @@ -292744,6 +352214,12 @@ combined oxidative phosphorylation deficiency 24 combined oxidative phosphorylation deficiency 24 + + + + COXPD24 + + @@ -292767,6 +352243,12 @@ CHCHD2 + + + + CHCHD2 + + @@ -292778,6 +352260,12 @@ long qt syndrome 14 long qt syndrome 14 + + + + LQT14 + + @@ -292801,6 +352289,12 @@ lethal congenital contracture syndrome 6 lethal congenital contracture syndrome 6 + + + + LCCS6 + + @@ -292824,6 +352318,12 @@ long qt syndrome 15 long qt syndrome 15 + + + + LQT15 + + @@ -292848,6 +352348,12 @@ GSX2 + + + + GSX2 + + @@ -292884,6 +352390,12 @@ suppressor of potassium transport defect 3 CLPB + + + + CLPB + + @@ -292894,6 +352406,12 @@ short stature with nonspecific skeletal abnormalities short stature with nonspecific skeletal abnormalities + + + + SNSK + + @@ -292905,6 +352423,12 @@ meckel syndrome 12 meckel syndrome 12 + + + + MKS12 + + @@ -292928,6 +352452,12 @@ tenorio syndrome tenorio syndrome + + + + TNORS + + @@ -292952,6 +352482,12 @@ PUS7 + + + + PUS7 + + @@ -292976,6 +352512,12 @@ neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 + + + + IMNEPD1 + + @@ -292993,6 +352535,12 @@ peeling skin syndrome 3 peeling skin syndrome 3 + + + + PSS3 + + @@ -293003,6 +352551,12 @@ congenital contractures of the limbs and face, hypotonia, and developmental delay congenital contractures of the limbs and face, hypotonia, and developmental delay + + + + CLIFAHDD + + @@ -293013,6 +352567,12 @@ ataxia-oculomotor apraxia 4 ataxia-oculomotor apraxia 4 + + + + AOA4 + + @@ -293037,6 +352597,12 @@ mental retardation, autosomal dominant 32, formerly arboleda-tham syndrome + + + + ARTHS + + @@ -293060,6 +352626,12 @@ intellectual developmental disorder, autosomal recessive 48 intellectual developmental disorder, autosomal recessive 48 + + + + MRT48 + + @@ -293084,6 +352656,12 @@ amelogenesis imperfecta, type 1f amelogenesis imperfecta, type 1f + + + + AI1F + + @@ -293097,6 +352675,12 @@ mgca7 3-methylglutaconic aciduria, type 7b + + + + MGCA7B + + @@ -293108,6 +352692,12 @@ coenzyme Q10 deficiency, primary, 7 coenzyme Q10 deficiency, primary, 7 + + + + COQ10D7 + + @@ -293130,6 +352720,12 @@ mitochondrial short-chain enoyl-coa hydratase 1 deficiency mitochondrial short-chain enoyl-coa hydratase 1 deficiency + + + + ECHS1D + + @@ -293153,6 +352749,12 @@ bile acid synthesis defect, congenital, 5 bile acid synthesis defect, congenital, 5 + + + + CBAS5 + + @@ -293164,6 +352766,12 @@ cataract 43 cataract 43 + + + + CTRCT43 + + @@ -293177,6 +352785,12 @@ charcot-marie-tooth neuropathy, type 2u charcot-marie-tooth disease, axonal, type 2u + + + + CMT2U + + @@ -293200,6 +352814,12 @@ neurodevelopmental disorder with spastic paraplegia and microcephaly neurodevelopmental disorder with spastic paraplegia and microcephaly + + + + NEDSPM + + @@ -293223,6 +352843,12 @@ spastic paraplegia 73, autosomal dominant spastic paraplegia 73, autosomal dominant + + + + SPG73 + + @@ -293246,6 +352872,12 @@ PUS3 + + + + PUS3 + + @@ -293271,6 +352903,12 @@ FLG2 + + + + FLG2 + + @@ -293282,6 +352920,12 @@ lethal congenital contracture syndrome 7 lethal congenital contracture syndrome 7 + + + + LCCS7 + + @@ -293305,6 +352949,12 @@ lethal congenital contracture syndrome 8 lethal congenital contracture syndrome 8 + + + + LCCS8 + + @@ -293316,6 +352966,12 @@ optic atrophy 9 optic atrophy 9 + + + + OPA9 + + @@ -293340,6 +352996,12 @@ spinocerebellar ataxia, autosomal recessive 19 lichtenstein-knorr syndrome + + + + LIKNS + + @@ -293363,6 +353025,12 @@ cole-carpenter syndrome 2 cole-carpenter syndrome 2 + + + + CLCRP2 + + @@ -293385,6 +353053,12 @@ peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads + + + + PLACK + + @@ -293402,6 +353076,12 @@ singleton-merten syndrome 2 singleton-merten syndrome 2 + + + + SGMRT2 + + @@ -293424,6 +353104,12 @@ lipoyltransferase 1 deficiency lipoyltransferase 1 deficiency + + + + LIPT1D + + @@ -293435,6 +353121,12 @@ short-rib thoracic dysplasia 13 with or without polydactyly short-rib thoracic dysplasia 13 with or without polydactyly + + + + SRTD13 + + @@ -293446,6 +353138,12 @@ myasthenic syndrome, congenital, 17 myasthenic syndrome, congenital, 17 + + + + CMS17 + + @@ -293470,6 +353168,12 @@ FRMD4A + + + + FRMD4A + + @@ -293481,6 +353185,12 @@ senior-loken syndrome 8 senior-loken syndrome 8 + + + + SLSN8 + + @@ -293504,6 +353214,12 @@ FRMD5 + + + + FRMD5 + + @@ -293516,6 +353232,12 @@ mental retardation, autosomal dominant 33 intellectual developmental disorder, autosomal dominant 33 + + + + MRD33 + + @@ -293546,6 +353268,12 @@ nuclear envelope transmembrane protein 25 LEMD2 + + + + LEMD2 + + @@ -293557,6 +353285,12 @@ myasthenic syndrome, congenital, 2a, slow-channel myasthenic syndrome, congenital, 2a, slow-channel + + + + CMS2A + + @@ -293568,6 +353302,12 @@ myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency + + + + CMS2C + + @@ -293579,6 +353319,12 @@ myasthenic syndrome, congenital, 3a, slow-channel myasthenic syndrome, congenital, 3a, slow-channel + + + + CMS3A + + @@ -293590,6 +353336,12 @@ myasthenic syndrome, congenital, 3b, fast-channel myasthenic syndrome, congenital, 3b, fast-channel + + + + CMS3B + + @@ -293601,6 +353353,12 @@ myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency + + + + CMS3C + + @@ -293612,6 +353370,12 @@ myasthenic syndrome, congenital, 4b, fast-channel myasthenic syndrome, congenital, 4b, fast-channel + + + + CMS4B + + @@ -293623,6 +353387,12 @@ myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency + + + + CMS9 + + @@ -293636,6 +353406,12 @@ myasthenic syndrome, congenital, ie, formerly myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency + + + + CMS11 + + @@ -293663,6 +353439,12 @@ CHAMP1 + + + + CHAMP1 + + @@ -293674,6 +353456,12 @@ mody, type 13 maturity-onset diabetes of the young, type 13 + + + + MODY13 + + @@ -293698,6 +353486,12 @@ myasthenic syndrome, congenital, 18, with intellectual disability and ataxia myasthenic syndrome, congenital, 18 + + + + CMS18 + + @@ -293721,6 +353515,12 @@ robinow syndrome, autosomal dominant 2 robinow syndrome, autosomal dominant 2 + + + + DRS2 + + @@ -293744,6 +353544,12 @@ microcephaly and chorioretinopathy, autosomal recessive, 3 microcephaly and chorioretinopathy, autosomal recessive, 3 + + + + MCCRP3 + + @@ -293756,6 +353562,12 @@ epileptic encephalopathy, early infantile, 29 developmental and epileptic encephalopathy 29 + + + + DEE29 + + @@ -293779,6 +353591,12 @@ deafness, autosomal dominant 67 deafness, autosomal dominant 67 + + + + DFNA67 + + @@ -293803,6 +353621,12 @@ epileptic encephalopathy, early infantile, 30 developmental and epileptic encephalopathy 30 + + + + DEE30 + + @@ -293826,6 +353650,12 @@ lissencephaly 7 with cerebellar hypoplasia lissencephaly 7 with cerebellar hypoplasia + + + + LIS7 + + @@ -293849,6 +353679,12 @@ immunodeficiency 39 immunodeficiency 39 + + + + IMD39 + + @@ -293862,6 +353698,12 @@ epileptic encephalopathy, early infantile, 31 developmental and epileptic encephalopathy 31a + + + + DEE31A + + @@ -293886,6 +353728,12 @@ mental retardation, autosomal dominant 34 intellectual developmental disorder, autosomal dominant 34 + + + + MRD34 + + @@ -293909,6 +353757,12 @@ ACBD6 + + + + ACBD6 + + @@ -293920,6 +353774,12 @@ dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita, autosomal recessive 6 + + + + DKCB6 + + @@ -293943,6 +353803,12 @@ spinocerebellar ataxia, autosomal recessive 20 spinocerebellar ataxia, autosomal recessive 20 + + + + SCAR20 + + @@ -293968,6 +353834,12 @@ mental retardation, autosomal dominant 35 houge-janssens syndrome 1 + + + + HJS1 + + @@ -293991,6 +353863,12 @@ deafness, autosomal dominant 40 deafness, autosomal dominant 40 + + + + DFNA40 + + @@ -294015,6 +353893,12 @@ COQ5 + + + + COQ5 + + @@ -294032,6 +353916,12 @@ parkinson disease 21 parkinson disease 21 + + + + PARK21 + + @@ -294057,6 +353947,12 @@ mental retardation, autosomal dominant 36 houge-janssens syndrome 2 + + + + HJS2 + + @@ -294081,6 +353977,12 @@ white-sutton syndrome white-sutton syndrome + + + + WHSUS + + @@ -294107,6 +354009,12 @@ SCYL2 + + + + SCYL2 + + @@ -294131,6 +354039,12 @@ epileptic encephalopathy, early infantile, 32 developmental and epileptic encephalopathy 32 + + + + DEE32 + + @@ -294141,6 +354055,12 @@ mandibulofacial dysostosis with alopecia mandibulofacial dysostosis with alopecia + + + + MFDA + + @@ -294164,6 +354084,12 @@ cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia chops syndrome + + + + CHOPS + + @@ -294196,6 +354122,12 @@ multiple mitochondrial dysfunctions syndrome 4 multiple mitochondrial dysfunctions syndrome 4 + + + + MMDS4 + + @@ -294207,6 +354139,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 + + + + PFBMFT4 + + @@ -294218,6 +354156,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 + + + + PFBMFT3 + + @@ -294241,6 +354185,12 @@ ZCCHC8 + + + + ZCCHC8 + + @@ -294264,6 +354214,12 @@ KCTD17 + + + + KCTD17 + + @@ -294275,6 +354231,12 @@ night blindness, congenital stationary, type 1g night blindness, congenital stationary, type 1g + + + + CSNB1G + + @@ -294286,6 +354248,12 @@ trichothiodystrophy 2, photosensitive trichothiodystrophy 2, photosensitive + + + + TTD2 + + @@ -294298,6 +354266,12 @@ skintp skint1-like pseudogene + + + + SKINTL + + @@ -294311,6 +354285,12 @@ psychomotor retardation, epilepsy, and language disability syndrome intellectual developmental disorder, autosomal dominant 38 + + + + MRD38 + + @@ -294322,6 +354302,12 @@ retinitis pigmentosa 71 retinitis pigmentosa 71 + + + + RP71 + + @@ -294346,6 +354332,12 @@ trichothiodystrophy, complementation group a trichothiodystrophy 3, photosensitive + + + + TTD3 + + @@ -294369,6 +354361,12 @@ dystonia 26, myoclonic dystonia 26, myoclonic + + + + DYT26 + + @@ -294380,6 +354378,12 @@ brugada syndrome 9 brugada syndrome 9 + + + + BRGDA9 + + @@ -294390,6 +354394,12 @@ palmoplantar keratoderma, nonepidermolytic, focal 2 palmoplantar keratoderma, nonepidermolytic, focal 2 + + + + FNEPPK2 + + @@ -294413,6 +354423,12 @@ microcephaly 14, primary, autosomal recessive microcephaly 14, primary, autosomal recessive + + + + MCPH14 + + @@ -294442,6 +354458,12 @@ polymerase i, rna, subunit a POLR1A + + + + POLR1A + + @@ -294465,6 +354487,12 @@ PYCR2 + + + + PYCR2 + + @@ -294475,6 +354503,12 @@ brown syndrome brown syndrome + + + + BRWNS + + @@ -294487,6 +354521,12 @@ epileptic encephalopathy, early infantile, 33 developmental and epileptic encephalopathy 33 + + + + DEE33 + + @@ -294510,6 +354550,12 @@ spinocerebellar ataxia 41 spinocerebellar ataxia 41 + + + + SCA41 + + @@ -294521,6 +354567,12 @@ dystonia 27 dystonia 27 + + + + DYT27 + + @@ -294544,6 +354596,12 @@ basal ganglia calcification, idiopathic, 6 basal ganglia calcification, idiopathic, 6 + + + + IBGC6 + + @@ -294566,6 +354624,12 @@ autoimmune interstitial lung, joint, and kidney disease autoimmune interstitial lung, joint, and kidney disease + + + + AILJK + + @@ -294589,6 +354653,12 @@ familial adenomatous polyposis 3 familial adenomatous polyposis 3 + + + + FAP3 + + @@ -294616,6 +354686,12 @@ ADGRL1 + + + + ADGRL1 + + @@ -294629,6 +354705,12 @@ hypomagnesemia, seizures, and mental retardation 1 hypomagnesemia, seizures, and impaired intellectual development 1 + + + + HOMGSMR1 + + @@ -294652,6 +354734,12 @@ leukodystrophy, hypomyelinating, 10 leukodystrophy, hypomyelinating, 10 + + + + HLD10 + + @@ -294674,6 +354762,12 @@ myoclonic-atonic epilepsy myoclonic-atonic epilepsy + + + + MAE + + @@ -294698,6 +354792,12 @@ TEFM + + + + TEFM + + @@ -294725,6 +354825,12 @@ DHX30 + + + + DHX30 + + @@ -294743,6 +354849,12 @@ chromosome 17q24 deletion syndrome 46,xy sex reversal 10 + + + + SRXY10 + + @@ -294754,6 +354866,12 @@ microphthalmia/coloboma 10 microphthalmia/coloboma 10 + + + + MCOPCB10 + + @@ -294765,6 +354883,12 @@ combined oxidative phosphorylation deficiency 25 combined oxidative phosphorylation deficiency 25 + + + + COXPD25 + + @@ -294790,6 +354914,12 @@ ARHGEF18 + + + + ARHGEF18 + + @@ -294813,6 +354943,12 @@ immunodeficiency 40 immunodeficiency 40 + + + + IMD40 + + @@ -294836,6 +354972,12 @@ fanconi anemia, complementation group t fanconi anemia, complementation group t + + + + FANCT + + @@ -294847,6 +354989,12 @@ epilepsy, familial temporal lobe, 7 epilepsy, familial temporal lobe, 7 + + + + ETL7 + + @@ -294859,6 +355007,12 @@ frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 + + + + FTDALS3 + + @@ -294871,6 +355025,12 @@ frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 + + + + FTDALS4 + + @@ -294902,6 +355062,12 @@ vesicular inhibitory amino acid transporter SLC32A1 + + + + SLC32A1 + + @@ -294927,6 +355093,12 @@ OVOL2 + + + + OVOL2 + + @@ -294950,6 +355122,12 @@ candidiasis, familial, 9 candidiasis, familial, 9 + + + + CANDF9 + + @@ -294972,6 +355150,12 @@ basel-vanagaite-smirin-yosef syndrome basel-vanagaite-smirin-yosef syndrome + + + + BVSYS + + @@ -294983,6 +355167,12 @@ spastic paraplegia 74, autosomal recessive spastic paraplegia 74, autosomal recessive + + + + SPG74 + + @@ -294993,6 +355183,12 @@ b-cell expansion with nfkb and t-cell anergy b-cell expansion with nfkb and t-cell anergy + + + + BENTA + + @@ -295021,6 +355217,12 @@ zinc finger protein 408 ZNF408 + + + + ZNF408 + + @@ -295032,6 +355234,12 @@ zimmermann-laband syndrome 2 zimmermann-laband syndrome 2 + + + + ZLS2 + + @@ -295057,6 +355265,12 @@ epileptic encephalopathy, early infantile, 50 developmental and epileptic encephalopathy 50 + + + + DEE50 + + @@ -295081,6 +355295,12 @@ PRDM12 + + + + PRDM12 + + @@ -295103,6 +355323,12 @@ al-raqad syndrome al-raqad syndrome + + + + ARS + + @@ -295127,6 +355353,12 @@ mental retardation, autosomal recessive 50 intellectual developmental disorder, autosomal recessive 50 + + + + MRT50 + + @@ -295150,6 +355382,12 @@ epilepsy, familial temporal lobe, 8 epilepsy, familial temporal lobe, 8 + + + + ETL8 + + @@ -295160,6 +355398,12 @@ acrofacial dysostosis, cincinnati type acrofacial dysostosis, cincinnati type + + + + AFDCIN + + @@ -295186,6 +355430,12 @@ VPS50 + + + + VPS50 + + @@ -295197,6 +355447,12 @@ exudative vitreoretinopathy 6 exudative vitreoretinopathy 6 + + + + EVR6 + + @@ -295208,6 +355464,12 @@ retinitis pigmentosa 72 retinitis pigmentosa 72 + + + + RP72 + + @@ -295219,6 +355481,12 @@ ullrich congenital muscular dystrophy 2 ullrich congenital muscular dystrophy 2 + + + + UCMD2 + + @@ -295233,6 +355501,12 @@ ehlers-danlos syndrome, myopathic type bethlem myopathy 2 + + + + BTHLM2 + + @@ -295258,6 +355532,12 @@ UBAP2L + + + + UBAP2L + + @@ -295282,6 +355562,12 @@ progressive external ophthalmoplegia, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 + + + + PEOB2 + + @@ -295306,6 +355592,12 @@ ciliary dyskinesia, primary, 32, without situs inversus ciliary dyskinesia, primary, 32 + + + + CILD32 + + @@ -295317,6 +355609,12 @@ saddan dysplasia achondroplasia, severe, with developmental delay and acanthosis nigricans + + + + SADDAN + + @@ -295328,6 +355626,12 @@ infantile liver failure syndrome 2 infantile liver failure syndrome 2 + + + + ILFS2 + + @@ -295352,6 +355656,12 @@ neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities + + + + NEDMISBA + + @@ -295365,6 +355675,12 @@ epidermolysis bullosa simplex with nail dystrophy epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive + + + + EBS5D + + @@ -295389,6 +355705,12 @@ neuropathy, hereditary sensory and autonomic, type 8 neuropathy, hereditary sensory and autonomic, type 8 + + + + HSAN8 + + @@ -295413,6 +355735,12 @@ silver-russell syndrome 3 silver-russell syndrome 3 + + + + SRS3 + + @@ -295424,6 +355752,12 @@ joubert syndrome 23 joubert syndrome 23 + + + + JBTS23 + + @@ -295437,6 +355771,12 @@ charcot-marie-tooth neuropathy, type 2v charcot-marie-tooth disease, axonal, type 2v + + + + CMT2V + + @@ -295449,6 +355789,12 @@ leukodystrophy, hypomyelinating, 11 leukodystrophy, hypomyelinating, 11 + + + + HLD11 + + @@ -295473,6 +355819,12 @@ mitochondrial complex 4 deficiency, nuclear type 9 mitochondrial complex 4 deficiency, nuclear type 9 + + + + MC4DN9 + + @@ -295497,6 +355849,12 @@ mitochondrial complex 4 deficiency, nuclear type 13 mitochondrial complex 4 deficiency, nuclear type 13 + + + + MC4DN13 + + @@ -295521,6 +355879,12 @@ retinal dystrophy with early macular involvement cone-rod dystrophy 21 + + + + CORD21 + + @@ -295544,6 +355908,12 @@ lethal congenital contracture syndrome 9 lethal congenital contracture syndrome 9 + + + + LCCS9 + + @@ -295556,6 +355926,12 @@ neuropathy, hereditary motor and sensory, type vib, with optic atrophy neuropathy, hereditary motor and sensory, type vib, with optic atrophy + + + + HMSN6B + + @@ -295582,6 +355958,12 @@ NDNF + + + + NDNF + + @@ -295605,6 +355987,12 @@ osteogenesis imperfecta, type 17 osteogenesis imperfecta, type 17 + + + + OI17 + + @@ -295617,6 +356005,12 @@ cataract 44 and hypotrichosis cataract 44 + + + + CTRCT44 + + @@ -295653,6 +356047,12 @@ GNPNAT1 + + + + GNPNAT1 + + @@ -295675,6 +356075,12 @@ maturity-onset diabetes of the young, type 14 maturity-onset diabetes of the young, type 14 + + + + MODY14 + + @@ -295686,6 +356092,12 @@ deafness, autosomal recessive 104 deafness, autosomal recessive 104 + + + + DFNB104 + + @@ -295697,6 +356109,12 @@ emery-dreifuss muscular dystrophy 3, autosomal recessive emery-dreifuss muscular dystrophy 3, autosomal recessive + + + + EDMD3 + + @@ -295719,6 +356137,12 @@ achromatopsia 7 achromatopsia 7 + + + + ACHM7 + + @@ -295747,6 +356171,12 @@ This term has one or more labels that end with ', INCLUDED'. intellectual developmental disorder, autosomal dominant 39 + + + + MRD39 + + @@ -295758,6 +356188,12 @@ polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities + + + + NEDSPLB + + @@ -295782,6 +356218,12 @@ herpes simplex encephalitis, susceptibility to, 5 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 + + + + IIAE7 + + @@ -295793,6 +356235,12 @@ thyroid cancer, nonmedullary, 4 thyroid cancer, nonmedullary, 4 + + + + NMTC4 + + @@ -295804,6 +356252,12 @@ thyroid cancer, nonmedullary, 5 thyroid cancer, nonmedullary, 5 + + + + NMTC5 + + @@ -295816,6 +356270,12 @@ walker-warburg syndrome or muscle-eye brain disease, dag1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 + + + + MDDGA9 + + @@ -295840,6 +356300,12 @@ peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay + + + + PNSED + + @@ -295851,6 +356317,12 @@ epilepsy, progressive myoclonic, 9 epilepsy, progressive myoclonic, 9 + + + + EPM9 + + @@ -295873,6 +356345,12 @@ short stature, microcephaly, and endocrine dysfunction short stature, microcephaly, and endocrine dysfunction + + + + SSMED + + @@ -295884,6 +356362,12 @@ retinitis pigmentosa 73 retinitis pigmentosa 73 + + + + RP73 + + @@ -295895,6 +356379,12 @@ short-rib thoracic dysplasia 14 with polydactyly short-rib thoracic dysplasia 14 with polydactyly + + + + SRTD14 + + @@ -295918,6 +356408,12 @@ klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism + + + + KFS4 + + @@ -295931,6 +356427,12 @@ This term has one or more labels that end with ', INCLUDED'. dyskeratosis congenita, autosomal dominant 6 + + + + DKCA6 + + @@ -295955,6 +356457,12 @@ SPAG17 + + + + SPAG17 + + @@ -295978,6 +356486,12 @@ noonan syndrome 9 noonan syndrome 9 + + + + NS9 + + @@ -295989,6 +356503,12 @@ retinitis pigmentosa 74 retinitis pigmentosa 74 + + + + RP74 + + @@ -296000,6 +356520,12 @@ noonan syndrome 10 noonan syndrome 10 + + + + NS10 + + @@ -296023,6 +356549,12 @@ spondylocostal dysostosis 6, autosomal recessive spondylocostal dysostosis 6, autosomal recessive + + + + SCDO6 + + @@ -296043,6 +356575,12 @@ cerebrooculofacioskeletal syndrome 3 cerebrooculofacioskeletal syndrome 3 + + + + COFS3 + + @@ -296067,6 +356605,12 @@ nfkb1 deficiency immunodeficiency, common variable, 12, with autoimmunity + + + + CVID12 + + @@ -296084,6 +356628,12 @@ neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities + + + + NEDHSB + + @@ -296108,6 +356658,12 @@ neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features + + + + NEDHILD + + @@ -296133,6 +356689,12 @@ okamoto syndrome au-kline syndrome + + + + AUKS + + @@ -296144,6 +356706,12 @@ spondyloepiphyseal dysplasia, stanescu type spondyloepiphyseal dysplasia, stanescu type + + + + SEDSTN + + @@ -296168,6 +356736,12 @@ RSPRY1 + + + + RSPRY1 + + @@ -296179,6 +356753,12 @@ spastic paraplegia 9b, autosomal recessive spastic paraplegia 9b, autosomal recessive + + + + SPG9B + + @@ -296202,6 +356782,12 @@ adams-oliver syndrome 6 adams-oliver syndrome 6 + + + + AOS6 + + @@ -296213,6 +356799,12 @@ skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration kosaki overgrowth syndrome + + + + KOGS + + @@ -296224,6 +356816,12 @@ craniosynostosis 6 craniosynostosis 6 + + + + CRS6 + + @@ -296235,6 +356833,12 @@ cutis laxa, autosomal dominant 3 cutis laxa, autosomal dominant 3 + + + + ADCL3 + + @@ -296289,6 +356893,12 @@ CSGALNACT1 + + + + CSGALNACT1 + + @@ -296301,6 +356911,12 @@ peroxisome biogenesis disorder 4c heimler syndrome 2 + + + + HMLR2 + + @@ -296325,6 +356941,12 @@ ACBD5 + + + + ACBD5 + + @@ -296348,6 +356970,12 @@ immunodeficiency 42 immunodeficiency 42 + + + + IMD42 + + @@ -296361,6 +356989,12 @@ charcot-marie-tooth neuropathy, type 2w charcot-marie-tooth disease, axonal, type 2w + + + + CMT2W + + @@ -296384,6 +357018,12 @@ senior-loken syndrome 9 senior-loken syndrome 9 + + + + SLSN9 + + @@ -296407,6 +357047,12 @@ porokeratosis 9, multiple types porokeratosis 9, multiple types + + + + POROK9 + + @@ -296417,6 +357063,12 @@ seizures, cortical blindness, and microcephaly syndrome seizures, cortical blindness, and microcephaly syndrome + + + + SCBMS + + @@ -296441,6 +357093,12 @@ PRR12 + + + + PRR12 + + @@ -296452,6 +357110,12 @@ immunodeficiency 44 immunodeficiency 44 + + + + IMD44 + + @@ -296465,6 +357129,12 @@ smith-kingsmore syndrome smith-kingsmore syndrome + + + + SKS + + @@ -296488,6 +357158,12 @@ PRDM8 + + + + PRDM8 + + @@ -296511,6 +357187,12 @@ epilepsy, progressive myoclonic, 10 epilepsy, progressive myoclonic, 10 + + + + EPM10 + + @@ -296523,6 +357205,12 @@ epileptic encephalopathy, early infantile, 34 developmental and epileptic encephalopathy 34 + + + + DEE34 + + @@ -296551,6 +357239,12 @@ KRT25 + + + + KRT25 + + @@ -296563,6 +357257,12 @@ epileptic encephalopathy, early infantile, 35 developmental and epileptic encephalopathy 35 + + + + DEE35 + + @@ -296580,6 +357280,12 @@ optic atrophy 8 optic atrophy 8 + + + + OPA8 + + @@ -296591,6 +357297,12 @@ spherocytosis, type 2 spherocytosis, type 2 + + + + SPH2 + + @@ -296615,6 +357327,12 @@ KATNIP + + + + KATNIP + + @@ -296626,6 +357344,12 @@ spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency roifman syndrome + + + + RFMN + + @@ -296642,6 +357366,12 @@ yuan-harel-lupski syndrome yuan-harel-lupski syndrome + + + + YUHAL + + @@ -296653,6 +357383,12 @@ joubert syndrome 24 joubert syndrome 24 + + + + JBTS24 + + @@ -296679,6 +357415,12 @@ SIPA1L3 + + + + SIPA1L3 + + @@ -296701,6 +357443,12 @@ spastic tetraplegia, thin corpus callosum, and progressive microcephaly spastic tetraplegia, thin corpus callosum, and progressive microcephaly + + + + SPATCCM + + @@ -296728,6 +357476,12 @@ MICOS13 + + + + MICOS13 + + @@ -296760,6 +357514,12 @@ zinc finger cw domain- and coiled-coil domain-containing protein 1 MORC2 + + + + MORC2 + + @@ -296784,6 +357544,12 @@ THUMPD1 + + + + THUMPD1 + + @@ -296808,6 +357574,12 @@ SNORD118 + + + + SNORD118 + + @@ -296821,6 +357593,12 @@ charcot-marie-tooth neuropathy, type 2x charcot-marie-tooth disease, axonal, type 2x + + + + CMT2X + + @@ -296832,6 +357610,12 @@ immunodeficiency 45 immunodeficiency 45 + + + + IMD45 + + @@ -296855,6 +357639,12 @@ combined oxidative phosphorylation deficiency 27 combined oxidative phosphorylation deficiency 27 + + + + COXPD27 + + @@ -296878,6 +357668,12 @@ spastic paraplegia 75, autosomal recessive spastic paraplegia 75, autosomal recessive + + + + SPG75 + + @@ -296901,6 +357697,12 @@ microcephaly 16, primary, autosomal recessive microcephaly 16, primary, autosomal recessive + + + + MCPH16 + + @@ -296911,6 +357713,12 @@ seizures, scoliosis, and macrocephaly/microcephaly syndrome seizures, scoliosis, and macrocephaly/microcephaly syndrome + + + + SSMS + + @@ -296922,6 +357730,12 @@ leukodystrophy, hypomyelinating, 12 leukodystrophy, hypomyelinating, 12 + + + + HLD12 + + @@ -296931,10 +357745,16 @@ CMT4K charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k - charcot-marie-tooth disease, type 4k + charcot-marie-tooth disease, demyelinating, type 4k charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k - charcot-marie-tooth disease, type 4k + charcot-marie-tooth disease, demyelinating, type 4k + + + + CMT4K + + @@ -296946,6 +357766,12 @@ epilepsy, idiopathic generalized, susceptibility to, 14 epilepsy, idiopathic generalized, susceptibility to, 14 + + + + EIG14 + + @@ -296959,6 +357785,12 @@ charcot-marie-tooth neuropathy, type 2y charcot-marie-tooth disease, axonal, type 2y + + + + CMT2Y + + @@ -296972,6 +357804,12 @@ charcot-marie-tooth neuropathy, type 2z charcot-marie-tooth disease, axonal, type 2z + + + + CMT2Z + + @@ -296996,6 +357834,12 @@ xerocytosis gardos dehydrated hereditary stomatocytosis 2 + + + + DHS2 + + @@ -297027,6 +357871,12 @@ kiaa0562 CEP104 + + + + CEP104 + + @@ -297039,6 +357889,12 @@ deafness, congenital, unilateral or asymmetric deafness, autosomal dominant 69 + + + + DFNA69 + + @@ -297050,6 +357906,12 @@ deafness, autosomal recessive 97 deafness, autosomal recessive 97 + + + + DFNB97 + + @@ -297073,6 +357935,12 @@ deafness, autosomal dominant 68 deafness, autosomal dominant 68 + + + + DFNA68 + + @@ -297098,6 +357966,12 @@ This term has one or more labels that end with ', INCLUDED'. desanto-shinawi syndrome + + + + DESSH + + @@ -297121,6 +357995,12 @@ parkinson disease 22, autosomal dominant parkinson disease 22, autosomal dominant + + + + PARK22 + + @@ -297145,6 +358025,12 @@ STARD7 + + + + STARD7 + + @@ -297168,6 +358054,12 @@ TMX2 + + + + TMX2 + + @@ -297179,6 +358071,12 @@ rhizomelic chondrodysplasia punctata, type 5 rhizomelic chondrodysplasia punctata, type 5 + + + + RCDP5 + + @@ -297204,6 +358102,12 @@ spinocerebellar ataxia, autosomal recessive 21, with hepatopathy spinocerebellar ataxia, autosomal recessive 21 + + + + SCAR21 + + @@ -297227,6 +358131,12 @@ myasthenic syndrome, congenital, 19 myasthenic syndrome, congenital, 19 + + + + CMS19 + + @@ -297251,6 +358161,12 @@ congenital disorder of glycosylation, type iin congenital disorder of glycosylation, type iin + + + + CDG2N + + @@ -297274,6 +358190,12 @@ retinal dystrophy and iris coloboma with or without congenital cataract retinal dystrophy and iris coloboma with or without cataract + + + + RDICC + + @@ -297297,6 +358219,12 @@ spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis spondyloepimetaphyseal dysplasia, faden-alkuraya type + + + + SEMDFA + + @@ -297308,6 +358236,12 @@ tooth agenesis, selective, 7 tooth agenesis, selective, 7 + + + + STHAG7 + + @@ -297332,6 +358266,12 @@ ciliary dyskinesia, primary, 33, without situs inversus ciliary dyskinesia, primary, 33 + + + + CILD33 + + @@ -297354,6 +358294,12 @@ cleft palate, psychomotor retardation, and distinctive facial features cleft palate, psychomotor retardation, and distinctive facial features + + + + CPRF + + @@ -297365,6 +358311,12 @@ nephrotic syndrome, type 11 nephrotic syndrome, type 11 + + + + NPHS11 + + @@ -297389,6 +358341,12 @@ optic atrophy 10 with or without ataxia, mental retardation, and seizures optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures + + + + OPA10 + + @@ -297400,6 +358358,12 @@ coenzyme Q10 deficiency, primary, 8 coenzyme Q10 deficiency, primary, 8 + + + + COQ10D8 + + @@ -297423,6 +358387,12 @@ skin creases, congenital symmetric circumferential, 2 skin creases, congenital symmetric circumferential, 2 + + + + CSCSC2 + + @@ -297469,6 +358439,12 @@ tremor, hereditary essential, 5 tremor, hereditary essential, 5 + + + + ETM5 + + @@ -297492,6 +358468,12 @@ takenouchi-kosaki syndrome takenouchi-kosaki syndrome + + + + TKS + + @@ -297515,6 +358497,12 @@ radioulnar synostosis with amegakaryocytic thrombocytopenia 2 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 + + + + RUSAT2 + + @@ -297527,6 +358515,12 @@ mental retardation, autosomal recessive 51 intellectual developmental disorder, autosomal recessive 51 + + + + MRT51 + + @@ -297550,6 +358544,12 @@ immunodeficiency 46 immunodeficiency 46 + + + + IMD46 + + @@ -297579,6 +358579,12 @@ pr domain-containing protein 13 PRDM13 + + + + PRDM13 + + @@ -297603,6 +358609,12 @@ autoinflammatory syndrome, familial, behcet-like 1 autoinflammatory syndrome, familial, behcet-like 1 + + + + AIFBL1 + + @@ -297626,6 +358638,12 @@ heterotaxy, visceral, 7, autosomal heterotaxy, visceral, 7, autosomal + + + + HTX7 + + @@ -297673,6 +358691,12 @@ spastic paraplegia and psychomotor retardation with or without seizures spastic paraplegia and psychomotor retardation with or without seizures + + + + SPPRS + + @@ -297697,6 +358721,12 @@ KDF1 + + + + KDF1 + + @@ -297720,6 +358750,12 @@ woolly hair, autosomal recessive 3, with hypotrichosis woolly hair, autosomal recessive 3 + + + + ARWH3 + + @@ -297742,6 +358778,12 @@ leukodystrophy and acquired microcephaly with or without dystonia leukodystrophy and acquired microcephaly with or without dystonia + + + + LDAMD + + @@ -297766,6 +358808,12 @@ TUBB8 + + + + TUBB8 + + @@ -297789,6 +358837,12 @@ seckel syndrome 9 seckel syndrome 9 + + + + SCKL9 + + @@ -297800,6 +358854,12 @@ cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 + + + + CADASIL2 + + @@ -297824,6 +358884,12 @@ oocyte/zygote/embryo maturation arrest 2 oocyte/zygote/embryo maturation arrest 2 + + + + OZEMA2 + + @@ -297835,6 +358901,12 @@ joubert syndrome 25 joubert syndrome 25 + + + + JBTS25 + + @@ -297858,6 +358930,12 @@ joubert syndrome 26 joubert syndrome 26 + + + + JBTS26 + + @@ -297882,6 +358960,12 @@ MAPKBP1 + + + + MAPKBP1 + + @@ -297905,6 +358989,12 @@ orofacial cleft 15 orofacial cleft 15 + + + + OFC15 + + @@ -297929,6 +359019,12 @@ mental retardation and distinctive facial features with or without cardiac defects impaired intellectual development and distinctive facial features with or without cardiac defects + + + + MRFACD + + @@ -297945,6 +359041,12 @@ neuroblastoma, susceptibility to, 7 neuroblastoma, susceptibility to, 7 + + + + NBLST7 + + @@ -297968,6 +359070,12 @@ combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency 28 + + + + COXPD28 + + @@ -297979,6 +359087,12 @@ spinocerebellar ataxia 42 spinocerebellar ataxia 42 + + + + SCA42 + + @@ -298004,6 +359118,12 @@ SYCP2L + + + + SYCP2L + + @@ -298027,6 +359147,12 @@ hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 + + + + IHPRF2 + + @@ -298049,6 +359175,12 @@ lamb-shaffer syndrome lamb-shaffer syndrome + + + + LAMSHF + + @@ -298060,6 +359192,12 @@ wilms tumor 6 wilms tumor 6 + + + + WT6 + + @@ -298085,6 +359223,12 @@ hyperphosphatasia with mental retardation syndrome 6 hyperphosphatasia with impaired intellectual development syndrome 6 + + + + HPMRS6 + + @@ -298108,6 +359252,12 @@ combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency 29 + + + + COXPD29 + + @@ -298133,6 +359283,12 @@ muscular dystrophy, limb-girdle, type 2x muscular dystrophy, limb-girdle, autosomal recessive 25 + + + + LGMDR25 + + @@ -298158,6 +359314,12 @@ prembl oocyte/zygote/embryo maturation arrest 15 + + + + OZEMA15 + + @@ -298184,6 +359346,12 @@ TMEM199 + + + + TMEM199 + + @@ -298206,6 +359374,12 @@ hypotonia, infantile, with psychomotor retardation hypotonia, infantile, with psychomotor retardation + + + + IHPMR + + @@ -298229,6 +359403,12 @@ microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism 2 + + + + MSSGM2 + + @@ -298252,6 +359432,12 @@ iga nephropathy, susceptibility to, 3 iga nephropathy, susceptibility to, 3 + + + + IGAN3 + + @@ -298275,6 +359461,12 @@ corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia + + + + CCAFCA + + @@ -298304,6 +359496,12 @@ transmembrane molecule with thrombospondin module THSD1 + + + + THSD1 + + @@ -298328,6 +359526,12 @@ muscular dystrophy, limb-girdle, type 2w muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue + + + + MDRCMTT + + @@ -298352,6 +359556,12 @@ congenital disorder of glycosylation, type iio congenital disorder of glycosylation, type iio + + + + CDG2O + + @@ -298376,6 +359586,12 @@ congenital disorder of glycosylation, type iip congenital disorder of glycosylation, type iip + + + + CDG2P + + @@ -298401,6 +359617,12 @@ TANGO2 + + + + TANGO2 + + @@ -298411,6 +359633,12 @@ luscan-lumish syndrome luscan-lumish syndrome + + + + LLS + + @@ -298434,6 +359662,12 @@ paget disease of bone 6 paget disease of bone 6 + + + + PDB6 + + @@ -298457,6 +359691,12 @@ sc4mol deficiency microcephaly, congenital cataract, and psoriasiform dermatitis + + + + MCCPD + + @@ -298480,6 +359720,12 @@ meier-gorlin syndrome 6 meier-gorlin syndrome 6 + + + + MGORS6 + + @@ -298502,6 +359748,12 @@ exercise intolerance, riboflavin-responsive exercise intolerance, riboflavin-responsive + + + + RREI + + @@ -298525,6 +359777,12 @@ parkinson disease 23, autosomal recessive early-onset parkinson disease 23, autosomal recessive early-onset + + + + PARK23 + + @@ -298553,6 +359811,12 @@ dnase1 hypersensitivity, chromosome 6, site 1 DHS6S1 + + + + DHS6S1 + + @@ -298566,6 +359830,12 @@ lymphedema, hereditary, iii, formerly lymphatic malformation 6 + + + + LMPHM6 + + @@ -298591,6 +359861,12 @@ EMC1 + + + + EMC1 + + @@ -298601,6 +359877,12 @@ brachydactyly, type a1, d brachydactyly, type a1, d + + + + BDA1D + + @@ -298624,6 +359906,12 @@ cataract 45 cataract 45 + + + + CTRCT45 + + @@ -298634,6 +359922,12 @@ myopathy, scapulohumeroperoneal myopathy, scapulohumeroperoneal + + + + SHPM + + @@ -298645,6 +359939,12 @@ even-plus syndrome even-plus syndrome + + + + EVPLS + + @@ -298656,6 +359956,12 @@ cowden syndrome 7 cowden syndrome 7 + + + + CWS7 + + @@ -298666,6 +359972,12 @@ spasticity, childhood-onset, with hyperglycinemia spasticity, childhood-onset, with hyperglycinemia + + + + SPAHGC + + @@ -298677,6 +359989,12 @@ anemia, sideroblastic, 3, pyridoxine-refractory anemia, sideroblastic, 3, pyridoxine-refractory + + + + SIDBA3 + + @@ -298702,6 +360020,12 @@ This term has one or more labels that end with ', INCLUDED'. hao-fountain syndrome + + + + HAFOUS + + @@ -298714,6 +360038,12 @@ spinal muscular atrophy, type i, with congenital bone fractures spinal muscular atrophy with congenital bone fractures 1 + + + + SMABF1 + + @@ -298725,6 +360055,12 @@ spinal muscular atrophy with congenital bone fractures 2 spinal muscular atrophy with congenital bone fractures 2 + + + + SMABF2 + + @@ -298749,6 +360085,12 @@ diarrhea, congenital sodium diarrhea 8, secretory sodium, congenital + + + + DIAR8 + + @@ -298771,6 +360113,12 @@ myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to + + + + MPLPF + + @@ -298794,6 +360142,12 @@ immunodeficiency, common variable, 13 immunodeficiency, common variable, 13 + + + + CVID13 + + @@ -298816,6 +360170,12 @@ cerebellar atrophy, visual impairment, and psychomotor retardation cerebellar atrophy, visual impairment, and psychomotor retardation + + + + CAVIPMR + + @@ -298838,6 +360198,12 @@ metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration + + + + MECRCN + + @@ -298861,6 +360227,12 @@ leukodystrophy, hypomyelinating, 13 leukodystrophy, hypomyelinating, 13 + + + + HLD13 + + @@ -298884,6 +360256,12 @@ advanced sleep phase syndrome, familial, 3 advanced sleep phase syndrome, familial, 3 + + + + FASPS3 + + @@ -298896,6 +360274,12 @@ mental retardation, autosomal recessive 52 intellectual developmental disorder, autosomal recessive 52 + + + + MRT52 + + @@ -298906,6 +360290,12 @@ split-foot malformation with mesoaxial polydactyly split-foot malformation with mesoaxial polydactyly + + + + SFMMP + + @@ -298929,6 +360319,12 @@ nephrotic syndrome, type 12 nephrotic syndrome, type 12 + + + + NPHS12 + + @@ -298952,6 +360348,12 @@ nephrotic syndrome, type 13 nephrotic syndrome, type 13 + + + + NPHS13 + + @@ -298975,6 +360377,12 @@ robinow syndrome, autosomal dominant 3 robinow syndrome, autosomal dominant 3 + + + + DRS3 + + @@ -298987,6 +360395,12 @@ mitochondrial dna depletion syndrome 14 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) + + + + MTDPS14 + + @@ -299015,6 +360429,12 @@ osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type + + + + OCLSBG + + @@ -299053,6 +360473,12 @@ TBCK + + + + TBCK + + @@ -299076,6 +360502,12 @@ hypotonia, infantile, with psychomotor retardation and characteristic facies 3 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 + + + + IHPRF3 + + @@ -299101,6 +360533,12 @@ loucks-innes syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair 1 + + + + DEDSSH1 + + @@ -299146,6 +360584,12 @@ thiopurines, poor metabolism of, 2 thiopurines, poor metabolism of, 2 + + + + THPM2 + + @@ -299169,6 +360613,12 @@ spastic paraplegia 76, autosomal recessive spastic paraplegia 76, autosomal recessive + + + + SPG76 + + @@ -299192,6 +360642,12 @@ immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome 3 + + + + ICF3 + + @@ -299215,6 +360671,12 @@ immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome 4 + + + + ICF4 + + @@ -299238,6 +360700,12 @@ bleeding disorder, platelet-type, 20 bleeding disorder, platelet-type, 20 + + + + BDPLT20 + + @@ -299251,6 +360719,12 @@ marfanoid-progeroid-lipodystrophy syndrome marfanoid-progeroid-lipodystrophy syndrome + + + + MFLS + + @@ -299274,6 +360748,12 @@ neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy + + + + NEDHSCA + + @@ -299303,6 +360783,12 @@ phosphatidylinositol glycan anchor biosynthesis class g protein PIGG + + + + PIGG + + @@ -299314,6 +360800,12 @@ neurodevelopmental disorder with heart and brain malformations heart and brain malformation syndrome + + + + HBMS + + @@ -299324,6 +360816,12 @@ dyskinesia, limb and orofacial, infantile-onset dyskinesia, limb and orofacial, infantile-onset + + + + IOLOD + + @@ -299335,6 +360833,12 @@ striatal degeneration, autosomal dominant 2 striatal degeneration, autosomal dominant 2 + + + + ADSD2 + + @@ -299347,6 +360851,44 @@ charcot-marie-tooth neuropathy, type 2cc charcot-marie-tooth disease, axonal, type 2cc + + + + CMT2CC + + + + + + + + + + + + + + + + + + + + + EXOC3L2 + exoc3-like 2 + exocyst complex component 3-like 2 + hbv x-transactivated protein 7 + hepatitis B virus 10 antigen-transactivated gene 7 + EXOC3L2 + + + + + + EXOC3L2 + + @@ -299359,6 +360901,12 @@ thrombocytopenia, autosomal dominant, 6 thrombocytopenia 6 + + + + THC6 + + @@ -299371,6 +360919,12 @@ coffin-siris syndrome 5 coffin-siris syndrome 5 + + + + CSS5 + + @@ -299393,6 +360947,12 @@ chorea, childhood-onset, with psychomotor retardation chorea, childhood-onset, with psychomotor retardation + + + + COCPMR + + @@ -299406,6 +360966,12 @@ agm8 agammaglobulinemia 8a, autosomal dominant + + + + AGM8A + + @@ -299429,6 +360995,12 @@ trichothiodystrophy 6, nonphotosensitive trichothiodystrophy 6, nonphotosensitive + + + + TTD6 + + @@ -299441,6 +361013,12 @@ mental retardation, autosomal dominant 41 intellectual developmental disorder, autosomal dominant 41 + + + + MRD41 + + @@ -299452,6 +361030,12 @@ premature ovarian failure 11 premature ovarian failure 11 + + + + POF11 + + @@ -299463,6 +361047,12 @@ premature ovarian failure 12 premature ovarian failure 12 + + + + POF12 + + @@ -299486,6 +361076,12 @@ spinocerebellar ataxia, autosomal recessive 22 spinocerebellar ataxia, autosomal recessive 22 + + + + SCAR22 + + @@ -299509,6 +361105,12 @@ spinocerebellar ataxia, autosomal recessive 23 spinocerebellar ataxia, autosomal recessive 23 + + + + SCAR23 + + @@ -299520,6 +361122,12 @@ spermatogenic failure 15 spermatogenic failure 15 + + + + SPGF15 + + @@ -299546,6 +361154,12 @@ MTSS2 + + + + MTSS2 + + @@ -299568,6 +361182,12 @@ you-hoover-fong syndrome you-hoover-fong syndrome + + + + YHFS + + @@ -299587,6 +361207,12 @@ retinitis pigmentosa and erythrocytic microcytosis retinitis pigmentosa and erythrocytic microcytosis + + + + RPEM + + @@ -299598,6 +361224,12 @@ hypercalcemia, infantile, 2 hypercalcemia, infantile, 2 + + + + HCINF2 + + @@ -299630,6 +361262,12 @@ deafness, autosomal dominant 70 deafness, autosomal dominant 70 + + + + DFNA70 + + @@ -299653,6 +361291,12 @@ deafness, autosomal dominant 66 deafness, autosomal dominant 66 + + + + DFNA66 + + @@ -299664,6 +361308,12 @@ mental retardation, autosomal dominant 42 intellectual developmental disorder, autosomal dominant 42 + + + + MRD42 + + @@ -299687,6 +361337,12 @@ combined oxidative phosphorylation deficiency 30 combined oxidative phosphorylation deficiency 30 + + + + COXPD30 + + @@ -299709,6 +361365,12 @@ neurodevelopmental disorder with or without anomalies of the brain, eye, or heart neurodevelopmental disorder with or without anomalies of the brain, eye, or heart + + + + NEDBEH + + @@ -299732,6 +361394,12 @@ intellectual developmental disorder, autosomal dominant 43 intellectual developmental disorder, autosomal dominant 43 + + + + MRD43 + + @@ -299756,6 +361424,12 @@ epileptic encephalopathy, early infantile, 37 developmental and epileptic encephalopathy 37 + + + + DEE37 + + @@ -299780,6 +361454,12 @@ PRDM6 + + + + PRDM6 + + @@ -299803,6 +361483,12 @@ craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 + + + + CFSMR2 + + @@ -299826,6 +361512,12 @@ polycystic liver disease 2 with or without kidney cysts polycystic liver disease 2 with or without kidney cysts + + + + PCLD2 + + @@ -299837,6 +361529,12 @@ autoimmune disease, multisystem, infantile-onset, 2 autoimmune disease, multisystem, infantile-onset, 2 + + + + ADMIO2 + + @@ -299860,6 +361558,12 @@ cerebral palsy, spastic quadriplegic, 3 cerebral palsy, spastic quadriplegic, 3 + + + + CPSQ3 + + @@ -299882,6 +361586,12 @@ macrocephaly, dysmorphic facies, and psychomotor retardation macrocephaly, dysmorphic facies, and psychomotor retardation + + + + MDFPMR + + @@ -299893,6 +361603,12 @@ hypermanganesemia with dystonia 2 hypermanganesemia with dystonia 2 + + + + HMNDYT2 + + @@ -299904,6 +361620,12 @@ neutropenia, severe congenital, 7, autosomal recessive neutropenia, severe congenital, 7, autosomal recessive + + + + SCN7 + + @@ -299917,6 +361639,12 @@ charcot-marie-tooth neuropathy, type 2t charcot-marie-tooth disease, axonal, type 2t + + + + CMT2T + + @@ -299928,6 +361656,12 @@ spinocerebellar ataxia 43 spinocerebellar ataxia 43 + + + + SCA43 + + @@ -299953,6 +361687,12 @@ glycosylphosphatidylinositol biosynthesis defect 23 developmental and epileptic encephalopathy 38 + + + + DEE38 + + @@ -299963,6 +361703,12 @@ hydrops, lactic acidosis, and sideroblastic anemia hydrops, lactic acidosis, and sideroblastic anemia + + + + HLASA + + @@ -299974,6 +361720,12 @@ lethal congenital contracture syndrome 10 lethal congenital contracture syndrome 10 + + + + LCCS10 + + @@ -299997,6 +361749,12 @@ retinitis pigmentosa 75 retinitis pigmentosa 75 + + + + RP75 + + @@ -300008,6 +361766,12 @@ night blindness, congenital stationary, type 1h night blindness, congenital stationary, type 1h + + + + CSNB1H + + @@ -300018,6 +361782,12 @@ nevus comedonicus nevus comedonicus + + + + NC + + @@ -300041,6 +361811,12 @@ pontocerebellar hypoplasia, type 2f pontocerebellar hypoplasia, type 2f + + + + PCH2F + + @@ -300054,6 +361830,12 @@ hyperaldosteronism, familial, type 4 hyperaldosteronism, familial, type 4 + + + + HALD4 + + @@ -300078,6 +361860,12 @@ mental retardation, autosomal recessive 54 intellectual developmental disorder, autosomal recessive 54 + + + + MRT54 + + @@ -300101,6 +361889,12 @@ myopathy, distal, 5 myopathy, distal, 5 + + + + MPD5 + + @@ -300112,6 +361906,12 @@ patent ductus arteriosus 2 patent ductus arteriosus 2 + + + + PDA2 + + @@ -300137,6 +361937,12 @@ ACER3 + + + + ACER3 + + @@ -300160,6 +361966,12 @@ patent ductus arteriosus 3 patent ductus arteriosus 3 + + + + PDA3 + + @@ -300171,6 +361983,12 @@ duane retraction syndrome 3 with or without deafness duane retraction syndrome 3 with or without deafness + + + + DURS3 + + @@ -300195,6 +362013,12 @@ transketolase deficiency short stature, developmental delay, and congenital heart defects + + + + SDDHD + + @@ -300206,6 +362030,12 @@ spastic paraplegia 77, autosomal recessive spastic paraplegia 77, autosomal recessive + + + + SPG77 + + @@ -300223,6 +362053,12 @@ This term has one or more labels that end with ', INCLUDED'. cardiomyopathy, familial hypertrophic, 26 + + + + CMH26 + + @@ -300247,6 +362083,12 @@ DNAJC21 + + + + DNAJC21 + + @@ -300270,6 +362112,12 @@ cholestasis, progressive familial intrahepatic, 5 cholestasis, progressive familial intrahepatic, 5 + + + + PFIC5 + + @@ -300293,6 +362141,12 @@ hermansky-pudlak syndrome 10 hermansky-pudlak syndrome 10 + + + + HPS10 + + @@ -300316,6 +362170,12 @@ neurodevelopmental disorder with microcephaly and gray sclerae neurodevelopmental disorder with microcephaly and gray sclerae + + + + NEDMIGS + + @@ -300339,6 +362199,12 @@ bone marrow failure syndrome 3 bone marrow failure syndrome 3 + + + + BMFS3 + + @@ -300350,6 +362216,12 @@ myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy mirage syndrome + + + + MIRAGE + + @@ -300374,6 +362246,12 @@ striatonigral degeneration, childhood-onset striatonigral degeneration, childhood-onset + + + + SNDC + + @@ -300386,6 +362264,12 @@ perching syndrome perching syndrome + + + + PERCHING + + @@ -300398,6 +362282,12 @@ tubulointerstitial kidney disease, autosomal dominant, 5 tubulointerstitial kidney disease, autosomal dominant, 5 + + + + ADTKD5 + + @@ -300424,6 +362314,12 @@ CTU2 + + + + CTU2 + + @@ -300436,6 +362332,12 @@ mental retardation, autosomal dominant 44 intellectual developmental disorder, autosomal dominant 44, with microcephaly + + + + MRD44 + + @@ -300458,6 +362360,12 @@ okur-chung neurodevelopmental syndrome okur-chung neurodevelopmental syndrome + + + + OCNDS + + @@ -300481,6 +362389,12 @@ meier-gorlin syndrome 7 meier-gorlin syndrome 7 + + + + MGORS7 + + @@ -300507,6 +362421,12 @@ GUF1 + + + + GUF1 + + @@ -300531,6 +362451,12 @@ epileptic encephalopathy, early infantile, 40 developmental and epileptic encephalopathy 40 + + + + DEE40 + + @@ -300541,6 +362467,12 @@ muscular dystrophy, congenital, davignon-chauveau type muscular dystrophy, congenital, davignon-chauveau type + + + + MDCDC + + @@ -300552,6 +362484,12 @@ portal hypertension, noncirrhotic, 1 portal hypertension, noncirrhotic, 1 + + + + NCPH1 + + @@ -300564,6 +362502,12 @@ progressive external ophthalmoplegia, autosomal recessive 3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 + + + + PEOB3 + + @@ -300576,6 +362520,12 @@ progressive external ophthalmoplegia, autosomal recessive 4 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 + + + + PEOB4 + + @@ -300600,6 +362550,12 @@ myopathy, autosomal recessive, with rigid spine and distal joint contractures myopathy, autosomal recessive, with rigid spine and distal joint contractures + + + + MRRSDC + + @@ -300611,6 +362567,12 @@ tooth agenesis, selective, 8 tooth agenesis, selective, 8 + + + + STHAG8 + + @@ -300633,6 +362595,12 @@ nasopharyngeal carcinoma, susceptibility to, 3 nasopharyngeal carcinoma, susceptibility to, 3 + + + + NPCA3 + + @@ -300645,6 +362613,12 @@ seizures, benign familial infantile, 5 seizures, benign familial infantile, 5 + + + + BFIS5 + + @@ -300656,6 +362630,12 @@ congenital disorder of glycosylation, type iaa congenital disorder of glycosylation, type iaa + + + + CDG1AA + + @@ -300681,6 +362661,12 @@ DYNC2LI1 + + + + DYNC2LI1 + + @@ -300704,6 +362690,12 @@ encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to defective mitochondrial and peroxisomal fission 2 + + + + EMPF2 + + @@ -300715,6 +362707,12 @@ charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b + + + + CMT2A2B + + @@ -300738,6 +362736,12 @@ short-rib thoracic dysplasia 15 with polydactyly short-rib thoracic dysplasia 15 with polydactyly + + + + SRTD15 + + @@ -300762,6 +362766,12 @@ NEPRO + + + + NEPRO + + @@ -300785,6 +362795,12 @@ microcephaly 17, primary, autosomal recessive microcephaly 17, primary, autosomal recessive + + + + MCPH17 + + @@ -300809,6 +362825,12 @@ ciliary dyskinesia, primary, 34, without situs inversus ciliary dyskinesia, primary, 34 + + + + CILD34 + + @@ -300833,6 +362855,12 @@ ciliary dyskinesia, primary, 35, with or without situs inversus ciliary dyskinesia, primary, 35 + + + + CILD35 + + @@ -300855,6 +362883,12 @@ growth retardation, impaired intellectual development, hypotonia, and hepatopathy growth retardation, impaired intellectual development, hypotonia, and hepatopathy + + + + GRIDHH + + @@ -300879,6 +362913,12 @@ IFT52 + + + + IFT52 + + @@ -300903,6 +362943,12 @@ ODAD4 + + + + ODAD4 + + @@ -300915,6 +362961,12 @@ otulipenia autoinflammation, panniculitis, and dermatosis syndrome + + + + AIPDS + + @@ -300926,6 +362978,12 @@ familial adenomatous polyposis 4 familial adenomatous polyposis 4 + + + + FAP4 + + @@ -300972,6 +363030,12 @@ short-rib thoracic dysplasia 16 with or without polydactyly short-rib thoracic dysplasia 16 with or without polydactyly + + + + SRTD16 + + @@ -300995,6 +363059,12 @@ ZNF668 + + + + ZNF668 + + @@ -301019,6 +363089,12 @@ epileptic encephalopathy, early infantile, 41 developmental and epileptic encephalopathy 41 + + + + DEE41 + + @@ -301031,6 +363107,12 @@ epileptic encephalopathy, early infantile, 42 developmental and epileptic encephalopathy 42 + + + + DEE42 + + @@ -301053,6 +363135,12 @@ thauvin-robinet-faivre syndrome thauvin-robinet-faivre syndrome + + + + TROFAS + + @@ -301075,6 +363163,12 @@ sessile serrated polyposis cancer syndrome sessile serrated polyposis cancer syndrome + + + + SSPCS + + @@ -301098,6 +363192,12 @@ CEP78 + + + + CEP78 + + @@ -301122,6 +363222,12 @@ martinique crinkled retinal pigment epitheliopathy macular dystrophy, patterned, 3 + + + + MDPT3 + + @@ -301158,6 +363264,12 @@ ofd1- and fopnl-interacting protein KIAA0753 + + + + KIAA0753 + + @@ -301170,6 +363282,12 @@ epileptic encephalopathy, early infantile, 43 developmental and epileptic encephalopathy 43 + + + + DEE43 + + @@ -301193,6 +363311,12 @@ myopathy, myofibrillar, 7 myopathy, myofibrillar, 7 + + + + MFM7 + + @@ -301216,6 +363340,12 @@ peeling skin syndrome 5 peeling skin syndrome 5 + + + + PSS5 + + @@ -301239,6 +363369,12 @@ epilepsy, familial focal, with variable foci 2 epilepsy, familial focal, with variable foci 2 + + + + FFEVF2 + + @@ -301262,6 +363398,12 @@ epilepsy, familial focal, with variable foci 3 epilepsy, familial focal, with variable foci 3 + + + + FFEVF3 + + @@ -301274,6 +363416,12 @@ bardet-biedl syndrome 22 bardet-biedl syndrome 22 + + + + BBS22 + + @@ -301285,6 +363433,12 @@ joubert syndrome 27 joubert syndrome 27 + + + + JBTS27 + + @@ -301296,6 +363450,12 @@ joubert syndrome 28 joubert syndrome 28 + + + + JBTS28 + + @@ -301307,6 +363467,12 @@ retinitis pigmentosa 76 retinitis pigmentosa 76 + + + + RP76 + + @@ -301331,6 +363497,12 @@ mental retardation, autosomal recessive 56 intellectual developmental disorder, autosomal recessive 56 + + + + MRT56 + + @@ -301353,6 +363525,12 @@ alazami-yuan syndrome alazami-yuan syndrome + + + + ALYUS + + @@ -301366,6 +363544,12 @@ orofaciodigital syndrome 15 orofaciodigital syndrome 15 + + + + OFD15 + + @@ -301390,6 +363574,12 @@ TERB2 + + + + TERB2 + + @@ -301402,6 +363592,12 @@ epileptic encephalopathy, early infantile, 44 developmental and epileptic encephalopathy 44 + + + + DEE44 + + @@ -301413,6 +363609,12 @@ spinocerebellar ataxia, autosomal recessive 24 spinocerebellar ataxia, autosomal recessive 24 + + + + SCAR24 + + @@ -301424,6 +363626,12 @@ frontometaphyseal dysplasia 2 frontometaphyseal dysplasia 2 + + + + FMD2 + + @@ -301448,6 +363656,12 @@ zttk syndrome zttk syndrome + + + + ZTTKS + + @@ -301471,6 +363685,12 @@ aniridia 2 aniridia 2 + + + + AN2 + + @@ -301494,6 +363714,12 @@ aniridia 3 aniridia 3 + + + + AN3 + + @@ -301505,6 +363731,12 @@ myasthenic syndrome, congenital, 20, presynaptic myasthenic syndrome, congenital, 20, presynaptic + + + + CMS20 + + @@ -301515,6 +363747,12 @@ neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset + + + + NADGP + + @@ -301525,6 +363763,12 @@ arthrogryposis, distal, with impaired proprioception and touch arthrogryposis, distal, with impaired proprioception and touch + + + + DAIPT + + @@ -301549,6 +363793,12 @@ epileptic encephalopathy, early infantile, 45 developmental and epileptic encephalopathy 45 + + + + DEE45 + + @@ -301573,6 +363823,12 @@ mitochondrial dna depletion syndrome 15 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) + + + + MTDPS15 + + @@ -301601,6 +363857,12 @@ short stature, brachydactyly, impaired intellectual development, and seizures short stature, brachydactyly, impaired intellectual development, and seizures + + + + SBIDDS + + @@ -301612,6 +363874,12 @@ myopathy, distal, with rimmed vacuoles myopathy, distal, with rimmed vacuoles + + + + DMRV + + @@ -301635,6 +363903,12 @@ sifrim-hitz-weiss syndrome sifrim-hitz-weiss syndrome + + + + SIHIWES + + @@ -301659,6 +363933,12 @@ epileptic encephalopathy, early infantile, 46 developmental and epileptic encephalopathy 46 + + + + DEE46 + + @@ -301682,6 +363962,12 @@ short stature-micrognathia syndrome short stature-micrognathia syndrome + + + + SSMG + + @@ -301706,6 +363992,12 @@ epileptic encephalopathy, early infantile, 47 developmental and epileptic encephalopathy 47 + + + + DEE47 + + @@ -301730,6 +364022,12 @@ aortic aneurysm, thoracic, with or without aortic dissection aortic aneurysm, familial thoracic 10 + + + + AAT10 + + @@ -301742,6 +364040,12 @@ sotos syndrome 3, formerly intellectual developmental disorder, autosomal recessive 74 + + + + MRT74 + + @@ -301768,6 +364072,12 @@ CWC27 + + + + CWC27 + + @@ -301779,6 +364089,12 @@ neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures + + + + NEDHELS + + @@ -301790,6 +364106,12 @@ lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia + + + + LDMLS1 + + @@ -301801,6 +364123,12 @@ ehlers-danlos syndrome, periodontal type, 2 ehlers-danlos syndrome, periodontal type, 2 + + + + EDSPD2 + + @@ -301823,6 +364151,12 @@ retinal dystrophy with or without extraocular anomalies retinal dystrophy with or without extraocular anomalies + + + + RDEOA + + @@ -301833,6 +364167,12 @@ chitayat syndrome chitayat syndrome + + + + CHYTS + + @@ -301844,6 +364184,12 @@ lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia + + + + LDMLS2 + + @@ -301854,6 +364200,12 @@ harel-yoon syndrome harel-yoon syndrome + + + + HAYOS + + @@ -301865,6 +364217,12 @@ mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant + + + + MTDPS12A + + @@ -301889,6 +364247,12 @@ pebel encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 + + + + PEBEL1 + + @@ -301913,6 +364277,12 @@ spermatogenic failure 16 spermatogenic failure 16 + + + + SPGF16 + + @@ -301936,6 +364306,12 @@ intellectual developmental disorder, autosomal recessive 57 intellectual developmental disorder, autosomal recessive 57 + + + + MRT57 + + @@ -301958,6 +364334,12 @@ shashi-pena syndrome shashi-pena syndrome + + + + SHAPNS + + @@ -301980,6 +364362,12 @@ encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum + + + + PEBAT + + @@ -302003,6 +364391,12 @@ lethal congenital contracture syndrome 11 lethal congenital contracture syndrome 11 + + + + LCCS11 + + @@ -302027,6 +364421,12 @@ NSUN6 + + + + NSUN6 + + @@ -302050,6 +364450,12 @@ periventricular nodular heterotopia 7 periventricular nodular heterotopia 7 + + + + PVNH7 + + @@ -302073,6 +364479,12 @@ heterotaxy, visceral, 8, autosomal heterotaxy, visceral, 8, autosomal + + + + HTX8 + + @@ -302083,6 +364495,12 @@ encephalopathy, progressive, with amyotrophy and optic atrophy encephalopathy, progressive, with amyotrophy and optic atrophy + + + + PEAMO + + @@ -302109,6 +364527,12 @@ QRSL1 + + + + QRSL1 + + @@ -302133,6 +364557,12 @@ GATC + + + + GATC + + @@ -302155,6 +364585,12 @@ sedoheptulokinase deficiency sedoheptulokinase deficiency + + + + SHPKD + + @@ -302179,6 +364615,12 @@ spermatogenic failure 17 spermatogenic failure 17 + + + + SPGF17 + + @@ -302202,6 +364644,12 @@ amelogenesis imperfecta, hypomaturation type, iia6 amelogenesis imperfecta, hypomaturation type, iia6 + + + + AI2A6 + + @@ -302226,6 +364674,12 @@ TMTC3 + + + + TMTC3 + + @@ -302265,6 +364719,12 @@ PYROXD1 + + + + PYROXD1 + + @@ -302288,6 +364748,12 @@ HKDC1 + + + + HKDC1 + + @@ -302298,6 +364764,12 @@ sudden cardiac failure, infantile sudden cardiac failure, infantile + + + + SCFI + + @@ -302308,6 +364780,12 @@ sudden cardiac failure, alcohol-induced sudden cardiac failure, alcohol-induced + + + + SCFAI + + @@ -302319,6 +364797,12 @@ spastic paraplegia 78, autosomal recessive spastic paraplegia 78, autosomal recessive + + + + SPG78 + + @@ -302342,6 +364826,12 @@ combined oxidative phosphorylation deficiency 31 combined oxidative phosphorylation deficiency 31 + + + + COXPD31 + + @@ -302354,6 +364844,12 @@ muscular dystrophy, limb-girdle, type 2z muscular dystrophy, limb-girdle, autosomal recessive 21 + + + + LGMDR21 + + @@ -302378,6 +364874,12 @@ preimplantation embryonic lethality 2 oocyte/zygote/embryo maturation arrest 16 + + + + OZEMA16 + + @@ -302388,6 +364890,12 @@ myoclonus, intractable, neonatal myoclonus, intractable, neonatal + + + + NEIMY + + @@ -302412,6 +364920,12 @@ crdhl cone-rod dystrophy and hearing loss 1 + + + + CRDHL1 + + @@ -302426,6 +364940,12 @@ severe combined immunodeficiency, t cell-negative, B cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities immunodeficiency 49, severe combined + + + + IMD49 + + @@ -302449,6 +364969,12 @@ myopia 25, autosomal dominant myopia 25, autosomal dominant + + + + MYP25 + + @@ -302472,6 +364998,12 @@ myasthenic syndrome, congenital, 21, presynaptic myasthenic syndrome, congenital, 21, presynaptic + + + + CMS21 + + @@ -302494,6 +365026,12 @@ lung disease, immunodeficiency, and chromosome breakage syndrome lung disease, immunodeficiency, and chromosome breakage syndrome + + + + LICS + + @@ -302521,6 +365059,12 @@ TECRL + + + + TECRL + + @@ -302544,6 +365088,12 @@ fanconi anemia, complementation group 5 fanconi anemia, complementation group 5 + + + + FANCV + + @@ -302555,6 +365105,12 @@ fanconi anemia, complementation group r fanconi anemia, complementation group r + + + + FANCR + + @@ -302580,6 +365136,12 @@ HECW2 + + + + HECW2 + + @@ -302607,6 +365169,12 @@ NSMCE2 + + + + NSMCE2 + + @@ -302618,6 +365186,12 @@ fanconi anemia, complementation group u fanconi anemia, complementation group u + + + + FANCU + + @@ -302629,6 +365203,12 @@ MGCA8 3-methylglutaconic aciduria, type 8 + + + + MGCA8 + + @@ -302651,6 +365231,12 @@ uncombable hair syndrome 2 uncombable hair syndrome 2 + + + + UHS2 + + @@ -302673,6 +365259,12 @@ uncombable hair syndrome 3 uncombable hair syndrome 3 + + + + UHS3 + + @@ -302696,6 +365288,12 @@ seckel syndrome 10 seckel syndrome 10 + + + + SCKL10 + + @@ -302719,6 +365317,12 @@ lissencephaly 8 lissencephaly 8 + + + + LIS8 + + @@ -302742,6 +365346,12 @@ myopathy, myofibrillar, 8 myopathy, myofibrillar, 8 + + + + MFM8 + + @@ -302764,6 +365374,12 @@ global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies + + + + GDACCF + + @@ -302787,6 +365403,12 @@ KIAA0825 + + + + KIAA0825 + + @@ -302809,6 +365431,12 @@ neurodevelopmental disorder with hypotonia, seizures, and absent language neurodevelopmental disorder with hypotonia, seizures, and absent language + + + + NDHSAL + + @@ -302833,6 +365461,12 @@ mental retardation, autosomal recessive 58 intellectual developmental disorder, autosomal recessive 58 + + + + MRT58 + + @@ -302856,6 +365490,12 @@ nephronophthisis 20 nephronophthisis 20 + + + + NPHP20 + + @@ -302866,6 +365506,12 @@ glaucoma 3, primary congenital, e glaucoma 3, primary congenital, e + + + + GLC3E + + @@ -302891,6 +365537,12 @@ CIBAR1 + + + + CIBAR1 + + @@ -302914,6 +365566,12 @@ tooth agenesis, selective, 9 tooth agenesis, selective, 9 + + + + STHAG9 + + @@ -302938,6 +365596,12 @@ epileptic encephalopathy, early infantile, 48 developmental and epileptic encephalopathy 48 + + + + DEE48 + + @@ -302963,6 +365627,12 @@ DNHD1 + + + + DNHD1 + + @@ -302988,6 +365658,12 @@ DENND5A + + + + DENND5A + + @@ -303011,6 +365687,12 @@ atrial fibrillation, familial, 18 atrial fibrillation, familial, 18 + + + + ATFB18 + + @@ -303035,6 +365717,12 @@ epileptic encephalopathy, early infantile, 49 developmental and epileptic encephalopathy 49 + + + + DEE49 + + @@ -303048,6 +365736,12 @@ mepan syndrome dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities + + + + DYTOABG + + @@ -303059,6 +365753,12 @@ dystonia 28, childhood-onset dystonia 28, childhood-onset + + + + DYT28 + + @@ -303083,6 +365783,12 @@ epvb6d epilepsy, early-onset, 1, vitamin b6-dependent + + + + EPEO1 + + @@ -303096,6 +365802,12 @@ epidermolysis bullosa simplex, generalized, with scarring and hair loss epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy + + + + EBS6 + + @@ -303106,6 +365818,12 @@ spastic paraplegia, intellectual disability, nystagmus, and obesity spastic paraplegia, intellectual disability, nystagmus, and obesity + + + + SINO + + @@ -303129,6 +365847,12 @@ amelogenesis imperfecta, type 1j amelogenesis imperfecta, type 1j + + + + AI1J + + @@ -303142,6 +365866,12 @@ lymphatic malformation 7 lymphatic malformation 7 + + + + LMPHM7 + + @@ -303186,6 +365916,12 @@ optic atrophy 11 optic atrophy 11 + + + + OPA11 + + @@ -303208,6 +365944,12 @@ mucopolysaccharidosis-plus syndrome mucopolysaccharidosis-plus syndrome + + + + MPSPS + + @@ -303231,6 +365973,12 @@ retinitis pigmentosa 77 retinitis pigmentosa 77 + + + + RP77 + + @@ -303241,6 +365989,12 @@ coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness + + + + COMMAD + + @@ -303270,6 +366024,12 @@ six6 opposite strand transcript 1 C14ORF39 + + + + C14ORF39 + + @@ -303293,6 +366053,12 @@ bile acid synthesis defect, congenital, 6 bile acid synthesis defect, congenital, 6 + + + + CBAS6 + + @@ -303304,6 +366070,12 @@ anterior segment dysgenesis 6 anterior segment dysgenesis 6 + + + + ASGD6 + + @@ -303327,6 +366099,12 @@ anterior segment dysgenesis 8 anterior segment dysgenesis 8 + + + + ASGD8 + + @@ -303350,6 +366128,12 @@ ichthyosis, congenital, autosomal recessive 12 ichthyosis, congenital, autosomal recessive 12 + + + + ARCI12 + + @@ -303360,6 +366144,12 @@ yao syndrome yao syndrome + + + + YAOS + + @@ -303384,6 +366174,12 @@ mental retardation, autosomal recessive 59 intellectual developmental disorder, autosomal recessive 59 + + + + MRT59 + + @@ -303406,6 +366202,12 @@ hypotonia, ataxia, and delayed development syndrome hypotonia, ataxia, and delayed development syndrome + + + + HADDS + + @@ -303430,6 +366232,12 @@ TERB1 + + + + TERB1 + + @@ -303452,6 +366260,12 @@ intellectual developmental disorder with dysmorphic facies and ptosis intellectual developmental disorder with dysmorphic facies and ptosis + + + + IDDDFP + + @@ -303464,6 +366278,12 @@ nemaline myopathy 11, autosomal recessive congenital myopathy 24 + + + + CMYO24 + + @@ -303487,6 +366307,12 @@ ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type + + + + ECTD12 + + @@ -303511,6 +366337,12 @@ epileptic encephalopathy, early infantile, 51 developmental and epileptic encephalopathy 51 + + + + DEE51 + + @@ -303534,6 +366366,12 @@ cerebroretinal microangiopathy with calcifications and cysts 2 cerebroretinal microangiopathy with calcifications and cysts 2 + + + + CRMCC2 + + @@ -303558,6 +366396,12 @@ PTRHD1 + + + + PTRHD1 + + @@ -303569,6 +366413,12 @@ hyperparathyroidism 4 hyperparathyroidism 4 + + + + HRPT4 + + @@ -303599,6 +366449,12 @@ aortic aneurysm, familial thoracic 11, susceptibility to aortic aneurysm, familial thoracic 11, susceptibility to + + + + AAT11 + + @@ -303611,6 +366467,12 @@ epileptic encephalopathy, early infantile, 52 developmental and epileptic encephalopathy 52 + + + + DEE52 + + @@ -303640,6 +366502,12 @@ uniparental disomy, maternal, chromosome 20 mulchandani-bhoj-conlin syndrome + + + + MBCS + + @@ -303664,6 +366532,12 @@ DYNLT2B + + + + DYNLT2B + + @@ -303686,6 +366560,12 @@ congenital heart defects, dysmorphic facial features, and intellectual developmental disorder congenital heart defects, dysmorphic facial features, and intellectual developmental disorder + + + + CHDFIDD + + @@ -303717,6 +366597,12 @@ kiaa1517 DHX37 + + + + DHX37 + + @@ -303739,6 +366625,12 @@ congenital heart defects and ectodermal dysplasia congenital heart defects and ectodermal dysplasia + + + + CHDED + + @@ -303750,6 +366642,12 @@ peroxisome biogenesis disorder 10b peroxisome biogenesis disorder 10b + + + + PBD10B + + @@ -303774,6 +366672,12 @@ ZNF462 + + + + ZNF462 + + @@ -303801,6 +366705,12 @@ MYL11 + + + + MYL11 + + @@ -303812,6 +366722,12 @@ avascular necrosis of femoral head, primary, 2 avascular necrosis of femoral head, primary, 2 + + + + ANFH2 + + @@ -303834,6 +366750,12 @@ hyperphenylalaninemia, mild, non-bh4-deficient hyperphenylalaninemia, mild, non-bh4-deficient + + + + HPANBH4 + + @@ -303845,6 +366767,12 @@ nuclear receptor subfamily 1, group h, member 5, pseudogene nuclear receptor subfamily 1, group h, member 5, pseudogene + + + + NR1H5P + + @@ -303868,6 +366796,12 @@ QRICH1 + + + + QRICH1 + + @@ -303878,6 +366812,12 @@ autoinflammation with arthritis and dyskeratosis autoinflammation with arthritis and dyskeratosis + + + + AIADK + + @@ -303890,6 +366830,12 @@ epileptic encephalopathy, early infantile, 53 developmental and epileptic encephalopathy 53 + + + + DEE53 + + @@ -303914,6 +366860,12 @@ epileptic encephalopathy, early infantile, 54 developmental and epileptic encephalopathy 54 + + + + DEE54 + + @@ -303937,6 +366889,12 @@ ectodermal dysplasia 13, hair/tooth type ectodermal dysplasia 13, hair/tooth type + + + + ECTD13 + + @@ -303959,6 +366917,12 @@ neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination + + + + NECFM + + @@ -303969,6 +366933,12 @@ sclerosing cholangitis, neonatal sclerosing cholangitis, neonatal + + + + NSC + + @@ -303993,6 +366963,12 @@ congenital disorder of glycosylation, type iiq congenital disorder of glycosylation, type iiq + + + + CDG2Q + + @@ -304016,6 +366992,12 @@ anauxetic dysplasia 2 anauxetic dysplasia 2 + + + + ANXD2 + + @@ -304039,6 +367021,12 @@ pseudo-torch syndrome 2 pseudo-torch syndrome 2 + + + + PTORCH2 + + @@ -304062,6 +367050,12 @@ cutis laxa, autosomal recessive, type 2c cutis laxa, autosomal recessive, type 2c + + + + ARCL2C + + @@ -304073,6 +367067,12 @@ cutis laxa, autosomal recessive, type 2d cutis laxa, autosomal recessive, type 2d + + + + ARCL2D + + @@ -304095,6 +367095,12 @@ muscular dystrophy, congenital, with cataracts and intellectual disability muscular dystrophy, congenital, with cataracts and intellectual disability + + + + MDCCAID + + @@ -304118,6 +367124,12 @@ short-rib thoracic dysplasia 17 with or without polydactyly short-rib thoracic dysplasia 17 with or without polydactyly + + + + SRTD17 + + @@ -304129,6 +367141,12 @@ bardet-biedl syndrome 21 bardet-biedl syndrome 21 + + + + BBS21 + + @@ -304152,6 +367170,12 @@ diamond-blackfan anemia 16 diamond-blackfan anemia 16 + + + + DBA16 + + @@ -304175,6 +367199,12 @@ diamond-blackfan anemia 17 diamond-blackfan anemia 17 + + + + DBA17 + + @@ -304198,6 +367228,12 @@ macinnes syndrome brachycephaly, trichomegaly, and developmental delay + + + + BTDD + + @@ -304223,6 +367259,12 @@ PRUNE1 + + + + PRUNE1 + + @@ -304247,6 +367289,12 @@ RPL3L + + + + RPL3L + + @@ -304272,6 +367320,12 @@ WDR26 + + + + WDR26 + + @@ -304294,6 +367348,12 @@ immunoskeletal dysplasia with neurodevelopmental abnormalities immunoskeletal dysplasia with neurodevelopmental abnormalities + + + + ISDNA + + @@ -304318,6 +367378,12 @@ USP53 + + + + USP53 + + @@ -304342,6 +367408,12 @@ mental retardation, autosomal recessive 60 intellectual developmental disorder, autosomal recessive 60 + + + + MRT60 + + @@ -304365,6 +367437,12 @@ retinitis pigmentosa 78 retinitis pigmentosa 78 + + + + RP78 + + @@ -304375,6 +367453,12 @@ lopes-maciel-rodan syndrome lopes-maciel-rodan syndrome + + + + LOMARS + + @@ -304400,6 +367484,12 @@ GON7 + + + + GON7 + + @@ -304413,6 +367503,12 @@ crs7, digenic craniosynostosis 7 + + + + CRS7 + + @@ -304435,6 +367531,12 @@ thrombocytopenia, anemia, and myelofibrosis thrombocytopenia, anemia, and myelofibrosis + + + + THAMY + + @@ -304446,6 +367548,12 @@ premature ovarian failure 13 premature ovarian failure 13 + + + + POF13 + + @@ -304469,6 +367577,12 @@ bleeding disorder, platelet-type, 21 bleeding disorder, platelet-type, 21 + + + + BDPLT21 + + @@ -304495,6 +367609,12 @@ USP48 + + + + USP48 + + @@ -304519,6 +367639,12 @@ TMEM260 + + + + TMEM260 + + @@ -304530,6 +367656,12 @@ jansen-de vries syndrome jansen-de vries syndrome + + + + JDVS + + @@ -304552,6 +367684,12 @@ intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies + + + + IDDFSDA + + @@ -304575,6 +367713,12 @@ tetratricopeptide repeat domain-containing protein 26 TTC26 + + + + TTC26 + + @@ -304601,6 +367745,12 @@ POLR3F + + + + POLR3F + + @@ -304627,6 +367777,12 @@ POLR3GL + + + + POLR3GL + + @@ -304638,6 +367794,12 @@ retinitis pigmentosa 79 retinitis pigmentosa 79 + + + + RP79 + + @@ -304661,6 +367823,12 @@ townes-brocks syndrome 2 townes-brocks syndrome 2 + + + + TBS2 + + @@ -304685,6 +367853,12 @@ arthrogryposis multiplex congenita, neurogenic, with myelin defect arthrogryposis multiplex congenita 1, neurogenic, with myelin defect + + + + AMC1 + + @@ -304708,6 +367882,12 @@ specific granule deficiency 2 specific granule deficiency 2 + + + + SGD2 + + @@ -304730,6 +367910,12 @@ structural heart defects and renal anomalies syndrome structural heart defects and renal anomalies syndrome + + + + SHDRA + + @@ -304741,6 +367927,12 @@ SRXX4 46,xx sex reversal 4 + + + + SRXX4 + + @@ -304763,6 +367955,12 @@ neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies + + + + NMIHBA + + @@ -304788,6 +367986,12 @@ WDFY3 + + + + WDFY3 + + @@ -304812,6 +368016,12 @@ NSUN3 + + + + NSUN3 + + @@ -304822,6 +368032,12 @@ neurodevelopmental disorder with involuntary movements neurodevelopmental disorder with involuntary movements + + + + NEDIM + + @@ -304846,6 +368062,12 @@ noonan syndrome-like disorder with loose anagen hair 2 noonan syndrome-like disorder with loose anagen hair 2 + + + + NSLH2 + + @@ -304869,6 +368091,12 @@ progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome peho-like syndrome + + + + PEHOL + + @@ -304893,6 +368121,12 @@ VWA8 + + + + VWA8 + + @@ -304917,6 +368151,12 @@ OGDHL + + + + OGDHL + + @@ -304940,6 +368180,12 @@ immunodeficiency 52 immunodeficiency 52 + + + + IMD52 + + @@ -304962,6 +368208,12 @@ stankiewicz-isidor syndrome stankiewicz-isidor syndrome + + + + STISS + + @@ -304985,6 +368237,12 @@ neurodevelopmental disorder with hypotonia, neuropathy, and deafness neurodevelopmental disorder with hypotonia, neuropathy, and deafness + + + + NEDHND + + @@ -305008,6 +368266,12 @@ microcephaly 18, primary, autosomal dominant microcephaly 18, primary, autosomal dominant + + + + MCPH18 + + @@ -305030,6 +368294,12 @@ neurodevelopmental disorder with midbrain and hindbrain malformations neurodevelopmental disorder with midbrain and hindbrain malformations + + + + NEDMHM + + @@ -305053,6 +368323,12 @@ erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis et progressiva 2 + + + + EKVP2 + + @@ -305064,6 +368340,12 @@ erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia variabilis et progressiva 3 + + + + EKVP3 + + @@ -305087,6 +368369,12 @@ erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis et progressiva 4 + + + + EKVP4 + + @@ -305109,6 +368397,12 @@ neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies + + + + NDMSBA + + @@ -305134,6 +368428,12 @@ COLGALT1 + + + + COLGALT1 + + @@ -305156,6 +368456,12 @@ intellectual developmental disorder with neuropsychiatric features intellectual developmental disorder with neuropsychiatric features + + + + IDDNPF + + @@ -305178,6 +368484,12 @@ rahman syndrome rahman syndrome + + + + RMNS + + @@ -305204,6 +368516,12 @@ EFL1 + + + + EFL1 + + @@ -305228,6 +368546,12 @@ CLCC1 + + + + CLCC1 + + @@ -305239,6 +368563,12 @@ pituitary adenoma 5, multiple types pituitary adenoma 5, multiple types + + + + PITA5 + + @@ -305251,6 +368581,12 @@ gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development + + + + HGPPS2 + + @@ -305261,6 +368597,12 @@ retinal dystrophy with or without macular staphyloma retinal dystrophy with or without macular staphyloma + + + + RDMS + + @@ -305283,6 +368625,12 @@ gabriele-de vries syndrome gabriele-de vries syndrome + + + + GADEVS + + @@ -305313,6 +368661,12 @@ wd repeat-containing protein 96 CFAP43 + + + + CFAP43 + + @@ -305337,6 +368691,12 @@ CFAP44 + + + + CFAP44 + + @@ -305360,6 +368720,12 @@ spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy + + + + SPAX8 + + @@ -305382,6 +368748,12 @@ cohen-gibson syndrome cohen-gibson syndrome + + + + COGIS + + @@ -305396,6 +368768,12 @@ This term has one or more labels that end with ', INCLUDED'. meckel syndrome 13 + + + + MKS13 + + @@ -305409,6 +368787,12 @@ orofaciodigital syndrome 16 orofaciodigital syndrome 16 + + + + OFD16 + + @@ -305432,6 +368816,12 @@ meier-gorlin syndrome 8 meier-gorlin syndrome 8 + + + + MGORS8 + + @@ -305455,6 +368845,12 @@ perrault syndrome 6 perrault syndrome 6 + + + + PRLTS6 + + @@ -305481,6 +368877,12 @@ KIF15 + + + + KIF15 + + @@ -305506,6 +368908,12 @@ DZIP1L + + + + DZIP1L + + @@ -305529,6 +368937,12 @@ ichthyosis, congenital, autosomal recessive 14 ichthyosis, congenital, autosomal recessive 14 + + + + ARCI14 + + @@ -305540,6 +368954,12 @@ exudative vitreoretinopathy 7 exudative vitreoretinopathy 7 + + + + EVR7 + + @@ -305563,6 +368983,12 @@ ichthyosis, congenital, autosomal recessive 13 ichthyosis, congenital, autosomal recessive 13 + + + + ARCI13 + + @@ -305589,6 +369015,12 @@ sphingosine phosphate lyase insufficiency syndrome reni syndrome + + + + RENI + + @@ -305600,6 +369032,12 @@ spermatogenic failure 18 spermatogenic failure 18 + + + + SPGF18 + + @@ -305612,6 +369050,12 @@ ciliary dyskinesia, primary, 37, with or without situs inversus ciliary dyskinesia, primary, 37 + + + + CILD37 + + @@ -305637,6 +369081,12 @@ CLDN10 + + + + CLDN10 + + @@ -305660,6 +369110,12 @@ spinocerebellar ataxia, autosomal recessive 25 spinocerebellar ataxia, autosomal recessive 25 + + + + SCAR25 + + @@ -305683,6 +369139,12 @@ immunodeficiency 53 immunodeficiency 53 + + + + IMD53 + + @@ -305708,6 +369170,12 @@ This term has one or more labels that end with ', INCLUDED'. proteasome-associated autoinflammatory syndrome 3 + + + + PRAAS3 + + @@ -305719,6 +369187,12 @@ spermatogenic failure 19 spermatogenic failure 19 + + + + SPGF19 + + @@ -305742,6 +369216,12 @@ spermatogenic failure 20 spermatogenic failure 20 + + + + SPGF20 + + @@ -305764,6 +369244,12 @@ birk-landau-perez syndrome birk-landau-perez syndrome + + + + BILAPES + + @@ -305789,6 +369275,12 @@ maleylacetoacetate isomerase deficiency maleylacetoacetate isomerase deficiency + + + + MAAID + + @@ -305800,6 +369292,12 @@ mosaic variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome 3 + + + + MVA3 + + @@ -305825,6 +369323,12 @@ glycosylphosphatidylinositol biosynthesis defect 14 developmental and epileptic encephalopathy 55 + + + + DEE55 + + @@ -305849,6 +369353,12 @@ mental retardation, autosomal dominant 45 intellectual developmental disorder, autosomal dominant 45 + + + + MRD45 + + @@ -305873,6 +369383,12 @@ mental retardation, autosomal dominant 46 intellectual developmental disorder, autosomal dominant 46 + + + + MRD46 + + @@ -305883,6 +369399,12 @@ congenital heart defects and skeletal malformations syndrome congenital heart defects and skeletal malformations syndrome + + + + CHDSKM + + @@ -305893,6 +369415,12 @@ microcephaly, short stature, and limb abnormalities microcephaly, short stature, and limb abnormalities + + + + MISSLA + + @@ -305904,6 +369432,12 @@ deafness, autosomal dominant 71 deafness, autosomal dominant 71 + + + + DFNA71 + + @@ -305927,6 +369461,12 @@ deafness, autosomal dominant 72 deafness, autosomal dominant 72 + + + + DFNA72 + + @@ -305950,6 +369490,12 @@ amelogenesis imperfecta, type 3b amelogenesis imperfecta, type 3b + + + + AI3B + + @@ -305976,6 +369522,12 @@ ALPK3 + + + + ALPK3 + + @@ -305999,6 +369551,12 @@ nephrotic syndrome, type 15 nephrotic syndrome, type 15 + + + + NPHS15 + + @@ -306022,6 +369580,12 @@ polycystic kidney disease 5 polycystic kidney disease 5 + + + + PKD5 + + @@ -306046,6 +369610,12 @@ ARMC9 + + + + ARMC9 + + @@ -306069,6 +369639,12 @@ multiple mitochondrial dysfunctions syndrome 5 multiple mitochondrial dysfunctions syndrome 5 + + + + MMDS5 + + @@ -306092,6 +369668,12 @@ skraban-deardorff syndrome skraban-deardorff syndrome + + + + SKDEAS + + @@ -306118,6 +369700,12 @@ TOGARAM1 + + + + TOGARAM1 + + @@ -306143,6 +369731,12 @@ MSTO1 + + + + MSTO1 + + @@ -306166,6 +369760,12 @@ joubert syndrome 30 joubert syndrome 30 + + + + JBTS30 + + @@ -306179,6 +369779,12 @@ ggf5 fibromatosis, gingival, 5 + + + + GINGF5 + + @@ -306202,6 +369808,12 @@ schizophrenia 19 with or without an affective disorder schizophrenia 19 + + + + SCZD19 + + @@ -306226,6 +369838,12 @@ IQCE + + + + IQCE + + @@ -306249,6 +369867,12 @@ spinocerebellar ataxia, autosomal recessive 26 spinocerebellar ataxia, autosomal recessive 26 + + + + SCAR26 + + @@ -306273,6 +369897,12 @@ mental retardation, autosomal dominant 47 intellectual developmental disorder, autosomal dominant 47 + + + + MRD47 + + @@ -306296,6 +369926,12 @@ deafness, autosomal recessive 106 deafness, autosomal recessive 106 + + + + DFNB106 + + @@ -306308,6 +369944,12 @@ immunodeficiency 11b with atopic dermatitis immunodeficiency 11b with atopic dermatitis + + + + IMD11B + + @@ -306331,6 +369973,12 @@ deafness, autosomal recessive 107 deafness, autosomal recessive 107 + + + + DFNB107 + + @@ -306353,6 +370001,12 @@ congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay + + + + CAKUTHED + + @@ -306376,6 +370030,12 @@ polydactyly, postaxial, type a7 polydactyly, postaxial, type a7 + + + + PAPA7 + + @@ -306386,6 +370046,12 @@ cerebellar atrophy, developmental delay, and seizures cerebellar atrophy, developmental delay, and seizures + + + + CADEDS + + @@ -306409,6 +370075,12 @@ spermatogenic failure 21 spermatogenic failure 21 + + + + SPGF21 + + @@ -306432,6 +370104,12 @@ deafness, autosomal recessive 108 deafness, autosomal recessive 108 + + + + DFNB108 + + @@ -306457,6 +370135,12 @@ SQOR + + + + SQOR + + @@ -306480,6 +370164,12 @@ LIPT2 + + + + LIPT2 + + @@ -306505,6 +370195,12 @@ vertebral, cardiac, renal, and limb defects syndrome 1 vertebral, cardiac, renal, and limb defects syndrome 1 + + + + VCRL1 + + @@ -306518,6 +370214,12 @@ vertebral, cardiac, renal, and limb defects syndrome 2 vertebral, cardiac, renal, and limb defects syndrome 2 + + + + VCRL2 + + @@ -306540,6 +370242,12 @@ joint laxity, short stature, and myopia joint laxity, short stature, and myopia + + + + JLSM + + @@ -306551,6 +370259,12 @@ deafness, autosomal dominant 73 deafness, autosomal dominant 73 + + + + DFNA73 + + @@ -306574,6 +370288,12 @@ combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency 32 + + + + COXPD32 + + @@ -306598,6 +370318,12 @@ epileptic encephalopathy, early infantile, 56 developmental and epileptic encephalopathy 56 + + + + DEE56 + + @@ -306609,6 +370335,12 @@ fraser syndrome 2 fraser syndrome 2 + + + + FRASRS2 + + @@ -306632,6 +370364,12 @@ fraser syndrome 3 fraser syndrome 3 + + + + FRASRS3 + + @@ -306655,6 +370393,12 @@ lipoyltransferase 2 deficiency encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities + + + + NELABA + + @@ -306677,6 +370421,12 @@ encephalopathy, progressive, early-onset, with brain atrophy and spasticity encephalopathy, progressive, early-onset, with brain atrophy and spasticity + + + + PEBAS + + @@ -306705,6 +370455,12 @@ meiosis-specific protein with ob domains MEIOB + + + + MEIOB + + @@ -306728,6 +370484,12 @@ hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia helix syndrome + + + + HELIX + + @@ -306750,6 +370512,12 @@ neurodegeneration, childhood-onset, with brain atrophy neurodegeneration, childhood-onset, with brain atrophy + + + + CONDBA + + @@ -306772,6 +370540,12 @@ myopathy, mitochondrial, and ataxia myopathy, mitochondrial, and ataxia + + + + MMYAT + + @@ -306795,6 +370569,12 @@ blepharocheilodontic syndrome 2 blepharocheilodontic syndrome 2 + + + + BCDS2 + + @@ -306818,6 +370598,12 @@ pilarowski-bjornsson syndrome pilarowski-bjornsson syndrome + + + + PILBOS + + @@ -306829,6 +370615,12 @@ pituitary adenoma 3, multiple types pituitary adenoma 3, multiple types + + + + PITA3 + + @@ -306852,6 +370644,12 @@ TBC1D23 + + + + TBC1D23 + + @@ -306863,6 +370661,12 @@ ovarian dysgenesis 5 ovarian dysgenesis 5 + + + + ODG5 + + @@ -306874,6 +370678,12 @@ spinocerebellar ataxia 44 spinocerebellar ataxia 44 + + + + SCA44 + + @@ -306897,6 +370707,12 @@ growth retardation, spine malformation, dysmorphic facies, and developmental delay al kaissi syndrome + + + + ALKAS + + @@ -306920,6 +370736,12 @@ pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia, type 11 + + + + PCH11 + + @@ -306943,6 +370765,12 @@ MGCA9 3-methylglutaconic aciduria, type 9 + + + + MGCA9 + + @@ -306954,6 +370782,12 @@ spermatogenic failure 22 spermatogenic failure 22 + + + + SPGF22 + + @@ -306977,6 +370811,12 @@ spermatogenic failure 23 spermatogenic failure 23 + + + + SPGF23 + + @@ -306999,6 +370839,12 @@ neurodevelopmental disorder with microcephaly, ataxia, and seizures neurodevelopmental disorder with microcephaly, ataxia, and seizures + + + + NEDMAS + + @@ -307009,6 +370855,12 @@ neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures + + + + NEMMLAS + + @@ -307021,6 +370873,12 @@ epileptic encephalopathy, infantile or early childhood, 1 developmental and epileptic encephalopathy 91 + + + + DEE91 + + @@ -307045,6 +370903,12 @@ oocyte/zygote/embryo maturation arrest 3 oocyte/zygote/embryo maturation arrest 3 + + + + OZEMA3 + + @@ -307068,6 +370932,12 @@ combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency 33 + + + + COXPD33 + + @@ -307080,6 +370950,12 @@ multiple mitochondrial dysfunctions syndrome 9a auditory neuropathy and optic atrophy + + + + ANOA + + @@ -307104,6 +370980,12 @@ platelet abnormalities with eosinophilia and immune-mediated inflammatory disease immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia + + + + IMD71 + + @@ -307115,6 +370997,12 @@ epiphyseal dysplasia, multiple, 7 epiphyseal dysplasia, multiple, 7 + + + + EDM7 + + @@ -307128,6 +371016,12 @@ neuropathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, autosomal dominant 9 + + + + HMND9 + + @@ -307152,6 +371046,12 @@ CEP295 + + + + CEP295 + + @@ -307175,6 +371075,12 @@ galloway-mowat syndrome 3 galloway-mowat syndrome 3 + + + + GAMOS3 + + @@ -307198,6 +371104,12 @@ galloway-mowat syndrome 4 galloway-mowat syndrome 4 + + + + GAMOS4 + + @@ -307221,6 +371133,12 @@ galloway-mowat syndrome 5 galloway-mowat syndrome 5 + + + + GAMOS5 + + @@ -307243,6 +371161,12 @@ facial palsy, congenital, with ptosis and velopharyngeal dysfunction facial palsy, congenital, with ptosis and velopharyngeal dysfunction + + + + FPVEPD + + @@ -307267,6 +371191,12 @@ oocyte/zygote/embryo maturation arrest 4 oocyte/zygote/embryo maturation arrest 4 + + + + OZEMA4 + + @@ -307289,6 +371219,12 @@ immunodeficiency, developmental delay, and hypohomocysteinemia immunodeficiency, developmental delay, and hypohomocysteinemia + + + + IMDDHH + + @@ -307299,6 +371235,12 @@ sweeney-cox syndrome sweeney-cox syndrome + + + + SWCOS + + @@ -307335,6 +371277,12 @@ mental retardation, autosomal dominant 48 intellectual developmental disorder, autosomal dominant 48 + + + + MRD48 + + @@ -307359,6 +371307,12 @@ mental retardation, autosomal dominant 49, formerly clark-baraitser syndrome + + + + CLABARS + + @@ -307369,6 +371323,12 @@ neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies + + + + NEDDFL + + @@ -307380,6 +371340,12 @@ erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia variabilis et progressiva 5 + + + + EKVP5 + + @@ -307391,6 +371357,12 @@ joubert syndrome 32 joubert syndrome 32 + + + + JBTS32 + + @@ -307402,6 +371374,12 @@ myopathy, centronuclear, 6, with fiber-type disproportion myopathy, centronuclear, 6, with fiber-type disproportion + + + + CNM6 + + @@ -307413,6 +371391,12 @@ joubert syndrome 31 joubert syndrome 31 + + + + JBTS31 + + @@ -307435,6 +371419,12 @@ leukodystrophy, progressive, early childhood-onset leukodystrophy, progressive, early childhood-onset + + + + PLDECO + + @@ -307457,6 +371447,12 @@ short stature, hearing loss, retinitis pigmentosa, and distinctive facies short stature, hearing loss, retinitis pigmentosa, and distinctive facies + + + + SHRF + + @@ -307480,6 +371476,12 @@ immunodeficiency, common variable, 14 immunodeficiency, common variable, 14 + + + + CVID14 + + @@ -307503,6 +371505,12 @@ joubert syndrome 33 joubert syndrome 33 + + + + JBTS33 + + @@ -307526,6 +371534,12 @@ kleefstra syndrome 2 kleefstra syndrome 2 + + + + KLEFS2 + + @@ -307549,6 +371563,12 @@ spinocerebellar ataxia 45 spinocerebellar ataxia 45 + + + + SCA45 + + @@ -307573,6 +371593,12 @@ spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy spinocerebellar ataxia 46 + + + + SCA46 + + @@ -307597,6 +371623,12 @@ epileptic encephalopathy, early infantile, 57 developmental and epileptic encephalopathy 57 + + + + DEE57 + + @@ -307608,6 +371640,12 @@ deafness, autosomal dominant 34, with or without inflammation deafness, autosomal dominant 34, with or without inflammation + + + + DFNA34 + + @@ -307633,6 +371671,12 @@ mental retardation, autosomal recessive 61 intellectual developmental disorder, autosomal recessive 61 + + + + MRT61 + + @@ -307658,6 +371702,12 @@ TXNDC15 + + + + TXNDC15 + + @@ -307669,6 +371719,12 @@ methylenetetrahydrofolate dehydrogenase 1 deficiency combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia + + + + CIMAH + + @@ -307680,6 +371736,12 @@ retinitis pigmentosa 80 retinitis pigmentosa 80 + + + + RP80 + + @@ -307711,6 +371773,12 @@ kiaa1772 GREB1L + + + + GREB1L + + @@ -307722,6 +371790,12 @@ nephrotic syndrome, type 16 nephrotic syndrome, type 16 + + + + NPHS16 + + @@ -307745,6 +371819,12 @@ fanconi anemia, complementation group w fanconi anemia, complementation group w + + + + FANCW + + @@ -307769,6 +371849,12 @@ mental retardation, autosomal dominant 50 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities + + + + MRD50 + + @@ -307793,6 +371879,12 @@ mental retardation, autosomal dominant 51 intellectual developmental disorder, autosomal dominant 51 + + + + MRD51 + + @@ -307817,6 +371909,12 @@ mental retardation, autosomal dominant 52 intellectual developmental disorder, autosomal dominant 52 + + + + MRD52 + + @@ -307829,6 +371927,12 @@ mental retardation, autosomal dominant 53 intellectual developmental disorder, autosomal dominant 53 + + + + MRD53 + + @@ -307853,6 +371957,12 @@ mental retardation, autosomal dominant 54 intellectual developmental disorder, autosomal dominant 54 + + + + MRD54 + + @@ -307864,6 +371974,12 @@ microcephaly 19, primary, autosomal recessive microcephaly 19, primary, autosomal recessive + + + + MCPH19 + + @@ -307886,6 +372002,12 @@ neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy + + + + NDMSCA + + @@ -307908,6 +372030,12 @@ neurodevelopmental disorder with variable motor and language impairment neurodevelopmental disorder with variable motor and language impairment + + + + NEDMIAL + + @@ -307919,6 +372047,12 @@ renal hypodysplasia/aplasia 3 renal hypodysplasia/aplasia 3 + + + + RHDA3 + + @@ -307941,6 +372075,12 @@ neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter + + + + NDAGSCW + + @@ -307965,6 +372105,12 @@ coffin-siris syndrome 6 coffin-siris syndrome 6 + + + + CSS6 + + @@ -307976,6 +372122,12 @@ geleophysic dysplasia 3 geleophysic dysplasia 3 + + + + GPHYSD3 + + @@ -307999,6 +372151,12 @@ glycosylphosphatidylinositol biosynthesis defect 15 glycosylphosphatidylinositol biosynthesis defect 15 + + + + GPIBD15 + + @@ -308023,6 +372181,12 @@ mental retardation, autosomal recessive 62 glycosylphosphatidylinositol biosynthesis defect 16 + + + + GPIBD16 + + @@ -308050,6 +372214,12 @@ TUBGCP2 + + + + TUBGCP2 + + @@ -308060,6 +372230,12 @@ neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive + + + + NDHMSR + + @@ -308073,6 +372249,12 @@ ehlers-danlos syndrome, type viib, autosomal dominant ehlers-danlos syndrome, arthrochalasia type, 2 + + + + EDSARTH2 + + @@ -308089,6 +372271,12 @@ alkuraya-kucinskas syndrome alkuraya-kucinskas syndrome + + + + ALKKUCS + + @@ -308114,6 +372302,12 @@ BRWD1 + + + + BRWD1 + + @@ -308137,6 +372331,12 @@ glucocorticoid deficiency 5 glucocorticoid deficiency 5 + + + + GCCD5 + + @@ -308160,6 +372360,12 @@ immunodeficiency 55 immunodeficiency 55 + + + + IMD55 + + @@ -308188,6 +372394,12 @@ ZFHX2 + + + + ZFHX2 + + @@ -308212,6 +372424,12 @@ epileptic encephalopathy, infantile or early childhood, 2 developmental and epileptic encephalopathy 92 + + + + DEE92 + + @@ -308224,6 +372442,12 @@ epileptic encephalopathy, early infantile, 58 developmental and epileptic encephalopathy 58 + + + + DEE58 + + @@ -308236,6 +372460,12 @@ mental retardation, autosomal dominant 55, with seizures intellectual developmental disorder, autosomal dominant 55, with seizures + + + + MRD55 + + @@ -308246,6 +372476,12 @@ developmental delay and seizures with or without movement abnormalities developmental delay and seizures with or without movement abnormalities + + + + DEDSM + + @@ -308257,6 +372493,12 @@ amyotrophic lateral sclerosis 23 amyotrophic lateral sclerosis 23 + + + + ALS23 + + @@ -308281,6 +372523,12 @@ TRIT1 + + + + TRIT1 + + @@ -308305,6 +372553,12 @@ SVBP + + + + SVBP + + @@ -308329,6 +372583,12 @@ mental retardation, autosomal dominant 56 intellectual developmental disorder, autosomal dominant 56 + + + + MRD56 + + @@ -308351,6 +372611,12 @@ neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy + + + + NEDMEBA + + @@ -308363,6 +372629,12 @@ mental retardation, autosomal dominant 69 intellectual developmental disorder, autosomal dominant 69 + + + + MRD69 + + @@ -308385,6 +372657,12 @@ neurodevelopmental disorder with or without seizures and gait abnormalities neurodevelopmental disorder with or without seizures and gait abnormalities + + + + NEDSGA + + @@ -308395,6 +372673,12 @@ neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features + + + + NEDMAGA + + @@ -308406,6 +372690,12 @@ short-rib thoracic dysplasia 18 with polydactyly short-rib thoracic dysplasia 18 with polydactyly + + + + SRTD18 + + @@ -308430,6 +372720,12 @@ NAF1 + + + + NAF1 + + @@ -308441,6 +372737,12 @@ retinitis pigmentosa 81 retinitis pigmentosa 81 + + + + RP81 + + @@ -308464,6 +372766,12 @@ combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency 34 + + + + COXPD34 + + @@ -308487,6 +372795,12 @@ combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency 35 + + + + COXPD35 + + @@ -308498,6 +372812,12 @@ polycystic liver disease 3 with or without kidney cysts polycystic liver disease 3 with or without kidney cysts + + + + PCLD3 + + @@ -308509,6 +372829,12 @@ polycystic liver disease 4 with or without kidney cysts polycystic liver disease 4 with or without kidney cysts + + + + PCLD4 + + @@ -308534,6 +372860,12 @@ RNU7-1 + + + + RNU7-1 + + @@ -308545,6 +372877,12 @@ short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 + + + + SSFSC1 + + @@ -308569,6 +372907,12 @@ TUBA3D + + + + TUBA3D + + @@ -308591,6 +372935,12 @@ leber congenital amaurosis with early-onset deafness leber congenital amaurosis with early-onset deafness + + + + LCAEOD + + @@ -308602,6 +372952,12 @@ charcot-marie-tooth disease, dominant intermediate g charcot-marie-tooth disease, dominant intermediate g + + + + CMTDIG + + @@ -308613,6 +372969,12 @@ fanconi anemia, complementation group s fanconi anemia, complementation group s + + + + FANCS + + @@ -308636,6 +372998,12 @@ obesity, susceptibility to body mass index quantitative trait locus 19 + + + + BMIQ19 + + @@ -308647,6 +373015,12 @@ amyotrophic lateral sclerosis, susceptibility to, 24 amyotrophic lateral sclerosis, susceptibility to, 24 + + + + ALS24 + + @@ -308670,6 +373044,12 @@ short-rib thoracic dysplasia 19 with or without polydactyly short-rib thoracic dysplasia 19 with or without polydactyly + + + + SRTD19 + + @@ -308681,6 +373061,12 @@ multiple synostoses syndrome 4 multiple synostoses syndrome 4 + + + + SYNS4 + + @@ -308704,6 +373090,12 @@ leukodystrophy, hypomyelinating, 14 leukodystrophy, hypomyelinating, 14 + + + + HLD14 + + @@ -308716,6 +373108,12 @@ herpes simplex encephalitis, susceptibility to, 6 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 + + + + IIAE8 + + @@ -308726,6 +373124,12 @@ neurodevelopmental disorder with poor language and loss of hand skills neurodevelopmental disorder with poor language and loss of hand skills + + + + NDPLHS + + @@ -308738,6 +373142,12 @@ epileptic encephalopathy, early infantile, 59 developmental and epileptic encephalopathy 59 + + + + DEE59 + + @@ -308749,6 +373159,12 @@ erythrocytosis, familial, 5 erythrocytosis, familial, 5 + + + + ECYT5 + + @@ -308772,6 +373188,12 @@ LSM11 + + + + LSM11 + + @@ -308782,6 +373204,12 @@ diamond-blackfan anemia-like diamond-blackfan anemia-like + + + + DBAL + + @@ -308804,6 +373232,12 @@ congenital heart defects, multiple types, 5 congenital heart defects, multiple types, 5 + + + + CHTD5 + + @@ -308826,6 +373260,12 @@ neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities + + + + NEDMCR + + @@ -308837,6 +373277,12 @@ microcephaly 20, primary, autosomal recessive microcephaly 20, primary, autosomal recessive + + + + MCPH20 + + @@ -308859,6 +373305,12 @@ hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome + + + + HADDTS + + @@ -308882,6 +373334,12 @@ neurodegeneration with brain iron accumulation 7 neurodegeneration with brain iron accumulation 7 + + + + NBIA7 + + @@ -308905,6 +373363,12 @@ neurodegeneration with brain iron accumulation 8 neurodegeneration with brain iron accumulation 8 + + + + NBIA8 + + @@ -308929,6 +373393,12 @@ amyloidosis, primary localized cutaneous, 3 amyloidosis, primary localized cutaneous, 3 + + + + PLCA3 + + @@ -308940,6 +373410,12 @@ amyotrophic lateral sclerosis, susceptibility to, 25 amyotrophic lateral sclerosis, susceptibility to, 25 + + + + ALS25 + + @@ -308970,6 +373446,12 @@ gpa GYPA + + + + GYPA + + @@ -309000,6 +373482,12 @@ gpb GYPB + + + + GYPB + + @@ -309011,6 +373499,12 @@ epilepsy, juvenile myoclonic, susceptibility to, 10 epilepsy, juvenile myoclonic, susceptibility to, 10 + + + + EJM10 + + @@ -309022,6 +373516,12 @@ short-rib thoracic dysplasia 20 with polydactyly short-rib thoracic dysplasia 20 with polydactyly + + + + SRTD20 + + @@ -309035,6 +373535,12 @@ orofaciodigital syndrome 17 orofaciodigital syndrome 17 + + + + OFD17 + + @@ -309060,6 +373566,12 @@ orofaciodigital syndrome 18 orofaciodigital syndrome 18 + + + + OFD18 + + @@ -309083,6 +373595,12 @@ keratoconus 9 keratoconus 9 + + + + KTCN9 + + @@ -309107,6 +373625,12 @@ epileptic encephalopathy, early infantile, 60 developmental and epileptic encephalopathy 60 + + + + DEE60 + + @@ -309134,6 +373658,12 @@ spinocerebellar ataxia 47 spinocerebellar ataxia 47 + + + + SCA47 + + @@ -309158,6 +373688,12 @@ epileptic encephalopathy, early infantile, 61 developmental and epileptic encephalopathy 61 + + + + DEE61 + + @@ -309169,6 +373705,12 @@ epilepsy, familial focal, with variable foci 4 epilepsy, familial focal, with variable foci 4 + + + + FFEVF4 + + @@ -309186,6 +373728,12 @@ This term has one or more labels that end with ', INCLUDED'. butyrylcholinesterase deficiency + + + + BCHED + + @@ -309198,6 +373746,12 @@ epileptic encephalopathy, early infantile, 62 developmental and epileptic encephalopathy 62 + + + + DEE62 + + @@ -309221,6 +373775,12 @@ shwachman-diamond syndrome 2 shwachman-diamond syndrome 2 + + + + SDS2 + + @@ -309246,6 +373806,12 @@ ERGIC1 + + + + ERGIC1 + + @@ -309258,6 +373824,12 @@ This term has one or more labels that end with ', INCLUDED'. elliptocytosis 3 + + + + EL3 + + @@ -309282,6 +373854,12 @@ CFAP69 + + + + CFAP69 + + @@ -309305,6 +373883,12 @@ combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency 36 + + + + COXPD36 + + @@ -309328,6 +373912,12 @@ leukodystrophy, hypomyelinating, 15 leukodystrophy, hypomyelinating, 15 + + + + HLD15 + + @@ -309351,6 +373941,12 @@ osteogenesis imperfecta, type 18 osteogenesis imperfecta, type 18 + + + + OI18 + + @@ -309384,6 +373980,12 @@ multiple mitochondrial dysfunctions syndrome 6 multiple mitochondrial dysfunctions syndrome 6 + + + + MMDS6 + + @@ -309407,6 +374009,12 @@ beta-glucopyranoside tasting beta-glucopyranoside tasting + + + + BGLPT + + @@ -309430,6 +374038,12 @@ spermatogenic failure 24 spermatogenic failure 24 + + + + SPGF24 + + @@ -309453,6 +374067,12 @@ spermatogenic failure 25 spermatogenic failure 25 + + + + SPGF25 + + @@ -309476,6 +374096,12 @@ spermatogenic failure 26 spermatogenic failure 26 + + + + SPGF26 + + @@ -309502,6 +374128,12 @@ TDRD9 + + + + TDRD9 + + @@ -309525,6 +374157,12 @@ leukodystrophy, hypomyelinating, 16 leukodystrophy, hypomyelinating, 16 + + + + HLD16 + + @@ -309548,6 +374186,12 @@ spermatogenic failure 27 spermatogenic failure 27 + + + + SPGF27 + + @@ -309560,6 +374204,12 @@ This term has one or more labels that end with ', INCLUDED'. low density lipoprotein cholesterol level quantitative trait locus 7 + + + + LDLCQ7 + + @@ -309572,6 +374222,12 @@ hydrocephalus, nonsyndromic, autosomal recessive 3, formerly hydrocephalus, congenital, 3, with brain anomalies + + + + HYC3 + + @@ -309594,6 +374250,12 @@ rh-null, amorph type rh-null, amorph type + + + + RHNA + + @@ -309622,6 +374284,12 @@ spondyloepimetaphyseal dysplasia, di rocco type spondyloepimetaphyseal dysplasia, di rocco type + + + + SEMDDR + + @@ -309646,6 +374314,12 @@ epileptic encephalopathy, early infantile, 63 developmental and epileptic encephalopathy 63 + + + + DEE63 + + @@ -309669,6 +374343,12 @@ neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures + + + + NEDSBAS + + @@ -309682,6 +374362,12 @@ polycythemia, beta-globin type erythrocytosis, familial, 6 + + + + ECYT6 + + @@ -309695,6 +374381,12 @@ polycythemia, alpha-globin type erythrocytosis, familial, 7 + + + + ECYT7 + + @@ -309717,6 +374409,12 @@ ververi-brady syndrome ververi-brady syndrome + + + + VERBRAS + + @@ -309740,6 +374438,12 @@ microcephaly 21, primary, autosomal recessive microcephaly 21, primary, autosomal recessive + + + + MCPH21 + + @@ -309763,6 +374467,12 @@ microcephaly 22, primary, autosomal recessive microcephaly 22, primary, autosomal recessive + + + + MCPH22 + + @@ -309786,6 +374496,12 @@ microcephaly 23, primary, autosomal recessive microcephaly 23, primary, autosomal recessive + + + + MCPH23 + + @@ -309813,6 +374529,12 @@ METTL13 + + + + METTL13 + + @@ -309836,6 +374558,12 @@ neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 2 jaberi-elahi syndrome + + + + JABELS + + @@ -309859,6 +374587,12 @@ developmental delay, intellectual disability, obesity, and dysmorphism chung-jansen syndrome + + + + CHUJANS + + @@ -309869,6 +374603,12 @@ deafness, congenital heart defects, and posterior embryotoxon deafness, congenital heart defects, and posterior embryotoxon + + + + DCHE + + @@ -309879,6 +374619,12 @@ tumoral calcinosis, hyperphosphatemic, familial, 2 tumoral calcinosis, hyperphosphatemic, familial, 2 + + + + HFTC2 + + @@ -309901,6 +374647,12 @@ tumoral calcinosis, hyperphosphatemic, familial, 3 tumoral calcinosis, hyperphosphatemic, familial, 3 + + + + HFTC3 + + @@ -309923,6 +374675,12 @@ impdh2 enzyme activity, variation 1n impdh2 enzyme activity, variation 1n + + + + IMPDH2V + + @@ -309947,6 +374705,12 @@ oocyte/zygote/embryo maturation arrest 5 oocyte/zygote/embryo maturation arrest 5 + + + + OZEMA5 + + @@ -309970,6 +374734,12 @@ ehlers-danlos syndrome, classic-like, 2 ehlers-danlos syndrome, classic-like, 2 + + + + EDSCLL2 + + @@ -309981,6 +374751,12 @@ deafness, autosomal recessive 57 deafness, autosomal recessive 57 + + + + DFNB57 + + @@ -310005,6 +374781,12 @@ epileptic encephalopathy, early infantile, 64 developmental and epileptic encephalopathy 64 + + + + DEE64 + + @@ -310029,6 +374811,12 @@ congenital disorder of glycosylation with defective fucosylation 1 congenital disorder of glycosylation with defective fucosylation 1 + + + + CDGF1 + + @@ -310052,6 +374840,12 @@ leukodystrophy, hypomyelinating, 17 leukodystrophy, hypomyelinating, 17 + + + + HLD17 + + @@ -310085,6 +374879,12 @@ epileptic encephalopathy, early infantile, 65 developmental and epileptic encephalopathy 65 + + + + DEE65 + + @@ -310109,6 +374909,12 @@ mental retardation, autosomal dominant 61 intellectual developmental disorder, autosomal dominant 61 + + + + MRD61 + + @@ -310131,6 +374937,12 @@ glycosylphosphatidylinositol biosynthesis defect 17 glycosylphosphatidylinositol biosynthesis defect 17 + + + + GPIBD17 + + @@ -310154,6 +374966,12 @@ hyperekplexia 4 hyperekplexia 4 + + + + HKPX4 + + @@ -310165,6 +374983,12 @@ developmental and epileptic encephalopathy 93 developmental and epileptic encephalopathy 93 + + + + DEE93 + + @@ -310188,6 +375012,12 @@ deafness, autosomal recessive 109 deafness, autosomal recessive 109 + + + + DFNB109 + + @@ -310211,6 +375041,12 @@ premature ovarian failure 14 premature ovarian failure 14 + + + + POF14 + + @@ -310234,6 +375070,12 @@ protoporphyria, erythropoietic, 2 protoporphyria, erythropoietic, 2 + + + + EPP2 + + @@ -310260,6 +375102,12 @@ RNPC3 + + + + RNPC3 + + @@ -310293,6 +375141,12 @@ rhizomelic skeletal dysplasia with or without pelger-huet anomaly rhizomelic skeletal dysplasia with or without pelger-huet anomaly + + + + SKPHA + + @@ -310305,6 +375159,12 @@ tetraamelia syndrome 2 with pulmonary agenesis tetraamelia syndrome 2 + + + + TETAMS2 + + @@ -310316,6 +375176,12 @@ humerofemoral hypoplasia with radiotibial ray deficiency humerofemoral hypoplasia with radiotibial ray deficiency + + + + HHRRD + + @@ -310351,6 +375217,12 @@ notch2 n-terminal-like protein c NOTCH2NLC + + + + NOTCH2NLC + + @@ -310362,6 +375234,12 @@ notch2 n-terminal-like-related, pseudogene notch2 n-terminal-like r + + + + NOTCH2NLR + + @@ -310386,6 +375264,12 @@ coffin-siris syndrome 7 coffin-siris syndrome 7 + + + + CSS7 + + @@ -310397,6 +375281,12 @@ corneal dystrophy, posterior polymorphous, 4 corneal dystrophy, posterior polymorphous, 4 + + + + PPCD4 + + @@ -310409,6 +375299,12 @@ charcot-marie-tooth neuropathy, type 2dd charcot-marie-tooth disease, axonal, type 2dd + + + + CMT2DD + + @@ -310435,6 +375331,12 @@ SHOC1 + + + + SHOC1 + + @@ -310459,6 +375361,12 @@ pulmonary alveolar proteinosis with hypogammaglobulinemia immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia + + + + IMD100 + + @@ -310470,6 +375378,12 @@ proteasome-associated autoinflammatory syndrome 2 proteasome-associated autoinflammatory syndrome 2 + + + + PRAAS2 + + @@ -310495,6 +375409,12 @@ parkinsonism-dystonia 2, infantile-onset parkinsonism-dystonia 2, infantile-onset + + + + PKDYS2 + + @@ -310519,6 +375439,12 @@ mental retardation, autosomal dominant 57 intellectual developmental disorder, autosomal dominant 57 + + + + MRD57 + + @@ -310543,6 +375469,12 @@ INAVA + + + + INAVA + + @@ -310566,6 +375498,12 @@ cardiomyopathy, familial hypertrophic, 27 cardiomyopathy, familial hypertrophic, 27 + + + + CMH27 + + @@ -310576,6 +375514,12 @@ neurodevelopmental disorder with cerebellar atrophy and with or without seizures neurodevelopmental disorder with cerebellar atrophy and with or without seizures + + + + NEDCAS + + @@ -310624,6 +375568,12 @@ CFAP300 + + + + CFAP300 + + @@ -310646,6 +375596,12 @@ intellectual developmental disorder with or without epilepsy or cerebellar ataxia intellectual developmental disorder with or without epilepsy or cerebellar ataxia + + + + IDDECA + + @@ -310669,6 +375625,12 @@ polycystic kidney disease 6 with or without polycystic liver disease polycystic kidney disease 6 with or without polycystic liver disease + + + + PKD6 + + @@ -310693,6 +375655,12 @@ ciliary dyskinesia, primary, 38, with or without situs inversus ciliary dyskinesia, primary, 38 + + + + CILD38 + + @@ -310717,6 +375685,12 @@ COX16 + + + + COX16 + + @@ -310740,6 +375714,12 @@ pontocerebellar hypoplasia, type 1d pontocerebellar hypoplasia, type 1d + + + + PCH1D + + @@ -310764,6 +375744,12 @@ epileptic encephalopathy, early infantile, 66 developmental and epileptic encephalopathy 66 + + + + DEE66 + + @@ -310788,6 +375774,12 @@ SAMD12 + + + + SAMD12 + + @@ -310813,6 +375805,12 @@ epilepsy, familial adult myoclonic, 6 epilepsy, familial adult myoclonic, 6 + + + + FAME6 + + @@ -310838,6 +375836,12 @@ epilepsy, familial adult myoclonic, 7 epilepsy, familial adult myoclonic, 7 + + + + FAME7 + + @@ -310860,6 +375864,12 @@ neurodevelopmental disorder with spasticity and poor growth neurodevelopmental disorder with spasticity and poor growth + + + + NEDSG + + @@ -310883,6 +375893,12 @@ inflammatory bowel disease 29 inflammatory bowel disease 29 + + + + IBD29 + + @@ -310894,6 +375910,12 @@ ovarian dysgenesis 6 ovarian dysgenesis 6 + + + + ODG6 + + @@ -310916,6 +375938,12 @@ low density lipoprotein cholesterol level quantitative trait locus 8 low density lipoprotein cholesterol level quantitative trait locus 8 + + + + LDLCQ8 + + @@ -310941,6 +375969,12 @@ WBP11 + + + + WBP11 + + @@ -310964,6 +375998,12 @@ peeling skin syndrome 6 peeling skin syndrome 6 + + + + PSS6 + + @@ -310989,6 +376029,12 @@ PMFBP1 + + + + PMFBP1 + + @@ -311000,6 +376046,12 @@ spermatogenic failure 28 spermatogenic failure 28 + + + + SPGF28 + + @@ -311010,6 +376062,12 @@ spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits + + + + SCA42ND + + @@ -311032,6 +376090,12 @@ neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures + + + + NEDAMSS + + @@ -311054,6 +376118,12 @@ intellectual developmental disorder with dysmorphic facies and behavioral abnormalities intellectual developmental disorder with dysmorphic facies and behavioral abnormalities + + + + IDDFBA + + @@ -311076,6 +376146,12 @@ neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum + + + + NEDEHCC + + @@ -311099,6 +376175,12 @@ spermatogenic failure 29 spermatogenic failure 29 + + + + SPGF29 + + @@ -311109,6 +376191,12 @@ intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities + + + + IDDSFTA + + @@ -311120,6 +376208,12 @@ spinocerebellar ataxia 48 spinocerebellar ataxia 48 + + + + SCA48 + + @@ -311131,6 +376225,12 @@ deafness, autosomal recessive 110 deafness, autosomal recessive 110 + + + + DFNB110 + + @@ -311143,6 +376243,12 @@ mental retardation, autosomal recessive 63 intellectual developmental disorder, autosomal recessive 63 + + + + MRT63 + + @@ -311154,6 +376260,12 @@ premature ovarian failure 15 premature ovarian failure 15 + + + + POF15 + + @@ -311165,6 +376277,12 @@ microcephaly, growth restriction, and increased sister chromatid exchange 2 microcephaly, growth restriction, and increased sister chromatid exchange 2 + + + + MGRISCE2 + + @@ -311177,6 +376295,12 @@ progressive external ophthalmoplegia, autosomal recessive 5 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 + + + + PEOB5 + + @@ -311201,6 +376325,12 @@ mental retardation, autosomal recessive 64 intellectual developmental disorder, autosomal recessive 64 + + + + MRT64 + + @@ -311225,6 +376355,12 @@ mental retardation, autosomal dominant 58 intellectual developmental disorder, autosomal dominant 58 + + + + MRD58 + + @@ -311236,6 +376372,12 @@ osteopetrosis, autosomal dominant 3 osteopetrosis, autosomal dominant 3 + + + + OPTA3 + + @@ -311247,6 +376389,12 @@ immunodeficiency 57 with autoinflammation immunodeficiency 57 with autoinflammation + + + + IMD57 + + @@ -311271,6 +376419,12 @@ mental retardation, autosomal recessive 65 intellectual developmental disorder, autosomal recessive 65 + + + + MRT65 + + @@ -311294,6 +376448,12 @@ spermatogenic failure 30 spermatogenic failure 30 + + + + SPGF30 + + @@ -311317,6 +376477,12 @@ spermatogenic failure 31 spermatogenic failure 31 + + + + SPGF31 + + @@ -311328,6 +376494,12 @@ encephalitis/encephalopathy, mild, with reversible splenial lesion encephalitis/encephalopathy, mild, with reversible myelin vacuolization + + + + MMERV + + @@ -311339,6 +376511,12 @@ liddle syndrome 2 liddle syndrome 2 + + + + LIDLS2 + + @@ -311350,6 +376528,12 @@ spermatogenic failure 32 spermatogenic failure 32 + + + + SPGF32 + + @@ -311373,6 +376557,12 @@ bone marrow failure syndrome 4 bone marrow failure syndrome 4 + + + + BMFS4 + + @@ -311384,6 +376574,12 @@ ovarian dysgenesis 7 ovarian dysgenesis 7 + + + + ODG7 + + @@ -311408,6 +376604,12 @@ mitochondrial complex 5 (atp synthase) deficiency, nuclear type 5 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 5 + + + + MC5DN5 + + @@ -311419,6 +376621,12 @@ polydactyly, postaxial, type a8 polydactyly, postaxial, type a8 + + + + PAPA8 + + @@ -311441,6 +376649,12 @@ peripheral neuropathy, autosomal recessive, with or without impaired intellectual development peripheral neuropathy, autosomal recessive, with or without impaired intellectual development + + + + PNRIID + + @@ -311470,6 +376684,12 @@ kash domain-containing protein 5 KASH5 + + + + KASH5 + + @@ -311481,6 +376701,12 @@ liddle syndrome 3 liddle syndrome 3 + + + + LIDLS3 + + @@ -311504,6 +376730,12 @@ GDAP2 + + + + GDAP2 + + @@ -311516,6 +376748,12 @@ muscular dystrophy, limb-girdle, type 1i muscular dystrophy, limb-girdle, autosomal dominant 4 + + + + LGMDD4 + + @@ -311539,6 +376777,12 @@ immunodeficiency 58 immunodeficiency 58 + + + + IMD58 + + @@ -311553,6 +376797,12 @@ muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 + + + + MDDGC8 + + @@ -311564,6 +376814,12 @@ muscular dystrophy, limb-girdle, autosomal recessive 23 muscular dystrophy, limb-girdle, autosomal recessive 23 + + + + LGMDR23 + + @@ -311587,6 +376843,12 @@ deafness, autosomal dominant 74 deafness, autosomal dominant 74 + + + + DFNA74 + + @@ -311611,6 +376873,12 @@ epileptic encephalopathy, early infantile, 67 developmental and epileptic encephalopathy 67 + + + + DEE67 + + @@ -311633,6 +376901,12 @@ microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome + + + + MFRG + + @@ -311657,6 +376931,12 @@ glycosylphosphatidylinositol biosynthesis defect 18 developmental and epileptic encephalopathy 95 + + + + DEE95 + + @@ -311680,6 +376960,12 @@ usher syndrome, type 4 usher syndrome, type 4 + + + + USH4 + + @@ -311703,6 +376989,12 @@ deafness, autosomal recessive 111 deafness, autosomal recessive 111 + + + + DFNB111 + + @@ -311727,6 +377019,12 @@ CFAP251 + + + + CFAP251 + + @@ -311751,6 +377049,12 @@ This term has one or more labels that end with ', INCLUDED'. intellectual developmental disorder with hypertelorism and distinctive facies + + + + IDDHDF + + @@ -311776,6 +377080,12 @@ mto deficiency extraoral halitosis due to methanethiol oxidase deficiency + + + + EHMTO + + @@ -311788,6 +377098,12 @@ orofacial cleft 8 orofacial cleft 8 + + + + OFC8 + + @@ -311799,6 +377115,12 @@ saul-wilson syndrome saul-wilson syndrome + + + + SWILS + + @@ -311822,6 +377144,12 @@ spermatogenic failure 33 spermatogenic failure 33 + + + + SPGF33 + + @@ -311845,6 +377173,12 @@ spermatogenic failure 34 spermatogenic failure 34 + + + + SPGF34 + + @@ -311868,6 +377202,12 @@ hennekam lymphangiectasia-lymphedema syndrome 3 hennekam lymphangiectasia-lymphedema syndrome 3 + + + + HKLLS3 + + @@ -311890,6 +377230,12 @@ ophthalmoplegia, external, with rib and vertebral anomalies ophthalmoplegia, external, with rib and vertebral anomalies + + + + EORVA + + @@ -311913,6 +377259,12 @@ squalene synthase deficiency squalene synthase deficiency + + + + SQSD + + @@ -311938,6 +377290,12 @@ isolated growth hormone deficiency, type ib, formerly isolated growth hormone deficiency, type 4 + + + + IGHD4 + + @@ -311960,6 +377318,12 @@ intellectual developmental disorder with macrocephaly, seizures, and speech delay intellectual developmental disorder with macrocephaly, seizures, and speech delay + + + + IDDMSSD + + @@ -311985,6 +377349,12 @@ PPP1R21 + + + + PPP1R21 + + @@ -312009,6 +377379,12 @@ pituitary hormone deficiency, combined or isolated, 7 pituitary hormone deficiency, combined or isolated, 7 + + + + CPHD7 + + @@ -312020,6 +377396,12 @@ joubert syndrome 35 joubert syndrome 35 + + + + JBTS35 + + @@ -312043,6 +377425,12 @@ spondyloepimetaphyseal dysplasia, krakow type spondyloepimetaphyseal dysplasia, krakow type + + + + SEMDK + + @@ -312067,6 +377455,12 @@ TMEM94 + + + + TMEM94 + + @@ -312089,6 +377483,12 @@ cardiac, facial, and digital anomalies with developmental delay cardiac, facial, and digital anomalies with developmental delay + + + + CAFDADD + + @@ -312100,6 +377500,12 @@ bone marrow failure syndrome 5 bone marrow failure syndrome 5 + + + + BMFS5 + + @@ -312122,6 +377528,12 @@ osteochondrodysplasia, brachydactyly, and overlapping malformed digits osteochondrodysplasia, brachydactyly, and overlapping malformed digits + + + + OCBMD + + @@ -312145,6 +377557,12 @@ diarrhea 9 diarrhea 9 + + + + DIAR9 + + @@ -312167,6 +377585,12 @@ neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures + + + + CONDSIAS + + @@ -312178,6 +377602,12 @@ retinitis pigmentosa 83 retinitis pigmentosa 83 + + + + RP83 + + @@ -312201,6 +377631,12 @@ cortical dysplasia, complex, with other brain malformations 9 cortical dysplasia, complex, with other brain malformations 9 + + + + CDCBM9 + + @@ -312211,6 +377647,12 @@ warburg-cinotti syndrome warburg-cinotti syndrome + + + + WRCN + + @@ -312234,6 +377676,12 @@ nephrotic syndrome, type 17 nephrotic syndrome, type 17 + + + + NPHS17 + + @@ -312245,6 +377693,12 @@ nephrotic syndrome, type 18 nephrotic syndrome, type 18 + + + + NPHS18 + + @@ -312268,6 +377722,12 @@ nephrotic syndrome, type 19 nephrotic syndrome, type 19 + + + + NPHS19 + + @@ -312291,6 +377751,12 @@ microcephaly 24, primary, autosomal recessive microcephaly 24, primary, autosomal recessive + + + + MCPH24 + + @@ -312302,6 +377768,12 @@ ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis + + + + ECTD14 + + @@ -312327,6 +377799,12 @@ ZBTB11 + + + + ZBTB11 + + @@ -312350,6 +377828,12 @@ orthostatic hypotension 2 orthostatic hypotension 2 + + + + ORTHYP2 + + @@ -312373,6 +377857,12 @@ diarrhea 10, protein-losing enteropathy type diarrhea 10, protein-losing enteropathy type + + + + DIAR10 + + @@ -312384,6 +377874,12 @@ neuropathy, congenital hypomyelinating, 2 neuropathy, congenital hypomyelinating, 2 + + + + CHN2 + + @@ -312407,6 +377903,12 @@ periventricular nodular heterotopia 8 periventricular nodular heterotopia 8 + + + + PVNH8 + + @@ -312418,6 +377920,12 @@ neuropathy, congenital hypomyelinating, 3 neuropathy, congenital hypomyelinating, 3 + + + + CHN3 + + @@ -312441,6 +377949,12 @@ ovarian dysgenesis 8 ovarian dysgenesis 8 + + + + ODG8 + + @@ -312464,6 +377978,12 @@ hyperparathyroidism, transient neonatal hyperparathyroidism, transient neonatal + + + + HRPTTN + + @@ -312487,6 +378007,12 @@ cardiomyopathy, dilated, 2c cardiomyopathy, dilated, 2c + + + + CMD2C + + @@ -312510,6 +378036,12 @@ polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 + + + + PLOSL2 + + @@ -312532,6 +378064,12 @@ intellectual developmental disorder and retinitis pigmentosa intellectual developmental disorder and retinitis pigmentosa + + + + IDDRP + + @@ -312543,6 +378081,12 @@ capillary malformation-arteriovenous malformation 2 capillary malformation-arteriovenous malformation 2 + + + + CMAVM2 + + @@ -312554,6 +378098,12 @@ myasthenic syndrome, congenital, 23, presynaptic myasthenic syndrome, congenital, 23, presynaptic + + + + CMS23 + + @@ -312577,6 +378127,12 @@ myasthenic syndrome, congenital, 24, presynaptic myasthenic syndrome, congenital, 24, presynaptic + + + + CMS24 + + @@ -312601,6 +378157,12 @@ epileptic encephalopathy, early infantile, 68 developmental and epileptic encephalopathy 68 + + + + DEE68 + + @@ -312625,6 +378187,12 @@ DNAJC30 + + + + DNAJC30 + + @@ -312648,6 +378216,12 @@ TMTC4 + + + + TMTC4 + + @@ -312659,6 +378233,12 @@ immunodeficiency 15a immunodeficiency 15a + + + + IMD15A + + @@ -312682,6 +378262,12 @@ snijders blok-campeau syndrome snijders blok-campeau syndrome + + + + SNIBCPS + + @@ -312707,6 +378293,12 @@ PITRM1 + + + + PITRM1 + + @@ -312717,6 +378309,12 @@ inflammatory bowel disease, immunodeficiency, and encephalopathy inflammatory bowel disease, immunodeficiency, and encephalopathy + + + + IBDIMDE + + @@ -312740,6 +378338,12 @@ neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram baker-gordon syndrome + + + + BAGOS + + @@ -312763,6 +378367,12 @@ polydactyly, postaxial, type a9 polydactyly, postaxial, type a9 + + + + PAPA9 + + @@ -312786,6 +378396,12 @@ retinitis pigmentosa 84 retinitis pigmentosa 84 + + + + RP84 + + @@ -312804,6 +378420,12 @@ mental retardation, autosomal recessive 66 intellectual developmental disorder, autosomal recessive 66 + + + + MRT66 + + @@ -312827,6 +378449,12 @@ mitochondrial complex 1 deficiency, nuclear type 2 mitochondrial complex 1 deficiency, nuclear type 2 + + + + MC1DN2 + + @@ -312849,6 +378477,12 @@ vertebral anomalies and variable endocrine and t-cell dysfunction vertebral anomalies and variable endocrine and t-cell dysfunction + + + + VETD + + @@ -312872,6 +378506,12 @@ mitochondrial complex 1 deficiency, nuclear type 3 mitochondrial complex 1 deficiency, nuclear type 3 + + + + MC1DN3 + + @@ -312895,6 +378535,12 @@ mitochondrial complex 1 deficiency, nuclear type 4 mitochondrial complex 1 deficiency, nuclear type 4 + + + + MC1DN4 + + @@ -312918,6 +378564,12 @@ mitochondrial complex 1 deficiency, nuclear type 5 mitochondrial complex 1 deficiency, nuclear type 5 + + + + MC1DN5 + + @@ -312941,6 +378593,12 @@ LRRC56 + + + + LRRC56 + + @@ -312952,6 +378610,12 @@ mitochondrial complex 1 deficiency, nuclear type 6 mitochondrial complex 1 deficiency, nuclear type 6 + + + + MC1DN6 + + @@ -312975,6 +378639,12 @@ mitochondrial complex 1 deficiency, nuclear type 7 mitochondrial complex 1 deficiency, nuclear type 7 + + + + MC1DN7 + + @@ -312998,6 +378668,12 @@ mitochondrial complex 1 deficiency, nuclear type 8 mitochondrial complex 1 deficiency, nuclear type 8 + + + + MC1DN8 + + @@ -313021,6 +378697,12 @@ epidermodysplasia verruciformis, susceptibility to, 2 epidermodysplasia verruciformis, susceptibility to, 2 + + + + EV2 + + @@ -313044,6 +378726,12 @@ mitochondrial complex 1 deficiency, nuclear type 9 mitochondrial complex 1 deficiency, nuclear type 9 + + + + MC1DN9 + + @@ -313067,6 +378755,12 @@ mitochondrial complex 1 deficiency, nuclear type 10 mitochondrial complex 1 deficiency, nuclear type 10 + + + + MC1DN10 + + @@ -313090,6 +378784,12 @@ mitochondrial complex 1 deficiency, nuclear type 11 mitochondrial complex 1 deficiency, nuclear type 11 + + + + MC1DN11 + + @@ -313113,6 +378813,12 @@ mitochondrial complex 1 deficiency, nuclear type 13 mitochondrial complex 1 deficiency, nuclear type 13 + + + + MC1DN13 + + @@ -313136,6 +378842,12 @@ mitochondrial complex 1 deficiency, nuclear type 14 mitochondrial complex 1 deficiency, nuclear type 14 + + + + MC1DN14 + + @@ -313159,6 +378871,12 @@ mitochondrial complex 1 deficiency, nuclear type 15 mitochondrial complex 1 deficiency, nuclear type 15 + + + + MC1DN15 + + @@ -313182,6 +378900,12 @@ mitochondrial complex 1 deficiency, nuclear type 16 mitochondrial complex 1 deficiency, nuclear type 16 + + + + MC1DN16 + + @@ -313193,6 +378917,12 @@ mitochondrial complex 1 deficiency, nuclear type 17 mitochondrial complex 1 deficiency, nuclear type 17 + + + + MC1DN17 + + @@ -313216,6 +378946,12 @@ mitochondrial complex 1 deficiency, nuclear type 18 mitochondrial complex 1 deficiency, nuclear type 18 + + + + MC1DN18 + + @@ -313239,6 +378975,12 @@ mitochondrial complex 1 deficiency, nuclear type 19 mitochondrial complex 1 deficiency, nuclear type 19 + + + + MC1DN19 + + @@ -313262,6 +379004,12 @@ mitochondrial complex 1 deficiency, nuclear type 21 mitochondrial complex 1 deficiency, nuclear type 21 + + + + MC1DN21 + + @@ -313285,6 +379033,12 @@ mitochondrial complex 1 deficiency, nuclear type 22 mitochondrial complex 1 deficiency, nuclear type 22 + + + + MC1DN22 + + @@ -313308,6 +379062,12 @@ mitochondrial complex 1 deficiency, nuclear type 23 mitochondrial complex 1 deficiency, nuclear type 23 + + + + MC1DN23 + + @@ -313331,6 +379091,12 @@ mitochondrial complex 1 deficiency, nuclear type 24 mitochondrial complex 1 deficiency, nuclear type 24 + + + + MC1DN24 + + @@ -313354,6 +379120,12 @@ mitochondrial complex 1 deficiency, nuclear type 25 mitochondrial complex 1 deficiency, nuclear type 25 + + + + MC1DN25 + + @@ -313377,6 +379149,12 @@ mitochondrial complex 1 deficiency, nuclear type 26 mitochondrial complex 1 deficiency, nuclear type 26 + + + + MC1DN26 + + @@ -313388,6 +379166,12 @@ mitochondrial complex 1 deficiency, nuclear type 27 mitochondrial complex 1 deficiency, nuclear type 27 + + + + MC1DN27 + + @@ -313399,6 +379183,12 @@ mitochondrial complex 1 deficiency, nuclear type 28 mitochondrial complex 1 deficiency, nuclear type 28 + + + + MC1DN28 + + @@ -313422,6 +379212,12 @@ mitochondrial complex 1 deficiency, nuclear type 29 mitochondrial complex 1 deficiency, nuclear type 29 + + + + MC1DN29 + + @@ -313445,6 +379241,12 @@ mitochondrial complex 1 deficiency, nuclear type 31 mitochondrial complex 1 deficiency, nuclear type 31 + + + + MC1DN31 + + @@ -313468,6 +379270,12 @@ mitochondrial complex 1 deficiency, nuclear type 32 mitochondrial complex 1 deficiency, nuclear type 32 + + + + MC1DN32 + + @@ -313491,6 +379299,12 @@ mitochondrial complex 1 deficiency, nuclear type 33 mitochondrial complex 1 deficiency, nuclear type 33 + + + + MC1DN33 + + @@ -313515,6 +379329,12 @@ ciliary dyskinesia, primary, 39, with or without situs inversus ciliary dyskinesia, primary, 39 + + + + CILD39 + + @@ -313540,6 +379360,12 @@ MYORG + + + + MYORG + + @@ -313572,6 +379398,12 @@ deafness, autosomal recessive 112 deafness, autosomal recessive 112 + + + + DFNB112 + + @@ -313596,6 +379428,12 @@ CCDC47 + + + + CCDC47 + + @@ -313620,6 +379458,12 @@ lymphoproliferative syndrome 3 lymphoproliferative syndrome 3 + + + + LPFS3 + + @@ -313643,6 +379487,12 @@ mirror movements 4 mirror movements 4 + + + + MRMV4 + + @@ -313653,6 +379503,12 @@ arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development + + + + ACCIID + + @@ -313664,6 +379520,12 @@ pontocerebellar hypoplasia, type 12 pontocerebellar hypoplasia, type 12 + + + + PCH12 + + @@ -313687,6 +379549,12 @@ epidermodysplasia verruciformis, susceptibility to, 3 epidermodysplasia verruciformis, susceptibility to, 3 + + + + EV3 + + @@ -313709,6 +379577,12 @@ trichohepatoneurodevelopmental syndrome trichohepatoneurodevelopmental syndrome + + + + THNS + + @@ -313732,6 +379606,12 @@ ZNF341 + + + + ZNF341 + + @@ -313755,6 +379635,12 @@ congenital anomalies of kidney and urinary tract 3 congenital anomalies of kidney and urinary tract 3 + + + + CAKUT3 + + @@ -313766,6 +379652,12 @@ glow syndrome global developmental delay, lung cysts, overgrowth, and wilms tumor + + + + GLOW + + @@ -313788,6 +379680,12 @@ mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations + + + + MCCCHCM + + @@ -313799,6 +379697,12 @@ hypotrichosis 14 hypotrichosis 14 + + + + HYPT14 + + @@ -313821,6 +379725,12 @@ neurodegeneration, childhood-onset, with cerebellar atrophy neurodegeneration, childhood-onset, with cerebellar atrophy + + + + CONDCA + + @@ -313844,6 +379754,12 @@ NHLRC2 + + + + NHLRC2 + + @@ -313866,6 +379782,12 @@ fibrosis, neurodegeneration, and cerebral angiomatosis fibrosis, neurodegeneration, and cerebral angiomatosis + + + + FINCA + + @@ -313889,6 +379811,12 @@ charcot-marie-tooth disease, demyelinating, type 1g charcot-marie-tooth disease, demyelinating, type 1g + + + + CMT1G + + @@ -313899,6 +379827,12 @@ cardiac-urogenital syndrome cardiac-urogenital syndrome + + + + CUGS + + @@ -313923,6 +379857,12 @@ hyper-ige syndrome 3, autosomal recessive, with recurrent infections hyper-ige syndrome 3, autosomal recessive, with recurrent infections + + + + HIES3 + + @@ -313945,6 +379885,12 @@ visual impairment and progressive phthisis bulbi visual impairment and progressive phthisis bulbi + + + + VIPB + + @@ -313967,6 +379913,12 @@ microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum + + + + MCIDDS + + @@ -313991,6 +379943,12 @@ epileptic encephalopathy, early infantile, 69 developmental and epileptic encephalopathy 69 + + + + DEE69 + + @@ -314014,6 +379972,12 @@ macrocephaly, acquired, with mental retardation macrocephaly, acquired, with impaired intellectual development + + + + MACID + + @@ -314038,6 +380002,12 @@ mucocutaneous ulceration, chronic autoinflammatory disease, familial, behcet-like 3 + + + + AIFBL3 + + @@ -314049,6 +380019,12 @@ spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant + + + + SMALED2B + + @@ -314071,6 +380047,12 @@ neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia + + + + NEDIDHA + + @@ -314095,6 +380077,12 @@ mental retardation, autosomal recessive 67 intellectual developmental disorder, autosomal recessive 67 + + + + MRT67 + + @@ -314119,6 +380107,12 @@ epileptic encephalopathy, early infantile, 70 developmental and epileptic encephalopathy 70 + + + + DEE70 + + @@ -314150,6 +380144,12 @@ st7 LRP12 + + + + LRP12 + + @@ -314174,6 +380174,12 @@ ciliary dyskinesia, primary, 40, with or without situs inversus ciliary dyskinesia, primary, 40 + + + + CILD40 + + @@ -314198,6 +380204,12 @@ mental retardation, autosomal recessive 68 intellectual developmental disorder, autosomal recessive 68 + + + + MRT68 + + @@ -314221,6 +380233,12 @@ QRICH2 + + + + QRICH2 + + @@ -314244,6 +380262,12 @@ epidermodysplasia verruciformis, susceptibility to, 4 epidermodysplasia verruciformis, susceptibility to, 4 + + + + EV4 + + @@ -314267,6 +380291,12 @@ epidermodysplasia verruciformis, susceptibility to, 5 epidermodysplasia verruciformis, susceptibility to, 5 + + + + EV5 + + @@ -314290,6 +380320,12 @@ diamond-blackfan anemia 18 diamond-blackfan anemia 18 + + + + DBA18 + + @@ -314313,6 +380349,12 @@ diamond-blackfan anemia 19 diamond-blackfan anemia 19 + + + + DBA19 + + @@ -314336,6 +380378,12 @@ diamond-blackfan anemia 20 diamond-blackfan anemia 20 + + + + DBA20 + + @@ -314347,6 +380395,12 @@ hypomagnesemia, seizures, and impaired intellectual development 2 hypomagnesemia, seizures, and impaired intellectual development 2 + + + + HOMGSMR2 + + @@ -314370,6 +380424,12 @@ RPL35 + + + + RPL35 + + @@ -314392,6 +380452,12 @@ intellectual developmental disorder with cardiac defects and dysmorphic facies intellectual developmental disorder with cardiac defects and dysmorphic facies + + + + IDDCDF + + @@ -314415,6 +380481,12 @@ basal ganglia calcification, idiopathic, 7, autosomal recessive basal ganglia calcification, idiopathic, 7, autosomal recessive + + + + IBGC7 + + @@ -314440,6 +380512,12 @@ PRDM10 + + + + PRDM10 + + @@ -314463,6 +380541,12 @@ encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 + + + + PEBEL2 + + @@ -314474,6 +380558,12 @@ myasthenic syndrome, congenital, 25, presynaptic myasthenic syndrome, congenital, 25, presynaptic + + + + CMS25 + + @@ -314497,6 +380587,12 @@ congenital disorder of glycosylation with defective fucosylation 2 congenital disorder of glycosylation with defective fucosylation 2 + + + + CDGF2 + + @@ -314520,6 +380616,12 @@ lissencephaly 9 with complex brainstem malformation lissencephaly 9 with complex brainstem malformation + + + + LIS9 + + @@ -314533,6 +380635,12 @@ glutaminase deficiency with neonatal epileptic encephalopathy developmental and epileptic encephalopathy 71 + + + + DEE71 + + @@ -314556,6 +380664,12 @@ combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency 37 + + + + COXPD37 + + @@ -314578,6 +380692,12 @@ global developmental delay with or without impaired intellectual development global developmental delay with or without impaired intellectual development + + + + GDDI + + @@ -314600,6 +380720,12 @@ encephalopathy, progressive, early-onset, with episodic rhabdomyolysis encephalopathy, progressive, early-onset, with episodic rhabdomyolysis + + + + PEERB + + @@ -314611,6 +380737,12 @@ menke-hennekam syndrome 1 menke-hennekam syndrome 1 + + + + MKHK1 + + @@ -314622,6 +380754,12 @@ menke-hennekam syndrome 2 menke-hennekam syndrome 2 + + + + MKHK2 + + @@ -314647,6 +380785,12 @@ CYBC1 + + + + CYBC1 + + @@ -314658,6 +380802,12 @@ intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency + + + + IMAGEI + + @@ -314668,6 +380818,12 @@ infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development + + + + CASGID + + @@ -314691,6 +380847,12 @@ spermatogenic failure 35 spermatogenic failure 35 + + + + SPGF35 + + @@ -314713,6 +380875,12 @@ intellectual developmental disorder with abnormal behavior, microcephaly, and short stature intellectual developmental disorder with abnormal behavior, microcephaly, and short stature + + + + IDDABS + + @@ -314723,6 +380891,12 @@ polymicrogyria with or without vascular-type ehlers-danlos syndrome polymicrogyria with or without vascular-type ehlers-danlos syndrome + + + + PMGEDSV + + @@ -314746,6 +380920,12 @@ retinitis pigmentosa 85 retinitis pigmentosa 85 + + + + RP85 + + @@ -314756,6 +380936,12 @@ microcephaly, growth deficiency, seizures, and brain malformations microcephaly, growth deficiency, seizures, and brain malformations + + + + MIGSB + + @@ -314767,6 +380953,12 @@ galloway-mowat syndrome 6 galloway-mowat syndrome 6 + + + + GAMOS6 + + @@ -314778,6 +380970,12 @@ galloway-mowat syndrome 7 galloway-mowat syndrome 7 + + + + GAMOS7 + + @@ -314789,6 +380987,12 @@ galloway-mowat syndrome 8 galloway-mowat syndrome 8 + + + + GAMOS8 + + @@ -314813,6 +381017,12 @@ MAP11 + + + + MAP11 + + @@ -314836,6 +381046,12 @@ microcephaly 25, primary, autosomal recessive microcephaly 25, primary, autosomal recessive + + + + MCPH25 + + @@ -314846,6 +381062,12 @@ central centrifugal cicatricial alopecia central centrifugal cicatricial alopecia + + + + CCCA + + @@ -314870,6 +381092,12 @@ oocyte/zygote/embryo maturation arrest 6 oocyte/zygote/embryo maturation arrest 6 + + + + OZEMA6 + + @@ -314894,6 +381122,12 @@ neurodevelopmental disorder and language delay with or without structural brain abnormalities houge-janssens syndrome 3 + + + + HJS3 + + @@ -314916,6 +381150,12 @@ neurodevelopmental disorder with central and peripheral motor dysfunction neurodevelopmental disorder with central and peripheral motor dysfunction + + + + NEDCPMD + + @@ -314939,6 +381179,12 @@ epilepsy, idiopathic generalized, susceptibility to, 15 epilepsy, idiopathic generalized, susceptibility to, 15 + + + + EIG15 + + @@ -314962,6 +381208,12 @@ cone-rod dystrophy and hearing loss 2 cone-rod dystrophy and hearing loss 2 + + + + CRDHL2 + + @@ -314985,6 +381237,12 @@ brain small vessel disease 3 brain small vessel disease 3 + + + + BSVD3 + + @@ -315009,6 +381267,12 @@ coffin-siris syndrome 8 coffin-siris syndrome 8 + + + + CSS8 + + @@ -315031,6 +381295,12 @@ short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis + + + + SSASKS + + @@ -315042,6 +381312,12 @@ myoclonus, familial, 2 myoclonus, familial, 2 + + + + MYOCL2 + + @@ -315066,6 +381342,12 @@ ZSCAN10 + + + + ZSCAN10 + + @@ -315088,6 +381370,12 @@ neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination + + + + NEDMEHM + + @@ -315111,6 +381399,12 @@ spinocerebellar ataxia, autosomal recessive 27 spinocerebellar ataxia, autosomal recessive 27 + + + + SCAR27 + + @@ -315134,6 +381428,12 @@ turnpenny-fry syndrome turnpenny-fry syndrome + + + + TPFS + + @@ -315157,6 +381457,12 @@ phospholipase a2, group iva, deficiency of gastrointestinal ulceration, recurrent, with dysfunctional platelets + + + + GURDP + + @@ -315168,6 +381474,12 @@ capok syndrome cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma + + + + CAPOK + + @@ -315192,6 +381504,12 @@ epileptic encephalopathy, early infantile, 72 developmental and epileptic encephalopathy 72 + + + + DEE72 + + @@ -315209,6 +381527,12 @@ pain sensitivity quantitative trait locus 1 pain sensitivity quantitative trait locus 1 + + + + PAINQTL1 + + @@ -315232,6 +381556,12 @@ combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency 38 + + + + COXPD38 + + @@ -315256,6 +381586,12 @@ epileptic encephalopathy, early infantile, 73 developmental and epileptic encephalopathy 73 + + + + DEE73 + + @@ -315278,6 +381614,12 @@ facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome + + + + FHEIG + + @@ -315303,6 +381645,12 @@ neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities + + + + NEDMCB + + @@ -315325,6 +381673,12 @@ leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate + + + + ARLIAK + + @@ -315349,6 +381703,12 @@ CAP2 + + + + CAP2 + + @@ -315373,6 +381733,12 @@ amelogenesis imperfecta, type 3c amelogenesis imperfecta, type 3c + + + + AI3C + + @@ -315396,6 +381762,12 @@ spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 + + + + SCAN3 + + @@ -315407,6 +381779,12 @@ fetal akinesia deformation sequence 2 fetal akinesia deformation sequence 2 + + + + FADS2 + + @@ -315418,6 +381796,12 @@ fetal akinesia deformation sequence 3 fetal akinesia deformation sequence 3 + + + + FADS3 + + @@ -315441,6 +381825,12 @@ spondyloepiphyseal dysplasia, kondo-fu type spondyloepiphyseal dysplasia, kondo-fu type + + + + SEDKF + + @@ -315464,6 +381854,12 @@ fetal akinesia deformation sequence 4 fetal akinesia deformation sequence 4 + + + + FADS4 + + @@ -315488,6 +381884,12 @@ immunodeficiency and autoimmunity, bach2-related immunodeficiency 60 and autoimmunity + + + + IMD60 + + @@ -315511,6 +381913,12 @@ spondyloepimetaphyseal dysplasia with joint laxity, type 3 spondyloepimetaphyseal dysplasia with joint laxity, type 3 + + + + SEMDJL3 + + @@ -315523,6 +381931,12 @@ epileptic encephalopathy, early infantile, 74 developmental and epileptic encephalopathy 74 + + + + DEE74 + + @@ -315546,6 +381960,12 @@ combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency 39 + + + + COXPD39 + + @@ -315568,6 +381988,12 @@ t-cell lymphoma, subcutaneous panniculitis-like t-cell lymphoma, subcutaneous panniculitis-like + + + + SPTCL + + @@ -315580,6 +382006,12 @@ charcot-marie-tooth neuropathy, type 2ee charcot-marie-tooth disease, axonal, type 2ee + + + + CMT2EE + + @@ -315604,6 +382036,12 @@ mental retardation, autosomal recessive 70 intellectual developmental disorder, autosomal recessive 70 + + + + MRT70 + + @@ -315627,6 +382065,12 @@ leukodystrophy, hypomyelinating, 18 leukodystrophy, hypomyelinating, 18 + + + + HLD18 + + @@ -315642,6 +382086,12 @@ This term has one or more labels that end with ', INCLUDED'. body mass index quantitative trait locus 20 + + + + BMIQ20 + + @@ -315653,6 +382103,12 @@ deafness, autosomal recessive 113 deafness, autosomal recessive 113 + + + + DFNB113 + + @@ -315664,6 +382120,12 @@ glutaminase deficiency with impaired intellectual development and progressive ataxia global developmental delay, progressive ataxia, and elevated glutamine + + + + GDPAG + + @@ -315688,6 +382150,12 @@ FAM149B1 + + + + FAM149B1 + + @@ -315712,6 +382180,12 @@ myopathy, congenital, with fast-twitch (type ii) fiber atrophy congenital myopathy 14 + + + + CMYO14 + + @@ -315735,6 +382209,12 @@ cataract 48 cataract 48 + + + + CTRCT48 + + @@ -315757,6 +382237,12 @@ metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression + + + + MECREN + + @@ -315779,6 +382265,12 @@ spastic paraplegia 80, autosomal dominant spastic paraplegia 80, autosomal dominant + + + + SPG80 + + @@ -315791,6 +382283,12 @@ myoectodermal gonadal dysgenesis syndrome myoectodermal gonadal dysgenesis syndrome + + + + MEGD + + @@ -315802,6 +382300,12 @@ spermatogenic failure 36 spermatogenic failure 36 + + + + SPGF36 + + @@ -315826,6 +382330,12 @@ REC114 + + + + REC114 + + @@ -315849,6 +382359,12 @@ deafness, autosomal recessive 100 deafness, autosomal recessive 100 + + + + DFNB100 + + @@ -315872,6 +382388,12 @@ ARMC2 + + + + ARMC2 + + @@ -315894,6 +382416,12 @@ neurodevelopmental disorder with impaired speech and hyperkinetic movements neurodevelopmental disorder with impaired speech and hyperkinetic movements + + + + NEDISHM + + @@ -315905,6 +382433,12 @@ encephalopathy, acute, infection-induced, susceptibility to, 9 encephalopathy, acute, infection-induced, susceptibility to, 9 + + + + IIAE9 + + @@ -315938,6 +382472,12 @@ spermatogenic failure 37 spermatogenic failure 37 + + + + SPGF37 + + @@ -315960,6 +382500,12 @@ developmental delay with variable intellectual impairment and behavioral abnormalities developmental delay with variable intellectual impairment and behavioral abnormalities + + + + DDVIBA + + @@ -315983,6 +382529,12 @@ hydatidiform mole, recurrent, 3 hydatidiform mole, recurrent, 3 + + + + HYDM3 + + @@ -316000,6 +382552,12 @@ hydatidiform mole, recurrent, 4 hydatidiform mole, recurrent, 4 + + + + HYDM4 + + @@ -316023,6 +382581,12 @@ spermatogenic failure 38 spermatogenic failure 38 + + + + SPGF38 + + @@ -316034,6 +382598,12 @@ deafness, autosomal recessive 94 deafness, autosomal recessive 94 + + + + DFNB94 + + @@ -316057,6 +382627,12 @@ arthrogryposis, distal, type 2b2 arthrogryposis, distal, type 2b2 + + + + DA2B2 + + @@ -316068,6 +382644,12 @@ arthrogryposis, distal, type 2b3 arthrogryposis, distal, type 2b3 + + + + DA2B3 + + @@ -316092,6 +382674,12 @@ epileptic encephalopathy, early infantile, 75 developmental and epileptic encephalopathy 75 + + + + DEE75 + + @@ -316115,6 +382703,12 @@ spastic ataxia 9, autosomal recessive spastic ataxia 9, autosomal recessive + + + + SPAX9 + + @@ -316138,6 +382732,12 @@ USP45 + + + + USP45 + + @@ -316161,6 +382761,12 @@ oculoskeletodental syndrome oculoskeletodental syndrome + + + + OCSKD + + @@ -316183,6 +382789,12 @@ neurodevelopmental disorder with or without variable brain abnormalities neurodevelopmental disorder with or without variable brain abnormalities + + + + NEDBA + + @@ -316194,6 +382806,12 @@ long qt syndrome 8 long qt syndrome 8 + + + + LQT8 + + @@ -316217,6 +382835,12 @@ ciliary dyskinesia, primary, 41 ciliary dyskinesia, primary, 41 + + + + CILD41 + + @@ -316239,6 +382863,12 @@ neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia + + + + NDCAMA + + @@ -316261,6 +382891,12 @@ intellectual developmental disorder with short stature and variable skeletal anomalies intellectual developmental disorder with short stature and variable skeletal anomalies + + + + IDDSSA + + @@ -316271,6 +382907,12 @@ developmental delay with or without dysmorphic facies and autism developmental delay with or without dysmorphic facies and autism + + + + DEDDFA + + @@ -316295,6 +382937,12 @@ HEPHL1 + + + + HEPHL1 + + @@ -316318,6 +382966,12 @@ deafness, autosomal recessive 114 deafness, autosomal recessive 114 + + + + DFNB114 + + @@ -316341,6 +382995,12 @@ deafness, autosomal recessive 115 deafness, autosomal recessive 115 + + + + DFNB115 + + @@ -316364,6 +383024,12 @@ knobloch syndrome 2 knobloch syndrome 2 + + + + KNO2 + + @@ -316387,6 +383053,12 @@ immunodeficiency 62 immunodeficiency 62 + + + + IMD62 + + @@ -316410,6 +383082,12 @@ khan-khan-katsanis syndrome khan-khan-katsanis syndrome + + + + 3KS + + @@ -316435,6 +383113,12 @@ NDUFAF8 + + + + NDUFAF8 + + @@ -316446,6 +383130,12 @@ bleeding disorder, platelet-type, 22 bleeding disorder, platelet-type, 22 + + + + BDPLT22 + + @@ -316482,6 +383172,12 @@ pheochromocytoma/paraganglioma syndrome 6 pheochromocytoma/paraganglioma syndrome 6 + + + + PPGL6 + + @@ -316495,6 +383191,12 @@ epileptic encephalopathy, early infantile, 76 developmental and epileptic encephalopathy 76 + + + + DEE76 + + @@ -316507,6 +383209,12 @@ contractures, pterygia, and variable skeletal fusions syndrome 1b contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b + + + + CPSFS1B + + @@ -316517,6 +383225,12 @@ intellectual developmental disorder with severe speech and ambulation defects intellectual developmental disorder with severe speech and ambulation defects + + + + IDDSSAD + + @@ -316541,6 +383255,12 @@ pheochromocytoma/paraganglioma syndrome 7 pheochromocytoma/paraganglioma syndrome 7 + + + + PPGL7 + + @@ -316551,6 +383271,12 @@ brain abnormalities, neurodegeneration, and dysosteosclerosis brain abnormalities, neurodegeneration, and dysosteosclerosis + + + + BANDDOS + + @@ -316573,6 +383299,12 @@ uridine-cytidineuria uridine-cytidineuria + + + + URCTU + + @@ -316595,6 +383327,12 @@ cerebellar, ocular, craniofacial, and genital syndrome cerebellar, ocular, craniofacial, and genital syndrome + + + + COFG + + @@ -316617,6 +383355,12 @@ neurodevelopmental disorder with seizures and speech and walking impairment neurodevelopmental disorder with seizures and speech and walking impairment + + + + NEDSSWI + + @@ -316640,6 +383384,12 @@ deafness, autosomal recessive 99 deafness, autosomal recessive 99 + + + + DFNB99 + + @@ -316652,6 +383402,12 @@ generalized epilepsy with febrile seizures plus, type 10 generalized epilepsy with febrile seizures plus, type 10 + + + + GEFSP10 + + @@ -316664,6 +383420,12 @@ arthrogryposis multiplex congenita, myogenic type arthrogryposis multiplex congenita 3, myogenic type + + + + AMC3 + + @@ -316686,6 +383448,12 @@ neurodevelopmental disorder with microcephaly and structural brain anomalies neurodevelopmental disorder with microcephaly and structural brain anomalies + + + + NEDMIBA + + @@ -316708,6 +383476,12 @@ hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities + + + + HIDEA + + @@ -316718,6 +383492,12 @@ congenital hypotonia, epilepsy, developmental delay, and digital anomalies congenital hypotonia, epilepsy, developmental delay, and digital anomalies + + + + CHEDDA + + @@ -316744,6 +383524,12 @@ interleukin 2 receptor, beta, deficiency of immunodeficiency 63 with lymphoproliferation and autoimmunity + + + + IMD63 + + @@ -316769,6 +383555,12 @@ bicuspid aortic valve aortic valve disease 3 + + + + AOVD3 + + @@ -316791,6 +383583,12 @@ neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements + + + + NEDNEH + + @@ -316814,6 +383612,12 @@ polydactyly, postaxial, type a10 polydactyly, postaxial, type a10 + + + + PAPA10 + + @@ -316837,6 +383641,12 @@ noonan syndrome 11 noonan syndrome 11 + + + + NS11 + + @@ -316848,6 +383658,12 @@ holoprosencephaly 12 with or without pancreatic agenesis holoprosencephaly 12 with or without pancreatic agenesis + + + + HPE12 + + @@ -316870,6 +383686,12 @@ cerebellar atrophy with seizures and variable developmental delay cerebellar atrophy with seizures and variable developmental delay + + + + CASVDD + + @@ -316894,6 +383716,12 @@ mental retardation, autosomal recessive 71 intellectual developmental disorder, autosomal recessive 71 + + + + MRT71 + + @@ -316917,6 +383745,12 @@ stolerman neurodevelopmental syndrome stolerman neurodevelopmental syndrome + + + + NEDSST + + @@ -316941,6 +383775,12 @@ intellectual developmental disorder with speech delay and dysmorphic facies intellectual developmental disorder with speech delay and dysmorphic facies + + + + IDDSDF + + @@ -316965,6 +383805,12 @@ neuropathy, hereditary motor and sensory, type vic, with optic atrophy neuropathy, hereditary motor and sensory, type vic, with optic atrophy + + + + HMSN6C + + @@ -316987,6 +383833,12 @@ o'donnell-luria-rodan syndrome o'donnell-luria-rodan syndrome + + + + ODLURO + + @@ -317010,6 +383862,12 @@ leber congenital amaurosis 19 leber congenital amaurosis 19 + + + + LCA19 + + @@ -317034,6 +383892,12 @@ mental retardation, autosomal dominant 59 intellectual developmental disorder, autosomal dominant 59 + + + + MRD59 + + @@ -317046,6 +383910,12 @@ hyper-ige syndrome 4b, autosomal recessive, with recurrent infections hyper-ige syndrome 4b, autosomal recessive, with recurrent infections + + + + HIES4B + + @@ -317059,6 +383929,12 @@ myopathy, congenital, with tremor congenital myopathy 16 + + + + CMYO16 + + @@ -317081,6 +383957,12 @@ ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features + + + + IKSHD + + @@ -317093,6 +383975,12 @@ mitochondrial dna depletion syndrome 16 mitochondrial DNA depletion syndrome 16 (hepatic type) + + + + MTDPS16 + + @@ -317122,6 +384010,12 @@ robinow syndrome, autosomal recessive 2 robinow syndrome, autosomal recessive 2 + + + + RRS2 + + @@ -317133,6 +384027,12 @@ erythrokeratodermia variabilis et progressiva 6 erythrokeratodermia variabilis et progressiva 6 + + + + EKVP6 + + @@ -317144,6 +384044,12 @@ deafness, autosomal dominant 37 deafness, autosomal dominant 37 + + + + DFNA37 + + @@ -317167,6 +384073,12 @@ immunodeficiency 64 with lymphoproliferation immunodeficiency 64 with lymphoproliferation + + + + IMD64 + + @@ -317190,6 +384102,12 @@ ectodermal dysplasia 15, hypohidrotic/hair type ectodermal dysplasia 15, hypohidrotic/hair type + + + + ECTD15 + + @@ -317200,6 +384118,12 @@ hypopigmentation, organomegaly, and delayed myelination and development hypopigmentation, organomegaly, and delayed myelination and development + + + + HOD + + @@ -317224,6 +384148,12 @@ RABL3 + + + + RABL3 + + @@ -317247,6 +384177,12 @@ trichothiodystrophy 7, nonphotosensitive trichothiodystrophy 7, nonphotosensitive + + + + TTD7 + + @@ -317257,6 +384193,12 @@ neurodevelopmental disorder with visual defects and brain anomalies neurodevelopmental disorder with visual defects and brain anomalies + + + + NEDVIBA + + @@ -317284,6 +384226,12 @@ multiple congenital anomalies-hypotonia-seizures syndrome 4 multiple congenital anomalies-hypotonia-seizures syndrome 4 + + + + MCAHS4 + + @@ -317306,6 +384254,12 @@ hepatitis, fulminant viral, susceptibility to hepatitis, fulminant viral, susceptibility to + + + + FVH + + @@ -317330,6 +384284,12 @@ oocyte/zygote/embryo maturation arrest 7 oocyte/zygote/embryo maturation arrest 7 + + + + OZEMA7 + + @@ -317341,6 +384301,12 @@ night blindness, congenital stationary, type1i night blindness, congenital stationary, type1i + + + + CSNB1I + + @@ -317353,6 +384319,12 @@ epileptic encephalopathy, early infantile, 78 developmental and epileptic encephalopathy 78 + + + + DEE78 + + @@ -317377,6 +384349,12 @@ epileptic encephalopathy, early infantile, 79 developmental and epileptic encephalopathy 79 + + + + DEE79 + + @@ -317388,6 +384366,12 @@ microangiopathy and leukoencephalopathy, pontine, autosomal dominant microangiopathy and leukoencephalopathy, pontine, autosomal dominant + + + + PADMAL + + @@ -317411,6 +384395,12 @@ mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 17 + + + + MTDPS17 + + @@ -317433,6 +384423,12 @@ neurodevelopmental disorder with ataxia, hypotonia, and microcephaly neurodevelopmental disorder with ataxia, hypotonia, and microcephaly + + + + NEDAHM + + @@ -317457,6 +384453,12 @@ TRIM71 + + + + TRIM71 + + @@ -317479,6 +384481,12 @@ neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies + + + + NDCAGF + + @@ -317501,6 +384509,12 @@ neurodevelopmental disorder with cerebellar hypoplasia and spasticity neurodevelopmental disorder with cerebellar hypoplasia and spasticity + + + + NEDCHS + + @@ -317525,6 +384539,12 @@ thyrotropin-releasing hormone resistance, generalized hypothyroidism, congenital, nongoitrous, 7 + + + + CHNG7 + + @@ -317547,6 +384567,12 @@ neurodevelopmental disorder with structural brain anomalies and dysmorphic facies neurodevelopmental disorder with structural brain anomalies and dysmorphic facies + + + + NEDBAF + + @@ -317559,6 +384585,12 @@ myopathy, congenital, progressive, with scoliosis congenital myopathy 19 + + + + CMYO19 + + @@ -317584,6 +384616,12 @@ glycosylphosphatidylinositol biosynthesis defect 20 developmental and epileptic encephalopathy 80 + + + + DEE80 + + @@ -317607,6 +384645,12 @@ WDR37 + + + + WDR37 + + @@ -317631,6 +384675,12 @@ mental retardation, autosomal dominant 60, with seizures intellectual developmental disorder, autosomal dominant 60, with seizures + + + + MRD60 + + @@ -317654,6 +384704,12 @@ neurodevelopmental disorder with brain anomalies, seizures, and scoliosis neurodevelopmental disorder with brain anomalies, seizures, and scoliosis + + + + NEDBSS + + @@ -317665,6 +384721,12 @@ short sleep, familial natural, 2 short sleep, familial natural, 2 + + + + FNSS2 + + @@ -317688,6 +384750,12 @@ nephrotic syndrome, type 21 nephrotic syndrome, type 21 + + + + NPHS21 + + @@ -317699,6 +384767,12 @@ epilepsy, idiopathic generalized, susceptibility to, 16 epilepsy, idiopathic generalized, susceptibility to, 16 + + + + EIG16 + + @@ -317710,6 +384784,12 @@ spastic tetraplegia and axial hypotonia, progressive spastic tetraplegia and axial hypotonia, progressive + + + + STAHP + + @@ -317732,6 +384812,12 @@ neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities + + + + NEDHIB + + @@ -317754,6 +384840,12 @@ snijders blok-fisher syndrome snijders blok-fisher syndrome + + + + SNIBFIS + + @@ -317777,6 +384869,12 @@ pontocerebellar hypoplasia, type 13 pontocerebellar hypoplasia, type 13 + + + + PCH13 + + @@ -317801,6 +384899,12 @@ This term has one or more labels that end with ', INCLUDED'. intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies + + + + IDNADFS + + @@ -317826,6 +384930,12 @@ HROB + + + + HROB + + @@ -317848,6 +384958,12 @@ lower urinary tract obstruction, congenital lower urinary tract obstruction, congenital + + + + LUTO + + @@ -317871,6 +384987,12 @@ retinitis pigmentosa 86 retinitis pigmentosa 86 + + + + RP86 + + @@ -317893,6 +385015,12 @@ spondyloepiphyseal dysplasia, nishimura type spondyloepiphyseal dysplasia, nishimura type + + + + SEDN + + @@ -317915,6 +385043,12 @@ weiss-kruszka syndrome weiss-kruszka syndrome + + + + WSKA + + @@ -317938,6 +385072,12 @@ abdominal obesity-metabolic syndrome 4 abdominal obesity-metabolic syndrome 4 + + + + AOMS4 + + @@ -317960,6 +385100,12 @@ neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies + + + + NEDMABA + + @@ -317971,6 +385117,12 @@ noonan syndrome 12 noonan syndrome 12 + + + + NS12 + + @@ -317995,6 +385147,12 @@ rothmund-thomson syndrome, type 1 rothmund-thomson syndrome, type 1 + + + + RTS1 + + @@ -318020,6 +385178,12 @@ METTL5 + + + + METTL5 + + @@ -318030,6 +385194,12 @@ usher syndrome, type 1m usher syndrome, type 1m + + + + USH1M + + @@ -318053,6 +385223,12 @@ siddiqi syndrome siddiqi syndrome + + + + SIDDIS + + @@ -318075,6 +385251,12 @@ oculopharyngeal myopathy with leukoencephalopathy 1 oculopharyngeal myopathy with leukoencephalopathy 1 + + + + OPML1 + + @@ -318098,6 +385280,12 @@ NUTM2BAS1 + + + + NUTM2BAS1 + + @@ -318121,6 +385309,12 @@ infantile liver failure syndrome 3 infantile liver failure syndrome 3 + + + + ILFS3 + + @@ -318144,6 +385338,12 @@ spermatogenic failure 39 spermatogenic failure 39 + + + + SPGF39 + + @@ -318167,6 +385367,12 @@ osteogenesis imperfecta, type 20 osteogenesis imperfecta, type 20 + + + + OI20 + + @@ -318191,6 +385397,12 @@ spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia diencephalic-mesencephalic junction dysplasia syndrome 2 + + + + DMJDS2 + + @@ -318214,6 +385426,12 @@ immunodeficiency 65, susceptibility to viral infections immunodeficiency 65, susceptibility to viral infections + + + + IMD65 + + @@ -318237,6 +385455,12 @@ neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies halperin-birk syndrome + + + + HLBKS + + @@ -318259,6 +385483,12 @@ neurooculocardiogenitourinary syndrome neurooculocardiogenitourinary syndrome + + + + NOCGUS + + @@ -318281,6 +385511,12 @@ intellectual developmental disorder with impaired language and dysmorphic facies intellectual developmental disorder with impaired language and dysmorphic facies + + + + IDDILF + + @@ -318294,6 +385530,12 @@ myopathy, congenital, with structured cores and z-line abnormalities congenital myopathy 8 + + + + CMYO8 + + @@ -318305,6 +385547,12 @@ myopathy, distal, 6, adult-onset, autosomal dominant myopathy, distal, 6, adult-onset, autosomal dominant + + + + MPD6 + + @@ -318330,6 +385578,12 @@ PERCC1 + + + + PERCC1 + + @@ -318353,6 +385607,12 @@ zimmermann-laband syndrome 3 zimmermann-laband syndrome 3 + + + + ZLS3 + + @@ -318375,6 +385635,12 @@ neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies + + + + NEDDFSA + + @@ -318421,6 +385687,12 @@ CFAP70 + + + + CFAP70 + + @@ -318445,6 +385717,12 @@ intractable diarrhea of infancy syndrome diarrhea 11, malabsorptive, congenital + + + + DIAR11 + + @@ -318457,6 +385735,12 @@ epileptic encephalopathy, early infantile, 81 developmental and epileptic encephalopathy 81 + + + + DEE81 + + @@ -318480,6 +385764,12 @@ spermatogenic failure 40 spermatogenic failure 40 + + + + SPGF40 + + @@ -318504,6 +385794,12 @@ mental retardation, autosomal recessive 72 intellectual developmental disorder, autosomal recessive 72 + + + + MRT72 + + @@ -318527,6 +385823,12 @@ sitosterolemia 2 sitosterolemia 2 + + + + STSL2 + + @@ -318551,6 +385853,12 @@ hydrocephalus, congenital, 4 hydrocephalus, congenital, 4 + + + + HYC4 + + @@ -318574,6 +385882,12 @@ spermatogenic failure 41 spermatogenic failure 41 + + + + SPGF41 + + @@ -318596,6 +385910,12 @@ intellectual developmental disorder with speech delay, autism, and dysmorphic facies intellectual developmental disorder with speech delay, autism, and dysmorphic facies + + + + IDDSADF + + @@ -318619,6 +385939,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 + + + + PFBMFT5 + + @@ -318630,6 +385956,12 @@ cortical dysplasia, complex, with other brain malformations 10 cortical dysplasia, complex, with other brain malformations 10 + + + + CDCBM10 + + @@ -318652,6 +385984,12 @@ pancreatic cancer, susceptibility to, 5 pancreatic cancer, susceptibility to, 5 + + + + PNCA5 + + @@ -318662,6 +386000,12 @@ lessel-kubisch syndrome lessel-kubisch syndrome + + + + LSKB + + @@ -318685,6 +386029,12 @@ mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 + + + + MC5DN6 + + @@ -318709,6 +386059,12 @@ TMEM63A + + + + TMEM63A + + @@ -318731,6 +386087,12 @@ intellectual developmental disorder with short stature and behavioral abnormalities intellectual developmental disorder with short stature and behavioral abnormalities + + + + IDDSSBA + + @@ -318754,6 +386116,12 @@ leukodystrophy, hypomyelinating, 19, transient infantile leukodystrophy, hypomyelinating, 19, transient infantile + + + + HLD19 + + @@ -318777,6 +386145,12 @@ NTNG2 + + + + NTNG2 + + @@ -318801,6 +386175,12 @@ ciliary dyskinesia, primary, 42, without situs inversus ciliary dyskinesia, primary, 42 + + + + CILD42 + + @@ -318812,6 +386192,12 @@ retinitis pigmentosa 87 with choroidal involvement retinitis pigmentosa 87 with choroidal involvement + + + + RP87 + + @@ -318836,6 +386222,12 @@ ciliary dyskinesia, primary, 43, with or without situs inversus ciliary dyskinesia, primary, 43 + + + + CILD43 + + @@ -318858,6 +386250,12 @@ short stature and microcephaly with genital anomalies short stature and microcephaly with genital anomalies + + + + SSMGA + + @@ -318881,6 +386279,12 @@ neurodevelopmental disorder with absent language and variable seizures neurodevelopmental disorder with absent language and variable seizures + + + + NEDALVS + + @@ -318903,6 +386307,12 @@ neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures + + + + NEDBAS + + @@ -318925,6 +386335,12 @@ neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia + + + + NEDBASH + + @@ -318947,6 +386363,12 @@ megabladder, congenital megabladder, congenital + + + + MGBL + + @@ -318973,6 +386395,12 @@ got2 deficiency developmental and epileptic encephalopathy 82 + + + + DEE82 + + @@ -318996,6 +386424,12 @@ premature ovarian failure 16 premature ovarian failure 16 + + + + POF16 + + @@ -319007,6 +386441,12 @@ microcephaly, short stature, and impaired intellectual development heyn-sproul-jackson syndrome + + + + HESJAS + + @@ -319029,6 +386469,12 @@ intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures + + + + IDDBCS + + @@ -319053,6 +386499,12 @@ NEK10 + + + + NEK10 + + @@ -319075,6 +386527,12 @@ ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies + + + + EDFAOB + + @@ -319097,6 +386555,12 @@ spondyloepimetaphyseal dysplasia, isidor-toutain type spondyloepimetaphyseal dysplasia, isidor-toutain type + + + + SEMDIST + + @@ -319107,6 +386571,12 @@ liang-wang syndrome liang-wang syndrome + + + + LIWAS + + @@ -319130,6 +386600,12 @@ vandervore-schot syndrome neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity + + + + NEDMCMS + + @@ -319140,6 +386616,12 @@ neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies + + + + NEDBAVC + + @@ -319162,6 +386644,12 @@ poirier-bienvenu neurodevelopmental syndrome poirier-bienvenu neurodevelopmental syndrome + + + + POBINDS + + @@ -319184,6 +386672,12 @@ neuromuscular oculoauditory syndrome neuromuscular oculoauditory syndrome + + + + NMOAS + + @@ -319195,6 +386689,12 @@ aneurysm, intracranial berry, 12 aneurysm, intracranial berry, 12 + + + + ANIB12 + + @@ -319219,6 +386719,12 @@ TTC29 + + + + TTC29 + + @@ -319229,6 +386735,12 @@ structural brain anomalies with impaired intellectual development and craniosynostosis structural brain anomalies with impaired intellectual development and craniosynostosis + + + + BAIDCS + + @@ -319253,6 +386765,12 @@ pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures cortical dysplasia, complex, with other brain malformations 15 + + + + CDCBM15 + + @@ -319275,6 +386793,12 @@ neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy + + + + NEDESBA + + @@ -319300,6 +386824,12 @@ epileptic encephalopathy, early infantile, 83 developmental and epileptic encephalopathy 83 + + + + DEE83 + + @@ -319323,6 +386853,12 @@ spermatogenic failure 42 spermatogenic failure 42 + + + + SPGF42 + + @@ -319345,6 +386881,12 @@ intellectual developmental disorder with hypotonia and behavioral abnormalities intellectual developmental disorder with hypotonia and behavioral abnormalities + + + + IDDHBA + + @@ -319368,6 +386910,12 @@ spermatogenic failure 43 spermatogenic failure 43 + + + + SPGF43 + + @@ -319393,6 +386941,12 @@ shwachman-diamond syndrome-like neutropenia, severe congenital, 8, autosomal dominant + + + + SCN8 + + @@ -319415,6 +386969,12 @@ neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements + + + + NEDHAHM + + @@ -319438,6 +386998,12 @@ cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder catifa syndrome + + + + CATIFA + + @@ -319461,6 +387027,12 @@ joubert syndrome 36 joubert syndrome 36 + + + + JBTS36 + + @@ -319486,6 +387058,12 @@ zain syndrome arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum + + + + AMC4 + + @@ -319509,6 +387087,12 @@ corneal dystrophy, meesmann, 2 corneal dystrophy, meesmann, 2 + + + + MECD2 + + @@ -319532,6 +387116,12 @@ spastic paraplegia 81, autosomal recessive spastic paraplegia 81, autosomal recessive + + + + SPG81 + + @@ -319555,6 +387145,12 @@ spastic paraplegia 82, autosomal recessive spastic paraplegia 82, autosomal recessive + + + + SPG82 + + @@ -319578,6 +387174,12 @@ lymphatic malformation 8 lymphatic malformation 8 + + + + LMPHM8 + + @@ -319590,6 +387192,12 @@ mn1 c-terminal truncation syndrome cebalid syndrome + + + + CEBALID + + @@ -319613,6 +387221,12 @@ mitochondrial complex 3 deficiency, nuclear type 10 mitochondrial complex 3 deficiency, nuclear type 10 + + + + MC3DN10 + + @@ -319636,6 +387250,12 @@ mitochondrial complex 1 deficiency, nuclear type 34 mitochondrial complex 1 deficiency, nuclear type 34 + + + + MC1DN34 + + @@ -319647,6 +387267,12 @@ deafness, autosomal dominant 75 deafness, autosomal dominant 75 + + + + DFNA75 + + @@ -319670,6 +387296,12 @@ coffin-siris syndrome 11 coffin-siris syndrome 11 + + + + CSS11 + + @@ -319680,6 +387312,12 @@ congenital heart defects, multiple types, 7 congenital heart defects, multiple types, 7 + + + + CHTD7 + + @@ -319704,6 +387342,12 @@ ciliary dyskinesia, primary, 44, without situs inversus ciliary dyskinesia, primary, 44 + + + + CILD44 + + @@ -319718,6 +387362,12 @@ This term has one or more labels that end with ', INCLUDED'. long qt syndrome 16 + + + + LQT16 + + @@ -319740,6 +387390,12 @@ imagawa-matsumoto syndrome imagawa-matsumoto syndrome + + + + IMMAS + + @@ -319763,6 +387419,12 @@ deafness, autosomal dominant 76 deafness, autosomal dominant 76 + + + + DFNA76 + + @@ -319786,6 +387448,12 @@ CCDC134 + + + + CCDC134 + + @@ -319811,6 +387479,12 @@ jamuar syndrome developmental and epileptic encephalopathy 84 + + + + DEE84 + + @@ -319835,6 +387509,12 @@ mental retardation, autosomal dominant 62 intellectual developmental disorder, autosomal dominant 62 + + + + MRD62 + + @@ -319857,6 +387537,12 @@ juvenile arthritis juvenile arthritis + + + + JUVAR + + @@ -319879,6 +387565,12 @@ neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation + + + + NEDHRIT + + @@ -319901,6 +387593,12 @@ beck-fahrner syndrome beck-fahrner syndrome + + + + BEFAHRS + + @@ -319924,6 +387622,12 @@ spinocerebellar ataxia, autosomal recessive 28 spinocerebellar ataxia, autosomal recessive 28 + + + + SCAR28 + + @@ -319948,6 +387652,12 @@ ciliary dyskinesia, primary, 45, without situs inversus ciliary dyskinesia, primary, 45 + + + + CILD45 + + @@ -319974,6 +387684,12 @@ THG1L + + + + THG1L + + @@ -319984,6 +387700,12 @@ respiratory papillomatosis, juvenile recurrent, congenital respiratory papillomatosis, juvenile recurrent, congenital + + + + JRRP + + @@ -320006,6 +387728,12 @@ sandestig-stefanova syndrome sandestig-stefanova syndrome + + + + SANDSTEF + + @@ -320028,6 +387756,12 @@ triokinase and fmn cyclase deficiency syndrome triokinase and fmn cyclase deficiency syndrome + + + + TKFCD + + @@ -320038,6 +387772,12 @@ t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant + + + + TLIND + + @@ -320051,6 +387791,12 @@ This term has one or more labels that end with ', INCLUDED'. lipoprotein(a) quantitative trait locus + + + + LPAQTL + + @@ -320073,6 +387819,12 @@ intellectual developmental disorder with poor growth and with or without seizures or ataxia intellectual developmental disorder with poor growth and with or without seizures or ataxia + + + + IDPOGSA + + @@ -320086,6 +387838,12 @@ This term has one or more labels that end with ', INCLUDED'. pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal + + + + PHRINL + + @@ -320109,6 +387867,12 @@ mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 18 + + + + MTDPS18 + + @@ -320146,6 +387910,12 @@ genitourinary and/or brain malformation syndrome genitourinary and/or brain malformation syndrome + + + + GUBS + + @@ -320168,6 +387938,12 @@ rhizomelic limb shortening with dysmorphic features rhizomelic limb shortening with dysmorphic features + + + + RLSDF + + @@ -320180,6 +387956,12 @@ myopathy, congenital, with respiratory insufficiency and bone fractures congenital myopathy 9a + + + + CMYO9A + + @@ -320192,6 +387974,12 @@ myopathy, congenital proximal, with minicore lesions congenital myopathy 9b, proximal, with minicore lesions + + + + CMYO9B + + @@ -320215,6 +388003,12 @@ basal ganglia calcification, idiopathic, 8, autosomal recessive basal ganglia calcification, idiopathic, 8, autosomal recessive + + + + IBGC8 + + @@ -320227,6 +388021,12 @@ mental retardation, autosomal dominant 63, with macrocephaly intellectual developmental disorder, autosomal dominant 63, with macrocephaly + + + + MRD63 + + @@ -320238,6 +388038,12 @@ retinitis pigmentosa 88 retinitis pigmentosa 88 + + + + RP88 + + @@ -320261,6 +388067,12 @@ myopia 27, autosomal dominant myopia 27, autosomal dominant + + + + MYP27 + + @@ -320272,6 +388084,12 @@ neurodevelopmental disorder with microcephaly and dysmorphic facies nabais sa-de vries syndrome, type 1 + + + + NSDVS1 + + @@ -320283,6 +388101,12 @@ neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies nabais sa-de vries syndrome, type 2 + + + + NSDVS2 + + @@ -320306,6 +388130,12 @@ autism, susceptibility to, 20 autism, susceptibility to, 20 + + + + AUTS20 + + @@ -320317,6 +388147,12 @@ epilepsy, early-onset, 2, with or without developmental delay epilepsy, early-onset, 2, with or without developmental delay + + + + EPEO2 + + @@ -320340,6 +388176,12 @@ combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency 40 + + + + COXPD40 + + @@ -320363,6 +388205,12 @@ combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency 41 + + + + COXPD41 + + @@ -320386,6 +388234,12 @@ combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency 42 + + + + COXPD42 + + @@ -320398,6 +388252,12 @@ alopecia-mental retardation syndrome 4 alopecia-intellectual disability syndrome 4 + + + + APMR4 + + @@ -320421,6 +388281,12 @@ hypogonadotropic hypogonadism 25 with anosmia hypogonadotropic hypogonadism 25 with anosmia + + + + HH25 + + @@ -320445,6 +388311,12 @@ vertebral, cardiac, renal, and limb defects syndrome 3 vertebral, cardiac, renal, and limb defects syndrome 3 + + + + VCRL3 + + @@ -320468,6 +388340,12 @@ intellectual developmental disorder with distinctive facial dysmorphism diets-jongmans syndrome + + + + DIJOS + + @@ -320491,6 +388369,12 @@ immunodeficiency 66 immunodeficiency 66 + + + + IMD66 + + @@ -320514,6 +388398,12 @@ muscular dystrophy, limb-girdle, autosomal recessive 26 muscular dystrophy, limb-girdle, autosomal recessive 26 + + + + LGMDR26 + + @@ -320537,6 +388427,12 @@ bone marrow failure syndrome 6 bone marrow failure syndrome 6 + + + + BMFS6 + + @@ -320560,6 +388456,12 @@ hypervalinemia and hyperleucine-isoleucinemia hypervalinemia and hyperleucine-isoleucinemia + + + + HVLI + + @@ -320583,6 +388485,12 @@ combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency 43 + + + + COXPD43 + + @@ -320595,6 +388503,12 @@ cria syndrome autoinflammation with episodic fever and lymphadenopathy + + + + AIEFL + + @@ -320618,6 +388532,12 @@ anauxetic dysplasia 3 anauxetic dysplasia 3 + + + + ANXD3 + + @@ -320641,6 +388561,12 @@ combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 + + + + COXPD44 + + @@ -320654,6 +388580,12 @@ This term has one or more labels that end with ', INCLUDED'. diabetes mellitus, permanent neonatal, 2 + + + + PNDM2 + + @@ -320667,6 +388599,12 @@ This term has one or more labels that end with ', INCLUDED'. diabetes mellitus, permanent neonatal, 3 + + + + PNDM3 + + @@ -320678,6 +388616,12 @@ diabetes mellitus, permanent neonatal, 4 diabetes mellitus, permanent neonatal, 4 + + + + PNDM4 + + @@ -320700,6 +388644,12 @@ neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities + + + + NEDASB + + @@ -320722,6 +388672,12 @@ neurodevelopmental disorder with hypotonia, microcephaly, and seizures neurodevelopmental disorder with hypotonia, microcephaly, and seizures + + + + NEDHYMS + + @@ -320744,6 +388700,12 @@ retinal dystrophy with leukodystrophy retinal dystrophy with leukodystrophy + + + + RDLKD + + @@ -320769,6 +388731,12 @@ CEP85L + + + + CEP85L + + @@ -320780,6 +388748,12 @@ tremor, hereditary essential, 6 tremor, hereditary essential, 6 + + + + ETM6 + + @@ -320802,6 +388776,12 @@ neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline + + + + CONATOC + + @@ -320824,6 +388804,12 @@ skeletal dysplasia, mild, with joint laxity and advanced bone age skeletal dysplasia, mild, with joint laxity and advanced bone age + + + + SDJLABA + + @@ -320846,6 +388832,12 @@ nizon-isidor syndrome nizon-isidor syndrome + + + + NIZIDS + + @@ -320869,6 +388861,12 @@ lissencephaly 10 lissencephaly 10 + + + + LIS10 + + @@ -320907,6 +388905,12 @@ seizures, early-onset, with neurodegeneration and brain calcifications seizures, early-onset, with neurodegeneration and brain calcifications + + + + SENEBAC + + @@ -320930,6 +388934,12 @@ epilepsy, progressive myoclonic, 11 epilepsy, progressive myoclonic, 11 + + + + EPM11 + + @@ -320941,6 +388951,12 @@ leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome + + + + LEUDEN + + @@ -320964,6 +388980,12 @@ leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome + + + + LEMSPAD + + @@ -320987,6 +389009,12 @@ neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures + + + + NEDHCAS + + @@ -320997,6 +389025,12 @@ glaucoma, primary closed-angle glaucoma, primary closed-angle + + + + GLCC + + @@ -321021,6 +389055,12 @@ galactosemia 4 galactosemia 4 + + + + GALAC4 + + @@ -321045,6 +389085,12 @@ megaloblastic anemia, norwegian type imerslund-grasbeck syndrome 2 + + + + IGS2 + + @@ -321056,6 +389102,12 @@ hypoparathyroidism, familial isolated, 2 hypoparathyroidism, familial isolated, 2 + + + + FIH2 + + @@ -321066,6 +389118,12 @@ proteinuria, chronic benign proteinuria, chronic benign + + + + PROCHOB + + @@ -321090,6 +389148,12 @@ congenital disorder of glycosylation, type iit congenital disorder of glycosylation, type iit + + + + CDG2T + + @@ -321101,6 +389165,12 @@ pseudo-torch syndrome 3 pseudo-torch syndrome 3 + + + + PTORCH3 + + @@ -321124,6 +389194,12 @@ spondyloepimetaphyseal dysplasia, liberfarb type liberfarb syndrome + + + + LIBF + + @@ -321146,6 +389222,12 @@ neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity + + + + NEDBASS + + @@ -321168,6 +389250,12 @@ microcephaly, developmental delay, and brittle hair syndrome microcephaly, developmental delay, and brittle hair syndrome + + + + MDBH + + @@ -321178,6 +389266,12 @@ harderoporphyria harderoporphyria + + + + HARPO + + @@ -321188,6 +389282,12 @@ SRXX5 46,xx sex reversal 5 + + + + SRXX5 + + @@ -321211,6 +389311,12 @@ DALRD3 + + + + DALRD3 + + @@ -321229,6 +389335,12 @@ uniparental disomy, maternal, chromosome 7 silver-russell syndrome 2 + + + + SRS2 + + @@ -321251,6 +389363,12 @@ intellectual developmental disorder with autistic features and language delay, with or without seizures intellectual developmental disorder with autistic features and language delay, with or without seizures + + + + IDDALDS + + @@ -321262,6 +389380,12 @@ silver-russell syndrome 4 silver-russell syndrome 4 + + + + SRS4 + + @@ -321285,6 +389409,12 @@ silver-russell syndrome 5 silver-russell syndrome 5 + + + + SRS5 + + @@ -321309,6 +389439,12 @@ epileptic encephalopathy, early infantile, 86 developmental and epileptic encephalopathy 86 + + + + DEE86 + + @@ -321335,6 +389471,12 @@ sorbitol dehydrogenase deficiency with peripheral neuropathy neuronopathy, distal hereditary motor, autosomal recessive 8 + + + + HMNR8 + + @@ -321347,6 +389489,12 @@ fanconi renotubular syndrome, acadian variant fanconi renotubular syndrome 5 + + + + FRTS5 + + @@ -321369,6 +389517,12 @@ neurodevelopmental, jaw, eye, and digital syndrome neurodevelopmental, jaw, eye, and digital syndrome + + + + NEDJED + + @@ -321392,6 +389546,12 @@ deafness, autosomal dominant 77 deafness, autosomal dominant 77 + + + + DFNA77 + + @@ -321416,6 +389576,12 @@ epileptic encephalopathy, early infantile, 87 developmental and epileptic encephalopathy 87 + + + + DEE87 + + @@ -321438,6 +389604,12 @@ neurodevelopmental disorder with language impairment and behavioral abnormalities neurodevelopmental disorder with language impairment and behavioral abnormalities + + + + NEDLIB + + @@ -321449,6 +389621,12 @@ periventricular nodular heterotopia 9 periventricular nodular heterotopia 9 + + + + PVNH9 + + @@ -321461,6 +389639,12 @@ arrhythmogenic right ventricular dysplasia, familial, 14 arrhythmogenic right ventricular dysplasia, familial, 14 + + + + ARVD14 + + @@ -321483,6 +389667,12 @@ neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities + + + + NEDSHBA + + @@ -321494,6 +389684,12 @@ episodic ataxia, type 9 episodic ataxia, type 9 + + + + EA9 + + @@ -321504,6 +389700,12 @@ agenesis of corpus callosum, cardiac, ocular, and genital syndrome agenesis of corpus callosum, cardiac, ocular, and genital syndrome + + + + ACOGS + + @@ -321527,6 +389729,12 @@ ZNFX1 + + + + ZNFX1 + + @@ -321551,6 +389759,12 @@ granulomatous disease, chronic, due to cybc1 deficiency granulomatous disease, chronic, autosomal recessive, 5 + + + + CGD5 + + @@ -321574,6 +389788,12 @@ treacher collins syndrome 4 treacher collins syndrome 4 + + + + TCS4 + + @@ -321597,6 +389817,12 @@ oculopharyngodistal myopathy 2 oculopharyngodistal myopathy 2 + + + + OPDM2 + + @@ -321621,6 +389847,12 @@ CCDC32 + + + + CCDC32 + + @@ -321633,6 +389865,12 @@ hyper-ige syndrome 5, autosomal recessive, with recurrent infections hyper-ige syndrome 5, autosomal recessive, with recurrent infections + + + + HIES5 + + @@ -321644,6 +389882,12 @@ arthrogryposis multiplex congenita 5 arthrogryposis multiplex congenita 5 + + + + AMC5 + + @@ -321667,6 +389911,12 @@ heterotaxy, visceral, 9, autosomal, with male infertility heterotaxy, visceral, 9, autosomal, with male infertility + + + + HTX9 + + @@ -321689,6 +389939,12 @@ suleiman-el-hattab syndrome suleiman-el-hattab syndrome + + + + SULEHS + + @@ -321712,6 +389968,12 @@ combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency 45 + + + + COXPD45 + + @@ -321735,6 +389997,12 @@ combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency 46 + + + + COXPD46 + + @@ -321745,6 +390013,12 @@ cytochrome p450, family 4, subfamily z, member 2, pseudogene cytochrome p450, family 4, subfamily z, member 2, pseudogene + + + + CYP4Z2P + + @@ -321768,6 +390042,12 @@ retinitis pigmentosa 89 retinitis pigmentosa 89 + + + + RP89 + + @@ -321791,6 +390071,12 @@ combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency 47 + + + + COXPD47 + + @@ -321815,6 +390101,12 @@ epileptic encephalopathy, early infantile, 88 developmental and epileptic encephalopathy 88 + + + + DEE88 + + @@ -321825,6 +390117,12 @@ mitchell syndrome mitchell syndrome + + + + MITCH + + @@ -321847,6 +390145,12 @@ spondylometaphyseal dysplasia with corneal dystrophy spondylometaphyseal dysplasia with corneal dystrophy + + + + SMDCD + + @@ -321860,6 +390164,12 @@ immunodeficiency 69, mycobacteriosis, autosomal recessive immunodeficiency 69 + + + + IMD69 + + @@ -321883,6 +390193,12 @@ immunodeficiency 70 immunodeficiency 70 + + + + IMD70 + + @@ -321905,6 +390221,12 @@ cone-rod synaptic disorder syndrome, congenital nonprogressive cone-rod synaptic disorder syndrome, congenital nonprogressive + + + + CRSDS + + @@ -321928,6 +390250,12 @@ tolchin-le caignec syndrome tolchin-le caignec syndrome + + + + TOLCAS + + @@ -321951,6 +390279,12 @@ mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 19 + + + + MTDPS19 + + @@ -321963,6 +390297,12 @@ sodium-dependent multivitamin transporter deficiency sodium-dependent multivitamin transporter deficiency + + + + SMVTD + + @@ -321985,6 +390325,12 @@ li-ghorbani-weisz-hubshman syndrome li-ghorbani-weisz-hubshman syndrome + + + + LIGOWS + + @@ -322010,6 +390356,12 @@ myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies congenital myopathy 17 + + + + CMYO17 + + @@ -322021,6 +390373,12 @@ optic atrophy 12 optic atrophy 12 + + + + OPA12 + + @@ -322045,6 +390403,12 @@ TMEM163 + + + + TMEM163 + + @@ -322061,6 +390425,12 @@ high density lipoprotein cholesterol level quantitative trait locus 7 high density lipoprotein cholesterol level quantitative trait locus 7 + + + + HDLCQ7 + + @@ -322086,6 +390456,12 @@ CEP112 + + + + CEP112 + + @@ -322112,6 +390488,12 @@ VPS35L + + + + VPS35L + + @@ -322135,6 +390517,12 @@ immunodeficiency 72 with autoinflammation and lymphoproliferation immunodeficiency 72 with autoinflammation and lymphoproliferation + + + + IMD72 + + @@ -322160,6 +390548,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, lewis system + + + + LE + + @@ -322171,6 +390565,12 @@ growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant + + + + GHISID2 + + @@ -322182,6 +390582,12 @@ immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia + + + + IMD73B + + @@ -322193,6 +390599,12 @@ immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia + + + + IMD73C + + @@ -322216,6 +390628,12 @@ CLRN2 + + + + CLRN2 + + @@ -322228,6 +390646,12 @@ muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 + + + + MDDGB15 + + @@ -322257,6 +390681,12 @@ hpd-like protein HPDL + + + + HPDL + + @@ -322280,6 +390710,12 @@ immune dysregulation and systemic hyperinflammation syndrome immune dysregulation and systemic hyperinflammation syndrome + + + + IMDYSHI + + @@ -322303,6 +390739,12 @@ autoinflammation, immune dysregulation, and eosinophilia autoinflammation, immune dysregulation, and eosinophilia + + + + AIIDE + + @@ -322325,6 +390767,12 @@ intellectual developmental disorder with seizures and language delay intellectual developmental disorder with seizures and language delay + + + + IDDSELD + + @@ -322348,6 +390796,12 @@ mitochondrial complex 1 deficiency, nuclear type 35 mitochondrial complex 1 deficiency, nuclear type 35 + + + + MC1DN35 + + @@ -322359,6 +390813,12 @@ developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities deeah syndrome + + + + DEEAH + + @@ -322369,6 +390829,12 @@ neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia + + + + NEDDISH + + @@ -322392,6 +390858,12 @@ retinitis pigmentosa 90 retinitis pigmentosa 90 + + + + RP90 + + @@ -322416,6 +390888,12 @@ oocyte/zygote/embryo maturation arrest 8 oocyte/zygote/embryo maturation arrest 8 + + + + OZEMA8 + + @@ -322428,6 +390906,12 @@ oocyte/zygote/embryo maturation arrest 9 oocyte/zygote/embryo maturation arrest 9 + + + + OZEMA9 + + @@ -322451,6 +390935,12 @@ combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency 48 + + + + COXPD48 + + @@ -322474,6 +390964,12 @@ rajab interstitial lung disease with brain calcifications 2 rajab interstitial lung disease with brain calcifications 2 + + + + RILDBC2 + + @@ -322497,6 +390993,12 @@ TTC5 + + + + TTC5 + + @@ -322509,6 +391011,12 @@ ifap syndrome 2 ifap syndrome 2 + + + + IFAP2 + + @@ -322532,6 +391040,12 @@ combined oxidative phosphorylation deficiency 49 combined oxidative phosphorylation deficiency 49 + + + + COXPD49 + + @@ -322555,6 +391069,12 @@ combined oxidative phosphorylation deficiency 50 combined oxidative phosphorylation deficiency 50 + + + + COXPD50 + + @@ -322566,6 +391086,12 @@ neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities + + + + NEDSWMA + + @@ -322577,6 +391103,12 @@ spastic paraplegia 83, autosomal recessive spastic paraplegia 83, autosomal recessive + + + + SPG83 + + @@ -322600,6 +391132,12 @@ coenzyme Q10 deficiency, primary, 9 coenzyme Q10 deficiency, primary, 9 + + + + COQ10D9 + + @@ -322622,6 +391160,12 @@ skeletal muscle glycogen content and metabolism quantitative trait locus skeletal muscle glycogen content and metabolism quantitative trait locus + + + + SMGMQTL + + @@ -322632,6 +391176,12 @@ intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies + + + + IDDEBF + + @@ -322642,6 +391192,12 @@ vissers-bodmer syndrome vissers-bodmer syndrome + + + + VIBOS + + @@ -322652,6 +391208,12 @@ myopathy, epilepsy, and progressive cerebral atrophy myopathy, epilepsy, and progressive cerebral atrophy + + + + MEPCA + + @@ -322675,6 +391237,12 @@ myofibrillar myopathy 10 myofibrillar myopathy 10 + + + + MFM10 + + @@ -322686,6 +391254,12 @@ monosomy 7 myelodysplasia and leukemia syndrome 2 monosomy 7 myelodysplasia and leukemia syndrome 2 + + + + M7MLS2 + + @@ -322696,6 +391270,12 @@ spinal muscular atrophy, infantile, james type spinal muscular atrophy, infantile, james type + + + + SMAJI + + @@ -322719,6 +391299,12 @@ spermatogenic failure 44 spermatogenic failure 44 + + + + SPGF44 + + @@ -322742,6 +391328,12 @@ mitochondrial complex 4 deficiency, nuclear type 3 mitochondrial complex 4 deficiency, nuclear type 3 + + + + MC4DN3 + + @@ -322765,6 +391357,12 @@ mitochondrial complex 4 deficiency, nuclear type 4 mitochondrial complex 4 deficiency, nuclear type 4 + + + + MC4DN4 + + @@ -322788,6 +391386,12 @@ mitochondrial complex 4 deficiency, nuclear type 7 mitochondrial complex 4 deficiency, nuclear type 7 + + + + MC4DN7 + + @@ -322811,6 +391415,12 @@ mitochondrial complex 4 deficiency, nuclear type 8 mitochondrial complex 4 deficiency, nuclear type 8 + + + + MC4DN8 + + @@ -322834,6 +391444,12 @@ mitochondrial complex 4 deficiency, nuclear type 10 mitochondrial complex 4 deficiency, nuclear type 10 + + + + MC4DN10 + + @@ -322857,6 +391473,12 @@ mitochondrial complex 4 deficiency, nuclear type 11 mitochondrial complex 4 deficiency, nuclear type 11 + + + + MC4DN11 + + @@ -322880,6 +391502,12 @@ mitochondrial complex 4 deficiency, nuclear type 12 mitochondrial complex 4 deficiency, nuclear type 12 + + + + MC4DN12 + + @@ -322890,6 +391518,12 @@ neurodevelopmental disorder with speech impairment and dysmorphic facies neurodevelopmental disorder with speech impairment and dysmorphic facies + + + + NEDSID + + @@ -322913,6 +391547,12 @@ combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency 51 + + + + COXPD51 + + @@ -322936,6 +391576,12 @@ mitochondrial complex 4 deficiency, nuclear type 14 mitochondrial complex 4 deficiency, nuclear type 14 + + + + MC4DN14 + + @@ -322959,6 +391605,12 @@ mitochondrial complex 4 deficiency, nuclear type 15 mitochondrial complex 4 deficiency, nuclear type 15 + + + + MC4DN15 + + @@ -322982,6 +391634,12 @@ mitochondrial complex 4 deficiency, nuclear type 16 mitochondrial complex 4 deficiency, nuclear type 16 + + + + MC4DN16 + + @@ -323005,6 +391663,12 @@ mitochondrial complex 4 deficiency, nuclear type 17 mitochondrial complex 4 deficiency, nuclear type 17 + + + + MC4DN17 + + @@ -323028,6 +391692,12 @@ mitochondrial complex 4 deficiency, nuclear type 18 mitochondrial complex 4 deficiency, nuclear type 18 + + + + MC4DN18 + + @@ -323051,6 +391721,12 @@ mitochondrial complex 4 deficiency, nuclear type 19 mitochondrial complex 4 deficiency, nuclear type 19 + + + + MC4DN19 + + @@ -323074,6 +391750,12 @@ mitochondrial complex 4 deficiency, nuclear type 20 mitochondrial complex 4 deficiency, nuclear type 20 + + + + MC4DN20 + + @@ -323097,6 +391779,12 @@ mitochondrial complex 4 deficiency, nuclear type 21 mitochondrial complex 4 deficiency, nuclear type 21 + + + + MC4DN21 + + @@ -323120,6 +391808,12 @@ leukodystrophy, hypomyelinating, 20 leukodystrophy, hypomyelinating, 20 + + + + HLD20 + + @@ -323142,6 +391836,12 @@ neurodevelopmental disorder with seizures and brain atrophy neurodevelopmental disorder with seizures and brain atrophy + + + + NEDSEBA + + @@ -323164,6 +391864,12 @@ vitamin d-dependent rickets, type 3 vitamin d-dependent rickets, type 3 + + + + VDDR3 + + @@ -323186,6 +391892,12 @@ cleft palate, proliferative retinopathy, and developmental delay cleft palate, proliferative retinopathy, and developmental delay + + + + CPPRDD + + @@ -323209,6 +391921,12 @@ neurodevelopmental disorder with alopecia and brain abnormalities bachmann-bupp syndrome + + + + BABS + + @@ -323231,6 +391949,12 @@ neurodevelopmental disorder with microcephaly, seizures, and brain atrophy neurodevelopmental disorder with microcephaly, seizures, and brain atrophy + + + + NEDMISB + + @@ -323254,6 +391978,12 @@ inflammatory bowel disease (crohn disease) 30 inflammatory bowel disease (crohn disease) 30 + + + + IBD30 + + @@ -323264,6 +391994,12 @@ kilquist syndrome kilquist syndrome + + + + KILQS + + @@ -323275,6 +392011,12 @@ deafness, autosomal dominant 78 deafness, autosomal dominant 78 + + + + DFNA78 + + @@ -323297,6 +392039,12 @@ microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 + + + + MRCS1 + + @@ -323307,6 +392055,12 @@ delpire-mcneill syndrome delpire-mcneill syndrome + + + + DELMNES + + @@ -323330,6 +392084,12 @@ deafness, autosomal dominant 79 deafness, autosomal dominant 79 + + + + DFNA79 + + @@ -323353,6 +392113,12 @@ noonan syndrome 13 noonan syndrome 13 + + + + NS13 + + @@ -323363,6 +392129,12 @@ developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy + + + + DIGFAN + + @@ -323373,6 +392145,12 @@ neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities + + + + NEDMILG + + @@ -323383,6 +392161,12 @@ neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities + + + + NEDMILEG + + @@ -323406,6 +392190,12 @@ deafness, autosomal recessive 116 deafness, autosomal recessive 116 + + + + DFNB116 + + @@ -323429,6 +392219,12 @@ spermatogenic failure 45 spermatogenic failure 45 + + + + SPGF45 + + @@ -323452,6 +392248,12 @@ spermatogenic failure 46 spermatogenic failure 46 + + + + SPGF46 + + @@ -323463,6 +392265,12 @@ mismatch repair cancer syndrome 2 mismatch repair cancer syndrome 2 + + + + MMRCS2 + + @@ -323474,6 +392282,12 @@ mismatch repair cancer syndrome 3 mismatch repair cancer syndrome 3 + + + + MMRCS3 + + @@ -323500,6 +392314,12 @@ M1AP + + + + M1AP + + @@ -323522,6 +392342,12 @@ intellectual developmental disorder with speech delay and axonal peripheral neuropathy intellectual developmental disorder with speech delay and axonal peripheral neuropathy + + + + IDDSAPN + + @@ -323533,6 +392359,12 @@ mismatch repair cancer syndrome 4 mismatch repair cancer syndrome 4 + + + + MMRCS4 + + @@ -323544,6 +392376,12 @@ spermatogenic failure 47 spermatogenic failure 47 + + + + SPGF47 + + @@ -323566,6 +392404,12 @@ neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities + + + + NEDFASB + + @@ -323589,6 +392433,12 @@ spermatogenic failure 48 spermatogenic failure 48 + + + + SPGF48 + + @@ -323613,6 +392463,12 @@ YIF1B + + + + YIF1B + + @@ -323636,6 +392492,12 @@ arthrogryposis, distal, type 1c arthrogryposis, distal, type 1c + + + + DA1C + + @@ -323646,6 +392508,12 @@ coach syndrome 2 coach syndrome 2 + + + + COACH2 + + @@ -323661,6 +392529,12 @@ spinal muscular atrophy, distal, harding type 5c neuronopathy, distal hereditary motor, autosomal dominant 13 + + + + HMND13 + + @@ -323671,6 +392545,12 @@ coach syndrome 3 coach syndrome 3 + + + + COACH3 + + @@ -323683,6 +392563,12 @@ oieds syndrome 1 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 + + + + OIEDS1 + + @@ -323695,6 +392581,12 @@ oieds syndrome 2 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 + + + + OIEDS2 + + @@ -323717,6 +392609,12 @@ neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities + + + + NEDCASB + + @@ -323739,6 +392637,12 @@ vertebral hypersegmentation and orofacial anomalies vertebral hypersegmentation and orofacial anomalies + + + + VHO + + @@ -323761,6 +392665,12 @@ cardiofacioneurodevelopmental syndrome cardiofacioneurodevelopmental syndrome + + + + CFNDS + + @@ -323784,6 +392694,12 @@ developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy 89 + + + + DEE89 + + @@ -323806,6 +392722,12 @@ kaya-barakat-masson syndrome kaya-barakat-masson syndrome + + + + KABAMAS + + @@ -323817,6 +392739,12 @@ immunodeficiency 75 with lymphoproliferation immunodeficiency 75 with lymphoproliferation + + + + IMD75 + + @@ -323839,6 +392767,12 @@ mandibuloacral dysplasia progeroid syndrome mandibuloacral dysplasia progeroid syndrome + + + + MDPS + + @@ -323862,6 +392796,12 @@ CFAP58 + + + + CFAP58 + + @@ -323886,6 +392826,12 @@ thrombocytopenia, autosomal dominant, 7 thrombocytopenia 7 + + + + THC7 + + @@ -323909,6 +392855,12 @@ osteogenesis imperfecta, type 21 osteogenesis imperfecta, type 21 + + + + OI21 + + @@ -323921,6 +392873,12 @@ frontotemporal dementia and/or amyotrophic lateral sclerosis 8 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 + + + + FTDALS8 + + @@ -323932,6 +392890,12 @@ amyotrophic lateral sclerosis 26 with or without frontotemporal dementia amyotrophic lateral sclerosis 26 with or without frontotemporal dementia + + + + ALS26 + + @@ -323955,6 +392919,12 @@ ritscher-schinzel syndrome 3 ritscher-schinzel syndrome 3 + + + + RTSC3 + + @@ -323979,6 +392949,12 @@ frontotemporal dementia and/or amyotrophic lateral sclerosis 5 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 + + + + FTDALS5 + + @@ -323990,6 +392966,12 @@ cardioacrofacial dysplasia 1 cardioacrofacial dysplasia 1 + + + + CAFD1 + + @@ -324013,6 +392995,12 @@ cardioacrofacial dysplasia 2 cardioacrofacial dysplasia 2 + + + + CAFD2 + + @@ -324036,6 +393024,12 @@ spermatogenic failure 49 spermatogenic failure 49 + + + + SPGF49 + + @@ -324047,6 +393041,12 @@ spermatogenic failure 50 spermatogenic failure 50 + + + + SPGF50 + + @@ -324058,6 +393058,12 @@ premature ovarian failure 17 premature ovarian failure 17 + + + + POF17 + + @@ -324068,6 +393074,12 @@ leukoencephalopathy, progressive, infantile-onset, with or without deafness leukoencephalopathy, progressive, infantile-onset, with or without deafness + + + + LEPID + + @@ -324105,6 +393117,12 @@ lessel-kreienkamp syndrome lessel-kreienkamp syndrome + + + + LESKRES + + @@ -324127,6 +393145,12 @@ intellectual developmental disorder with paroxysmal dyskinesia or seizures intellectual developmental disorder with paroxysmal dyskinesia or seizures + + + + IDDPADS + + @@ -324152,6 +393176,12 @@ bone marrow failure syndrome 7, digenic amed syndrome, digenic + + + + AMEDS + + @@ -324176,6 +393206,12 @@ TBC1D2B + + + + TBC1D2B + + @@ -324199,6 +393235,12 @@ nephrotic syndrome, type 22 nephrotic syndrome, type 22 + + + + NPHS22 + + @@ -324221,6 +393263,12 @@ neurodevelopmental disorder with or without early-onset generalized epilepsy neurodevelopmental disorder with or without early-onset generalized epilepsy + + + + NEDEGE + + @@ -324232,6 +393280,12 @@ carpal tunnel syndrome 2 carpal tunnel syndrome 2 + + + + CTS2 + + @@ -324255,6 +393309,12 @@ immunodeficiency 76 immunodeficiency 76 + + + + IMD76 + + @@ -324278,6 +393338,12 @@ oculocutaneous albinism, type 8 oculocutaneous albinism, type 8 + + + + OCA8 + + @@ -324301,6 +393367,12 @@ mitochondrial complex 2 deficiency, nuclear type 2 mitochondrial complex 2 deficiency, nuclear type 2 + + + + MC2DN2 + + @@ -324312,6 +393384,12 @@ mitochondrial complex 2 deficiency, nuclear type 3 mitochondrial complex 2 deficiency, nuclear type 3 + + + + MC2DN3 + + @@ -324335,6 +393413,12 @@ mitochondrial complex 1 deficiency, nuclear type 36 mitochondrial complex 1 deficiency, nuclear type 36 + + + + MC1DN36 + + @@ -324358,6 +393442,12 @@ hermansky-pudlak syndrome 11 hermansky-pudlak syndrome 11 + + + + HPS11 + + @@ -324381,6 +393471,12 @@ neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities ceroid lipofuscinosis, neuronal, 15 + + + + CLN15 + + @@ -324404,6 +393500,12 @@ deafness, autosomal recessive 117 deafness, autosomal recessive 117 + + + + DFNB117 + + @@ -324415,6 +393517,12 @@ proteasome-associated autoinflammatory syndrome 5 proteasome-associated autoinflammatory syndrome 5 + + + + PRAAS5 + + @@ -324439,6 +393547,12 @@ oocyte/zygote/embryo maturation arrest 10 oocyte/zygote/embryo maturation arrest 10 + + + + OZEMA10 + + @@ -324462,6 +393576,12 @@ spermatogenic failure 51 spermatogenic failure 51 + + + + SPGF51 + + @@ -324474,6 +393594,12 @@ myopathy, congenital, with eccentric cores myofibrillar myopathy 11 + + + + MFM11 + + @@ -324485,6 +393611,12 @@ microcephaly 26, primary, autosomal dominant microcephaly 26, primary, autosomal dominant + + + + MCPH26 + + @@ -324496,6 +393628,12 @@ microcephaly 27, primary, autosomal dominant microcephaly 27, primary, autosomal dominant + + + + MCPH27 + + @@ -324508,6 +393646,12 @@ polyposis, gastric gastric adenocarcinoma and proximal polyposis of the stomach + + + + GAPPS + + @@ -324531,6 +393675,12 @@ proteasome-associated autoinflammatory syndrome 4 proteasome-associated autoinflammatory syndrome 4 + + + + PRAAS4 + + @@ -324554,6 +393704,12 @@ short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 + + + + SSFSC2 + + @@ -324577,6 +393733,12 @@ joubert syndrome 37 joubert syndrome 37 + + + + JBTS37 + + @@ -324601,6 +393763,12 @@ mental retardation, autosomal dominant 64 intellectual developmental disorder, autosomal dominant 64 + + + + MRD64 + + @@ -324623,6 +393791,12 @@ li-campeau syndrome li-campeau syndrome + + + + LICAS + + @@ -324646,6 +393820,12 @@ epilepsy, progressive myoclonic, 12 epilepsy, progressive myoclonic, 12 + + + + EPM12 + + @@ -324672,6 +393852,12 @@ SLC7A6OS + + + + SLC7A6OS + + @@ -324695,6 +393881,12 @@ neurofacioskeletal syndrome with or without renal agenesis neurofacioskeletal syndrome with or without renal agenesis + + + + NFSRA + + @@ -324705,6 +393897,12 @@ deafness, congenital, and adult-onset progressive leukoencephalopathy deafness, congenital, and adult-onset progressive leukoencephalopathy + + + + DEAPLE + + @@ -324716,6 +393914,12 @@ PGDD 6-phosphogluconate dehydrogenase deficiency + + + + PGDD + + @@ -324739,6 +393943,12 @@ nephrotic syndrome, type 23 nephrotic syndrome, type 23 + + + + NPHS23 + + @@ -324750,6 +393960,12 @@ spermatogenic failure 52 spermatogenic failure 52 + + + + SPGF52 + + @@ -324761,6 +393977,12 @@ premature ovarian failure 18 premature ovarian failure 18 + + + + POF18 + + @@ -324773,6 +393995,12 @@ palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2 olmsted syndrome 2 + + + + OLMS2 + + @@ -324784,6 +394012,12 @@ erythrokeratodermia variabilis et progressiva 7 erythrokeratodermia variabilis et progressiva 7 + + + + EKVP7 + + @@ -324808,6 +394042,12 @@ HS3ST6 + + + + HS3ST6 + + @@ -324830,6 +394070,12 @@ oculomotor-abducens synkinesis oculomotor-abducens synkinesis + + + + OCABSN + + @@ -324855,6 +394101,12 @@ neuropathy, hereditary motor, with myopathic features neuronopathy, distal hereditary motor, autosomal recessive 7 + + + + HMNR7 + + @@ -324872,6 +394124,12 @@ mesomelia of lower extremities with hand and foot anomalies endove syndrome, limb-only type + + + + ENDOVESL + + @@ -324895,6 +394153,12 @@ mesomelia of lower extremities with hand, foot, and brain anomalies endove syndrome, limb-brain type + + + + ENDOVESLB + + @@ -324918,6 +394182,12 @@ C2ORF69 + + + + C2ORF69 + + @@ -324942,6 +394212,12 @@ tpp2 deficiency immunodeficiency 78 with autoimmunity and developmental delay + + + + IMD78 + + @@ -324964,6 +394240,12 @@ sulfide:quinone oxidoreductase deficiency sulfide:quinone oxidoreductase deficiency + + + + SQORD + + @@ -324987,6 +394269,12 @@ immunodeficiency 77 immunodeficiency 77 + + + + IMD77 + + @@ -324998,6 +394286,12 @@ mitochondrial complex 2 deficiency, nuclear type 4 mitochondrial complex 2 deficiency, nuclear type 4 + + + + MC2DN4 + + @@ -325020,6 +394314,12 @@ blistering, acantholytic, of oral and laryngeal mucosa blistering, acantholytic, of oral and laryngeal mucosa + + + + ABOLM + + @@ -325043,6 +394343,12 @@ vertebral, cardiac, tracheoesophageal, renal, and limb defects vertebral, cardiac, tracheoesophageal, renal, and limb defects + + + + VCTERL + + @@ -325053,6 +394359,12 @@ developmental delay with dysmorphic facies and dental anomalies developmental delay with dysmorphic facies and dental anomalies + + + + DEFDA + + @@ -325064,6 +394376,12 @@ kohlschutter-tonz syndrome-like den hoed-de boer-voisin syndrome + + + + DHDBV + + @@ -325086,6 +394404,12 @@ bile acid conjugation defect 1 bile acid conjugation defect 1 + + + + BACD1 + + @@ -325108,6 +394432,12 @@ short stature, oligodontia, dysmorphic facies, and motor delay short stature, oligodontia, dysmorphic facies, and motor delay + + + + SOFM + + @@ -325120,6 +394450,12 @@ immunodeficiency 79 immunodeficiency 79 + + + + IMD79 + + @@ -325130,6 +394466,12 @@ neurodevelopmental disorder with or without autism or seizures neurodevelopmental disorder with or without autism or seizures + + + + NEDAUS + + @@ -325152,6 +394494,12 @@ global developmental delay with speech and behavioral abnormalities global developmental delay with speech and behavioral abnormalities + + + + GDSBA + + @@ -325174,6 +394522,12 @@ neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism + + + + NEDCAFD + + @@ -325197,6 +394551,12 @@ premature ovarian failure 19 premature ovarian failure 19 + + + + POF19 + + @@ -325207,6 +394567,12 @@ vitreoretinopathy with phalangeal epiphyseal dysplasia vitreoretinopathy with phalangeal epiphyseal dysplasia + + + + VPED + + @@ -325230,6 +394596,12 @@ ACTL9 + + + + ACTL9 + + @@ -325253,6 +394625,12 @@ neurodevelopmental disorder with cataracts and variable microcephaly baralle-macken syndrome + + + + BARMACS + + @@ -325277,6 +394655,12 @@ ntcp deficiency hypercholanemia, familial, 2 + + + + FHCA2 + + @@ -325301,6 +394685,12 @@ HRURF + + + + HRURF + + @@ -325324,6 +394714,12 @@ spermatogenic failure 53 spermatogenic failure 53 + + + + SPGF53 + + @@ -325334,6 +394730,12 @@ neurodegeneration with ataxia and late-onset optic atrophy neurodegeneration with ataxia and late-onset optic atrophy + + + + NDAXOA + + @@ -325345,6 +394747,12 @@ spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis + + + + SHILCA + + @@ -325368,6 +394776,12 @@ nephrotic syndrome, type 24 nephrotic syndrome, type 24 + + + + NPHS24 + + @@ -325390,6 +394804,12 @@ neurodevelopmental disorder with dysmorphic facies and variable seizures neurodevelopmental disorder with dysmorphic facies and variable seizures + + + + NEDDFAS + + @@ -325403,6 +394823,12 @@ glanzmann thrombasthenia 2 glanzmann thrombasthenia 2 + + + + GT2 + + @@ -325426,6 +394852,12 @@ neurodevelopmental disorder with dysmorphic facies and cataracts alzahrani-kuwahara syndrome + + + + ALKUS + + @@ -325449,6 +394881,12 @@ odontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia 2 with hearing loss and diabetes + + + + ODCD2 + + @@ -325461,6 +394899,12 @@ glanzmann thrombasthenia-like with macrothrombocytopenia 2 bleeding disorder, platelet-type, 24 + + + + BDPLT24 + + @@ -325484,6 +394928,12 @@ mitochondrial complex 1 deficiency, nuclear type 37 mitochondrial complex 1 deficiency, nuclear type 37 + + + + MC1DN37 + + @@ -325507,6 +394957,12 @@ cimdag syndrome cimdag syndrome + + + + CIMDAG + + @@ -325518,6 +394974,12 @@ deafness, autosomal dominant 80 deafness, autosomal dominant 80 + + + + DFNA80 + + @@ -325541,6 +395003,12 @@ microcephaly, epilepsy, and diabetes syndrome 2 microcephaly, epilepsy, and diabetes syndrome 2 + + + + MEDS2 + + @@ -325563,6 +395031,12 @@ parkinsonism with polyneuropathy parkinsonism with polyneuropathy + + + + PKNPY + + @@ -325574,6 +395048,12 @@ immunodeficiency 14b, autosomal recessive immunodeficiency 14b, autosomal recessive + + + + IMD14B + + @@ -325597,6 +395077,12 @@ TMEM218 + + + + TMEM218 + + @@ -325619,6 +395105,12 @@ neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia + + + + NEDSCAC + + @@ -325642,6 +395134,12 @@ mahvash disease mahvash disease + + + + MVAH + + @@ -325665,6 +395163,12 @@ dystonia 30 dystonia 30 + + + + DYT30 + + @@ -325675,6 +395179,12 @@ blepharophimosis-impaired intellectual development syndrome blepharophimosis-impaired intellectual development syndrome + + + + BIS + + @@ -325699,6 +395209,12 @@ mesomelic dysplasia, steichen-gersdorf type kinsship syndrome + + + + KINS + + @@ -325722,6 +395238,12 @@ pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia, type 14 + + + + PCH14 + + @@ -325745,6 +395267,12 @@ pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia, type 15 + + + + PCH15 + + @@ -325756,6 +395284,12 @@ pontocerebellar hypoplasia, type 1e pontocerebellar hypoplasia, type 1e + + + + PCH1E + + @@ -325779,6 +395313,12 @@ pontocerebellar hypoplasia, type 1f pontocerebellar hypoplasia, type 1f + + + + PCH1F + + @@ -325801,6 +395341,12 @@ neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia + + + + NEDFACH + + @@ -325824,6 +395370,12 @@ leukodystrophy, hypomyelinating, 21 leukodystrophy, hypomyelinating, 21 + + + + HLD21 + + @@ -325846,6 +395398,12 @@ hiatt-neu-cooper neurodevelopmental syndrome hiatt-neu-cooper neurodevelopmental syndrome + + + + HINCONS + + @@ -325868,6 +395426,12 @@ radio-tartaglia syndrome radio-tartaglia syndrome + + + + RATARS + + @@ -325892,6 +395456,12 @@ mcm10 deficiency immunodeficiency 80 with or without congenital cardiomyopathy + + + + IMD80 + + @@ -325914,6 +395484,12 @@ buratti-harel syndrome buratti-harel syndrome + + + + BURHAS + + @@ -325925,6 +395501,12 @@ developmental and epileptic encephalopathy 6b developmental and epileptic encephalopathy 6b + + + + DEE6B + + @@ -325947,6 +395529,12 @@ oculogastrointestinal neurodevelopmental syndrome oculogastrointestinal neurodevelopmental syndrome + + + + OGIN + + @@ -325970,6 +395558,12 @@ lymphatic malformation 9 lymphatic malformation 9 + + + + LMPHM9 + + @@ -325994,6 +395588,12 @@ mental retardation, autosomal dominant 65 intellectual developmental disorder, autosomal dominant 65 + + + + MRD65 + + @@ -326016,6 +395616,12 @@ growth restriction, hypoplastic kidneys, alopecia, and distinctive facies growth restriction, hypoplastic kidneys, alopecia, and distinctive facies + + + + GKAF + + @@ -326026,6 +395632,12 @@ marbach-rustad progeroid syndrome marbach-rustad progeroid syndrome + + + + MARUPS + + @@ -326048,6 +395660,12 @@ neurodevelopmental disorder with seizures and gingival overgrowth neurodevelopmental disorder with seizures and gingival overgrowth + + + + NEDSGO + + @@ -326070,6 +395688,12 @@ hypertriglyceridemia 2 hypertriglyceridemia 2 + + + + HYTG2 + + @@ -326093,6 +395717,12 @@ coffin-siris syndrome 12 coffin-siris syndrome 12 + + + + CSS12 + + @@ -326117,6 +395747,12 @@ intellectual developmental disorder and hypogonadotropic hypogonadism bdv syndrome + + + + BDVS + + @@ -326140,6 +395776,12 @@ leukodystrophy, hypomyelinating, 22 leukodystrophy, hypomyelinating, 22 + + + + HLD22 + + @@ -326150,6 +395792,12 @@ fibromuscular dysplasia, multifocal fibromuscular dysplasia, multifocal + + + + FMDMF + + @@ -326175,6 +395823,12 @@ transmembrane protein 251 LYSET + + + + LYSET + + @@ -326197,6 +395851,12 @@ neurodevelopmental disorder with cerebellar atrophy and motor dysfunction neurodevelopmental disorder with cerebellar atrophy and motor dysfunction + + + + NEDCAM + + @@ -326208,6 +395868,12 @@ arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita 6 + + + + AMC6 + + @@ -326218,6 +395884,12 @@ cataracts, spastic paraparesis, and speech delay cataracts, spastic paraparesis, and speech delay + + + + CSPSD + + @@ -326229,6 +395901,12 @@ popliteal pterygium syndrome, bartsocas-papas type 2 bartsocas-papas syndrome 2 + + + + BPS2 + + @@ -326252,6 +395930,12 @@ developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy 96 + + + + DEE96 + + @@ -326283,6 +395967,12 @@ dysostosis multiplex, ain-naz type dysostosis multiplex, ain-naz type + + + + DMAN + + @@ -326293,6 +395983,12 @@ visceral myopathy 2 visceral myopathy 2 + + + + VSCM2 + + @@ -326304,6 +396000,12 @@ megacystis-microcolon-intestinal hypoperistalsis syndrome 2 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 + + + + MMIHS2 + + @@ -326326,6 +396028,12 @@ ataxia, intention tremor, and hypotonia syndrome, childhood-onset ataxia, intention tremor, and hypotonia syndrome, childhood-onset + + + + ATITHS + + @@ -326348,6 +396056,12 @@ deafness, cataract, impaired intellectual development, and polyneuropathy deafness, cataract, impaired intellectual development, and polyneuropathy + + + + DCIDP + + @@ -326371,6 +396085,12 @@ mitochondrial complex 4 deficiency, nuclear type 22 mitochondrial complex 4 deficiency, nuclear type 22 + + + + MC4DN22 + + @@ -326395,6 +396115,12 @@ oors syndrome onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome + + + + OORS + + @@ -326406,6 +396132,12 @@ angioedema, hereditary, 4 angioedema, hereditary, 4 + + + + HAE4 + + @@ -326429,6 +396161,12 @@ angioedema, hereditary, 5 angioedema, hereditary, 5 + + + + HAE5 + + @@ -326452,6 +396190,12 @@ megacystis-microcolon-intestinal hypoperistalsis syndrome 3 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 + + + + MMIHS3 + + @@ -326463,6 +396207,12 @@ angioedema, hereditary, 6 angioedema, hereditary, 6 + + + + HAE6 + + @@ -326486,6 +396236,12 @@ megacystis-microcolon-intestinal hypoperistalsis syndrome 4 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 + + + + MMIHS4 + + @@ -326509,6 +396265,12 @@ angioedema, hereditary, 7 angioedema, hereditary, 7 + + + + HAE7 + + @@ -326532,6 +396294,12 @@ angioedema, hereditary, 8 angioedema, hereditary, 8 + + + + HAE8 + + @@ -326555,6 +396323,12 @@ lymphatic malformation 10 lymphatic malformation 10 + + + + LMPHM10 + + @@ -326578,6 +396352,12 @@ cardiomyopathy, dilated, 2d cardiomyopathy, dilated, 2d + + + + CMD2D + + @@ -326600,6 +396380,12 @@ neurodevelopmental disorder with infantile epileptic spasms neurodevelopmental disorder with infantile epileptic spasms + + + + NEDIES + + @@ -326623,6 +396409,12 @@ immunodeficiency 81 immunodeficiency 81 + + + + IMD81 + + @@ -326645,6 +396437,12 @@ autoinflammatory syndrome, familial, with or without immunodeficiency autoinflammatory syndrome, familial, with or without immunodeficiency + + + + AISIMD + + @@ -326667,6 +396465,12 @@ faundes-banka syndrome faundes-banka syndrome + + + + FABAS + + @@ -326690,6 +396494,12 @@ osteootohepatoenteric syndrome osteootohepatoenteric syndrome + + + + OOHE + + @@ -326713,6 +396523,12 @@ SNORA31 + + + + SNORA31 + + @@ -326736,6 +396552,12 @@ spermatogenic failure 54 spermatogenic failure 54 + + + + SPGF54 + + @@ -326759,6 +396581,12 @@ spermatogenic failure 55 spermatogenic failure 55 + + + + SPGF55 + + @@ -326782,6 +396610,12 @@ immunodeficiency 82 with systemic inflammation immunodeficiency 82 with systemic inflammation + + + + IMD82 + + @@ -326808,6 +396642,12 @@ mitochondrial complex 1 deficiency, nuclear type 38 leber-like hereditary optic neuropathy, autosomal recessive 1 + + + + LHONAR1 + + @@ -326830,6 +396670,12 @@ neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities + + + + NEDHFBA + + @@ -326853,6 +396699,12 @@ combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 + + + + COXPD52 + + @@ -326877,6 +396729,12 @@ CATIP + + + + CATIP + + @@ -326902,6 +396760,12 @@ spinocerebellar ataxia, autosomal recessive 29 spinocerebellar ataxia, autosomal recessive 29 + + + + SCAR29 + + @@ -326926,6 +396790,12 @@ herpes simplex encephalitis, susceptibility to, 7 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 + + + + IIAE10 + + @@ -326950,6 +396820,12 @@ inflammatory bowel disease, early-onset, autosomal recessive inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive + + + + IBD31 + + @@ -326960,6 +396836,12 @@ visceral leiomyopathy, african degenerative visceral leiomyopathy, african degenerative + + + + ADL + + @@ -326983,6 +396865,12 @@ lymphatic malformation 11 lymphatic malformation 11 + + + + LMPHM11 + + @@ -327006,6 +396894,12 @@ cardiomyopathy, familial hypertrophic, 28 cardiomyopathy, familial hypertrophic, 28 + + + + CMH28 + + @@ -327029,6 +396923,12 @@ spinocerebellar ataxia, autosomal recessive 30 spinocerebellar ataxia, autosomal recessive 30 + + + + SCAR30 + + @@ -327051,6 +396951,12 @@ hypokalemic tubulopathy and deafness hypokalemic tubulopathy and deafness + + + + HKTD + + @@ -327075,6 +396981,12 @@ whim syndrome 2 whim syndrome 2 + + + + WHIMS2 + + @@ -327086,6 +396998,12 @@ neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 + + + + IMNEPD2 + + @@ -327097,6 +397015,12 @@ martsolf syndrome 2 martsolf syndrome 2 + + + + MARTS2 + + @@ -327120,6 +397044,12 @@ spinocerebellar ataxia, autosomal recessive 31 spinocerebellar ataxia, autosomal recessive 31 + + + + SCAR31 + + @@ -327145,6 +397075,12 @@ global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation combined oxidative phosphorylation deficiency 53 + + + + COXPD53 + + @@ -327155,6 +397091,12 @@ myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy + + + + MFM12 + + @@ -327167,6 +397109,12 @@ mitochondrial dna depletion syndrome 16b mitochondrial DNA depletion syndrome 16b (neuroophthalmic type) + + + + MTDPS16B + + @@ -327196,6 +397144,12 @@ white-kernohan syndrome white-kernohan syndrome + + + + WHIKERS + + @@ -327218,6 +397172,12 @@ focal segmental glomerulosclerosis and neurodevelopmental syndrome focal segmental glomerulosclerosis and neurodevelopmental syndrome + + + + FSGSNEDS + + @@ -327229,6 +397189,12 @@ megacystis-microcolon-intestinal hypoperistalsis syndrome 5 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 + + + + MMIHS5 + + @@ -327252,6 +397218,12 @@ cardiomyopathy, familial restrictive, 6 cardiomyopathy, familial restrictive, 6 + + + + RCM6 + + @@ -327275,6 +397247,12 @@ ritscher-schinzel syndrome 4 ritscher-schinzel syndrome 4 + + + + RTSC4 + + @@ -327298,6 +397276,12 @@ ciliary dyskinesia, primary, 46 ciliary dyskinesia, primary, 46 + + + + CILD46 + + @@ -327321,6 +397305,12 @@ immunodeficiency 84 immunodeficiency 84 + + + + IMD84 + + @@ -327332,6 +397322,12 @@ encephalitis, acute, infection (viral)-induced, susceptibility to, 11 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 + + + + IIAE11 + + @@ -327344,6 +397340,12 @@ microvillus inclusion disease 2 diarrhea 12, with microvillus atrophy + + + + DIAR12 + + @@ -327354,6 +397356,12 @@ retinal dystrophy and microvillus inclusion disease retinal dystrophy and microvillus inclusion disease + + + + RDMVID + + @@ -327377,6 +397385,12 @@ RRP7A + + + + RRP7A + + @@ -327400,6 +397414,12 @@ cutis laxa, autosomal recessive, type 2e cutis laxa, autosomal recessive, type 2e + + + + ARCL2E + + @@ -327423,6 +397443,12 @@ anencephaly 2 anencephaly 2 + + + + ANPH2 + + @@ -327446,6 +397472,12 @@ microcephaly 28, primary, autosomal recessive microcephaly 28, primary, autosomal recessive + + + + MCPH28 + + @@ -327468,6 +397500,12 @@ luo-schoch-yamamoto syndrome luo-schoch-yamamoto syndrome + + + + LUSYAM + + @@ -327479,6 +397517,12 @@ myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive + + + + CMS7B + + @@ -327491,6 +397535,12 @@ rh fetomaternal incompatibility hemolytic disease of fetus and newborn, rh-induced + + + + HDFNRH + + @@ -327514,6 +397564,12 @@ portal hypertension, noncirrhotic, 2 portal hypertension, noncirrhotic, 2 + + + + NCPH2 + + @@ -327524,6 +397580,12 @@ sick sinus syndrome 4 sick sinus syndrome 4 + + + + SSS4 + + @@ -327535,6 +397597,12 @@ visceral neuropathy, familial, 2, autosomal recessive visceral neuropathy, familial, 2, autosomal recessive + + + + VSCN2 + + @@ -327558,6 +397626,12 @@ ciliary dyskinesia, primary, 47, and lissencephaly ciliary dyskinesia, primary, 47, and lissencephaly + + + + CILD47 + + @@ -327568,6 +397642,12 @@ usmani-riazuddin syndrome, autosomal dominant usmani-riazuddin syndrome, autosomal dominant + + + + USRISD + + @@ -327591,6 +397671,12 @@ nephronophthisis-like nephropathy 2 nephronophthisis-like nephropathy 2 + + + + NPHPL2 + + @@ -327615,6 +397701,12 @@ TMEM222 + + + + TMEM222 + + @@ -327637,6 +397729,12 @@ neurodevelopmental disorder with motor and speech delay and behavioral abnormalities neurodevelopmental disorder with motor and speech delay and behavioral abnormalities + + + + NEDMOSBA + + @@ -327648,6 +397746,12 @@ bardet-biedl syndrome 20 bardet-biedl syndrome 20 + + + + BBS20 + + @@ -327671,6 +397775,12 @@ viss syndrome viss syndrome + + + + VISS + + @@ -327682,6 +397792,12 @@ oculopharyngodistal myopathy 3 oculopharyngodistal myopathy 3 + + + + OPDM3 + + @@ -327704,6 +397820,12 @@ developmental delay, impaired speech, and behavioral abnormalities developmental delay, impaired speech, and behavioral abnormalities + + + + DDISBA + + @@ -327715,6 +397837,12 @@ joubert syndrome 38 joubert syndrome 38 + + + + JBTS38 + + @@ -327738,6 +397866,12 @@ facioscapulohumeral muscular dystrophy 3, digenic facioscapulohumeral muscular dystrophy 3, digenic + + + + FSHD3 + + @@ -327749,6 +397883,12 @@ facioscapulohumeral muscular dystrophy 4, digenic facioscapulohumeral muscular dystrophy 4, digenic + + + + FSHD4 + + @@ -327760,6 +397900,12 @@ short-rib thoracic dysplasia 21 without polydactyly short-rib thoracic dysplasia 21 without polydactyly + + + + SRTD21 + + @@ -327782,6 +397928,12 @@ neurodevelopmental disorder with dysmorphic facies and thin corpus callosum neurodevelopmental disorder with dysmorphic facies and thin corpus callosum + + + + NEDDFAC + + @@ -327804,6 +397956,12 @@ bile acid malabsorption, primary, 2 bile acid malabsorption, primary, 2 + + + + PBAM2 + + @@ -327827,6 +397985,12 @@ central hypoventilation syndrome, congenital, 2, and autonomic dysfunction central hypoventilation syndrome, congenital, 2, and autonomic dysfunction + + + + CCHS2 + + @@ -327850,6 +398014,12 @@ central hypoventilation syndrome, congenital, 3 central hypoventilation syndrome, congenital, 3 + + + + CCHS3 + + @@ -327873,6 +398043,12 @@ cholestasis, progressive familial intrahepatic, 6 cholestasis, progressive familial intrahepatic, 6 + + + + PFIC6 + + @@ -327898,6 +398074,12 @@ PAPPA2 + + + + PAPPA2 + + @@ -327921,6 +398103,12 @@ aicardi-goutieres syndrome 8 aicardi-goutieres syndrome 8 + + + + AGS8 + + @@ -327944,6 +398132,12 @@ aicardi-goutieres syndrome 9 aicardi-goutieres syndrome 9 + + + + AGS9 + + @@ -327967,6 +398161,12 @@ developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities degcags syndrome + + + + DEGCAGS + + @@ -327989,6 +398189,12 @@ short stature, dauber-argente type short stature, dauber-argente type + + + + SSDA + + @@ -328012,6 +398218,12 @@ LMBRD2 + + + + LMBRD2 + + @@ -328023,6 +398235,12 @@ parkinson disease 24, autosomal dominant, susceptibility to parkinson disease 24, autosomal dominant, susceptibility to + + + + PARK24 + + @@ -328034,6 +398252,12 @@ cardiomyopathy, dilated, 2e cardiomyopathy, dilated, 2e + + + + CMD2E + + @@ -328057,6 +398281,12 @@ congenital disorder of glycosylation, type 2v congenital disorder of glycosylation, type 2v + + + + CDG2V + + @@ -328068,6 +398298,12 @@ deafness, autosomal dominant 81 deafness, autosomal dominant 81 + + + + DFNA81 + + @@ -328078,6 +398314,12 @@ ventriculomegaly and arthrogryposis ventriculomegaly and arthrogryposis + + + + VENARG + + @@ -328088,6 +398330,12 @@ neurodevelopmental disorder with hypotonia and dysmorphic facies neurodevelopmental disorder with hypotonia and dysmorphic facies + + + + NEDHYDF + + @@ -328110,6 +398358,12 @@ chopra-amiel-gordon syndrome chopra-amiel-gordon syndrome + + + + CAGS + + @@ -328133,6 +398387,12 @@ immunodeficiency 85 and autoimmunity immunodeficiency 85 and autoimmunity + + + + IMD85 + + @@ -328143,6 +398403,12 @@ neurodevelopmental disorder with hypotonia and brain abnormalities neurodevelopmental disorder with hypotonia and brain abnormalities + + + + NEDHYBA + + @@ -328166,6 +398432,12 @@ spermatogenic failure 56 spermatogenic failure 56 + + + + SPGF56 + + @@ -328176,6 +398448,12 @@ neurodevelopmental disorder with seizures and brain abnormalities neurodevelopmental disorder with seizures and brain abnormalities + + + + NEDSBA + + @@ -328198,6 +398476,12 @@ muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome + + + + MDHLO + + @@ -328222,6 +398506,12 @@ charcot-marie-tooth neuropathy, type 2ff charcot-marie-tooth disease, axonal, type 2ff + + + + CMT2FF + + @@ -328233,6 +398523,12 @@ epilepsy, idiopathic generalized, susceptibility to, 18 epilepsy, idiopathic generalized, susceptibility to, 18 + + + + EIG18 + + @@ -328255,6 +398551,12 @@ neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities + + + + NECRC + + @@ -328278,6 +398580,12 @@ anemia, sideroblastic, 5 anemia, sideroblastic, 5 + + + + SIDBA5 + + @@ -328289,6 +398597,12 @@ congenital disorder of glycosylation, type iiw congenital disorder of glycosylation, type iiw + + + + CDG2W + + @@ -328300,6 +398614,12 @@ pontocerebellar hypoplasia, type 16 pontocerebellar hypoplasia, type 16 + + + + PCH16 + + @@ -328323,6 +398643,12 @@ spermatogenic failure 57 spermatogenic failure 57 + + + + SPGF57 + + @@ -328348,6 +398674,12 @@ PNLDC1 + + + + PNLDC1 + + @@ -328371,6 +398703,12 @@ cone-rod dystrophy 22 cone-rod dystrophy 22 + + + + CORD22 + + @@ -328388,6 +398726,12 @@ brens syndrome biliary, renal, neurologic, and skeletal syndrome + + + + BRENS + + @@ -328399,6 +398743,12 @@ cerebral cavernous malformations 4 cerebral cavernous malformations 4 + + + + CCM4 + + @@ -328422,6 +398772,12 @@ neuroocular syndrome 1 neuroocular syndrome 1 + + + + NOC1 + + @@ -328433,6 +398789,12 @@ king-denborough syndrome king-denborough syndrome + + + + KDS + + @@ -328456,6 +398818,12 @@ tall stature and long digits with extra epiphyses boudin-mortier syndrome + + + + BOMOS + + @@ -328472,6 +398840,12 @@ hypoplastic femurs and pelvis hypoplastic femurs and pelvis + + + + HYPOFP + + @@ -328482,6 +398856,12 @@ usmani-riazuddin syndrome, autosomal recessive usmani-riazuddin syndrome, autosomal recessive + + + + USRISR + + @@ -328506,6 +398886,12 @@ immunodeficiency 86, mycobacteriosis, autosomal recessive immunodeficiency 86 + + + + IMD86 + + @@ -328523,6 +398909,12 @@ deafness, autosomal recessive 118, with cochlear aplasia deafness, autosomal recessive 118, with cochlear aplasia + + + + DFNB118 + + @@ -328535,6 +398927,12 @@ epidermolysis bullosa simplex 2a, generalized severe epidermolysis bullosa simplex 2a, generalized severe + + + + EBS2A + + @@ -328557,6 +398955,12 @@ intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies + + + + IDDHISD + + @@ -328580,6 +398984,12 @@ simha syndrome short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies + + + + SIMHA + + @@ -328603,6 +399013,12 @@ developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy 97 + + + + DEE97 + + @@ -328626,6 +399042,12 @@ joubert syndrome 39 joubert syndrome 39 + + + + JBTS39 + + @@ -328651,6 +399073,12 @@ CLXN + + + + CLXN + + @@ -328675,6 +399103,12 @@ zech-boesch syndrome dystonia 31 + + + + DYT31 + + @@ -328698,6 +399132,12 @@ muscular dystrophy, limb-girdle, autosomal recessive 27 muscular dystrophy, limb-girdle, autosomal recessive 27 + + + + LGMDR27 + + @@ -328721,6 +399161,12 @@ immunodeficiency 87 and autoimmunity immunodeficiency 87 and autoimmunity + + + + IMD87 + + @@ -328733,6 +399179,12 @@ charcot-marie-tooth neuropathy, type 2hh charcot-marie-tooth disease, axonal, type 2hh + + + + CMT2HH + + @@ -328755,6 +399207,12 @@ developmental delay with or without intellectual impairment or behavioral abnormalities developmental delay with or without intellectual impairment or behavioral abnormalities + + + + DDIB + + @@ -328777,6 +399235,12 @@ cerebellar ataxia, brain abnormalities, and cardiac conduction defects cerebellar ataxia, brain abnormalities, and cardiac conduction defects + + + + CABAC + + @@ -328807,6 +399271,12 @@ spermatogenesis-associated protein 5-like 1 AFG2B + + + + AFG2B + + @@ -328817,6 +399287,12 @@ neurodevelopmental disorder with impaired language and ataxia and with or without seizures neurodevelopmental disorder with impaired language and ataxia and with or without seizures + + + + NEDLAS + + @@ -328828,6 +399304,12 @@ joubert syndrome 40 joubert syndrome 40 + + + + JBTS40 + + @@ -328839,6 +399321,12 @@ spermatogenic failure 58 spermatogenic failure 58 + + + + SPGF58 + + @@ -328851,6 +399339,12 @@ epidermolysis bullosa simplex 2b, koebner type epidermolysis bullosa simplex 2b, generalized intermediate + + + + EBS2B + + @@ -328875,6 +399369,12 @@ cataract 49 cataract 49 + + + + CTRCT49 + + @@ -328887,6 +399387,12 @@ epidermolysis bullosa simplex 2c, weber-cockayne type epidermolysis bullosa simplex 2c, localized + + + + EBS2C + + @@ -328897,6 +399403,12 @@ developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities + + + + DEHMBA + + @@ -328907,6 +399419,12 @@ rhizomelic dysplasia, ain-naz type rhizomelic dysplasia, ain-naz type + + + + RHZDAN + + @@ -328918,6 +399436,12 @@ epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive + + + + EBS2D + + @@ -328942,6 +399466,12 @@ AOPEP + + + + AOPEP + + @@ -328952,6 +399482,12 @@ fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies + + + + FARIMPD + + @@ -328975,6 +399511,12 @@ galloway-mowat syndrome 9 galloway-mowat syndrome 9 + + + + GAMOS9 + + @@ -328986,6 +399528,12 @@ developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy 98 + + + + DEE98 + + @@ -328997,6 +399545,12 @@ developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy 99 + + + + DEE99 + + @@ -329020,6 +399574,12 @@ heterotaxy, visceral, 10, autosomal, with male infertility heterotaxy, visceral, 10, autosomal, with male infertility + + + + HTX10 + + @@ -329043,6 +399603,12 @@ heterotaxy, visceral, 11, autosomal, with male infertility heterotaxy, visceral, 11, autosomal, with male infertility + + + + HTX11 + + @@ -329066,6 +399632,12 @@ galloway-mowat syndrome 10 galloway-mowat syndrome 10 + + + + GAMOS10 + + @@ -329089,6 +399661,12 @@ interstitial lung disease 1 interstitial lung disease 1 + + + + ILD1 + + @@ -329100,6 +399678,12 @@ delayed puberty, self-limited delayed puberty, self-limited + + + + DPSL + + @@ -329123,6 +399707,12 @@ retinitis pigmentosa 92 retinitis pigmentosa 92 + + + + RP92 + + @@ -329134,6 +399724,12 @@ deafness, autosomal recessive 119 deafness, autosomal recessive 119 + + + + DFNB119 + + @@ -329144,6 +399740,12 @@ neurodevelopmental disorder with hearing loss and spasticity neurodevelopmental disorder with hearing loss and spasticity + + + + NEDHLS + + @@ -329155,6 +399757,12 @@ spastic paraplegia 84, autosomal recessive spastic paraplegia 84, autosomal recessive + + + + SPG84 + + @@ -329167,6 +399775,12 @@ immunodeficiency 88, mycobacteriosis, autosomal recessive immunodeficiency 88 + + + + IMD88 + + @@ -329190,6 +399804,12 @@ immunodeficiency 89 and autoimmunity immunodeficiency 89 and autoimmunity + + + + IMD89 + + @@ -329217,6 +399837,12 @@ ZFYVE19 + + + + ZFYVE19 + + @@ -329228,6 +399854,12 @@ acromesomelic dysplasia 4 acromesomelic dysplasia 4 + + + + AMD4 + + @@ -329239,6 +399871,12 @@ dystonia 32 dystonia 32 + + + + DYT32 + + @@ -329250,6 +399888,12 @@ spondylometaphyseal dysplasia, pagnamenta type spondylometaphyseal dysplasia, pagnamenta type + + + + SMDP + + @@ -329272,6 +399916,12 @@ neurodevelopmental disorder with hypotonia and gross motor and speech delay neurodevelopmental disorder with hypotonia and gross motor and speech delay + + + + NEDHMS + + @@ -329295,6 +399945,12 @@ neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities hengel-maroofian-schols syndrome + + + + HEMARS + + @@ -329319,6 +399975,12 @@ oocyte/zygote/embryo maturation arrest 11 oocyte/zygote/embryo maturation arrest 11 + + + + OZEMA11 + + @@ -329342,6 +400004,12 @@ immunodeficiency 91 and hyperinflammation immunodeficiency 91 and hyperinflammation + + + + IMD91 + + @@ -329365,6 +400033,12 @@ spermatogenic failure 59 spermatogenic failure 59 + + + + SPGF59 + + @@ -329388,6 +400062,12 @@ spermatogenic failure 60 spermatogenic failure 60 + + + + SPGF60 + + @@ -329399,6 +400079,12 @@ dyskinesia with orofacial involvement, autosomal recessive dyskinesia with orofacial involvement, autosomal recessive + + + + DSKOR + + @@ -329422,6 +400108,12 @@ zaki syndrome zaki syndrome + + + + ZKS + + @@ -329448,6 +400140,12 @@ neurodevelopmental disorder with hyperkinetic movements and dyskinesia neurodevelopmental disorder with hyperkinetic movements and dyskinesia + + + + NEDHYD + + @@ -329471,6 +400169,12 @@ immunodeficiency 92 immunodeficiency 92 + + + + IMD92 + + @@ -329493,6 +400197,12 @@ neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus + + + + NEDSTO + + @@ -329516,6 +400226,12 @@ RPL10L + + + + RPL10L + + @@ -329527,6 +400243,12 @@ loeys-dietz syndrome 6 loeys-dietz syndrome 6 + + + + LDS6 + + @@ -329537,6 +400259,12 @@ congenital heart defects, multiple types, 8, with or without heterotaxy congenital heart defects, multiple types, 8, with or without heterotaxy + + + + CHTD8 + + @@ -329560,6 +400288,12 @@ cholestasis, progressive familial intrahepatic, 7, with or without hearing loss cholestasis, progressive familial intrahepatic, 7, with or without hearing loss + + + + PFIC7 + + @@ -329572,6 +400306,12 @@ leukoencephalopathy, hereditary diffuse, with spheroids, swedish type leukoencephalopathy, hereditary diffuse, with spheroids 2 + + + + HDLS2 + + @@ -329595,6 +400335,12 @@ cholestasis, progressive familial intrahepatic, 8 cholestasis, progressive familial intrahepatic, 8 + + + + PFIC8 + + @@ -329618,6 +400364,12 @@ ovarian dysgenesis 9 ovarian dysgenesis 9 + + + + ODG9 + + @@ -329629,6 +400381,12 @@ spermatogenic failure 61 spermatogenic failure 61 + + + + SPGF61 + + @@ -329640,6 +400398,12 @@ spermatogenic failure 62 spermatogenic failure 62 + + + + SPGF62 + + @@ -329662,6 +400426,12 @@ marbach-schaaf neurodevelopmental syndrome marbach-schaaf neurodevelopmental syndrome + + + + MASNS + + @@ -329684,6 +400454,12 @@ dystonia, early-onset, and/or spastic paraplegia dystonia, early-onset, and/or spastic paraplegia + + + + DYTSPG + + @@ -329706,6 +400482,12 @@ neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis + + + + NEDMSC + + @@ -329717,6 +400499,12 @@ spastic paraplegia 85, autosomal recessive spastic paraplegia 85, autosomal recessive + + + + SPG85 + + @@ -329728,6 +400516,12 @@ dystonia 33 dystonia 33 + + + + DYT33 + + @@ -329751,6 +400545,12 @@ leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy + + + + HLD23 + + @@ -329774,6 +400574,12 @@ spermatogenic failure 63 spermatogenic failure 63 + + + + SPGF63 + + @@ -329796,6 +400602,12 @@ brunet-wagner neurodevelopmental syndrome brunet-wagner neurodevelopmental syndrome + + + + BRUWAG + + @@ -329807,6 +400619,12 @@ trichothiodystrophy 8, nonphotosensitive trichothiodystrophy 8, nonphotosensitive + + + + TTD8 + + @@ -329818,6 +400636,12 @@ trichothiodystrophy 9, nonphotosensitive trichothiodystrophy 9, nonphotosensitive + + + + TTD9 + + @@ -329842,6 +400666,12 @@ agammaglobulinemia, autosomal recessive, due to slc39a7 defect agammaglobulinemia 9, autosomal recessive + + + + AGM9 + + @@ -329864,6 +400694,12 @@ developmental delay with variable neurologic and brain abnormalities developmental delay with variable neurologic and brain abnormalities + + + + DENBA + + @@ -329886,6 +400722,12 @@ rauch-steindl syndrome rauch-steindl syndrome + + + + RAUST + + @@ -329897,6 +400739,12 @@ spermatogenic failure 64 spermatogenic failure 64 + + + + SPGF64 + + @@ -329909,6 +400757,12 @@ oocyte/zygote/embryo maturation arrest 12 oocyte/zygote/embryo maturation arrest 12 + + + + OZEMA12 + + @@ -329934,6 +400788,12 @@ mucopolysaccharidosis, type 10 mucopolysaccharidosis, type 10 + + + + MPS10 + + @@ -329956,6 +400816,12 @@ ferguson-bonni neurodevelopmental syndrome ferguson-bonni neurodevelopmental syndrome + + + + FERBON + + @@ -329978,6 +400844,12 @@ yoon-bellen neurodevelopmental syndrome yoon-bellen neurodevelopmental syndrome + + + + YOBELN + + @@ -330000,6 +400872,12 @@ heterotaxy, visceral, 12, autosomal heterotaxy, visceral, 12, autosomal + + + + HTX12 + + @@ -330024,6 +400902,12 @@ CIROP + + + + CIROP + + @@ -330047,6 +400931,12 @@ immunodeficiency 93 and hypertrophic cardiomyopathy immunodeficiency 93 and hypertrophic cardiomyopathy + + + + IMD93 + + @@ -330071,6 +400961,12 @@ agammaglobulinemia, autosomal dominant, due to spi1 defect agammaglobulinemia 10, autosomal dominant + + + + AGM10 + + @@ -330083,6 +400979,12 @@ multiple intestinal atresia with or without leukopenia gastrointestinal defects and immunodeficiency syndrome 2 + + + + GIDID2 + + @@ -330106,6 +401008,12 @@ spermatogenic failure 65 spermatogenic failure 65 + + + + SPGF65 + + @@ -330116,6 +401024,12 @@ congenital disorder of glycosylation, type iw, autosomal dominant congenital disorder of glycosylation, type iw, autosomal dominant + + + + CDG1WAD + + @@ -330139,6 +401053,12 @@ intellectual developmental disorder, autosomal recessive 73 intellectual developmental disorder, autosomal recessive 73 + + + + MRT73 + + @@ -330150,6 +401070,12 @@ hypogonadotropic hypogonadism 26 with or without anosmia hypogonadotropic hypogonadism 26 with or without anosmia + + + + HH26 + + @@ -330160,6 +401086,12 @@ intellectual disability and myopathy syndrome intellectual disability and myopathy syndrome + + + + IDMYS + + @@ -330183,6 +401115,12 @@ bryant-li-bhoj neurodevelopmental syndrome 1 bryant-li-bhoj neurodevelopmental syndrome 1 + + + + BRYLIB1 + + @@ -330206,6 +401144,12 @@ bryant-li-bhoj neurodevelopmental syndrome 2 bryant-li-bhoj neurodevelopmental syndrome 2 + + + + BRYLIB2 + + @@ -330230,6 +401174,12 @@ TMEM53 + + + + TMEM53 + + @@ -330241,6 +401191,12 @@ dystonia 34, myoclonic dystonia 34, myoclonic + + + + DYT34 + + @@ -330251,6 +401207,12 @@ neurodevelopmental disorder with or without variable movement or behavioral abnormalities neurodevelopmental disorder with or without variable movement or behavioral abnormalities + + + + NEDMAB + + @@ -330273,6 +401235,12 @@ craniotubular dysplasia, ikegawa type craniotubular dysplasia, ikegawa type + + + + CTDI + + @@ -330284,6 +401252,12 @@ multisystem proteinopathy 6 inclusion body myopathy and brain white matter abnormalities + + + + IBMWMA + + @@ -330307,6 +401281,12 @@ spastic paraplegia 86, autosomal recessive spastic paraplegia 86, autosomal recessive + + + + SPG86 + + @@ -330318,6 +401298,12 @@ teebi hypertelorism syndrome 2 teebi hypertelorism syndrome 2 + + + + TBHS2 + + @@ -330341,6 +401327,12 @@ combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 54 + + + + COXPD54 + + @@ -330352,6 +401344,12 @@ parkinsonism-dystonia 3, childhood-onset parkinsonism-dystonia 3, childhood-onset + + + + PKDYS3 + + @@ -330364,6 +401362,12 @@ charcot-marie-tooth neuropathy, type 1i charcot-marie-tooth disease, demyelinating, type 1i + + + + CMT1I + + @@ -330387,6 +401391,12 @@ combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 55 + + + + COXPD55 + + @@ -330410,6 +401420,12 @@ noonan syndrome 14 noonan syndrome 14 + + + + NS14 + + @@ -330433,6 +401449,12 @@ cardiomyopathy, dilated, 2f cardiomyopathy, dilated, 2f + + + + CMD2F + + @@ -330444,6 +401466,12 @@ immunodeficiency 94 with autoinflammation and dysmorphic facies immunodeficiency 94 with autoinflammation and dysmorphic facies + + + + IMD94 + + @@ -330455,6 +401483,12 @@ stuve-wiedemann syndrome 2 stuve-wiedemann syndrome 2 + + + + STWS2 + + @@ -330467,6 +401501,12 @@ hyper-ige syndrome 4a, autosomal dominant, with recurrent infections hyper-ige syndrome 4a, autosomal dominant, with recurrent infections + + + + HIES4A + + @@ -330490,6 +401530,12 @@ hypogonadotropic hypogonadism 27 without anosmia hypogonadotropic hypogonadism 27 without anosmia + + + + HH27 + + @@ -330513,6 +401559,12 @@ tessadori-bicknell-van haaften neurodevelopmental syndrome 1 tessadori-bicknell-van haaften neurodevelopmental syndrome 1 + + + + TEBIVANED1 + + @@ -330536,6 +401588,12 @@ tessadori-bicknell-van haaften neurodevelopmental syndrome 2 tessadori-bicknell-van haaften neurodevelopmental syndrome 2 + + + + TEBIVANED2 + + @@ -330546,6 +401604,12 @@ cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism + + + + CDIDHH + + @@ -330556,6 +401620,12 @@ kury-isidor syndrome kury-isidor syndrome + + + + KURIS + + @@ -330570,6 +401640,12 @@ neuropathy, hereditary, with or without age-related macular degeneration charcot-marie-tooth disease, demyelinating, type 1h + + + + CMT1H + + @@ -330593,6 +401669,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 + + + + PFBMFT6 + + @@ -330615,6 +401697,12 @@ macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin + + + + MNDLFH + + @@ -330626,6 +401714,12 @@ immunodeficiency 95 immunodeficiency 95 + + + + IMD95 + + @@ -330649,6 +401743,12 @@ immunodeficiency 96 immunodeficiency 96 + + + + IMD96 + + @@ -330672,6 +401772,12 @@ congenital disorder of deglycosylation 2 congenital disorder of deglycosylation 2 + + + + CDDG2 + + @@ -330697,6 +401803,12 @@ C2CD6 + + + + C2CD6 + + @@ -330720,6 +401832,12 @@ developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy 100 + + + + DEE100 + + @@ -330745,6 +401863,12 @@ mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related mitochondrial DNA depletion syndrome 20 (mngie type) + + + + MTDPS20 + + @@ -330774,6 +401898,12 @@ myopia 28, autosomal recessive myopia 28, autosomal recessive + + + + MYP28 + + @@ -330787,6 +401917,12 @@ epidermolysis bullosa, junctional 2a, non-herlitz type epidermolysis bullosa, junctional 2a, intermediate + + + + JEB2A + + @@ -330800,6 +401936,12 @@ epidermolysis bullosa, junctional 2b, severe epidermolysis bullosa, junctional 2b, severe + + + + JEB2B + + @@ -330813,6 +401955,12 @@ epidermolysis bullosa, junctional 3a, non-herlitz type epidermolysis bullosa, junctional 3a, intermediate + + + + JEB3A + + @@ -330826,6 +401974,12 @@ epidermolysis bullosa, junctional 3b, severe epidermolysis bullosa, junctional 3b, severe + + + + JEB3B + + @@ -330840,6 +401994,12 @@ epidermolysis bullosa, junctional, localisata variant epidermolysis bullosa, junctional 4, intermediate + + + + JEB4 + + @@ -330864,6 +402024,12 @@ cda, type iiib anemia, congenital dyserythropoietic, type iiib, autosomal recessive + + + + CDAN3B + + @@ -330887,6 +402053,12 @@ oculopharyngodistal myopathy 4 oculopharyngodistal myopathy 4 + + + + OPDM4 + + @@ -330899,6 +402071,12 @@ restrictive dermopathy 2, lethal restrictive dermopathy 2 + + + + RSDM2 + + @@ -330922,6 +402100,12 @@ osteogenesis imperfecta, type 22 osteogenesis imperfecta, type 22 + + + + OI22 + + @@ -330944,6 +402128,12 @@ neurodevelopmental disorder with central hypotonia and dysmorphic facies neurodevelopmental disorder with central hypotonia and dysmorphic facies + + + + NEDCHF + + @@ -330967,6 +402157,12 @@ spermatogenic failure 66 spermatogenic failure 66 + + + + SPGF66 + + @@ -330990,6 +402186,12 @@ immunodeficiency 97 with autoinflammation immunodeficiency 97 with autoinflammation + + + + IMD97 + + @@ -331013,6 +402215,12 @@ spermatogenic failure 67 spermatogenic failure 67 + + + + SPGF67 + + @@ -331024,6 +402232,12 @@ deafness, autosomal dominant 82 deafness, autosomal dominant 82 + + + + DFNA82 + + @@ -331047,6 +402261,12 @@ spermatogenic failure 68 spermatogenic failure 68 + + + + SPGF68 + + @@ -331058,6 +402278,12 @@ spinocerebellar ataxia 49 spinocerebellar ataxia 49 + + + + SCA49 + + @@ -331069,6 +402295,12 @@ deafness, autosomal dominant 83 deafness, autosomal dominant 83 + + + + DFNA83 + + @@ -331080,6 +402312,12 @@ deafness, autosomal dominant 84 deafness, autosomal dominant 84 + + + + DFNA84 + + @@ -331092,6 +402330,12 @@ This term has one or more labels that end with ', INCLUDED'. blood group, emm system + + + + EMM + + @@ -331103,6 +402347,12 @@ neutropenia, severe congenital, 9, autosomal dominant neutropenia, severe congenital, 9, autosomal dominant + + + + SCN9 + + @@ -331114,6 +402364,12 @@ developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy 101 + + + + DEE101 + + @@ -331127,6 +402383,12 @@ epidermolysis bullosa, junctional 5a, non-herlitz type epidermolysis bullosa, junctional 5a, intermediate + + + + JEB5A + + @@ -331149,6 +402411,12 @@ epidermolysis bullosa, junctional 6, with pyloric atresia epidermolysis bullosa, junctional 6, with pyloric atresia + + + + JEB6 + + @@ -331160,6 +402428,12 @@ agammaglobulinemia, autosomal recessive, due to tcf3 defect agammaglobulinemia 8b, autosomal recessive + + + + AGM8B + + @@ -331183,6 +402457,12 @@ aortic aneurysm, familial thoracic 12 aortic aneurysm, familial thoracic 12 + + + + AAT12 + + @@ -331206,6 +402486,12 @@ spermatogenic failure 69 spermatogenic failure 69 + + + + SPGF69 + + @@ -331229,6 +402515,12 @@ intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly + + + + MRT75 + + @@ -331252,6 +402544,12 @@ spermatogenic failure 70 spermatogenic failure 70 + + + + SPGF70 + + @@ -331276,6 +402574,12 @@ CCDC146 + + + + CCDC146 + + @@ -331287,6 +402591,12 @@ spermatogenic failure 71 spermatogenic failure 71 + + + + SPGF71 + + @@ -331297,6 +402607,12 @@ auditory neuropathy, autosomal dominant 3 auditory neuropathy, autosomal dominant 3 + + + + AUNA3 + + @@ -331319,6 +402635,12 @@ neurodevelopmental disorder with neuromuscular and skeletal abnormalities neurodevelopmental disorder with neuromuscular and skeletal abnormalities + + + + NEDNMS + + @@ -331330,6 +402652,12 @@ ovarian dysgenesis 10 ovarian dysgenesis 10 + + + + ODG10 + + @@ -331341,6 +402669,12 @@ MGCA7A 3-methylglutaconic aciduria, type 7a + + + + MGCA7A + + @@ -331374,6 +402708,12 @@ macrothrombocytopenia, isolated, 2, autosomal dominant macrothrombocytopenia, isolated, 2, autosomal dominant + + + + MACTHC2 + + @@ -331396,6 +402736,12 @@ chilton-okur-chung neurodevelopmental syndrome chilton-okur-chung neurodevelopmental syndrome + + + + CHOCNS + + @@ -331418,6 +402764,12 @@ intellectual developmental disorder with or without peripheral neuropathy intellectual developmental disorder with or without peripheral neuropathy + + + + IDDPN + + @@ -331429,6 +402781,12 @@ retinitis pigmentosa 93 retinitis pigmentosa 93 + + + + RP93 + + @@ -331452,6 +402810,12 @@ immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias + + + + IMD99 + + @@ -331474,6 +402838,12 @@ neurodegeneration, childhood-onset, with progressive microcephaly neurodegeneration, childhood-onset, with progressive microcephaly + + + + CONPM + + @@ -331497,6 +402867,12 @@ cholestasis, progressive familial intrahepatic, 9 cholestasis, progressive familial intrahepatic, 9 + + + + PFIC9 + + @@ -331508,6 +402884,12 @@ leukodystrophy, hypomyelinating, 24 leukodystrophy, hypomyelinating, 24 + + + + HLD24 + + @@ -331530,6 +402912,12 @@ neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities + + + + NEDHISB + + @@ -331553,6 +402941,12 @@ thyroid hormone metabolism, abnormal, 2 thyroid hormone metabolism, abnormal, 2 + + + + THMA2 + + @@ -331575,6 +402969,12 @@ autoinflammatory-pancytopenia syndrome autoinflammatory-pancytopenia syndrome + + + + AIPCS + + @@ -331597,6 +402997,12 @@ phosphoribosylaminoimidazole carboxylase deficiency phosphoribosylaminoimidazole carboxylase deficiency + + + + PAICSD + + @@ -331608,6 +403014,12 @@ spinocerebellar ataxia, autosomal recessive 32 spinocerebellar ataxia, autosomal recessive 32 + + + + SCAR32 + + @@ -331630,6 +403042,12 @@ leukodystrophy, childhood-onset, remitting leukodystrophy, childhood-onset, remitting + + + + CORLK + + @@ -331641,6 +403059,12 @@ spermatogenic failure 72 spermatogenic failure 72 + + + + SPGF72 + + @@ -331652,6 +403076,12 @@ cholestasis, progressive familial intrahepatic, 10 cholestasis, progressive familial intrahepatic, 10 + + + + PFIC10 + + @@ -331674,6 +403104,12 @@ neurocardiofaciodigital syndrome neurocardiofaciodigital syndrome + + + + NCFD + + @@ -331684,6 +403120,12 @@ corneal dystrophy, punctiform and polychromatic pre-descemet corneal dystrophy, punctiform and polychromatic pre-descemet + + + + PPPCD + + @@ -331708,6 +403150,12 @@ immunodeficiency 101 (varicella zoster virus-specific) immunodeficiency 101 (varicella zoster virus-specific) + + + + IMD101 + + @@ -331736,6 +403184,12 @@ parenti-mignot neurodevelopmental syndrome parenti-mignot neurodevelopmental syndrome + + + + PMNDS + + @@ -331747,6 +403201,12 @@ cholestasis, progressive familial intrahepatic, 11 cholestasis, progressive familial intrahepatic, 11 + + + + PFIC11 + + @@ -331769,6 +403229,12 @@ neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures + + + + NEDMHS + + @@ -331791,6 +403257,12 @@ dentici-novelli neurodevelopmental syndrome dentici-novelli neurodevelopmental syndrome + + + + DENNED + + @@ -331814,6 +403286,12 @@ spermatogenic failure 73 spermatogenic failure 73 + + + + SPGF73 + + @@ -331837,6 +403315,12 @@ meckel syndrome 14 meckel syndrome 14 + + + + MKS14 + + @@ -331859,6 +403343,12 @@ neurodevelopmental disorder with poor growth and skeletal anomalies neurodevelopmental disorder with poor growth and skeletal anomalies + + + + NEDGS + + @@ -331882,6 +403372,12 @@ developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy 102 + + + + DEE102 + + @@ -331892,6 +403388,12 @@ osteoporosis, childhood- or juvenile-onset, with developmental delay osteoporosis, childhood- or juvenile-onset, with developmental delay + + + + OPDD + + @@ -331915,6 +403417,12 @@ renal hypodysplasia/aplasia 4 renal hypodysplasia/aplasia 4 + + + + RHDA4 + + @@ -331938,6 +403446,12 @@ holoprosencephaly 14 holoprosencephaly 14 + + + + HPE14 + + @@ -331961,6 +403475,12 @@ cardiomyopathy, dilated, 2g cardiomyopathy, dilated, 2g + + + + CMD2G + + @@ -331983,6 +403503,12 @@ hepatorenocardiac degenerative fibrosis hepatorenocardiac degenerative fibrosis + + + + HRCDF + + @@ -331993,6 +403519,12 @@ peripheral motor neuropathy, childhood-onset, biotin-responsive peripheral motor neuropathy, childhood-onset, biotin-responsive + + + + COMNB + + @@ -332015,6 +403547,12 @@ neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder with language delay and seizures + + + + NEDLDS + + @@ -332026,6 +403564,12 @@ pontocerebellar hypoplasia, type 17 pontocerebellar hypoplasia, type 17 + + + + PCH17 + + @@ -332050,6 +403594,12 @@ mental retardation, autosomal dominant 66 intellectual developmental disorder, autosomal dominant 66 + + + + MRD66 + + @@ -332072,6 +403622,12 @@ intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism + + + + IDLDP + + @@ -332097,6 +403653,12 @@ MYMX + + + + MYMX + + @@ -332120,6 +403682,12 @@ developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy 103 + + + + DEE103 + + @@ -332131,6 +403699,12 @@ dystonia 35, childhood-onset dystonia 35, childhood-onset + + + + DYT35 + + @@ -332141,6 +403715,12 @@ neurodevelopmental disorder with dystonia and seizures neurodevelopmental disorder with dystonia and seizures + + + + NEDDS + + @@ -332167,6 +403747,12 @@ severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive immunodeficiency 105, severe combined + + + + IMD105 + + @@ -332179,6 +403765,12 @@ mental retardation, autosomal dominant 67 intellectual developmental disorder, autosomal dominant 67 + + + + MRD67 + + @@ -332191,6 +403783,12 @@ mental retardation, autosomal recessive 76 intellectual developmental disorder, autosomal recessive 76 + + + + MRT76 + + @@ -332203,6 +403801,12 @@ mental retardation, autosomal dominant 68 intellectual developmental disorder, autosomal dominant 68 + + + + MRD68 + + @@ -332227,6 +403831,12 @@ immunodeficiency 106, susceptibility to viral infections immunodeficiency 106, susceptibility to viral infections + + + + IMD106 + + @@ -332238,6 +403848,12 @@ spermatogenic failure 74 spermatogenic failure 74 + + + + SPGF74 + + @@ -332249,6 +403865,12 @@ premature ovarian failure 20 premature ovarian failure 20 + + + + POF20 + + @@ -332272,6 +403894,12 @@ carey-fineman-ziter syndrome 2 carey-fineman-ziter syndrome 2 + + + + CFZS2 + + @@ -332283,6 +403911,12 @@ waardenburg syndrome, type 2f waardenburg syndrome, type 2f + + + + WS2F + + @@ -332306,6 +403940,12 @@ spermatogenic failure 75 spermatogenic failure 75 + + + + SPGF75 + + @@ -332329,6 +403969,12 @@ tessadori-bicknell-van haaften neurodevelopmental syndrome 3 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 + + + + TEBIVANED3 + + @@ -332352,6 +403998,12 @@ tessadori-bicknell-van haaften neurodevelopmental syndrome 4 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 + + + + TEBIVANED4 + + @@ -332375,6 +404027,12 @@ TMEM63C + + + + TMEM63C + + @@ -332397,6 +404055,12 @@ dworschak-punetha neurodevelopmental syndrome dworschak-punetha neurodevelopmental syndrome + + + + DWOPNED + + @@ -332407,6 +404071,12 @@ attention deficit-hyperactivity disorder 8 attention deficit-hyperactivity disorder 8 + + + + ADHD8 + + @@ -332430,6 +404100,12 @@ aplasia cutis congenita with ectrodactyly skeletal syndrome acces syndrome + + + + ACCES + + @@ -332454,6 +404130,12 @@ RAB5IF + + + + RAB5IF + + @@ -332476,6 +404158,12 @@ developmental delay, impaired speech, and behavioral abnormalities, with or without seizures developmental delay, impaired speech, and behavioral abnormalities, with or without seizures + + + + DEDISB + + @@ -332499,6 +404187,12 @@ spastic paraplegia 87, autosomal recessive spastic paraplegia 87, autosomal recessive + + + + SPG87 + + @@ -332523,6 +404217,12 @@ myopathy, congenital, nonprogressive congenital myopathy 11 + + + + CMYO11 + + @@ -332534,6 +404234,12 @@ developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy 104 + + + + DEE104 + + @@ -332544,6 +404250,12 @@ neurodevelopmental disorder with epilepsy and brain atrophy neurodevelopmental disorder with epilepsy and brain atrophy + + + + NEDEBA + + @@ -332566,6 +404278,12 @@ neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy + + + + NEDMLHB + + @@ -332577,6 +404295,12 @@ tumor predisposition syndrome 2 tumor predisposition syndrome 2 + + + + TPDS2 + + @@ -332600,6 +404324,12 @@ macular dystrophy, retinal, 4 macular dystrophy, retinal, 4 + + + + MCDR4 + + @@ -332623,6 +404353,12 @@ C18ORF32 + + + + C18ORF32 + + @@ -332640,6 +404376,12 @@ braddock-carey syndrome 1 braddock-carey syndrome 1 + + + + BRDCS1 + + @@ -332663,6 +404405,12 @@ braddock-carey syndrome 2 braddock-carey syndrome 2 + + + + BRDCS2 + + @@ -332686,6 +404434,12 @@ developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy 105 with hypopituitarism + + + + DEE105 + + @@ -332709,6 +404463,12 @@ neurodevelopmental disorder with hypotonia and contractures glycosylphosphatidylinositol biosynthesis defect 25 + + + + GPIBD25 + + @@ -332720,6 +404480,12 @@ immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection + + + + IMD107 + + @@ -332731,6 +404497,12 @@ intellectual developmental disorder, autosomal recessive 77 intellectual developmental disorder, autosomal recessive 77 + + + + MRT77 + + @@ -332753,6 +404525,12 @@ neurodevelopmental disorder with speech delay and variable ocular anomalies neurodevelopmental disorder with speech delay and variable ocular anomalies + + + + NEDSOA + + @@ -332776,6 +404554,12 @@ liver disease, severe congenital liver disease, severe congenital + + + + SCOLIV + + @@ -332786,6 +404570,12 @@ neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies + + + + NEDITPO + + @@ -332808,6 +404598,12 @@ neurodevelopmental disorder with spasticity, seizures, and brain abnormalities neurodevelopmental disorder with spasticity, seizures, and brain abnormalities + + + + NEDSSBA + + @@ -332830,6 +404626,12 @@ primordial dwarfism-immunodeficiency-lipodystrophy syndrome primordial dwarfism-immunodeficiency-lipodystrophy syndrome + + + + PDIL + + @@ -332852,6 +404654,12 @@ intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects + + + + IDDMDS + + @@ -332862,6 +404670,12 @@ keratoderma-ichthyosis-deafness syndrome, autosomal recessive keratoderma-ichthyosis-deafness syndrome, autosomal recessive + + + + KDIDAR + + @@ -332874,6 +404688,12 @@ cholestasis, progressive familial intrahepatic, 12 cholestasis, progressive familial intrahepatic, 12 + + + + PFIC12 + + @@ -332887,6 +404707,12 @@ spinal muscular atrophy, distal, autosomal recessive, 6 neuronopathy, distal hereditary motor, autosomal recessive 6 + + + + HMNR6 + + @@ -332909,6 +404735,12 @@ developmental delay, hypotonia, and impaired language developmental delay, hypotonia, and impaired language + + + + DEDHIL + + @@ -332933,6 +404765,12 @@ lymphatic malformation 12 lymphatic malformation 12 + + + + LMPHM12 + + @@ -332956,6 +404794,12 @@ advance sleep phase syndrome, familial, 4 advance sleep phase syndrome, familial, 4 + + + + FASPS4 + + @@ -332967,6 +404811,12 @@ arthrogryposis, distal, type 11 arthrogryposis, distal, type 11 + + + + DA11 + + @@ -332989,6 +404839,12 @@ intellectual developmental disorder with autism and dysmorphic facies intellectual developmental disorder with autism and dysmorphic facies + + + + IDDADF + + @@ -333000,6 +404856,12 @@ stickler syndrome, type 6 stickler syndrome, type 6 + + + + STL6 + + @@ -333022,6 +404884,12 @@ neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures + + + + NEDMIMS + + @@ -333044,6 +404912,12 @@ neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities + + + + NEDSMBA + + @@ -333067,6 +404941,12 @@ diaphragmatic hernia 4, with cardiovascular defects diaphragmatic hernia 4, with cardiovascular defects + + + + DIH4 + + @@ -333089,6 +404969,12 @@ neurodevelopmental disorder with microcephaly, short stature, and speech delay neurodevelopmental disorder with microcephaly, short stature, and speech delay + + + + NEDMISS + + @@ -333100,6 +404986,12 @@ developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy 106 + + + + DEE106 + + @@ -333110,6 +405002,12 @@ neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures + + + + NEDHLSS + + @@ -333133,6 +405031,12 @@ ciliary dyskinesia, primary, 48, without situs inversus ciliary dyskinesia, primary, 48, without situs inversus + + + + CILD48 + + @@ -333156,6 +405060,12 @@ developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy 107 + + + + DEE107 + + @@ -333178,6 +405088,12 @@ neurodevelopmental disorder with microcephaly, hypotonia, and absent language neurodevelopmental disorder with microcephaly, hypotonia, and absent language + + + + NEDMHAL + + @@ -333201,6 +405117,12 @@ dyskeratosis congenita, digenic dyskeratosis congenita, digenic + + + + DKCD + + @@ -333223,6 +405145,12 @@ bone marrow failure and diabetes mellitus syndrome bone marrow failure and diabetes mellitus syndrome + + + + BMFDMS + + @@ -333233,6 +405161,12 @@ intestinal dysmotility syndrome intestinal dysmotility syndrome + + + + IDMTS + + @@ -333256,6 +405190,12 @@ microcephaly 29, primary, autosomal recessive microcephaly 29, primary, autosomal recessive + + + + MCPH29 + + @@ -333267,6 +405207,12 @@ nephrotic syndrome, type 26 nephrotic syndrome, type 26 + + + + NPHS26 + + @@ -333290,6 +405236,12 @@ polycystic kidney disease 7 polycystic kidney disease 7 + + + + PKD7 + + @@ -333332,6 +405284,12 @@ diphthamide deficiency syndrome 2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 + + + + DEDSSH2 + + @@ -333354,6 +405312,12 @@ developmental delay, behavioral abnormalities, and neuropsychiatric disorders developmental delay, behavioral abnormalities, and neuropsychiatric disorders + + + + DEDBANP + + @@ -333376,6 +405340,12 @@ neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment + + + + NEDMVIC + + @@ -333399,6 +405369,12 @@ cardiac valvular dysplasia 2 cardiac valvular dysplasia 2 + + + + CVDP2 + + @@ -333411,6 +405387,12 @@ charcot-marie-tooth neuropathy, type 2ii charcot-marie-tooth disease, axonal, type 2ii + + + + CMT2II + + @@ -333433,6 +405415,12 @@ neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties + + + + NEDSFF + + @@ -333456,6 +405444,12 @@ neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss birk-aharoni syndrome + + + + BKAH + + @@ -333479,6 +405473,12 @@ diamond-blackfan anemia 21 diamond-blackfan anemia 21 + + + + DBA21 + + @@ -333501,6 +405501,12 @@ neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities + + + + NEDDFSB + + @@ -333525,6 +405531,12 @@ LTV1 + + + + LTV1 + + @@ -333547,6 +405559,12 @@ neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly + + + + NEDFLPH + + @@ -333558,6 +405576,12 @@ bent bone dysplasia syndrome 2 bent bone dysplasia syndrome 2 + + + + BBDS2 + + @@ -333571,6 +405595,12 @@ neuropathy, distal hereditary motor, type 10 neuronopathy, distal hereditary motor, autosomal dominant 10 + + + + HMND10 + + @@ -333593,6 +405623,12 @@ neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects + + + + NEDCDS + + @@ -333616,6 +405652,12 @@ spermatogenic failure 76 spermatogenic failure 76 + + + + SPGF76 + + @@ -333638,6 +405680,12 @@ hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 + + + + HUMOP2 + + @@ -333660,6 +405708,12 @@ intellectual developmental disorder with ocular anomalies and distinctive facial features intellectual developmental disorder with ocular anomalies and distinctive facial features + + + + IDDOF + + @@ -333682,6 +405736,12 @@ neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction + + + + CONDMIM + + @@ -333704,6 +405764,12 @@ neurodevelopmental disorder with eye movement abnormalities and ataxia neurodevelopmental disorder with eye movement abnormalities and ataxia + + + + NEDEMA + + @@ -333726,6 +405792,12 @@ developmental delay with variable intellectual disability and dysmorphic facies developmental delay with variable intellectual disability and dysmorphic facies + + + + DIDDF + + @@ -333749,6 +405821,12 @@ cleidocranial dysplasia 2 cleidocranial dysplasia 2 + + + + CLCD2 + + @@ -333760,6 +405838,12 @@ retinitis pigmentosa 95 retinitis pigmentosa 95 + + + + RP95 + + @@ -333783,6 +405867,12 @@ spermatogenic failure 77 spermatogenic failure 77 + + + + SPGF77 + + @@ -333807,6 +405897,12 @@ amelogenesis imperfecta, type 1k amelogenesis imperfecta, type 1k + + + + AI1K + + @@ -333830,6 +405926,12 @@ spastic paraplegia 88, autosomal dominant spastic paraplegia 88, autosomal dominant + + + + SPG88 + + @@ -333855,6 +405957,12 @@ orofaciodigital syndrome 19 orofaciodigital syndrome 19 + + + + OFD19 + + @@ -333878,6 +405986,12 @@ TMEM151A + + + + TMEM151A + + @@ -333890,6 +406004,12 @@ charcot-marie-tooth neuropathy, demyelinating, type 1j charcot-marie-tooth disease, demyelinating, type 1j + + + + CMT1J + + @@ -333912,6 +406032,12 @@ neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities + + + + NEDGFC + + @@ -333934,6 +406060,12 @@ neurodevelopmental disorder with speech impairment and with or without seizures neurodevelopmental disorder with speech impairment and with or without seizures + + + + NEDSIS + + @@ -333957,6 +406089,12 @@ developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy 108 + + + + DEE108 + + @@ -333979,6 +406117,12 @@ fatty liver disease, protection from fatty liver disease, protection from + + + + FLDP + + @@ -334001,6 +406145,12 @@ iron overload, susceptibility to iron overload, susceptibility to + + + + IO + + @@ -334012,6 +406162,12 @@ pseudohypoaldosteronism, type ib2, autosomal recessive pseudohypoaldosteronism, type ib2, autosomal recessive + + + + PHA1B2 + + @@ -334023,6 +406179,12 @@ pseudohypoaldosteronism, type ib3, autosomal recessive pseudohypoaldosteronism, type ib3, autosomal recessive + + + + PHA1B3 + + @@ -334046,6 +406208,12 @@ dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita, autosomal recessive 8 + + + + DKCB8 + + @@ -334069,6 +406237,12 @@ mitochondrial complex 1 deficiency, nuclear type 39 mitochondrial complex 1 deficiency, nuclear type 39 + + + + MC1DN39 + + @@ -334092,6 +406266,12 @@ mitochondrial complex 3 deficiency, nuclear type 11 mitochondrial complex 3 deficiency, nuclear type 11 + + + + MC3DN11 + + @@ -334114,6 +406294,12 @@ myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis + + + + MMCKR + + @@ -334137,6 +406323,12 @@ combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 56 + + + + COXPD56 + + @@ -334159,6 +406351,12 @@ developmental delay, language impairment, and ocular abnormalities developmental delay, language impairment, and ocular abnormalities + + + + DEVLO + + @@ -334183,6 +406381,12 @@ CENATAC + + + + CENATAC + + @@ -334206,6 +406410,12 @@ developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy 109 + + + + DEE109 + + @@ -334217,6 +406427,12 @@ ichthyosis, annular epidermolytic, 2 ichthyosis, annular epidermolytic, 2 + + + + AEI2 + + @@ -334240,6 +406456,12 @@ developmental and epileptic encephalopathy 110 developmental and epileptic encephalopathy 110 + + + + DEE110 + + @@ -334251,6 +406473,12 @@ epidermolytic hyperkeratosis 2a, autosomal dominant epidermolytic hyperkeratosis 2a, autosomal dominant + + + + EHK2A + + @@ -334267,6 +406495,12 @@ wolman disease wolman disease + + + + WOLD + + @@ -334290,6 +406524,12 @@ hypomagnesemia 7, renal, with or without dilated cardiomyopathy hypomagnesemia 7, renal, with or without dilated cardiomyopathy + + + + HOMG7 + + @@ -334313,6 +406553,12 @@ mosaic variegated aneuploidy syndrome 4 mosaic variegated aneuploidy syndrome 4 + + + + MVA4 + + @@ -334337,6 +406583,12 @@ oocyte/zygote/embryo maturation arrest 13 oocyte/zygote/embryo maturation arrest 13 + + + + OZEMA13 + + @@ -334347,6 +406599,12 @@ rabin-pappas syndrome rabin-pappas syndrome + + + + RAPAS + + @@ -334370,6 +406628,12 @@ cortical dysplasia, complex, with other brain malformations 11 cortical dysplasia, complex, with other brain malformations 11 + + + + CDCBM11 + + @@ -334381,6 +406645,12 @@ intellectual developmental disorder, autosomal dominant 70 intellectual developmental disorder, autosomal dominant 70 + + + + MRD70 + + @@ -334404,6 +406674,12 @@ spinocerebellar ataxia 50 spinocerebellar ataxia 50 + + + + SCA50 + + @@ -334427,6 +406703,12 @@ IQCN + + + + IQCN + + @@ -334451,6 +406733,12 @@ myopathy, congenital, with neonatal respiratory insufficiency congenital myopathy 15 + + + + CMYO15 + + @@ -334461,6 +406749,12 @@ muscular dystrophy, congenital, with or without seizures muscular dystrophy, congenital, with or without seizures + + + + MYOS + + @@ -334484,6 +406778,12 @@ combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency 57 + + + + COXPD57 + + @@ -334507,6 +406807,12 @@ spermatogenic failure 78 spermatogenic failure 78 + + + + SPGF78 + + @@ -334518,6 +406824,12 @@ tooth agenesis, selective, 10 tooth agenesis, selective, 10 + + + + STHAG10 + + @@ -334529,6 +406841,12 @@ spinocerebellar ataxia 27b, late-onset spinocerebellar ataxia 27b, late-onset + + + + SCA27B + + @@ -334552,6 +406870,12 @@ hypotrichosis 15 hypotrichosis 15 + + + + HYPT15 + + @@ -334563,6 +406887,12 @@ microcephaly 30, primary, autosomal recessive microcephaly 30, primary, autosomal recessive + + + + MCPH30 + + @@ -334589,6 +406919,12 @@ poor growth, microcephaly, developmental delay, and anemia atelis syndrome 1 + + + + ATELS1 + + @@ -334615,6 +406951,12 @@ poor growth, microcephaly, dysmorphic facies, and cardiac defects atelis syndrome 2 + + + + ATELS2 + + @@ -334625,6 +406967,12 @@ branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome + + + + BCAHH + + @@ -334650,6 +406998,12 @@ CFAP74 + + + + CFAP74 + + @@ -334661,6 +407015,12 @@ mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition + + + + MVA7 + + @@ -334683,6 +407043,12 @@ neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities + + + + NEDHFS + + @@ -334695,6 +407061,12 @@ ladd syndrome 2 lacrimoauriculodentodigital syndrome 2 + + + + LADD2 + + @@ -334707,6 +407079,12 @@ ladd syndrome 3 lacrimoauriculodentodigital syndrome 3 + + + + LADD3 + + @@ -334729,6 +407107,12 @@ neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies + + + + NEDGEF + + @@ -334751,6 +407135,12 @@ obesity and hypopigmentation obesity and hypopigmentation + + + + OBHP + + @@ -334774,6 +407164,12 @@ spermatogenic failure 79 spermatogenic failure 79 + + + + SPGF79 + + @@ -334797,6 +407193,12 @@ ciliary dyskinesia, primary, 49, without situs inversus ciliary dyskinesia, primary, 49, without situs inversus + + + + CILD49 + + @@ -334820,6 +407222,12 @@ thyroid hormone metabolism, abnormal, 3 thyroid hormone metabolism, abnormal, 3 + + + + THMA3 + + @@ -334842,6 +407250,12 @@ inflammatory poikiloderma with hair abnormalities and acral keratoses inflammatory poikiloderma with hair abnormalities and acral keratoses + + + + IPHAK + + @@ -334866,6 +407280,12 @@ congenital disorder of glycosylation, type iiy congenital disorder of glycosylation, type iiy + + + + CDG2Y + + @@ -334890,6 +407310,12 @@ congenital disorder of glycosylation, type iiz congenital disorder of glycosylation, type iiz + + + + CDG2Z + + @@ -334913,6 +407339,12 @@ cardiomyopathy, dilated, 2h cardiomyopathy, dilated, 2h + + + + CMD2H + + @@ -334942,6 +407374,12 @@ u12 snrna RNU12 + + + + RNU12 + + @@ -334953,6 +407391,12 @@ er blood group system blood group, er + + + + ER + + @@ -334964,6 +407408,12 @@ spinocerebellar ataxia, autosomal recessive 33 spinocerebellar ataxia, autosomal recessive 33 + + + + SCAR33 + + @@ -334989,6 +407439,12 @@ HECTD4 + + + + HECTD4 + + @@ -335011,6 +407467,12 @@ neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia + + + + NEDFIH + + @@ -335034,6 +407496,12 @@ hyperinsulinemic hypoglycemia, familial, 8 hyperinsulinemic hypoglycemia, familial, 8 + + + + HHF8 + + @@ -335058,6 +407526,12 @@ MINAR2 + + + + MINAR2 + + @@ -335069,6 +407543,12 @@ spastic paraplegia 79a, autosomal dominant, with ataxia spastic paraplegia 79a, autosomal dominant, with ataxia + + + + SPG79A + + @@ -335080,6 +407560,12 @@ spermatogenic failure 80 spermatogenic failure 80 + + + + SPGF80 + + @@ -335090,6 +407576,12 @@ neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures + + + + NEDFSS + + @@ -335113,6 +407605,12 @@ deafness, autosomal dominant 85 deafness, autosomal dominant 85 + + + + DFNA85 + + @@ -335124,6 +407622,12 @@ retinitis pigmentosa 96 retinitis pigmentosa 96 + + + + RP96 + + @@ -335146,6 +407650,12 @@ short qt syndrome 7 short qt syndrome 7 + + + + SQT7 + + @@ -335169,6 +407679,12 @@ nfat1 deficiency joint contractures, osteochondromas, and b-cell lymphoma + + + + JCOSL + + @@ -335191,6 +407707,12 @@ respiratory infections, recurrent, and failure to thrive with or without diarrhea respiratory infections, recurrent, and failure to thrive with or without diarrhea + + + + RIFTD + + @@ -335213,6 +407735,12 @@ rhabdomyolysis, susceptibility to, 1 rhabdomyolysis, susceptibility to, 1 + + + + RHABDO1 + + @@ -335224,6 +407752,12 @@ cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies + + + + CMH29 + + @@ -335235,6 +407769,12 @@ intellectual developmental disorder, autosomal recessive 78 intellectual developmental disorder, autosomal recessive 78 + + + + MRT78 + + @@ -335258,6 +407798,12 @@ deafness, autosomal recessive 120 deafness, autosomal recessive 120 + + + + DFNB120 + + @@ -335280,6 +407826,12 @@ developmental delay with hypotonia, myopathy, and brain abnormalities developmental delay with hypotonia, myopathy, and brain abnormalities + + + + DEDHMB + + @@ -335303,6 +407855,12 @@ hydrocephalus, congenital, 5, susceptibility to hydrocephalus, congenital, 5, susceptibility to + + + + HYC5 + + @@ -335325,6 +407883,12 @@ neurodevelopmental disorder with poor growth and behavioral abnormalities neurodevelopmental disorder with poor growth and behavioral abnormalities + + + + NEDGBA + + @@ -335348,6 +407912,12 @@ leukodystrophy, hypomyelinating, 25 leukodystrophy, hypomyelinating, 25 + + + + HLD25 + + @@ -335360,6 +407930,12 @@ lymphatic malformation 13 lymphatic malformation 13 + + + + LMPHM13 + + @@ -335385,6 +407961,12 @@ episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia 3 + + + + EKD3 + + @@ -335399,6 +407981,12 @@ myopathy, congenital, due to dihydropyridine receptor defect congenital myopathy 18 + + + + CMYO18 + + @@ -335422,6 +408010,12 @@ cardiomyopathy, dilated, 1oo cardiomyopathy, dilated, 1oo + + + + CMD1OO + + @@ -335434,6 +408028,12 @@ myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant congenital myopathy 10b, mild variant + + + + CMYO10B + + @@ -335456,6 +408056,12 @@ neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum + + + + NEDSSCC + + @@ -335467,6 +408073,12 @@ cataract 50 with or without glaucoma cataract 50 with or without glaucoma + + + + CTRCT50 + + @@ -335478,6 +408090,12 @@ congenital myopathy 2b, severe infantile, autosomal recessive congenital myopathy 2b, severe infantile, autosomal recessive + + + + CMYO2B + + @@ -335502,6 +408120,12 @@ leukodystrophy, hypomyelinating, 26, with chondrodysplasia leukodystrophy, hypomyelinating, 26, with chondrodysplasia + + + + HLD26 + + @@ -335524,6 +408148,12 @@ neurodevelopmental disorder with absent speech and movement and behavioral abnormalities neurodevelopmental disorder with absent speech and movement and behavioral abnormalities + + + + NEDSMB + + @@ -335547,6 +408177,12 @@ mitochondrial complex 4 deficiency, nuclear type 23 mitochondrial complex 4 deficiency, nuclear type 23 + + + + MC4DN23 + + @@ -335571,6 +408207,12 @@ oocyte/zygote/embryo maturation arrest 14 oocyte/zygote/embryo maturation arrest 14 + + + + OZEMA14 + + @@ -335594,6 +408236,12 @@ spermatogenic failure 81 spermatogenic failure 81 + + + + SPGF81 + + @@ -335605,6 +408253,12 @@ congenital myopathy 2c, severe infantile, autosomal dominant congenital myopathy 2c, severe infantile, autosomal dominant + + + + CMYO2C + + @@ -335630,6 +408284,12 @@ DAW1 + + + + DAW1 + + @@ -335653,6 +408313,12 @@ deafness, autosomal dominant 86 deafness, autosomal dominant 86 + + + + DFNA86 + + @@ -335676,6 +408342,12 @@ deafness, autosomal dominant 87 deafness, autosomal dominant 87 + + + + DFNA87 + + @@ -335699,6 +408371,12 @@ immunodeficiency 109 with lymphoproliferation immunodeficiency 109 with lymphoproliferation + + + + IMD109 + + @@ -335722,6 +408400,12 @@ deafness, autosomal dominant 88 deafness, autosomal dominant 88 + + + + DFNA88 + + @@ -335745,6 +408429,12 @@ deafness, autosomal dominant 89 deafness, autosomal dominant 89 + + + + DFNA89 + + @@ -335756,6 +408446,12 @@ amyotrophic lateral sclerosis 27, juvenile amyotrophic lateral sclerosis 27, juvenile + + + + ALS27 + + @@ -335779,6 +408475,12 @@ myopathy, sarcoplasmic body myopathy, sarcoplasmic body + + + + MYOSB + + @@ -335801,6 +408503,12 @@ neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures + + + + NEDLBAS + + @@ -335823,6 +408531,12 @@ congenital heart defects, multiple types, 9 congenital heart defects, multiple types, 9 + + + + CHTD9 + + @@ -335845,6 +408559,12 @@ autoinflammation with pulmonary and cutaneous vasculitis autoinflammation with pulmonary and cutaneous vasculitis + + + + AIPCV + + @@ -335870,6 +408590,12 @@ This term has one or more labels that end with ', INCLUDED'. mitochondrial trifunctional protein deficiency 2 + + + + MTPD2 + + @@ -335881,6 +408607,12 @@ pituitary hormone deficiency, combined or isolated, 8 pituitary hormone deficiency, combined or isolated, 8 + + + + CPHD8 + + @@ -335891,6 +408623,12 @@ neurooculorenal syndrome neurooculorenal syndrome + + + + NORS + + @@ -335913,6 +408651,12 @@ neurodegeneration and seizures due to copper transport defect neurodegeneration and seizures due to copper transport defect + + + + NSCT + + @@ -335936,6 +408680,12 @@ congenital myopathy 20 congenital myopathy 20 + + + + CMYO20 + + @@ -335947,6 +408697,12 @@ premature ovarian failure 21 premature ovarian failure 21 + + + + POF21 + + @@ -335970,6 +408726,12 @@ leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter 2 + + + + VWM2 + + @@ -335993,6 +408755,12 @@ leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter 3 + + + + VWM3 + + @@ -336016,6 +408784,12 @@ leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter 4 + + + + VWM4 + + @@ -336040,6 +408814,12 @@ leukoencephalopathy with vanishing white matter 5 leukoencephalopathy with vanishing white matter 5 + + + + VWM5 + + @@ -336063,6 +408843,12 @@ cortical dysplasia, complex, with other brain malformations 12 cortical dysplasia, complex, with other brain malformations 12 + + + + CDCBM12 + + @@ -336073,6 +408859,12 @@ neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities + + + + NEDMSBA + + @@ -336096,6 +408888,12 @@ oocyte/zygote/embryo maturation arrest 17 oocyte/zygote/embryo maturation arrest 17 + + + + OZEMA17 + + @@ -336107,6 +408905,12 @@ hematuria, benign familial, 2 hematuria, benign familial, 2 + + + + BFH2 + + @@ -336130,6 +408934,12 @@ c1q deficiency 2 c1q deficiency 2 + + + + C1QD2 + + @@ -336153,6 +408963,12 @@ c1q deficiency 3 c1q deficiency 3 + + + + C1QD3 + + @@ -336164,6 +408980,12 @@ spastic paraplegia 70, autosomal recessive spastic paraplegia 70, autosomal recessive + + + + SPG70 + + @@ -336187,6 +409009,12 @@ congenital myopathy 21 with early respiratory failure congenital myopathy 21 with early respiratory failure + + + + CMYO21 + + @@ -336209,6 +409037,12 @@ neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities + + + + NDDRSB + + @@ -336232,6 +409066,12 @@ intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities + + + + MRD71 + + @@ -336256,6 +409096,12 @@ immunodeficiency 111 hatipoglu immunodeficiency syndrome + + + + HATIS + + @@ -336279,6 +409125,12 @@ oocyte/zygote/embryo maturation arrest 18 oocyte/zygote/embryo maturation arrest 18 + + + + OZEMA18 + + @@ -336302,6 +409154,12 @@ oocyte/zygote/embryo maturation arrest 19 oocyte/zygote/embryo maturation arrest 19 + + + + OZEMA19 + + @@ -336313,6 +409171,12 @@ cone-rod dystrophy 24 cone-rod dystrophy 24 + + + + CORD24 + + @@ -336325,6 +409189,12 @@ nevoid basal cell carcinoma syndrome 2 basal cell nevus syndrome 2 + + + + BCNS2 + + @@ -336349,6 +409219,12 @@ prolonged electroretinal response suppression 2 prolonged electroretinal response suppression 2 + + + + PERRS2 + + @@ -336360,6 +409236,12 @@ congenital myopathy 22a, classic congenital myopathy 22a, classic + + + + CMYO22A + + @@ -336371,6 +409253,12 @@ developmental and epileptic encephalopathy 31b developmental and epileptic encephalopathy 31b + + + + DEE31B + + @@ -336394,6 +409282,12 @@ spermatogenic failure 82 spermatogenic failure 82 + + + + SPGF82 + + @@ -336417,6 +409311,12 @@ spermatogenic failure 83 spermatogenic failure 83 + + + + SPGF83 + + @@ -336440,6 +409340,12 @@ ciliary dyskinesia, primary, 50 ciliary dyskinesia, primary, 50 + + + + CILD50 + + @@ -336463,6 +409369,12 @@ diarrhea 13 diarrhea 13 + + + + DIAR13 + + @@ -336474,6 +409386,12 @@ mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4a mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4a + + + + MC5DN4A + + @@ -336497,6 +409415,12 @@ mitochondrial complex 5 (atp synthase) deficiency, nuclear type 7 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 7 + + + + MC5DN7 + + @@ -336507,6 +409431,12 @@ combined low ldl and fibrinogen combined low ldl and fibrinogen + + + + CLDLFIB + + @@ -336530,6 +409460,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 + + + + PFBMFT7 + + @@ -336554,6 +409490,12 @@ osteopetrosis, ikegawa type osteopetrosis, autosomal recessive 9 + + + + OPTB9 + + @@ -336565,6 +409507,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 + + + + PFBMFT8 + + @@ -336576,6 +409524,12 @@ cerebroretinal microangiopathy with calcifications and cysts 3 cerebroretinal microangiopathy with calcifications and cysts 3 + + + + CRMCC3 + + @@ -336587,6 +409541,12 @@ congenital myopathy 22b, severe fetal congenital myopathy 22b, severe fetal + + + + CMYO22B + + @@ -336609,6 +409569,12 @@ recon progeroid syndrome recon progeroid syndrome + + + + RECON + + @@ -336631,6 +409597,12 @@ neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity + + + + NEDIHSS + + @@ -336641,6 +409613,12 @@ hypersulfaturia hypersulfaturia + + + + HYSULF + + @@ -336664,6 +409642,12 @@ nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis + + + + CAON2 + + @@ -336676,6 +409660,12 @@ myopathy, limb-girdle, adult-onset muscular dystrophy, limb-girdle, autosomal recessive 28 + + + + LGMDR28 + + @@ -336699,6 +409689,12 @@ lavli syndrome autoinflammatory disease, systemic, with vasculitis + + + + SAIDV + + @@ -336722,6 +409718,12 @@ ARMC12 + + + + ARMC12 + + @@ -336739,6 +409741,12 @@ charcot-marie-tooth neuropathy, dominant intermediate a charcot-marie-tooth disease, dominant intermediate a + + + + CMTDIA + + @@ -336762,6 +409770,12 @@ spastic paraplegia 89, autosomal recessive spastic paraplegia 89, autosomal recessive + + + + SPG89 + + @@ -336785,6 +409799,12 @@ CFAP61 + + + + CFAP61 + + @@ -336808,6 +409828,12 @@ oocyte/zygote/embryo maturation arrest 20 oocyte/zygote/embryo maturation arrest 20 + + + + OZEMA20 + + @@ -336818,6 +409844,12 @@ auditory neuropathy, autosomal dominant 2 auditory neuropathy, autosomal dominant 2 + + + + AUNA2 + + @@ -336829,6 +409861,12 @@ nemaline myopathy 5b, autosomal recessive, childhood-onset nemaline myopathy 5b, autosomal recessive, childhood-onset + + + + NEM5B + + @@ -336840,6 +409878,12 @@ nemaline myopathy 5c, autosomal dominant nemaline myopathy 5c, autosomal dominant + + + + NEM5C + + @@ -336863,6 +409907,12 @@ intellectual developmental disorder, autosomal recessive 79 intellectual developmental disorder, autosomal recessive 79 + + + + MRT79 + + @@ -336886,6 +409936,12 @@ glycine encephalopathy 2 glycine encephalopathy 2 + + + + GCE2 + + @@ -336897,6 +409953,12 @@ pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 + + + + PFBMFT9 + + @@ -336909,6 +409971,12 @@ neuropathy, distal hereditary motor, autosomal recessive 9 neuronopathy, distal hereditary motor, autosomal recessive 9 + + + + HMNR9 + + @@ -336932,6 +410000,12 @@ spermatogenic failure 84 spermatogenic failure 84 + + + + SPGF84 + + @@ -336944,6 +410018,12 @@ This term has one or more labels that end with ', INCLUDED'. low density lipoprotein cholesterol level quantitative trait locus 3 + + + + LDLCQ3 + + @@ -336957,6 +410037,12 @@ palmoplantar keratoderma, epidermolytic, 2 palmoplantar keratoderma, epidermolytic, 2 + + + + EPPK2 + + @@ -336979,6 +410065,12 @@ woolly hair-skin fragility syndrome woolly hair-skin fragility syndrome + + + + WHSF + + @@ -336990,6 +410082,12 @@ spastic paraplegia 90a, autosomal dominant spastic paraplegia 90a, autosomal dominant + + + + SPG90A + + @@ -337001,6 +410099,12 @@ spastic paraplegia 90b, autosomal recessive spastic paraplegia 90b, autosomal recessive + + + + SPG90B + + @@ -337023,6 +410127,12 @@ retinitis pigmentosa 97 retinitis pigmentosa 97 + + + + RP97 + + @@ -337046,6 +410156,12 @@ multiple mitochondrial dysfunctions syndrome 7 multiple mitochondrial dysfunctions syndrome 7 + + + + MMDS7 + + @@ -337057,6 +410173,12 @@ cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 + + + + CHINE2 + + @@ -337080,6 +410202,12 @@ dystonia 37, early-onset, with striatal lesions dystonia 37, early-onset, with striatal lesions + + + + DYT37 + + @@ -337102,6 +410230,12 @@ neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities + + + + NEDMLOB + + @@ -337126,6 +410260,12 @@ cblb deficiency autoimmune disease, multisystem, infantile-onset, 3 + + + + ADMIO3 + + @@ -337149,6 +410289,12 @@ ciliary dyskinesia, primary, 51 ciliary dyskinesia, primary, 51 + + + + CILD51 + + @@ -337172,6 +410318,12 @@ intellectual developmental disorder, autosomal dominant 72 intellectual developmental disorder, autosomal dominant 72 + + + + MRD72 + + @@ -337183,6 +410335,12 @@ breast-ovarian cancer, familial, susceptibility to, 5 breast-ovarian cancer, familial, susceptibility to, 5 + + + + BROVCA5 + + @@ -337194,6 +410352,12 @@ scleroderma, juvenile localized disabling pansclerotic morphea of childhood + + + + DPMC + + @@ -337217,6 +410381,12 @@ craniofacial microsomia 2 craniofacial microsomia 2 + + + + CFM2 + + @@ -337239,6 +410409,12 @@ neurodevelopmental disorder with microcephaly and movement abnormalities neurodevelopmental disorder with microcephaly and movement abnormalities + + + + NEDMIM + + @@ -337262,6 +410438,12 @@ megalencephalic leukoencephalopathy with subcortical cysts 3 megalencephalic leukoencephalopathy with subcortical cysts 3 + + + + MLC3 + + @@ -337285,6 +410467,12 @@ megalencephalic leukoencephalopathy with subcortical cysts 4, remitting megalencephalic leukoencephalopathy with subcortical cysts 4, remitting + + + + MLC4 + + @@ -337308,6 +410496,12 @@ immunodeficiency 112 immunodeficiency 112 + + + + IMD112 + + @@ -337333,6 +410527,12 @@ taf4-related neurodevelopmental disorder intellectual developmental disorder, autosomal dominant 73 + + + + MRD73 + + @@ -337356,6 +410556,12 @@ combined oxidative phosphorylation deficiency 58 combined oxidative phosphorylation deficiency 58 + + + + COXPD58 + + @@ -337367,6 +410573,12 @@ amyotrophic lateral sclerosis 28 amyotrophic lateral sclerosis 28 + + + + ALS28 + + @@ -337378,6 +410590,12 @@ dystonia 22, juvenile-onset dystonia 22, juvenile-onset + + + + DYT22JO + + @@ -337402,6 +410620,12 @@ congenital disorder of glycosylation, type iiaa congenital disorder of glycosylation, type iiaa + + + + CDG2AA + + @@ -337424,6 +410648,12 @@ neurodevelopmental disorder with hypotonia and speech delay, with or without seizures neurodevelopmental disorder with hypotonia and speech delay, with or without seizures + + + + NEDHSS + + @@ -337435,6 +410665,12 @@ dystonia 22, adult-onset dystonia 22, adult-onset + + + + DYT22AO + + @@ -337458,6 +410694,12 @@ auriculocondylar syndrome 4 auriculocondylar syndrome 4 + + + + ARCND4 + + @@ -337469,6 +410711,12 @@ auriculocondylar syndrome 2b auriculocondylar syndrome 2b + + + + ARCND2B + + @@ -337492,6 +410740,12 @@ birt-hogg-dube syndrome 2 birt-hogg-dube syndrome 2 + + + + BHD2 + + @@ -337503,6 +410757,12 @@ oculopharyngeal muscular dystrophy 2 oculopharyngeal muscular dystrophy 2 + + + + OPMD2 + + @@ -337527,6 +410787,12 @@ encephalopathy, acute necrotizing, susceptibility to encephalitis, acute, infection-induced, susceptibility to, 12 + + + + IIAE12 + + @@ -337550,6 +410816,12 @@ cardiomyopathy, dilated, 2i cardiomyopathy, dilated, 2i + + + + CMD2I + + @@ -337573,6 +410845,12 @@ epilepsy, early-onset, 3, with or without developmental delay epilepsy, early-onset, 3, with or without developmental delay + + + + EPEO3 + + @@ -337595,6 +410873,12 @@ cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay + + + + CCDDRD + + @@ -337605,6 +410889,12 @@ congenital smooth muscle hamartoma, with or without hemihypertrophy congenital smooth muscle hamartoma, with or without hemihypertrophy + + + + CSMH + + @@ -337618,6 +410908,12 @@ thrombocytopenia, autosomal dominant, 8 thrombocytopenia 8, with dysmorphic features and developmental delay + + + + THC8 + + @@ -337630,6 +410926,12 @@ thrombocytopenia, autosomal dominant, 9 thrombocytopenia 9 + + + + THC9 + + @@ -337641,6 +410943,12 @@ chromosome 11 open reading frame 49 CSTPP1 + + + + CSTPP1 + + @@ -337652,6 +410960,12 @@ amegakaryocytic thrombocytopenia, congenital, 2 amegakaryocytic thrombocytopenia, congenital, 2 + + + + CAMT2 + + @@ -337675,6 +410989,12 @@ parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development + + + + PARK25 + + @@ -337686,6 +411006,12 @@ variegate porphyria, homozygous variant variegate porphyria, childhood-onset + + + + VPCO + + @@ -337698,6 +411024,12 @@ thrombocytopenia, autosomal recessive, 10 thrombocytopenia 10 + + + + THC10 + + @@ -337721,6 +411053,12 @@ bleeding disorder, platelet-type, 25 bleeding disorder, platelet-type, 25 + + + + BDPLT25 + + @@ -337743,6 +411081,12 @@ neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities + + + + NEDFBA + + @@ -337766,6 +411110,12 @@ spermatogenic failure 85 spermatogenic failure 85 + + + + SPGF85 + + @@ -337789,6 +411139,12 @@ SAMD7 + + + + SAMD7 + + @@ -337811,6 +411167,12 @@ neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies + + + + NEDLBF + + @@ -337834,6 +411196,12 @@ spermatogenic failure 86 spermatogenic failure 86 + + + + SPGF86 + + @@ -337857,6 +411225,12 @@ spermatogenic failure 87 spermatogenic failure 87 + + + + SPGF87 + + @@ -337881,6 +411255,12 @@ ziegler-huang syndrome ziegler-huang syndrome + + + + ZHS + + @@ -337903,6 +411283,12 @@ neurodevelopmental disorder with language delay and variable cognitive abnormalities neurodevelopmental disorder with language delay and variable cognitive abnormalities + + + + NEDLC + + @@ -337914,6 +411300,12 @@ developmental and epileptic encephalopathy 111 developmental and epileptic encephalopathy 111 + + + + DEE111 + + @@ -337936,6 +411328,12 @@ ichthyosis with erythrokeratoderma ichthyosis with erythrokeratoderma + + + + IEKD + + @@ -337947,6 +411345,12 @@ xgip syndrome xerosis and growth failure with immune and pulmonary dysfunction syndrome + + + + XGIP + + @@ -337969,6 +411373,12 @@ fliedner-zweier syndrome fliedner-zweier syndrome + + + + FZS + + @@ -337980,6 +411390,12 @@ spastic paraplegia 18a, autosomal dominant spastic paraplegia 18a, autosomal dominant + + + + SPG18A + + @@ -338003,6 +411419,12 @@ immune dysregulation, autoimmunity, and autoinflammation immune dysregulation, autoimmunity, and autoinflammation + + + + IDAA + + @@ -338025,6 +411447,12 @@ neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction + + + + NEDRSO + + @@ -338047,6 +411475,12 @@ arrhythmogenic cardiomyopathy with variable ectodermal abnormalities arrhythmogenic cardiomyopathy with variable ectodermal abnormalities + + + + ARCME + + @@ -338059,6 +411493,12 @@ neuropathy, distal hereditary motor, 11 neuronopathy, distal hereditary motor, autosomal dominant 11 + + + + HMND11 + + @@ -338081,6 +411521,12 @@ hyper-ige syndrome 6, autosomal dominant, with recurrent infections hyper-ige syndrome 6, autosomal dominant, with recurrent infections + + + + HIES6 + + @@ -338104,6 +411550,12 @@ neutropenia, severe congenital, 10, autosomal recessive neutropenia, severe congenital, 10, autosomal recessive + + + + SCN10 + + @@ -338126,6 +411578,12 @@ developmental delay, dysmorphic facies, and brain anomalies developmental delay, dysmorphic facies, and brain anomalies + + + + DEVDFB + + @@ -338136,6 +411594,12 @@ alport syndrome 3b, autosomal recessive alport syndrome 3b, autosomal recessive + + + + ATS3B + + @@ -338159,6 +411623,12 @@ developmental and epileptic encephalopathy 112 developmental and epileptic encephalopathy 112 + + + + DEE112 + + @@ -338170,6 +411640,12 @@ spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia + + + + SPG91 + + @@ -338180,6 +411656,12 @@ developmental delay with or without epilepsy developmental delay with or without epilepsy + + + + DEVEP + + @@ -338193,6 +411675,12 @@ vrk1-related motor neuron disease neuronopathy, distal hereditary motor, autosomal recessive 10 + + + + HMNR10 + + @@ -338216,6 +411704,12 @@ arthrogryposis, distal, type 12 arthrogryposis, distal, type 12 + + + + DA12 + + @@ -338240,6 +411734,12 @@ congenital disorder of glycosylation, type iibb congenital disorder of glycosylation, type iibb + + + + CDG2BB + + @@ -338251,6 +411751,12 @@ spermatogenic failure 88 spermatogenic failure 88 + + + + SPGF88 + + @@ -338262,6 +411768,12 @@ premature ovarian failure 22 premature ovarian failure 22 + + + + POF22 + + @@ -338285,6 +411797,12 @@ optic atrophy 14 optic atrophy 14 + + + + OPA14 + + @@ -338308,6 +411826,12 @@ deafness, autosomal recessive 121 deafness, autosomal recessive 121 + + + + DFNB121 + + @@ -338318,6 +411842,12 @@ craniometadiaphyseal osteosclerosis with hip dysplasia craniometadiaphyseal osteosclerosis with hip dysplasia + + + + CMDOH + + @@ -338341,6 +411871,12 @@ immunodeficiency 113 with autoimmunity and autoinflammation immunodeficiency 113 with autoimmunity and autoinflammation + + + + IMD113 + + @@ -338364,6 +411900,12 @@ cornelia lange lange syndrome 6 cornelia lange lange syndrome 6 + + + + CDLS6 + + @@ -338375,6 +411917,12 @@ leber-like hereditary optic neuropathy, autosomal recessive 2 leber-like hereditary optic neuropathy, autosomal recessive 2 + + + + LHONAR2 + + @@ -338399,6 +411947,12 @@ ciliary dyskinesia, primary, 52, with or without situs inversus ciliary dyskinesia, primary, 52 + + + + CILD52 + + @@ -338422,6 +411976,12 @@ otosclerosis 11 otosclerosis 11 + + + + OTSC11 + + @@ -338445,6 +412005,12 @@ optic atrophy 15 optic atrophy 15 + + + + OPA15 + + @@ -338468,6 +412034,12 @@ garg-mishra progeroid syndrome garg-mishra progeroid syndrome + + + + GMPGS + + @@ -338491,6 +412063,12 @@ lymphatic malformation 14 lymphatic malformation 14 + + + + LMPHM14 + + @@ -338502,6 +412080,12 @@ immunodeficiency 114, folate-responsive immunodeficiency 114, folate-responsive + + + + IMD114 + + @@ -338513,6 +412097,12 @@ spastic paraplegia 72b, autosomal recessive spastic paraplegia 72b, autosomal recessive + + + + SPG72B + + @@ -338524,6 +412114,12 @@ spastic paraplegia 30b, autosomal recessive spastic paraplegia 30b, autosomal recessive + + + + SPG30B + + @@ -338546,6 +412142,12 @@ long-olsen-distelmaier syndrome long-olsen-distelmaier syndrome + + + + LNGODS + + @@ -338569,6 +412171,12 @@ oocyte/zygote/embryo maturation arrest 21 oocyte/zygote/embryo maturation arrest 21 + + + + OZEMA21 + + @@ -338580,6 +412188,12 @@ optic atrophy 16 optic atrophy 16 + + + + OPA16 + + @@ -338603,6 +412217,12 @@ immunodeficiency 115 with autoinflammation immunodeficiency 115 with autoinflammation + + + + IMD115 + + @@ -338626,6 +412246,12 @@ cardiomyopathy, dilated, 2j cardiomyopathy, dilated, 2j + + + + CMD2J + + @@ -338636,6 +412262,12 @@ neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline + + + + CONDCAC + + @@ -338659,6 +412291,12 @@ osteogenesis imperfecta, type 23 osteogenesis imperfecta, type 23 + + + + OI23 + + @@ -338681,6 +412319,12 @@ tan-almurshedi syndrome tan-almurshedi syndrome + + + + TANALS + + @@ -338704,6 +412348,12 @@ ciliary dyskinesia, primary, 53 ciliary dyskinesia, primary, 53 + + + + CILD53 + + @@ -338727,6 +412377,12 @@ combined oxidative phosphorylation deficiency 59 combined oxidative phosphorylation deficiency 59 + + + + COXPD59 + + @@ -338750,6 +412406,12 @@ progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 + + + + PEOB6 + + @@ -338772,6 +412434,12 @@ diabetes, deafness, developmental delay, and short stature syndrome diabetes, deafness, developmental delay, and short stature syndrome + + + + DDDS + + @@ -338795,6 +412463,12 @@ intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly + + + + MRT80 + + @@ -338818,6 +412492,12 @@ thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies + + + + THC11 + + @@ -338840,6 +412520,12 @@ alfadhel syndrome alfadhel syndrome + + + + AFDL + + @@ -338855,6 +412541,12 @@ amyloidosis, van allen type amyloidosis, hereditary systemic 3 + + + + AMYLD3 + + @@ -338878,6 +412570,12 @@ amyloidosis, hereditary systemic 5 amyloidosis, hereditary systemic 5 + + + + AMYLD5 + + @@ -338889,6 +412587,12 @@ amyloidosis, hereditary systemic 6 amyloidosis, hereditary systemic 6 + + + + AMYLD6 + + @@ -338899,6 +412603,12 @@ hoxha-aliu syndrome hoxha-aliu syndrome + + + + HXAL + + @@ -338909,6 +412619,12 @@ spondyloepimetaphyseal dysplasia, guo-campeau type spondyloepimetaphyseal dysplasia, guo-campeau type + + + + SEMDGC + + @@ -338920,6 +412636,12 @@ spastic ataxia 10, autosomal recessive spastic ataxia 10, autosomal recessive + + + + SPAX10 + + @@ -338932,6 +412654,12 @@ immunodeficiency 117, mycobacteriosis, autosomal recessive immunodeficiency 117 + + + + IMD117 + + @@ -338943,6 +412671,12 @@ neurodegeneration with brain iron accumulation 9 neurodegeneration with brain iron accumulation 9 + + + + NBIA9 + + @@ -338954,6 +412688,12 @@ immunodeficiency, common variable, 15 immunodeficiency, common variable, 15 + + + + CVID15 + + @@ -338965,6 +412705,12 @@ neutropenia, severe congenital, 11, autosomal dominant neutropenia, severe congenital, 11, autosomal dominant + + + + SCN11 + + @@ -338976,6 +412722,12 @@ leukodystrophy, hypomyelinating, 27 leukodystrophy, hypomyelinating, 27 + + + + HLD27 + + @@ -338999,6 +412751,12 @@ lipodystrophy, familial partial, type 8 lipodystrophy, familial partial, type 8 + + + + FPLD8 + + @@ -339010,6 +412768,12 @@ lipodystrophy, congenital generalized, type 5 lipodystrophy, congenital generalized, type 5 + + + + CGL5 + + @@ -339036,6 +412800,12 @@ myoclonic epilepsy of lafora 2 myoclonic epilepsy of lafora 2 + + + + MELF2 + + @@ -339058,6 +412828,12 @@ lipodystrophy, familial partial, type 9 lipodystrophy, familial partial, type 9 + + + + FPLD9 + + @@ -339069,6 +412845,12 @@ premature ovarian failure 23 premature ovarian failure 23 + + + + POF23 + + @@ -339080,6 +412862,12 @@ moyamoya disease 7 moyamoya disease 7 + + + + MYMY7 + + @@ -339103,6 +412891,12 @@ intellectual developmental disorder, autosomal dominant 74 intellectual developmental disorder, autosomal dominant 74 + + + + MRD74 + + @@ -339113,6 +412907,12 @@ developmental dysplasia of the hip 3 developmental dysplasia of the hip 3 + + + + DDH3 + + @@ -339136,6 +412936,12 @@ maple syrup urine disease, type 1b maple syrup urine disease, type 1b + + + + MSUD1B + + @@ -339159,6 +412965,12 @@ maple syrup urine disease, type 2 maple syrup urine disease, type 2 + + + + MSUD2 + + @@ -339182,6 +412994,12 @@ intellectual developmental disorder, autosomal recessive 81 intellectual developmental disorder, autosomal recessive 81 + + + + MRT81 + + @@ -339204,6 +413022,12 @@ yuksel-vogel-bauer syndrome yuksel-vogel-bauer syndrome + + + + YUVOB + + @@ -339214,6 +413038,12 @@ encephalopathy, porphyria-related encephalopathy, porphyria-related + + + + ENCEP + + @@ -339237,6 +413067,12 @@ spermatogenic failure 89 spermatogenic failure 89 + + + + SPGF89 + + @@ -339248,6 +413084,12 @@ epidermolytic hyperkeratosis 2b, autosomal recessive epidermolytic hyperkeratosis 2b, autosomal recessive + + + + EHK2B + + @@ -339271,6 +413113,12 @@ LRRC23 + + + + LRRC23 + + @@ -339281,6 +413129,12 @@ leukoencephalopathy, porphyria-related leukoencephalopathy, porphyria-related + + + + LENCEP + + @@ -339291,6 +413145,12 @@ polydactyly-macrocephaly syndrome polydactyly-macrocephaly syndrome + + + + PDMCS + + @@ -339314,6 +413174,12 @@ deafness, autosomal recessive 122 deafness, autosomal recessive 122 + + + + DFNB122 + + @@ -339336,6 +413202,12 @@ bleeding disorder, vascular-type bleeding disorder, vascular-type + + + + BDVAS + + @@ -339359,6 +413231,12 @@ orofaciodigital syndrome 20 orofaciodigital syndrome 20 + + + + OFD20 + + @@ -339370,6 +413248,12 @@ paddas syndrome neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism + + + + NEDMSF + + @@ -339381,6 +413265,12 @@ deafness, autosomal dominant 90 deafness, autosomal dominant 90 + + + + DFNA90 + + @@ -339392,6 +413282,12 @@ bethlem myopathy 1b bethlem myopathy 1b + + + + BTHLM1B + + @@ -339403,6 +413299,12 @@ bethlem myopathy 1c bethlem myopathy 1c + + + + BTHLM1C + + @@ -339416,6 +413318,12 @@ This term has one or more labels that end with ', INCLUDED'. ullrich congenital muscular dystrophy 1b + + + + UCMD1B + + @@ -339427,6 +413335,12 @@ ullrich congenital muscular dystrophy 1c ullrich congenital muscular dystrophy 1c + + + + UCMD1C + + @@ -339449,6 +413363,12 @@ hyperferritinemia hyperferritinemia + + + + HRFT + + @@ -339471,6 +413391,12 @@ hyperemesis gravidarum, susceptibility to hyperemesis gravidarum, susceptibility to + + + + HG + + @@ -339494,6 +413420,12 @@ microphthalmia/coloboma 11 microphthalmia/coloboma 11 + + + + MCOPCB11 + + @@ -339516,6 +413448,12 @@ neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities + + + + NEDMSB + + @@ -339527,6 +413465,12 @@ cardiomyopathy, familial hypertrophic, 30, atrial cardiomyopathy, familial hypertrophic, 30, atrial + + + + CMH30 + + @@ -339557,6 +413501,12 @@ zpa regulatory sequence ZRS + + + + ZRS + + @@ -339580,6 +413530,12 @@ spermatogenic failure 90 spermatogenic failure 90 + + + + SPGF90 + + @@ -339603,6 +413559,12 @@ deafness, autosomal recessive 123 deafness, autosomal recessive 123 + + + + DFNB123 + + @@ -339625,6 +413587,12 @@ neurodevelopmental disorder with hypotonia and characteristic brain abnormalities neurodevelopmental disorder with hypotonia and characteristic brain abnormalities + + + + NEDHBA + + @@ -339647,6 +413615,12 @@ neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities + + + + NEDPBA + + @@ -339657,6 +413631,12 @@ megalencephaly-polydactyly syndrome megalencephaly-polydactyly syndrome + + + + MPAPA + + @@ -339669,6 +413649,12 @@ generalized epilepsy with febrile seizures plus, type 12 generalized epilepsy with febrile seizures plus, type 12 + + + + GEFSP12 + + @@ -339680,6 +413666,12 @@ thrombocytopenia 12 with or without myopathy thrombocytopenia 12 with or without myopathy + + + + THC12 + + @@ -339702,6 +413694,12 @@ macular dystrophy with or without cone dysfunction macular dystrophy with or without cone dysfunction + + + + MDCD + + @@ -339714,6 +413712,12 @@ lisch epithelial corneal dystrophy corneal dystrophy, lisch epithelial + + + + LECD + + @@ -339736,6 +413740,12 @@ seckel syndrome 11 seckel syndrome 11 + + + + SCKL11 + + @@ -339746,6 +413756,12 @@ jeffries-lakhani neurodevelopmental syndrome jeffries-lakhani neurodevelopmental syndrome + + + + JELANS + + @@ -339769,6 +413785,12 @@ developmental and epileptic encephalopathy 113 developmental and epileptic encephalopathy 113 + + + + DEE113 + + @@ -339780,6 +413802,12 @@ developmental and epileptic encephalopathy 114 developmental and epileptic encephalopathy 114 + + + + DEE114 + + @@ -339802,6 +413830,12 @@ neuromuscular disorder, congenital, with dysmorphic facies neuromuscular disorder, congenital, with dysmorphic facies + + + + NMDF + + @@ -339814,6 +413848,12 @@ thrombocytopenia, autosomal recessive, 13 thrombocytopenia 13, syndromic + + + + THC13 + + @@ -339837,6 +413877,12 @@ pulmonary hypertension, primary, 6 pulmonary hypertension, primary, 6 + + + + PPH6 + + @@ -339860,6 +413906,12 @@ intellectual developmental disorder, autosomal recessive 82 intellectual developmental disorder, autosomal recessive 82 + + + + MRT82 + + @@ -339871,6 +413923,12 @@ cutis laxa, autosomal recessive, type 1d cutis laxa, autosomal recessive, type 1d + + + + ARCL1D + + @@ -339881,6 +413939,12 @@ neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder + + + + NEDLAAD + + @@ -339892,6 +413956,12 @@ developmental and epileptic encephalopathy 115 developmental and epileptic encephalopathy 115 + + + + DEE115 + + @@ -339902,6 +413972,12 @@ neurodevelopmental disorder plus optic atrophy neurodevelopmental disorder plus optic atrophy + + + + NEDOA + + @@ -339924,6 +414000,12 @@ neurodevelopmental disorder with progressive movement abnormalities neurodevelopmental disorder with progressive movement abnormalities + + + + NEDPM + + @@ -339946,6 +414028,12 @@ basal ganglia calcification, idiopathic, 9, autosomal recessive basal ganglia calcification, idiopathic, 9, autosomal recessive + + + + IBGC9 + + @@ -339968,6 +414056,12 @@ aplasia cutis-enamel dysplasia syndrome aplasia cutis-enamel dysplasia syndrome + + + + ACED + + @@ -339990,6 +414084,12 @@ neurodevelopmental disorder with hypotonia and seizures neurodevelopmental disorder with hypotonia and seizures + + + + NEDHS + + @@ -340001,6 +414101,12 @@ otosclerosis 12 otosclerosis 12 + + + + OTSC12 + + @@ -340024,6 +414130,12 @@ muscular dystrophy, limb-girdle, autosomal recessive 29 muscular dystrophy, limb-girdle, autosomal recessive 29 + + + + LGMDR29 + + @@ -340047,6 +414159,12 @@ deafness, autosomal recessive 124 deafness, autosomal recessive 124 + + + + DFNB124 + + @@ -340069,6 +414187,12 @@ autoinflammation with episodic fever and immune dysregulation autoinflammation with episodic fever and immune dysregulation + + + + AIFID + + @@ -340092,6 +414216,12 @@ proteasome-associated autoinflammatory syndrome 6 proteasome-associated autoinflammatory syndrome 6 + + + + PRAAS6 + + @@ -340103,6 +414233,12 @@ developmental and epileptic encephalopathy 116 developmental and epileptic encephalopathy 116 + + + + DEE116 + + @@ -340114,6 +414250,12 @@ immunodeficiency 121 with autoinflammation immunodeficiency 121 with autoinflammation + + + + IMD121 + + @@ -340137,6 +414279,12 @@ mhc class 1 deficiency 2 mhc class 1 deficiency 2 + + + + MHC1D2 + + @@ -340160,6 +414308,12 @@ mhc class 1 deficiency 3 mhc class 1 deficiency 3 + + + + MHC1D3 + + @@ -340184,6 +414338,12 @@ mhc class 2 deficiency 2 mhc class 2 deficiency 2 + + + + MHC2D2 + + @@ -340196,6 +414356,12 @@ mhc class 2 deficiency 3 mhc class 2 deficiency 3 + + + + MHC2D3 + + @@ -340220,6 +414386,12 @@ mhc class 2 deficiency 4 mhc class 2 deficiency 4 + + + + MHC2D4 + + @@ -340232,6 +414404,12 @@ mhc class 2 deficiency 5 mhc class 2 deficiency 5 + + + + MHC2D5 + + @@ -340243,6 +414421,12 @@ rothmund-thomson syndrome, type 4 rothmund-thomson syndrome, type 4 + + + + RTS4 + + @@ -340266,6 +414450,12 @@ neurodevelopmental disorder with absent speech, impaired intellectual development, and autism el hayek-chahrour neurodevelopmental syndrome + + + + NEDEHC + + @@ -340289,6 +414479,12 @@ RNU4-2 + + + + RNU4-2 + + @@ -340312,6 +414508,12 @@ immunodeficiency 119 immunodeficiency 119 + + + + IMD119 + + @@ -340334,6 +414536,12 @@ auroneurodental syndrome auroneurodental syndrome + + + + ANDS + + @@ -340345,6 +414553,12 @@ immunodeficiency 120 immunodeficiency 120 + + + + IMD120 + + @@ -340368,6 +414582,12 @@ spermatogenic failure 91 spermatogenic failure 91 + + + + SPGF91 + + @@ -340391,6 +414611,12 @@ premature ovarian failure 24 premature ovarian failure 24 + + + + POF24 + + @@ -340414,6 +414640,12 @@ spermatogenic failure 92 spermatogenic failure 92 + + + + SPGF92 + + @@ -340437,6 +414669,12 @@ spermatogenic failure 93 spermatogenic failure 93 + + + + SPGF93 + + @@ -340460,6 +414698,12 @@ spermatogenic failure 94 spermatogenic failure 94 + + + + SPGF94 + + @@ -340483,6 +414727,12 @@ renu syndrome renu syndrome + + + + RENU + + @@ -340505,6 +414755,12 @@ neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities + + + + NEDHFDB + + @@ -340517,6 +414773,12 @@ neuropathy, distal hereditary motor, autosomal recessive 11, with spasticity neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity + + + + HMNR11 + + @@ -340528,6 +414790,12 @@ ehlers-danlos syndrome, classic-like, 3 ehlers-danlos syndrome, classic-like, 3 + + + + EDSCLL3 + + @@ -340551,6 +414819,12 @@ immunodeficiency 122 immunodeficiency 122 + + + + IMD122 + + @@ -340576,6 +414850,12 @@ FICD + + + + FICD + + @@ -340599,6 +414879,12 @@ deafness, autosomal recessive 125 deafness, autosomal recessive 125 + + + + DFNB125 + + @@ -340609,6 +414895,12 @@ autoinflammation with arthritis and vasculitis autoinflammation with arthritis and vasculitis + + + + AIARV + + @@ -340620,6 +414912,12 @@ multiple mitochondrial dysfunctions syndrome 9b multiple mitochondrial dysfunctions syndrome 9b + + + + MMDS9B + + @@ -340642,6 +414940,12 @@ neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 + + + + NEDFET1 + + @@ -340664,6 +414968,12 @@ cardiomyopathy, dilated, 2k cardiomyopathy, dilated, 2k + + + + CMD2K + + @@ -340686,6 +414996,12 @@ ovarian dysgenesis 11 ovarian dysgenesis 11 + + + + ODG11 + + @@ -340708,6 +415024,12 @@ short tandem repeat, tttg(4), thyroid-specific STRTS + + + + STRTS + + @@ -340731,6 +415053,12 @@ immunodeficiency 123 with hpv-related verrucosis immunodeficiency 123 with hpv-related verrucosis + + + + IMD123 + + @@ -340742,6 +415070,12 @@ polycystic kidney disease 8 polycystic kidney disease 8 + + + + PKD8 + + @@ -340752,6 +415086,12 @@ arterial tortuosity-bone fragility syndrome arterial tortuosity-bone fragility syndrome + + + + ATBFS + + @@ -340774,6 +415114,12 @@ otofacial neurodevelopmental syndrome otofacial neurodevelopmental syndrome + + + + OFNS + + @@ -340797,6 +415143,12 @@ spastic paraplegia 92, autosomal recessive spastic paraplegia 92, autosomal recessive + + + + SPG92 + + @@ -340820,6 +415172,12 @@ spermatogenic failure 95 spermatogenic failure 95 + + + + SPGF95 + + @@ -340843,6 +415201,12 @@ parkinson disease 26, autosomal dominant, susceptibility to parkinson disease 26, autosomal dominant, susceptibility to + + + + PARK26 + + @@ -340866,6 +415230,12 @@ immunodeficiency 125 immunodeficiency 125 + + + + IMD125 + + @@ -340889,6 +415259,139 @@ immunodeficiency 126, susceptibility to immunodeficiency 126, susceptibility to + + + + IMD126 + + + + + + + + + KAREVS + kariminejad-reversade neurodevelopmental syndrome + kariminejad-reversade neurodevelopmental syndrome + + + + + KAREVS + + + + + + + + + + SPG93 + spastic paraplegia 93, autosomal recessive + spastic paraplegia 93, autosomal recessive + + + + + SPG93 + + + + + + + + + MFANDO + myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities + myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities + + + + + MFANDO + + + + + + + + + + MAHCL + methylmalonic aciduria and homocystinuria, cbll type + methylmalonic aciduria and homocystinuria, cbll type + + + + + MAHCL + + + + + + + + + + + + + + + + + + + + + BMRS + brain malformation renal syndrome + brain malformation renal syndrome + + + + + BMRS + + + + + + + + + + SCA51 + spinocerebellar ataxia 51 + spinocerebellar ataxia 51 + + + + + SCA51 + + + + + + + + + ENPAT + encephalopathy, acute transient + encephalopathy, acute transient + + + + + ENPAT + + @@ -343541,6 +418044,15 @@ + + + + Homocystinuria-megaloblastic anemia + Homocystinuria-megaloblastic anemia + + + + @@ -343748,6 +418260,15 @@ + + + + Methylmalonic aciduria + Methylmalonic aciduria + + + + @@ -352477,6 +426998,19 @@ + + + + + + + + + + + + + diff --git a/src/scripts/exclusion_table_creation.py b/src/scripts/exclusion_table_creation.py index 5f0af94e..84259a9c 100644 --- a/src/scripts/exclusion_table_creation.py +++ b/src/scripts/exclusion_table_creation.py @@ -54,11 +54,9 @@ class having `True` for `exclude_children`, but the child class has `False`. # Functions -# TODO: evaluate https://github.com/cthoyt/curies , which likely has fully superseded new bioregistry option -# https://github.com/biopragmatics/bioregistry/issues/480#issuecomment-1199235747 def uri_to_curie(uri: str, prefix_map: Dict[str, str]) -> str: """Takes an ontological URI and returns a CURIE. Works on the following patterns - todo: eventually OAK might also have an optimal solution for this.""" + todo: migrate usage of this function to curies .compress()""" if uri.startswith('<'): uri = uri[1:] if uri.endswith('>'): diff --git a/src/scripts/match-mondo-sources-all-lexical.py b/src/scripts/match-mondo-sources-all-lexical.py index ca3423b1..c0f858c4 100644 --- a/src/scripts/match-mondo-sources-all-lexical.py +++ b/src/scripts/match-mondo-sources-all-lexical.py @@ -30,7 +30,6 @@ from sssom.parsers import parse_sssom_table from sssom.writers import write_table from sssom.io import get_metadata_and_prefix_map, filter_file -from bioregistry import curie_from_iri SRC = Path(__file__).resolve().parents[1] ONTOLOGY_DIR = SRC / "ontology" @@ -125,6 +124,7 @@ def run(input: str, config: str, rules: str, rejects: str, output: str): # msdf.prefix_map = sssom_yaml['curie_map'] # msdf.metadata = sssom_yaml['global_metadata'] + # todo: if the need for IRI to CURIE conversion rearises, use the curies .compress() instead of bioregistry # ! The block below converts IRI into CURIE using bioregistry. # msdf.df[SUBJECT_ID] = msdf.df[SUBJECT_ID].apply( # lambda x: iri_to_curie(x) if x.startswith("A oboInOwl:source SPLIT=|', 'original_label': '', 'definition': 'A IAO:0000115', 'parents': 'SC %'} + 'mondo_id': 'ID', + 'mondo_label': 'LABEL', + 'xref': 'A oboInOwl:hasDbXref', + 'xref_source': '>A oboInOwl:source SPLIT=|', + 'original_label': '', + 'definition': 'A IAO:0000115', + 'parents': 'SC %' +} def _valid_parent_conditions( parents: List[CURIE], mapped: Set[CURIE], excluded: Set[CURIE], obsolete: Set[CURIE] diff --git a/src/scripts/unmapped_tables.py b/src/scripts/unmapped_tables.py index 77de8fee..63ca2845 100644 --- a/src/scripts/unmapped_tables.py +++ b/src/scripts/unmapped_tables.py @@ -27,7 +27,7 @@ def create_mapping_status_tables( ) -> Dict[str, pd.DataFrame]: """Create mapping status tables""" # Load sources - # - prefix_preplacement_map: Cases where mondo-ingest prefixes differ from bioregistry/OAK, e.g. Orphanet vs ORDO + # - prefix_replacement_map: Fixes mondo-ingest prefixes differing from those in packages used (ex: Orphanet vs ORDO) # todo: refactor duplicate/similar blocks to a single function with open(onto_config_path, 'r') as stream: onto_config = yaml.safe_load(stream) diff --git a/src/sparql/convert-OMO_0003000-to-MONDO_ABBREVIATION.ru b/src/sparql/convert-OMO_0003000-to-MONDO_ABBREVIATION.ru new file mode 100644 index 00000000..71781666 --- /dev/null +++ b/src/sparql/convert-OMO_0003000-to-MONDO_ABBREVIATION.ru @@ -0,0 +1,18 @@ +PREFIX rdf: +PREFIX rdfs: +PREFIX owl: +PREFIX oboInOwl: + +DELETE { + ?axiom oboInOwl:hasSynonymType . +} +INSERT { + ?axiom oboInOwl:hasSynonymType . + + a owl:AnnotationProperty ; + rdfs:subPropertyOf oboInOwl:SynonymTypeProperty . +} +WHERE { + ?axiom a owl:Axiom ; + oboInOwl:hasSynonymType . +} \ No newline at end of file