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relabel hereditary glaucoma, primary closed-angle #8781

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Feb 25, 2025
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relabel hereditary glaucoma, primary closed-angle #8781

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be5e2ea
relabel hereditary glaucoma, primary closed-angle
nicolevasilevsky Feb 25, 2025
6e11d0c
reclassify 'neovascular glaucoma' as a subclass of 'angle-closure gla…
nicolevasilevsky Feb 25, 2025
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11 changes: 6 additions & 5 deletions src/ontology/mondo-edit.obo
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Original file line number Diff line number Diff line change
Expand Up @@ -30893,9 +30893,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12803/phaeoh
id: MONDO:0001868
name: primary angle-closure glaucoma
def: "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." [DOID:1405]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0030038 glaucoma, primary closed-angle'
subset: clingen {source="MONDO:CLINGEN"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "primary angle closure glaucoma" EXACT [DOID:1405]
xref: DOID:1405 {source="MONDO:equivalentTo"}
Expand All @@ -30918,7 +30916,6 @@ is_a: MONDO:0001744 {source="DOID:1405"} ! angle-closure glaucoma
is_a: MONDO:0005041 {source="DOID:1405/inferred", source="EFO:1001506", source="ICD10CM:H40.2/inferred", source="MONDO:Redundant", source="NCIT:C34639"} ! glaucoma
relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0001868 {source="MONDO:CLINGEN"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8052" xsd:anyURI
property_value: IAO:0006012 "2024-12-01" xsd:string

[Term]
id: MONDO:0001869
Expand Down Expand Up @@ -448082,6 +448079,7 @@ xref: SCTID:193564003 {source="DOID:1687"}
xref: SCTID:232086000 {source="DOID:1687", source="MONDO:equivalentTo", source="EFO:1001060"}
xref: SCTID:314785001 {source="DOID:1687"}
xref: UMLS:C0017609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4898"}
is_a: MONDO:0001744 {source="https://orcid.org/0000-0001-5208-3432"} ! angle-closure glaucoma
is_a: MONDO:0005041 {source="DOID:1687", source="EFO:1001060", source="MESH:D015355"} ! glaucoma

[Term]
Expand Down Expand Up @@ -499249,16 +499247,19 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/

[Term]
id: MONDO:0030038
name: glaucoma, primary closed-angle
name: hereditary glaucoma, primary closed-angle
subset: otar {source="MONDO:OTAR"}
synonym: "GLAUCOMA, PRIMARY CLOSED-ANGLE" EXACT [OMIM:618880]
synonym: "glaucoma, primary closed-angle" EXACT [OMIM:618880]
synonym: "GLCC" EXACT ABBREVIATION [OMIM:618880]
synonym: "hereditary primary angle-closure glaucoma" EXACT [https://my.clevelandclinic.org/health/diseases/angle-closure-glaucoma]
xref: MEDGEN:1712967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618880 {source="MONDO:equivalentTo"}
xref: UMLS:C5394374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712967"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0001868 ! primary angle-closure glaucoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2195 ! COL18A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2195 {source="OMIM:618880"} ! COL18A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8052" xsd:anyURI

[Term]
id: MONDO:0030042
Expand Down