diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 6a0d79f2f..2fa1b9c03 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -298368,6 +298368,7 @@ is_a: MONDO:0043765 {source="DC-OMIM:612976", source="https://orcid.org/0000-000 [Term] id: MONDO:0013069 name: autosomal recessive optic atrophy, OPA7 type +def: "An optic atrophy that is caused by a mutation in the TMEM126A gene." [https://orcid.org/0009-0007-1636-9645, OMIM:612989] subset: gard_rare {source="GARD:17143", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:227976"} @@ -298377,6 +298378,7 @@ subset: rare synonym: "OPA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612989] synonym: "optic atrophy 7" EXACT [OMIM:612989, OMIM:genemap2] synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical, OMIM:612989] +synonym: "TMEM126A-related optic atrophy with or without extraocular features" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/, https://orcid.org/0009-0007-1636-9645] xref: DOID:0111437 {source="MONDO:equivalentTo"} xref: GARD:17143 {source="MONDO:GARD"} xref: ICD10CM:H47.2 {source="Orphanet:227976", source="Orphanet:227976/attributed", source="Orphanet:227976/ntbt"} @@ -298389,6 +298391,7 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0043878 {source="DC-OMIM:612989", source="MESH:C567833/inferred", source="OMIM:612989"} ! hereditary optic atrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25382 {source="MONDO:mim2gene_medgen"} ! TMEM126A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8185" xsd:anyURI [Term] id: MONDO:0013070