Add ClinGen syn to MONDO:0013069 (#8399)

* Add ClinGen syn to MONDO:0013069 Closes #8185 * update a few things in the comments --------- Co-authored-by: Sabrina Toro <[email protected]>
monarch-initiative · Nov 15, 2024 · fa386b7 · fa386b7
1 parent 4969be5
commit fa386b7
Showing 1 changed file with 3 additions and 0 deletions.
diff --git 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