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Add ClinGen syn to MONDO:0013069 #8399

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Nov 15, 2024
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Add ClinGen syn to MONDO:0013069 #8399

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2a4c171
Add ClinGen syn to MONDO:0013069
katiermullen Nov 14, 2024
db84057
Merge branch 'master' into issue-8185
sabrinatoro Nov 15, 2024
9fc6191
update a few things in the comments
sabrinatoro Nov 15, 2024
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3 changes: 3 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -298363,6 +298363,7 @@ 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: "Optic atrophy with or without extraocular features that is caused by a mutation in the TMEM126A gene." [https://orcid.org/0009-0007-1636-9645, OMIM:612989]
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subset: gard_rare {source="GARD:17143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227976"}
Expand All @@ -298372,6 +298373,7 @@ 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://orcid.org/0009-0007-1636-9645]
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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"}
Expand All @@ -298384,6 +298386,7 @@ 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
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