update gene symbol in MONDO:0100551 (#8392)

* update gene symbol in MONDO:0100551 * Update mondo-edit.obo --------- Co-authored-by: Sabrina Toro <[email protected]>
monarch-initiative · Nov 14, 2024 · 085f3f1 · 085f3f1
1 parent 27ab7a4
commit 085f3f1
Showing 1 changed file with 4 additions and 2 deletions.
diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo
@@ -542412,15 +542412,17 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/
 
 [Term]
 id: MONDO:0100551
-name: SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss
-def: "A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly." [https://clinicalgenome.org/affiliation/40006/]
+name: AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss
+def: "A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly." [https://clinicalgenome.org/affiliation/40006/, https://clinicalgenome.org/affiliation/40113/]
 subset: inferred_rare
 subset: rare
 synonym: "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss" EXACT [https://orcid.org/0000-0001-5208-3432]
+synonym: "SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss" EXACT [https://clinicalgenome.org/affiliation/40006/]
 is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28762 {source="https://clinicalgenome.org/affiliation/40006/"} ! AFG2B
 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7317" xsd:anyURI
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7975" xsd:anyURI
 
 [Term]
 id: MONDO:0100552