Update gene/inheritance of autosomal recessive nonsyndromic deafness 26

Issue #1090
DiseaseOntology · Jan 8, 2025 · 8f68ac6 · 8f68ac6
1 parent 82d4859
commit 8f68ac6
Showing 1 changed file with 1 addition and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -75967,7 +75967,7 @@ SubClassOf(obo:DOID_0110483 obo:DOID_0050565)
 
 # Class: obo:DOID_0110484 (autosomal recessive nonsyndromic deafness 26)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11101839") obo:IAO_0000115 obo:DOID_0110484 "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31."@en)
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11101839") obo:IAO_0000115 obo:DOID_0110484 "An autosomal recessive nonsyndromic deafness that has_material_basis_in  homozygous mutation in the GAB1 gene on chromosome 4q31."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110484 "ICD10CM:H90.3")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110484 "MIM:605428")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110484 "DFNB26"@en)