| Metadata | |
|---|---|
| ID | DOID:0110564 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110564 Copy |
| Name | autosomal dominant nonsyndromic deafness 3A |
| Definition | An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825 |
| Xrefs | |
| Synonyms |
autosomal dominant deafness 3A [EXACT] DFNA3A [EXACT] |
| Parent Relationships |