| Metadata | |
|---|---|
| ID | DOID:0060690 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060690 Copy |
| Name | autosomal dominant auditory neuropathy 1 |
| Definition | An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. https://www.ncbi.nlm.nih.gov/pubmed/15520414, https://www.ncbi.nlm.nih.gov/pubmed/20624953 |
| Xrefs | |
| Synonyms |
AUNA1 [EXACT] nonsyndromic dominant auditory neuropathy [EXACT] NSDAN [EXACT] |
| Parent Relationships |