| Metadata | |
|---|---|
| ID | DOID:0070610 |
| Name | autosomal dominant nonsyndromic deafness 86 |
| Definition | An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. https://pubmed.ncbi.nlm.nih.gov/32776944/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620280 |
| Synonyms |
autosomal dominant deafness 86 [EXACT] DFNA86 [EXACT] |
| Parent Relationships |