Metadata | |
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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 |