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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

MIM:620280

SKOS

exactMatch MIM:620280

Synonyms

autosomal dominant deafness 86 [EXACT]

DFNA86 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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