autosomal dominant nonsyndromic deafness 86

Term ID

DOID:0070610

Synonyms

• autosomal dominant deafness 86
• DFNA86

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/

References

• MIM:620280

Ontology

Human Disease   ( DOID:0070610 )