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Metadata
ID DOID:0070604
PURL http://purl.obolibrary.org/obo/DOID_0070604 Copy
Name autosomal dominant nonsyndromic deafness 84
Definition An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.
https://pubmed.ncbi.nlm.nih.gov/35278131/
Xrefs

MIM:619810

SKOS

exactMatch MIM:619810

Synonyms

autosomal dominant deafness 84 [EXACT]

DFNA84 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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