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Metadata
ID DOID:0070611
Name autosomal dominant nonsyndromic deafness 88
Definition An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34.
https://pubmed.ncbi.nlm.nih.gov/21651318/, https://pubmed.ncbi.nlm.nih.gov/36048850/
Xrefs

MIM:620283

SKOS

exactMatch MIM:620283

Synonyms

autosomal dominant deafness 88 [EXACT]

DFNA88 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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