Metadata | |
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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 | |
SKOS |
exactMatch MIM:620283 |
Synonyms |
autosomal dominant deafness 88 [EXACT] DFNA88 [EXACT] |
Parent Relationships |