Metadata | |
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ID | DOID:0110564 |
Name | autosomal dominant nonsyndromic deafness 3A |
Definition | An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825 |
Xrefs | |
Synonyms |
autosomal dominant deafness 3A [EXACT] DFNA3A [EXACT] |
Parent Relationships |