Metadata | |
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ID | DOID:0110559 |
Name | autosomal dominant nonsyndromic deafness 2B |
Definition | An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. https://www.ncbi.nlm.nih.gov/pubmed/9843210 |
Xrefs | |
Synonyms |
autosomal dominant deafness 2B [EXACT] DFNA2B [EXACT] |
Parent Relationships |