Metadata | |
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ID | DOID:0110545 |
Name | autosomal dominant nonsyndromic deafness 13 |
Definition | An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/10581026 |
Xrefs | |
Synonyms |
autosomal dominant deafness 13 [EXACT] DFNA13 [EXACT] |
Parent Relationships |