Metadata | |
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ID | DOID:0110557 |
Name | autosomal dominant nonsyndromic deafness 28 |
Definition | An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/12393799 |
Xrefs | |
Synonyms |
autosomal dominant deafness 28 [EXACT] DFNA28 [EXACT] |
Parent Relationships |