| Metadata | |
|---|---|
| ID | DOID:0110541 |
| Name | autosomal dominant nonsyndromic deafness 1 |
| Definition | An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. https://www.ncbi.nlm.nih.gov/pubmed/9360932 |
| Xrefs | |
| Synonyms |
autosomal dominant deafness 1 [EXACT] autosomal dominant deafness 1, with or without thrombocytopenia [EXACT] DFNA1 [EXACT] hereditary low frequency hearing loss 1 [EXACT] Konigsmark syndrome [EXACT] LFHL1 [EXACT] |
| Parent Relationships |