Term Name: | autosomal dominant nonsyndromic deafness 1 |
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Synonyms: | autosomal dominant deafness 1, autosomal dominant deafness 1, with or without thrombocytopenia, DFNA1, hereditary low frequency hearing loss 1, Konigsmark syndrome, LFHL1 |
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. |
Ontology: | Human Disease [DOID:0110541] ( DOID:0110541 ) |