Term Name: autosomal dominant nonsyndromic deafness 1
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 )

Relationships
is a type of: autosomal dominant nonsyndromic deafness