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DOID:0110541 - autosomal dominant nonsyndromic deafness 1
Disease Ontology 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.
Synonyms: DFNA1, Konigsmark syndrome, LFHL1, autosomal dominant deafness 1, autosomal dominant deafness 1, with or without thrombocytopenia, hereditary low frequency hearing loss 1,
Echinobase Genes :
MIM:124900 - deafness, autosomal dominant 1; dfna1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee