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DOID:0060690 - autosomal dominant auditory neuropathy 1
Disease Ontology Definition:An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.
Synonyms: AUNA1, NSDAN, nonsyndromic dominant auditory neuropathy,
Echinobase Genes :
MIM:609129 - auditory neuropathy, autosomal dominant, 1; auna1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee