OBO ID: DOID:0060690
Term Name: autosomal dominant auditory neuropathy 1 Search Ontology:
Synonyms:
  • AUNA1
  • nonsyndromic dominant auditory neuropathy
  • NSDAN
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. (2)
References:
Ontology: Human Disease   ( DOID:0060690 )
OTHER autosomal dominant auditory neuropathy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DIAPH3 Auditory neuropathy, autosomal dominant 1 609129
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None