OBO ID: DOID:0112373
Term Name: autosomal dominant auditory neuropathy 3 Search Ontology:
Synonyms:
  • AUNA3
Definition: An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. https://pubmed.ncbi.nlm.nih.gov/34050020/
References:
Ontology: Human Disease   ( DOID:0112373 )
Relationships
is a type of:
OTHER autosomal dominant auditory neuropathy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM43 Auditory neuropathy, autosomal dominant 3 619832
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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