Search Ontology:
Human Disease

autosomal dominant auditory neuropathy 3

Term ID
DOID:0112373
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
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Genes Involved
Zebrafish Models