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Human Disease

autosomal dominant nonsyndromic deafness 2A

Term ID
DOID:0110558
Synonyms
  • autosomal dominant deafness 2A
  • DFNA2A
Definition
An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/10025409
References
Ontology
Human Disease   ( DOID:0110558 )
Relationships
is a type of
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Genes Involved
Zebrafish Models