Search Ontology:
Human Disease

autosomal dominant nonsyndromic deafness 2B

Term ID
DOID:0110559
Synonyms
  • autosomal dominant deafness 2B
  • DFNA2B
Definition
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. https://www.ncbi.nlm.nih.gov/pubmed/9843210
References
Ontology
Human Disease   ( DOID:0110559 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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