OBO ID: DOID:0110569
Term Name: autosomal dominant nonsyndromic deafness 44 Search Ontology:
Synonyms:
  • autosomal dominant deafness 44
  • DFNA44
Definition: An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. https://www.ncbi.nlm.nih.gov/pubmed/17503326
References:
Ontology: Human Disease   ( DOID:0110569 )
OTHER autosomal dominant nonsyndromic deafness 44 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC50 ?Deafness, autosomal dominant 44 607453
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None