OBO ID: DOID:0110467
Term Name: autosomal recessive nonsyndromic deafness 12 Search Ontology:
Synonyms:
  • autosomal recessive deafness 12
  • DFNB12
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22.https://www.ncbi.nlm.nih.gov/pubmed/11090341
References:
Ontology: Human Disease   (DOID:0110467)
Relationships
is a type of:
OTHER autosomal recessive nonsyndromic deafness 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP2B2 {Deafness, autosomal recessive 12, modifier of} 601386
CDH23 Deafness, autosomal recessive 12 601386
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None