OBO ID: DOID:0110475
Term Name: autosomal recessive nonsyndromic deafness 1A Search Ontology:
Synonyms:
  • autosomal recessive deafness 1A
  • DFNB1A
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825
References:
Ontology: Human Disease   (DOID:0110475)
OTHER autosomal recessive nonsyndromic deafness 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJB2 Deafness, digenic GJB2/GJB6 220290
Deafness, autosomal recessive 1A 220290
GJB3 Deafness, digenic, GJB2/GJB3 220290
GJB6 Deafness, autosomal recessive 1A 220290
Deafness, digenic GJB2/GJB6 220290
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None