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Human Disease

autosomal recessive nonsyndromic deafness 1A

Term ID
DOID:0110475
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
  • ICD10CM:H90.3
  • MIM:220290
Ontology
Human Disease   ( DOID:0110475 )
Relationships
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Genes Involved
Zebrafish Models
Citations