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Human Disease

autosomal dominant nonsyndromic deafness 12

Term ID
DOID:0110544
Synonyms
  • autosomal dominant deafness 12
  • autosomal dominant deafness 8
  • DFNA12
  • DFNA8
Definition
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/9590290
References
  • ICD10CM:H90.3
  • MIM:601543
Ontology
Human Disease   ( DOID:0110544 )
Relationships
is a type of
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