Search Ontology:
Human Disease

autosomal dominant nonsyndromic deafness 1

Term ID
DOID:0110541
Synonyms
  • autosomal dominant deafness 1
  • autosomal dominant deafness 1, with or without thrombocytopenia
  • DFNA1
  • hereditary low frequency hearing loss 1
  • Konigsmark syndrome
  • LFHL1
Definition
An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. https://www.ncbi.nlm.nih.gov/pubmed/9360932
References
Ontology
Human Disease   ( DOID:0110541 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models