OBO ID: DOID:0110541
Term Name: autosomal dominant nonsyndromic deafness 1 Search Ontology:
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 autosomal dominant nonsyndromic deafness 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DIAPH1 Deafness, autosomal dominant 1, with or without thrombocytopenia
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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