OBO ID: DOID:0112167
Term Name: autosomal dominant nonsyndromic deafness 76 Search Ontology:
Synonyms:
  • DFNA76
Definition: An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. (3)
References:
Ontology: Human Disease   ( DOID:0112167 )
OTHER autosomal dominant nonsyndromic deafness 76 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLS1 Deafness, autosomal dominant 76 618787
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None