OBO ID: DOID:0110489
Term Name: autosomal recessive nonsyndromic deafness 30 Search Ontology:
Synonyms:
  • autosomal recessive deafness 30
  • DFNB30
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/12032315
References:
Ontology: Human Disease   (DOID:0110489)
OTHER autosomal recessive nonsyndromic deafness 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MYO3A Deafness, autosomal recessive 30 607101
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None