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Human Disease

autosomal recessive nonsyndromic deafness 30

Term ID
DOID:0110489
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models