OBO ID: DOID:0110529
Term Name: autosomal recessive nonsyndromic deafness 84A Search Ontology:
Synonyms:
  • autosomal recessive deafness 84A
  • autosomal recessive deafness 84A with vestibular dysfunction
  • DFNB84A
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/20346435
References:
Ontology: Human Disease   (DOID:0110529)
OTHER autosomal recessive nonsyndromic deafness 84A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTPRQ Deafness, autosomal recessive 84A 613391
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None