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Human Disease

autosomal recessive nonsyndromic deafness 84A

Term ID
DOID:0110529
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 )
Relationships
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Genes Involved
Zebrafish Models