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Human Disease

autosomal dominant nonsyndromic deafness 41

Term ID
DOID:0110567
Synonyms
  • autosomal dominant deafness 41
  • DFNA41
Definition
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. (2)
References
Ontology
Human Disease   ( DOID:0110567 )
Relationships
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Genes Involved
Zebrafish Models