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Metadata
ID DOID:0110567
Name autosomal dominant nonsyndromic deafness 41
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.
https://www.ncbi.nlm.nih.gov/pubmed/24211385, https://www.omim.org/entry/608224
Xrefs

ICD10CM:H90.3

OMIM:608224

Synonyms

autosomal dominant deafness 41 [EXACT]

DFNA41 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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