autosomal dominant nonsyndromic deafness 41

Summary
Synonym
  • DFNA41
  • autosomal dominant 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.
Super Class
autosomal dominant nonsyndromic deafness
External Links
Disease Ontology
DOID:0110567
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
340990 OTOG otogelin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024