Deafness, autosomal dominant 41

Preferred Label : Deafness, autosomal dominant 41;

Symbol : DFNA41;

CISMeF acronym : DFNA41;

Type : Phenotype, molecular basis known;

Description : Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by Yan et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the purinergic receptor P2X, ligand-gated ion channel, 2 gene (P2RX2, 600844.0001);

Prefixed ID : #608224;

Details

Origin ID

608224;

UMLS CUI

C1842371;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- purinergic receptor P2X 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Deafness, Autosomal Dominant 41 [NCIt concept]
- autosomal dominant nonsyndromic deafness 41 [DO Concept]
- deafness, autosomal dominant 41 [MeSH concept]
- deafness, autosomal dominant 41 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 41 [DO Concept]
Genes related to phenotype
- Purinergic receptor p2x, ligand-gated ion channel, 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hearing impairment [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Tinnitus [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Dominant 41 [NCIt concept]
- autosomal dominant nonsyndromic deafness 41 [DO Concept]
- deafness, autosomal dominant 41 [MeSH Supplementary Concept]
- deafness, autosomal dominant 41 [MeSH concept]

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