Deafness, Autosomal Dominant 41

Preferred Label : Deafness, Autosomal Dominant 41;

NCIt synonyms : DFNA41;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the P2RX2 gene, encoding P2X purinoceptor 2. It is characterized by progressive sensorineural hearing loss, usually in the second decade of life.;

Details

Origin ID

C175700;

UMLS CUI

C1842371;

Currated CISMeF NLP mapping
- Deafness, autosomal dominant 41 [OMIM Phenotype]
- autosomal dominant nonsyndromic deafness 41 [DO Concept]
- deafness, autosomal dominant 41 [MeSH Supplementary Concept]
- deafness, autosomal dominant 41 [MeSH concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal dominant 41 [OMIM Phenotype]
- deafness, autosomal dominant 41 [MeSH Supplementary Concept]
- deafness, autosomal dominant 41 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- P2RX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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