Deafness due to Connexin 26 Gene Anomaly

Preferred Label : Deafness due to Connexin 26 Gene Anomaly;

NCIt definition : Congenital deafness caused by mutations in the gene GJB2 (deafness gene).;

Details

Origin ID

C84650;

UMLS CUI

C5557435;

Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GJB2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients