Naxos Disease - CISMeF

Preferred Label : Naxos Disease;

NCIt synonyms : Keratoderma with Woolly Hair Type I; KWWH Type I; NXD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the JUP gene, encoding junction plakoglobin. It is characterized by ectodermal abnormalities and right ventricular arrhythmogenic cardiomyopathy.;

Details

Origin ID

C206112;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- JUP 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