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;

Currated CISMeF NLP mapping
- Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) [SNOMED CT concept]
- Naxos disease [MeSH concept]
- Naxos disease [OMIM Phenotype]
- Naxos disease [ICD-11 More detail]
- Naxos disease [ORDO Disease]
- Naxos disease [DO Concept]
- Naxos disease [Disease (Nov.)]
- naxos disease [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
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- JUP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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