Naxos Disease

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - KWWH Type I - Keratoderma with Woolly Hair Type I - NXD