Term Name: | Naxos disease |
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Synonyms: | |
Definition: | A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. |
Ontology: | Human Disease [DOID:0080551] ( DOID:0080551 ) |