OBO ID: DOID:0080551
Term Name: Naxos disease Search Ontology:
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. (3)
References:
Ontology: Human Disease   (DOID:0080551)
OTHER Naxos disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
JUP Naxos disease 601214
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None