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Naxos disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
Uniprot Description An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia.
Mondo Term and Equivalent IDs
MONDO:0011017:  Naxos disease
DOID:0080551: 
GARD:0009795: 
MESH:C538346: 
Orphanet:34217: 
SCTID:715535009: 
UMLS:C1832600: