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Summary Literature (0)
DOID:0090128 - Carvajal syndrome

Disease Ontology Definition:A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.

Synonyms: Carvajal syndrome, DCWHK, dilated cardiomyopathy with woolly hair and keratoderma, palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair,

Xenbase Genes : dsp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011581 - arrhythmogenic cardiomyopathy with wooly hair and keratoderma


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Naxos disease (is_a), autosomal recessive disease (is_a)