Summary Literature (0)

DOID:0090128 - dilated cardiomyopathy with woolly hair and keratoderma

Disease Ontology Definition:An autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the DSP gene on chromosome 6p24.

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

Echinobase Genes :


OMIM:

MIM:605676 - cardiomyopathy, dilated, with woolly hair and keratoderma; dcwhk

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee