Carvajal syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dsp

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011581 - arrhythmogenic cardiomyopathy with wooly hair and keratoderma

MONDO:0011581 - arrhythmogenic cardiomyopathy with wooly hair and keratoderma

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

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

Parent(s): autosomal recessive disease (is_a), Naxos disease (is_a)