Term Name: | Carvajal syndrome |
---|---|
Synonyms: | DCWHK, dilated cardiomyopathy with woolly hair and keratoderma, palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair |
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. |
Ontology: | Human Disease [DOID:0090128] ( DOID:0090128 ) |