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Carvajal syndrome
Summary
- Synonym
-
- 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.
- Super Class
- Naxos disease
External Links
- Disease Ontology
- DOID:0090128
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
