| Metadata | |
|---|---|
| ID | DOID:0090128 |
| Name | Carvajal syndrome |
| 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. https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair, https://www.omim.org/entry/605676 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DCWHK [EXACT] dilated cardiomyopathy with woolly hair and keratoderma [EXACT] palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair [EXACT] |
| Parent Relationships |
is_a Naxos disease |