Search Ontology:
Human Disease

Carvajal syndrome

Term ID
DOID:0090128
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. (2)
References
Ontology
Human Disease   ( DOID:0090128 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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