OBO ID: DOID:0090128
Term Name: Carvajal syndrome Search Ontology:
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)
OTHER Carvajal syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DSP Cardiomyopathy, dilated, with woolly hair and keratoderma 605676
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None