FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Carvajal syndrome ID (Ontology) DOID:0090128 (Human Disease)
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.
Also Known As "DCWHK" ; "dilated cardiomyopathy with woolly hair and keratoderma" ; "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"
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 Genes
 Carvajal syndrome       1
 for disease ribbon | Carvajal syndrome       1
 model of | Carvajal syndrome       1
Spanning Tree (Parents/Children)
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  nonepidermolytic palmoplantar keratoderma
   |__Naxos disease
       |__Carvajal syndrome  1 rec.
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Synonyms
  • "DCWHK" EXACT OMO:0003012
    "dilated cardiomyopathy with woolly hair and keratoderma" EXACT
    "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT
Secondary IDs
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GARD:5595
MESH:C535581
MIM:605676
ORDO:65282