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About: Carvajal syndrome     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Carvajal syndrome
described by
id
  • DOID:0090128
database_cross_reference
  • GARD:5595
  • OMIM:605676
  • ORDO:65282
has_exact_synonym
  • DCWHK (en)
  • dilated cardiomyopathy with woolly hair and keratoderma (en)
  • palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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