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

AttributesValues
type
subClassOf
label
  • Naxos disease (en)
described by
id
  • DOID:0080551
database_cross_reference
  • GARD:9795
  • OMIM:601214
  • ORDO:34217
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
is subClassOf of
is topic of
is annotatedSource of
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