About: Lafora Disease     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Lafora Disease
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Lafora Disease
UMLS_CUI
  • C0751783
FULL_SYN
  • Lafora DiseasePTNCI
DEFINITION
  • A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.NCI
code
  • C84804
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