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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Friedreich Ataxia
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Friedreich Ataxia
UMLS_CUI
  • C0016719
FULL_SYN
  • Friedreich AtaxiaPTNCI
  • Friedreich's AtaxiaSYNCI
DEFINITION
  • An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.NCI
code
  • C84718
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