About: Leukodystrophy     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Leukodystrophy
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Leukodystrophy
UMLS_CUI
  • C0023520
Legacy_Concept_Name
  • Leukodystrophy
FULL_SYN
  • LeukodystrophyPTNCI
DEFINITION
  • A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease.NCI
code
  • C61253
is rdfs:subClassOf of
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