About: Metachromatic Leukodystrophy     Goto   Sponge   Distinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • Metachromatic Leukodystrophy
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Metachromatic Leukodystrophy
UMLS_CUI
  • C0023522
Legacy_Concept_Name
  • Metachromatic_Leukodystrophy
FULL_SYN
  • Metachromatic LeukodystrophyPTNCI
DEFINITION
  • An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.NCI
code
  • C61251
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