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DO Term : leukoencephalopathy with vanishing white matter [DOID:0060868] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.
  • synonyms:
  • GARD:231,
  • ICD10CM:E75.2,
  • vanishing white matter leukodystrophy,
  • ORDO:135,
  • ORDO:157716,
  • childhood ataxia with central nervous system hypomyelination,
  • ORDO:157713,
  • OMIM:PS603896,
  • PS603896,
  • CACH,
  • CACH/VWM,
  • ovarioleukodystrophy,
  • ORDO:157719
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