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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • leukoencephalopathy with vanishing white matter
described by
id
  • DOID:0060868
database_cross_reference
  • GARD:231
  • ICD10CM:E75.2
  • OMIM:603896
  • ORDO:135
has_exact_synonym
  • CACH (en)
  • Cree leukoencephalopathy (en)
  • childhood ataxia with central nervous system hypomyelination (en)
  • vanishing white matter leukodystrophy (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27.
is topic of
is annotatedSource of
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