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- NCIT_C122664 IAO_0000115 "A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes, resulting in deterioration of central nervous system's white matter. Usually, there are no signs and symptoms of the disorder at birth. During early childhood, affected individuals develop spasticity and ataxia which may be associated with deterioration of the metal function. Examination of the brain at autopsy reveals normal gray matter while the white matter is soft and gelatinous with numerous small cavities." @default.
- NCIT_C122664 NCIT_NHC0 "C122664" @default.
- NCIT_C122664 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C122664 NCIT_P108 "Leukoencephalopathy with Vanishing White Matter" @default.
- NCIT_C122664 NCIT_P207 "C1858991" @default.
- NCIT_C122664 NCIT_P322 "Cellosaurus" @default.
- NCIT_C122664 NCIT_R100 NCIT_C12219 @default.
- NCIT_C122664 NCIT_R100 NCIT_C12438 @default.
- NCIT_C122664 NCIT_R100 NCIT_C12755 @default.
- NCIT_C122664 NCIT_R100 NCIT_C12919 @default.
- NCIT_C122664 NCIT_R100 NCIT_C13040 @default.
- NCIT_C122664 NCIT_R100 NCIT_C32221 @default.
- NCIT_C122664 NCIT_R101 NCIT_C12219 @default.
- NCIT_C122664 NCIT_R101 NCIT_C12439 @default.
- NCIT_C122664 NCIT_R101 NCIT_C13018 @default.
- NCIT_C122664 NCIT_R101 NCIT_C13040 @default.
- NCIT_C122664 NCIT_R101 NCIT_C32221 @default.
- NCIT_C122664 NCIT_R101 NCIT_C33966 @default.
- NCIT_C122664 normalizedInformationContent "100" @default.
- NCIT_C122664 referenceCount "1" @default.
- NCIT_C122664 hasExactSynonym "Leukoencephalopathy with Vanishing White Matter" @default.
- NCIT_C122664 inSubset NCIT_C165258 @default.
- NCIT_C122664 inSubset NCIT_C192842 @default.
- NCIT_C122664 type Class @default.
- NCIT_C122664 isDefinedBy ncit.owl @default.
- NCIT_C122664 label "Leukoencephalopathy with Vanishing White Matter" @default.
- NCIT_C122664 subClassOf NCIT_C122664 @default.
- NCIT_C122664 subClassOf NCIT_C26726 @default.
- NCIT_C122664 subClassOf NCIT_C26835 @default.
- NCIT_C122664 subClassOf NCIT_C27059 @default.
- NCIT_C122664 subClassOf NCIT_C27551 @default.
- NCIT_C122664 subClassOf NCIT_C27582 @default.
- NCIT_C122664 subClassOf NCIT_C27583 @default.
- NCIT_C122664 subClassOf NCIT_C27586 @default.
- NCIT_C122664 subClassOf NCIT_C27588 @default.
- NCIT_C122664 subClassOf NCIT_C27590 @default.
- NCIT_C122664 subClassOf NCIT_C2934 @default.
- NCIT_C122664 subClassOf NCIT_C2991 @default.
- NCIT_C122664 subClassOf NCIT_C53529 @default.
- NCIT_C122664 subClassOf NCIT_C53531 @default.
- NCIT_C122664 subClassOf NCIT_C53547 @default.
- NCIT_C122664 subClassOf NCIT_C7057 @default.
- NCIT_C122664 subClassOf NCIT_C93210 @default.