FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term leukoencephalopathy with vanishing white matter 5 ID (Ontology) DOID:0070367 (Human Disease)
Definition A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.
Also Known As "Cree leukoencephalopathy"
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 leukoencephalopathy with vanishing white matter 5       1
 for disease ribbon | leukoencephalopathy with vanishing white matter 5       1
 model of | leukoencephalopathy with vanishing white matter 5       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
leukodystrophy_______________|
                             leukoencephalopathy with vanishing white matter
                              |__leukoencephalopathy with vanishing white matter 5  1 rec.
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Synonyms
  • "Cree leukoencephalopathy" EXACT
Secondary IDs
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MIM:620315
ORDO:99854