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Leukoencephalopathy With Vanishing White Matter 1

Disease ID: disease_node_19950

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DbxrefMIM:603896
SubclassofDOID_0060868
Data SourceDOID
Doid Labelleukoencephalopathy with vanishing white matter 1
Doid DescriptionA leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
Disease Node Iddisease_node_19950
Doid IdDOID_0070374
LabelLeukoencephalopathy With Vanishing White Matter 1