leukoencephalopathy with vanishing white matter 1

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Summary

Literature (0)

DOID:0070374 - leukoencephalopathy with vanishing white matter 1

Disease Ontology Definition:A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: eif2b3, eif2b1, eif2b2, eif2b5, eif2b4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): leukoencephalopathy with vanishing white matter (is_a)