Search Ontology:
Human Disease
leukoencephalopathy with vanishing white matter 1
- Term ID
- DOID:0070374
- Synonyms
-
- Definition
- A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. (2)
- References
- Ontology
- Human Disease ( DOID:0070374 )
- is a type of
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