| Metadata | |
|---|---|
| ID | DOID:0070367 |
| Name | leukoencephalopathy with vanishing white matter 5 |
| Definition | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. https://pubmed.ncbi.nlm.nih.gov/12325082/, https://pubmed.ncbi.nlm.nih.gov/34745209/, https://www.omim.org/entry/620315 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Cree leukoencephalopathy [EXACT] |
| Parent Relationships |