| Metadata | |
|---|---|
| ID | DOID:0070374 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070374 Copy |
| Name | leukoencephalopathy with vanishing white matter 1 |
| Definition | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/34745209/, https://www.omim.org/entry/603896 |
| Xrefs | |
| SKOS |
exactMatch MIM:603896 |
| Parent Relationships |