Leukoencephalopathy With Vanishing White Matter 5
Disease ID: disease_node_19954
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| Dbxref | MIM:620315, ORDO:99854 |
|---|---|
| Subclassof | DOID_0060868 |
| Data Source | DOID |
| Synonyms | Cree leukoencephalopathy |
| Doid Label | leukoencephalopathy with vanishing white matter 5 |
| Doid Description | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. 'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB]. |
| Disease Node Id | disease_node_19954 |
| Doid Id | DOID_0070367 |
| Label | Leukoencephalopathy With Vanishing White Matter 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Leukoencephalopathy With Vanishing White Matter(ID:disease_node_19949) (Disease)