1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070367 | leukoencephalopathy with vanishing white matter 5 | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
