loading...| Preferred Name | leukoencephalopathy with vanishing white matter 5 | |
| Synonyms |
Cree leukoencephalopathy |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0070367 |
|
| comment |
'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB]. |
|
| database_cross_reference |
MIM:620315 ORDO:99854 |
|
| definition |
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. |
|
| has exact match |
MIM:620315 ORDO:99854 |
|
| has exact synonym |
Cree leukoencephalopathy |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0070367 |
|
| in_subset | ||
| label |
leukoencephalopathy with vanishing white matter 5 |
|
| notation |
DOID:0070367 |
|
| prefLabel |
leukoencephalopathy with vanishing white matter 5 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0070367 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0070367 | DDSS | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0070367 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0070367 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0070367 | DDSS | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0070367 | NIFSTD | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/620315 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0957873 | MONDO | LOOM |