Progressive Leukoencephalopathy With Ovarian Failure
Disease ID: disease_node_19922
Connections displayed (default: 10).
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| Dbxref | MIM:615889 |
|---|---|
| Subclassof | DOID_0050737, DOID_10579 |
| Data Source | DOID |
| Synonyms | ovarioleukodystrophy |
| Doid Label | progressive leukoencephalopathy with ovarian failure |
| Doid Description | An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19922 |
| Doid Id | DOID_0070396 |
| Label | Progressive Leukoencephalopathy With Ovarian Failure |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Leukodystrophy(ID:disease_node_19911) (Disease)