Rnaset2-Deficient Cystic Leukoencephalopathy
Disease ID: disease_node_19918
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| Dbxref | GARD:13199, MIM:612951, ORDO:85136 |
|---|---|
| Subclassof | DOID_0050737, DOID_10579 |
| Data Source | DOID |
| Synonyms | cystic leukoencephalopathy without megalencephaly, infantile-onset RNASET2 deficient cystic leukoencephalopathy |
| Doid Label | RNASET2-deficient cystic leukoencephalopathy |
| Doid Description | A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19918 |
| Doid Id | DOID_0081007 |
| Label | Rnaset2-Deficient Cystic Leukoencephalopathy |
- 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)