Leukoencephalopathy With Vanishing White Matter
Disease ID: disease_node_19949
Connections displayed (default: 10).
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| Dbxref | GARD:231, ICD10CM:E75.2, MIM:PS603896, ORDO:135, ORDO:157713, ORDO:157716, ORDO:157719 |
|---|---|
| Subclassof | DOID_0050737, DOID_10579 |
| Data Source | DOID |
| Synonyms | CACH, CACH/VWM, childhood ataxia with central nervous system hypomyelination, vanishing white matter leukodystrophy, ovarioleukodystrophy |
| Doid Label | leukoencephalopathy with vanishing white matter |
| Doid Description | A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19949 |
| Doid Id | DOID_0060868 |
| Label | Leukoencephalopathy With Vanishing White Matter |
- Incoming r'ship
SUBCLASS_OFto/from Leukoencephalopathy With Vanishing White Matter 4(ID:disease_node_19953) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Leukodystrophy(ID:disease_node_19911) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Leukoencephalopathy With Vanishing White Matter 2(ID:disease_node_19951) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Leukoencephalopathy With Vanishing White Matter 5(ID:disease_node_19954) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Leukoencephalopathy With Vanishing White Matter 3(ID:disease_node_19952) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Leukoencephalopathy With Vanishing White Matter 1(ID:disease_node_19950) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)