Aicardi-Goutieres Syndrome
Disease ID: disease_node_17031
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| Dbxref | GARD:575, ICD10CM:G31.8, MIM:225750, MIM:610181, MIM:610329, MIM:610333, MIM:612952, MIM:615010, MIM:615846, MIM:PS225750, ORDO:51 |
|---|---|
| Subclassof | DOID_225, DOID_0050739 |
| Data Source | DOID |
| Synonyms | AGS, Cree encephalitis |
| Doid Label | Aicardi-Goutieres syndrome |
| Doid Description | A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_17031 |
| Doid Id | DOID_0050629 |
| Label | Aicardi-Goutieres Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)