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Aicardi-Goutieres syndrome
Summary
- Synonym
-
- AGS
- Cree encephalitis
- Definition
- 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.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:0050629
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009704 | Chronic CSF lymphocytosis |
| HP:0009709 | Increased CSF interferon alpha |
| HP:0009710 | Chilblains |
| HP:0011834 | Moyamoya phenomenon |
| HP:0012444 | Brain atrophy |
| HP:0012490 | Panniculitis |
| HP:0100578 | Lipoatrophy |
| HP:0100614 | Myositis |
| HP:0002505 | Loss of ambulation |
| HP:0001744 | Splenomegaly |
