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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:0000819 | Diabetes mellitus |
| HP:0000821 | Hypothyroidism |
| HP:0000958 | Dry skin |
| HP:0000965 | Cutis marmorata |
| HP:0001063 | Acrocyanosis |
| HP:0001087 | Developmental glaucoma |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
