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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:0012229 | CSF pleocytosis |
| HP:0001873 | Thrombocytopenia |
| HP:0001371 | Flexion contracture |
| HP:0002135 | Basal ganglia calcification |
| HP:0002352 | Leukoencephalopathy |
| HP:0003040 | Arthropathy |
| HP:0003577 | Congenital onset |
| HP:0007229 | Intracerebral periventricular calcifications |
| HP:0007321 | Deep white matter hypodensities |
| HP:0008872 | Feeding difficulties in infancy |
