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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:0004809 | Neonatal alloimmune thrombocytopenia |
| HP:0004942 | Aortic aneurysm |
| HP:0004963 | Calcification of the aorta |
| HP:0005550 | Chronic lymphatic leukemia |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0007052 | Multifocal cerebral white matter abnormalities |
| HP:0007076 | Extrapyramidal muscular rigidity |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0008936 | Axial hypotonia |
