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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:0011968 | Feeding difficulties |
| HP:0002240 | Hepatomegaly |
| HP:0003593 | Infantile onset |
| HP:0001878 | Hemolytic anemia |
| HP:0011344 | Severe global developmental delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002063 | Rigidity |
| HP:0003623 | Neonatal onset |
| HP:0011463 | Childhood onset |
| HP:0001511 | Intrauterine growth retardation |
