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Repository for lectin-assisted multimodality data
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MIRAGE
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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55265 | Double-stranded RNA-specific adenosine deaminase | |
| Q9Y3Z3 | Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99MU3 | Double-stranded RNA-specific adenosine deaminase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002415 | Leukodystrophy |
| HP:0002510 | Spastic tetraplegia |
| HP:0002514 | Cerebral calcification |
| HP:0002650 | Scoliosis |
| HP:0002828 | Multiple joint contractures |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0002960 | Autoimmunity |
| HP:0003552 | Muscle stiffness |
| HP:0004322 | Short stature |
| HP:0004374 | Hemiplegia/hemiparesis |
