Search Ontology:
Human Disease
Aicardi-Goutieres syndrome
- Term ID
- DOID:0050629
- Synonyms
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- 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. (3)
- References
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- GARD:575
- ICD10CM:G31.8
- MIM:225750
- MIM:610181
- MIM:610329
- MIM:610333
- MIM:612952
- MIM:615010
- MIM:615846
- MIM:PS225750
- ORDO:51
- Ontology
- Human Disease ( DOID:0050629 )
- is a type of
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Genes Involved
Zebrafish Models