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Human Disease

Aicardi-Goutieres syndrome

Term ID
DOID:0050629
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0050629 )
Relationships
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Genes Involved
Zebrafish Models