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DOID:0050629 - Aicardi-Goutieres syndrome
Disease Ontology 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.
Synonyms: AGS, Cree encephalitis,
Xenbase Genes : adar, rnaseh2a, samhd1, rnaseh2b, ifih1, rnaseh2c
MONDO:0018866 - Aicardi-Goutieres syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee