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Summary Literature (0)
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: Cree encephalitis

Xenbase Genes : adar, rnaseh2a, samhd1, rnaseh2b, ifih1, rnaseh2c

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018866 - Aicardi-Goutieres syndrome

OMIM:
OMIM:225750 - AICARDI-GOUTIERES SYNDROME 1; AGS1
OMIM:610181 - AICARDI-GOUTIERES SYNDROME 2; AGS2
OMIM:610329 - AICARDI-GOUTIERES SYNDROME 3; AGS3
OMIM:610333 - AICARDI-GOUTIERES SYNDROME 4; AGS4
OMIM:612952 - AICARDI-GOUTIERES SYNDROME 5; AGS5
OMIM:615010 - AICARDI-GOUTIERES SYNDROME 6; AGS6
OMIM:615846 - AICARDI-GOUTIERES SYNDROME 7; AGS7

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal genetic disease (is_a), autosomal recessive disease (is_a), syndrome (is_a)