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Summary Literature (0)
DOID:0050629 - Aicardi-Goutieres syndrome

Disease Ontology Definition:An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.

Synonyms: Cree encephalitis

Echinobase Genes : rnaseh2b, rnaseh2a, rnaseh2c

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

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

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