Aicardi-Goutieres syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018866 - Aicardi-Goutieres syndrome

MONDO:0018866 - Aicardi-Goutieres syndrome

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)