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: Cree encephalitis, AGS

Echinobase 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

: rnaseh2b, rnaseh2a, rnaseh2c

MIM:

MIM:225750 - aicardi-goutieres syndrome 1; ags1
MIM:610181 - aicardi-goutieres syndrome 2; ags2
MIM:610329 - aicardi-goutieres syndrome 3; ags3
MIM:610333 - aicardi-goutieres syndrome 4; ags4
MIM:612952 - aicardi-goutieres syndrome 5; ags5

MIM:225750 - aicardi-goutieres syndrome 1; ags1

MIM:610181 - aicardi-goutieres syndrome 2; ags2

MIM:610329 - aicardi-goutieres syndrome 3; ags3

MIM:610333 - aicardi-goutieres syndrome 4; ags4

MIM:612952 - aicardi-goutieres syndrome 5; ags5

Other Model Organisms: Alliance, 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)