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Aicardi-Goutieres Syndrome (MONDO:0018866)

Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

Overview

Category

syndromic disease

connective tissue disorder

immune system disorder

nervous system disorder

Ontology ID

MONDO:0018866

Internal:18799

Synonyms

Aicardi Goutieres syndrome

Aicardi-Goutières Syndrome

Cree encephalitis

encephalopathy with basal ganglia calcification

encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

AGS

Aicardi-Goutières syndrome

encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis

pseudotoxoplasmosis syndrome

Mapped terms

DOID:0050629

GARD:0000575

ICD9:333.0

MEDGEN:97953

MESH:C535607

NANDO:1200996

NANDO:2100244

NANDO:2200893

NORD:111728

OMIMPS:225750

Orphanet:51

SCTID:230312006

UMLS:C0393591

Child terms

Results

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