Terminology Service for NFDI4Health

Aicardi-Goutieres syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050629


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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007646 ]

Term info

Label

Aicardi-Goutieres syndrome

Synonyms
  • Cree encephalitis
database cross reference
Subsets

DO_rare_slim

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050629