Aicardi-Goutieres syndrome
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
Aicardi-Goutieres syndrome
- Cree encephalitis
DO_rare_slim
Xref MGI. OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:0050629