| Metadata | |
|---|---|
| ID | DOID:0050629 |
| Name | Aicardi-Goutieres syndrome |
| 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. http://omim.org/entry/225750, http://www.ncbi.nlm.nih.gov/books/NBK1475/, https://agsaa.org/about-ags |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AGS [EXACT] Cree encephalitis [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal inheritance |