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GENE - TERM ANNOTATION REPORT

RGD ID: 12064306
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SAMHD1
Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Acc ID: DOID:0050629
Term: 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. (DO)
Definition Source(s): http://omim.org/entry/225750 "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1475/ "DO" "DO", https://agsaa.org/about-ags "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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