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GENE - TERM ANNOTATION REPORT

RGD ID: 1308314
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nlrp3
Name: NLR family, pyrin domain containing 3
Acc ID: DOID:0090061
Term: familial cold autoinflammatory syndrome
Definition: A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome "DO" "DO", https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/ "DO" "DO", https://www.nomidalliance.org/fcas.php "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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