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Summary Literature (0)
DOID:0090061 - familial cold autoinflammatory syndrome


Disease Ontology 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.

Synonyms:

Xenbase Genes : plcg2, nlrc4, nlrp3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018768 - familial cold autoinflammatory syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): primary immunodeficiency disease (is_a)