Familial cold autoinflammatory syndrome 2

MONDO:0012724

An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.

Also known as: FCAS2, NALP12-associated hereditary periodic fever syndrome, NAPS12, NLRP12 familial cold autoinflammatory syndrome, NLRP12-associated hereditary periodic fever syndrome, familial cold autoinflammatory syndrome 2, familial cold autoinflammatory syndrome caused by mutation in NLRP12, familial cold autoinflammatory syndrome type 2

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