familial cold autoinflammatory syndrome 2
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.
MONDO:0018768
familial cold autoinflammatory syndrome
is_a
FCAS2
exact
NALP12-associated hereditary periodic fever syndrome
exact
NAPS12
exact
NLRP12 familial cold autoinflammatory syndrome
exact
NLRP12-associated hereditary periodic fever syndrome
exact
familial cold autoinflammatory syndrome 2
exact
familial cold autoinflammatory syndrome caused by mutation in NLRP12
exact
familial cold autoinflammatory syndrome type 2
exact