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sterile multifocal osteomyelitis with periostitis and pustulosis

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.
Uniprot Description A rare autoinflammatory disease of skin and bone resulting in sterile multifocal osteomyelitis, periostitis, and pustulosis from birth. The term autoinflammatory disease describes a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T-cells.
Mondo Term and Equivalent IDs
MONDO:0013021:  sterile multifocal osteomyelitis with periostitis and pustulosis
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found