sterile multifocal osteomyelitis with periostitis and pustulosis
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.
MONDO:0009813
chronic recurrent multifocal osteomyelitis
is_a
DIRA
exact
Interleukin-1 receptor antagonist deficiency
exact
OMPP
exact
autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
exact
deficiency of interleukin-1 receptor antagonist
related
deficiency of the Interleukin-1 receptor antagonist
exact
osteomyelitis, STERILE multifocal, with periostitis and pustulosis
related