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Disease Ontology Browser
interleukin-1 receptor antagonist deficiency (DOID:0061225)
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Synonyms: Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency; chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis; immunoglobulin heavy chain deletion; Sterile multifocal osteomyelitis with periostitis and pustulosis
Alt IDs: OMIM:612852, ORDO:210115
Definition: An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/30/2025
MGI 6.24 		The Jackson Laboratory