Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/612852
http://purl.bioontology.org/ontology/OMIM/612852
Preferred Name

CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS
Synonyms
DIRA
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
CRMO2
OMPP
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DIRA
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
CRMO2
OMPP
prefLabel
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS
Gene Symbol
MVCD4
IL1RN
CRMO2
DIRA
Scope Statement
Caused by mutation in the interleukin-1 receptor antagonist gene (IL1RN, 147679.0002) [MOLECULAR BASIS]
Fatal multiorgan failure due to severe inflammatory response in some patients [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU033982
http://purl.bioontology.org/ontology/OMIM/MTHU033987
http://purl.bioontology.org/ontology/OMIM/MTHU003000
http://purl.bioontology.org/ontology/OMIM/MTHU008854
http://purl.bioontology.org/ontology/OMIM/MTHU033989
http://purl.bioontology.org/ontology/OMIM/MTHU001649
http://purl.bioontology.org/ontology/OMIM/MTHU001049
http://purl.bioontology.org/ontology/OMIM/MTHU068933
http://purl.bioontology.org/ontology/OMIM/MTHU012852
http://purl.bioontology.org/ontology/OMIM/MTHU002712
http://purl.bioontology.org/ontology/OMIM/MTHU033983
http://purl.bioontology.org/ontology/OMIM/MTHU068934
http://purl.bioontology.org/ontology/OMIM/MTHU014378
http://purl.bioontology.org/ontology/OMIM/MTHU033981
http://purl.bioontology.org/ontology/OMIM/MTHU068932
http://purl.bioontology.org/ontology/OMIM/MTHU007623
http://purl.bioontology.org/ontology/OMIM/MTHU033992
http://purl.bioontology.org/ontology/OMIM/MTHU033990
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU033988
http://purl.bioontology.org/ontology/OMIM/MTHU033984
http://purl.bioontology.org/ontology/OMIM/MTHU009786
http://purl.bioontology.org/ontology/OMIM/MTHU033991
http://purl.bioontology.org/ontology/OMIM/MTHU033985
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tui
T047
Gene Locus
2q14.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
612852
Semantic type UMLS property
Has inheritance type
cui
C2748507
OMIM Entry Type
3
OMIM MimType Value
pound
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