OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS

OMPP

http://purl.bioontology.org/ontology/OMIM/612852

OMPP

INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY

DIRA

C2748507

2q14.2

IL1RN

MVCD4

DIRA

http://purl.bioontology.org/ontology/OMIM/MTHU068933

http://purl.bioontology.org/ontology/OMIM/MTHU003000

http://purl.bioontology.org/ontology/OMIM/MTHU014378

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU033981

http://purl.bioontology.org/ontology/OMIM/MTHU033987

http://purl.bioontology.org/ontology/OMIM/MTHU033985

http://purl.bioontology.org/ontology/OMIM/MTHU008854

http://purl.bioontology.org/ontology/OMIM/MTHU033983

http://purl.bioontology.org/ontology/OMIM/MTHU068934

http://purl.bioontology.org/ontology/OMIM/MTHU068932

http://purl.bioontology.org/ontology/OMIM/MTHU033991

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU012852

http://purl.bioontology.org/ontology/OMIM/MTHU001049

http://purl.bioontology.org/ontology/OMIM/MTHU009786

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU033989

http://purl.bioontology.org/ontology/OMIM/MTHU007623

http://purl.bioontology.org/ontology/OMIM/MTHU033984

http://purl.bioontology.org/ontology/OMIM/MTHU002712

http://purl.bioontology.org/ontology/OMIM/MTHU033990

http://purl.bioontology.org/ontology/OMIM/MTHU033992

http://purl.bioontology.org/ontology/OMIM/MTHU033982

http://purl.bioontology.org/ontology/OMIM/MTHU033988

Phenotype description, molecular basis known.

612852

3

pound

OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS

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]

T047