Online Mendelian Inheritance in Man - CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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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
ID	http://purl.bioontology.org/ontology/OMIM/612852
altLabel	DIRA INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS CRMO2 OMPP
cui	C2748507
Gene Locus	2q14.2
Gene Symbol	MVCD4 IL1RN CRMO2 DIRA
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612852
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS
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]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNOMEDCT/773702002	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MDRGER/10079457	MDRGER	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10079457	MEDDRA	CUI
	http://purl.bioontology.org/ontology/ICD10CM/M04.8	ICD10CM	CUI
	http://purl.bioontology.org/ontology/MESH/C557815	MESH	CUI
	http://purl.bioontology.org/ontology/MDRGER/10072224	MDRGER	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10079457	MDRFRE	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10072224	MDRFRE	CUI
	http://purl.bioontology.org/ontology/SCTSPA/773702002	SCTSPA	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10072224	MEDDRA	CUI