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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:chronic recurrent multifocal osteomyelitis
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Accession:DOID:0060645 term browser browse the term
Definition:An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. (DO)
Synonyms:exact_synonym: CMO;   CRMO;   chronic multifocal osteomyelitis;   chronic osteomyelitis
 xref: GARD:6108;   ICD10CM:M86.3;   MESH:C535456;   MIM:PS609628;   MONDO:0009813;   ORDO:324964


show annotations for term's descendants           Sort by:
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2, muscle type ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr11:30,455,991...30,599,778
Ensembl chr11:30,455,991...30,599,587 		JBrowse link
G Il1r1 interleukin 1 receptor, type I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417 		JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 NCBI chr13:73,770,663...73,775,510 JBrowse link
G Mlkl mixed lineage kinase domain-like ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr 8:112,037,879...112,065,081
Ensembl chr 8:112,038,429...112,064,809 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:30,656,212...30,674,022
Ensembl chr 3:30,656,214...30,674,022 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 IAGP OMIM:259680 MouseDO NCBI chr18:77,882,250...77,971,462
Ensembl chr18:77,877,614...77,970,579 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:25741868 PMID:28492532 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219 		JBrowse link
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family, member 10 ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 2:24,177,095...24,184,236
Ensembl chr 2:24,181,208...24,183,832 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis OMIM
ClinVar		 PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 2:24,166,966...24,172,444
Ensembl chr 2:24,166,966...24,173,438 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
Chronic recurrent multifocal osteomyelitis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor, type I ISO ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3 OMIM
ClinVar		 NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812 		JBrowse link
G Myl12a myosin, light chain 12A, regulatory, non-sarcomeric ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873 		JBrowse link
G Myl12b myosin, light chain 12B, regulatory ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    disease by infectious agent 2238
      Bacterial Infections and Mycoses 1087
        fungal infectious disease 167
          osteomyelitis 24
            chronic recurrent multifocal osteomyelitis 19
              Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 4
              Chronic recurrent multifocal osteomyelitis 3 1
              Majeed Syndrome 7
Path 2
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      musculoskeletal system disease 8154
        connective tissue disease 5596
          bone disease 4042
            bone inflammation disease 1392
              osteomyelitis 24
                chronic recurrent multifocal osteomyelitis 19
                  Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 4
                  Chronic recurrent multifocal osteomyelitis 3 1
                  Majeed Syndrome 7
paths to the root