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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

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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 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936491:615,515...770,636
Ensembl chrNW_004936491:615,666...771,199 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936713:808,761...881,070
Ensembl chrNW_004936713:808,659...881,076 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chrNW_004936475:23,591,483...23,618,152
Ensembl chrNW_004936475:23,591,493...23,618,660 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936593:2,629,750...2,645,211
Ensembl chrNW_004936593:2,629,794...2,645,258 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chrNW_004936517:766,246...830,735
Ensembl chrNW_004936517:765,725...830,761 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:25741868 PMID:28492532 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936514:10,987,728...11,027,450
Ensembl chrNW_004936514:10,987,984...11,027,502 		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 chrNW_004936783:1,414,359...1,416,715
Ensembl chrNW_004936783:1,414,359...1,416,715 		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 chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		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 chrNW_004936783:1,396,720...1,404,416
Ensembl chrNW_004936783:1,401,482...1,404,416 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		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 1 ISO ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3 OMIM
ClinVar		 NCBI chrNW_004936713:808,761...881,070
Ensembl chrNW_004936713:808,659...881,076 		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 chrNW_004936672:1,607,914...1,661,531
Ensembl chrNW_004936672:1,609,193...1,661,528 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome OMIM
ClinVar		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chrNW_004936672:1,550,865...1,606,268
Ensembl chrNW_004936672:1,568,732...1,602,931 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,303,510...1,321,969
Ensembl chrNW_004936672:1,300,341...1,322,065 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chrNW_004936672:1,686,070...1,838,315
Ensembl chrNW_004936672:1,685,734...1,838,315 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,128,104...1,135,844
Ensembl chrNW_004936672:1,128,108...1,136,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    disease by infectious agent 2004
      Bacterial Infections and Mycoses 989
        fungal infectious disease 146
          osteomyelitis 21
            chronic recurrent multifocal osteomyelitis 17
              Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 4
              Chronic recurrent multifocal osteomyelitis 3 1
              Majeed Syndrome 6
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      musculoskeletal system disease 7582
        connective tissue disease 5200
          bone disease 3807
            bone inflammation disease 1299
              osteomyelitis 21
                chronic recurrent multifocal osteomyelitis 17
                  Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 4
                  Chronic recurrent multifocal osteomyelitis 3 1
                  Majeed Syndrome 6
paths to the root