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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_004624833:7,603,041...7,685,340
Ensembl chrNW_004624833:7,602,724...7,684,508 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624749:6,661,142...6,737,988
Ensembl chrNW_004624749:6,708,522...6,739,871 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chrNW_004624746:12,193,699...12,213,475 JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004624730:47,823,818...47,835,298
Ensembl chrNW_004624730:47,822,991...47,833,988 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chrNW_004624778:9,629,841...9,761,005
Ensembl chrNW_004624778:9,628,340...9,760,963 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:25741868 PMID:28492532 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004624741:29,397,900...29,443,605
Ensembl chrNW_004624741:29,398,784...29,463,641 		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_004624749:13,150,717...13,153,907
Ensembl chrNW_004624749:13,150,989...13,153,497 		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_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		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_004624749:13,137,512...13,145,578
Ensembl chrNW_004624749:13,137,782...13,143,031 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		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_004624749:6,661,142...6,737,988
Ensembl chrNW_004624749:6,708,522...6,739,871 		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_004624770:13,133,319...13,156,420 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_004624770:13,158,111...13,200,818
Ensembl chrNW_004624770:13,159,903...13,203,643 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004624770:13,378,668...13,408,633
Ensembl chrNW_004624770:13,393,106...13,409,139
Ensembl chrNW_004624770:13,393,106...13,409,139 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		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_004624770:13,000,532...13,123,346
Ensembl chrNW_004624770:13,000,316...13,124,031 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004624770:13,506,501...13,515,388
Ensembl chrNW_004624770:13,508,409...13,516,457 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease by infectious agent 1935
      Bacterial Infections and Mycoses 960
        fungal infectious disease 142
          osteomyelitis 22
            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 14208
    disease of anatomical entity 13924
      musculoskeletal system disease 7406
        connective tissue disease 5075
          bone disease 3726
            bone inflammation disease 1276
              osteomyelitis 22
                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