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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 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:86,945,635...87,231,376
Ensembl chr 3:86,945,647...87,109,139 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485 		JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr 6:12,923,846...12,951,176
Ensembl chr 6:12,924,894...12,951,173 		JBrowse link
G MYNN myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr13:108,435,194...108,452,699
Ensembl chr13:108,435,324...108,457,226 		JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chr 1:95,631,456...95,727,827
Ensembl chr 1:95,631,456...95,727,782 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:25741868 PMID:28492532 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,786...62,709,235 		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 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...
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		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 chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485 		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 chr 6:103,730,618...103,786,921
Ensembl chr 6:103,730,626...103,786,927 		JBrowse link
G LOC733637 myosin regulatory light chain 2 protein ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,413,841...103,424,790
Ensembl chr 6:103,409,717...103,420,286 		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 chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297 		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 chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,226,395...103,234,591
Ensembl chr 6:103,226,402...103,234,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    disease by infectious agent 2129
      Bacterial Infections and Mycoses 1042
        fungal infectious disease 155
          osteomyelitis 19
            chronic recurrent multifocal osteomyelitis 15
              Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 2
              Chronic recurrent multifocal osteomyelitis 3 1
              Majeed Syndrome 6
Path 2
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      musculoskeletal system disease 7878
        connective tissue disease 5423
          bone disease 3922
            bone inflammation disease 1338
              osteomyelitis 19
                chronic recurrent multifocal osteomyelitis 15
                  Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 2
                  Chronic recurrent multifocal osteomyelitis 3 1
                  Majeed Syndrome 6
paths to the root