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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 chr14:52,642,008...52,846,243 JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:5,781,486...5,852,872
Ensembl chr14:5,781,479...5,855,942 		JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar
G MYNN myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr15:19,611,809...19,626,413
Ensembl chr15:19,612,703...19,625,905 		JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chr18:34,842,905...34,937,049
Ensembl chr18:34,882,194...34,933,693 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:25741868 PMID:28492532 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:397,663...487,145
Ensembl chr 2:398,268...483,923 		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 chr14:16,087,676...16,097,214
Ensembl chr14:16,093,289...16,095,927 		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 chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		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 chr14:16,079,045...16,085,245
Ensembl chr14:16,079,906...16,083,167 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854 		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 chr14:5,781,486...5,852,872
Ensembl chr14:5,781,479...5,855,942 		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 chr18:62,110,324...62,171,066
Ensembl chr18:62,110,616...62,170,384 		JBrowse link
G LOC103222703 myosin regulatory light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:62,496,372...62,504,835
Ensembl chr18:62,501,879...62,505,937 		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 chr18:62,152,837...62,265,992
Ensembl chr18:62,177,246...62,236,593 		JBrowse link
G MYL12B myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:62,510,012...62,527,027
Ensembl chr18:62,521,295...62,529,131 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:62,321,086...62,474,955
Ensembl chr18:62,320,793...62,465,485 		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 chr18:61,921,477...62,069,187
Ensembl chr18:61,921,124...62,070,878 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:62,691,705...62,698,265 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease by infectious agent 2092
      Bacterial Infections and Mycoses 1023
        fungal infectious disease 145
          osteomyelitis 22
            chronic recurrent multifocal osteomyelitis 18
              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 15388
    disease of anatomical entity 15074
      musculoskeletal system disease 7877
        connective tissue disease 5411
          bone disease 3922
            bone inflammation disease 1333
              osteomyelitis 22
                chronic recurrent multifocal osteomyelitis 18
                  Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 4
                  Chronic recurrent multifocal osteomyelitis 3 1
                  Majeed Syndrome 7
paths to the root