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
Accession: DOID:0060645
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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Acyp2
acylphosphatase 2
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386
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Il1r1
interleukin 1 receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Mlkl
mixed lineage kinase domain like pseudokinase
ISO
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
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Mynn
myoneurin
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
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Pstpip2
proline-serine-threonine phosphatase-interacting protein 2
ISS
OMIM:259680
MouseDO
NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:25741868 PMID:28492532
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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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 PMID:28492532 More...
NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439
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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 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:23698098 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 PMID:32819369 More...
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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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 PMID:28492532 More...
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Il1r1
interleukin 1 receptor type 1
ISO
ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3
OMIM ClinVar
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Emilin2
elastin microfibril interfacer 2
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
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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 PMID:16199547 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26386126 PMID:27860302 PMID:28492532 PMID:28600779 PMID:29387759 PMID:31598604 PMID:31727123 PMID:33314777 PMID:33670882 More...
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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Myl12a
myosin light chain 12A
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
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Myl12b
myosin light chain 12B
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,873,855...110,888,187
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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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 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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Tgif1
TGFB-induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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