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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:osteomyelitis
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Accession:DOID:1019 term browser browse the term
Definition:INFLAMMATION of the bone as a result of infection. It may be caused by a variety of infectious agents, especially pyogenic (PUS - producing) BACTERIA.
Synonyms:exact_synonym: Osteomyelitides
 primary_id: MESH:D010019
 xref: GARD:7286;   ICD9CM:730.1
For additional species annotation, visit the Alliance of Genome Resources.


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osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) RGD PMID:18312480 RGD:11041747 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr14:114,891,245...115,052,497
Ensembl chr14:114,891,246...115,052,450
JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr19:43,508,416...43,535,050
Ensembl chr19:43,506,976...43,528,851
JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:116,397,154...116,414,702
Ensembl chr 2:116,398,242...116,413,873
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:28492532 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis
ClinVar Annotator: match by term: Interleukin 1 receptor antagonist deficiency
ClinVar
OMIM
PMID:9536098 PMID:12837270 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:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis ClinVar NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
ClinVar Annotator: match by OMIM:609628
OMIM
ClinVar
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:16199547 PMID:16950137 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19369868 PMID:20032092 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25741868 PMID:26386126 PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:22578647 RGD:9491592 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease by infectious agent 1909
      osteomyelitis 13
        Deficiency of Interleukin-1 Receptor Antagonist 2
        Florid Cemento-Osseous Dysplasia 0
        Majeed Syndrome 1
        Pott Puffy Tumor 0
        chronic recurrent multifocal osteomyelitis 5
        mastoiditis 4
        petrositis 0
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      musculoskeletal system disease 6419
        connective tissue disease 4426
          bone disease 3109
            bone inflammation disease 962
              osteomyelitis 13
                Deficiency of Interleukin-1 Receptor Antagonist 2
                Florid Cemento-Osseous Dysplasia 0
                Majeed Syndrome 1
                Pott Puffy Tumor 0
                chronic recurrent multifocal osteomyelitis 5
                mastoiditis 4
                petrositis 0
paths to the root