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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 2, with periostitis and pustulosis
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Accession:DOID:9007151 term browser browse the term
Synonyms:exact_synonym: CRMO2;   DIRA;   Deficiency of Interleukin-1 Receptor Antagonist;   Deficiency of interleukin-1 receptor antagonist (DIRA);   OMPP;   deficiency of interleukin(IL)-1 receptor antagonist;   interleukin 1 receptor antagonist deficiency;   sterile multifocal osteomyelitis, with periostitis and pustulosis
 xref: GARD:10516;   MESH:C557815;   MIM:612852;   MONDO:0013021;   ORDO:210115


show annotations for term's descendants           Sort by:
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 chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439 		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 chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		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 chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Pathologic Processes 8259
        Inflammation 2834
          periostitis 4
            Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 4
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      musculoskeletal system disease 8492
        connective tissue disease 5959
          bone disease 4413
            Infectious Bone Diseases 64
              osteomyelitis 23
                chronic recurrent multifocal osteomyelitis 18
                  Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 4
paths to the root