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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:Deficiency of Interleukin-1 Receptor Antagonist
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Accession:DOID:9007151 term browser browse the term
Synonyms:exact_synonym: DIRA;   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
 primary_id: MESH:C557815
 alt_id: OMIM:612852;   RDO:0009716;   RDO:0009979
For additional species annotation, visit the Alliance of Genome Resources.


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Deficiency of Interleukin-1 Receptor Antagonist 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: 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:22032624 PMID:22127713 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease by infectious agent 1869
      osteomyelitis 13
        Deficiency of Interleukin-1 Receptor Antagonist 2
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        connective tissue disease 4386
          bone disease 3068
            Infectious Bone Diseases 50
              osteomyelitis 13
                Deficiency of Interleukin-1 Receptor Antagonist 2
paths to the root