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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 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, 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 17445
    disease by infectious agent 1934
      osteomyelitis 13
        Deficiency of Interleukin-1 Receptor Antagonist 2
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        connective tissue disease 4452
          bone disease 3125
            Infectious Bone Diseases 51
              osteomyelitis 13
                Deficiency of Interleukin-1 Receptor Antagonist 2
paths to the root