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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:dendritic cell deficiency
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Accession:DOID:0111963 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. (DO)


show annotations for term's descendants           Sort by:
immunodeficiency 32A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21524210 PMID:25741868 PMID:28492532 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:65,699,284...65,721,062 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      primary immunodeficiency disease 4482
        dendritic cell deficiency 1
          immunodeficiency 32A 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Immune & Inflammatory Diseases 5763
        immune system disease 5076
          primary immunodeficiency disease 4482
            dendritic cell deficiency 1
              immunodeficiency 32A 1
paths to the root