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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: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21524210 PMID:25741868 PMID:28492532 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        dendritic cell deficiency 1
          immunodeficiency 32A 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Immune & Inflammatory Diseases 5560
        immune system disease 4768
          primary immunodeficiency disease 4141
            dendritic cell deficiency 1
              immunodeficiency 32A 1
paths to the root