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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)
For additional species annotation, visit the Alliance of Genome Resources.



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 OMIM
ClinVar
PMID:21524210 PMID:25741868 PMID:28492532 NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        dendritic cell deficiency 1
          immunodeficiency 32A 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          primary immunodeficiency disease 3831
            dendritic cell deficiency 1
              immunodeficiency 32A 1
paths to the root