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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:monocyte, dendritic cell, and NK cell deficiency
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Accession:DOID:0111966 term browser browse the term
Definition:A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. (DO)
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
immunodeficiency 32B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 32B
CTD
OMIM
ClinVar
PMID:6279813 PMID:9536098 PMID:17576681 PMID:21524210 PMID:25122610 More... 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 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        combined immunodeficiency 770
          monocyte, dendritic cell, and NK cell deficiency 1
            immunodeficiency 32B 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Immune & Inflammatory Diseases 5182
        immune system disease 4489
          primary immunodeficiency disease 3832
            combined immunodeficiency 770
              monocyte, dendritic cell, and NK cell deficiency 1
                immunodeficiency 32B 1
paths to the root