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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)


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 FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr16:67,237,476...67,239,545 JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949 		JBrowse link
G IRF8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 32B OMIM
ClinVar		 PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 More... NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073 		JBrowse link
G MTHFSD methenyltetrahydrofolate synthetase domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr16:67,201,360...67,225,883
Ensembl chr16:86,533,014...86,557,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      primary immunodeficiency disease 3796
        combined immunodeficiency 895
          monocyte, dendritic cell, and NK cell deficiency 4
            immunodeficiency 32B 4
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Immune & Inflammatory Diseases 5048
        immune system disease 4393
          primary immunodeficiency disease 3796
            combined immunodeficiency 895
              monocyte, dendritic cell, and NK cell deficiency 4
                immunodeficiency 32B 4
paths to the root