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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:NK cell deficiency
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Accession:DOID:0080709 term browser browse the term
Definition:A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood. (DO)
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
immunodeficiency 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by OMIM:609981
ClinVar Annotator: match by term: Natural killer cell and glucocorticoid deficiency with DNA repair defect
OMIM
ClinVar
PMID:16532402 PMID:22354167 PMID:22354170 PMID:22499342 PMID:24033266 More... NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      primary immunodeficiency disease 2705
        NK cell deficiency 1
          immunodeficiency 54 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 0
      Immune & Inflammatory Diseases 4007
        immune system disease 3368
          primary immunodeficiency disease 2705
            NK cell deficiency 1
              immunodeficiency 54 1
paths to the root