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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)



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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 term: MCM4-related condition | ClinVar Annotator: match by term: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:16532402 PMID:17576681 PMID:22354167 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 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        NK cell deficiency 1
          immunodeficiency 54 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
            NK cell deficiency 1
              immunodeficiency 54 1
paths to the root