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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:CD3zeta deficiency
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Accession:DOID:0060007 term browser browse the term
Definition:A severe combined immunodeficiency that affects the development and function of T cells. (DO)


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        combined immunodeficiency 896
          severe combined immunodeficiency 486
            CD3zeta deficiency 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5573
        immune system disease 4781
          primary immunodeficiency disease 4151
            combined immunodeficiency 896
              severe combined immunodeficiency 486
                CD3zeta deficiency 0
paths to the root