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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 19142
    syndrome 11377
      primary immunodeficiency disease 4438
        combined immunodeficiency 949
          severe combined immunodeficiency 529
            CD3zeta deficiency 0
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      Immune & Inflammatory Diseases 5753
        immune system disease 5035
          primary immunodeficiency disease 4438
            combined immunodeficiency 949
              severe combined immunodeficiency 529
                CD3zeta deficiency 0
paths to the root