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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:CD3delta deficiency
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Accession:DOID:0060016 term browser browse the term
Definition:A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. (DO)
Synonyms:exact_synonym: CD3D


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      primary immunodeficiency disease 4308
        combined immunodeficiency 943
          severe combined immunodeficiency 527
            CD3delta deficiency 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5753
        immune system disease 4937
          primary immunodeficiency disease 4308
            combined immunodeficiency 943
              severe combined immunodeficiency 527
                CD3delta deficiency 0
paths to the root