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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:recombinase activating gene 1 deficiency
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Accession:DOID:0060011 term browser browse the term
Definition:A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)
Synonyms:primary_id: RDO:9002905


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    syndrome 10342
      primary immunodeficiency disease 3863
        combined immunodeficiency 900
          severe combined immunodeficiency 484
            recombinase activating gene 1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      Immune & Inflammatory Diseases 5179
        immune system disease 4471
          primary immunodeficiency disease 3863
            combined immunodeficiency 900
              severe combined immunodeficiency 484
                recombinase activating gene 1 deficiency 1
paths to the root