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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:interleukin-7 receptor alpha deficiency
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Accession:DOID:0060015 term browser browse the term
Definition:A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. (DO)
Synonyms:exact_synonym: IL-7R
 primary_id: RDO:9002909


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      primary immunodeficiency disease 4153
        combined immunodeficiency 897
          severe combined immunodeficiency 487
            interleukin-7 receptor alpha deficiency 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Immune & Inflammatory Diseases 5573
        immune system disease 4780
          primary immunodeficiency disease 4153
            combined immunodeficiency 897
              severe combined immunodeficiency 487
                interleukin-7 receptor alpha deficiency 0
paths to the root