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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency due to Defect in CD3-Epsilon
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Accession:DOID:9000182 term browser browse the term
Synonyms:exact_synonym: CD3-EPSILON DEFICIENCY;   IMD18;   IMMUNODEFICIENCY 18;   IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
 narrow_synonym: CD3-EPSILON DEFICIENCY IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT;   IMMUNODEFICIENCY 18, SCID VARIANT
 primary_id: MESH:C566082;   OMIM:615615;   RDO:0014544
 alt_id: RDO:9001014
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Immunodeficiency due to Defect in CD3-Epsilon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd3e CD3e molecule JBrowse link 8 49,297,604 49,309,370 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      primary immunodeficiency disease 978
        Immunodeficiency due to Defect in CD3-Epsilon 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Immune & Inflammatory Diseases 3120
        immune system disease 2541
          primary immunodeficiency disease 978
            Immunodeficiency due to Defect in CD3-Epsilon 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.