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ONTOLOGY REPORT - ANNOTATIONS


Term:lymphoproliferative syndrome 2
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Accession:DOID:0060708 term browser browse the term
Definition:A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: CD27 deficiency;   LPFS2
 primary_id: OMIM:615122
 alt_id: RDO:9000525
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lymphoproliferative syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd27 CD27 molecule JBrowse link 4 157,744,881 157,751,609 RGD:7240710
RGD:8554872

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  disease 14924
    syndrome 4713
      primary immunodeficiency disease 926
        lymphoproliferative syndrome 591
          lymphoproliferative syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Immune & Inflammatory Diseases 3007
        immune system disease 2430
          lymphatic system disease 780
            lymphoproliferative syndrome 591
              lymphoproliferative syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.