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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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Path 1
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  disease 15619
    syndrome 5154
      primary immunodeficiency disease 957
        lymphoproliferative syndrome 605
          lymphoproliferative syndrome 2 1
Path 2
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  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                lymphoproliferative syndrome 2 1
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