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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked lymphoproliferative syndrome 1
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Accession:DOID:0060705 term browser browse the term
Definition:A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO)
Synonyms:exact_synonym: XLP1
 primary_id: RDO:9004111
 xref: GARD:7906
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X-linked lymphoproliferative syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh2d1a SH2 domain containing 1A JBrowse link X 128,897,053 128,925,408 RGD:8554872
RGD:13592920
G Xiap X-linked inhibitor of apoptosis JBrowse link X 128,409,425 128,455,786 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      primary immunodeficiency disease 998
        lymphoproliferative syndrome 651
          X-linked lymphoproliferative syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            X-linked monogenic disease 854
              X-linked recessive disease 212
                X-linked lymphoproliferative syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.