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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked severe combined immunodeficiency
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Accession:DOID:0060013 term browser browse the term
Definition:A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)
Synonyms:exact_synonym: IMD4;   Immunodeficiency 4;   SCID-X1;   SCIDX;   SCIDX1;   Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative;   X-SCID;   X-linked SCID;   X-linked severe combined immunodeficiency disease;   XSCID;   gamma chain deficiency;   thymic epithelial hypoplasia
 primary_id: OMIM:300400
 alt_id: RDO:9004187
 xref: NCI:C4682
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        Infant, Newborn, Diseases 411
          severe combined immunodeficiency 51
            X-linked severe combined immunodeficiency 3
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            X-linked monogenic disease 856
              combined T cell and B cell immunodeficiency 65
                severe combined immunodeficiency 51
                  X-linked severe combined immunodeficiency 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.