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ONTOLOGY REPORT - ANNOTATIONS


Term:severe combined immunodeficiency
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Accession:DOID:627 term browser browse the term
Definition:Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
Synonyms:exact_synonym: Bare Lymphocyte Syndrome;   Familial Reticuloendothelioses;   Familial Reticuloendotheliosis;   SCID;   Severe Combined Immune Deficiency;   Severe Combined Immunodeficiencies;   Severe Combined Immunodeficiency Syndrome;   bare lymphocyte syndromes;   combined T and B cell inborn immunodeficiency;   severe combined immunodeficiency disease;   severe combined immunologic deficiency
 narrow_synonym: Severe combined immunodeficiency disease, autosomal
 primary_id: MESH:D016511
 alt_id: OMIA:000220;   RDO:0000219
 xref: GARD:7628;   NCI:C3472
For additional species annotation, visit the Alliance of Genome Resources.


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severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:1300353
RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:11554173
G Cd247 Cd247 molecule JBrowse link 13 83,996,045 84,071,408 RGD:8554872
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:1549420
RGD:8554872
RGD:11554173
G Cd3e CD3e molecule JBrowse link 8 49,297,604 49,309,370 RGD:8554872
RGD:11554173
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:1601049
RGD:8554872
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:2313831
G Iftap intraflagellar transport associated protein JBrowse link 3 91,086,186 91,195,981 RGD:8554872
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:1600060
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:1600009
RGD:8554872
G Il7r interleukin 7 receptor RGD:1600151
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
RGD:11554173
RGD:11531109
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:1599202
RGD:8696027
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:1599983
G Rac2 Rac family small GTPase 2 JBrowse link 7 119,769,708 119,797,111 RGD:8554872
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:1599402
RGD:8554872
RGD:7204131
RGD:1599403
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon RGD:7204134
G Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover RGD:7204131
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599402
RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:1599743
RGD:1599742
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:1599746
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:1599296
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11554173
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:1599880
RGD:8554872
RGD:11554173
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:7240710
RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Rhoh ras homolog family member H JBrowse link 14 43,961,756 43,992,587 RGD:8554872
G Tbx6 T-box transcription factor 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 38,981,903 38,995,570 RGD:7240710
RGD:8554872
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:7240710
RGD:8554872
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin-like glycosyltransferase 3 JBrowse link 15 48,420,419 48,465,171 RGD:8554872
RGD:7240710
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tap1 transporter 1, ATP binding cassette subfamily B member JBrowse link 20 3,979,302 3,989,669 RGD:7240710
RGD:8554872
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:7240710
RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:7240710
RGD:8554872
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:1600188
RGD:8554872
RGD:7240710
RGD:5491200
G Nr2c2ap nuclear receptor 2C2-associated protein JBrowse link 16 21,036,648 21,039,481 RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:8554872
RGD:7240710
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:8554872
RGD:7240710
G Rfxap regulatory factor X-associated protein JBrowse link 2 144,003,453 144,007,636 RGD:8554872
RGD:7240710
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599403
RGD:7240710
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:8554872
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:7240710
RGD:8554872
RGD:11100026
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:7240710
RGD:8554872
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
RGD:8554872
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:8554872
G Meig1 meiosis/spermiogenesis associated 1 JBrowse link 17 78,813,656 78,829,411 RGD:8554872
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:8554872
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:13592920
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:1600254
RGD:7240710
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:13592920
G Il7r interleukin 7 receptor RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:7240710
RGD:8554872
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:7240710
RGD:8554872
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stk4 serine/threonine kinase 4 JBrowse link 3 160,467,552 160,546,540 RGD:7240710
RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        Infant, Newborn, Diseases 411
          severe combined immunodeficiency 51
            CD3delta deficiency 0
            CD3epsilon deficiency 0
            CD3gamma deficiency 0
            CD3zeta deficiency 0
            CD45 deficiency 0
            Combined Cellular and Humoral Immune Defects with Granulomas 2
            HLA Class 1 Deficiency 0
            IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 1
            Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 1
            Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 1
            Immunodeficiency 48 1
            MHC class I deficiency 3
            MHC class II deficiency 5
            Omenn syndrome 3
            Reticuloendotheliosis, X-Linked 0
            Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
            Severe Combined Immunodeficiency, Atypical 1
            Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 1
            Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 0
            T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
            T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
            X-linked severe combined immunodeficiency 3
            adenosine deaminase deficiency 2
            coronin-1A deficiency 8
            interleukin-7 receptor alpha deficiency 0
            janus kinase-3 deficiency 1
            recombinase activating gene 1 deficiency 0
            recombinase activating gene 2 deficiency 1
            reticular dysgenesis 1
            severe combined immunodeficiency with sensitivity to ionizing radiation 3
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 4
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            X-linked monogenic disease 857
              combined T cell and B cell immunodeficiency 66
                severe combined immunodeficiency 51
                  CD3delta deficiency 0
                  CD3epsilon deficiency 0
                  CD3gamma deficiency 0
                  CD3zeta deficiency 0
                  CD45 deficiency 0
                  Combined Cellular and Humoral Immune Defects with Granulomas 2
                  HLA Class 1 Deficiency 0
                  IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 1
                  Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 1
                  Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 1
                  Immunodeficiency 48 1
                  MHC class I deficiency 3
                  MHC class II deficiency 5
                  Omenn syndrome 3
                  Reticuloendotheliosis, X-Linked 0
                  Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
                  Severe Combined Immunodeficiency, Atypical 1
                  Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 1
                  Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 0
                  T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
                  T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
                  X-linked severe combined immunodeficiency 3
                  adenosine deaminase deficiency 2
                  coronin-1A deficiency 8
                  interleukin-7 receptor alpha deficiency 0
                  janus kinase-3 deficiency 1
                  recombinase activating gene 1 deficiency 0
                  recombinase activating gene 2 deficiency 1
                  reticular dysgenesis 1
                  severe combined immunodeficiency with sensitivity to ionizing radiation 3
                  severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 4
                  severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.