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ONTOLOGY REPORT - ANNOTATIONS


Term:severe combined immunodeficiency with sensitivity to ionizing radiation
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Accession:DOID:0090012 term browser browse the term
Definition:A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. (DO)
Synonyms:exact_synonym: ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY;   RS-SCID;   SCID due to DCLRE1C deficiency;   SCID due to artemis deficiency;   SCID, Athabascan type;   SCID, Athabaskan type;   SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation;   SCIDA;   Severe combined immunodeficiency due to artemis deficiency;   Severe combined immunodeficiency, Athabaskan type;   artemis deficiency;   severe combined immunodeficiency due to DCLRE1C deficiency;   severe combined immunodeficiency, Athabascan type
 narrow_synonym: SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE;   partial severe combined immunodeficiency
 primary_id: MESH:C536786;   MESH:C537589
 alt_id: DOID:0060006;   OMIM:602450;   RDO:0002475;   RDO:0003458;   RDO:9002902
 xref: ORDO:275
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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

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Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Infant, Newborn, Diseases 411
          severe combined immunodeficiency 52
            severe combined immunodeficiency with sensitivity to ionizing radiation 3
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            X-linked monogenic disease 847
              combined T cell and B cell immunodeficiency 67
                severe combined immunodeficiency 52
                  severe combined immunodeficiency with sensitivity to ionizing radiation 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.