ONTOLOGY REPORT - ANNOTATIONS


Term:severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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Accession:DOID:0090013 term browser browse the term
Definition:A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)
Synonyms:exact_synonym: ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY;   OMIA:001986;   SCID due to complete RAG1-2 deficiency;   SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive;   SEVERE IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T-CELL NEGATIVE, B-CELL NEGATIVE, NK CELL-POSITIVE;   Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive;   severe combined immunodeficiency due to complete RAG1-2 deficiency;   severe combined immunodeficiency, B cell-negative
 related_synonym: severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation
 primary_id: MESH:C563311
 alt_id: OMIA:001574;   OMIM:601457;   RDO:0012607
 xref: ORDO:331206
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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

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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Infant, Newborn, Diseases 405
          severe combined immunodeficiency 53
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 4
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            X-linked monogenic disease 490
              combined T cell and B cell immunodeficiency 68
                severe combined immunodeficiency 53
                  severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.