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ONTOLOGY REPORT - ANNOTATIONS


Term:janus kinase-3 deficiency
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Accession:DOID:0060008 term browser browse the term
Definition:A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. (DO)
Synonyms:primary_id: RDO:9002904
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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

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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
            janus kinase-3 deficiency 1
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
                  janus kinase-3 deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.