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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 15B
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Accession:DOID:9001633 term browser browse the term
Definition:An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Functional studies show impaired differentiation and activation of immune cells
Synonyms:exact_synonym: IMD15B
 primary_id: OMIM:615592
 alt_id: RDO:9001006
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Immunodeficiency 15B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G M Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta RGD:7240710
RGD:9068941
G V IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 8 40,267,532 40,325,282 RGD:7240710
RGD:9068941
G P IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 17 11,289,607 11,348,557 RGD:7240710
RGD:9068941
G S Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link NW_004936785 358,128 406,751 RGD:7240710
RGD:9068941
G D IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 16 23,359,551 23,419,114 RGD:7240710
RGD:9068941
G B IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 8 38,960,594 39,020,971 RGD:7240710
RGD:9068941
G C Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link NW_004955536 611,965 658,647 RGD:7240710
RGD:9068941
G R Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 16 74,177,233 74,230,809 RGD:7240710
G M Ikbkb inhibitor of kappaB kinase beta JBrowse link 8 22,659,205 22,706,589 RGD:7240710
G H IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 8 42,270,727 42,332,653 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 103583
    syndrome 43177
      primary immunodeficiency disease 7323
        IMMUNODEFICIENCY 15 111
          Immunodeficiency 15B 8
Path 2
Term Annotations click to browse term
  disease 103583
    disease of anatomical entity 99846
      Immune & Inflammatory Diseases 21698
        immune system disease 17839
          primary immunodeficiency disease 7323
            IMMUNODEFICIENCY 15 111
              Immunodeficiency 15B 8
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.