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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked agammaglobulinemia
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Accession:DOID:14179 term browser browse the term
Definition:An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. (DO)
Synonyms:exact_synonym: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1;   AGMX1;   Agammaglobulinemia, BTK;   Agammaglobulinemia, X-Linked, Type I;   BTK deficiency;   Bruton agammaglobulinemia tyrosine kinase deficiency;   Bruton's Agammaglobulinemia;   Bruton's Sex-Linked Agammaglobulinemia;   Bruton's agammaglobulinaemia;   Bruton's type agammaglobulinemia;   Bruton-type (congenital X-linked) agammaglobulinemia;   Bruton-type agammaglobulinemia;   IMD1;   XLA;   agammaglobulinemia, Bruton tyrosine kinase;   congenital agammaglobulinemia;   immunodeficiency 1
 narrow_synonym: X-linked hypoagammaglobulinemia;   X-linked hypogammaglobulinemia
 primary_id: MESH:C537409
 alt_id: OMIM:300755;   RDO:0003249
 xref: NCI:C3822;   ORDO:47
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X-linked agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
RGD:11040588
RGD:11040698
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      primary immunodeficiency disease 988
        agammaglobulinemia 55
          X-linked agammaglobulinemia 2
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      Immune & Inflammatory Diseases 3130
        immune system disease 2548
          lymphatic system disease 909
            lymphoproliferative syndrome 640
              agammaglobulinemia 55
                X-linked agammaglobulinemia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.