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ONTOLOGY REPORT - ANNOTATIONS


Term:agammaglobulinemia 5
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Accession:DOID:0080588 term browser browse the term
Definition:An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: AGM5;   autosomal dominant agammaglobulinemia 5;   autosomal dominant agammaglobulinemia due to LRRC8A defect
 primary_id: OMIM:613506
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agammaglobulinemia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A JBrowse link 3 8,801,544 8,829,506 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      primary immunodeficiency disease 957
        agammaglobulinemia 55
          agammaglobulinemia 5 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Immune & Inflammatory Diseases 3100
        immune system disease 2521
          lymphatic system disease 874
            lymphoproliferative syndrome 605
              agammaglobulinemia 55
                agammaglobulinemia 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.