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ONTOLOGY REPORT - ANNOTATIONS


Term:Agammaglobulinemia, X-Linked, Type 2
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Accession:DOID:9005757 term browser browse the term
Definition:Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. IMD61 is caused by hemizygous mutation in the SH3KBP1 gene on chromosome Xp22. One such family has been reported. (OMIM)
Synonyms:exact_synonym: AGMX2;   IMD61;   IMMUNODEFICIENCY 61;   XLA2
 primary_id: MESH:C538057
 alt_id: OMIM:300310;   RDO:0003992
For additional species annotation, visit the Alliance of Genome Resources.


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Agammaglobulinemia, X-Linked, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 JBrowse link X 37,790,004 38,196,365 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      primary immunodeficiency disease 957
        agammaglobulinemia 55
          Agammaglobulinemia, X-Linked, Type 2 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Immune & Inflammatory Diseases 3107
        immune system disease 2528
          lymphatic system disease 874
            lymphoproliferative syndrome 605
              agammaglobulinemia 55
                Agammaglobulinemia, X-Linked, Type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.