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ONTOLOGY REPORT - ANNOTATIONS


Term:CD40 ligand deficiency
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Accession:DOID:0060022 term browser browse the term
Definition:An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.
Synonyms:exact_synonym: HIGM1;   HIGM1 syndrome;   HIGM1 syndromes;   HIGMX-1;   Hyper IgM Syndrome 1;   IHIS;   IMD3;   IMMUNODEFICIENCY 3;   Immunodeficiency with Hyper IgM, Type 1;   X-linked hyper-IgM immunodeficiencies;   X-linked hyper-IgM immunodeficiency;   X-linked hyper-IgM syndrome;   X-linked hyper-immunoglobulin M (IgM) syndrome;   XHIGM;   XHIM;   hyper-IgM immunodeficiency syndrome, type 1
 primary_id: MESH:D053307
 alt_id: OMIM:308230;   RDO:0007615
For additional species annotation, visit the Alliance of Genome Resources.


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CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490298
RGD:8554872
RGD:11554173
RGD:11039457
RGD:8547781
RGD:8547779
RGD:7240710
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      primary immunodeficiency disease 954
        combined T cell and B cell immunodeficiency 67
          CD40 ligand deficiency 3
            Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      Immune & Inflammatory Diseases 3091
        immune system disease 2518
          primary immunodeficiency disease 954
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    CD40 ligand deficiency 3
                      Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 2
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.