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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked hyper IgM syndrome
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Accession:DOID:6620 term browser browse the term
Definition:A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26. (DO)
Synonyms:exact_synonym: hyperimmunoglobulin M syndrome
 xref: GARD:73;   NCI:C3990;   NCI:C84783
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X-linked hyper IgM syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          hyperimmunoglobulin syndrome 16
            hyper IgM syndrome 4
              X-linked hyper IgM syndrome 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Immune & Inflammatory Diseases 3100
        immune system disease 2521
          primary immunodeficiency disease 957
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    hyper IgM syndrome 4
                      X-linked hyper IgM syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.