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ONTOLOGY REPORT - ANNOTATIONS


Term:immunodeficiency with hyper IgM type 5
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Accession:DOID:0060759 term browser browse the term
Definition:A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO)
Synonyms:exact_synonym: HIGM5;   HIGM5 syndrome;   hyper IgM immunodeficiency syndrome type 5;   hyper-IgM syndrome 5;   hyper-IgM syndrome due to UNG deficiency;   hyper-IgM syndrome due to uracil N-glycosylase
 primary_id: OMIM:608106
 alt_id: RDO:9004212
 xref: ORDO:101092;   ORDO:183666
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immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Signs and Symptoms 4688
        Hypergammaglobulinemia 13
          immunodeficiency with hyper IgM type 5 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Immune & Inflammatory Diseases 3092
        immune system disease 2518
          primary immunodeficiency disease 957
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    hyper IgM syndrome 4
                      immunodeficiency with hyper IgM type 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.