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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:immunodeficiency with hyper-IgM type 4
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Accession:DOID:0060760 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. (DO)
Synonyms:exact_synonym: HIGM4;   Hyper-Igm Syndrome 4;   hyper-IgM syndrome type 4
 primary_id: MESH:C564277
 alt_id: MIM:608184
 xref: GARD:10580;   NCI:C564277;   ORDO:101091



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Hypergammaglobulinemia 20
          immunodeficiency with hyper-IgM type 4 0
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Immune & Inflammatory Diseases 5752
        immune system disease 5031
          primary immunodeficiency disease 4432
            B cell deficiency 443
              selective immunoglobulin deficiency disease 73
                dysgammaglobulinemia 73
                  hyperimmunoglobulin syndrome 65
                    hyper IgM syndrome 20
                      immunodeficiency with hyper-IgM type 4 0
paths to the root