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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: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;   immunodeficiency with hyper IgM type 1
 xref: GARD:73;   NCI:C3990
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12530
    syndrome 6369
      primary immunodeficiency disease 1957
        B cell deficiency 166
          hyperimmunoglobulin syndrome 19
            hyper IgM syndrome 6
              X-linked hyper IgM syndrome 1
Path 2
Term Annotations click to browse term
  disease 12530
    disease of anatomical entity 12210
      Immune & Inflammatory Diseases 2866
        immune system disease 2414
          primary immunodeficiency disease 1957
            B cell deficiency 166
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 19
                    hyper IgM syndrome 6
                      X-linked hyper IgM syndrome 1
paths to the root