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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:Hyper-IgE Recurrent Infection Syndrome 5
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Accession:DOID:9000230 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6R gene on chromosome 1q21. (OMIM)
Synonyms:exact_synonym: HIES5;   autosomal recessive hyper-IgE recurrent infection syndrome-5
 primary_id: OMIM:618944
For additional species annotation, visit the Alliance of Genome Resources.


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Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO OMIM NCBI chrNW_004936580:4,055,438...4,081,876 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12790
    syndrome 6488
      primary immunodeficiency disease 1993
        phagocyte bactericidal dysfunction 31
          hyper IgE syndrome 10
            Hyper-IgE Recurrent Infection Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 12790
    disease of anatomical entity 12470
      Immune & Inflammatory Diseases 2920
        immune system disease 2463
          primary immunodeficiency disease 1993
            B cell deficiency 171
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 19
                    hyper IgE syndrome 10
                      Hyper-IgE Recurrent Infection Syndrome 5 1
paths to the root