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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 4
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Accession:DOID:0080596 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. (DO)
Synonyms:exact_synonym: HIES4;   hyper-IgE recurrent infection syndrome 4, autosomal recessive
 primary_id: OMIM:618523
For additional species annotation, visit the Alliance of Genome Resources.


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hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:28747427, PMID:30309848 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      primary immunodeficiency disease 2347
        phagocyte bactericidal dysfunction 31
          hyper IgE syndrome 11
            hyper IgE recurrent infection syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Immune & Inflammatory Diseases 3509
        immune system disease 2929
          primary immunodeficiency disease 2347
            B cell deficiency 88
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  hyperimmunoglobulin syndrome 19
                    hyper IgE syndrome 11
                      hyper IgE recurrent infection syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.