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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
 narrow_synonym: HIES4A;   HIES4B;   hyper-IgE recurrent infection syndrome 4, autosomal recessive;   hyper-IgE recurrent infection syndrome 4A, autosomal dominant;   hyper-IgE recurrent infection syndrome 4B, autosomal recessive
 alt_id: OMIM:618523;   OMIM:619752
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 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 More... NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      primary immunodeficiency disease 3835
        phagocyte bactericidal dysfunction 95
          hyper IgE syndrome 12
            hyper IgE recurrent infection syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Immune & Inflammatory Diseases 5187
        immune system disease 4499
          primary immunodeficiency disease 3835
            B cell deficiency 282
              selective immunoglobulin deficiency disease 43
                dysgammaglobulinemia 43
                  hyperimmunoglobulin syndrome 34
                    hyper IgE syndrome 12
                      hyper IgE recurrent infection syndrome 4 1
paths to the root