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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 1
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Accession:DOID:3261 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: Buckley syndrome;   Buckley syndromes;   HIES1;   Job Buckley syndromes;   Job syndrome;   Job syndromes;   Job's syndrome;   Job-Buckley syndrome;   Jobs syndrome;   autosomal dominant HIES;   hyper Immunoglobulin E syndrome, autosomal dominant;   hyper-IgE recurrent infection syndrome 1, autosomal dominant;   hyper-IgE recurrent infection syndrome, autosomal dominant;   hyper-IgE syndrome, autosomal dominant
 primary_id: MESH:C567925
 alt_id: OMIM:147060
 xref: GARD:6800;   NCI:C126342;   ORDO:2314
For additional species annotation, visit the Alliance of Genome Resources.


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hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chrNW_004936501:11,025,590...11,058,807 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chrNW_004936480:11,867,573...11,913,563 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO OMIM NCBI chrNW_004936490:17,119,189...17,178,402 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 1 3
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 1 3
paths to the root