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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;   Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections;   autosomal recessive hyper-IgE recurrent infection syndrome-5
 primary_id: MIM:618944


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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 ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM
ClinVar		 PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      primary immunodeficiency disease 4429
        phagocyte bactericidal dysfunction 179
          hyper IgE syndrome 40
            Hyper-IgE Recurrent Infection Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Immune & Inflammatory Diseases 5767
        immune system disease 5044
          primary immunodeficiency disease 4429
            B cell deficiency 443
              selective immunoglobulin deficiency disease 73
                dysgammaglobulinemia 73
                  hyperimmunoglobulin syndrome 65
                    hyper IgE syndrome 40
                      Hyper-IgE Recurrent Infection Syndrome 5 1
paths to the root