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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 ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:31235509 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      primary immunodeficiency disease 2510
        phagocyte bactericidal dysfunction 33
          hyper IgE syndrome 11
            Hyper-IgE Recurrent Infection Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Immune & Inflammatory Diseases 3691
        immune system disease 3053
          primary immunodeficiency disease 2510
            B cell deficiency 182
              selective immunoglobulin deficiency disease 30
                dysgammaglobulinemia 30
                  hyperimmunoglobulin syndrome 21
                    hyper IgE syndrome 11
                      Hyper-IgE Recurrent Infection Syndrome 5 1
paths to the root