Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: OMIM:618944



show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
ClinVar
OMIM
PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      primary immunodeficiency disease 5012
        phagocyte bactericidal dysfunction 180
          hyper IgE syndrome 31
            Hyper-IgE Recurrent Infection Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      Immune & Inflammatory Diseases 6721
        immune system disease 5885
          primary immunodeficiency disease 5012
            B cell deficiency 621
              selective immunoglobulin deficiency disease 67
                dysgammaglobulinemia 67
                  hyperimmunoglobulin syndrome 56
                    hyper IgE syndrome 31
                      Hyper-IgE Recurrent Infection Syndrome 5 1
paths to the root