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 2
go back to main search page
Accession:DOID:0080594 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (DO)
Synonyms:exact_synonym: HIES2;   hyper-IgE recurrent infection syndrome 2, autosomal recessive
 primary_id: OMIM:243700
 xref: GARD:2816;   ORDO:217390
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutation:cds: OMIM PMID:21763205 RGD:40907054 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link

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 2 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 2 1
paths to the root