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 C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 More...
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
DNA:mutation:cds:
OMIM
ClinVar
RGD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 More... NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      primary immunodeficiency disease 3835
        phagocyte bactericidal dysfunction 95
          hyper IgE syndrome 12
            hyper IgE recurrent infection syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Immune & Inflammatory Diseases 5187
        immune system disease 4499
          primary immunodeficiency disease 3835
            B cell deficiency 282
              selective immunoglobulin deficiency disease 43
                dysgammaglobulinemia 43
                  hyperimmunoglobulin syndrome 34
                    hyper IgE syndrome 12
                      hyper IgE recurrent infection syndrome 2 3
paths to the root