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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 2
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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.


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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 ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:14722525, PMID:18060736, PMID:19776401, PMID:24033266, PMID:25724123, PMID:25741868, PMID:26046366, PMID:26744459, PMID:28492532, PMID:30311386 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      primary immunodeficiency disease 2348
        phagocyte bactericidal dysfunction 31
          hyper IgE syndrome 11
            hyper IgE recurrent infection syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            B cell deficiency 88
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  hyperimmunoglobulin syndrome 19
                    hyper IgE syndrome 11
                      hyper IgE recurrent infection syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.