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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: DOCK8-RELATED CONDITION;   HIES2;   hyper-IgE recurrent infection syndrome 2, autosomal recessive;   hyper-IgE syndrome 2, autosomal recessive, with recurrent infections
 primary_id: MIM:243700
 xref: GARD:2816;   ORDO:217390


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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 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutation:cds:
ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS		 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 SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    syndrome 11279
      primary immunodeficiency disease 4425
        phagocyte bactericidal dysfunction 177
          hyper IgE syndrome 39
            hyper IgE recurrent infection syndrome 2 4
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      Immune & Inflammatory Diseases 5759
        immune system disease 5039
          primary immunodeficiency disease 4425
            B cell deficiency 440
              selective immunoglobulin deficiency disease 71
                dysgammaglobulinemia 71
                  hyperimmunoglobulin syndrome 63
                    hyper IgE syndrome 39
                      hyper IgE recurrent infection syndrome 2 4
paths to the root