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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 1
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Accession:DOID:3261 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: Buckley syndrome;   Buckley syndromes;   HIES1;   Job Buckley syndromes;   Job syndrome;   Job syndromes;   Job's syndrome;   Job-Buckley syndrome;   Jobs syndrome;   autosomal dominant HIES;   hyper Immunoglobulin E syndrome, autosomal dominant;   hyper-IgE recurrent infection syndrome 1, autosomal dominant;   hyper-IgE recurrent infection syndrome, autosomal dominant;   hyper-IgE syndrome, autosomal dominant
 primary_id: MESH:C567925
 alt_id: OMIM:147060
 xref: GARD:6800;   NCI:C126342;   ORDO:2314
For additional species annotation, visit the Alliance of Genome Resources.


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hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868, PMID:32207811 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar Annotator: match by term: Job syndrome
OMIM
ClinVar
PMID:4161105, PMID:17676033, PMID:17881745, PMID:17942886, PMID:18591410, PMID:18591412, PMID:18602572, PMID:18706697, PMID:18978467, PMID:19577286, PMID:20032313, PMID:20048285, PMID:20159255, PMID:20301786, PMID:20816194, PMID:21107604, PMID:21324546, PMID:21690253, PMID:21792878, PMID:22030463, PMID:22520845, PMID:22581330, PMID:22591296, PMID:22751495, PMID:23342295, PMID:23584561, PMID:23584591, PMID:23659370, PMID:23830147, PMID:24033266, PMID:24452316, PMID:24627079, PMID:24995504, PMID:25038750, PMID:25359994, PMID:25741868, PMID:25873174, PMID:26343524, PMID:26384563, PMID:26394394, PMID:26702067, PMID:26743515, PMID:27091139, PMID:27226025, PMID:27302695, PMID:27379089, PMID:27799162, PMID:27980540, PMID:28073828, PMID:28098554, PMID:28197791, PMID:28253502, PMID:28315006, PMID:28492532, PMID:28579554, PMID:28587312, PMID:28977911, PMID:29077208, PMID:29162862, PMID:29180260, PMID:29296824, PMID:29330115, PMID:29868029, PMID:17676033 RGD:6892956 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        phagocyte bactericidal dysfunction 31
          hyper IgE syndrome 11
            hyper IgE recurrent infection syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        immune system disease 2927
          primary immunodeficiency disease 2344
            B cell deficiency 88
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  hyperimmunoglobulin syndrome 19
                    hyper IgE syndrome 11
                      hyper IgE recurrent infection syndrome 1 3
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.