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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:immunodeficiency 35
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Accession:DOID:0111989 term browser browse the term
Definition:A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive;   IMD35;   TYK2 Deficiency;   autosomal recessiv HIES with atypical mycobacteriosis;   autosomal recessive HIES with atypical mycobacteriosis;   susceptibility to infection due to TYK2 deficiency;   tyrosine kinase 2 deficiency
 primary_id: MESH:C566928
 alt_id: OMIM:611521
 xref: ORDO:331226
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by OMIM:611521
ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency
OMIM
ClinVar
PMID:17088085 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27872624 PMID:28492532 PMID:29725107 PMID:31118190 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      primary immunodeficiency disease 2376
        immunodeficiency 35 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Immune & Inflammatory Diseases 3588
        immune system disease 2957
          primary immunodeficiency disease 2376
            B cell deficiency 89
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  hyperimmunoglobulin syndrome 20
                    hyper IgE syndrome 11
                      immunodeficiency 35 1
paths to the root