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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 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        immunodeficiency 35 1
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
                      immunodeficiency 35 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.