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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 the TYK2 gene 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



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY
OMIM
CTD
ClinVar
PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        immunodeficiency 35 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Immune & Inflammatory Diseases 5560
        immune system disease 4768
          primary immunodeficiency disease 4141
            B cell deficiency 345
              selective immunoglobulin deficiency disease 48
                dysgammaglobulinemia 48
                  hyperimmunoglobulin syndrome 39
                    hyper IgE syndrome 18
                      immunodeficiency 35 1
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