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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
ClinVar Annotator: match by term: Immunodeficiency 35		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        immunodeficiency 35 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          primary immunodeficiency disease 2723
            B cell deficiency 192
              selective immunoglobulin deficiency disease 30
                dysgammaglobulinemia 30
                  hyperimmunoglobulin syndrome 21
                    hyper IgE syndrome 11
                      immunodeficiency 35 1
paths to the root