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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:T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations
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Accession:DOID:9000240 term browser browse the term
Synonyms:exact_synonym: MST1 DEFICIENCY;   STK4 DEFICIENCY;   TIIAC
 primary_id: OMIM:614868
For additional species annotation, visit the Alliance of Genome Resources.


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T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by OMIM:614868
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
OMIM
ClinVar
PMID:22174160, PMID:22294732, PMID:25741868, PMID:28492532 NCBI chr 3:160,467,552...160,546,540
Ensembl chr 3:160,467,552...160,546,540
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      primary immunodeficiency disease 2347
        combined immunodeficiency 148
          severe combined immunodeficiency 91
            T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Immune & Inflammatory Diseases 3509
        immune system disease 2929
          primary immunodeficiency disease 2347
            combined immunodeficiency 148
              severe combined immunodeficiency 91
                T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
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.