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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 60
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Accession:DOID:9007541 term browser browse the term
Definition:Immunodeficiency-60 (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation. IMD60 is caused by heterozygous mutation in the BACH2 gene on chromosome 6q15. (OMIM)
Synonyms:exact_synonym: BRIDA;   IMD60;   IMMUNODEFICIENCY AND AUTOIMMUNITY, BACH2-RELATED
 primary_id: OMIM:618394
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Immunodeficiency 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bach2 BTB domain and CNC homolog 2 JBrowse link 5 47,458,891 47,807,176 RGD:7240710
RGD:8554872

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  disease 15553
    syndrome 5224
      primary immunodeficiency disease 978
        Immunodeficiency 60 1
Path 2
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  disease 15553
    disease of anatomical entity 14837
      Immune & Inflammatory Diseases 3120
        immune system disease 2541
          primary immunodeficiency disease 978
            Immunodeficiency 60 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.