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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 60
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Accession:DOID:0111954 term browser browse the term
Definition:A combined T cell and B ell immunodeficiency characterized by dysregulation of both B and T cells, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in BACH2 on chromosome 6q15. (DO)
Synonyms:exact_synonym: BRIDA;   IMD60;   immunodeficiency and autoimmunity, BACH2-related
 primary_id: OMIM:618394
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 60 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 60
ClinVar Annotator: match by term: Immunodeficiency 60
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28530713 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      primary immunodeficiency disease 2705
        combined immunodeficiency 183
          combined T cell and B cell immunodeficiency 66
            immunodeficiency 60 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                immunodeficiency 60 1
paths to the root