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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 37
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Accession:DOID:0111939 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in BCL10 on chromosome 1p22.3. (DO)
Synonyms:exact_synonym: IMD37
 primary_id: OMIM:616098
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Immunodeficiency 37 OMIM
ClinVar
PMID:24033266 PMID:25365219 PMID:28492532 PMID:32008135 NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      primary immunodeficiency disease 3835
        combined immunodeficiency 772
          combined T cell and B cell immunodeficiency 241
            immunodeficiency 37 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                immunodeficiency 37 1
paths to the root