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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 the BCL10 gene on chromosome 1p22.3. (DO)
Synonyms:exact_synonym: IMD37
 primary_id: OMIM:616098



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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25365219 PMID:25741868 More... 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 21120
    syndrome 10776
      primary immunodeficiency disease 4140
        combined immunodeficiency 895
          combined T cell and B cell immunodeficiency 337
            immunodeficiency 37 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            autosomal genetic disease 9457
              autosomal recessive disease 6522
                immunodeficiency 37 1
paths to the root