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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:B cell and dendritic cell deficiency
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Accession:DOID:0111964 term browser browse the term
Definition:A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. (DO)


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immunodeficiency 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      primary immunodeficiency disease 4152
        combined immunodeficiency 896
          B cell and dendritic cell deficiency 1
            immunodeficiency 59 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Immune & Inflammatory Diseases 5574
        immune system disease 4782
          primary immunodeficiency disease 4152
            combined immunodeficiency 896
              B cell and dendritic cell deficiency 1
                immunodeficiency 59 1
paths to the root