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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:Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
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Accession:DOID:9005774 term browser browse the term
Synonyms:primary_id: MESH:C563691
 alt_id: OMIM:609889



show annotations for term's descendants           Sort by:
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag1 recombination activating 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
OMIM
CTD
ClinVar
PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        autoimmune disease 2317
          Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Hemic and Lymphatic Diseases 3847
        hematopoietic system disease 3338
          leukocyte disease 1306
            leukopenia 559
              lymphopenia 65
                T-Lymphocytopenia 8
                  Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 1
paths to the root