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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:recombinase activating gene 2 deficiency
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Accession:DOID:0060012 term browser browse the term
Definition:A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)
Synonyms:exact_synonym: RAG2 DEFICIENCY
 primary_id: RDO:9002906
For additional species annotation, visit the Alliance of Genome Resources.


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recombinase activating gene 2 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: RAG2 deficiency
ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency
ClinVar PMID:25741868, PMID:28492532, PMID:29772310 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      primary immunodeficiency disease 2348
        combined immunodeficiency 148
          severe combined immunodeficiency 91
            recombinase activating gene 2 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            combined immunodeficiency 148
              severe combined immunodeficiency 91
                recombinase activating gene 2 deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.