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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:Immune Deficiency Disease
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Accession:DOID:9004654 term browser browse the term
Synonyms:primary_id: MESH:C565469
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Immune Deficiency Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2rg interleukin 2 receptor subunit gamma IMP RGD PMID:29688994 RGD:13628403 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823
JBrowse link
G Il2rgem1Ang interleukin 2 receptor subunit gamma;TALEN induced mutant1, Ang IMP RGD PMID:29688994 RGD:13628403
G Rag1 recombination activating 1 IMP RGD PMID:29688994 RGD:13628403 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon IMP RGD PMID:29688994 RGD:13628403

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        Immune Deficiency Disease 6
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Immune & Inflammatory Diseases 5182
        immune system disease 4489
          primary immunodeficiency disease 3832
            Immune Deficiency Disease 6
paths to the root