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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:Keshan disease
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Accession:DOID:0050083 term browser browse the term
Definition:A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO)
Synonyms:primary_id: MESH:C536166;   RDO:0001632
 xref: GARD:8761
For additional species annotation, visit the Alliance of Genome Resources.


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Keshan disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        heart disease 2667
          cardiomyopathy 1088
            Keshan disease 1
Path 2
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          nutrition disease 915
            Malnutrition 196
              nutritional deficiency disease 188
                Keshan disease 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.