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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 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO mRNA,protein:increased expression:blood cells, serum: RGD PMID:26893848 RGD:124713562 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO DNA:polymorphism: :p.P198L (human) RGD PMID:21055077 RGD:11352821 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      cardiovascular system disease 4514
        heart disease 2691
          cardiomyopathy 1093
            Keshan disease 3
Path 2
Term Annotations click to browse term
  disease 17207
    Nutritional and Metabolic Diseases 5534
      disease of metabolism 5534
        acquired metabolic disease 2893
          nutrition disease 919
            Malnutrition 223
              nutritional deficiency disease 214
                Keshan disease 3
paths to the root