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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:Kashin-Beck Disease
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Accession:DOID:9004038 term browser browse the term
Definition:Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.
Synonyms:primary_id: MESH:D057767;   RDO:0007791
 xref: EFO:0006511


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Kashin-Beck Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:articular cartilage, chondrocyte RGD PMID:16511931 RGD:10054094 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO protein:increased expression:articular cartilage, chondrocyte RGD PMID:16511931 RGD:10054094 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:articular cartilage, chondrocyte RGD PMID:16511931 RGD:10054094 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      bone development disease 2307
        osteochondrodysplasia 861
          Kashin-Beck Disease 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                Kashin-Beck Disease 3
paths to the root