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GENE - TERM ANNOTATION REPORT

RGD ID: 12639717
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Vdr
Name: vitamin D receptor
Acc ID: DOID:10609
Term: rickets
Definition: A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Rickets "DO" "DO", http://www.mayoclinic.com/health/rickets/DS00813 "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm "DO" "DO", http://www.umm.edu/ency/article/000344.htm "DO" "DO", https://en.wikipedia.org/wiki/Rickets#Types "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26365554 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Vdr ISOVDR (Homo sapiens)9068941RGDVDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human)PMID:2849209 REF_RGD_ID:1624354
Vdr ISOVDR (Homo sapiens)9068941CTDCTD Direct Evidence: marker/mechanismPMID:1338926 PMID:17451081 PMID:22466564
Vdr ISOVdr (Mus musculus)9068941MouseDOOMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 
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