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GENE - TERM ANNOTATION REPORT

RGD ID: 619561
Species: Homo sapiens
RGD Object: Gene
Symbol: VDR
Name: vitamin D receptor
Acc ID: HP:0000843
Term: Hyperparathyroidism
Definition: Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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 IAGP 13210778RGDassociated with Hereditary Vitamin D-Resistant Rickets; DNA:missense mutations,nonsense mutation:exon,splice junction: 
VDR IAGP 8699517HPO ORPHA:93160
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