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Details for phenotype: Primary hyperparathyroidism
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EndoNet ID: ENP00496
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Name
Primary hyperparathyroidism
General information
This phenotype is pathologic
Biochemically primary hyperparathyroidism is characterised by persistent hypercalcaemia in the presence of inappropriately normal or elevated PTH.
[1]
Links to other resources
GO
response to parathyroid hormone stimulus
MeSH term
D049950
Disease database
6283
Phenotype triggers
more activity (high ligand concentration, overexpression) of
PTHR1
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in
kidney
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Primary hyperparathyroidism is a relatively common endocrine disorder caused by abnormal regulation and hyper‐secretion of parathyroid hormone (PTH) from the parathyroid glands.
[2]
Reference
