Details for phenotype: familial isolated hypoparathyroidism

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• General information
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EndoNet ID: ENP00498

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Name

familial isolated hypoparathyroidism

General information

This phenotype is pathologic

• Hypoparathyroidism is the result of a decreased function of the parathyroid glands, leading to decreased levels of parathyroid hormone (PTH). [1]

Links to other resources

GO	parathyroid gland development
OMIM	146200
MeSH term	D007011
Disease database	6490

Phenotype triggers

• PTHR1 ui-button
  in kidney ui-button
  • Familial isolated hypoparathyroidism can be caused by mutation in the parathyroid hormone gene. [1]

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