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Псевдогіпопаратиреоз, тип 2

ORPHA:94090· ICD-10 E20.1· Pseudohypoparathyroidism type 2

Визначення(English summary)

Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.

Поширеність
Unknown
Успадкування
Not applicable
Вік початку
All ages