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Pseudohypoparathyroidism type 2

Disease definition

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.

ORPHA:94090

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: All ages
  • ICD-10: E20.1
  • OMIM: 203330
  • UMLS: C0271870  C2932717
  • MeSH: C548077
  • GARD: 10682
  • MedDRA: -

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