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Pseudohypoparathyroidism

Disease definition

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).

ORPHA:97593

Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: All ages
  • ICD-10: E20.1
  • OMIM: -
  • UMLS: C0033806
  • MeSH: D011547
  • GARD: 10758
  • MedDRA: 10037126

Detailed information

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