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Pseudopseudohypoparathyroidism

Disease definition

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

ORPHA:79445

  • Synonym(s):
    • AHO-PPHP syndrome
    • Albright hereditary osteodystrophy-PPHP syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E20.1
  • OMIM: 612463
  • UMLS: C0033835
  • MeSH: D011556
  • GARD: 7860
  • MedDRA: -

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