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Familial isolated hyperparathyroidism

Disease definition

A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.

ORPHA:99879

  • Synonym(s):
    • FIHPT
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E21.0
  • OMIM: 145000  610071  617343
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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