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Autosomal dominant hypocalcemia

Disease definition

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

ORPHA:428

  • Synonym(s):
    • AD hypocalcemia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E20.8
  • OMIM: 601198  615361
  • UMLS: -
  • MeSH: -
  • GARD: 2877
  • MedDRA: -

Detailed information

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