Orphanet: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
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Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Disease definition

A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.

ORPHA:244305

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: -
  • OMIM: 612286  612287
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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