Orphanet: X linked hypophosphatemia

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X-linked hypophosphatemia

Disease definition

X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.


Classification level: Disorder
  • Synonym(s):
    • X-linked hypophosphatemic rickets
    • XLH
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood, Infancy
  • ICD-10: E83.3
  • OMIM: 307800
  • UMLS: C0733682  C3536984  C3540852
  • MeSH: -
  • GARD: 12943
  • MedDRA: -

Detailed information

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