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Hypophosphatemic rickets

Disease definition

A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.

ORPHA:437

Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: All ages
  • ICD-10: E83.3
  • ICD-11: 5C63.22
  • OMIM: -
  • UMLS: C1704375  C2363065  C3536983
  • MeSH: -
  • GARD: 6735
  • MedDRA: 10060873

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.