Orphanet: Hypocalcemic vitamin D resistant rickets

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Hypocalcemic vitamin D-resistant rickets

Disease definition

A rare genetic, disorder of vitamin D metabolism characterized by hypocalcemia, severe rickets and in many cases alopecia.


Classification level: Disorder
  • Synonym(s):
    • HVDRR
    • Hereditary vitamin D-resistant rickets
    • VDDR II
    • VDRR II
    • Vitamin D-dependent rickets type II
    • Vitamin D-resistant rickets type II
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E83.3
  • ICD-11: 5C63.21
  • OMIM: 277440  600785  619073
  • UMLS: C3536983
  • MeSH: -
  • GARD: -
  • MedDRA: -
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