Orphanet: Adult hypophosphatasia
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Adult hypophosphatasia

Disease definition

A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.

ORPHA:247676

Classification level: Subtype of disorder
  • Synonym(s):
    • Adult Rathbun disease
    • Adult phosphoethanolaminuria
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E83.3
  • OMIM: 146300
  • UMLS: C0268413
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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