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Progressive osseous heteroplasia

ORPHA:2762 · Malformation syndrome · Disorder

HPO 表現型(共 12 項)

Very frequent (99-80%)(4)

  • Bone painHP:0002653
  • Ectopic calcificationHP:0010766
  • Limitation of joint mobilityHP:0001376
  • Subcutaneous noduleHP:0001482

Frequent (79-30%)(1)

  • Ectopic ossification in muscle tissueHP:0011987

Occasional (29-5%)(7)

  • Abnormality of the parathyroid glandHP:0000828
  • BrachydactylyHP:0001156
  • Hypermelanotic maculeHP:0001034
  • MaculeHP:0012733
  • OsteoarthritisHP:0002758
  • PapuleHP:0200034
  • SarcomaHP:0100242