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Familial tumoral calcinosis

ORPHA:53715 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(4)

  • Bone painHP:0002653
  • Calcification of musclesHP:0100249
  • Periarticular subcutaneous nodulesHP:0007470
  • Subcutaneous noduleHP:0001482

Frequent (79-30%)(3)

  • ErythemaHP:0010783
  • HyperostosisHP:0100774
  • Skin rashHP:0000988

Occasional (29-5%)(11)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the gingivaHP:0000168
  • GingivitisHP:0000230
  • HepatomegalyHP:0002240
  • Hoarse voiceHP:0001609
  • HyperhidrosisHP:0000975
  • Hypopigmented skin patchesHP:0001053
  • Neoplasm of the skinHP:0008069
  • NephrocalcinosisHP:0000121
  • SplenomegalyHP:0001744