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Familial gestational hyperthyroidism

ORPHA:99819 · Disease · Disorder

HPO 表現型（共 15 項）

Obligate (100%)(3)

  • Activating thyroid-stimulating hormone receptor defectHP:0011790
  • Hyperemesis gravidarumHP:0012188
  • HyperthyroidismHP:0000836

Very frequent (99-80%)(6)

  • DiarrheaHP:0002014
  • GoiterHP:0000853
  • Hand tremorHP:0002378
  • Thyroid hyperplasiaHP:0008249
  • Thyrotoxicosis with diffuse goiterHP:0011784
  • Weight lossHP:0001824

Frequent (79-30%)(4)

  • AgitationHP:0000713
  • HyperactivityHP:0000752
  • Motor delayHP:0001270
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(1)

  • ProptosisHP:0000520

Excluded (0%)(1)

  • Autoimmune antibody positivityHP:0030057