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Congenital isolated ACTH deficiency

ORPHA:199296 · Disease · Disorder

HPO 表現型（共 11 項）

Obligate (100%)(3)

  • Adrenocorticotropin deficient adrenal insufficiencyHP:0011735
  • Decreased circulating cortisol levelHP:0008163
  • Neonatal hypoglycemiaHP:0001998

Very frequent (99-80%)(4)

  • Adrenal hypoplasiaHP:0000835
  • FatigueHP:0012378
  • HyponatremiaHP:0002902
  • HypotensionHP:0002615

Frequent (79-30%)(2)

  • Hypoglycemic seizuresHP:0002173
  • Prolonged neonatal jaundiceHP:0006579

Occasional (29-5%)(1)

  • HepatitisHP:0012115

Excluded (0%)(1)

  • HyperkalemiaHP:0002153