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Aromatase deficiency

ORPHA:91 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(20)

  • Ambiguous genitalia, femaleHP:0000061
  • Bone painHP:0002653
  • CryptorchidismHP:0000028
  • Delayed epiphyseal ossificationHP:0002663
  • Delayed skeletal maturationHP:0002750
  • Enlarged polycystic ovariesHP:0008675
  • Eunuchoid habitusHP:0003782
  • Female infertilityHP:0008222
  • Female pseudohermaphroditismHP:0010458
  • Genu valgumHP:0002857
  • Growth delayHP:0001510
  • Hypergonadotropic hypogonadismHP:0000815
  • HyperlipidemiaHP:0003077
  • Male infertilityHP:0003251
  • Maternal virilization in pregnancyHP:0008072
  • ObesityHP:0001513
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Primary amenorrheaHP:0000786
  • Tall statureHP:0000098

Frequent (79-30%)(6)

  • Acanthosis nigricansHP:0000956
  • Generalized hirsutismHP:0002230
  • Hepatic steatosisHP:0001397
  • Insulin resistanceHP:0000855
  • Macroorchidism, postpubertalHP:0002050
  • Type II diabetes mellitusHP:0005978