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Satoyoshi syndrome

ORPHA:3130 · Disease · Disorder

HPO 表現型(共 24 項)

Very frequent (99-80%)(24)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal femur morphologyHP:0002823
  • Abnormal hair morphologyHP:0001595
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal humerus morphologyHP:0031095
  • Abnormal joint morphologyHP:0001367
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormality of the kneeHP:0002815
  • Abnormality of the ovaryHP:0000137
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of the uterusHP:0000130
  • Abnormality of the wristHP:0003019
  • Alopecia universalisHP:0002289
  • AmenorrheaHP:0000141
  • Genu varumHP:0002970
  • HyperlordosisHP:0003307
  • Hypoplasia of the ovaryHP:0008724
  • Hypoplasia of the uterusHP:0000013
  • Intermittent painful muscle spasmsHP:0011964
  • MicrocephalyHP:0000252
  • Nephrogenic diabetes insipidusHP:0009806
  • Short statureHP:0004322
  • Sparse or absent eyelashesHP:0200102
  • Tapered fingerHP:0001182