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X-linked Ehlers-Danlos syndrome

ORPHA:75497 · Disease · Disorder

HPO 表現型(共 10 項)

Very frequent (99-80%)(10)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Bruising susceptibilityHP:0000978
  • Gastroesophageal refluxHP:0002020
  • HerniaHP:0100790
  • Hyperextensible skinHP:0000974
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Short statureHP:0004322
  • Thin skinHP:0000963
  • Umbilical herniaHP:0001537