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Lymphangioleiomyomatosis

ORPHA:538 · Disease · Disorder

HPO 表現型(共 36 項)

Very frequent (99-80%)(6)

  • Abnormality of the lymphatic systemHP:0100763
  • Chest painHP:0100749
  • CoughHP:0012735
  • DyspneaHP:0002094
  • Pulmonary infiltratesHP:0002113
  • Restrictive ventilatory defectHP:0002091

Frequent (79-30%)(11)

  • Abdominal painHP:0002027
  • Abnormal morphology of female internal genitaliaHP:0000008
  • AtelectasisHP:0100750
  • ChylothoraxHP:0010310
  • EmphysemaHP:0002097
  • HematuriaHP:0000790
  • LymphadenopathyHP:0002716
  • PneumothoraxHP:0002107
  • Pulmonary lymphangiomyomatosisHP:0012798
  • Renal angiomyolipomaHP:0006772
  • Ungual fibromaHP:0100804

Occasional (29-5%)(19)

  • Abnormal skin pigmentationHP:0001000
  • Abnormal urinary colorHP:0012086
  • AscitesHP:0001541
  • ChylopericardiumHP:0011852
  • Cognitive impairmentHP:0100543
  • FatigueHP:0012378
  • FeverHP:0001945
  • Gastrointestinal hemorrhageHP:0002239
  • HemoptysisHP:0002105
  • HydrocephalusHP:0000238
  • LymphedemaHP:0001004
  • MaculeHP:0012733
  • Multiple renal cystsHP:0005562
  • Optic atrophyHP:0000648
  • Recurrent respiratory infectionsHP:0002205
  • Renal neoplasmHP:0009726
  • Retinal hamartomaHP:0009594
  • SeizureHP:0001250
  • Shagreen patchHP:0009721