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Wolman disease

ORPHA:75233 · Clinical subtype · Subtype of disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(7)

  • Abdominal distentionHP:0003270
  • Adrenal calcificationHP:0010512
  • Global developmental delayHP:0001263
  • Hepatic failureHP:0001399
  • HepatomegalyHP:0002240
  • Nausea and vomitingHP:0002017
  • SteatorrheaHP:0002570

Frequent (79-30%)(6)

  • AnemiaHP:0001903
  • AscitesHP:0001541
  • CachexiaHP:0004326
  • Growth delayHP:0001510
  • MalnutritionHP:0004395
  • SplenomegalyHP:0001744

Occasional (29-5%)(4)

  • Adrenal insufficiencyHP:0000846
  • Bone-marrow foam cellsHP:0004333
  • Esophageal varixHP:0002040
  • FeverHP:0001945