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Isolated biliary atresia

ORPHA:30391 · Morphological anomaly · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(3)

  • CholestasisHP:0001396
  • Failure to thriveHP:0001508
  • JaundiceHP:0000952

Frequent (79-30%)(13)

  • Acholic stoolsHP:0011985
  • Atretic gallbladderHP:0011984
  • Conjugated hyperbilirubinemiaHP:0002908
  • Dark yellow urineHP:0040321
  • Decreased liver functionHP:0001410
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated gamma-glutamyltransferase levelHP:0030948
  • Fat malabsorptionHP:0002630
  • HepatomegalyHP:0002240
  • Prolonged neonatal jaundiceHP:0006579
  • Prolonged prothrombin timeHP:0008151
  • Severe failure to thriveHP:0001525

Occasional (29-5%)(11)

  • Abnormal facial shapeHP:0001999
  • Bile duct proliferationHP:0001408
  • CirrhosisHP:0001394
  • HypopituitarismHP:0040075
  • HypothyroidismHP:0000821
  • OphthalmoplegiaHP:0000602
  • Periportal fibrosisHP:0001405
  • PruritusHP:0000989
  • SeizureHP:0001250
  • Small for gestational ageHP:0001518
  • SplenomegalyHP:0001744

Very rare (<4-1%)(1)

  • XanthelasmaHP:0001114