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Hirschsprung disease

ORPHA:388 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(6)

  • Abdominal painHP:0002027
  • Aganglionic megacolonHP:0002251
  • ConstipationHP:0002019
  • Functional abnormality of the gastrointestinal tractHP:0012719
  • Intestinal obstructionHP:0005214
  • Nausea and vomitingHP:0002017

Frequent (79-30%)(5)

  • Abdominal distentionHP:0003270
  • Bilious emesisHP:0034754
  • Delayed passage of meconiumHP:6000224
  • Feeding difficultiesHP:0011968
  • Weight lossHP:0001824

Occasional (29-5%)(8)

  • Colon perforationHP:0031369
  • DiarrheaHP:0002014
  • EnterocolitisHP:0004387
  • Failure to thrive in infancyHP:0001531
  • Growth delayHP:0001510
  • PolyhydramniosHP:0001561
  • SepsisHP:0100806
  • Short statureHP:0004322