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Axial mesodermal dysplasia spectrum

ORPHA:1834 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(37)

  • Abnormal gastrointestinal tract morphologyHP:0012718
  • Abnormal intestine morphologyHP:0002242
  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the genital systemHP:0000078
  • Abnormality of the kneeHP:0002815
  • Abnormality of the liverHP:0001392
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of the spleenHP:0001743
  • Abnormality of the ureterHP:0000069
  • Abnormality of the urinary systemHP:0000079
  • Anal atresiaHP:0002023
  • Anorectal anomalyHP:0012732
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • Cerebral cortical atrophyHP:0002120
  • Congenital diaphragmatic herniaHP:0000776
  • Facial asymmetryHP:0000324
  • Gastroesophageal refluxHP:0002020
  • Gingival overgrowthHP:0000212
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • Limbal dermoidHP:0001140
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Missing ribsHP:0000921
  • OligohydramniosHP:0001562
  • OmphaloceleHP:0001539
  • Preauricular skin tagHP:0000384
  • Premature birthHP:0001622
  • Renal cystHP:0000107
  • Renal hypoplasia/aplasiaHP:0008678
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Vertebral segmentation defectHP:0003422

Frequent (79-30%)(5)

  • Abnormal localization of kidneyHP:0100542
  • Abnormality of the nervous systemHP:0000707
  • ConstipationHP:0002019
  • HydronephrosisHP:0000126
  • Tracheoesophageal fistulaHP:0002575