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Laryngo-onycho-cutaneous syndrome

ORPHA:2407 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(2)

  • Skin ulcerHP:0200042
  • Subglottic stenosisHP:0001607

Frequent (79-30%)(16)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal periungual morphologyHP:0100803
  • Carious teethHP:0000670
  • Corneal erosionHP:0200020
  • Corneal ulcerationHP:0012804
  • Delayed eruption of teethHP:0000684
  • Enamel hypoplasiaHP:0006297
  • Exuberant granulation tissueHP:6000956
  • Fragile skinHP:0001030
  • Hoarse voiceHP:0001609
  • Inspiratory stridorHP:0005348
  • MicrodontiaHP:0000691
  • Nail dystrophyHP:0008404
  • Oral mucosal blistersHP:0200097
  • Skin erosionHP:0200041
  • SymblepharonHP:0430007

Occasional (29-5%)(4)

  • Abnormal vocal cord morphologyHP:0008777
  • EpistaxisHP:0000421
  • Hypochromic microcytic anemiaHP:0004840
  • Visual impairmentHP:0000505