← 返回搜尋

Dermatoosteolysis, Kirghizian type

ORPHA:1657 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(19)

  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal foot morphologyHP:0001760
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormality of the handHP:0001155
  • Abnormality of the wristHP:0003019
  • Aplasia/Hypoplasia of the skinHP:0008065
  • ArthralgiaHP:0002829
  • BrachydactylyHP:0001156
  • Dystrophic fingernailsHP:0008391
  • Dystrophic toenailHP:0001810
  • FeverHP:0001945
  • KeratitisHP:0000491
  • NyctalopiaHP:0000662
  • OligodontiaHP:0000677
  • OsteoarthritisHP:0002758
  • OsteolysisHP:0002797
  • ScoliosisHP:0002650
  • Skin ulcerHP:0200042
  • Tarsal synostosisHP:0008368

Frequent (79-30%)(1)

  • Abnormal nail morphologyHP:0001597

Occasional (29-5%)(1)

  • Abnormality of the dentitionHP:0000164