← 返回搜尋

Dentinogenesis imperfecta

ORPHA:49042 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(2)

  • Abnormal dental root morphologyHP:0006486
  • Pulp obliterationHP:0006350

Frequent (79-30%)(9)

  • Abnormal dental pulp morphologyHP:0006479
  • Abnormal dentin morphologyHP:0010299
  • Fragile teethHP:0025124
  • Generalized hypoplasia of dental enamelHP:0006282
  • Grayish enamelHP:0000683
  • Hypocalcification of dental enamelHP:0011084
  • Joint hypermobilityHP:0001382
  • OdontodysplasiaHP:0000694
  • Yellow-brown discoloration of the teethHP:0006286

Occasional (29-5%)(7)

  • Bruising susceptibilityHP:0000978
  • Finger joint hypermobilityHP:0006094
  • Hyperextensibility at elbowHP:0010485
  • Knee joint hypermobilityHP:0045086
  • Persistence of primary teethHP:0006335
  • Selective tooth agenesisHP:0001592
  • Short dental rootHP:0006336

Very rare (<4-1%)(3)

  • Blue scleraeHP:0000592
  • Hearing impairmentHP:0000365
  • Prolonged bleeding timeHP:0003010