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Retinoblastoma

ORPHA:790 · Disease · Disorder

HPO 表現型（共 27 項）

Obligate (100%)(1)

  • RetinoblastomaHP:0009919

Frequent (79-30%)(5)

  • GlaucomaHP:0000501
  • HypopyonHP:0031615
  • LeukocoriaHP:0000555
  • ProptosisHP:0000520
  • StrabismusHP:0000486

Occasional (29-5%)(17)

  • Abnormal eye morphologyHP:0012372
  • Abnormal retinal pigmentationHP:0007703
  • CellulitisHP:0100658
  • Heterochromia iridisHP:0001100
  • HyphemaHP:0011886
  • LeiomyosarcomaHP:0100243
  • LeukemiaHP:0001909
  • LymphomaHP:0002665
  • MelanomaHP:0002861
  • OsteosarcomaHP:0002669
  • Red eyeHP:0025337
  • Reduced visual acuityHP:0007663
  • Retinal calcificationHP:0007862
  • RhabdomyosarcomaHP:0002859
  • Sub-retinal pigment epithelium haemorrhageHP:0025244
  • UveitisHP:0000554
  • Vitreous hemorrhageHP:0007902

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

  • Cleft palateHP:0000175
  • Ewing sarcomaHP:0012254
  • GliomaHP:0009733
  • PineoblastomaHP:0030408