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Congenital dyserythropoietic anemia type III

ORPHA:98870 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(3)

  • AnemiaHP:0001903
  • AnisocytosisHP:0011273
  • PoikilocytosisHP:0004447

Frequent (79-30%)(8)

  • Abnormal cellular phenotypeHP:0025354
  • Abnormal erythroid lineage cell morphologyHP:0012130
  • Abnormal proerythroblast morphologyHP:0025035
  • Elevated circulating iron concentrationHP:0003452
  • FatigueHP:0012378
  • HyperbilirubinemiaHP:0002904
  • Increased mean corpuscular volumeHP:0005518
  • Increased total iron binding capacityHP:0025196

Occasional (29-5%)(8)

  • Abnormal erythrocyte morphologyHP:0001877
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Gingival bleedingHP:0000225
  • HeadacheHP:0002315
  • MelenaHP:0002249
  • Oral cavity bleedingHP:0030140
  • PallorHP:0000980
  • Post-partum hemorrhageHP:0011891

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

  • Short statureHP:0004322