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Congenital dyserythropoietic anemia type I

Disease definition

Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

ORPHA:98869

  • Synonym(s):
    • CDA I
    • CDA type 1
    • CDA type I
    • Congenital dyserythropoietic anemia type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D64.4
  • OMIM: 224120  615631
  • UMLS: C0271933
  • MeSH: -
  • GARD: 2000
  • MedDRA: -

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