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DO Term : congenital dyserythropoietic anemia type IVa [DOID:0111400] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
  • synonyms:
  • CDA due to KLF1 mutation,
  • Congenital dyserythropoietic anemia type 4,
  • OMIM:613673,
  • ORDO:293825,
  • congenital dyserythropoietic anaemia type IV,
  • CDAN4,
  • CDA type 4,
  • CDA IV,
  • NCI:C157148,
  • Congenital dyserythropoietic anemia due to KLF1 mutation,
  • Congenital dyserythropoietic anaemia due to KLF1 mutation,
  • SNOMEDCT_US_2023_03_01:719453009,
  • Congenital dyserythropoietic anaemia type 4,
  • CDA type IV,
  • 613673,
  • UMLS_CUI:C3150926
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