Search Ontology:
Human Disease

congenital dyserythropoietic anemia type IV

Term ID
DOID:0111400
Synonyms
  • CDA due to KLF1 mutation
  • CDA IV
  • CDA type 4
  • CDA type IV
  • CDAN4
  • Congenital dyserythropoietic anaemia due to KLF1 mutation
  • Congenital dyserythropoietic anaemia type 4
  • congenital dyserythropoietic anaemia type IV
  • Congenital dyserythropoietic anemia due to KLF1 mutation
  • Congenital dyserythropoietic anemia type 4
Definition
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. https://www.ncbi.nlm.nih.gov/pubmed/21055716
References
  • MIM:613673
  • NCI:C157148
  • ORDO:293825
  • SNOMEDCT_US_2023_03_01:719453009
  • UMLS_CUI:C3150926
Ontology
Human Disease   ( DOID:0111400 )
Relationships
is a type of
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Genes Involved
Zebrafish Models