OBO ID: DOID:0111400
Term Name: congenital dyserythropoietic anemia type IV Search Ontology:
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 KLF1 on chromosome 19p13.13. https://www.ncbi.nlm.nih.gov/pubmed/21055716
References:
  • NCI:C157148
  • OMIM:613673
  • ORDO:293825
  • SNOMEDCT_US_2022_09_01:719453009
  • UMLS_CUI:C3150926
Ontology: Human Disease   (DOID:0111400)
OTHER congenital dyserythropoietic anemia type IV PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KLF1 Dyserythropoietic anemia, congenital, type IV 613673
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None