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

• NCI:C157148
• OMIM:613673
• ORDO:293825
• SNOMEDCT_US_2023_03_01:719453009
• UMLS_CUI:C3150926

Ontology

Human Disease   ( DOID:0111400 )