Search Ontology:
Human Disease
congenital dyserythropoietic anemia type IV
- Term ID
- DOID:0111400
- Synonyms
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- 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
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- MIM:613673
- NCI:C157148
- ORDO:293825
- SNOMEDCT_US_2023_03_01:719453009
- UMLS_CUI:C3150926
- Ontology
- Human Disease ( DOID:0111400 )
- is a type of
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Genes Involved
Zebrafish Models