| Metadata | |
|---|---|
| ID | DOID:0111400 |
| Name | congenital dyserythropoietic anemia type IV |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719453009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CDA due to KLF1 mutation [EXACT] CDA IV [EXACT] CDA type 4 [EXACT] CDA type IV [EXACT] CDAN4 [EXACT] Congenital dyserythropoietic anaemia due to KLF1 mutation [EXACT] Congenital dyserythropoietic anaemia type 4 [EXACT] congenital dyserythropoietic anaemia type IV [EXACT] Congenital dyserythropoietic anemia due to KLF1 mutation [EXACT] Congenital dyserythropoietic anemia type 4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |