| Metadata | |
|---|---|
| ID | DOID:0111399 |
| Name | congenital dyserythropoietic anemia type IIIa |
| Definition | A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23. https://www.ncbi.nlm.nih.gov/pubmed/7711721 |
| Xrefs |
SNOMEDCT_US_2023_03_01:26409005 |
| Subsets |
DO_rare_slim |
| Synonyms |
anaemia with multinucleated erythroblasts [EXACT] anemia with multinucleated erythroblasts [EXACT] CDA III [EXACT] CDA type 3 [EXACT] CDA type III [EXACT] CDAN3 [EXACT] Congenital dyserythropoietic anaemia type 3 [EXACT] congenital dyserythropoietic anaemia type III [EXACT] Congenital dyserythropoietic anemia type 3 [EXACT] hereditary benign erythroreticulosis [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 |