| Metadata | |
|---|---|
| ID | DOID:0111401 |
| Name | congenital dyserythropoietic anemia type II |
| Definition | A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. https://www.ncbi.nlm.nih.gov/pubmed/19561605 |
| Xrefs |
SNOMEDCT_US_2023_03_01:68870007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CDA II [EXACT] CDA type 2 [EXACT] CDA type II [EXACT] CDAN2 [EXACT] Congenital dyserythropoietic anaemia type 2 [EXACT] congenital dyserythropoietic anaemia type II [EXACT] Congenital dyserythropoietic anemia type 2 [EXACT] Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) [EXACT] SEC23B-CDG [EXACT] |
| Parent Relationships |