Term Name: | congenital dyserythropoietic anemia type II |
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Synonyms: | CDA II, CDA type 2, CDA type II, CDAN2, Congenital dyserythropoietic anaemia type 2, congenital dyserythropoietic anaemia type II, Congenital dyserythropoietic anemia type 2, Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas), SEC23B-CDG |
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. |
Ontology: | Human Disease [DOID:0111401] ( DOID:0111401 ) |