congenital dyserythropoietic anemia type II (DOID:0111401)
Alliance: disease page
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
Alt IDs: OMIM:224100, MESH:D000742, NCI:C175991, ORDO:98873, UMLS_CUI:C1306589
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.