Term Name: congenital dyserythropoietic anemia type II
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 )

Relationships
is a type of: autosomal recessive disease congenital dyserythropoietic anemia