RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 SEC23B on chromosome 20p11.23. (DO)
Synonyms:
exact_synonym:
CDA II; CDA type 2; CDA type II; CDAN2; Dyserythropoietic Anemia, HEMPAS Type; HEMPAS; HEMPAS anemia; HEMPAS anemias; SEC23B-CDG; congenital dyserythropoietic anaemia type 2; congenital dyserythropoietic anaemia type II; congenital dyserythropoietic anemia, type 2; hereditary erythroblast multinuclearity with positive acidified serum; hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); hereditary erythroblastic multinuclearity with positive acidified-serum test