congenital dyserythropoietic anemia type II

Summary

DOID:0111401 - congenital dyserythropoietic anemia type II

Disease Ontology 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.

Synonyms: CDA II, CDAN2, CDA type 2, CDA type II, 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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sec23b

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital dyserythropoietic anemia (is_a)