About   Help   FAQ
Disease Ontology Browser
congenital dyserythropoietic anemia type II (DOID:0111401)
Alliance: disease page
Synonyms: CDA II; CDA type 2; CDA type II; CDAN2; Congenital dyserythropoietic anemia type 2; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); SEC23B-CDG
Alt IDs: OMIM:224100, 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 SEC23B on chromosome 20p11.23.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/26/2019
MGI 6.14
The Jackson Laboratory