Search Ontology:
Human Disease

congenital dyserythropoietic anemia type II

Term ID
DOID:0111401
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. https://www.ncbi.nlm.nih.gov/pubmed/19561605
References
Ontology
Human Disease   ( DOID:0111401 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models