OBO ID: DOID:0111401
Term Name: congenital dyserythropoietic anemia type II Search Ontology:
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 SEC23B on chromosome 20p11.23. https://www.ncbi.nlm.nih.gov/pubmed/19561605
References:
Ontology: Human Disease   (DOID:0111401)
OTHER congenital dyserythropoietic anemia type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SEC23B Dyserythropoietic anemia, congenital, type II 224100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None