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

• GARD:2001
• MESH:D000742
• NCI:C175991
• OMIM:224100
• ORDO:98873
• SNOMEDCT_US_2023_03_01:68870007
• UMLS_CUI:C1306589

Ontology

Human Disease   ( DOID:0111401 )