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congenital dyserythropoietic anemia type II
Summary
- Synonym
-
- CDA II
- CDA type 2
- CDA type II
- CDAN2
- Congenital dyserythropoietic anaemia type 2
- Congenital dyserythropoietic anemia type 2
- Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
- SEC23B-CDG
- congenital dyserythropoietic anaemia type II
- 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.
- Super Class
- autosomal recessive disease congenital dyserythropoietic anemia
External Links
- Disease Ontology
- DOID:0111401
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15437 | Protein transport protein Sec23B |
