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Diamond-Blackfan anemia
Summary
- Synonym
-
- Blackfan - Diamond syndrome
- chronic constitutional pure red cell anaemia
- Definition
- A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
- Super Class
- congenital hypoplastic anemia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11172 | Uridine 5'-monophosphate synthase | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 |
