eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | anemia, blackfan diamond |
| Comorbidity | C0002871|anaemia |
| Sentences | 1 |
| PubMedID- 24823650 | Haploinsufficiency of hrps14 is a causal factor in myelodysplastic syndrome (mds) and 5q syndrome, a genetic disorder related to diamond blackfan anemia that leads to severe anaemia, macrocytosis, and an increased risk of leukaemia [21],[22]. |
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