eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | thiamine-responsive megaloblastic anemia syndrome |
| Comorbidity | C0011847|diabetes |
| Sentences | 2 |
| PubMedID- 22525690 | Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the trma syndrome. |
| PubMedID- 20835854 | Thiamine-responsive megaloblastic anemia (trma) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in slc19a2, encoding a thiamine transporter protein. |
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