eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hyperthermia |
| Comorbidity | C0002896|sideroblastic anemia |
| Sentences | 2 |
| PubMedID- 25806043 | Recently, a cohort of patients exhibiting sifd (sideroblastic anemia associated with immunodeficiency, periodic fevers and developmental delay) were reported to carry mutations in trnt1, with the range of clinical severity correlating with the degree of trnt1 loss of function (chakraborty et al., 2014). |
| PubMedID- 25193871 | Mutations in trnt1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (sifd). |
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