eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | coach syndrome |
| Symptom | C0239946|hepatic fibrosis |
| Sentences | 2 |
| PubMedID- 23351659 | Similarly, the distinction between coach syndrome (joubert syndrome with congenital hepatic fibrosis) and jbts is blurry. |
| PubMedID- 19574260 | Mutations in 3 genes (mks3, cc2d2a and rpgrip1l) cause coach syndrome (joubert syndrome with congenital hepatic fibrosis). |
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