eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | nephronophthisis |
| Symptom | C0035304|retinal degeneration |
| Sentences | 2 |
| PubMedID- 20081859 | Due to the genetic interaction of ahi1 and nphp1 in mouse, and the variable association of retinal degeneration (rd) with nephronophthisis (senior-løken syndrome, slsn33), we hypothesized that ahi1 p.r830w might contribute to the risk of retinopathy in nephronophthisis patients. |
| PubMedID- 20835237 | Specifically, in consanguineous family ss23/a1365 two siblings had senior-loken syndrome (slsn), the association of nephronophthisis with retinal degeneration. |
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