eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | bardet-biedl syndrome |
| Symptom | C0035304|retinal degeneration |
| Sentences | 2 |
| PubMedID- 25982971 | Predominantly cone-system dysfunction as rare form of retinal degeneration in patients with molecularly confirmed bardet-biedl syndrome. |
| PubMedID- 24068865 | For example, the role of caspase-12 in mice with bardet-biedl syndrome (bbs), which leads to severe retinal degeneration, was recently described . |
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