PedAM
Pediatric Disease Annotations & Medicines
| Disease | retinal degeneration |
| Phenotype | C0022679|cystic kidneys |
| Sentences | 1 |
| PubMedID- 25974046 | Nphp-associated ciliopathies comprise a group of autosomal recessive diseases including either isolated nphp or senior-løken, joubert, jeune and meckel-gruber syndromes, presenting fibrotic and cystic kidneys with retinal degeneration and skeletal and cerebellar/neural tube malformation. |
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