eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | retinal degeneration |
| Comorbidity | C0022679|cystic kidney |
| Sentences | 3 |
| 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. |
| PubMedID- 24069149 | Nph is an autosomal recessive cystic kidney disease associated with retinal degeneration, cerebellar hypoplasia, liver fibrosis, situs inversus, and mental retardation [11], [12], [13]. |
| PubMedID- 21199495 | Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. |
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