{"orpha":156180,"name":"Retinal ciliopathy due to mutation in nephronophthisis gene","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-156180/","orphanet_url":"https://www.orpha.net/en/disease/detail/156180","names":{"fr":{"name":"Ciliopathie rétinienne due à une mutation du gène néphronophtise"},"de":{"name":"Ziliopathie, retinale, durch Mutationen im Nephronophthise-Gen"},"es":{"name":"Ciliopatía retiniana por una mutación en el gen nefronoptisis","synonyms":["Ciliopatía retinal por una mutación en el gen nefronoptisis"]},"it":{"name":"Ciliopatia retinica da mutazione del gene della nefronoftisi"},"nl":{"name":"Retinale ciliopathie door mutatie in nefronoftise-gen"},"pt":{"name":"Ciliopatia retiniana por mutação no gene da nefronoptise"},"pl":{"name":"Rzęskopatia siatkówki z powodu mutacji w genie nefronoftyzy"},"cs":{"name":"Ciliopatie sítnice způsobená mutací v genech podmiňujících nefronoftýzu"},"uk":{"name":"Циліопатія сітківки внаслідок мутації в гені нефронофтісу"},"zh":{"name":"肾消耗病基因突变所致视网膜睫状体病"},"tr":{"name":"Nefronoftiz genindeki mutasyona bağlı retina siliyopati"}},"xrefs":[{"source":"UMLS","code":"C5680666","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]}],"children":[{"orpha":110,"name":"Bardet-Biedl syndrome","type":"Disease"},{"orpha":220497,"name":"Joubert syndrome with renal defect","type":"Clinical subtype"},{"orpha":3032,"name":"NPHP3-related Meckel-like syndrome","type":"Malformation syndrome"},{"orpha":655,"name":"Nephronophthisis","type":"Disease"},{"orpha":294415,"name":"Renal-hepatic-pancreatic dysplasia","type":"Malformation syndrome"},{"orpha":3156,"name":"Senior-Loken syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}