{"orpha":156174,"name":"Retinal ciliopathy due to mutation in the RPGRIP 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-156174/","orphanet_url":"https://www.orpha.net/en/disease/detail/156174","names":{"fr":{"name":"Ciliopathie rétinienne due à une mutation du gène RPGRIP"},"de":{"name":"Ziliopathie, retinale, durch RPGRIP-Genmutation"},"es":{"name":"Ciliopatía retiniana por una mutación en el gen RPGRIP","synonyms":["Ciliopatía retinal por una mutación en el gen RPGRIP"]},"it":{"name":"Ciliopatia retinica da mutazione del gene di RPGRIP"},"nl":{"name":"Retinale ciliopathie door mutatie in RPGRIP-gen"},"pt":{"name":"Ciliopatia retiniana por mutação no gene RPGRIP"},"pl":{"name":"Rzęskopatia siatkówki z powodu mutacji w genie RPGRIP"},"cs":{"name":"Ciliopatie sítnice způsobená mutací v RPGRIP genu"},"uk":{"name":"Циліопатія сітківки внаслідок мутації в гені RPGRIP"},"zh":{"name":"RPGRIP基因突变所致视网膜睫状体病"},"tr":{"name":"RPGRIP genindeki mutasyona bağlı retina siliyopati"}},"xrefs":[{"source":"UMLS","code":"C5680670","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":1872,"name":"Cone rod dystrophy","type":"Disease"},{"orpha":65,"name":"Leber congenital amaurosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}