{"orpha":156171,"name":"Retinal ciliopathy due to mutation in the RPGR 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-156171/","orphanet_url":"https://www.orpha.net/en/disease/detail/156171","names":{"fr":{"name":"Ciliopathie rétinienne due à une mutation du gène RPGR"},"de":{"name":"Ziliopathie, retinale, durch RPGR-Genmutation"},"es":{"name":"Ciliopatía retiniana por una mutación en el gen RPGR","synonyms":["Ciliopatía retinal por una mutación en el gen RPGR"]},"it":{"name":"Ciliopatia retinica da mutazione del gene di RPGR"},"nl":{"name":"Retinale ciliopathie door mutatie in RPGR-gen"},"pt":{"name":"Ciliopatia retiniana por mutação no gene RPGR"},"pl":{"name":"Rzęskopatia siatkówki z powodu mutacji w genie RPGR"},"cs":{"name":"Ciliopatie sítnice způsobená mutací v RPGR genu"},"uk":{"name":"Циліопатія сітківки внаслідок мутації в гені RPGR"},"zh":{"name":"RPGR基因突变所致视网膜睫状体病"},"tr":{"name":"RPGR genindeki mutasyona bağlı retina siliyopati"}},"xrefs":[{"source":"UMLS","code":"C5680669","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":244,"name":"Primary ciliary dyskinesia","type":"Disease"},{"orpha":1871,"name":"Progressive cone dystrophy","type":"Disease"},{"orpha":791,"name":"Retinitis pigmentosa","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}