{"orpha":156183,"name":"Retinal ciliopathy due to mutation in Bardet-Biedl 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-156183/","orphanet_url":"https://www.orpha.net/en/disease/detail/156183","names":{"fr":{"name":"Ciliopathie rétinienne due à une mutation du gène Bardet-Biedl"},"de":{"name":"Ziliopathie, retinale, durch BBS-Genmutation"},"es":{"name":"Ciliopatía retiniana por una mutación en el gen Bardet-Biedl","synonyms":["Ciliopatía retinal por una mutación en el gen Bardet-Biedl"]},"it":{"name":"Ciliopatia retinica da mutazione del gene di Bardet-Biedl"},"nl":{"name":"Retinale ciliopathie door mutatie in Bardet-Biedl-gen"},"pt":{"name":"Ciliopatia retiniana por mutação no gene de Bardet-Biedl"},"pl":{"name":"Rzęskopatia siatkówki z powodu mutacji w genie Bardeta i Biedla"},"cs":{"name":"Ciliopatie sítnice kvůli mutaci v Bardetově-Biedlově genu","synonyms":["Ciliopatie sítnice kvůli mutaci v Bardet-Biedlově genu"]},"uk":{"name":"Циліопатія сітківки внаслідок мутації в гені Барде-Бідля"},"zh":{"name":"Bardet-Biedl基因突变所致视网膜睫状体病"},"tr":{"name":"Bardet-Biedl genindeki mutasyona bağlı retina siliyopati"}},"xrefs":[{"source":"UMLS","code":"C5680667","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":2377,"name":"Laurence-Moon syndrome","type":"Malformation syndrome"},{"orpha":2473,"name":"McKusick-Kaufman syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}