{"orpha":156168,"name":"Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Retinal ciliopathy due to mutation in RP1 gene"],"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-156168/","orphanet_url":"https://www.orpha.net/en/disease/detail/156168","names":{"fr":{"name":"Ciliopathie rétinienne due à une mutation du gène retinitis pigmentosa-1"},"de":{"name":"Ziliopathie, retinale, durch RP1 (retinitis pigmentosa-1)-Genmutation"},"es":{"name":"Ciliopatía retiniana por una mutación en el gen de la retinosis pigmentaria-1","synonyms":["Ciliopatía retinal por una mutación en el gen de la retinosis pigmentaria-1"]},"it":{"name":"Ciliopatia retinica da mutazione del gene della retinite pigmentosa-1","synonyms":["Ciliopatia retinica da mutazione del gene RP1","Ciliopatia retinica dovuta a mutazione del gene RP1"]},"nl":{"name":"Retinale ciliopathie door mutatie in retinitis pigmentosa-1-gen","synonyms":["Retinale ciliopathie door mutatie in RP1-gen"]},"pt":{"name":"Ciliopatia retiniana por mutação no gene da retinite pigmentosa-1","synonyms":["RP1"]},"pl":{"name":"Rzęskopatia siatkówki z powodu mutacji w genie zwyrodnienia barwnikowego siatkówki-1","synonyms":["Rzęskopatia siatkówki z powodu mutacji w genie RP1"]},"cs":{"name":"Ciliopatie sítnice způsobená mutací v retinitis pigmentosa-1 genu","synonyms":["Ciliopatie sítnice způsobená mutací v RP1 genu"]},"uk":{"name":"Циліопатія сітківки внаслідок мутації в гені пігментної дегенерації сітківки-1","synonyms":["Циліопатія сітківки внаслідок мутації в гені RP1"]},"zh":{"name":"视网膜色素变性-1基因突变所致视网膜睫状体病","synonyms":["RP1基因突变所致视网膜睫状体病变"]},"tr":{"name":"Retinitis pigmentosa-1 genindeki mutasyona bağlı retina siliyopati","synonyms":["RP1 genindeki mutasyona bağlı retina siliyopati"]}},"xrefs":[{"source":"UMLS","code":"C5679609","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":791,"name":"Retinitis pigmentosa","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}