{"orpha":156165,"name":"Retinal ciliopathy","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-156165/","orphanet_url":"https://www.orpha.net/en/disease/detail/156165","names":{"fr":{"name":"Ciliopathie rétinienne"},"de":{"name":"Ziliopathie, retinale"},"es":{"name":"Ciliopatía retiniana","synonyms":["Ciliopatía retinal"]},"it":{"name":"Ciliopatia retinica"},"nl":{"name":"Retinale ciliopathie"},"pt":{"name":"Ciliopatia retiniana"},"pl":{"name":"Rzęskopatia siatkówki"},"cs":{"name":"Ciliopatie sítnice"},"uk":{"name":"Циліопатія сітківки"},"zh":{"name":"视网膜睫状体病"},"tr":{"name":"Retina siliopatisi"}},"xrefs":[{"source":"MONDO","code":"0022410","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]}],"children":[{"orpha":64,"name":"Alström syndrome","type":"Disease"},{"orpha":289,"name":"Ellis-Van Creveld syndrome","type":"Malformation syndrome"},{"orpha":474,"name":"Jeune syndrome","type":"Malformation syndrome"},{"orpha":1454,"name":"Joubert syndrome with hepatic defect","type":"Clinical subtype"},{"orpha":220493,"name":"Joubert syndrome with ocular anomaly","type":"Clinical subtype"},{"orpha":75858,"name":"MORM syndrome","type":"Disease"},{"orpha":564,"name":"Meckel syndrome","type":"Malformation syndrome"},{"orpha":156183,"name":"Retinal ciliopathy due to mutation in Bardet-Biedl gene","type":"Category"},{"orpha":156177,"name":"Retinal ciliopathy due to mutation in Usher gene","type":"Category"},{"orpha":156180,"name":"Retinal ciliopathy due to mutation in nephronophthisis gene","type":"Category"},{"orpha":156171,"name":"Retinal ciliopathy due to mutation in the RPGR gene","type":"Category"},{"orpha":156174,"name":"Retinal ciliopathy due to mutation in the RPGRIP gene","type":"Category"},{"orpha":156168,"name":"Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene","type":"Category"},{"orpha":3085,"name":"Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome","type":"Malformation syndrome"},{"orpha":506307,"name":"Stromme syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}