{"orpha":156177,"name":"Retinal ciliopathy due to mutation in Usher 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-156177/","orphanet_url":"https://www.orpha.net/en/disease/detail/156177","names":{"fr":{"name":"Ciliopathie rétinienne due à une mutation du gène Usher"},"de":{"name":"Ziliopathie, retinale, durch Mutationen im Usher-Gen"},"es":{"name":"Ciliopatía retiniana por una mutación en el gen Usher","synonyms":["Ciliopatía retinal por una mutación en el gen Usher"]},"it":{"name":"Ciliopatia retinica da mutazione del gene di Usher"},"nl":{"name":"Retinale ciliopathie door mutatie in Usher-gen"},"pt":{"name":"Ciliopatia retiniana por mutação no gene do síndrome de Usher"},"pl":{"name":"Rzęskopatia siatkówki z powodu mutacji w genie Ushera"},"cs":{"name":"Ciliopatie sítnice způsobená mutací v Usherově genu"},"uk":{"name":"Циліопатія сітківки внаслідок мутації в гені Ашера"},"zh":{"name":"Usher基因突变所致视网膜睫状体病"},"tr":{"name":"Usher genindeki mutasyona bağlı retina siliyopati"}},"xrefs":[{"source":"UMLS","code":"C5680671","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":886,"name":"Usher syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}