{"orpha":522510,"name":"Rare genetic ophthalmic disorder with cranial nerve involvement","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-522510/","orphanet_url":"https://www.orpha.net/en/disease/detail/522510","names":{"fr":{"name":"Maladie génétique rare ophtalmique avec atteinte des nerfs crâniens"},"de":{"name":"Seltene genetische Augenkrankheit mit Hirnnervenbeteiligung"},"es":{"name":"Trastorno genético oftalmológico raro con afectación del nervio craneal"},"it":{"name":"Malattia oftalmica genetica rara con coinvolgimento dei nervi cranici"},"nl":{"name":"Zeldzame genetische oftalmische aandoening met betrokkenheid van hersenzenuwen"},"pt":{"name":"Doença oftalmológica genética rara com envolvimento dos nervos cranianos"},"pl":{"name":"Rzadka choroba oka uwarunkowana genetycznie obejmująca nerw wzrokowy"},"cs":{"name":"Vzácná genetická oční porucha s postižením mozkového nervu"},"uk":{"name":"Рідкісне генетично обумовлене офтальмологічне захворювання з ураженням черепно-мозкових нервів"},"zh":{"name":"罕见遗传性眼病伴颅神经受累"},"tr":{"name":"Kraniyal sinir tutulumu ile seyreden nadir genetik oftalmik bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681435","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":183616,"name":"Genetic neuro-ophthalmological disease","classifications":[156]}],"children":[{"orpha":440233,"name":"Congenital abducens nerve palsy","type":"Disease"},{"orpha":231013,"name":"Congenital trigeminal anesthesia","type":"Disease"},{"orpha":397618,"name":"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome","type":"Disease"},{"orpha":522512,"name":"Rare genetic optic nerve disorder","type":"Category"},{"orpha":98685,"name":"Rare oculomotor nerve disorder","type":"Category"},{"orpha":519353,"name":"Rare trochlear nerve disorder","type":"Category"},{"orpha":64686,"name":"Tolosa-Hunt syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}