{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical 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-522508/","orphanet_url":"https://www.orpha.net/en/disease/detail/522508","names":{"fr":{"name":"Maladie ophtalmique génétique rare avec atteinte corticale"},"de":{"name":"Seltene genetische Augenkrankheit mit kortikaler Beteiligung"},"es":{"name":"Trastorno genético oftalmológico raro con afectación cortical"},"it":{"name":"Malattia oftalmica genetica rara con coinvolgimento corticale"},"nl":{"name":"Zeldzame genetische oftalmische aandoening met betrokkenheid van hersenschors"},"pt":{"name":"Doença oftalmológica genética rara com envolvimento cortical"},"pl":{"name":"Rzadka choroba oka uwarunkowana genetycznie obejmująca korę mózgową"},"cs":{"name":"Vzácná genetická oční porucha s kortikálním postižením"},"uk":{"name":"Рідкісне генетично обумовлене офтальмологічне захворювання з ураженням кори головного мозку"},"zh":{"name":"罕见遗传性眼病伴皮质受累"},"tr":{"name":"Kortikal tutulumu ile seyreden nadir genetik oftalmik bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681437","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":363722,"name":"Alexander disease type II","type":"Clinical subtype"},{"orpha":2512,"name":"Autosomal recessive primary microcephaly","type":"Etiological subtype"},{"orpha":1389,"name":"Cortical blindness-intellectual disability-polydactyly syndrome","type":"Malformation syndrome"},{"orpha":411986,"name":"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":488613,"name":"Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":480898,"name":"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome","type":"Disease"},{"orpha":550,"name":"MELAS","type":"Disease"},{"orpha":457351,"name":"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","type":"Malformation syndrome"},{"orpha":98688,"name":"Oculomotor apraxia","type":"Category"},{"orpha":477814,"name":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","type":"Malformation syndrome"},{"orpha":488642,"name":"TELO2-related intellectual disability-neurodevelopmental disorder","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}