{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","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-522522/","orphanet_url":"https://www.orpha.net/en/disease/detail/522522","names":{"fr":{"name":"Maladie génétique rare neuromusculaire avec anomalie de motilité ou d'alignement oculaire"},"de":{"name":"Seltene genetische neuromuskuläre Störung der okulären Ausrichtung und Beweglichkeit"},"es":{"name":"Trastorno genético neuromuscular raro con anomalía de la movilidad/alineamiento ocular"},"it":{"name":"Patologia neuromuscolare genetica rara con anomalie della motilità/allineamento oculare"},"nl":{"name":"Zeldzame genetische neuromusculaire aandoening met anomalie van beweging/stand van oog"},"pt":{"name":"Doença neuromuscular genética rara com anomalia do alinhamento/mobilidade ocular"},"pl":{"name":"Rzadka choroba nerwowo-mięśniowa uwarunkowana genetycznie z zaburzeniami ruchomości gałki ocznej/nieprawidłowym ustawieniem gałek ocznych"},"cs":{"name":"Vzácná genetická neuromuskulární porucha s anomálií oční motility/postavení očí"},"uk":{"name":"Рідкісне генетично обумовлене нервово-мязове захворювання з аномалією руху/вирівнювання очей"},"zh":{"name":"罕见遗传性神经肌肉疾病伴眼球运动/对准异常"},"tr":{"name":"Oküler motilite/hizalanma anomalisi ile seyreden nadir genetik nöromüsküler bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":522516,"name":"Rare genetic ocular motility/alignment disorder","classifications":[156]}],"children":[{"orpha":329336,"name":"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","type":"Disease"},{"orpha":363677,"name":"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia","type":"Disease"},{"orpha":590,"name":"Congenital myasthenic syndrome","type":"Disease"},{"orpha":98896,"name":"Duchenne muscular dystrophy","type":"Disease"},{"orpha":399,"name":"Huntington disease","type":"Disease"},{"orpha":248111,"name":"Juvenile Huntington disease","type":"Disease"},{"orpha":480,"name":"Kearns-Sayre syndrome","type":"Disease"},{"orpha":298,"name":"Mitochondrial neurogastrointestinal encephalomyopathy","type":"Disease"},{"orpha":1876,"name":"Oculogastrointestinal muscular dystrophy","type":"Disease"},{"orpha":270,"name":"Oculopharyngeal muscular dystrophy","type":"Disease"},{"orpha":98897,"name":"Oculopharyngodistal myopathy","type":"Disease"},{"orpha":2743,"name":"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome","type":"Malformation syndrome"},{"orpha":520820,"name":"Progressive external ophthalmoplegia","type":"Category"},{"orpha":352447,"name":"Progressive external ophthalmoplegia-myopathy-emaciation syndrome","type":"Disease"},{"orpha":273,"name":"Steinert myotonic dystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}