{"orpha":70474,"name":"Leigh syndrome with cardiomyopathy","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency","Cardiomyopathy with myopathy due to COX deficiency","Leigh disease with myopathy"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leigh syndrome","url":"https://raremap.alftech.space/d/ORPHA-70474/","orphanet_url":"https://www.orpha.net/en/disease/detail/70474","names":{"fr":{"name":"Syndrome de Leigh avec cardiomyopathie","synonyms":["Cardiomyopathie avec hypotonie par déficit en cytochrome C oxydase","Cardiomyopathie avec myopathie par déficit en COX","Maladie de Leigh avec myopathie"]},"de":{"name":"Leigh-Syndrom - Kardiomyopathie","synonyms":["Kardiomyopathie mit Hypotonie durch Cytochrome-C-Oxidase-Mangel","Kardiomyopathie mit Myopathie durch COX-Mangel","Leigh-Syndrom mit Myopathie"]},"es":{"name":"Síndrome de Leigh con miocardiopatía","synonyms":["Cardiomiopatía con hipotonía por deficiencia de citocromo C oxidasa","Enfermedad de Leigh con miopatía","Miocardiopatía con hipotonía por deficiencia de citocromo C oxidasa","Miocardiopatía con miopatía por deficiencia de COX"]},"it":{"name":"Sindrome di Leigh con cardiomiopatia","synonyms":["Cardiomiopatia con ipotonia da deficit di citocromo C ossidasi","Cardiomiopatia con miopatia da deficit di COX","Malattia di Leigh con miopatia"]},"nl":{"name":"Syndroom van Leigh met cardiomyopathie","synonyms":["Cardiomyopathie met hypotonie als gevolg van cytochroom C-oxidasedeficiëntie","Cardiomyopathie met myopathie als gevolg van COX-deficiëntie","Ziekte van Leigh met myopathie"]},"pt":{"name":"Síndrome Leigh com miocardiopatia","synonyms":["Miocardiopatia com hipotonia por deficiência de citocromo C oxidase","Miocardiopatia com miopatia por deficiência de COX"]},"pl":{"name":"Zespół Leigha z kardiomiopatią","synonyms":["Choroba Leigha z miopatią","Kardiomiopatia z hipotonią spowodowana niedoborem oksydazy cytochromu C","Kardiomiopatia z miopatią spowodowana niedoborem COX"]},"cs":{"name":"Leighův syndrom s kardiomyopatií","synonyms":["Leighova choroba s myopatií","Kardiomyopatie s hypotonií na podkladě deficitu cytochrom C oxidázy","Kardiomyopatie s myopatií na podkladě deficitu COX"]},"uk":{"name":"Синдром Лі з кардіоміопатією","synonyms":["Кардіоміопатія з гіпотензією внаслідок дефіциту цитохрому С оксидази","Кардіоміопатія з міопатією внаслідок дефіциту COX","Хвороба Лі з міопатією"]},"zh":{"name":"利氏综合征伴心肌病","synonyms":["细胞色素C氧化酶缺乏所致心肌病伴发肌病"]},"tr":{"name":"Kardiyomiyopati ile seyreden Leigh sendromu","synonyms":["Miyopatili Leigh hastalığı","COX eksikliğine bağlı miyopatili kardiyomiyopati","Sitokrom C oksidaz eksikliğine bağlı hipotoni ile seyreden kardiyomiyopati"]}},"xrefs":[{"source":"UMLS","code":"C5680116","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":506,"name":"Leigh syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}