{"orpha":217591,"name":"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy","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-217591/","orphanet_url":"https://www.orpha.net/en/disease/detail/217591","names":{"fr":{"name":"Anomalie de l'oxydation des acides gras et de la cétogenèse avec cardiomyopathie hypertrophique"},"de":{"name":"Fettsäureoxidationsstörung und Ketogenese-Defekt mit hypertropher Kardiomyopathie"},"es":{"name":"Trastorno de la cetogénesis y de la oxidación de los ácidos grasos con miocardiopatía hipertrófica"},"it":{"name":"Difetto dell'ossidazione degli acidi grassi e della chetogenesi con cardiomiopatia ipertrofica"},"nl":{"name":"Vetzuuroxidatie- en ketogenesestoornis met hypertrofische cardiomyopathie"},"pt":{"name":"Doença da oxidação dos ácidos gordos e cetogénese com miocardiopatia hipertrófica"},"pl":{"name":"Zaburzenie oksydacji kwasów tłuszczowych i ketogenezy z kardiomiopatią przerostową"},"cs":{"name":"Poruchy oxidace mastných kyselin a ketogeneze s hypertrofickou kardiomyopatií"},"uk":{"name":"Порушення окислення жирних кислот та кетогенезу з гіпертрофічною кардіоміопатією"},"zh":{"name":"脂肪酸氧化和生酮障碍伴肥厚型心肌病"},"tr":{"name":"Hipertrofik kardiyomiyopati ile seyreden yağ asidi oksidasyonu ve ketogenez bozukluğu"}},"xrefs":[{"source":"MONDO","code":"16328","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680880","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":99739,"name":"Rare familial disorder with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[{"orpha":99901,"name":"Acyl-CoA dehydrogenase 9 deficiency","type":"Disease"},{"orpha":159,"name":"Carnitine-acylcarnitine translocase deficiency","type":"Disease"},{"orpha":5,"name":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","type":"Disease"},{"orpha":746,"name":"Mitochondrial trifunctional protein deficiency","type":"Disease"},{"orpha":26791,"name":"Multiple acyl-CoA dehydrogenase deficiency","type":"Disease"},{"orpha":26793,"name":"Very long chain acyl-CoA dehydrogenase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}