{"orpha":217587,"name":"Mitochondrial disease 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-217587/","orphanet_url":"https://www.orpha.net/en/disease/detail/217587","names":{"fr":{"name":"Maladie mitochondriale avec cardiomyopathie hypertrophique"},"de":{"name":"Mitochondriale Krankheit mit hypertropher Kardiomyopathie"},"es":{"name":"Enfermedad mitocondrial con miocardiopatía hipertrófica"},"it":{"name":"Malattia mitocondriale con cardiomiopatia ipertrofica"},"nl":{"name":"Mitochondriale ziekte met hypertrofische cardiomyopathie"},"pt":{"name":"Doença mitocondrial com miocardiopatia hipertrófica"},"pl":{"name":"Choroba mitochondrialna z kardiomiopatią przerostową"},"cs":{"name":"Mitochondriální choroba s hypertrofickou kardiomyopatií"},"uk":{"name":"Мітохондріальна хвороба з гіпертрофічною кардіоміопатією"},"zh":{"name":"线粒体疾病伴肥厚型心肌病"},"tr":{"name":"Hipertrofik kardiyomiyopati ile seyreden mitokondriyal hastalık"}},"xrefs":[{"source":"MONDO","code":"16327","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680879","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":656279,"name":"1p36.33 duplication syndrome","type":"Disease"},{"orpha":369913,"name":"Combined oxidative phosphorylation defect type 17","type":"Disease"},{"orpha":444013,"name":"Combined oxidative phosphorylation defect type 23","type":"Disease"},{"orpha":1369,"name":"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome","type":"Disease"},{"orpha":319678,"name":"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome","type":"Disease"},{"orpha":324525,"name":"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation","type":"Disease"},{"orpha":352563,"name":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","type":"Disease"},{"orpha":99718,"name":"Leber plus disease","type":"Disease"},{"orpha":550,"name":"MELAS","type":"Disease"},{"orpha":551,"name":"MERRF","type":"Disease"},{"orpha":1349,"name":"Mitochondrial DNA-related cardiomyopathy and hearing loss","type":"Malformation syndrome"},{"orpha":314637,"name":"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","type":"Disease"},{"orpha":457185,"name":"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome","type":"Disease"},{"orpha":496790,"name":"Ocular anomalies-axonal neuropathy-developmental delay syndrome","type":"Disease"},{"orpha":570491,"name":"QRSL1-related combined oxidative phosphorylation defect","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}