{"orpha":99739,"name":"Rare familial disorder with hypertrophic cardiomyopathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare familial disorder with hypertrophic obstructive cardiomyopathy","Rare familial disorder with hypertrophic subaortic stenosis"],"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-99739/","orphanet_url":"https://www.orpha.net/en/disease/detail/99739","names":{"fr":{"name":"Trouble familial rare avec cardiomyopathie hypertrophique","synonyms":["Trouble familial rare avec cardiomyopathie hypertrophique obstructive","Trouble familial rare avec myocardiopathie hypertrophique obstructive","Trouble familial rare avec rétrecissement sous-aortique hypertrophique","Trouble familial rare avec sténose sous-aortique hypertrophique"]},"de":{"name":"Seltene familiäre Störung mit hypertropher Kardiomyopathie","synonyms":["Seltene familiäre Störung mit hypertropher Subaortenstenose","Seltene familiäre Störung mit hypertropher obstruktiver Kardiomyopathie"]},"es":{"name":"Trastorno familiar raro con miocardiopatía hipertrófica","synonyms":["Trastorno familiar raro con estenosis subaórtica hipertrófica","Trastorno familiar raro con miocardiopatía obstructiva hipertrófica"]},"it":{"name":"Malattia familiare rara con cardiomiopatia ipertrofica","synonyms":["Malattia familiare rara con cardiomiopatia ostruttiva ipertrofica","Malattia familiare rara con stenosi subaortica ipertrofica"]},"nl":{"name":"Zeldzame familiale stoornis met hypertrofische cardiomyopathie","synonyms":["Zeldzame familiale stoornis met hypertrofische obstructieve cardiomyopathie","Zeldzame familiale stoornis met hypertrofische subaortastenose"]},"pt":{"name":"Miocardiopatia, familiar, hipertrófica"},"pl":{"name":"Rzadkie zaburzenie rodzinne z kardiomiopatią przerostową","synonyms":["Rzadkie zaburzenie rodzinne z kardiomiopatią przerostową zwężającą","Rzadkie zaburzenie rodzinne ze zwężeniem podaortalnym"]},"cs":{"name":"Vzácné familiární poruchy s hypertrofickou kardiomyopatií","synonyms":["Vzácné familiární poruchy s hypertrofickou subaortální stenózou","Vzácné familiární poruchy s hypertrofickou obstrukční kardiomyopatií"]},"uk":{"name":"Рідкісне сімейне захворювання з гіпертрофічною кардіоміопатією","synonyms":["Рідкісне сімейне захворювання з гіпертрофічною обструктивною кардіоміопатією","Рідкісне сімейне захворювання з гіпертрофічним субаортальним стенозом"]},"zh":{"name":"罕见家族性疾病伴发肥厚型心肌病","synonyms":["罕见家族性疾病合并肥厚梗阻性心肌病"]},"tr":{"name":"Hipertrofik kardiyomiyopati ile seyreden nadir ailesel bozukluk","synonyms":["Hipertrofik subaortik stenozlu nadir ailesel bozukluk","Hipertrofik obstrüktif kardiyomiyopatili nadir ailesel bozukluk"]}},"xrefs":[{"source":"MeSH","code":"D024741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680311","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":98054,"name":"Rare genetic cardiac disease","classifications":[156]},{"orpha":217569,"name":"Rare hypertrophic cardiomyopathy","classifications":[146,233]}],"children":[{"orpha":217591,"name":"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy","type":"Category"},{"orpha":217572,"name":"Glycogen storage disease with hypertrophic cardiomyopathy","type":"Category"},{"orpha":217581,"name":"Lysosomal disease with hypertrophic cardiomyopathy","type":"Category"},{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","type":"Category"},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}