{"orpha":217581,"name":"Lysosomal 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-217581/","orphanet_url":"https://www.orpha.net/en/disease/detail/217581","names":{"fr":{"name":"Maladie lysosomale avec cardiomyopathie hypertrophique"},"de":{"name":"Lysosomale Krankheit mit hypertropher Kardiomyopathie"},"es":{"name":"Enfermedad lisosomal con miocardiopatía hipertrófica"},"it":{"name":"Malattia lisosomiale con cardiomiopatia ipertrofica"},"nl":{"name":"Lysosomale ziekte met hypertrofische cardiomyopathie"},"pt":{"name":"Doença lisossomal com miocardiopatia hipertrófica"},"pl":{"name":"Choroba lizosomalna z kardiomiopatią przerostową"},"cs":{"name":"Lysozomální onemocnění s hypertrofickou kardiomyopatií"},"uk":{"name":"Лізосомна хвороба з гіпертрофічною кардіоміопатією"},"zh":{"name":"溶酶体病伴肥厚型心肌病"},"tr":{"name":"Hipertrofik kardiyomiyopati ile seyreden lizozomal hastalık"}},"xrefs":[{"source":"MONDO","code":"16326","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5397275","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":118,"name":"Beta-mannosidosis","type":"Disease"},{"orpha":324,"name":"Fabry disease","type":"Disease"},{"orpha":349,"name":"Fucosidosis","type":"Disease"},{"orpha":365,"name":"Glycogen storage disease due to acid maltase deficiency","type":"Disease"},{"orpha":93473,"name":"Hurler syndrome","type":"Clinical subtype"},{"orpha":93476,"name":"Hurler-Scheie syndrome","type":"Clinical subtype"},{"orpha":580,"name":"Mucopolysaccharidosis type 2","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}