{"orpha":217638,"name":"Lysosomal disease with restrictive 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-217638/","orphanet_url":"https://www.orpha.net/en/disease/detail/217638","names":{"fr":{"name":"Maladie lysosomale avec cardiomyopathie restrictive"},"de":{"name":"Lysosomale Krankheit mit restriktiver Kardiomyopathie"},"es":{"name":"Enfermedad lisosomal con miocardiopatía restrictiva"},"it":{"name":"Malattia lisosomiale con cardiomiopatia restrittiva"},"nl":{"name":"Lysosomale ziekte met restrictieve cardiomyopathie"},"pt":{"name":"Doença lisossomal com miocardiopatia restritiva"},"pl":{"name":"Choroba lizosomalna z kardiomiopatią restrykcyjną"},"cs":{"name":"Lysozomální onemocnění s restriktivní kardiomyopatií"},"uk":{"name":"Лізосомна хвороба з рестриктивною кардіоміопатією"},"zh":{"name":"溶酶体病伴限制型心肌病"},"tr":{"name":"Restriktif kardiyomiyopatili lizozomal hastalık"}},"xrefs":[{"source":"MONDO","code":"16341","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680886","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217635,"name":"Familial restrictive cardiomyopathy","classifications":[146,156]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]}],"children":[{"orpha":324,"name":"Fabry disease","type":"Disease"},{"orpha":77259,"name":"Gaucher disease type 1","type":"Clinical subtype"},{"orpha":365,"name":"Glycogen storage disease due to acid maltase deficiency","type":"Disease"},{"orpha":93473,"name":"Hurler syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}