{"orpha":217572,"name":"Glycogen storage disease with hypertrophic cardiomyopathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["GSD with hypertrophic cardiomyopathy","Glycogenosis with hypertrophic cardiomyopathy"],"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-217572/","orphanet_url":"https://www.orpha.net/en/disease/detail/217572","names":{"fr":{"name":"Maladie de stockage du glycogène avec cardiomyopathie hypertrophique","synonyms":["GSD avec cardiomyopathie hypertrophique","Glycogénose avec cardiomyopathie hypertrophique"]},"de":{"name":"Glykogen-Speicherkrankheit mit hypertropher Kardiomyopathie","synonyms":["GSD mit hypertropher Kardiomyopathie","Glykogenose mit hypertropher Kardiomyopathie"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno con miocardiopatía hipertrófica"},"it":{"name":"Malattia da accumulo di glicogeno con cardiomiopatia ipertrofica","synonyms":["GSD con cardiomiopatia ipertrofica","Glicogenosi con cardiomiopatia ipertrofica"]},"nl":{"name":"Glycogeenstapelingsziekte met hypertrofische cardiomyopathie","synonyms":["GSD met hypertrofische cardiomyopathie","Glycogenose met hypertrofische cardiomyopathie"]},"pt":{"name":"Doença do armazenamento de glicogénio com miocardiopatia hipertrófica","synonyms":["Glicogenose com miocardiopatia hipertrófica"]},"pl":{"name":"Choroba spichrzania glikogenu z kardiomiopatią przerostową","synonyms":["Glikogenoza z kardiomiopatią przerostową","GSD z kardiomiopatią przerostową"]},"cs":{"name":"Glykogenóza s hypertrofickou kardiomyopatií","synonyms":["GSD s hypertrofickou kardiomyopatií"]},"uk":{"name":"Хвороба накопичення глікогену з гіпертрофічною кардіоміопатією","synonyms":["Глікогеноз при гіпертрофічній кардіоміопатії","GSD з гіпертрофічною кардіоміопатією"]},"zh":{"name":"糖原贮积病伴肥厚型心肌病","synonyms":["糖原贮积症伴肥厚型心肌病"]},"tr":{"name":"Hipertrofik kardiyomiyopati ile seyreden glikojen depo hastalığı","synonyms":["Hipertrofik kardiyomiyopati ile seyreden GSD","Hipertrofik kardiyomiyopati ile seyreden glikojenoz"]}},"xrefs":[{"source":"MONDO","code":"16325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5397268","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":34587,"name":"Danon disease","type":"Disease"},{"orpha":439854,"name":"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease","type":"Disease"},{"orpha":365,"name":"Glycogen storage disease due to acid maltase deficiency","type":"Disease"},{"orpha":366,"name":"Glycogen storage disease due to glycogen debranching enzyme deficiency","type":"Disease"},{"orpha":137625,"name":"Glycogen storage disease due to muscle and heart glycogen synthase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}