{"orpha":308520,"name":"Glycogen storage disease due to glycogen synthase deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["GSD due to glycogen synthase deficiency","Glycogenosis due to glycogen synthase deficiency"],"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-308520/","orphanet_url":"https://www.orpha.net/en/disease/detail/308520","names":{"fr":{"name":"Glycogènose par déficit en glycogène synthase","synonyms":["GSD par déficit en glycogène synthase"]},"de":{"name":"Glykogen-Speicherkrankheit durch Glykogen-Synthase-Mangel","synonyms":["GSD durch Glykogen-Synthase-Mangel","Glykogenose Glykogen-Synthase-Mangel"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno sintasa","synonyms":["GSD por deficiencia de glucógeno sintasa","Glucogenosis por deficiencia de glucógeno sintasa"]},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi","synonyms":["GSD da deficit di glicogeno sintasi","Glcogenosi da deficit di glicogeno sintasi"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glycogeensynthase","synonyms":["GSD door deficiëntie van glycogeensynthase","Glycogenose door deficiëntie van glycogeensynthase"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de glicogénio sintetase","synonyms":["Glicogenose por deficiência de glicogénio sintetase"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru syntazy glikogenu","synonyms":["Glikogenoza z powodu niedoboru syntazy glikogenu","GSD z powodu niedoboru syntazy glikogenu"]},"cs":{"name":"Glykogenóza způsobená deficitem glykogensyntázy","synonyms":["GSD způsobená deficitem glykogensyntázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом глікогенсинтетази","synonyms":["Глікогеноз внаслідок дефіциту глікогенсинтетази","GSD через дефіцит глікогенсинтетази"]},"zh":{"name":"糖原合成酶缺乏致糖原贮积病","synonyms":["糖原合成酶缺乏所致糖原贮积病"]},"tr":{"name":"Glikojen sentaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["Glikojen sentaz eksikliğine bağlı GSD","Glikojen sentaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"MONDO","code":"17693","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679973","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]}],"children":[{"orpha":2089,"name":"Glycogen storage disease due to hepatic glycogen synthase 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}