{"orpha":711,"name":"Glycogen storage disease due to phosphoglucomutase deficiency","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["GSD due to phosphoglucomutase deficiency","GSD type 14","GSDXIV","Glycogen storage disease type 14","Glycogen storage disease type XIV","Glycogenosis due to phosphoglucomutase deficiency","Glycogenosis type 14","Glycogenosis type XIV","Phosphoglucomutase 1 deficiency"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PGM1-CDG","url":"https://raremap.alftech.space/d/ORPHA-711/","orphanet_url":"https://www.orpha.net/en/disease/detail/711","names":{"fr":{"name":"Glycogénose par déficit en phosphoglucomutase","synonyms":["Déficit en phosphoglucomutase 1","GSD par déficit en phosphoglucomutase","GSD type 14","GSD type XIV","Glycogénose type 14","Glycogénose type XIV"]},"de":{"name":"Glykogenose Typ 14","synonyms":["GSD Typ 14","GSD Typ XIV","GSD durch Phosphoglukomutase-Mangel","Glykogen-Speicherkrankheit Typ 14","Glykogen-Speicherkrankheit Typ XIV","Glykogen-Speicherkrankheit durch Phosphoglukomutase-Mangel","Glykogenose Typ XIV","Glykogenose durch Phosphoglukomutase-Mangel","Phosphoglukomutase 1-Mangel"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosfoglucomutasa","synonyms":["Deficiencia de fosfoglucomutasa 1","Enfermedad de almacenamiento de glucógeno tipo 14","Enfermedad de almacenamiento de glucógeno tipo XIV","GSD por deficiencia de fosfoglucomutasa","GSD tipo 14","GSDXIV","Glucogenosis por deficiencia de fosfoglucomutasa","Glucogenosis tipo 14","Glucogenosis tipo XIV"]},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit di fosfoglucomutasi","synonyms":["Deficit di fosfoglucomutasi 1","GSD da deficit di fosfoglucomutasi","GSD, tipo 14","GSDXIV","Glicogenosi da deficit di fosfoglucomutasi","Glicogenosi, tipo 14","Malattia da deposito di glicogeno, tipo 14"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van fosfoglucomutase","synonyms":["Fosfoglucomutase 1-deficiëntie","GSD door deficiëntie van fosfoglucomutase","GSD type 14","GSD-14","GSDXIV","Glycogeenstapelingsziekte type 14","Glycogeenstapelingsziekte type XIV","Glycogenose door deficiëntie van fosfoglucomutase","Glycogenose type 14","Glycogenose type XIV"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de fosfoglucomutase"},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru fosfoglukomutazy","synonyms":["Choroba spichrzania glikogenu typu 14","Glikogenoza typu 14","Glikogenoza z powodu niedoboru fosfoglukomutazy","GSD typu 14","GSD z powodu niedoboru fosfoglukomutazy","GSDXIV","Niedobór fosfoglukomutazy"]},"cs":{"name":"Glykogenóza způsobená deficitem fosfoglukomutázy","synonyms":["GDS typ 14","GSDXIV","Glykogenóza, typ 14","Glykogenóza, typ XIV","Deficit fosfoglukomutázy 1","GDS způsobená deficitem fosfoglukomutázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом фосфоглюкомутази","synonyms":["Хвороба накопичення глікогену, тип 14","Хвороба накопичення глікогену XIV типу","Глікогеноз внаслідок дефіциту фосфоглюкомутази","Глікогеноз типу 14","Глікогеноз XIV типу","GSD внаслідок дефіциту фосфоглюкомутази","GSD тип 14","GSDXIV","Дефіцит фосфоглюкомутази 1"]},"zh":{"name":"葡萄糖磷酸变位酶缺乏所致糖原贮积病","synonyms":["糖原贮积病伴葡萄糖磷酸变位酶缺乏症"]},"tr":{"name":"Fosfoglukomutaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSDXIV","GSD tipi 14","Glikojenoz tip 14","Glikojenoz tip XIV","fosfoglükomütaz 1 eksikliği","Glikojen depo hastalığı tip 14","Glikojen depo hastalığı tip XIV","Fosfoglukomutaz eksikliğine bağlı GSD","Fosfoglukomutaz eksikliğine bağlı glikojenoz"]}},"xrefs":[],"associations":[{"type":"Moved to","orpha":319646,"name":"PGM1-CDG"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}