{"orpha":309152,"name":"GM2 gangliosidosis","type":"Clinical group","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-309152/","orphanet_url":"https://www.orpha.net/en/disease/detail/309152","names":{"fr":{"name":"Gangliosidose à GM2"},"de":{"name":"GM2-Gangliosidose"},"es":{"name":"Gangliosidosis GM2"},"it":{"name":"Gangliosidosi GM2"},"nl":{"name":"GM2-gangliosidose"},"pt":{"name":"Gangliosidose GM2"},"pl":{"name":"Gangliozydoza GM2"},"cs":{"name":"GM2 gangliosidóza"},"uk":{"name":"GM2 гангліозидоз"},"zh":{"name":"GM2神经节苷脂贮积症"},"tr":{"name":"GM2 gangliosidoz"}},"xrefs":[{"source":"ICD-10","code":"E75.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C56.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1513691830"},{"source":"MONDO","code":"0017720","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17720","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268274","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083933","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309144,"name":"Gangliosidosis","classifications":[150,156,181,233]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[{"orpha":309246,"name":"GM2 gangliosidosis, AB variant","type":"Disease"},{"orpha":796,"name":"Sandhoff disease","type":"Disease"},{"orpha":845,"name":"Tay-Sachs disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.87,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"European Medecines Agency 2017[OTHER]"}],"phenotypes":null}