{"orpha":276223,"name":"Mucopolysaccharidosis type 6, slowly progressing","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Arylsulfatase B deficiency, slowly progressing","MPS6, slowly progressing","MPSVI, slowly progressing","Mucopolysaccharidosis type VI, slowly progressing"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 6","url":"https://raremap.alftech.space/d/ORPHA-276223/","orphanet_url":"https://www.orpha.net/en/disease/detail/276223","names":{"fr":{"name":"Mucopolysaccharidose type 6, forme lentement progressive","synonyms":["Déficit en arylsulfatase B, forme lentement progressive","MPS6, forme lentement progressive","MPSVI, forme lentement progressive","Mucopolysaccharidose type VI, forme lentement progressive"]},"de":{"name":"Mukopolysaccharidose Typ 6, langsam fortschreitend","synonyms":["Langsam fortschreitende Mukopolysaccharidose Typ VI","Langsam fortschreitender Arylsulfatase B-Mangel","MPS6, langsam fortschreitend","MPSVI, langsam fortschreitend"]},"es":{"name":"Mucopolisacaridosis tipo 6 de progresión lenta","synonyms":["Deficiencia de arilsulfatasa B de progresión lenta","MPS6 de progresión lenta","MPSVI de progresión lenta","Mucopolisacaridosis tipo VI de progresión lenta"]},"it":{"name":"Mucopolisaccaridosi tipo 6, a progressione lenta","synonyms":["Deficit di arilsulfatasi B, a progressione lenta","MPS6 a progressione lenta","MPSVI a progressione lenta","Mucopolisaccaridosi tipo VI, a progressione lenta"]},"nl":{"name":"Mucopolysacharidose type 6, traag progressief","synonyms":["Arylsulfatase B-deficiëntie, traag progressief","MPS6, traag progressief","MPSVI, traag progressief","Mucopolysacharidose type VI, traag progressief"]},"pt":{"name":"Mucopolissacaridose tipo 6 de progressão lenta"},"pl":{"name":"Mukopolisacharydoza typu 6, wolno postępująca","synonyms":["MPS6, wolno postępująca","MPSVI, wolno postępująca","Mukopolisacharydoza typu VI, wolno postępująca","Niedobór arylosulfatzy B, wolno postępujący"]},"cs":{"name":"Mukopolysacharidóza, typ 6, pomalu progredující","synonyms":["Deficit arylsulfatázy B, pomalu progredující","MPS6, pomalu progredující","MPSVI, pomalu progredující","Mukopolysacharidóza, typ VI, pomalu progredující"]},"uk":{"name":"Мукополісахаридоз, тип 6, повільно прогресуючий","synonyms":["Дефіцит арилсульфатази В, повільно прогресуючий","MPS6, повільно прогресує","MPSVI, повільно прогресує","Мукополісахаридоз VI типу, повільно прогресуючий"]},"zh":{"name":"粘多糖贮积症6型，进展缓慢","synonyms":["进展缓慢的黏多糖贮积症VI型"]},"tr":{"name":"Mukopolisakkaridoz tip 6, yavaş ilerleyen","synonyms":["MPS6, yavaş ilerleyen","MPSVI, yavaş ilerleyen","Arilsülfataz B eksikliği, yavaş ilerleyen","Mukopolisakkaridoz tip VI, yavaş ilerleyen"]}},"xrefs":[{"source":"OMIM","code":"253200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.33","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017172","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679780","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":583,"name":"Mucopolysaccharidosis type 6","classifications":[147,150,156,189,199,233]}],"children":[],"genes":[{"symbol":"ARSB","name":"arylsulfatase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"714","ensembl":"ENSG00000113273","omim":"611542","loci":["5q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}