{"orpha":276212,"name":"Mucopolysaccharidosis type 6, rapidly progressing","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Arylsulfatase B deficiency, rapidly progressing","MPS6, rapidly progressing","MPSVI, rapidly progressing","Mucopolysaccharidosis type VI, rapidly progressing"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 6","url":"https://raremap.alftech.space/d/ORPHA-276212/","orphanet_url":"https://www.orpha.net/en/disease/detail/276212","names":{"fr":{"name":"Mucopolysaccharidose type 6, forme rapidement progressive","synonyms":["Déficit en arylsulfatase B, forme rapidement progressive","MPS6, forme rapidement progressive","MPSVI, forme rapidement progressive","Mucopolysaccharidose type VI, forme rapidement progressive"]},"de":{"name":"Mukopolysaccharidose Typ 6, rasch fortschreitend","synonyms":["MPSVI, rasch fortschreitend","Rasch fortschreitende Mukopolysaccharidose Typ VI","Rasch fortschreitender Arylsulfatase B-Mangel","MPS6, rasch fortschreitend"]},"es":{"name":"Mucopolisacaridosis tipo 6 de progresión rápida","synonyms":["Deficiencia de arilsulfatasa B de progresión rápida","MPS6 de progresión rápida","MPSVI de progresión rápida","Mucopolisacaridosis tipo VI de progresión rápida"]},"it":{"name":"Mucopolisaccaridosi tipo 6, a progressione rapida","synonyms":["Deficit di arilsulfatasi B, a progressione rapida","MPS6 a progressione rapida","MPSVI a progressione rapida","Mucopolisaccaridosi tipo VI, a progressione rapida"]},"nl":{"name":"Mucopolysacharidose type 6, snel progressief","synonyms":["Arylsulfatase B-deficiëntie, snel progressief","MPS6, snel progressief","MPSVI, snel progressief","Mucopolysacharidose type VI, snel progressief"]},"pt":{"name":"Mucopolissacaridose tipo 6 rapidamente progressiva"},"pl":{"name":"Mukopolisacharydoza typu 6, szybko postępująca","synonyms":["MPS6, szybko postępująca","MPSVI, szybko postępująca","Mukopolisacharydoza typu VI, szybko postępująca","Niedobór arylosulfatzy B, szybko postępujący"]},"cs":{"name":"Mukopolysacharidóza typ 6, rychle progredující","synonyms":["Deficit arylsulfatázy B, rychle progredující","MPS6, rychle progredující","MPSVI, rychle progredující","Mukopolysacharidóza, typ VI, rychle progredující"]},"uk":{"name":"Мукополісахаридоз, тип 6, швидко прогресуючий","synonyms":["Дефіцит арилсульфатази В, що швидко прогресує","MPS6, швидко розвивається","MPSVI, що швидко прогресує","Мукополісахаридоз VI типу, швидко прогресуючий"]},"zh":{"name":"粘多糖贮积症6型，进展迅速","synonyms":["进展迅速的黏多糖贮积症VI型"]},"tr":{"name":"Mukopolisakaridoz tip 6, hızla ilerleyen","synonyms":["MPS6, hızla ilerleyen","MPSVI, hızla ilerleyen","Arilsülfataz B eksikliği, hızla ilerleyen","Mukopolisakkaridoz tip VI, hızla 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":"0017171","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679781","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}