{"orpha":309310,"name":"Mucopolysaccharidosis type 4B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Beta-D-galactosidase deficiency","MPS4B","MPSIVB","Morquio disease type B","Mucopolysaccharidosis type IVB"],"definition":null,"note":"This disease is described under Mucopolysaccharidosis type 4","url":"https://raremap.alftech.space/d/ORPHA-309310/","orphanet_url":"https://www.orpha.net/en/disease/detail/309310","names":{"fr":{"name":"Mucopolysaccharidose type 4B","synonyms":["Déficit en bêta-D-galactosidase","MPS4B","MPSIVB","Maladie de Morquio type B","Mucopolysaccharidose type IVB"]},"de":{"name":"Mukopolysaccharidose Typ 4B","synonyms":["Beta-D-Galactosidase-Mangel","MPS4B","MPSIVB","Morquio-Krankheit Typ B","Mukopolysaccharidose Typ IVB"]},"es":{"name":"Mucopolisacaridosis tipo 4B","synonyms":["Deficiencia de beta-D-galactosidasa","Enfermedad de Morquio tipo B","MPS4B","MPSIVB","Mucopolisacaridosis tipo IVB"]},"it":{"name":"Mucopolisaccaridosi, tipo 4B","synonyms":["Deficit di beta-D-galattosidasi","MPS4B","MPSIVB","Malattia di Morquio, tipo B","Mucopolisaccaridosi, tipo IVB"]},"nl":{"name":"Mucopolysacharidose type 4B","synonyms":["Deficiëntie van bèta-D-galactosidase","MPS4B","MPSIVB","Mucopolysacharidose type IVB","Ziekte van Morquio type B"]},"pt":{"name":"Mucopolissacaridose tipo 4B"},"pl":{"name":"Mukopolisacharydoza typu 4B","synonyms":["Choroba Morquio typu B","MPS4B","MPSIVB","Mukopolisacharydoza typu IVB","Niedobór beta-D-galaktozydazy"]},"cs":{"name":"Mukopolysacharidóza, typ 4B","synonyms":["Deficit beta-D-galaktosidázy","MPS4B","MPSIVB","Morquiova nemoc, typ B","Mukopolysacharidóza, typ IVB"]},"uk":{"name":"Мукополісахаридоз, тип 4B","synonyms":["Дефіцит бета-D-галактозидази","Хвороба Моркіо, тип B","MPS4B","MPSIVB","Мукополісахаридоз типу IVB"]},"zh":{"name":"黏多糖贮积症4B型","synonyms":["β-D-半乳糖苷酶缺乏"]},"tr":{"name":"Mukopolisakkaridoz tip 4B","synonyms":["MPS4B","MPSIVB","Morquio hastalığı tip B","Mukopolisakkaridoz tip IVB","Beta-D-galaktosidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"253010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1479415032"},{"source":"MONDO","code":"0009660","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086652","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3786","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":582,"name":"Mucopolysaccharidosis type 4","classifications":[147,150,156,189,199,233]}],"children":[],"genes":[{"symbol":"GLB1","name":"galactosidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24156116[PMID]","hgnc":"4298","ensembl":"ENSG00000170266","omim":"611458","loci":["3p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.001,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.004,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":null}