{"orpha":521268,"name":"Sodium-dependent multivitamin transporter deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-521268/","orphanet_url":"https://www.orpha.net/en/disease/detail/521268","names":{"fr":{"name":"SLC5A6-CDG"},"de":{"name":"Natriumabhängiger Multivitamin-Transporter-Mangel"},"es":{"name":"Deficiencia del transportador multivitamínico dependiente de sodio","synonyms":["Trastorno congénito de la glicosilación asociado al gen SLC5A6"]},"it":{"name":"SLC5A6-CDG"},"nl":{"name":"Deficiëntie van natriumafhankelijke multivitaminetransporter"},"pt":{"name":"Deficiência do transportador multivitamínico dependente de sódio"},"pl":{"name":"SLC5A6-CDG","synonyms":["Wrodzone zaburzenie glikozydacji związane z SLC5A6"]},"cs":{"name":"SLC5A6-CDG","synonyms":["Vrozená porucha glykosylace související s SLC5A6"]},"uk":{"name":"ЗАСТАРІЛО: SLC5A6-CDG","synonyms":["Вроджене порушення глікозилювання, повязане з SLC5A6"]},"zh":{"name":"弃用：SLC5A6基因-常染色体阴性遗传细胞色素阳性慢性肉芽肿症I型","synonyms":["SLC5A6基因-常染色体阴性遗传细胞色素阳性慢性肉芽肿症I型"]},"tr":{"name":"ESKİ: SLC5A6-CDG","synonyms":["SLC5A6-ilişkili doğumsal glikozilasyon bozukluğu"]}},"xrefs":[{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}