{"orpha":207113,"name":"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Secondary alpha-dystroglycanopathy","Secondary dystroglycanopathy"],"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-207113/","orphanet_url":"https://www.orpha.net/en/disease/detail/207113","names":{"fr":{"name":"Anomalie qualitative ou quantitative de protéines impliquées dans la O-glycosylation de l'alpha-dystroglycane","synonyms":["Alpha-dystroglycanopathie secondaire","Dystroglycanopathie secondaire"]},"de":{"name":"Proteine der O-Glykosylierung des alpha-Dystroglycan, qualitative oder quantitative Defekte","synonyms":["Alpha-Dystroglykanopathie, sekundäre","Dystroglykanopathie, sekundäre"]},"es":{"name":"Defectos cualitativos o cuantitativos de proteínas implicados en la O-glicosilación del alfa-distroglicano","synonyms":["Alfa-distroglicanopatía secundaria","Distroglicanopatía secundaria"]},"it":{"name":"Difetti qualitativi o quantitativi della proteina coinvolta nell'O-glicosilazione dell'alfa-distroglicano","synonyms":["Alfa-distroglicanopatia secondaria","Distroglicanopatia secondaria"]},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van proteïne betrokken bij O-glycosylatie van alfa-dystroglycaan","synonyms":["Secundaire alfa-dystroglycanopathie","Secundaire dystroglycanopathie"]},"pt":{"name":"Deficiências qualitativas ou quantitativas da proteína envolvida na O-glicosilação do alfa-distroglicano"},"pl":{"name":"Defekty jakościowe lub ilościowe białka zaangażowanego w O-glikozylację alfa-dystrofiny","synonyms":["Alfa-dystroglikanopatia wtórna","Dystroglikanopatia wtórna"]},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinu zapojeného v O-glykosylaci alfa-dystroglykanu","synonyms":["Sekundární alfa-dystroglykanopatie","Sekundární dystroglykanopatie"]},"uk":{"name":"Якісні або кількісні дефекти білка, що беруть участь в О-глікозилюванні альфа-дистроглікану","synonyms":["Вторинна альфа-дистрогліанопатія","Вторинна дистрогліканопатія"]},"zh":{"name":"与α-肌营养不良聚糖O-糖基化有关的蛋白质的定性或定量缺陷","synonyms":["继发性α-肌营养不良蛋白聚糖病"]},"tr":{"name":"Alfa-distroglikanın O-glikozilasyonunda rol oynayan kalitatif veya kantitatif protein defektleri","synonyms":["Sekonder distroglikanopati","Sekonder alfa-distroglikanopati"]}},"xrefs":[{"source":"MONDO","code":"0016155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16155","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679795","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371024,"name":"Qualitative or quantitative defects of alpha-dystroglycan","classifications":[156]}],"children":[{"orpha":352479,"name":"ISPD-related limb-girdle muscular dystrophy R20","type":"Disease"},{"orpha":445110,"name":"Limb-girdle muscular dystrophy due to POMK deficiency","type":"Disease"},{"orpha":565899,"name":"POMGNT2-related limb-girdle muscular dystrophy R24","type":"Disease"},{"orpha":207119,"name":"Qualitative or quantitative defects of FKRP","type":"Category"},{"orpha":207122,"name":"Qualitative or quantitative defects of fukutin","type":"Category"},{"orpha":209024,"name":"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase","type":"Category"},{"orpha":209030,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 1","type":"Category"},{"orpha":209033,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 2","type":"Category"},{"orpha":209027,"name":"Qualitative or quantitative defects of protein glycosyltransferase-like","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}