{"orpha":309447,"name":"Disorder of protein O-glycosylation","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-309447/","orphanet_url":"https://www.orpha.net/en/disease/detail/309447","names":{"fr":{"name":"Anomalie de la O-glycosylation"},"de":{"name":"Störung der Protein O-Glykosylierung"},"es":{"name":"Trastorno de la O-glicosilación de proteínas"},"it":{"name":"Disturbo della O-glicosilazione delle proteine"},"nl":{"name":"Stoornis van de proteïne O-glycosylatie"},"pt":{"name":"Alteração da proteína O-glicosilação"},"pl":{"name":"Zaburzenia O-glikozylacji białek"},"cs":{"name":"Poruchy O-glykosylace proteinů"},"uk":{"name":"Порушення О-глікозилювання білків"},"zh":{"name":"蛋白O-糖基化紊乱"},"tr":{"name":"Protein O-glikozilasyon bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C54.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1883085871"},{"source":"MONDO","code":"0017741","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681041","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":137,"name":"Congenital disorder of glycosylation","classifications":[150,156]}],"children":[{"orpha":309458,"name":"Disorder of O-N-acetylgalactosaminylglycan synthesis","type":"Category"},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","type":"Category"},{"orpha":309463,"name":"Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis","type":"Category"},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","type":"Category"},{"orpha":309505,"name":"Disorder of fucoglycosan synthesis","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}