{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","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-309450/","orphanet_url":"https://www.orpha.net/en/disease/detail/309450","names":{"fr":{"name":"Anomalie de synthèse des O-xylosylglycanes"},"de":{"name":"Störung der O-Xylosylglykan-Synthese"},"es":{"name":"Trastornos de la síntesis de O-xilosilglicanos"},"it":{"name":"Difetto della sintesi degli O-xilosilglicani"},"nl":{"name":"Stoornis van O-xylosylglycaansynthese"},"pt":{"name":"Alteração da síntese de O-xilosilglicano"},"pl":{"name":"Zaburzenia syntezy O-ksylozyloglikanu"},"cs":{"name":"Poruchy syntézy O-xylosylglykanů"},"uk":{"name":"Порушення синтезу О-ксилозилгліканів"},"zh":{"name":"O-木糖基聚糖合成障碍"},"tr":{"name":"O-ksilozilglikan sentezi bozukluğu"}},"xrefs":[{"source":"MONDO","code":"17742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681042","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309447,"name":"Disorder of protein O-glycosylation","classifications":[150,156]}],"children":[{"orpha":536467,"name":"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":75496,"name":"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":263463,"name":"CHST3-related skeletal dysplasia","type":"Disease"},{"orpha":284139,"name":"Larsen-like syndrome, B3GAT3 type","type":"Malformation syndrome"},{"orpha":321,"name":"Multiple osteochondromas","type":"Disease"},{"orpha":2953,"name":"Musculocontractural Ehlers-Danlos syndrome","type":"Disease"},{"orpha":480682,"name":"POGLUT1-related limb-girdle muscular dystrophy R21","type":"Disease"},{"orpha":466926,"name":"Seizures-scoliosis-macrocephaly syndrome","type":"Disease"},{"orpha":363417,"name":"Temtamy preaxial brachydactyly syndrome","type":"Malformation syndrome"},{"orpha":370930,"name":"XYLT1-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}