{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG-related bone disorder"],"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-371195/","orphanet_url":"https://www.orpha.net/en/disease/detail/371195","names":{"fr":{"name":"Maladie osseuse liée à une anomalie congénitale de la glycosylation","synonyms":["Maladie osseuse liée à une CDG"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit assoziierter Knochenerkrankung","synonyms":["CDG-assoziierte Kochenkrankheit"]},"es":{"name":"Trastorno congénito de la glicosilación asociado a un trastorno óseo","synonyms":["Trastorno óseo asociado a CDG"]},"it":{"name":"Malattia ossea correlata a disturbo congenito della glicosilazione","synonyms":["Malattia ossea CDG-correlata"]},"nl":{"name":"Botstoornis gerelateerd aan congenitale glycosylatiestoornis","synonyms":["CDG-gerelateerde botstoornis"]},"pt":{"name":"Doença óssea glicosilação-relacionada congénita"},"pl":{"name":"Wrodzone zaburzenie glikozylacji związane z zaburzeniami kostnymi","synonyms":["CDG związane z zaburzeniami kostnymi"]},"cs":{"name":"Kostní porucha související s vrozenou poruchou glykosylace","synonyms":["Kostní porucha související s CDG"]},"uk":{"name":"Хвороба кісток, повязана з вродженим порушенням глікозилювання","synonyms":["Порушення кісткової тканини, повязані з CDG"]},"zh":{"name":"先天性糖基化相关骨疾病","synonyms":["CDG相关骨病"]},"tr":{"name":"Glikozilasyon-ilişkili kemik bozukluğunun doğumsal bozukluğu","synonyms":["CDG-ilişkili kemik bozukluğu"]}},"xrefs":[{"source":"MONDO","code":"18292","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":364803,"name":"Rare bone disease related to a common gene or pathway defect","classifications":[156]}],"children":[{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","type":"Disease"},{"orpha":2311,"name":"Autosomal recessive spondylocostal dysostosis","type":"Malformation syndrome"},{"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":263508,"name":"COG1-CDG","type":"Disease"},{"orpha":247262,"name":"Hyperphosphatasia-intellectual disability syndrome","type":"Disease"},{"orpha":369837,"name":"Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome","type":"Malformation syndrome"},{"orpha":284139,"name":"Larsen-like syndrome, B3GAT3 type","type":"Malformation syndrome"},{"orpha":321,"name":"Multiple osteochondromas","type":"Disease"},{"orpha":3144,"name":"Schneckenbecken dysplasia","type":"Malformation syndrome"},{"orpha":314667,"name":"TMEM165-CDG","type":"Disease"},{"orpha":363417,"name":"Temtamy preaxial brachydactyly syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}