{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG with developmental anomaly"],"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-371235/","orphanet_url":"https://www.orpha.net/en/disease/detail/371235","names":{"fr":{"name":"Anomalie congénitale de la glycosylation avec anomalie du développement","synonyms":["CDG avec anomalie du développement"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit Entwicklungsanomalie","synonyms":["CDG mit Entwicklungsanomalie"]},"es":{"name":"Trastorno congénito de la glicosilación con anomalías del desarrollo","synonyms":["CDG con anomalías del desarrollo"]},"it":{"name":"Disturbo congenito della glicosilazione con anomalia dello sviluppo","synonyms":["CDG con anomalia dello sviluppo"]},"nl":{"name":"Congenitale glycosylatiestoornis met ontwikkelingsanomalie","synonyms":["CDG met ontwikkelingsanomalie"]},"pt":{"name":"Doença congénita de glicosilação com anomalia do desenvolvimento"},"pl":{"name":"Wrodzone zaburzenie glikozylacji z wadą rozwojową","synonyms":["CDG z wadą rozwojową"]},"cs":{"name":"Vrozená porucha glykosylace s vývojovými anomáliemi","synonyms":["CDG s vývojovými anomáliemi"]},"uk":{"name":"Вроджене порушення глікозилювання з аномалією розвитку","synonyms":["CDG з аномалією розвитку"]},"zh":{"name":"先天性糖基化障碍伴发育异常","synonyms":["CDG伴发育异常"]},"tr":{"name":"Gelişimsel anomali ile seyreden doğumsal glikozilasyon bozukluğu","synonyms":["Gelişimsel anomali ile seyreden CDG"]}},"xrefs":[{"source":"MONDO","code":"18296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680018","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]}],"children":[{"orpha":370943,"name":"Autism spectrum disorder-epilepsy-arthrogryposis syndrome","type":"Disease"},{"orpha":79332,"name":"B4GALT1-CDG","type":"Disease"},{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","type":"Category"},{"orpha":371212,"name":"Congenital disorder of glycosylation with deafness as a major feature","type":"Category"},{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","type":"Category"},{"orpha":272,"name":"Congenital muscular dystrophy, Fukuyama type","type":"Malformation syndrome"},{"orpha":280633,"name":"Multiple congenital anomalies-hypotonia-seizures syndrome","type":"Malformation syndrome"},{"orpha":300496,"name":"Multiple congenital anomalies-hypotonia-seizures syndrome type 2","type":"Malformation syndrome"},{"orpha":588,"name":"Muscle-eye-brain disease","type":"Malformation syndrome"},{"orpha":356961,"name":"SLC35A2-CDG","type":"Disease"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"},{"orpha":370930,"name":"XYLT1-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}