{"orpha":309505,"name":"Disorder of fucoglycosan 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-309505/","orphanet_url":"https://www.orpha.net/en/disease/detail/309505","names":{"fr":{"name":"Anomalie de synthèse des fucoglycosanes"},"de":{"name":"Störung der Fukosyl-Glykosan-Synthese"},"es":{"name":"Trastornos de la síntesis de fucoglucosanos"},"it":{"name":"Difetto della sintesi dei fucoglicosani"},"nl":{"name":"Stoornis van fucoglycosaansynthese"},"pt":{"name":"Alteração da síntese de fucoglicosano"},"pl":{"name":"Zaburzenia syntezy fukoglikozanu"},"cs":{"name":"Poruchy syntézy fukoglykosanů"},"uk":{"name":"Порушення синтезу фукоглікозану"},"zh":{"name":"岩藻糖聚糖合成障碍"},"tr":{"name":"Fukoglikozan sentez bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0017747","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681046","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":2311,"name":"Autosomal recessive spondylocostal dysostosis","type":"Malformation syndrome"},{"orpha":79145,"name":"Dowling-Degos disease","type":"Disease"},{"orpha":709,"name":"Peters plus syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}