{"orpha":309469,"name":"Disorder of O-mannosylglycan 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-309469/","orphanet_url":"https://www.orpha.net/en/disease/detail/309469","names":{"fr":{"name":"Anomalie de synthèse des O-mannosylglycanes"},"de":{"name":"Störung der O-Mannosyl-Glykan-Synthese"},"es":{"name":"Trastornos de la síntesis del O-manosilo glicano"},"it":{"name":"Difetto della sintesi degli O-mannosilglicani"},"nl":{"name":"Stoornis van O-mannosylglycaansynthese"},"pt":{"name":"Alteração da síntese de O-manosilglicano"},"pl":{"name":"Zaburzenia syntezy O-mannozyloglikanu"},"cs":{"name":"Poruchy syntézy O-mannosylglykanů"},"uk":{"name":"Порушення синтезу О-манозилгліканів"},"zh":{"name":"O-甘露糖聚糖合成障碍"},"tr":{"name":"O-mannosilglikan sentezi bozukluğu"}},"xrefs":[{"source":"MONDO","code":"17745","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681045","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":370959,"name":"Congenital muscular dystrophy with cerebellar involvement","type":"Disease"},{"orpha":370968,"name":"Congenital muscular dystrophy with intellectual disability","type":"Disease"},{"orpha":370980,"name":"Congenital muscular dystrophy without intellectual disability","type":"Disease"},{"orpha":272,"name":"Congenital muscular dystrophy, Fukuyama type","type":"Malformation syndrome"},{"orpha":34515,"name":"FKRP-related limb-girdle muscular dystrophy R9","type":"Disease"},{"orpha":206554,"name":"Fukutin-related limb-girdle muscular dystrophy R13","type":"Disease"},{"orpha":363623,"name":"GMPPB-related limb-girdle muscular dystrophy R19","type":"Disease"},{"orpha":352479,"name":"ISPD-related limb-girdle muscular dystrophy R20","type":"Disease"},{"orpha":445110,"name":"Limb-girdle muscular dystrophy due to POMK deficiency","type":"Disease"},{"orpha":588,"name":"Muscle-eye-brain disease","type":"Malformation syndrome"},{"orpha":206564,"name":"POMGNT1-related limb-girdle muscular dystrophy R15","type":"Disease"},{"orpha":86812,"name":"POMT1-related limb-girdle muscular dystrophy R11","type":"Disease"},{"orpha":206559,"name":"POMT2-related limb-girdle muscular dystrophy R14","type":"Disease"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}