{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Disorder of glycosphingolipid and GPI-anchored proteins glycosylation"],"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-309515/","orphanet_url":"https://www.orpha.net/en/disease/detail/309515","names":{"fr":{"name":"Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres glycosylphosphatidylinositol","synonyms":["Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres GPI"]},"de":{"name":"Störung der Glykosylierung der Glykosphingolipide und des Glycosyl-Phosphatidylinositol-Ankers","synonyms":["Glykosylierung-Störung der Glykosphingolipide und GPI-Anker-Proteine"]},"es":{"name":"Trastorno de la glicosilación de glicoesfingolípidos y del anclaje glicosilfosfatidilinositol","synonyms":["Trastornos de la glicosilación de glicoesfingolípidos y del anclaje GPI"]},"it":{"name":"Disturbo della glicosilazione dei glicosfingolipidi e delle proteine ancorate al glicosilfosfatidilinositolo","synonyms":["Disturbo della glicosilazione delle proteine GPI-ancorate e dei glicosfingolipidi"]},"nl":{"name":"Stoornis van glycosfingolipide en glycosylfosfatidylinositolanker-glycosylatie","synonyms":["Stoornis van glycosfingolipide en GPI-verankerde eiwitten-glycosylatie"]},"pt":{"name":"Alteração do glicosfingolipídio e glicosilação da âncora glicosilfosfatidilinositol"},"pl":{"name":"Zaburzenia glikozylacji glikosfingolipidów i zakotwiczonego glikozylofosfatydyloinozytolu","synonyms":["Zaburzenia glikozylacji glikosfingolipidów i GPI-zakotwiczonych białek"]},"cs":{"name":"Poruchy glykosylace glykosfingolipidů a zakotvených glykosylfosfatidylinositolů","synonyms":["Poruchy glykosylace glykosfingolipidů a proteinů se zakotvenými GPI"]},"uk":{"name":"Порушення глікофосфінголіпідного та глікозилфосфатидилінозитолового якірного глікозилювання","synonyms":["Порушення глікозилювання глікосфінголіпідів та GPI-анкерованих білків"]},"zh":{"name":"糖鞘脂和糖基磷脂酰肌醇锚糖基化障碍","synonyms":["糖鞘脂和GPI锚糖基化障碍"]},"tr":{"name":"Glikosfingolipid ve glikosilfosfatidilinositol çapa glikozilasyon bozukluğu","synonyms":["Glikosfingolipid ve GPI bağlantılı proteinlerinin glikozilasyon bozuklukları"]}},"xrefs":[{"source":"MONDO","code":"0017748","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679954","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":137,"name":"Congenital disorder of glycosylation","classifications":[150,156]}],"children":[{"orpha":401820,"name":"Autosomal recessive spastic paraplegia type 67","type":"Disease"},{"orpha":3474,"name":"CHIME syndrome","type":"Malformation syndrome"},{"orpha":488635,"name":"Early-onset epilepsy-intellectual disability-brain anomalies syndrome","type":"Disease"},{"orpha":397922,"name":"Ferro-cerebro-cutaneous syndrome","type":"Disease"},{"orpha":370933,"name":"GM3 synthase deficiency","type":"Disease"},{"orpha":83639,"name":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","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":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":447,"name":"Paroxysmal nocturnal hemoglobinuria","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}