{"orpha":309458,"name":"Disorder of O-N-acetylgalactosaminylglycan 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-309458/","orphanet_url":"https://www.orpha.net/en/disease/detail/309458","names":{"fr":{"name":"Anomalie de synthèse des O-N-acétylgalactosaminylglycanes"},"de":{"name":"Störung der O-N-Acetylgalaktosamin-Glykan-Synthese"},"es":{"name":"Trastornos de la síntesis de O-N-acetilgalactosaminilglicanos"},"it":{"name":"Difetto della sintesi degli O-N-acetilgalattosaminoglicani"},"nl":{"name":"Stoornis van O-N-acetylgalactosaminylglycaansynthese"},"pt":{"name":"Alteração da síntese de O-N-acetilgalactosaminilglicano"},"pl":{"name":"Zaburzenia syntezy O-N-acetylogalaktozoaminyloglikanu"},"cs":{"name":"Poruchy syntézy O-N-acetylgalaktosaminylglykanů"},"uk":{"name":"Порушення синтезу O-N-ацетилгалактозамінілглікану"},"zh":{"name":"O-N-乙酰半乳糖胺基聚糖合成障碍"},"tr":{"name":"O-N-asetilgalaktozaminilglikan sentezi bozukluğu"}},"xrefs":[{"source":"MONDO","code":"17743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681047","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":306661,"name":"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}