{"orpha":209027,"name":"Qualitative or quantitative defects of protein glycosyltransferase-like","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-209027/","orphanet_url":"https://www.orpha.net/en/disease/detail/209027","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la protéine glycosyltransférase-like"},"de":{"name":"Glycosyltransferase-like Protein (LARGE-Gen), qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de proteína similar a glucosiltransferasa"},"it":{"name":"Alterazioni qualitative o quantitative della proteina glicosiltransferasi-like"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van eiwit glycosyltransferase-achtig"},"pt":{"name":"Deficiências qualitativas e quantitativas da proteína glicosiltransferase-like"},"pl":{"name":"Defekty jakościowe lub ilościowe białka podobnego do glikozyltransferazy"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinu podobnému glykosyltransferáze"},"uk":{"name":"Якісні або кількісні дефекти глікозилтрансферазоподібних білків"},"zh":{"name":"蛋白质糖基转移酶样定性或定量缺陷"},"tr":{"name":"Protein glikosiltransferaz benzeri kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"16183","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680850","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207113,"name":"Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}