{"orpha":209203,"name":"Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -","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-209203/","orphanet_url":"https://www.orpha.net/en/disease/detail/209203","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la glucosamine (UDP-N-acétyl)-2-épimérase/N-acétylmannosamine kinase -"},"de":{"name":"UDP-N-Acetylglucosamin-2-Epimerase/N-Acetylmannosamin-Kinase, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de UDP-N-acetilglucosamina-2-epimerasa/N-acetilmanosamina quinasa"},"it":{"name":"Alterazioni qualitative o quantitative della glucosamina (UDP-N-acetil)-2-epimerasi/N-acetilmannosamina chinasi"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -"},"pt":{"name":"Deficiências qualitativas e quantitativas de glucosamine (UDP-N-acetil)-2-epimerase/N-acetilmanosamine quinase"},"pl":{"name":"Defekty jakościowe lub ilościowe glikozamino (UDP-N-acetyl)-2-epimerazy/N-acetylomannozoamino kinazy"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty glukosaminu (UDP-N-acetyl)-2-epimerázy/N-acetylmannosaminázy kinázy -"},"uk":{"name":"Якісні або кількісні дефекти глюкозамін (UDP-N-ацетил)-2-епімерази/N-ацетилманнозамінкінази"},"zh":{"name":"葡萄糖胺（UDP-N-乙酰基）-2-差向异构酶/ N-乙酰甘露糖胺激酶的定性或定量缺陷"},"tr":{"name":"Glukozamin (UDP-N-asetil) -2-epimeraz/N-asetilmannosamin kinazın kalitatif veya kantitatif defekti -"}},"xrefs":[{"source":"MONDO","code":"16200","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680837","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":602,"name":"GNE myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}