{"orpha":209024,"name":"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Qualitative or quantitative defects of protein POMGNT1"],"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-209024/","orphanet_url":"https://www.orpha.net/en/disease/detail/209024","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la protéine O-mannose bêta1,2N-acétylglucosaminyltransférase","synonyms":["Anomalie qualitative ou quantitative de la protéine POMGNT1"]},"de":{"name":"Protein-O-Mannose-?-1,2-N-acetylglucosaminyl-Transferase, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de la proteína O-manosa beta 1,2N-N-acetilglucosamina transferasa","synonyms":["Anomalías cualitativas o cuantitativas de la proteína POMGNT1"]},"it":{"name":"Alterazioni qualitative o quantitative della proteina O-mannosio beta1,2N-acetil glucosamina transferasi","synonyms":["Alterazioni qualitative o quantitative della proteina POMGNT1"]},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van eiwit O-mannose bèta-1,2-N-acetylglucosaminyltransferase","synonyms":["Kwalitatieve of kwantitatieve defecten van eiwit POMGNT1"]},"pt":{"name":"Deficiências qualitativas e quantitativas da proteína O-manose beta1,2N-acetilglucosaminiltransferase"},"pl":{"name":"Defekty jakościowe lub ilościowe białka O-mannozo beta1,2N-acetyloglukozaminylotransferazy","synonyms":["Defekty jakościowe lub ilościowe białka POMGNT1"]},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinu O-manózy beta1,2N-acetylglukosaminyltransferázy","synonyms":["Kvalitativní nebo kvantitativní defekty proteinu POMGNT1"]},"uk":{"name":"Якісні або кількісні дефекти білкової О-манозної бета1,2N-ацетилглюкозамінілтрансферази","synonyms":["Якісні або кількісні дефекти білка POMGNT1"]},"zh":{"name":"蛋白质O-甘露糖β1,2N-乙酰氨基葡萄糖氨基转移酶定性或定量缺陷","synonyms":["POMGNT1蛋白定性或定量缺陷"]},"tr":{"name":"Protein O-mannoz beta1,2N-asetilglukozaminiltransferazın kalitatif veya kantitatif defekti","synonyms":["POMGNT1 proteininin kalitatif veya kantitatif defektleri"]}},"xrefs":[{"source":"MONDO","code":"16182","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679796","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":[{"orpha":588,"name":"Muscle-eye-brain disease","type":"Malformation syndrome"},{"orpha":206564,"name":"POMGNT1-related limb-girdle muscular dystrophy R15","type":"Disease"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}