{"orpha":209033,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 2","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-209033/","orphanet_url":"https://www.orpha.net/en/disease/detail/209033","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la protéine O-mannosyltransférase 2"},"de":{"name":"Protein-O-mannosyltransferase 2, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de la proteína O-manosiltransferasa 2"},"it":{"name":"Alterazioni qualitative o quantitative della proteina O-mannosil-transferasi 2"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van eiwit O-mannosyltransferase 2"},"pt":{"name":"Deficiências qualitativas e quantitativas da proteína O-manosiltransferase 2"},"pl":{"name":"Defekty jakościowe lub ilościowe białka O-mannozylotransferazy 2"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinu O-mannosyltransferázy 2"},"uk":{"name":"Якісні або кількісні дефекти білка О-манозилтрансферази 2"},"zh":{"name":"蛋白质O-甘露糖基转移酶2定性或定量缺陷"},"tr":{"name":"Protein O-mannosiltransferaz 2'nin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16185","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680852","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":206559,"name":"POMT2-related limb-girdle muscular dystrophy R14","type":"Disease"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}