{"orpha":209030,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 1","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-209030/","orphanet_url":"https://www.orpha.net/en/disease/detail/209030","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la protéine O-mannosyltransférase 1"},"de":{"name":"Protein-O-mannosyltransferase 1, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de la proteína O-manosiltransferasa 1"},"it":{"name":"Alterazioni qualitative o quantitative della proteina O-mannosil-transferasi 1"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van eiwit O-mannosyltransferase 1"},"pt":{"name":"Deficiências qualitativas e quantitativas da proteína O-manosiltransferase 1"},"pl":{"name":"Defekty jakościowe lub ilościowe białka O-mannozylotransferazy 1"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinu O-mannosyltransferázy 1"},"uk":{"name":"Якісні або кількісні дефекти білка О-манозилтрансферази 1"},"zh":{"name":"蛋白质O-甘露糖基转移酶1定性或定量缺陷"},"tr":{"name":"Protein O-mannosiltransferaz 1'in kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016184","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680849","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":86812,"name":"POMT1-related limb-girdle muscular dystrophy R11","type":"Disease"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}