{"orpha":207122,"name":"Qualitative or quantitative defects of fukutin","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-207122/","orphanet_url":"https://www.orpha.net/en/disease/detail/207122","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la fukutine"},"de":{"name":"Fukutin, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la fukutina"},"it":{"name":"Deficit qualitativi o quantitativi di fukutina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van fukutine"},"pt":{"name":"Deficiências qualitativas ou quantitativas de fukutina"},"pl":{"name":"Defekty jakościowe lub ilościowe fukutyny"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty fukutinu"},"uk":{"name":"Якісні або кількісні дефекти фукутину"},"zh":{"name":"fukutin的定性或定量缺陷"},"tr":{"name":"Fukutinin kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"16157","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681836","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":206549,"name":"Anoctamin-5-related limb-girdle muscular dystrophy R12","type":"Disease"},{"orpha":272,"name":"Congenital muscular dystrophy, Fukuyama type","type":"Malformation syndrome"},{"orpha":206554,"name":"Fukutin-related limb-girdle muscular dystrophy R13","type":"Disease"},{"orpha":588,"name":"Muscle-eye-brain disease","type":"Malformation syndrome"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}