{"orpha":207119,"name":"Qualitative or quantitative defects of FKRP","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-207119/","orphanet_url":"https://www.orpha.net/en/disease/detail/207119","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la FKRP"},"de":{"name":"FKRP, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos del gen FKRP"},"it":{"name":"Deficit qualitativi o quantitativi di FKRP"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van FKRP"},"pt":{"name":"Deficiências qualitativas ou quantitativas de FKRP"},"pl":{"name":"Defekty jakościowe lub ilościowe FKRP"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty FKRP"},"uk":{"name":"Якісні або кількісні дефекти ФКРП"},"zh":{"name":"FKRP基因的定性或定量缺陷"},"tr":{"name":"FKRP'nin kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"0016156","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16156","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680827","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":34515,"name":"FKRP-related limb-girdle muscular dystrophy R9","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}