{"orpha":371040,"name":"Primary qualitative or quantitative defects of alpha-dystroglycan","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary alpha-dystroglycanopathy","Primary dystroglycanopathy"],"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-371040/","orphanet_url":"https://www.orpha.net/en/disease/detail/371040","names":{"fr":{"name":"Anomalie qualitative ou quantitative primaire de l'alpha-dystroglycane","synonyms":["Alpha-dystroglycanopathie primaire","Dystroglycanopathie primaire"]},"de":{"name":"Primäre qualitative oder quantitative Alpha-Dystroglykan-Defekte","synonyms":["Alpha-Dystroglykanopathie, primäre","Dystroglykanopathie, primäre"]},"es":{"name":"Defectos cualitativos o cuantitativos primarios del alfa-distroglicano","synonyms":["Alfa-distroglicanopatía primaria","Distroglicanopatía primaria"]},"it":{"name":"Difetti qualitativi o quantitativi primitivi dell'alfa-distroglicano","synonyms":["Alfa-distroglicanopatia primitiva","Distroglicanopatia primitiva"]},"nl":{"name":"Primaire kwalitatieve of kwantitatieve defecten van alfa-dystroglycaan","synonyms":["Primaire alfa-dystroglycanopathie","Primaire dystroglycanopathie"]},"pt":{"name":"Defeitos qualitativos ou quantitativos primários de alfa-distroglicana"},"pl":{"name":"Pierwotne jakościowe lub ilościowe defekty alfa-dystroglikanu","synonyms":["Dystroglikanopatia pierwotna","Pierwotna alfa-dystroglikanopatia"]},"cs":{"name":"Primární kvalitativní nebo kvantitativní poruchy alfa-dystroglykanu","synonyms":["Primární alfa-dystroglykanopatie","Primární dystroglykanopatie"]},"uk":{"name":"Первинні якісні або кількісні дефекти альфа-дистроглікану","synonyms":["Первинна альфа-дистрогліанопатія","Первинна дистрогліканопатія"]},"zh":{"name":"α-肌营养不良蛋白聚糖主要定性或定量缺陷","synonyms":["原发性α-肌营养不良蛋白聚糖病"]},"tr":{"name":"Alfa distroglikanın primer kalitatif veya kantitatif defektleri","synonyms":["Primer distroglikanopati","Primer alfa-distroglikanopati"]}},"xrefs":[{"source":"MONDO","code":"18283","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371024,"name":"Qualitative or quantitative defects of alpha-dystroglycan","classifications":[156]}],"children":[{"orpha":280333,"name":"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16","type":"Disease"},{"orpha":370997,"name":"Muscle-eye-brain disease with bilateral multicystic leucodystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}