{"orpha":207012,"name":"Spinal muscular atrophy associated with central nervous system anomaly","type":"Clinical group","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-207012/","orphanet_url":"https://www.orpha.net/en/disease/detail/207012","names":{"fr":{"name":"Amyotrophie spinale associée à une malformation du système nerveux central"},"de":{"name":"Spinale Muskelatrophie mit assoziierten Anomalien des Zentralnervensystems"},"es":{"name":"Atrofia muscular espinal asociada con anomalías del sistema nervioso central"},"it":{"name":"Atrofia muscolare spinale associata ad alterazione del sistema nervoso centrale"},"nl":{"name":"Spinale spieratrofie geassocieerd met anomalie van centraal zenuwstelsel","synonyms":["Spinale musculaire atrofie geassocieerd met anomalie van centraal zenuwstelsel"]},"pt":{"name":"Atrofia muscular espinhal associada a anomalia do sistema nervoso central"},"pl":{"name":"Rdzeniowy zanik mięśni związany z anomalią centralnego układu nerwowego"},"cs":{"name":"Spinální svalová atrofie asociovaná s anomálií centrálního nervového systému"},"uk":{"name":"Спінальна мязова атрофія, повязана з аномалією центральної нервової системи"},"zh":{"name":"中枢神经系统异常相关的脊髓肌肉萎缩"},"tr":{"name":"Merkezi sinir sistemi anomalisi ilişkili spinal müsküler atrofi"}},"xrefs":[{"source":"MONDO","code":"16131","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680818","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206701,"name":"Bulbospinal muscular atrophy","classifications":[156,181]}],"children":[{"orpha":1496,"name":"Corpus callosum agenesis-neuronopathy syndrome","type":"Disease"},{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1","type":"Clinical subtype"},{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2","type":"Clinical subtype"},{"orpha":73245,"name":"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}