{"orpha":370034,"name":"Familial syringomyelia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-370034/","orphanet_url":"https://www.orpha.net/en/disease/detail/370034","names":{"fr":{"name":"Syringomyélie familiale"},"de":{"name":"Syringomyelie, familiäre"},"es":{"name":"Siringomielia familiar"},"it":{"name":"Siringomielia familiare"},"nl":{"name":"Familiale syringomyelie"},"pt":{"name":"Siringomielia familiar"},"pl":{"name":"Rodzinna jamistość rdzenia"},"cs":{"name":"Familiární syringomyelie"},"uk":{"name":"Сімейна сирингомієлія"},"zh":{"name":"家族性脊髓空洞症"},"tr":{"name":"Ailesel siringomiyeli"}},"xrefs":[{"source":"ICD-10","code":"Q06.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D66","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018257","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":99856,"name":"Primary syringomyelia","classifications":[147,156,181]},{"orpha":183515,"name":"Rare genetic medullar disease","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"7482254[PMID]_18050067[PMID]"}],"phenotypes":null}