{"orpha":79022,"name":"Simpson-Golabi-Behmel syndrome type 2","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Lethal variant of Simpson-Golabi-Behmel syndrome","SGBS2"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multiple congenital anomalies-hypotonia-seizures syndrome type 2","url":"https://raremap.alftech.space/d/ORPHA-79022/","orphanet_url":"https://www.orpha.net/en/disease/detail/79022","names":{"fr":{"name":"Syndrome de Simpson-Golabi-Behmel type 2","synonyms":["SGBS2","Syndrome de Simpson-Golabi-Behmel létal"]},"de":{"name":"Simpson-Golabi-Behmel-Syndrom Typ 2","synonyms":["SGBS2","Simpson-Golabi-Behmel-Syndrom, letale Form"]},"es":{"name":"Síndrome de Simpson-Golabi-Behmel tipo 2"},"it":{"name":"Sindrome di Simpson-Golabi-Behmel, tipo 2","synonyms":["Sindrome di Simpson-Golabi-Behmel, forma letale"]},"nl":{"name":"Simpson-Golabi-Behmelsyndroom type 2","synonyms":["Letale variant van Simpson-Golabi-Behmelsyndroom","SGBS2"]},"pt":{"name":"Síndrome de Simpson-Golabi-Behmel tipo 2","synonyms":["SGBS2","Síndrome de Simpson-Golabi-Behmel, forma letal"]},"pl":{"name":"Zespół Simpsona, Golabi i Behmela typu 2","synonyms":["SGBS2","Śmiertelny wariant zespołu Simpsona, Golabi i Behmela"]},"cs":{"name":"Simpsonův-Golabiho-Behmelův syndrom, typ 2","synonyms":["Letální varianta Simpsonova-Golabiho-Behmelova syndromu","SGBS2","Simpson-Golabi-Behmelův syndrom, typ 2","Letální varianta Simpson-Golabi-Behmelova syndromu"]},"uk":{"name":"Синдром Сімпсона-Голабі-Бехмеля, тип 2","synonyms":["Летальний варіант синдрому Сімпсона-Голабі-Бехмеля","SGBS2"]},"zh":{"name":"Simpson-Golabi-Behmel综合征2型","synonyms":["致死变异型Simpson-Golabi-Behmel综合征"]},"tr":{"name":"Simpson-Golabi-Behmel sendromu tip 2","synonyms":["SGBS2","Simpson-Golabi-Behmel sendromunun letal varyantı"]}},"xrefs":[{"source":"UMLS","code":"C1846175","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":300496,"name":"Multiple congenital anomalies-hypotonia-seizures syndrome type 2"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}