{"orpha":397590,"name":"Silver-Russell syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Silver-Russell syndrome","url":"https://raremap.alftech.space/d/ORPHA-397590/","orphanet_url":"https://www.orpha.net/en/disease/detail/397590","names":{"fr":{"name":"Syndrome de Silver-Russell dû à une mutation ponctuelle"},"de":{"name":"Silver-Russell-Syndrom durch Punktmutation"},"es":{"name":"Síndrome de Silver-Russell por una mutación puntual"},"it":{"name":"Sindrome di Silver-Russell da mutazione puntiforme"},"nl":{"name":"Syndroom van Silver-Russell door puntmutatie"},"pt":{"name":"Síndrome Silver-Russell por mutação pontual"},"pl":{"name":"Zespół Silvera i Russella spowodowany mutacją punktową"},"cs":{"name":"Silverův-Russellův syndrom způsobený bodovými mutacemi","synonyms":["Silver-Russellův syndrom způsobený bodovými mutacemi"]},"uk":{"name":"Синдром Сільвера-Рассела, зумовлений точковою мутацією"},"zh":{"name":"点突变所致Silver-Russell综合征"},"tr":{"name":"Nokta mutasyonu kaynaklı Silver-Russell sendromu"}},"xrefs":[{"source":"OMIM","code":"616489","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618907","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618908","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5681157","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":813,"name":"Silver-Russell 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