{"orpha":1832,"name":"Osteosclerotic bone dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Raine syndrome"],"definition":"A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1832/","orphanet_url":"https://www.orpha.net/en/disease/detail/1832","names":{"fr":{"name":"Dysplasie osseuse ostéosclérotique","synonyms":["Syndrome de Raine"],"definition":"La dysplasie osseuse ostéosclérotique létale est définie par une ostéosclérose généralisée avec une ossification périostique, une dysmorphie faciale caractéristique, des anomalies cérébrales comprenant des calcifications intracérébrales, et une létalité dans la période néonatale."},"de":{"name":"Knochendysplasie, osteosklerotische","synonyms":["Raine-Syndrom"]},"es":{"name":"Displasia ósea osteoesclerótica","synonyms":["Síndrome de Raine"],"definition":"Es un trastorno poco frecuente definido por una osteosclerosis generalizada con la formación de hueso perióstico, una dismorfia facial característica, anomalías cerebrales incluyendo calcificaciones intracerebrales y un curso neonatal letal."},"it":{"name":"Displasia osteosclerotica dell'osso","synonyms":["Sindrome di Raine"]},"nl":{"name":"Osteosclerotische botdysplasie","synonyms":["Syndroom van Raine"],"definition":"Een zeldzame aandoening, gedefinieerd door gegeneraliseerde osteosclerose met periostale botvorming, karakteristieke faciale dysmorfie, hersenanomalieën waaronder intracerebrale verkalkingen, en een neonataal letaal verloop."},"pt":{"name":"Displasia óssea osteosclerótica","synonyms":["Síndrome Raine"]},"pl":{"name":"Śmiertelna dysplazja osteosklerotyczna kości","synonyms":["Zespół Raine","Dysplazja osteosklerotyczna kości"]},"cs":{"name":"Letální osteosklerotická kostní dysplázie","synonyms":["Raineův syndrom"]},"uk":{"name":"Остеосклеротична кісткова дисплазія","synonyms":["Синдром Рейна"],"definition":"A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course."},"zh":{"name":"致死性骨硬化性骨发育不良","synonyms":["Raine综合征"]},"tr":{"name":"Letal osteosklerotik kemik displazisi","synonyms":["Raine sendromu"]}},"xrefs":[{"source":"OMIM","code":"259775","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1306493470"},{"source":"MONDO","code":"0009821","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535282","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850106","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"282","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93443,"name":"Neonatal osteosclerotic 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