{"orpha":1293,"name":"Brachyolmia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1293/","orphanet_url":"https://www.orpha.net/en/disease/detail/1293","names":{"fr":{"name":"Brachyolmie","definition":"La brachyolmie est un groupe rare de maladies osseuses, cliniquement et génétiquement hétérogènes, caractérisé par un tronc court, une petite taille légèrement courte, une scoliose et une platyspondytie généralisée sans anomalies significatives dans les os longs."},"de":{"name":"Brachyolmie"},"es":{"name":"Braquiolmia","definition":"Es un grupo de trastornos óseos clínica y genéticamente heterogéneos y poco frecuentes caracterizados por tronco corto, leve talla baja, escoliosis y platispondilia generalizada sin anomalías significativas de los huesos largos."},"it":{"name":"Brachiolmia"},"nl":{"name":"Brachyolmie","definition":"Brachyolmie is een zeldzame, klinisch en genetisch heterogene groep van botstoornissen die worden gekarakteriseerd door een korte romp, milde kleine gestalte, scoliose en gegeneraliseerde platyspondylie zonder significante afwijkingen aan de pijpbeenderen."},"pt":{"name":"Braquiolmia"},"pl":{"name":"Brachyolmia"},"cs":{"name":"Brachyolmie"},"uk":{"name":"Брахіолмія","definition":"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones."},"zh":{"name":"短脊柱畸形"},"tr":{"name":"Brakiyolmia"}},"xrefs":[{"source":"MONDO","code":"0015262","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15262","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537098","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432228","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081832","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[{"orpha":93304,"name":"Autosomal dominant brachyolmia","type":"Malformation syndrome"},{"orpha":448242,"name":"Autosomal recessive brachyolmia","type":"Malformation syndrome"},{"orpha":93302,"name":"Brachyolmia, Maroteaux type","type":"Malformation syndrome"},{"orpha":2899,"name":"Brachyolmia-amelogenesis imperfecta syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}