{"orpha":138055,"name":"Pierre Robin syndrome associated with bone disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Pierre Robin sequence associated with bone disease"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-138055/","orphanet_url":"https://www.orpha.net/en/disease/detail/138055","names":{"fr":{"name":"Syndrome de Pierre Robin associée à une maladie osseuse","synonyms":["Séquence de Pierre Robin associée à une maladie osseuse"]},"de":{"name":"Pierre-Robin-Sequenz mit assoziierter Knochenkrankheit","synonyms":["Pierre-Robin-Syndrom - Knochendefekt"]},"es":{"name":"Síndrome de Pierre Robin asociado con enfermedad ósea","synonyms":["Secuencia de Pierre Robin asociada con enfermedad ósea"]},"it":{"name":"Sindrome di Pierre Robin associata a malattia ossea","synonyms":["Sequenza di Pierre Robin associata a malattia ossea"]},"nl":{"name":"Syndroom van Pierre Robin geassocieerd met botziekte","synonyms":["Pierre Robin sequentie geassocieerd met botziekte"]},"pt":{"name":"Sequência de Pierre Robin associada a doença óssea"},"pl":{"name":"Zespół Pierre'a Robina związany z chorobą kości","synonyms":["Sekwencja Pierre'a Robina związana z chorobą kości"]},"cs":{"name":"Pierre Robinův syndrom spojený s onemocněním kostí","synonyms":["Pierre Robinova sekvence spojená s onemocněním kostí"]},"uk":{"name":"Синдром Пєра Робена, повязаний із захворюванням кісток","synonyms":["Послідовність Пєра Робена повязана з хворобами кісток"]},"zh":{"name":"骨病相关Pierre-Robin综合征","synonyms":["Pierre-Robin序列征相关骨病"]},"tr":{"name":"Kemik hastalığı ilişkili Pierre Robin sendromu","synonyms":["Kemik hastalığı ile ilişkili Pierre Robin dizisi"]}},"xrefs":[{"source":"UMLS","code":"C5679601","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19898","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363294,"name":"Genetic syndromic Pierre Robin syndrome","classifications":[156]},{"orpha":138044,"name":"Rare disease with Pierre Robin syndrome","classifications":[147,200,209]}],"children":[{"orpha":87,"name":"Apert syndrome","type":"Malformation syndrome"},{"orpha":1190,"name":"Atelosteogenesis type I","type":"Malformation syndrome"},{"orpha":56304,"name":"Atelosteogenesis type II","type":"Malformation syndrome"},{"orpha":56305,"name":"Atelosteogenesis type III","type":"Malformation syndrome"},{"orpha":199,"name":"Cornelia de Lange syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}