{"orpha":138047,"name":"Pierre Robin syndrome associated with a chromosomal anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Pierre Robin sequence associated with a chromosomal anomaly"],"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-138047/","orphanet_url":"https://www.orpha.net/en/disease/detail/138047","names":{"fr":{"name":"Syndrome de Pierre Robin associée à une anomalie chromosomique","synonyms":["Séquence de Pierre Robin associée à une anomalie chromosomique"]},"de":{"name":"Pierre-Robin-Sequenz mit assoziierter Chromosomenstörung","synonyms":["Pierre-Robin-Syndrom - Chromosomenanomalie"]},"es":{"name":"Síndrome de Pierre Robin asociado con anomalía cromosómica","synonyms":["Secuencia de Pierre Robin asociada con anomalía cromosómica"]},"it":{"name":"Sindrome di Pierre Robin associata a una anomalia cromosomica","synonyms":["Sequenza di Pierre Robin associata a una anomalia cromosomica"]},"nl":{"name":"Syndroom van Pierre Robin geassocieerd met chromosoomafwijking","synonyms":["Pierre Robin sequentie geassocieerd met chromosoomafwijking"]},"pt":{"name":"Sequência de Pierre Robin associada a anomalia cromossómica"},"pl":{"name":"Zespół Pierre'a Robina związany z anomalią chromosomową","synonyms":["Sekwencja Pierre'a Robina związana z anomalią chromosomową"]},"cs":{"name":"Pierre Robinův syndrom asociovaný s chromozomální anomálií","synonyms":["Pierre Robinova sekvence asociovaná s chromozomální anomálií"]},"uk":{"name":"Синдром Пєра Робена, повязаний з хромосомною аномалією","synonyms":["Послідовність Пєра Робіна повязана з хромосомною аномалією"]},"zh":{"name":"染色体异常相关Pierre-Robin综合征","synonyms":["Pierre-Robin序列征相关染色体异常"]},"tr":{"name":"Kromozom anomalisi ilişkili Pierre Robin sendromu","synonyms":["Bir kromozomal anomaliyle ilişkili Pierre Robin dizisi"]}},"xrefs":[{"source":"UMLS","code":"C5679600","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":261323,"name":"21q22.11q22.12 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":567,"name":"22q11.2 deletion syndrome","type":"Malformation syndrome"},{"orpha":436003,"name":"Contractures-developmental delay-Pierre Robin syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}