{"orpha":138041,"name":"Pierre Robin syndrome associated with collagen disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Pierre Robin sequence associated with collagen 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-138041/","orphanet_url":"https://www.orpha.net/en/disease/detail/138041","names":{"fr":{"name":"Syndrome de Pierre Robin associée à une collagénopathie","synonyms":["Séquence de Pierre Robin associée à une collagénopathie"]},"de":{"name":"Pierre-Robin-Sequenz mit assoziierter Kollagen-Störung","synonyms":["Pierre Robin-Syndrom - Kollagen-Störung"]},"es":{"name":"Síndrome de Pierre Robin asociado con enfermedad del colágeno","synonyms":["Secuencia de Pierre Robin asociada con enfermedad del colágeno"]},"it":{"name":"Sindrome di Pierre Robin associata a malattia del collagene","synonyms":["Sequenza di Pierre Robin associata a malattie del collagene"]},"nl":{"name":"Syndroom van Pierre Robin geassocieerd met collageenziekte","synonyms":["Pierre Robin sequentie geassocieerd met collageenziekte"]},"pt":{"name":"Sequência de Pierre Robin associada a doença do colagénio"},"pl":{"name":"Zespół Pierre'a Robina związany z chorobą kolagenową","synonyms":["Sekwencja Pierre'a Robina związana z chorobą kolagenową"]},"cs":{"name":"Pierre Robinův syndrom asociovaný s kolagenózou","synonyms":["Pierre Robinova sekvence asociovaná s kolagenózou"]},"uk":{"name":"Синдром Пєра Робена, повязаний із захворюванням колагену","synonyms":["Послідовність Пєра Робіна повязана з колагеновими захворюваннями"]},"zh":{"name":"Pierre-Robin综合征伴胶原疾病","synonyms":["Pierre-Robin序列征相关胶原病"]},"tr":{"name":"Kolajen hastalığı ilişkili Pierre Robin sendromu","synonyms":["Kolajen hastalığı ile ilişkili Pierre Robin dizisi"]}},"xrefs":[{"source":"UMLS","code":"C5679599","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19894","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":166100,"name":"Autosomal dominant otospondylomegaepiphyseal dysplasia","type":"Malformation syndrome"},{"orpha":485,"name":"Kniest dysplasia","type":"Disease"},{"orpha":828,"name":"Stickler syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}