{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["SRP","Short rib dysplasia"],"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-93426/","orphanet_url":"https://www.orpha.net/en/disease/detail/93426","names":{"fr":{"name":"Ciliopathies avec atteinte osseuse majeure","synonyms":["Dysplasie des côtes courtes"]},"de":{"name":"Ziliopathie mit vorwiegend skelettaler Beteiligung","synonyms":["Kurzrippen-Dysplasie","SRP"]},"es":{"name":"Ciliopatías con afectación esquelética extensa","synonyms":["Displasia de costillas cortas","SRP"]},"it":{"name":"Displasia costa-corta con o senza polidattilia"},"nl":{"name":"Ciliopathieën met overwegend betrokkenheid van skelet","synonyms":["Korte rib-dysplasie","SRP"]},"pt":{"name":"Ciliopatias com envolvimento esquelético extenso","synonyms":["Displasia de costela curta"]},"pl":{"name":"Dysplazja krótkich żeber","synonyms":["Dysplazja krótkiego żebra (z polidaktylią lub bez polidaktylii)","SRP"]},"cs":{"name":"Dysplázie krátkých žeber","synonyms":["SRP","Dysplázie krátkých žeber (s nebo bez polydaktylie)"]},"uk":{"name":"Циліопатії з великим ураженням скелета","synonyms":["Дисплазія коротких ребер","SRP"]},"zh":{"name":"主要累及骨骼的纤毛疾病","synonyms":["短肋骨发育不良"]},"tr":{"name":"Büyük iskelet tutulumu ile seyreden siliyopatiler","synonyms":["SRP","Kısa kaburga displazisi"]}},"xrefs":[{"source":"OMIM","code":"617405","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0019691","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432195","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]},{"orpha":364803,"name":"Rare bone disease related to a common gene or pathway defect","classifications":[156]}],"children":[{"orpha":464366,"name":"NEK9-related lethal skeletal dysplasia","type":"Malformation syndrome"},{"orpha":2753,"name":"Orofaciodigital syndrome type 4","type":"Malformation syndrome"},{"orpha":140969,"name":"Saldino-Mainzer syndrome","type":"Disease"},{"orpha":1505,"name":"Short rib-polydactyly syndrome","type":"Clinical group"},{"orpha":1861,"name":"Thoracic dysplasia-hydrocephalus syndrome","type":"Malformation syndrome"},{"orpha":3317,"name":"Thoracolaryngopelvic dysplasia","type":"Malformation syndrome"},{"orpha":1803,"name":"Thoracomelic dysplasia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}