{"orpha":294963,"name":"Popliteal pterygium syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-294963/","orphanet_url":"https://www.orpha.net/en/disease/detail/294963","names":{"fr":{"name":"Syndrome des ptérygiums poplités"},"de":{"name":"Popliteales Pterygium-Syndrom"},"es":{"name":"Síndrome de pterigium poplíteo"},"it":{"name":"Sindrome degli pterigi popliteali"},"nl":{"name":"Popliteaal pterygium-syndroom"},"pt":{"name":"Síndrome pterígeo poplíteo"},"pl":{"name":"Zespół płetwistości podkolanowych"},"cs":{"name":"Syndrom popliteálních pterygií"},"uk":{"name":"Синдром підколінного птеригіуму"},"zh":{"name":"腘窝翼状胬肉综合征"},"tr":{"name":"Popliteal piterjiyum sendromu"}},"xrefs":[{"source":"MONDO","code":"0017435","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17435","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562509","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265259","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079892","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":109007,"name":"Arthrogryposis syndrome","classifications":[147]},{"orpha":723416,"name":"Genetic arthrogryposis syndrome","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":98565,"name":"Syndromic ankyloblepharon filiforme adnatum","classifications":[147,156,189]}],"children":[{"orpha":1300,"name":"Autosomal dominant popliteal pterygium syndrome","type":"Malformation syndrome"},{"orpha":1234,"name":"Bartsocas-Papas syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"2352260[PMID]"}],"phenotypes":null}