{"orpha":647794,"name":"Isolated persistent urogenital sinus","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated PUGS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-647794/","orphanet_url":"https://www.orpha.net/en/disease/detail/647794","names":{"fr":{"name":"Sinus urogénital persistant isolé","synonyms":["Sinus uro-génital persistant isolé"]},"de":{"name":"Sinus urogenitalis, isolierter persistierender","synonyms":["Isolierter PUGS"]},"es":{"name":"Seno urogenital persistente aislado","synonyms":["PUGS aislado"]},"it":{"name":"Seno urogenitale persistente isolato","synonyms":["PUGS isolato"]},"nl":{"name":"Geïsoleerde persisterende urogenitale sinus","synonyms":["Geïsoleerde PUGS"]},"pt":{"name":"Isolated persistent urogenital sinus","synonyms":["PUGS isolado"]},"pl":{"name":"Izolowana przetrwała zatoka moczowo-płciowa","synonyms":["Isolated PUGS"]},"cs":{"name":"Izolovaný perzistující urogenitální sinus","synonyms":["Isolated PUGS"]},"uk":{"name":"Ізольований персистуючий урогенітальний синус","synonyms":["Ізольований PUGS"]}},"xrefs":[{"source":"ICD-10","code":"Q52.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0957476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816754","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":182117,"name":"Non-syndromic urogenital tract malformation of female","classifications":[147,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}