{"orpha":98793,"name":"Prader-Willi syndrome due to paternal 15q11q13 deletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Prader-Willi syndrome","url":"https://raremap.alftech.space/d/ORPHA-98793/","orphanet_url":"https://www.orpha.net/en/disease/detail/98793","names":{"fr":{"name":"Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle","synonyms":["Syndrome de Prader-Willi dû à une monosomie 15q11q13 d'origine paternelle"]},"de":{"name":"Prader-Willi-Syndrom durch paternale Deletion 15q11.13"},"es":{"name":"Síndrome de Prader-Willi por deleción paterna 15q11q13"},"it":{"name":"Sindrome di Prader-Willi da delezione paterna di 15q11q13"},"nl":{"name":"Prader-Willisyndroom door paternale 15q11q13-deletie"},"pt":{"name":"Síndrome de Prader-Willi por deleção 15q11.13 paterna"},"pl":{"name":"Zespół Pradera i Willego z powodu ojcowskiej delecji 15q11q13"},"cs":{"name":"Praderův-Williho syndrom způsobený paternální delecí 15q11q13","synonyms":["Prader-Williho syndrom způsobený paternální delecí 15q11q13"]},"uk":{"name":"Синдром Прадера-Віллі внаслідок батькової делеції 15q11q13"},"zh":{"name":"父源15q11q13缺失型普拉德-威利综合征"},"tr":{"name":"Paternal 15q11q13 delesyonuna bağlı Prader-Willi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020301","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681699","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]},{"orpha":739,"name":"Prader-Willi syndrome","classifications":[147,156,181,193,201,205]}],"children":[{"orpha":177901,"name":"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1","type":"Etiological subtype"},{"orpha":177904,"name":"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-16","source":"27777904[PMID]_31920975[PMID]_20301505[PMID]_26062517[PMID]","terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent 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