{"orpha":98754,"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["UPD(15)mat"],"definition":null,"note":"This disease is described under Prader-Willi syndrome","url":"https://raremap.alftech.space/d/ORPHA-98754/","orphanet_url":"https://www.orpha.net/en/disease/detail/98754","names":{"fr":{"name":"Syndrome de Prader-Willi dû à une disomie uniparentale maternelle du chromosome 15","synonyms":["UPD(15) maternelle","UPD(15)mat"]},"de":{"name":"Prader-Willi-Syndrom durch maternale uniparentale Disomie 15","synonyms":["UPD(15)mat"]},"es":{"name":"Síndrome de Prader-Willi por disomía uniparental materna del cromosoma 15","synonyms":["UPD(15)mat"]},"it":{"name":"Sindrome di Prader-Willi da disomia uniparentale materna del cromosoma 15","synonyms":["UPD(15)mat"]},"nl":{"name":"Prader-Willisyndroom door maternale uniparentale disomie van chromosoom 15","synonyms":["UPD(15)mat"]},"pt":{"name":"Síndrome de Prader-Willi por dissomia uniparental do cromossoma 15, de origem materna"},"pl":{"name":"Zespół Pradera i Willego z powodu matczynej jednorodzicielskiej disomii chromosomu 15","synonyms":["UPD(15)mat"]},"cs":{"name":"Praderův-Williho syndrom způsobený maternální uniparentální dizomií chromozomu 16","synonyms":["UPD(15)mat","Prader-Williho syndrom způsobený maternální uniparentální dizomií chromozomu 16"]},"uk":{"name":"Синдром Прадера-Віллі, зумовлений материнською уніпарентною дисомією хромосоми 15","synonyms":["UPD(15)mat"]},"zh":{"name":"15号染色体母源单亲二体型Prader-Willi综合征","synonyms":["母源性UPD(15)"]},"tr":{"name":"Kromozom 15'in maternal uniparental dizomisine bağlı Prader-Willi sendromu","synonyms":["UPD (15) mat"]}},"xrefs":[{"source":"OMIM","code":"176270","qualifier":"NTBT","icd_relation":null,"validated":true},{"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,"icd11_uri":"null"},{"source":"MONDO","code":"0020298","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680343","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98153,"name":"Maternal uniparental disomy syndrome","classifications":[147,156]},{"orpha":739,"name":"Prader-Willi syndrome","classifications":[147,156,181,193,201,205]}],"children":[],"genes":[{"symbol":"MAGEL2","name":"MAGE family member L2","gene_type":"gene with protein product","association":"Role in the phenotype 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applicable"],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-16","source":"26062517[PMID]_20301505[PMID]_27777904[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 (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent 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