{"orpha":991,"name":"PAGOD syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome"],"definition":"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-991/","orphanet_url":"https://www.orpha.net/en/disease/detail/991","names":{"fr":{"name":"Syndrome PAGOD","synonyms":["Syndrome d'hypoplasie pulmonaire-agonadisme-dextrocardie-hernie diaphragmatique"],"definition":"Le syndrome PAGOD est un syndrome polymalformatif sévère caractérisé par des anomalies congénitales multiples associant des malformations cardiovasculaires, une hypoplasie pulmonaire et des anomalies diaphragmatiques et génitales."},"de":{"name":"PAGOD-Syndrom","synonyms":["Kennerknecht-Syndrom","Lungenhypoplasie-Agonadismus-Dextrokardie-Zwerchfellhernie-Syndrom"],"definition":"Das PAGOD-Syndrom ist eine schwere Entwicklungsstörung mit multiplen angeborenen Fehlbildungen, darunter kardiovaskuläre Defekte, Lungenhypoplasie, Zwerchfelldefekte und Fehlbildungen der Genitalien."},"es":{"name":"Síndrome PAGOD","synonyms":["Síndrome de hipoplasia pulmonar-agonadismo-dextrocardia-hernia diafragmática"],"definition":"El síndrome PAGOD es un síndroome grave del desarrollo caracterizado por anomalías congénitas múltiples que incluyen defectos cardiovasculares, hipoplasia pulmonar, defectos diafragmáticos y anomalías de los genitales."},"it":{"name":"Sindrome PAGOD","synonyms":["Sindrome ipoplasia polmonare-agonadismo-destrocardia-ernia diaframmatica"],"definition":"La sindrome PAGOD è una grave patologia dello sviluppo, caratterizzata da difetti congeniti multipli, che comprendono le cardiopatie, l'ipoplasia del polmone, i difetti del diaframma e le anomalie genitali."},"nl":{"name":"PAGOD-syndroom","synonyms":["Pulmonale hypoplasie - agonadisme - dextrocardie - hernia diaphragmatica-syndroom"],"definition":"Het PAGOD-syndroom is een ernstig ontwikkelingssyndroom gekenmerkt door multipele congenitale afwijkingen, waaronder cardiovasculaire defecten, pulmonaire hypoplasie, middenrifdefecten en genitale afwijkingen."},"pt":{"name":"Síndrome PAGOD","synonyms":["Síndrome de hipoplasia pulmonar-agonadismo-dextrocárdia-hérnia diafragmática"],"definition":"A síndrome PAGOD é uma síndrome grave do desenvolvimento caracterizada por anomalias congénitas múltiplas, incluindo defeitos cardiovasculares, hipoplasia pulmonar, defeitos diafragmáticos e anomalias genitais."},"pl":{"name":"Zespół PAGOD","synonyms":["Zespół hipoplazja płuc, agonadyzmu, dekstrokardii i przepukliny przeponowej"]},"cs":{"name":"PAGOD syndrom","synonyms":["Syndrom zahrnující pulmonální hypoplázii, agonadismus, dextrokardii a brániční hernii"]},"uk":{"name":"Синдром PAGOD","synonyms":["индром гіпоплазії легень-агонадізму-декстрокардії-діафрагмальної грижі"],"definition":"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies."},"zh":{"name":"PAGOD综合征","synonyms":["肺发育不良-性腺缺如-右位心-膈疝综合征"]},"tr":{"name":"PAGOD sendromu","synonyms":["Pulmoner hipoplazi-agonadizm-dekstrokardi-diyafragmatik herni sendromu"]}},"xrefs":[{"source":"OMIM","code":"202660","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859967","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]},{"orpha":180148,"name":"Syndromic uterovaginal malformation","classifications":[205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"8291549[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8291549[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004971","label":"Pulmonary artery hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008633","label":"Agonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010458","label":"Female pseudohermaphroditism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null}]}}