{"orpha":3326,"name":"Thymic-renal-anal-lung dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3326/","orphanet_url":"https://www.orpha.net/en/disease/detail/3326","names":{"fr":{"name":"Dysplasie thymus-rein-anus-poumon","definition":"Ce syndrome est caractérisé par un retard de croissance intra-utérin, une dysgénésie rénale et un thymus unilobé ou absent."},"de":{"name":"Thymus-Nieren-Anus-Lungendysplasie","definition":"Dieses Syndrom ist gekennzeichnet durch intrauterine Wachstumsretardierung, Nierendysgenesie und unilobären oder fehlenden Thymus."},"es":{"name":"Displasia de timo-riñón-ano-pulmón","definition":"Es un síndrome caracterizado por retraso del crecimiento intrauterino, disgenesia renal y timo unilobulado o ausente."},"it":{"name":"Displasia timo-rene-ano-polmone"},"nl":{"name":"Dysplasie van thymus-nier-anus-long","definition":"Een syndroom, gekenmerkt door intra-uteriene groeiretardatie, dysgenesie van nier, en unilobaire of afwezige thymus."},"pt":{"name":"Displasia timo-reno-ano-pulmonar"},"pl":{"name":"Dysplazja grasiczo-nerkowo-odbytowo-płucna"},"cs":{"name":"Thymická-renální-anální-plicní dysplázie"},"uk":{"name":"Тимусово-нирково-анально-легенева дисплазія","definition":"This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus."},"zh":{"name":"胸腺-肾-肛-肺发育不良"},"tr":{"name":"Timik-renal-anal-akciğer displazisi"}},"xrefs":[{"source":"OMIM","code":"274265","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010129","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536907","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848812","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5202","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":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"2260572[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2260572[PMID]"}],"phenotypes":null}