{"orpha":183530,"name":"Rare genetic developmental defect during embryogenesis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-183530/","orphanet_url":"https://www.orpha.net/en/disease/detail/183530","names":{"fr":{"name":"Anomalie rare du développement embryonnaire d'origine génétique"},"de":{"name":"Seltener genetischer Entwicklungsdefekt während der Embryogenese"},"es":{"name":"Trastornos del desarrollo embrionario genéticos raros"},"it":{"name":"Difetto raro di sviluppo dell'embrione di origine genetica"},"nl":{"name":"Zeldzame genetische ontwikkelingsstoornis tijdens embryogenese"},"pt":{"name":"Anomalia do desenvolvimento durante a embriogénese, genética, rara"},"pl":{"name":"Rzadkie zaburzenie rozwoju podczas embriogenezy uwarunkowane genetycznie"},"cs":{"name":"Vzácné geneticky podmíněné vývojové defekty vznikající v průběhu embryogeneze"},"uk":{"name":"Рідкісний генетично обумовлений дефект розвитку під час ембріогенезу"},"zh":{"name":"罕见遗传性胚胎发育期发育障碍"},"tr":{"name":"Embriyogenez sırasında nadir genetik gelişimsel defekt"}},"xrefs":[{"source":"MONDO","code":"15960","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98053,"name":"Rare genetic disease","classifications":[156]}],"children":[{"orpha":730421,"name":"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder","type":"Disease"},{"orpha":139009,"name":"Developmental anomaly of metabolic origin","type":"Category"},{"orpha":280403,"name":"Familial omphalocele syndrome with facial dysmorphism","type":"Malformation syndrome"},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","type":"Category"},{"orpha":271853,"name":"Genetic cardiac anomaly","type":"Category"},{"orpha":183506,"name":"Genetic central nervous system malformation","type":"Category"},{"orpha":183536,"name":"Genetic congenital limb malformation","type":"Category"},{"orpha":183542,"name":"Genetic cranial malformation","type":"Category"},{"orpha":183557,"name":"Genetic developmental defect of the eye","type":"Category"},{"orpha":325690,"name":"Genetic difference of sex development","type":"Category"},{"orpha":183545,"name":"Genetic digestive tract malformation","type":"Category"},{"orpha":183583,"name":"Genetic head and neck malformation","type":"Category"},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","type":"Category"},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","type":"Category"},{"orpha":183533,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome","type":"Category"},{"orpha":183573,"name":"Genetic overgrowth/obesity syndrome","type":"Category"},{"orpha":363245,"name":"Genetic progeroid syndrome","type":"Category"},{"orpha":183539,"name":"Genetic renal or urinary tract malformation","type":"Category"},{"orpha":183554,"name":"Genetic respiratory or mediastinal malformation","type":"Category"},{"orpha":211240,"name":"Genetic vascular anomaly","type":"Category"},{"orpha":183548,"name":"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen","type":"Category"},{"orpha":98196,"name":"Malformation syndrome with hamartosis","type":"Category"},{"orpha":363999,"name":"Non-immune hydrops fetalis","type":"Clinical subtype"},{"orpha":2847,"name":"Pericardial and diaphragmatic defect","type":"Malformation syndrome"},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","type":"Category"},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","type":"Category"},{"orpha":404584,"name":"Rare genetic bone development disorder","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}