{"orpha":494348,"name":"Early-onset familial noncirrhotic portal hypertension","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Portosinusoidal vascular disease","url":"https://raremap.alftech.space/d/ORPHA-494348/","orphanet_url":"https://www.orpha.net/en/disease/detail/494348","names":{"fr":{"name":"Hypertension portale non cirrhotique familiale à début précoce"},"de":{"name":"Nicht-zirrhotische portale Hypertension mit frühem Beginn, familiäre Form"},"es":{"name":"Hipertensión portal no cirrótica familiar de inicio precoz"},"it":{"name":"Ipertensione portale non cirrotica familiare ad esordio precoce"},"nl":{"name":"Familiale niet-cirrotische portale hypertensie met vroege aanvang"},"pt":{"name":"Hipertensão portal não-cirrótica familiar de início precoce"},"pl":{"name":"Rodzinne niemiażdżycowe nadciścienie wrotne o wczesnym początku"},"cs":{"name":"Familiární necirhotická portální hypertenze s časným nástupem"},"uk":{"name":"Рання сімейна нециротична портальна гіпертензія"},"zh":{"name":"家族性早发性非肝硬化门脉高压症","definition":"一种罕见的遗传性肝病，其特点是在疾病过程中的某一阶段，没有肝硬化、其他肝病原因或脾静脉血栓形成的情况下，早期出现门脉高压。后果包括发生肝脾肿大伴血小板减少和食管静脉曲张伴潜在出血。肝酶可能升高，而肝功能通常正常，总体临床表型通常为良性。"},"tr":{"name":"Erken başlangıçlı ailesel sirotik olmayan portal hipertansiyon"}},"xrefs":[{"source":"OMIM","code":"617068","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":596937,"name":"Portosinusoidal vascular disease"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}