{"orpha":220443,"name":"OBSOLETE: Bleeding diathesis due to thromboxane synthesis deficiency","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete with resources"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Bleeding diathesis due to thromboxane A2 receptor variants","url":"https://raremap.alftech.space/d/ORPHA-220443/","orphanet_url":"https://www.orpha.net/en/disease/detail/220443","names":{"fr":{"name":"OBSOLETE : Troubles hémorragiques par déficit de synthèse de la thromboxane"},"de":{"name":"OBSOLET: Hämorrhagische Diathese durch Thromboxan-Synthetase-Mangel","synonyms":["OBSOLET: Thromboxan-Synthetase-Mangel"]},"es":{"name":"OBSOLETO: Diátesis hemorrágica por deficiencia de síntesis de tromboxano"},"it":{"name":"OBSOLETO: Diatesi emorragica da deficit della sintesi del trombossano"},"nl":{"name":"OBSOLEET: Bloedingsdiathese door deficiëntie van thromboxaansynthese"},"pt":{"name":"OBSOLETO: Diátese hemorrágica por deficiência na síntese de tromboxano"},"pl":{"name":"NIEAKTUALNE: Skaza krwotoczna z powodu niedoboru syntezy tromboksanu"},"cs":{"name":"NEAKTUÁLNÍ: Hemoragická diatéza způsobená deficitem syntézy tromboxanu"},"uk":{"name":"Кровоточивий діатез внаслідок дефіциту синтезу тромбоксану","definition":"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction)."},"zh":{"name":"血栓烷合成缺陷所致出血素质","definition":"血栓素合成酶缺乏所致自发性出血是一种罕见的、遗传的、孤立性体质性血小板减少症，其特征是由于血栓素合成或信号缺陷而导致血小板聚集受损，表现为轻度至中度皮肤粘膜、胃肠道或外科手术出血（例如容易擦伤，鼻出血时间延长，拔牙后出血过多）。"},"tr":{"name":"Tromboksan sentez eksikliğine bağlı kanama diyatezi"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":728656,"name":"Bleeding diathesis due to thromboxane A2 receptor variants"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}