{"orpha":397692,"name":"OBSOLETE: Hereditary isolated aplastic anemia","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Congenital amegakaryocytic thrombocytopenia","url":"https://raremap.alftech.space/d/ORPHA-397692/","orphanet_url":"https://www.orpha.net/en/disease/detail/397692","names":{"fr":{"name":"OBSOLETE : Aplasie médullaire isolée héréditaire"},"de":{"name":"OBSOLET: Hereditäre Aplastische Anämie, isolierte Form"},"es":{"name":"OBSOLETO: Anemia aplásica aislada hereditaria"},"it":{"name":"OBSOLETO: Anemia aplastica isolata ereditaria"},"nl":{"name":"OBSOLEET: Erfelijke geïsoleerde aplastische anemie"},"pt":{"name":"OBSOLETO: Anemia aplásica hereditária"},"pl":{"name":"NIEAKTUALNE: Dziedziczna izolowana niedokrwistość aplastyczna"},"cs":{"name":"NEAKTUÁLNÍ: Hereditární izolovaná aplastická anémie"},"uk":{"name":"Спадкова ізольована апластична анемія","definition":"Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent."},"zh":{"name":"遗传性孤立性再生障碍性贫血","definition":"遗传性孤立性再生障碍性贫血(遗传性再生障碍性贫血)是一种罕见的遗传性、体质性再生障碍性贫血，其特征是在在一个家庭的多个个体中出现严重的外周血全血细胞减少和骨髓发育不良且无任何躯体症状。有报道指出，患者会出现异常出血和大红细胞增多症。患者的生存依赖于输血。"},"tr":{"name":"Kalıtsal izole aplastik anemi"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":3319,"name":"Congenital amegakaryocytic thrombocytopenia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}