2018年国家罕见病目录一览表.doc

.2018年国家罕见病目录一览表序号中文名称英文名称121-羟化酶缺乏症21-Hydroxylase Deficiency2白化病Albinism3Alport 综合征Alport Syndrome4肌萎缩侧索硬化Amyotrophic Lateral Sclerosis5Angelman氏症候群（天使综合征）Angelman Syndrome6精氨酸酶缺乏症Arginase Deficiency7热纳综合征（窒息性胸腔失养症）Asphyxiating Thoracic Dystrophy(Jeune Syndrome)8非典型溶血性尿毒症Atypical Hemolytic Uremic Syndrome9自身免疫性脑炎Autoimmune Encephalitis10自身免疫性垂体炎Autoimmune Hypophysitis11自身免疫性胰岛素受体病Autoimmune Insulin Receptopathy(Type