2021年国家罕见病目录一览表
2022年国家罕见病目录一览表
序号中文名称英文名称
1 21-羟化酶缺乏症21-Hydroxyla Deficiency
2 白化病Albinism
3 Alport 综合成吉思汗的简介
征Alport Syndrome
4 肌萎缩侧索硬化Amy刘邦的儿子
otrophic Lateral Sclerosis
5 Angelman 氏症候群〔天使综合征〕Angelman Syndrome
6 精氨酸酶缺乏症Argina Deficiency
7 热纳综合征〔窒息性胸腔失养症〕Asphyxiating Thoracic Dystrophy (Jeune Syndro轩辕姓氏
me)
8 非典型溶血性尿毒症Atypical Hemolytic Uremic Syndrome
9 自身免疫性脑炎Autoimmune Encephalitis
10 自身免疫性垂体炎Autoimmune Hypophysitis
11 自身免疫性胰岛素受体病Autoimmune Insulin Receptopathy (Type B insulin resistance)
12 -酮硫解酶缺乏症Beta-ketothiola Deficiency
13 生物素酶缺乏症Biotiwho的宾格
nida Deficiency
14 心脏离子通道病Cardic Ion Channelopathies
15 原发性肉碱缺乏症Carnitine Deficiency
16 Castleman病Castleman Dia
17 腓骨肌萎缩症Charcot-Marie-Tooth Dia
18 瓜氨酸血症Citrullinemia
19 先天性肾上腺发育不良Congenital Adrenal Hypoplasia
20 先天性高胰岛素性低血糖血症Congenital Hyperinsulinem成长中的快乐
ic Hypoglycemia
21 先天性肌无力综合征Congenital Myasthenic Syndrome
22 先天性肌强直〔非营养不良性肌强直综合征〕Congeni保持沉默英文
tal Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)
23 先天性脊柱侧弯Congenital Scolios冬景古诗
is
24 冠状动脉扩张病Coronary Artery Ectasia
25 先天性纯红细胞再生障碍性贫血Diamond-Blackfan Anemia
26 Erdheim-Chester病Erdheim-Chester Dia
27 法布雷病Fabry Dia
28 家族性地中海热Familial Mediterranean Fever
29 范可尼贫血Fanconi Anemia
30 半乳糖血症Galactomia
31 戈谢病Gaucher’s Dis ea
32 全身型重症肌无力Generalized Myasthenia Gravis
33 Gitelman 综合征Gitelman Syndr开讲啦刘德华
ome
34 戊二酸血症I型Glutaric Acidemia Type I
35 糖原累积病〔I型、Ⅱ型〕Glycogen Storage Dia (Type I、II〕
36 血友病Hemophilia
37 肝豆状核变性Hepatolenticular Degeneration(Wilson Dia)
38 遗传性血管性水肿Hereditary Angioedema (HAE)
39 遗传性大疱性表皮松解症Hereditary Epidermolysis Bullosa
40 遗传性果糖不耐受症Hereditary Fructo Intolerance
41 遗传性低镁血症Hereditary Hypomagnemia
42 遗传性多发脑梗死性痴呆Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL)
43 遗传性痉挛性截瘫Hereditary Spastic Paraplegia
44 全羧化酶合成酶缺乏症Holocarboxyla Syntheta Deficiency
69 McCune-Albrigh综合征McCune-Albright Syndrome
