2018 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 综合征Alport Syndrome
4 肌萎缩侧索硬化Amyotrophic 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Asphyxiating Thoracic Dystrophy 养症）(Jeune Syndrome)
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Biotinida 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 Hyperinsulinemic 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）
Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)
23 先天性脊柱侧弯Congenital Scoliosis
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 Dia
32
全身型重症肌无力Generalized Myasthenia Gravis
33 Gitelman? 综合征Gi唐伯虎的诗
telman Syndrome
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
In上海日落时间
farcts 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
45 同型半胱氨酸血症Homocysteinemia
46
纯合子家族性高胆固醇血
症
Homozygous Hypercholesterolemia
47 亨廷顿舞蹈病Huntington Dia
48 HHH 综合征Hyperornithinaemia-Hyperammonaemia-Homocitrullinu事业单位个人述职报告
ria Syndrome
49 高苯丙氨酸血症Hyperphenylalaninemia
50 低碱性磷酸酶血症Hypophosphatasia
51
低磷性佝偻病Hypophosphatemic Rickets
52 特发性心肌病Idiopathic Cardiomyopathy
53
特发性低促性腺激素性性
腺功能减退症
Idiopathic Hypogonadotropic Hypogonadism
54 特发性肺动脉高压Idiopathic Pulmonary Arterial Hypertension
55
特发性肺纤维化Idiopathic Pulmonary Fibrosis
56
IgG4 相关性疾病IgG4 related Dia
57 先天性胆汁酸合成障碍Inborn Errors of Bile Acid Synthesis
58
异戊酸血症Isovaleric Acidemia
59
卡尔曼综合征Kallmann Syndrome
60
朗格汉斯组织细胞增生症Langerhans Cell Histiocytosis
61
莱伦氏综合征Laron Syndrome
62 Leber 遗传性视神经病变
Leber Hereditary Optic Neuropathy
63
长链3-羟酰基辅酶A 脱氢酶
缺乏症
Long Chain 3-hydroxyacyl-CoA Dehydrogena Deficiency
64 淋巴管肌瘤病
Lymphangioleiomyomatosis (LAM)
65
赖氨酸尿蛋白不耐受症Lysinuric Protein Intolerance
66 溶酶体酸性脂肪酶缺乏症
Lysosomal Acid Lipa Deficiency
67 枫糖尿症
Maple Syrup Urine Dia
68 马凡综合征
Marfan Syndrome
69 McCune-Albrigh 综合征McCune-Albright Syndrome
70
中链酰基辅酶A 脱氢酶缺乏
症
Medium Chain Acyl-CoA Dehydrogena Deficiency
71 甲基丙二酸血症Methylmalonic Academia
72 线粒体脑肌病Mitochodrial Encephalomyopathy
73 黏多糖贮积症Mucopolysaccharidosis
74 多灶性运动神经病Multifocal Motor Neuropathy
75
多种酰基辅酶A 脱氢酶缺乏
症
Multiple Acyl-CoA Dehydrogena Deficiency
76 多发性硬化Multiple Sclerosis
77 多系统萎缩Multiple System Atrophy
78 肌强直性营养不良Myotonic Dystrophy
79
N-乙酰谷氨酸合成酶缺乏
症
N-acetylglutamate Syntha Deficiency
80 新生儿糖尿病Neonatal Diabetes Mellitus
81 视神经脊髓炎Neuromyelitis Optica
82 尼曼匹克病Niemann-Pick Dia
83
非综合征性耳聋Non-Syndromic Deafness
84
Noonan 综合征Noonan Syndrome
85 鸟氨酸氨甲酰基转移酶缺
乏症
Ornithine Transcarbamyla De平安树好养吗
ficiency
86
成骨不全症（脆骨病）Osteogenesis Imperfecta (Brittle Bone Dia) 87
帕金森病（青年型、早发型）Parkinson Dia (Young-ont , Early-ont) 88
阵发性睡眠性血红蛋白尿Paroxysmal Nocturnal Hemoglobinuria
89
黑斑息肉综合征Peutz-Jeghers Syndrome
90
苯丙酮尿症Phenylketonuria
91
POEMS 综合征POEMS Syndrome
92 卟啉病Porphyria
93 Prader-Willi 综合征Prader-Willi Syndrome
94 原发性联合免疫缺陷Primary Combined Immune Deficiency
95 原发性遗传性肌张力不全Primary Hereditary Dystonia
96 原发性轻链型淀粉样变Primary Light Chain Amyloidosis
97
进行性家族性肝内胆汁淤
积症
Progressive Familial Intrahepatic Cholestasis
98 进行性肌营养不良
Progressive Muscular Dystrophy
99 丙酸血症Propionic Acidemia
100 肺泡蛋白沉积症Pulmonary Alveolar Proteinosis 101 肺囊性纤维化Pulmonary Cystic Fibrosis
102 视网膜色素变性Retinitis Pigmentosa
103
视网膜母细胞瘤Retinoblastoma
104
重症先天性粒细胞缺乏症Severe Congenital Neutropenia
105 婴儿严重肌阵挛性癫痫
（Dravet 综合征）
Se教师招聘简历
vere Myoclonic Epilepsy in Infancy (Dravet Syndrome)
106
镰刀型细胞贫血病Sickle Cell Dia
107
Silver-Rusll 综合征Silver-Rusll Syndrome 108
谷固醇血症Sitosterolemia
109 脊髓延髓肌萎缩症（肯尼迪
病）
Spinal an奶牛英语
d Bulbar Muscular Atrophy (Kennedy Dia)
110 脊髓性肌萎缩症
Spinal Muscular Atrophy
111 脊髓小脑性共济失调
Spinocerebellar Ataxia
112
系统性硬化症Sys孔子是什么时期的人
temic Sclerosis
113 四氢生物蝶呤缺乏症
Tetrahydrobiopterin Deficiency
114 结节性硬化症
Tuberous Sclerosis Complex
115 原发性酪氨酸血症
Tyrosinemia
