第一批罕见病目录
第一批罕见病目录
序号中文名称英文名称
121-羟化酶缺乏症 21-Hydroxylase Deficiency
2白化病Albinism
3Alport 综合征Alport Syndrome
4肌萎缩侧索硬化Amyotrophic Lateral Sclerosis
5Angelman 氏症候群（天使综合征）Angelman Syndrome
6精氨酸酶缺乏症Arginase Deficiency
7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 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)
12β-酮硫解酶缺乏症Beta-ketothiolase Deficiency
13生物素酶缺乏症Biotinidase Deficiency
14心脏离子通道病Cardic Ion Channelopathies
15原发性肉碱缺乏症Carnitine Deficiency
16Castleman病Castleman Disease
17腓骨肌萎缩症Charcot-Marie-Tooth Disease
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
26Erdheim-Chester病Erdheim-Chester Disease
27法布雷病Fabry Disease
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Galactosemia
31戈谢病Gaucher’s Disease
32全身型重症肌无力Generalized Myasthenia Gravis
33Gitelman 综合征Gitelman 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 Disease (Type I、II）
36血友病Hemophilia
37肝豆状核变性Hepatolenticular Degeneration(Wilson Disease)
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 Fructose Intolerance
41遗传性低镁血症Hereditary Hypomagnesemia
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Holocarboxylase Synthetase 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 Disease
48HHH综合征Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria 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
56IgG4相关性疾病IgG4 related Disease
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
62Leber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 Dehydrogenase 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 Lipase Deficiency
67枫糖尿症Maple Syrup Urine Disease
68马凡综合征Marfan Syndrome
69McCune-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 Dehydrogenase 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 Dehydrogenase 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
79N-乙酰谷氨酸合成酶缺乏症N-acetylglutamate Synthase 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 Disease
83非综合征性耳聋Non-Syndromic Deafness
84Noonan综合征Noonan Syndrome
85鸟氨酸氨甲酰基转移酶缺乏症Ornithine Transcarbamylase Deficiency
86成骨不全症（脆骨病）Osteogenesis Imperfecta (Brittle Bone Disease)
87帕金森病（青年型、早发型）Parkinson Disease (Young-onset , Early-onset)
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
91POEMS综合征POEMS Syndrome
92卟啉病Porphyria
93Prader-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)Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)
106镰刀型细胞贫血病Sickle Cell Disease
107Silver-Russell综合征Silver-Russell Syndrome
108谷固醇血症Sitosterolemia
109脊髓延髓肌萎缩症（肯尼迪病）Spinal and Bulbar Muscular Atrophy (Kennedy Disease)
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Systemic 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
116极长链酰基辅酶A脱氢酶缺乏症Very Long Chain Acyl-CoA Dehydrogenase Deficiency
117威廉姆斯综合征Williams Syndrome
118湿疹血小板减少伴免疫缺陷综合征Wiskott-Aldrich Syndrome
119X-连锁无丙种球蛋白血症X-linked Agammaglobulinemia
120X-连锁肾上腺脑白质营养不良X-linked Adrenoleukodystrophy
121X-连锁淋巴增生症X-linked Lymphoproliferative Disease
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