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-Hydroxylase Deficiency2 白化病Albinism3 Alport综合征Alport Syndrome4 肌萎缩侧索硬化Amyotrophic Lateral SclerosisAngelman氏症候群（天使5Angelman Syndrome综合征）6 精氨酸酶缺乏症Arginase Deficiency热纳综合征（窒息性胸腔失Asphyxiating Thoracic Dystrophy7养症）(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 HypophysitisAutoimmune Insulin Receptopathy11 自身免疫性胰岛素受体病(Type B insulin resistance)12 快酮硫解酶缺乏症Beta-ketothiolase Deficiency13 生物素酶缺乏症Biotinidase Deficiency14 心脏离子通道病Cardic Ion Channelopathies15 原发性肉碱缺乏症Carnitine Deficiency16 Castleman 病Castleman Disease17 腓骨肌萎缩症Charcot-Marie-Tooth Disease18 瓜氨酸血症Citrullinemia19 先天性肾上腺发育不良Congenital Adrenal Hypoplasia先天性高胰岛素性低血糖20Congenital Hyperinsulinemic Hypoglycemia 血症21 先天性肌无力综合征Congenital Myasthenic Syndrome先天性肌强直（非营养不良Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)22性肌强直综合征）23 先天性脊柱侧弯Congenital Scoliosis24 冠状动脉扩张病Coronary Artery Ectasia先天性纯红细胞再生障碍Diamond-Blackfan Anemia25性贫血26 Erdheim-Chester 病Erdheim-Chester Disease27 法布雷病Fabry Disease28 家族性地中海热Familial Mediterranean Fever29 范可尼贫血Fanconi Anemia30 半乳糖血症Galactosemia31 戈谢病Gaucher' s Disease32 全身型重症肌无力Generalized Myasthenia Gravis33 Gitelman综合征Gitelman Syndrome34 戊二酸血症1型Glutaric Acidemia Type I35 糖原累积病（1型、H型）Glycogen Storage Disease (Type I 、II)36 血友病Hemophilia37 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 Bullosa40 遗传性果糖不耐受症Hereditary Fructose Intolerance41 遗传性低镁血症Hereditary HypomagnesemiaHereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with 42 遗传性多发脑梗死性痴呆Subcortical Infarcts and Leukoencephalopathy, CADASIL)43 遗传性痉挛性截瘫Hereditary Spastic Paraplegia44 全羧化酶合成酶缺乏症Holocarboxylase Synthetase Deficiency45 同型半胱氨酸血症Homocysteinemia46 纯合子家族性高胆固醇血症Homozygous Hypercholesterolemia47 亨廷顿舞蹈病Huntington Disease48 HHH综合征Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome49 高苯丙氨酸血症Hyperphenylalaninemia50 低碱性磷酸酶血症Hypophosphatasia51 低磷性佝偻病Hypophosphatemic Rickets52 特发性心肌病Idiopathic Cardiomyopathy特发性低促性腺激素性性53Idiopathic Hypogonadotropic Hypogonadism腺功能减退症54 特发性肺动脉高压Idiopathic Pulmonary Arterial Hypertension55 特发性肺纤维化Idiopathic Pulmonary Fibrosis56 lgG4相关性疾病IgG4 related Disease57 先天性胆汁酸合成障碍Inborn Errors of Bile Acid Synthesis58 异戊酸血症Isovaleric Acidemia59 卡尔曼综合征Kallmann Syndrome60 朗格汉斯组织细胞增生症Langerhans Cell Histiocytosis61 莱伦氏综合征Laron Syndrome62 Leber遗传性视神经病变Leber Hereditary Optic Neuropathy长链3-羟酰基辅酶A脱氢酶63Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 缺乏症64 淋巴管肌瘤病Lymphangioleiomyomatosis (LAM)65 赖氨酸尿蛋白不耐受症Lysinuric Protein Intolerance66 溶酶体酸性脂肪酶缺乏症Lysosomal Acid Lipase Deficiency67 枫糖尿症Maple Syrup Urine Disease68 马凡综合征Marfan Syndrome69 McCune-Albrigh 综合征McCune-Albright Syndrome中链酰基辅酶A脱氢酶缺70Medium Chain Acyl-CoA Dehydrogenase Deficiency 乏症71 甲基丙二酸血症Methylmalonic Academia72 线粒体脑肌病Mitochodrial Encephalomyopathy73 黏多糖贮积症Mucopolysaccharidosis74 多灶性运动神经病Multifocal Motor Neuropathy多种酰基辅酶A脱氢酶缺乏75Multiple Acyl-CoA Dehydrogenase Deficiency 症76 多发性硬化Multiple Sclerosis77 多系统萎缩Multiple System Atrophy78 肌强直性营养不良Myotonic DystrophyN-乙酰谷氨酸合成酶缺乏79N-acetylglutamate Synthase Deficiency 症80 新生儿糖尿病Neonatal Diabetes Mellitus81 视神经脊髓炎Neuromyelitis Optica82 尼曼匹克病Niemann-Pick Disease83 非综合征性耳聋Non-Syndromic Deafness84 Noonan综合征Noonan Syndrome鸟氨酸氨甲酰基转移酶缺Ornithine Transcarbamylase Deficiency85乏症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 Hemoglobinuria89 黑斑息肉综合征Peutz-Jeghers Syndrome90 苯丙酮尿症Phenylketonuria91 POEMS综合征POEMS Syndrome92 卟啉病Porphyria93 Prader-Willi 综合征Prader-Willi Syndrome94 原发性联合免疫缺陷Primary Combined Immune Deficiency95 原发性遗传性肌张力不全Primary Hereditary Dystonia96 原发性轻链型淀粉样变Primary Light Chain Amyloidosis进行性家族性肝内胆汁淤Progressive Familial Intrahepatic Cholestasis97积症98 进行性肌营养不良Progressive Muscular Dystrophy99 丙酸血症Propionic Acidemia100 肺泡蛋白沉积症Pulmonary Alveolar Proteinosis101 肺囊性纤维化Pulmonary Cystic Fibrosis102 视网膜色素变性Retinitis Pigmentosa103 视网膜母细胞瘤Retinoblastoma104 重症先天性粒细胞缺乏症Severe Congenital Neutropenia婴儿严重肌阵挛性癫痫Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) 105（Dravet综合征）106 镰刀型细胞贫血病Sickle Cell Disease107 Silver-Russell 综合征Silver-Russell Syndrome108 谷固醇血症Sitosterolemia脊髓延髓肌萎缩症（肯尼迪Spinal and Bulbar Muscular Atrophy (Kennedy Disease) 109病）110 脊髓性肌萎缩症Spinal Muscular Atrophy111 脊髓小脑性共济失调Spinocerebellar Ataxia112 系统性硬化症Systemic Sclerosis113 四氢生物蝶呤缺乏症Tetrahydrobiopterin Deficiency114 结节性硬化症Tuberous Sclerosis Complex115 原发性酪氨酸血症Tyrosinemia极长链酰基辅酶A脱氢酶116Very Long Chain Acyl-CoA Dehydrogenase Deficiency 缺乏症117 威廉姆斯综合征Williams Syndrome湿疹血小板减少伴免疫缺118Wiskott-Aldrich Syndrome陷综合征119 X-连锁无丙种球蛋白血症X-linked AgammaglobulinemiaX-连锁肾上腺脑白质营养120X-linked Adrenoleukodystrophy不良121 X-连锁淋巴增生症X-linked Lymphoproliferative Disease。