1、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Au
2、toimmune 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 B insulin resistance)12-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 Deficiency16Castleman病Castleman Disease17腓骨肌萎缩症Char
3、cot-Marie-Tooth Disease18瓜氨酸血症Citrullinemia19先天性肾上腺发育不良Congenital Adrenal Hypoplasia20先天性高胰岛素性低血糖血症Congenital Hyperinsulinemic Hypoglycemia21先天性肌无力综合征Congenital Myasthenic Syndrome22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 Scoliosis24冠状动脉扩张病C
4、oronary Artery Ectasia25先天性纯红细胞再生障碍性贫血Diamond-Blackfan Anemia26Erdheim-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Gauchers Disease32全身型重症肌无力Generalized Myasthenia Gravis33Gitelman综合征Gitelman Syndrome34戊二酸血症I型Glu
5、taric Acidemia Type I35糖原累积病（I型、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 Hypomagnesemia42遗传
6、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 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 Hypercholesterolem
7、ia47亨廷顿舞蹈病Huntington Disease48HHH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 Cardiomyopathy53特发性低促性腺激素性性腺功能减退症Idiopathic Hypogonadotropic Hypogonadism54特发性肺动脉高压Idiopathic Pu
8、lmonary Arterial Hypertension55特发性肺纤维化Idiopathic Pulmonary Fibrosis56IgG4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 Syndrome62Leber遗传性视神经病变Leber Hereditary Optic N
9、europathy63长链3-羟酰基辅酶A脱氢酶缺乏症Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency64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 Syndrome69McCune-Albrigh综合征McCune-Albright Syndrome
10、70中链酰基辅酶A脱氢酶缺乏症Medium Chain Acyl-CoA Dehydrogenase Deficiency71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 Neuropathy75多种酰基辅酶A脱氢酶缺乏症Multiple Acyl-CoA Dehydrogenase Deficiency76多发性硬化Multiple Sclerosis77多系统萎缩Multiple System
11、 Atrophy78肌强直性营养不良Myotonic Dystrophy79N-乙酰谷氨酸合成酶缺乏症N-acetylglutamate Synthase Deficiency80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 Deafness84Noonan综合征Noonan Syndrome85鸟氨酸氨甲酰基转移酶缺乏症Ornithine Transcarbamylase Deficiency86成骨不全症（脆骨病）Os
12、teogenesis 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Phenylketonuria91POEMS综合征POEMS Syndrome92卟啉病Porphyria93Prader-Willi综合征Prader-Willi Syndrome94原发性联合免疫缺陷Primary
13、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 Amyloidosis97进行性家族性肝内胆汁淤积症Progressive Familial Intrahepatic Cholestasis98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 F
14、ibrosis102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 Neutropenia105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 Disease107Silver-Russell综合征Silver-Russell Syndrome108谷固醇血症Sitosterolemia109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 Atrophy111脊髓小脑性共济失调Spinocerebellar Ataxia112系统性
