数字 21 羟化酶缺乏症21 Hydroxyulase Deficiency A 软骨发育不全Achondroplasia 肢端肥大症Acromegaly Aicardi goutières综合征Aicardi goutières syndrome （ags） 动脉肝脏发育不良综合征Alagille syndrome 白化病Albinism 遗传性进行性肾炎（Alport综合征）Alport syndrome 肌萎缩侧索硬化症Amyotrophic lateral sclerosis (ALS) 天使综合征Angelman syndrome (AS) 再生障碍性贫血Aregenerative anemia 精氨酸酶缺乏症Arginase Deficiency 特纳综合征Asphyxiating Thoracic Dystrophy (Jeune syndrome) 共济失调 毛细血管扩张症Ataxia-telangiectasia (AT) 非典型溶血性尿毒症综合征Atypical hemolytic uremic syndrome (aHUS) 常染色体隐性多囊肾病Autosomal recessive polycystic kidney disease (ARPKD) 自身免疫性脑炎Autoimmune Encephalitis 自身免疫性垂体炎Autoimmune Hypophysitis B 白塞病Beh et disease β 酮硫解酶缺乏症Beta ketothiolase deficiency 生物素酶缺乏症Biotinidase deficiency C 躯干发育异常Campomelic dysplasia（CD） 心脏离子通道病Cardic Ion Channelopathies Castleman病Castleman Disease 腓骨肌萎缩症Charcot Marie Tooth disease (CMT) 原发性慢性肉芽肿病Chronic primary granulomatous disease 瓜氨酸血症Citrullinemia 先天性肾上腺皮质增生症Congenital adrenal hyperplasia (CAH) 先天性红细胞生成障碍性贫血Congenital dyserythropoietic anemia (CDA) 先天性Cajal氏间质细胞增生合并肠道神经元发育异常Congenital Interstitial Cell of Cajal Hyperplasia withNeuronal 先天性肌无力综合征Congenital Myasthenic Syndromes (CMS) 先天性脊柱侧弯Congenital Scoliosis 冠状动脉扩张病Coronary Artery Ectasia 猫叫综合征（5P-综合征）Cri du chat syndrome (5p syndrome) 克罗恩病Crohn's disease 隐眼—并指（趾）综合征Cryptophthalmos syndactylysyndrom 囊性纤维化Cystic fibrosis (CF) D 先天性纯红细胞生成障碍性贫血Diamond-Blackfan Anemia 婴儿严重肌阵挛性癫痫（dravet综合征）Dravet syndrome 杜氏肌营养不良症Duchenne muscular dystrophy (DMD) 先天性角化不良Dyskeratosiscongenita E 早发性帕金森病Early-onset Parkinson disease 大疱性表皮松解症Epidermolysisbullosa (EB) Erdheim-Chester病Erdheim-Chester Discase 红细胞增多症Erythocytosis F 法布雷病Fabry disease 面肩胛肱型肌营养不良症Facioscapulohumeral muscular dystrophy 家族性高胆固醇血症Familial hyperchylomicronemia （FH） 先天性高胰岛素性低血糖血症Familial hyperinsulinemic hypoglycemia (HHF) 家族性低血钾症Familial Hypokalemia 家族性地中海热Familial Mediterranean Fever 范可尼贫血Fanconi anemia (FA) 脂肪酸氧化作用缺陷Fatty acid oxidation defect 脆性x染色体综合征Fragile X syndrome (FX) 弗里曼—谢尔登氏综合征Freeman-Sheldon syndrome (FSS) G 半乳糖血症Galactosemia 戈谢病Gaucher disease (GD) 全身型重症肌无力General Myathenic Gravis 体质性肝功能不良性黄疸Gilbert's Syndrome gitelman综合征Gitelman syndrome 戊二酸血症Glutaric academia (GA) 糖原累积病Glycogen storage disease (GSD) 糖原贮积病（Ⅰ、Ⅱ型）Glycogen Storage Disease（Type I、II） 生长激素缺乏症Growth hormone deficiency H 血友病Hemophilia 遗传性血管性水肿Hereditary angioedema (HAE) 遗传性大疱性表皮松懈症Hereditary Epidermolysis Bullosa 遗传性果糖不耐受症Hereditary fructose intolerance 遗传性低镁血症Hereditary Hypomagnesemia 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) 家族性痉挛性截瘫Hereditary spastic paraplegia (HSP) 遗传性出血性毛细血管扩张症Heriditary hemorrhagic telangiectasia (HHT) 全羧化酶合成酶缺乏症Holocarboxylasesynthetase deficiency 同型半胱胺酸血症Homocysteinemia 纯合子家族性高胆固醇血症Homozygous Hypercholeasterolemia 亨廷顿舞蹈症Huntington disease (HD) HHH综合征Hyperornithinaemia-Hyperammonaemia-Hbomocitrullinuria Syndrome 高苯丙氨酸血症Hyperphenylalaninemia 高前列腺素e综合征（巴特综合征）Hyperprostaglandin E syndrome (Bartter syndrome) 季肋发育不全Hypochondroplasia 低血钾型周期性麻痹Hypokalemic periodic paralysis 低碱性磷酸酯酶血症Hypophosphatasia 低磷性佝偻病Hypophosphatemic rickets I 特发性肺纤维化Idiopathic Pulmonary Fibrosis 特发性心肌病Idiopathis Cardiomyopathy 特发性低促性腺激素性腺功能减退症Idiopathis Hypogonadotropic Hypogonadism IgG4相关性疾病IgG4 related Disease 自身免疫性肠病第Ⅰ型Immune dysregulation polyendocrinopathy enteropathy X linked syndrome （IPEX） 先天性胆酸合成障碍Inborn errors of bile acid synthesis 色素失禁症Incontinentiapigmenti 异戊酸血症Isovalericacidemia (IVA) J Joubert综合征Joubert syndrome K 歌舞伎面谱综合征Kabuki syndrome 卡尔曼综合征Kallmann syndrome 克氏综合征Klinefelter syndrome L 侏儒综合征Laron syndrome Leber遗传性视神经病变Leber hereditary optic neuropathy (LHON) Lennox gastaut综合征Lennox Gastaut syndrome (LGS) 肢带型肌营养不良Limb girdle muscular dystrophy (LGMD) 无脑回畸形Lissencephaly 长链3 羟酰基辅酶A脱氢酶缺乏症Long Chain 3 hydroxyacyl CoA Dehydrogenase Deficiency 淋巴管肌瘤病Lymphangioleiomyomatosis (LAM) 耐氨酸尿蛋白不耐受症Lysine Urinary Protein Intolerance 溶酶体酸性脂肪酶缺乏症Lysosomal acid lipase deficiency M 枫糖尿症Maple syrup urine disease (MSUD) 马凡综合征Marfan syndrome Mccune Albright综合征McCune Albright syndrome (MAS) 中链酰基辅酶A脱氢酶缺乏症Medium chain acyl CoA dehydrogenase deficiency(MCADD) 甲基丙二酸血症Methylmalonic academia (MA) 线粒体脑肌病Mitochodrial Encephalomyopathy 线粒体脑肌病伴高乳酸血症和脑卒中样发作（Melas综合征）Mitochondrial encephalopathy, lactic acidosis, andstroke-like episodes (MELAS) 烟雾病Moyamoya disease 粘多糖贮积症Mucopolysaccharidosis (MPS) 多灶性运动神经病Multi Focal Motor Neurothy 多种酰基辅酶A脱氢酶缺乏症Multiple Acyl CoA Dehydrogenase Deficiency 多发性骨骺发育不良Multiple epiphyseal dysplasia 多发性骨髓瘤Multiple myeloma 多发性硬化Multiple Sclerosis (MS) 多系统萎缩Multiple System Atrophy 重症肌无力Myasthenia gravis (MG) 骨髓增生异常综合征Myelodysplastic syndromes (MDS) 进行性骨化性肌炎Myositis ossificansprogressiva (MOP) 肌强制性营养不良Myotonic dystrophy (MD) N 轴前肢端骨发育不全Nageracrofacialdysostosis (Preaxialacrodysostosis) N 乙酰谷氨酸合成酶缺乏症NAGS Deficiency 指甲髌骨综合征（turner kieser综合征）Nail patella syndrome (Turner Kieser syndrome) 线粒体肌病Nemaline myopathy 新生儿糖尿病Neonatal Diabetes Mellitus 新生儿呼吸窘迫综合征Neonatal respiratory distress syndrome 竹节状毛发综合征（netherton综合征）Netherton syndrome 神经纤维瘤Neurofibromatosis (NF) 视神经脊髓炎Neuromyelitisoptica (NMO) 神经病 共济失调 色素性视网膜炎综合征Neuropathy ataxia, and retinitis pigmentosa (NARP syndrome) 尼曼 匹克氏病Niemann Pick disease (NPD) 非综合征性耳聋Non Syndromic Deafness 努南综合征Noonan syndrome (NS) O 鸟氨酸氨甲酰基转移酶缺乏症Ornithine Transcarbamylase Deficiency 成骨不全症（脆骨病）Osteogenesisimperfecta (OI) P 掌跖角化症Palmoplantarkeratoderma 帕金森病Parkinson Disease（Young onset，Early onset） 阵发性睡眠性血红蛋白尿症Paroxysmal nocturnal hemoglobinuria (PNH） 佩梅病Pelizaeus Merzbacher disease (PMD) 永久性新生儿糖尿病Permanent Neonatal Diabetes Mellitus 黑斑息肉综合征Peutz Jeghers syndrome (PJS) 苯丙酮尿症Phenylketonuria (PKU) POEMS综合征POEMS Syndrome 肺泡蛋白沉积症Polmonary Alveolar Proteinosis 肺囊性纤维化Polmonary Cystic Fibrosis 庞贝氏症Pompe disease 卟啉病Porphyria 普拉德 威利综合征Prader Willi syndrome (PWS) 原发性肉碱缺乏症Primary carnitine deficiency (PCD) 原发性联合免疫缺陷Primary Combined Immune Deficiency 原发性遗传性肌张力不全Primary Hereditary Dystonia 原发性轻链型淀粉样变Primary Light Chain Amyloidosis 特发性肺动脉高压Primary Pulmonary Hypertension (PPH) 进行性家族性肝内胆汁淤积症Progressive familial intrahepatic cholestasis 丙酸血症Propionic academia 假性软骨发育不全Pseudoachondroplasia 腹膜假黏液瘤Pseudomyxoma peritone (PMP) 朗格汉斯细胞组织细胞增生症Pulmonary Langerhans cell histiocytosis (PLCH) R X联锁鱼鳞病Recessive X linked ichthyosis 视网膜色素变性症Retinitis pigmentosa (RP) 视网膜母细胞瘤Retinoblastoma 雷特综合征Rett syndrome Rubinstein taybi综合征Rubinstein Taybi syndrome S 硬皮病Scleroderma 重症联合免疫缺陷Severe combined immunodeficiency (SCID) 重症先天性粒细胞缺乏症Severe congenital neutropenia 镰刀型细胞贫血症Sickle cell disease Silver Russell综合征Silver Russell Syndrome 谷固醇血症Sitosterolemia 脊髓延髓肌肉萎缩症（肯尼迪氏症）Spinal and bulbar muscular atrophy (Kennedy disease) 脊髓性肌萎缩症Spinal muscular atrophy (SMA) 脊髓小脑性共济失调Spinocerebellar ataxia (SCA) 系统性硬化症Systemic Sclerosis T 四氢生物蝶呤缺乏症Tetrahydrobiopterin deficiency 地中海贫血Thalassemia 结节性硬化症Tuberous sclerosis complex (TSC) 特纳综合征Turner syndrome 酪氨酸血症Tyrosinemia 原发性酪氨酸血症Tyrosinemia U 尿素循环障碍Urea cycle disorder V 极长酰基辅酶A脱氧酶缺乏症Very Long Chain Acyl CoA Dehydrogenase Deficiency 林岛综合征（vhl综合征）Von Hippel Lindau disease (VHL syndrome) W 威廉姆斯综合征Williams syndrome (WS) 肝豆状核变性Wilson disease (WD) 湿疹血小板减少伴免疫缺陷综合征Wiskott Aldrich syndrome (WAS) X X连锁肾上腺脑白质营养不良X linked adrenoleukodystrophy (XLD) 小儿X连锁无丙种球蛋白血症X linked agammaglobulinemia (XLA) X 连锁高igm综合征X linked hyper IgM syndrome X 连锁淋巴增生症X linked Lymphoproliferative Disease
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