HFEA批准的可用于PGD基因检测的遗传病清单清单内容Pre-implantation genetic diagnosis (PGD) is a technique that enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF for this genetic condition.移植前基因检测时是有特殊遗传疾病的患者可以避免遗传给下一代的技术.他是检查IVF过程中的胚胎基因.Before PGD clinics are permitted to test for a condition or combination of conditions, the HFEA must first agree that the condition they want to test for is sufficiently serious. This list of conditions are those that the HFEA has so far agreed that it is acceptable for clinics to use PGD to test for.在诊所获准检查某些基因前,这些他们想检测的状况必须是重要的,并且首先要被HFEA许可.下面的清单就是目前被HFEA许可检查的项目.OMIM编号OMIM stands for ‘Online Mendelian Inheritance in Man.’ An OMIM number is a way of cataloguing human genes and genetic conditions.OMIM是指孟德尔人类遗传在线,OMIM号是编目人类基因和遗传条件的方法.The HFEA, when approving genetic conditions for PGD, asks clinics to provide the relevant OMIM number for that condition. This ensures that the HFEA, the clinic, and any prospective patients can be clear about the conditions which have been approved for PGD.当HFEA认证PGD的检查内容时,要求诊所提供病患所涉及的OMIM号码.这样确保HFEA,诊所和病人能清楚地知道哪个病症是被允许使用PGD检测的.被HFEA获准检测的遗传病症以及对应的OMIM编号1(PIGN gene) Multiple CongenitalAnomalies Hypotonia – SeizuresSyndrome 1（Pign基因）多种先天性异常的肌张力–癫痫综合征1614080 25 Alpha Reductase Deficiency(5ARD) insofar as that conditionaffects males, with simultaneoussex determination5α-还原酶缺乏症（5ard）只要条件对男性产生影响，同时性的测264600 3Abetalipoproteinemia (also knownas aconthocytosis, microsomaltriglyceride transfer proteindeficiency and Bassen-Kornweigsyndrome)无β脂蛋白血症（也被称为aconthocytosis，微粒体甘油三酯转运蛋白缺陷和先天kornweig综合征2001004 Achondrogenesis Type 1a 软骨病1A型 6009725 Achondroplasia 软骨发育不全 1008006 Acute Intermittent Porphyria 急性间歇性卟啉病 1760007Acute Recurrent AutosomalRecessive Rhabdomyolysis(ARARRM)急性复发性常染色体隐性遗传的横纹肌溶解（ararrm）268200 8Adrenoleukodystrophy(Adrenomyeloneuropathy)肾上腺脑白质营养不良（肾上腺） 3001009 Agammaglobulinaemia (x-linked) （X连锁无丙种球蛋白血症） 30075510Agammaglobulinemia BrutonTyrosine Kinase (BTK)无丙种球蛋白血症布鲁顿酪氨酸激酶（BTK）30030011Aicardi Goutieres Syndrome 1(AGS1)goutieres Aicardi综合征1（AGS1）22575012 Alagille Syndrome Alagille综合征11845013 Alpers Syndrome Alpers综合征20370014 Alpha-1-antitrypsin deficiency α1-抗胰蛋白酶缺乏+107400 (where two Zalleles are inherited)15 Alpha-Mannosidosis α-甘24850016Alpha Thalassaemia/mentalretardation Syndrome*α地中海贫血/智力低下综合征30104017 Alpha Thalassemia α-地中海贫14180018 Alport Syndrome Alport综合征20378019 Alports Syndrome Alport综合征30105020Alports Syndrome (AutosomalDominant)Alport综合征（常染色体显性遗传）10420021Alzheimer's Disease - early onset(Type 3 and 4)阿尔茨海默病-早发（3型和4型）607822/ 60688922 Alzheimers Disease - early onset 老年痴呆症早期发病 10430023Amyotrophic Lateral Sclerosis 1 (ALS1)肌萎缩侧索硬化症1（白色念珠菌）105400 24 Anauxetic Dysplasia anauxetic 发育不良 607095 25 Anderson Fabry Disease 安德森-法布里病 301500 26 Androgen Insensitivity Syndrome 雄激素不敏感综合征300068 27Angelman Syndrome (UBE3A gene only)Angelman 综合征（UBE3A 基因只）105830 28 Aniridia无虹膜10621029 Aplastic anaemia - severe* 再生障碍性贫血-严重* 30 Argininosuccinic Aciduria精氨基琥珀酸20790031 Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia(ARVC/D), Autosomal Dominant 致心律失常性右室心肌病（ARVC / D ）/发育不良，常染色体显性遗传32Arthrogryposis renal dysfunction and cholestasis type 1 and type 2关节挛缩肾功能障碍和胆汁淤积的1型和2型208085, 61340433 Ataxia Telangiectasia 共济失调毛细血管扩张症 208900 34Autosomal Dominant Acute Necrotizing Encephalopathy 常染色体显性急性坏死性脑病60803335 Autosomal dominant familial exudative vitreoretinopathy types1, 5 and 4, 常染色体显性遗传的家族性渗出性玻璃体视网膜病变类型1，5和4，133780, 613310,601813 36 Autosomal Dominant Polycystic Kidney Disease (ADPKD) 常染色体显性遗传性多囊肾病（ADPKD ）173900 37 Autosomal Dominant Retinitis Pigmentosa常染色体显性遗传性视网膜色素变性604485 38Autosomal Recessive Dopa Responsive Dystonia 常染色体隐性遗传性多巴反应性肌张力障碍23391039Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD)常染色体隐性遗传性重症联合免疫缺陷的双侧感音神经性聋（arscidbsd ）26750040 Bardet-Biedl Syndrome (BBS) Bardet-Biedl 综合征（BBS ） 209900 41 Barth Syndrome 巴特综合征302060 42Bartter Syndrome, Types 1, 2, 3, 4a & 4bBartter 综合征，类型1，2，3，4a 和4b601678, 241200, 607364, 602522,613090 43 Battens Disease (infantile)压条病（小儿）204200 44 Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (MethacrylicAciduria)β-羟异丁酰基辅酶A 水解酶缺乏（甲基丙二酸尿症 250620 45 Beta Thalassaemia* β-地中海贫血 141900 46 Bethlem MyopathyBethlem 肌病 15881047Bilateral Frontoparietal Polymicrogyria双侧额顶叶多小脑回 606854 48 Birt-Hogg-Dubé Syndrome BIRT 霍格配音é综合征 135150 49 Bloom Syndrome 开花综合征210900 50 Branchio-Oto-Renal Syndrome (BOR)鳃耳肾综合征（BOR ）11365051 BRCA 1 (increased susceptibility to breast cancer)BRCA 1（乳腺癌的易感性增加） 113705 52Breast Ovarian Cancer Familial Susceptibility (BRCA2)乳腺癌、卵巢癌的家族易感性（BRCA2） 612555/60018553 Calpainopathy calpainopathy 253600 54 Canavan DiseaseCanavan 病 271900 55 Cardiac Valvular Dysplasia 心脏瓣膜发育不良 314400 56 Carney Complex Carney 综合征160980 and 60522457Carnitine AcylcarnitineTranslocase Deficiency (CACT)肉碱脂酰转移酶缺乏症（CACT ） 212138 58 Cartilage-Hair Hypoplasia 软骨毛发发育不全 250250 59 Cartilage-hair hypoplasia spectrum软骨毛发发育不全谱15766060Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1) 儿茶酚胺敏感性多形性室性心动过速（cpvt1）60477261 Catecholaminergic Polymorphic Ventricular Tachychardia 2(CPVT2) 儿茶酚胺敏感性多形性室tachychardia 2（cpvt2） 61193862Central Core Disease of Muscle (CCD)肌肉核心病（CCD ）11700063Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL) 常染色体显性遗传性脑皮层下梗死和白质脑病（CADASIL ）12531064 Cerebral Cavernous Malformations (CCM) 海绵状血管畸形（CCM ） 11686065 Charcot Marie Tooth Disease (x-linked)夏玛丽牙齿疾病（性） 30280066 Charcot Marie Tooth Disease Type 2夏玛丽齿病2型 60926067Charcot Marie Tooth Disease, demyelinating type 1A (CMT1A)夏玛丽齿病、脱髓鞘1A 型（CMT ）118220 68 CHARGE Syndrome 收费综合征 214800 69 Chondrodysplasia Punctata 软骨发育异常 302950 70 Choroideraemia choroideraemia 303100 71 Christianson syndromeChristianson 综合征 30024372 Chromosomal rearrangements (various)染色体重排（不同）73Chronic Granulomatous Disease (CGD)慢性肉芽肿病（CGD ） 306400 74 Citrullinaemia type 1瓜氨酸血症1型 215700 75 Classical Ehlers Danlos Syndrome 经典埃勒斯综合征 130000/13001076 Coffin-Lowry Syndrome 综合征 303600 77 Cohen Syndrome 科恩综合征216550 78 Congenital Adrenal Hyperplasia (21 hydroxylase deficiency) 先天性肾上腺皮质增生症（21） 20191079 Congenital ContractualArachnodactyly (Beals Syndrome)先天性契约马凡氏综合征（Beals 综合征）121050 80 Congenital contractual syndrome 7先天性契约综合征761628681 Congenital Disorder of Glycosylation type 1a 1a 型糖基化的先天性疾病 212065 82 Congenital Dyserythropoietic Anaemia types 1a, 1b and 2 先天性纯红细胞再生障碍性贫血类型1A ，1B 和2 224120, 615631,224100 83 Congenital Fibrosis of the extraocular muscles先天性眼外肌纤维化13570084 Congenital Myasthenic Syndrome (COLQ gene 603033) (Type Ic) 先天性肌无力综合征（COLQ 基因603033）（IC ） 603034 85 Congenital Secretory Chloride Diarrhoea先天性分泌性氯化物腹泻21470086 Congenital stationary night blindness先天性静止性夜盲 31050087Conradi-Hunermann-Happle Syndrome康-许二氏综合征的快乐 30296088 Cowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome(PHTS)Cowden 综合征（CS ）/ PTEN 错构瘤肿瘤综合征（矩） 601728 89 Craniofrontal Dysplasia craniofrontal 发育不良 304110 90 Crouzon Syndrome Crouzon 综合征 123500 91 Cystic Fibrosis 囊性纤维化 219700 92 Cystinosis胱氨酸21980093Czech Dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes 捷克发育不良、跖骨型又称进Pseudorheumatoid 发育不良和发育不全的脚趾60916294Dentatorubral-Pallidoluysian Atrophy (DRPLA)dentatorubral- pallidoluysian 萎缩（DRPLA ）125370 95 Desbuquois Dysplasia (DBQD)desbuquois 发育不良（二苯甲酰苯251450醌二肟）96 Diamond Blackfan Anaemia* 镰状细胞贫血*10565097Diarrheoa 5 with tuftingenteropathy congenital5先天性diarrheoa绒肠病61321798Dilated Cardiomyopathy causedby a mutation in the Tropomyosinalpha-1 chain扩张型心肌病引起的原肌球蛋白α链基因突61187899Dilated Cardiomyopathy type 1Acaused by a mutation in the LMNAgene扩张型心肌病1A型由LMNA基因突变引起的115200 100Distal Hereditary MotorNeuropathy type IIB远端型遗传性运动神经病IIB型 608634 101Distal Renal Tubular Acidosis withprogressive nerve deafness远端肾小管性酸中毒与渐进性神经性聋602722, 267300 102Dominant DystrophicEpidermolysis Bullosa显性营养不良型大疱性表皮松解症 131750 103 Donohue Syndrome 多诺霍综合征 246200 104 Downs Syndrome 唐氏综合征 190685 105 Dravet Syndrome Dravet综合征607208 106Dyskeratosis congenita (Maleembryos only)先天性角化不良（男性胚胎只有） 305000 107Dyskeratosis Congenita due toTERC mutation先天性角化不良由于TERC突变 127550 108Dystonia 1 Torsion AutosomalDominant (DYT1)1扭转肌张力障碍的常染色体显性遗传（DYT1）128100 109Ectodermal dysplasia(Hypohidrotic)外胚层发育不良（汗） 305100 110Ectrodactyly, EctodermalDysplasia, Clefting Syndrome(EEC)缺指畸形，外胚层发育不良、唇腭裂综合征（EEC）129900 111 Ehlers-Danlos Type IV 埃勒斯- IV型 130050 112Elastin (ELN)-relatedSupravalvular Aortic Stenosis弹性蛋白（ELN）相关的主动脉瓣上狭窄185500 113 Ellis-Van Crevald Syndrome 埃利斯范crevald综合征 225500 114Emery-Dreifuss MuscularDystrophy (x-linked) (EDMD)(Male embryos only)Emery-Dreifuss肌营养不良症（X）（EDMD）（男性胚胎只有）310100 115Epidermolysis bullosa, lethalacantholytic大疱性表皮松解症，致死性棘层松解609638 116Epilepsy, female restricted, withmental retardation (EFMR)癫痫，女性受到限制，精神发育迟滞（EFMR）300088 117 Episodic Ataxia Type 2 发作性共济失调2型 108500118Facioscapulohumeral Dystrophy (FSH)面肩肱型营养不良症（FSH ） 158900 119 Factor XIII deficiency 因子XIII 缺乏613225 120Familial Adenomatous polyposis coli (FAP)家族性腺瘤性息肉（FAP ）175100121 Familial Dilated Cardiomyopathy caused by mutations inTROPONIN T2 gene (TNNT2) 家族性扩张型心肌病的心肌肌钙蛋白T2基因突变引起（TNNT2） 191045 122 Familial Dysautonomia 家族性自主神经功能障碍 223900 123 Familial Hemophagocytic Lymphohistiocytosis (FHL) 家族性噬血细胞综合征（FHL ）603553124 Familial Hemophagocytic Lymphohistiocytosis 5 家族性噬血细胞综合征5 613101125Familial Hypertrophic Cardiomyopathy 4 (CMH4) 家族性肥厚型心肌病（cmh4）4 115197126 Familial HypertrophicCardiomyopathy type 1, 3, 7 and10 家族性肥厚型心肌病1型、3型、7型和10型192600, 115196, 613690, 608758127Familial Paranganglioma Syndrome (PGL1)家族性paranganglioma 综合征（PGL1） 168000 128 Fanconis Anaemia A* 范科尼贫血* 607139 129 Fanconis Anaemia C*范科尼贫血C *227645 130 Fetal Akinesia Deformation Sequence (Pena-Shokeirsyndrome type 1)胎儿运动不能变形序列（佩纳-Shokeir 综合征1型） 208150 131 Finnish Nephrotic Syndrome 芬兰肾病综合征 256300 132 Focal Dermal Hypoplasia 局灶性真皮发育不全 305600 133 Fragile X Syndrome (FRAX) 脆性X 综合征（FRAX ） 309550 134 Fraser Syndrome 弗雷泽综合征 219000 135 FRAXE FRAXE 309548 136 Fried Syndrome油炸综合征 300630 137 Frontometaphyseal Dysplasia 额骨干骺端发育不良 305620 138 Frontotemporal Dementia 额颞叶痴呆600274 139Frontotemporal Dementia with Parkinsonism额颞叶痴呆症与帕金森氏症 607485 140 Galactosaemia 半乳糖血症230400 141Galactosialidosis (early infantile and adult/ juvenile types)galactosialidosis （幼儿和成人/青少年型）256540 142 Gangliosidosis (GM1) 神经节苷脂（GM1） 230500 143 Gaucher Disease Type II 戈谢病II 型 230900 144 Gaucher Disease Type III 戈谢病Ⅲ型 231000 145 Glanzmann Thrombasthenia血小板无力症 273800146 Glutaric Acidemia (aciduria) 戊二酸血症（尿） 231670 147Glycogen Storage Disease II(Pompe Disease (early onset))糖原累积病II型（Pompe病（发病早期））232300 148Glycogen Storage Disease TypeIa糖原累积病类型 232200 149 Gonadal mosaicism 性腺嵌合体150 Gorlin Syndrome Gorlin综合征109400 151 Greig Cephalopolysyndactyly 基利cephalopolysyndactyly175700 152 Haemoglobin SC disease 血红蛋白病 141900.0038 153 Haemophilia A 血友病A306700 154 Haemophilia B B型血友病306900 155 Hereditary diffuse gastric cancer 遗传性弥漫性胃癌 137215 156Hereditary HaemorrhagicTelangiectasia (HTT) orRendu-Osler-Weber Syndrome遗传性出血性毛细血管扩张症（HTT）或Rendu-Osler-Weber综合征187300 157Hereditary Multiple ExostosesType II遗传性多发性骨软骨瘤II型 133701 158Hereditary NonpolyposisColorectal Cancer: LynchSyndrome (for all subtypes)遗传性非息肉病性大肠癌：Lynch综合征（所有类型）159 Holt Oram Syndrome 心手综合征 142900 160 Homocystinuria 高胱氨酸尿症 236200 161Homozygous familialhypercholesterolaemia纯合子家族性高胆固醇血症 143890 162Huntington Disease (HuntingtonChorea)Huntington舞蹈病（Huntington舞蹈病）143100 163 Hydrocephalus 脑积水 307000 164Hydroxyisobuyryl CoA HydrolaseDeficiencyhydroxyisobuyryl CoA水解酶缺乏250620 165Hyper-IgE Recurrent InfectionSyndrome, Autosomal Dominant高IgE综合征复发性感染，常染色体显性遗传147060 166Hyper IgM Syndrome -Hypogammaglobulinaemia*高IgM综合征-低丙种球蛋白血症*300386 167Hyperphosphatasia with MentalRetardation Syndrome 4(HPMRS4)智力低下综合征4高磷酸酯酶（hpmrs4）615716 168 Hypochondroplasia 软骨发育不良 146000 169Hypophosphatasia(Infantile/perinatal lethal)低磷酸酯酶症（婴儿/围产期致死）241500 170Hypophosphatemic Rickets(x-linked dominant) (Xlh)低磷性佝偻病（X连锁显性）（XLH）307800 171 Hypospadias (severe) 尿道下裂（严重）172 Ichthyosis (Harlequin) 鱼鳞病（丑角） 242500173 Ichthyosis (x-linked) 鱼鳞病（X-linked） 308100174 ichthyosis with confetti 鱼鳞病与纸屑 609165175 Ichythosis hystrix of Curth-Macklin ichythosis锥库斯麦克林146590176Idiopathic Arterial Calcification ofInfancy婴儿期特发性动脉钙化 208000177 Incontinentia Pigmenti (IP) 色素失调症（IP） 308300178 Infantile Neuroaxonal Dystrophy 1小儿营养不良1256600179Inflammatory Bowel Disease,Early-onset (IBD28)炎症性肠病发病早期（ibd28） 613148/ 612567 180IPEX Syndrome(Immunodeficiency,Polyendocrinopathy andEnteropathy, X-Linked)IPEX综合征（免疫缺陷，多和肠病，连锁）304790181 Joubert Syndrome 5, 朱伯特综合征5， 610188182 Joubert Syndrome 6 朱伯特综合征6610688183 Juvenile Polyposis Syndrome 幼年性息肉病综合征 174900184Kearns Sayre Syndrome (KSS)/Pearsons Marrow-PancreasSyndrome (PMPS)卡恩斯综合征（KSS）/皮尔逊骨髓胰腺综合征（PMP）530000/ 557000 185 Krabbe Disease Krabbe病245200186 L–2-Hydroxyglutaric aciduria 我–2-hydroxyglutaric尿 236792187Lacrimo-auriculo-dento-digitalsyndrome泪耳牙数字综合征 149730188Leber's Hereditary OpticNeuropathy (LHON) / Lebers OpticatrophyLeber遗传性视神经病变（LHON）/勒伯尔视神经萎缩535000189Leber Congenital Amaurosis(LCA)Leber先天性黑朦（LCA）204000 / 204100 190Leber congenital amaurosis, type7 (autosomal recessive only)Leber先天性黑蒙、7型（常染色体隐性遗传的）613829191Leber congenital amaurosis, types3, 4, 5, 6, 8, 9, 10, 12, 13, 14, 15,16, 17Leber先天性黑蒙，类型3，4，5，6，8，9，10，12，13，14，15，16，17604232, 604393,604537, 613826,613835, 608553,611755, 613837,610612, 612712,613341, 613843, 6141 192Leigh's (subacute necrotisingencephalopathy of childhood)Leigh（亚急性坏死性脑病儿童）516000; 516002;516005; 516006 193Leigh Syndrome (InfantileSubacute NecrotisingEncephalopathy)Leigh综合征（小儿亚急性坏死性脑病）185620194 Lenz Syndrome 伦茨综合征 309800195 Lesch Nyan Syndrome 自毁Nyan综合征 300322196Lethal Multiple PterygiumSyndrome (LMPS)致命的多发性翼状胬肉综合征（LMPS）253290197Leukocyte Adhesion Deficiency(Type I)*白细胞粘附缺陷（Ⅰ型）*116920198Leukoencephalopathy withVanishing White Matter消失的白质脑病 603896199 Lewy body dementia Lewy体痴呆127750200 Li-Fraumeni Syndrome Li-Fraumeni综合征151623201 Lissencephaly, type 3 无脑回，3型 611603202Long Chain 3-hydroxyacyl-CoADehydrogenase Deficiency(LCHAD)长链3-羟酰基辅酶A脱氢酶缺乏症（LCHAD）609016203Long QT Syndrome Types 1, 2, 3,5 & 6长QT综合征1型，2，3，5和6192500, 613688,603830, 613695,613693204Lowe OculocerebrorenalSyndromeLowe oculocerebrorenal综合征309000205 Lymphoproliferative Syndrome 淋巴细胞增生综合征 308240206Macular Dystrophy (childhoodonset - variant of Retinitispigmentosa)黄斑营养不良（视网膜色素变性儿童发病变）312600207 Macular Dystrophy Retinal 2 黄斑营养不良视网膜2608051208 Malignant Infantile Osteopetrosis 恶性婴儿石骨症 259700209Maple Syrup Urine Disorder(MSUD)枫糖尿症（MSUD） 248600210 Marfan Syndrome 马凡氏综合征 154700211Meckel-Gruber Syndrome Types1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11Meckel-Gruber综合征类型1，2，3，4，5，6，7，8，9，10和11249000, 603194,607361, 611134,611561, 612284,267010, 613885,614209, 614175 and615397212Medium-chain acyl-Co Adehydrogenase中链酰基辅酶A脱氢酶 231680213Medium-Chain Acyl-CoADehydrogenase Deficiency中链酰基辅酶A脱氢酶缺乏症 201450214MELAS (MitochondrialEncephalomyopathy, LacticAcidosis and Stroke-like episodes)MELAS（线粒体脑肌病，乳酸性酸中毒和卒中样发作）590050215 Melnick Needles Syndrome 骨结构不良 309350216 Menkes Syndrome Menkes综合征309400 217 Metachromatic Leukodystrophy 异染性脑白质营养不良 250100218Metaphyseal Dysplasia withoutHypotrichosis干骺发育不良不稀 250460 219Methylmalonic Aciduria andHomocystinuria甲基丙二酸尿症、高胱氨酸尿症 277400220 Micro Syndrome (WARBM) 微综合征（warbm） 600118 221Microcephaly with or withoutchorioretinopathy, lymphoedemaor mental retardation小头畸形伴或不伴视网膜脉络膜病变、淋巴水肿或精神发育迟滞152950 222Mitochodrial Trifunctional ProteinDeficiency线粒体三功能蛋白缺乏症 609015 223Mitochondrial Complex 1Deficiency caused by mutation inACAD9 gene线粒体复合物1缺乏acad9基因突变引起的611126 224Mitochondrial Complex 1Deficiency caused by mutation inthe NDUFS6 gene线粒体复合物1的缺陷，在ndufs6基因突变引起的603848 225Mitochondrial DNA DepletionSyndrome 2 (myopathic type)线粒体DNA缺失综合征2（肌型）609560226 Mucolipidosis type II II型粘脂贮积症252500227Mucopolysaccharidosis III(MPS-III) Type B黏多糖贮积症III（mps-iii）B型 252920 228Mucopolysaccharidosis III(MPS-III) Type C黏多糖贮积症III（mps-iii）C型 252940 229Mucopolysaccharidosis III(MPS-III) Type D黏多糖贮积症III（mps-iii）D型 252930230 mucopolysaccharidosis IVA 粘多糖贮积症IVA253000231Mucopolysaccharidosis Type I(MPS I)粘多糖贮积症I型（MPS）607014, 607015,607016232Mucopolysaccharidosis Type II(Hunter Syndrome)黏多糖贮积症II型（Hunter综合征）309900 233Mucopolysaccharidosis Type III A(Sanfilippo syndrome A)粘多糖贮积症III型（Sanfilippo综合征）252900 234Mucopolysaccharidosis Type VI(MPS VI) (Maroteaux-LamySyndrome)VI型粘多糖贮积症（MPS VI）（Maroteaux-Lamy综合征）253200 235 Muenke Syndrome Muenke综合征602849 236Multiple acyl-CoA dehydrogenasedeficiency (MADD) (also known asglutaric aciduria type II)多种酰基辅酶A脱氢酶缺乏症（MADD）（也被称为戊二酸尿症II型）231680 237 Multiple Endocrine Neoplasia 多内分泌腺瘤病2A型（MEN 2A）171400Type 2A (MEN 2A)238Multiple Endocrine Neoplasia type2B (MEN 2B)多发性内分泌腺瘤病2B型（MEN2B）162300 239Multiple Endocrine NeoplasiaType I多发性内分泌肿瘤Ⅰ型 131100 240Multiple Epiphyseal DysplasiaType 5 (MED5)多发性骨骺发育不良5型（MED5）607078 241 Multiple Exostoses 多发性骨软骨瘤 133700 242Multiple Lentigines Syndrome(LEOPARD Syndrome)多发性错构瘤综合征（豹综合征） 151100 243Multiple Pterygium SyndromeLethal Form(LMPS)多发性翼状胬肉综合征致死型（LMPS）253290 244Musculardystrophy-dystroglycanopathy,type A1 (Walker WarburgSyndrome)肌营养不良dystroglycanopathy，A1型（沃克华宝综合征）236670 245Musculardystrophy-dystroglycanopathy,type A3 (muscle-eye-braindisease)肌营养不良dystroglycanopathy，A3型（肌眼脑疾病）253280 246Musculardystrophy-dystroglycanopathy,type A5肌营养不良dystroglycanopathy，A5型613153 247Musculardystrophy-dystroglycanopathy,types A2, A4, A6-A8 and A10-A14肌营养不良类型dystroglycanopathy，A2、A4、输出和a10-a14613150, 253800,613154, 614643614830, 615041,615181, 615249,615287, 615350 248 Muscular Dystrophy (Beckers) 肌营养不良症（好的） 300376 249 Muscular Dystrophy (Duchenne) 肌营养不良症（Duchenne） 310200 250Muscular Dystrophy(Oculopharangeal)肌营养不良症（oculopharangeal）164300 251Muscular dystrophy, Limb-Girdle(LGMD) Type 1B肌营养不良、肢带型（LGMD）1b型159001 252Myoclonic Epilepsy and RaggedRed Fibres (MERRF)肌阵挛性癫痫和破碎红纤维（MERRF）253Myoclonic epilepsy associatedwith ragged-red fibres (associatedmutation, m.8344 A>G in theMTTK gene)肌阵挛性癫痫破碎红纤维相关（相关的突变，m.8344一> G在吗科基因）545000254 Myotonic Dystrophy 强直性肌营养不良症 160900 255 Myotubular myopathy 肌管性肌病 310400/300219 256 Nail-Patella Syndrome 指甲-髌骨综合征 161200257 Nance-Horan Syndrome 南希霍兰综合征 613101258 Nance-Horan Syndrome 南希霍兰综合征 302350259Nephrogenic Diabetes Insipidus(NDI)肾源性尿崩症（NDI） 304800260 Neurofibromatosis type 1 神经纤维瘤病1型 162200261 Neurofibromatosis Type 2 神经纤维瘤病2型 101000262Neurogenic muscle weakness,Ataxia, Retinitis Pigmentosa(NARP)神经性肌肉无力、共济失调、视网膜色素变性（NARP）516060263 Niemann Pick Disease Type A 尼曼病型 257200264 Niemann Pick Disease Type C 尼曼病型 257220265non-Herlitz JunctionalEpidermolysis Bullosa非赫利茨交界性大疱性表皮松解症 226650266Non-Ketotic Hyperglycinaemia(NKH)/ Glycine Encephalopathy(GCE)非酮症hyperglycinaemia（NKH）/甘氨酸脑病（GCE）605899267 Noonan Syndrome 努南综合征 163950268 Norrie Disease Norrie 310600269 Oculocutaneous Albinism Type 1A眼皮肤白化病1A型 203100270 Oculocutaneous Albinism Type 1B眼皮肤白化病1B型 606952271 Omenn Syndrome Omenn综合征603554272 Optic Atrophy 1 视神经萎缩1165500273Ornithine carbamoyltransferaseDeficiency (OTC)鸟氨酸氨甲酰转移酶缺乏症（OTC）300461274Ornithine transcarbamylasedeficiency (OTD)鸟氨酸氨甲酰转移酶缺乏症（OTD）311250275 Osteogenesis Imperfecta type 1A 成骨不全症1A型 166240276 Osteogenesis Imperfecta Type II 成骨不全症II型 120160277 Osteogenesis Imperfecta Type III 成骨不全症III型 259420278Osteogenesis Imperfecta type IV ,type V , type VI成骨不全症IV型、V型、VI型 166220/610967/610968 279 Osteogenesis Imperfecta Type VIII成骨不全症Ⅷ型 610915280Osteogenesis Imperfecta Type1(OI1)成骨不全症I型（油） 166200281Osteopetrosis with Renal TubularAcidosis (OPTB3)肾小管酸中毒症（optb3） 259730282Osteopetrosis, AutosomalRecessive 5 (OPTB5) andOsteopetrosis, Infantile Malignant3骨硬化病，常染色体隐性遗传5（optb5）和骨质疏松症，小儿恶性肿瘤的3259720283Ostheopathia Striata with CranialSclerosis (OSCS)ostheopathia及颅硬化（OSCS）300373284 Otopalatodigital syndrome Type 2耳腭指综合征2型 304120285 Otopalatodigital type 1 耳腭指型1311300286 Pachyonychia Congenita Type 1 先天性厚甲1型 167200287 Paragangliomas 4 (plg 4) 副神经节瘤4（G 4） 115310288 Parkinson’s disease 1 帕金森病1168601289 Parkinson’s disease 4 帕金森病4605543290Partial androgen insensitivitysyndrome due to defects in theandrogen receptor gene雄激素受体基因缺陷引起的部分雄激素不敏感综合征312300291Partial Lipodystrophy, FamilialType 2局部脂肪代谢障碍，家族性2型 151660292 Pelizaeus Merzbacher Disease Pelizaeus-Merzbacher病312080/311601 293 Pendred Syndrome Pendred综合征274600294Peroxisome Biogenesis Disorders(PBD) (Zellweger SyndromeSpectrum (ZSS))过氧化物酶体的生物合成障碍（PBD）（齐薇格综合征谱（ZSS））295 Phenylketonuria (PKU) 苯丙酮尿症（PKU） 261600296Plakophilin 1 (PKP1) associatedectodermal dysplasia syndromeplakophilin 1（相关）相关的外胚层发育不良综合征601975297 Polycystic kidney disease 多囊肾病 263200298Pontocerebellar Hypoplasia type1a, type 2a, type 2b, type 2c, type2d , type 3, type 4, type 6脑桥小脑发育不全型1A，2A，2B型，2C型，2型，3型，4型，6型607596 / 277470 /612389 / 612390 /613811 / 608027 /225753 / 611523 299Pontocerebellar Hypoplasia type1B (PCH1B)脑桥小脑发育不全型1b（pch1b） 614678300 Popliteal Pterigum Syndrome 腘pterigum综合征 119500301 Porencephaly 1 脑穿通畸形1175780302 Prader Willi Syndrome Prader-Willi综合征176270303Progressive Familial IntrahepaticCholestasis Type 1 (PFIC1)进行性家族性肝内胆汁淤积症1型（PFIC1）211600304 Propionic Acidemia 丙酸血症 606054305 Pseudoachondroplasia 假性软骨发育不全 177170306Pseudohypoparathyroidism(PHP1a)假性甲状旁腺功能减退症（PHP1a）103581307 Pyrodoxine-dependent seizures pyrodoxine依赖性癫痫发作266100308Pyruvate dehydrogenase E1-alphadeficiency X-linked丙酮酸脱氢酶E1α缺乏连 312170309Pyruvate Dehydrogenase E1-betaDeficiency丙酮酸脱氢酶E1β不 179060310Recessive DystrophicEpidermolysis Bullosa*隐性营养不良性大疱性表皮松解症*（halleau西门子与赫利茨交界处）various(Halleau-Siemens & Herlitzjunctional)311 Recurrent Digynic Triploidy 复发的digynic三倍体312Recurrent hydatitiform mole(HYDM1)复发性hydatitiform摩尔（hydm1）231090313 Renal Coloboma Syndrome 肾功能缺损综合征 120330314 Renal Cysts and Diabetes (RCAD)肾囊肿和糖尿病（RCAD）Renal Cysts andDiabetes (RCAD) 315Retinitis Pigmentosa (autosomaldominant)视网膜色素变性（常染色体显性遗传）180100316Retinitis Pigmentosa (RP3)(x-linked)视网膜色素变性（RP3）（X） 300029317 Retinitis Pigmentosa (x-linked) 视网膜色素变性（性） 300455318Retinitis Pigmentosa Type 11(RP11)视网膜色素变性11型（AA） 600138319 Retinitis Pigmentosa type 7 视网膜色素变性7型 608133320 Retinoblastoma 视网膜母细胞瘤 180200321 Retinoschisis (Juvenile) 劈裂（少年） 312700322Rett Syndrome (RTT) andNeonatal Encephalopathy雷特综合征（RTT）和新生儿脑病 312750 / 300673 323Rhesus disease/ HaemolyticDisease of the Newborn (HDN)恒河病/溶血的新生儿疾病（HDN）324 Rigid spine muscular dystrophy 强直性肌营养不良 602771325Rothmund-Thomson Syndrome(RTS)Rothmund-Thomson综合征（RTS）268400326 Saethre-Chotzen Syndrome (SCS)Saethre-Chotzen综合征（SCS）101400327 Sandhoff Disease Sandhoff病268800328 Sanjad Sakati Syndrome (SLSN6)sanjad sakati综合征（slsn6）241410329 Senior Loken Syndrome 6 高级洛肯综合征6610189330Sensorineural deafness -autosomal recessivenon-syndromic感音神经性耳聋-常染色体隐性遗传性非综合征型220290331Severe Combined ImmuneDeficiency (x-linked)重症联合免疫缺陷（X） 300400332Severe CombinedImmunodeficiency – autosomalrecessive重症联合免疫缺陷-常染色体隐性遗传600802333Severe CombinedImmunodeficiency (SCID)重症联合免疫缺陷（SCID） 601457334Severe CombinedImmunodeficiency (SCID)(Adenosine Deaminase (ADA)重症联合免疫缺陷（SCID）（腺苷脱氨酶（艾达）缺乏）102700deficient)335 Sickle Cell Anaemia* 镰刀细胞性贫血*603903336Simpson Golabi BehmelSyndrome Type 1辛普森- behmel综合征1型312870 (to detectaffected males) 337Smith Lemli Opitz Syndrome(SLO)Smith-Lemli-Opitz综合征（SLO）270400338 Sotos Syndrome 索托斯综合征 117550339 Spastic paraplegia 痉挛性截瘫340Spinal and Bulbar MuscularAtrophy X-linked (Kennedydisease) (in affected malesembryos)脊髓和延髓肌萎缩性（甘乃迪病）（在男性胚胎）313200341 Spinal Muscular Atrophy (SMA1) 脊髓性肌萎缩症（SMA1） 253300342Spinal Muscular Atrophy andRespiratory Distress (SMARD1)脊髓性肌萎缩和呼吸窘迫（SMARD1）604320343 spinal muscular atrophy type 1 脊髓型肌萎缩1型 253550344 spinal muscular atrophy type 2 脊髓型肌萎缩2型 253400345 Spinocerebellar Ataxia 7 (SCA 7) 脊髓小脑共济失调7型（SCA 7） 164500346Spinocerebellar Ataxia Type 1(SCA1)脊髓小脑共济失调1型（SCA1） 164400347 Spinocerebellar ataxia type 14 脊髓小脑共济失调14型 605361348Spinocerebellar Ataxia Type 2(SCA2)脊髓小脑共济失调2型（SCA2） 183090349Spinocerebellar Ataxia Type 3(SCA 3) (Machado JosephDisease)脊髓小脑共济失调3型（SCA 3）（Machado-Joseph病）109150350Spinocerebellar Ataxia Type 6(SCA6)脊髓小脑共济失调6型（SCA6） 183086351Spondyloepimetaphysealdysplasia, Strudwick先天性脊柱骨骺发育不良，斯特拉德威克184250352Spondyloepiphyseal DysplasiaCongenita先天性脊柱骨骺发育不良 183900353Stickler Syndrome Type I, II, IIIand IVStickler综合征类型I，II，III和IV108300/609508,604841, 184840,120210354Stuve-Wiedemann Syndrome(Schwartz-Jampel Type 2syndrome)史提维体综合征（施瓦兹-Jampel 2型综合征）601559355Succinic SemialdehydeDehydrogenase Deficiency(SSADHD)琥珀酸半醛脱氢酶缺乏症（ssadhd）271980。