序号中文名称1234567101112131415161718192021222324252627282930313233
21-羟化酶缺乏症白化病Alport综合征肌萎缩侧索硬化
Angelman氏症候群（天使综合征）精氨酸酶缺乏症
热纳综合征（窒息性胸腔失养症）非典型溶血性尿毒症自身免疫性脑炎自身免疫性垂体炎自身免疫性胰岛素受体病β-酮硫解酶缺乏症生物素酶缺乏症心脏离子通道病原发性肉碱缺乏症Castleman病腓骨肌萎缩症瓜氨酸血症
先天性肾上腺发育不良先天性高胰岛素性低血糖血症先天性肌无力综合征
先天性肌强直（非营养不良性肌强直综合征）先天性脊柱侧弯冠状动脉扩张病
先天性纯红细胞再生障碍性贫血Erdheim-Chester病法布雷病家族性地中海热范可尼贫血半乳糖血症戈谢病
全身型重症肌无力Gitelman综合征
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戊二酸血症I型
糖原累积病（I型、Ⅱ型）血友病肝豆状核变性遗传性血管性水肿遗传性大疱性表皮松解症遗传性果糖不耐受症遗传性低镁血症
42遗传性多发脑梗死性痴呆
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遗传性痉挛性截瘫全羧化酶合成酶缺乏症同型半胱氨酸血症
纯合子家族性高胆固醇血症亨廷顿舞蹈病HHH综合征高苯丙氨酸血症低碱性磷酸酶血症低磷性佝偻病特发性心肌病
特发性低促性腺激素性性腺功能减退症特发性肺动脉高压特发性肺纤维化IgG4相关性疾病先天性胆汁酸合成障碍异戊酸血症卡尔曼综合征
朗格汉斯组织细胞增生症莱伦氏综合征
Leber遗传性视神经病变长链3-羟酰基辅酶A脱氢酶缺乏症淋巴管肌瘤病
赖氨酸尿蛋白不耐受症溶酶体酸性脂肪酶缺乏症枫糖尿症马凡综合征
69707172737475767778798081828384858687809192939495969799100101102103104
McCune-Albrigh综合征中链酰基辅酶A脱氢酶缺乏症甲基丙二酸血症线粒体脑肌病黏多糖贮积症多灶性运动神经病
多种酰基辅酶A脱氢酶缺乏症多发性硬化多系统萎缩肌强直性营养不良
N-乙酰谷氨酸合成酶缺乏症新生儿糖尿病视神经脊髓炎尼曼匹克病非综合征性耳聋Noonan综合征
鸟氨酸氨甲酰基转移酶缺乏症成骨不全症（脆骨病）帕金森病（青年型、早发型）阵发性睡眠性血红蛋白尿黑斑息肉综合征苯丙酮尿症POEMS综合征卟啉病
Prader-Willi综合征原发性联合免疫缺陷原发性遗传性肌张力不全原发性轻链型淀粉样变进行性家族性肝内胆汁淤积症进行性肌营养不良丙酸血症肺泡蛋白沉积症肺囊性纤维化视网膜色素变性视网膜母细胞瘤
重症先天性粒细胞缺乏症
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婴儿严重肌阵挛性癫痫(Dravet综合征)镰刀型细胞贫血病Silver-Russell综合征谷固醇血症
脊髓延髓肌萎缩症（肯尼迪病）脊髓性肌萎缩症脊髓小脑性共济失调系统性硬化症四氢生物蝶呤缺乏症结节性硬化症原发性酪氨酸血症
极长链酰基辅酶A脱氢酶缺乏症威廉姆斯综合征
湿疹血小板减少伴免疫缺陷综合征X-连锁无丙种球蛋白血症X-连锁肾上腺脑白质营养不良X-连锁淋巴增生症
英文名称
21-Hydroxylase DeficiencyAlbinismAlport Syndrome
Amyotrophic Lateral SclerosisAngelman SyndromeArginase Deficiency
Asphyxiating Thoracic Dystrophy(Jeune Syndrome)
Atypical Hemolytic Uremic SyndromeAutoimmune EncephalitisAutoimmune Hypophysitis
Autoimmune Insulin Receptopathy(Type B insulin resistance)Beta-ketothiolase DeficiencyBiotinidase DeficiencyCardic Ion ChannelopathiesCarnitine DeficiencyCastleman Disease
Charcot-Marie-Tooth DiseaseCitrullinemia
Congenital Adrenal Hypoplasia
Congenital Hyperinsulinemic HypoglycemiaCongenital Myasthenic Syndrome
Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)Congenital ScoliosisCoronary Artery EctasiaDiamond-Blackfan AnemiaErdheim-Chester DiseaseFabry Disease
Familial Mediterranean FeverFanconi AnemiaGalactosemiaGaucher’s Disease
Generalized Myasthenia GravisGitelman Syndrome
Glutaric Acidemia Type I
Glycogen Storage Disease (Type I、II）Hemophilia
Hepatolenticular Degeneration(Wilson Disease)Hereditary Angioedema (HAE)Hereditary Epidermolysis BullosaHereditary Fructose IntoleranceHereditary Hypomagnesemia
Hereditary Multi-infarct Dementia (Cerebral Autosomal DominantArteriopathy with Subcortical Infarcts and Leukoencephalopathy,CADASIL)
Hereditary Spastic Paraplegia
Holocarboxylase Synthetase DeficiencyHomocysteinemia
Homozygous HypercholesterolemiaHuntington Disease
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria SyndromeHyperphenylalaninemiaHypophosphatasia
Hypophosphatemic RicketsIdiopathic Cardiomyopathy
Idiopathic Hypogonadotropic HypogonadismIdiopathic Pulmonary Arterial HypertensionIdiopathic Pulmonary FibrosisIgG4 related Disease
Inborn Errors of Bile Acid SynthesisIsovaleric AcidemiaKallmann Syndrome
Langerhans Cell HistiocytosisLaron Syndrome
Leber Hereditary Optic Neuropathy
Long Chain 3-hydroxyacyl-CoA Dehydrogenase DeficiencyLymphangioleiomyomatosis (LAM)Lysinuric Protein IntoleranceLysosomal Acid Lipase DeficiencyMaple Syrup Urine DiseaseMarfan Syndrome
McCune-Albright Syndrome
Medium Chain Acyl-CoA Dehydrogenase DeficiencyMethylmalonic Academia
Mitochodrial EncephalomyopathyMucopolysaccharidosisMultifocal Motor Neuropathy
Multiple Acyl-CoA Dehydrogenase DeficiencyMultiple SclerosisMultiple System AtrophyMyotonic Dystrophy
N-acetylglutamate Synthase DeficiencyNeonatal Diabetes MellitusNeuromyelitis OpticaNiemann-Pick DiseaseNon-Syndromic DeafnessNoonan Syndrome
Ornithine Transcarbamylase Deficiency
Osteogenesis Imperfecta (Brittle Bone Disease)Parkinson Disease (Young-onset , Early-onset)Paroxysmal Nocturnal HemoglobinuriaPeutz-Jeghers SyndromePhenylketonuriaPOEMS SyndromePorphyria
Prader-Willi Syndrome
Primary Combined Immune DeficiencyPrimary Hereditary DystoniaPrimary Light Chain Amyloidosis
Progressive Familial Intrahepatic CholestasisProgressive Muscular DystrophyPropionic Acidemia
Pulmonary Alveolar ProteinosisPulmonary Cystic FibrosisRetinitis PigmentosaRetinoblastoma
Severe Congenital Neutropenia
Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)Sickle Cell DiseaseSilver-Russell SyndromeSitosterolemia
Spinal and Bulbar Muscular Atrophy (Kennedy Disease)Spinal Muscular AtrophySpinocerebellar AtaxiaSystemic Sclerosis
Tetrahydrobiopterin DeficiencyTuberous Sclerosis ComplexTyrosinemia
Very Long Chain Acyl-CoA Dehydrogenase DeficiencyWilliams SyndromeWiskott-Aldrich SyndromeX-linked AgammaglobulinemiaX-linked AdrenoleukodystrophyX-linked Lymphoproliferative Disease
