序號 | 中文名稱 | 英文名稱 |
1 | 21-羥化酶缺乏癥 | 21-Hydroxylase Deficiency |
2 | 白化病 | Albinism |
3 | Alport 綜合征 | Alport Syndrome |
4 | 肌萎縮側索硬化 | Amyotrophic Lateral Sclerosis |
5 | Angelman 氏癥候群（天使綜合征） | Angelman Syndrome |
6 | 精氨酸酶缺乏癥 | Arginase Deficiency |
7 | 熱納綜合征（窒息性胸腔失養癥） | Asphyxiating Thoracic Dystrophy (Jeune Syndrome) |
8 | 非典型溶血性尿毒癥 | Atypical Hemolytic Uremic Syndrome |
9 | 自身免疫性腦炎 | Autoimmune Encephalitis |
10 | 自身免疫性垂體炎 | Autoimmune Hypophysitis |
11 | 自身免疫性胰島素受體病 | Autoimmune Insulin Receptopathy (Type B insulin resistance) |
12 | β-酮硫解酶缺乏癥 | Beta-ketothiolase Deficiency |
13 | 生物素酶缺乏癥 | Biotinidase Deficiency |
14 | 心臟離子通道病 | Cardic Ion Channelopathies |
15 | 原發性肉堿缺乏癥 | Carnitine Deficiency |
16 | Castleman病 | Castleman Disease |
17 | 腓骨肌萎縮癥 | Charcot-Marie-Tooth Disease |
18 | 瓜氨酸血癥 | Citrullinemia |
19 | 先天性腎上腺發育不良 | Congenital Adrenal Hypoplasia |
20 | 先天性高胰島素性低血糖血癥 | Congenital Hyperinsulinemic Hypoglycemia |
21 | 先天性肌無力綜合征 | Congenital Myasthenic Syndrome |
22 | 先天性肌強直（非營養不良性肌強直綜合征） | Congenital Myotonia Syndrome
(Non-Dystrophic Myotonia, NDM) |
23 | 先天性脊柱側彎 | Congenital Scoliosis |
24 | 冠狀動脈擴張病 | Coronary Artery Ectasia |
25 | 先天性純紅細胞再生障礙性貧血 | Diamond-Blackfan Anemia |
26 | Erdheim-Chester病 | Erdheim-Chester Disease |
27 | 法布雷病 | Fabry Disease |
28 | 家族性地中海熱 | Familial Mediterranean Fever |
29 | 范可尼貧血 | Fanconi Anemia |
30 | 半乳糖血癥 | Galactosemia |
31 | 戈謝病 | Gaucher’s Disease |
32 | 全身型重癥肌無力 | Generalized Myasthenia Gravis |
33 | Gitelman 綜合征 | Gitelman Syndrome |
34 | 戊二酸血癥I型 | Glutaric Acidemia Type I |
35 | 糖原累積病（I型、Ⅱ型） | Glycogen Storage Disease (Type I、II） |
36 | 血友病 | Hemophilia |
37 | 肝豆狀核變性 | Hepatolenticular Degeneration(Wilson Disease) |
38 | 遺傳性血管性水腫 | Hereditary Angioedema (HAE) |
39 | 遺傳性大皰性表皮松解癥 | Hereditary Epidermolysis Bullosa |
40 | 遺傳性果糖不耐受癥 | Hereditary Fructose Intolerance |
41 | 遺傳性低鎂血癥 | Hereditary Hypomagnesemia |
42 | 遺傳性多發腦梗死性癡呆 | Hereditary Multi-infarct Dementia (Cerebral
Autosomal Dominant Arteriopathy with Subcortical
Infarcts and Leukoencephalopathy, CADASIL) |
43 | 遺傳性痙攣性截癱 | Hereditary Spastic Paraplegia |
44 | 全羧化酶合成酶缺乏癥 | Holocarboxylase Synthetase Deficiency |
45 | 同型半胱氨酸血癥 | Homocysteinemia |
46 | 純合子家族性高膽固醇血癥 | Homozygous Hypercholesterolemia |
47 | 亨廷頓舞蹈病 | Huntington Disease |
48 | HHH綜合征 | Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome |
49 | 高苯丙氨酸血癥 | Hyperphenylalaninemia |
50 | 低堿性磷酸酶血癥 | Hypophosphatasia |
51 | 低磷性佝僂病 | Hypophosphatemic Rickets |
52 | 特發性心肌病 | Idiopathic Cardiomyopathy |
53 | 特發性低促性腺激素性性腺功能減退癥 | Idiopathic Hypogonadotropic Hypogonadism |
54 | 特發性肺動脈高壓 | Idiopathic Pulmonary Arterial Hypertension |
55 | 特發性肺纖維化 | Idiopathic Pulmonary Fibrosis |
56 | IgG4相關性疾病 | IgG4 related Disease |
57 | 先天性膽汁酸合成障礙 | Inborn Errors of Bile Acid Synthesis |
58 | 異戊酸血癥 | Isovaleric Acidemia |
59 | 卡爾曼綜合征 | Kallmann Syndrome |
60 | 朗格漢斯組織細胞增生癥 | Langerhans Cell Histiocytosis |
61 | 萊倫氏綜合征 | Laron Syndrome |
62 | Leber遺傳性視神經病變 | Leber Hereditary Optic Neuropathy |
63 | 長鏈3-羥酰基輔酶A脫氫酶缺乏癥 | Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency |
64 | 淋巴管肌瘤病 | Lymphangioleiomyomatosis (LAM) |
65 | 賴氨酸尿蛋白不耐受癥 | Lysinuric Protein Intolerance |
66 | 溶酶體酸性脂肪酶缺乏癥 | Lysosomal Acid Lipase Deficiency |
67 | 楓糖尿癥 | Maple Syrup Urine Disease |
68 | 馬凡綜合征 | Marfan Syndrome |
69 | McCune-Albrigh綜合征 | McCune-Albright Syndrome |
70 | 中鏈酰基輔酶A脫氫酶缺乏癥 | Medium Chain Acyl-CoA Dehydrogenase Deficiency |
71 | 甲基丙二酸血癥 | Methylmalonic Academia |
72 | 線粒體腦肌病 | Mitochodrial Encephalomyopathy |
73 | 黏多糖貯積癥 | Mucopolysaccharidosis |
74 | 多灶性運動神經病 | Multifocal Motor Neuropathy |
75 | 多種酰基輔酶A脫氫酶缺乏癥 | Multiple Acyl-CoA Dehydrogenase Deficiency |
76 | 多發性硬化 | Multiple Sclerosis |
77 | 多系統萎縮 | Multiple System Atrophy |
78 | 肌強直性營養不良 | Myotonic Dystrophy |
79 | N-乙酰谷氨酸合成酶缺乏癥 | N-acetylglutamate Synthase Deficiency |
80 | 新生兒糖尿病 | Neonatal Diabetes Mellitus |
81 | 視神經脊髓炎 | Neuromyelitis Optica |
82 | 尼曼匹克病 | Niemann-Pick Disease |
83 | 非綜合征性耳聾 | Non-Syndromic Deafness |
84 | Noonan綜合征 | Noonan Syndrome |
85 | 鳥氨酸氨甲酰基轉移酶缺乏癥 | Ornithine Transcarbamylase Deficiency |
86 | 成骨不全癥（脆骨病） | Osteogenesis Imperfecta (Brittle Bone Disease) |
87 | 帕金森病（青年型、早發型） | Parkinson Disease (Young-onset , Early-onset) |
88 | 陣發性睡眠性血紅蛋白尿 | Paroxysmal Nocturnal Hemoglobinuria |
89 | 黑斑息肉綜合征 | Peutz-Jeghers Syndrome |
90 | 苯丙酮尿癥 | Phenylketonuria |
91 | POEMS綜合征 | POEMS Syndrome |
92 | 卟啉病 | Porphyria |
93 | Prader-Willi綜合征 | Prader-Willi Syndrome |
94 | 原發性聯合免疫缺陷 | Primary Combined Immune Deficiency |
95 | 原發性遺傳性肌張力不全 | Primary Hereditary Dystonia |
96 | 原發性輕鏈型淀粉樣變 | Primary Light Chain Amyloidosis |
97 | 進行性家族性肝內膽汁淤積癥 | Progressive Familial Intrahepatic Cholestasis |
98 | 進行性肌營養不良 | Progressive Muscular Dystrophy |
99 | 丙酸血癥 | Propionic Acidemia |
100 | 肺泡蛋白沉積癥 | Pulmonary Alveolar Proteinosis |
101 | 肺囊性纖維化 | Pulmonary Cystic Fibrosis |
102 | 視網膜色素變性 | Retinitis Pigmentosa |
103 | 視網膜母細胞瘤 | Retinoblastoma |
104 | 重癥先天性粒細胞缺乏癥 | Severe Congenital Neutropenia |
105 | 嬰兒嚴重肌陣攣性癲癇(Dravet綜合征) | Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) |
106 | 鐮刀型細胞貧血病 | Sickle Cell Disease |
107 | Silver-Russell綜合征 | Silver-Russell Syndrome |
108 | 谷固醇血癥 | Sitosterolemia |
109 | 脊髓延髓肌萎縮癥（肯尼迪病） | Spinal and Bulbar Muscular Atrophy (Kennedy Disease) |
110 | 脊髓性肌萎縮癥 | Spinal Muscular Atrophy |
111 | 脊髓小腦性共濟失調 | Spinocerebellar Ataxia |
112 | 系統性硬化癥 | Systemic Sclerosis |
113 | 四氫生物蝶呤缺乏癥 | Tetrahydrobiopterin Deficiency |
114 | 結節性硬化癥 | Tuberous Sclerosis Complex |
115 | 原發性酪氨酸血癥 | Tyrosinemia |
116 | 極長鏈酰基輔酶A脫氫酶缺乏癥 | Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
117 | 威廉姆斯綜合征 | Williams Syndrome |
118 | 濕疹血小板減少伴免疫缺陷綜合征 | Wiskott-Aldrich Syndrome |
119 | X-連鎖無丙種球蛋白血癥 | X-linked Agammaglobulinemia |
120 | X-連鎖腎上腺腦白質營養不良 | X-linked Adrenoleukodystrophy |
121 | X-連鎖淋巴增生癥 | X-linked Lymphoproliferative Disease |
