|
序號(hào)
|
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(cè)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(yǎng)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(fā)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(fā)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(wú)力綜合征
|
Congenital Myasthenic Syndrome
|
|
22
|
先天性肌強(qiáng)直（非營(yíng)養(yǎng)不良性肌強(qiáng)直綜合征）
|
Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)
|
|
23
|
先天性脊柱側(cè)彎
|
Congenital Scoliosis
|
|
24
|
冠狀動(dòng)脈擴(kuò)張病
|
Coronary Artery Ectasia
|
|
25
|
先天性純紅細(xì)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(wú)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?。↖型、Ⅱ型）
|
Glycogen Storage Disease (Type I、II）
|
|
36
|
血友病
|
Hemophilia
|
|
37
|
肝豆?fàn)詈俗冃?
|
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(fā)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(fā)性心肌病
|
Idiopathic Cardiomyopathy
|
|
53
|
特發(fā)性低促性腺激素性性腺功能減退癥
|
Idiopathic Hypogonadotropic Hypogonadism
|
|
54
|
特發(fā)性肺動(dòng)脈高壓
|
Idiopathic Pulmonary Arterial Hypertension
|
|
55
|
特發(fā)性肺纖維化
|
Idiopathic Pulmonary Fibrosis
|
|
56
|
IgG4相關(guān)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(xì)胞增生癥
|
Langerhans Cell Histiocytosis
|
|
61
|
萊倫氏綜合征
|
Laron Syndrome
|
|
62
|
Leber遺傳性視神經(jīng)病變
|
Leber Hereditary Optic Neuropathy
|
|
63
|
長(zhǎng)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?；o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(yùn)動(dòng)神經(jīng)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(fā)性硬化
|
Multiple Sclerosis
|
|
77
|
多系統(tǒng)萎縮
|
Multiple System Atrophy
|
|
78
|
肌強(qiáng)直性營(yíng)養(yǎng)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(jīng)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(niǎo)氨酸氨甲?；D(zhuǎn)移酶缺乏癥
|
Ornithine Transcarbamylase Deficiency
|
|
86
|
成骨不全癥（脆骨?。?
|
Osteogenesis Imperfecta (Brittle Bone Disease)
|
|
87
|
帕金森?。ㄇ嗄晷?、早發(fā)型）
|
Parkinson Disease (Young-onset , Early-onset)
|
|
88
|
陣發(fā)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(fā)性聯(lián)合免疫缺陷
|
Primary Combined Immune Deficiency
|
|
95
|
原發(fā)性遺傳性肌張力不全
|
Primary Hereditary Dystonia
|
|
96
|
原發(fā)性輕鏈型淀粉樣變
|
Primary Light Chain Amyloidosis
|
|
97
|
進(jìn)行性家族性肝內(nèi)膽汁淤積癥
|
Progressive Familial Intrahepatic Cholestasis
|
|
98
|
進(jìn)行性肌營(yíng)養(yǎng)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(wǎng)膜色素變性
|
Retinitis Pigmentosa
|
|
103
|
視網(wǎng)膜母細(xì)胞瘤
|
Retinoblastoma
|
|
104
|
重癥先天性粒細(xì)胞缺乏癥
|
Severe Congenital Neutropenia
|
|
105
|
嬰兒嚴(yán)重肌陣攣性癲癇(Dravet綜合征)
|
Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)
|
|
106
|
鐮刀型細(xì)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?。?
|
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(jì)失調(diào)
|
Spinocerebellar Ataxia
|
|
112
|
系統(tǒng)性硬化癥
|
Systemic Sclerosis
|
|
113
|
四氫生物蝶呤缺乏癥
|
Tetrahydrobiopterin Deficiency
|
|
114
|
結(jié)節(jié)性硬化癥
|
Tuberous Sclerosis Complex
|
|
115
|
原發(fā)性酪氨酸血癥
|
Tyrosinemia
|
|
116
|
極長(zhǎng)鏈?；o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(wú)丙種球蛋白血癥
|
X-linked Agammaglobulinemia
|
|
120
|
X-連鎖腎上腺腦白質(zhì)營(yíng)養(yǎng)不良
|
X-linked Adrenoleukodystrophy
|
|
121
|
X-連鎖淋巴增生癥
|
X-linked Lymphoproliferative Disease
|