1

Mitochondrial complex I deficiency

线粒体复合物I缺乏

2

Mitochondrial complex I deficiency

线粒体复合物I缺乏

3

Mitochondrial complex I deficiency

线粒体复合物I缺乏

4

Mitochondrial complex I deficiency

线粒体复合物I缺乏

5

Mitochondrial complex I deficiency

线粒体复合物I缺乏

6

Mitochondrial complex I deficiency

线粒体复合物I缺乏

7

Mitochondrial complex I deficiency

线粒体复合物I缺乏

8

Mitochondrial complex I deficiency

线粒体复合物I缺乏

9

Mitochondrial complex I deficiency

线粒体复合物I缺乏

10

Mitochondrial complex I deficiency

线粒体复合物I缺乏

11

Mitochondrial complex I deficiency

线粒体复合物I缺乏

12

Mitochondrial complex I deficiency

线粒体复合物I缺乏

13

Mitochondrial complex I deficiency

线粒体复合物I缺乏

14

Mitochondrial complex I deficiency

线粒体复合物I缺乏

15

Mitochondrial complex I deficiency

线粒体复合物I缺乏

16

Mitochondrial complex I deficiency

线粒体复合物I缺乏

17

Mitochondrial complex I deficiency

线粒体复合物I缺乏

18

Mitochondrial complex I deficiency

线粒体复合物I缺乏

19

Mitochondrial complex II deficiency

线粒体复合物II缺乏

20

Mitochondrial complex I deficiency due to ACAD9 deficiency

由于ACAD9缺乏导致的线粒体复合物I缺乏症

21

Mitochondrial complex III deficiency, nuclear type 1

线粒体复合物III缺乏，第1核型

22

Mitochondrial complex III deficiency, nuclear type 2

线粒体复合物III缺乏，第2核型

23

Mitochondrial complex III deficiency, nuclear type 3

线粒体复合物III缺乏，第3核型

24

Mitochondrial complex III deficiency, nuclear type 4

线粒体复合物III缺乏，第4核型

25

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

26

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

27

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

28

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

29

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

30

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

31

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

32

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

33

Mitochondrial complex IV deficiency

线粒体复合物IV缺乏

34

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

线粒体复合物V（ATP合酶）缺乏，第1核型

35

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

线粒体复合物V（ATP合酶）缺乏，第2核型

36

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

线粒体复合物V（ATP合酶）缺乏，第3核型

37

Leigh syndrome due to mitochondrial complex 1 deficiency

由于线粒体复合物1缺乏导致的Leigh综合征

38

Leigh syndrome due to mitochondrial complex I deficiency

由于线粒体复合物I缺乏导致的Leigh综合征

39

Leigh syndrome due to mitochondrial complex I deficiency

由于线粒体复合物I缺乏导致的Leigh综合征

40

Leigh syndrome due to mitochondrial complex I deficiency

由于线粒体复合物I缺乏导致的Leigh综合征

41

Leigh syndrome due to mitochondrial complex I deficiency

由于线粒体复合物I缺乏导致的Leigh综合征

42

Leigh syndrome due to mitochondrial complex I deficiency

由于线粒体复合物I缺乏导致的Leigh综合征

43

Leigh syndrome due to mitochondrial complex I deficiency

由于线粒体复合物I缺乏导致的Leigh综合征

44

Leigh Syndrome

Leigh综合征

45

Leigh Syndrome

Leigh综合征

46

Leigh Syndrome

Leigh综合征

47

Leigh Syndrome

Leigh综合征

48

Leigh Syndrome

Leigh综合征

49

Leigh syndrome

Leigh综合征

50

Leigh syndrome, French-Canadian type

Leigh综合征，法裔加拿大型

51

Mitochondrial respiratory chain complex II deficiency

线粒体呼吸链复合物II缺陷

52

Mitochondrial myopathy and sideroblastic anemia 1

线粒体肌病和铁粒幼细胞性贫血，1型

53

Mitochondrial phosphate carrier deficiency

线粒体磷酸运载体缺乏症

54

Trifunctional protein deficiency

线粒体三功能蛋白缺陷

55

Trifunctional protein deficiency

线粒体三功能蛋白缺陷

56

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

线粒体隐性遗传共济失调综合征(包括SANDO和SCAE型）

57

Mitochondrial DNA depletion syndrome 1 (MNGIE type)

线粒体DNA耗竭综合征，1型（MNGIE型）

58

Mitochondrial DNA depletion syndrome 2 (myopathic type)

线粒体DNA耗竭综合征，2型（肌病型）

59

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

线粒体DNA耗竭综合征，3型（肝脑型）

60

Mitochondrial DNA depletion syndrome 4A (Alpers type)

线粒体DNA耗竭综合征，4A型（Alpers型）

61

Mitochondrial DNA depletion syndrome 4B (MNGIE type)

线粒体DNA耗竭综合征，4B型（MNGIE型）

62

Mitochondrial DNA depletion syndrome 5 

线粒体DNA耗竭综合征，5型

63

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

线粒体DNA耗竭综合征，6型（肝脑型）

64

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

线粒体DNA耗竭综合征，7型（肝脑型）

65

Mitochondrial DNA depletion syndrome 8A 

线粒体DNA耗竭综合征，8A型

66

Mitochondrial DNA depletion syndrome 8B

线粒体DNA耗竭综合征，8B型

67

Mitochondrial DNA depletion syndrome 9 

线粒体DNA耗竭综合征，9型

68

Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)

线粒体DNA耗竭综合征，12型（心肌病型）

69

PEPCK deficiency, mitochondrial

线粒体PEPCK缺乏

70

Mitochondrial pyruvate carrier deficiency

线粒体丙酮酸载体缺乏症

71

Combined oxidative phosphorylation deficiency 16

联合性氧化磷酸化缺乏症，16型

72

Combined oxidative phosphorylation deficiency 25

联合性氧化磷酸化缺乏症，25型

73

Optic atrophy 9

视神经萎缩，9型

74

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

由于细胞色素c氧化酶缺乏导致的致命性婴儿型心脑肌病，3型

75

Infantile liver failure syndrome 1

幼儿肝功能衰竭综合征，1型

76

{Deafness, mitochondrial, modifier of}

{线粒体耳聋，修饰型}

77

3-Methylcrotonyl-CoA carboxylase 2 deficiency

3-甲基巴豆酰辅酶A羧化酶缺乏症，2型

78

3-methylglutaconic aciduria, type III

3-甲基戊烯二酸尿症，III型

79

3-methylglutaconic aciduria, type I

3-甲基戊烯二酸尿症，I型

80

3-methylglutaconic aciduria, type V

3-甲基戊烯二酸尿症，V型

81

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3-甲基戊烯二酸尿症伴耳聋、脑病和Leigh氏综合征

82

3-hydroxyacyl-CoA dehydrogenase deficiency

3-羟酰辅酶A脱氢酶缺乏

83

Barth syndrome

Barth综合征

84

Friedreich ataxia

Friedreich型共济失调

85

HMG-CoA lyase deficiency

HMG CoA裂解酶缺乏

86

HMG-CoA synthase-2 deficiency

HMG-CoA合酶-2缺乏

87

Mohr-Tranebjaerg syndrome

Mohr-Tranebjaerg综合征

88

Perrault syndrome 2

Perrault综合征，2型

89

Perrault syndrome 4

Perrault综合征，4型

90

VLCAD deficiency

VLCAD缺乏

91

Wolfram syndrome

Wolfram综合征

92

Wolfram syndrome 2

Wolfram综合征，2型

93

Alpha-methylacetoacetic aciduria

α型甲基乙酰乙酸尿症

94

Cataract 38, autosomal recessive;Sengers syndrome

白内障，38型，常染色体隐性遗传；Sengers syndrome

95

Anemia, sideroblastic, 3, pyridoxine-refractory

吡哆醇难治性铁粒幼细胞性贫血，3型

96

Pyruvate dehydrogenase E1-alpha deficiency

丙酮酸脱氢酶E1-α缺乏

97

Pyruvate dehydrogenase E1-beta deficiency

丙酮酸脱氢酶E1-β缺乏

98

Pyruvate dehydrogenase E2 deficiency

丙酮酸脱氢酶E2缺乏

99

Pyruvate dehydrogenase phosphatase deficiency

丙酮酸脱氢酶磷酸酶缺乏

100

Pyruvate dehydrogenase lipoic acid synthetase deficiency

丙酮酸脱氢酶硫辛酸合成酶缺乏

101

Pyruvate carboxylase deficiency

丙酮酸脱羧化酶缺乏

102

Citrullinemia, adult-onset type II

成人瓜氨酸血症，II型

103

Acyl-CoA dehydrogenase, short-chain, deficiency of

短链脂肪酸去氢酶缺乏症

104

Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia

多发性线粒体功能紊乱综合征（2型）伴高甘氨酸血症

105

Multiple mitochondrial dysfunctions syndrome 1

多发性线粒体功能紊乱综合征，1型

106

Dihydrolipoamide dehydrogenase deficiency

二氢硫辛酰胺脱氢酶缺乏

107

Charcot-Marie-Tooth disease, type 2A2

腓骨肌萎缩症，2A2型

108

Maple syrup urine disease, type Ia

枫糖尿病，Ia型

109

Maple syrup urine disease, type Ib

枫糖尿病，Ib型

110

Maple syrup urine disease, type II

枫糖尿病，II型

111

Paragangliomas 2

副神经节瘤，2型

112

Paragangliomas 3

副神经节瘤，3型

113

Paragangliomas 1, with or without deafness

副神经节瘤伴或不伴耳聋，1型

114

Paraganglioma and gastric stromal sarcoma

副神经节瘤和胃间质肉瘤

115

CPT deficiency, hepatic, type IA

肝CPT缺乏，IA型

116

CPT deficiency, hepatic, type II

肝内肉碱棕榈酰转移酶缺乏症，II型

117

Glycogen storage disease 0, liver

肝脏糖原贮积病，0型

118

Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

高氨血症-高鸟氨酸血症-同型瓜氨酸尿症

119

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis

高尿酸血症、肺动脉高压、肾衰和碱中毒

120

Citrullinuria

瓜氨酸血症

121

Cystinuria

胱氨酸尿

122

Fructose-1,6-bisphosphatase deficiency

果糖-1，6-双磷酸酯酶缺乏

123

 Protoporphyria, erythropoietic, X-linked; Anemia, sideroblastic, X-linked

红细胞生成性原卟啉病，X连锁遗传；贫血，铁粒幼细胞性，1型

124

Succinyl CoA:3-oxoacid CoA transferase deficiency

琥珀酰CoA/3酮酸辅酶A转移酶缺乏

125

Myopathy, lactic acidosis, and sideroblastic anemia 2

肌病、乳酸性酸中毒和铁粒幼细胞性贫血，2型

126

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay(613076)

进行性线粒体性肌病伴先天性白内障、听力损失和发展迟缓

127

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

进行性眼外肌麻痹伴线粒体DNA缺失，常染色体显性遗传，2型

128

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

进行性眼外肌麻痹伴线粒体DNA缺失，常染色体显性遗传，3型

129

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

进行性眼外肌麻痹伴线粒体DNA缺失，常染色体显性遗传，4型

130

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

进行性眼外肌麻痹伴线粒体DNA缺失，常染色体显性遗传，5型

131

Spastic ataxia 3, autosomal recessive

痉挛性共济失调，3型，常染色体隐性遗传

132

Ataxia, spastic, 4

痉挛性共济失调，4型

133

Ataxia, spastic, 5, autosomal recessive

痉挛性共济失调，5型，常染色体隐性遗传

134

Spinocerebellar ataxia 7

脊髓小脑共济失调，7型

135

Spinocerebellar ataxia 28

脊髓小脑共济失调，28型

136

Spastic paraplegia 13, autosomal dominant

痉挛性截瘫，13型，常染色体显性遗传

137

Spastic paraplegia 31, autosomal dominant

痉挛性截瘫，31型，常染色体显性遗传

138

Spastic paraplegia 7, autosomal recessive

痉挛性截瘫，7型，常染色体隐性遗传

139

Cardiomyopathy, dilated, 1T

扩张型心肌病，1T型

140

Combined oxidative phosphorylation deficiency 10

联合性氧化磷酸化缺乏症，10型

141

Combined oxidative phosphorylation deficiency 11

联合性氧化磷酸化缺乏症，11型

142

Combined oxidative phosphorylation deficiency 12

联合性氧化磷酸化缺乏症，12型

143

Combined oxidative phosphorylation deficiency 13

联合性氧化磷酸化缺乏症，13型

144

Combined oxidative phosphorylation deficiency 14

联合性氧化磷酸化缺乏症，14型

145

Combined oxidative phosphorylation deficiency 15

联合性氧化磷酸化缺乏症，15型

146

Combined oxidative phosphorylation deficiency 1

联合性氧化磷酸化缺乏症，1型

147

Combined oxidative phosphorylation deficiency 2

联合性氧化磷酸化缺乏症，2型

148

Combined oxidative phosphorylation deficiency 3

联合性氧化磷酸化缺乏症，3型

149

Combined oxidative phosphorylation deficiency 4

联合性氧化磷酸化缺乏症，4型

150

Combined oxidative phosphorylation deficiency 5

联合性氧化磷酸化缺乏症，5型

151

Combined oxidative phosphorylation deficiency 6

联合性氧化磷酸化缺乏症，6型

152

Combined oxidative phosphorylation deficiency 7 ;Spastic paraplegia 55, autosomal recessive 

联合性氧化磷酸化缺乏症，7型

153

Combined oxidative phosphorylation deficiency 8

联合性氧化磷酸化缺乏症，8型

154

Combined oxidative phosphorylation deficiency 9

联合性氧化磷酸化缺乏症，9型

155

Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)

硫胺素代谢功能紊乱综合征，2型（生物素或硫胺素反应性脑病，2型 ）

156

Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)

硫胺素代谢功能紊乱综合征，4型（进行性多神经病型）

157

Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

硫胺素代谢功能紊乱综合征，5型（发作性脑病型）

158

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

脑白质病变伴脑干和脊髓受累和乳酸升高

159

Pontocerebellar hypoplasia, type 6

桥脑小脑发育不全，6型

160

Carnitine-acylcarnitine translocase deficiency

肉碱-脂酰肉碱转位酶缺乏

161

Optic atrophy 7

视神经萎缩，7型

162

Optic atrophy plus syndrome

视神经萎缩加视神经综合征

163

Holocarboxylase synthetase deficiency

羧化全酶合成酶缺乏症

164

Glycogen storage disease Ia

糖原贮积病，Ia型

165

Glycogen storage disease Ic

糖原贮积病，Ic型

166

Anemia, sideroblastic, with ataxia

铁粒幼细胞性贫血伴共济失调

167

Glutaric acidemia IIA

戊二酸血症，IIA型

168

Glutaric acidemia IIB

戊二酸血症，IIB型

169

Glutaric acidemia IIC

戊二酸血症，IIC型

170

Carnitine deficiency, systemic primary

系统性原发性肉毒碱缺乏

171

Linear skin defects with multiple congenital anomalies

线性皮肤缺损伴多发性先天畸形

172

Linear skin defects with multiple congenital anomalies 1

线性皮肤缺损伴多发性先天性畸形，1型

173

Infantile cerebellar-retinal degeneration

小儿小脑视网膜变性

174

Thrombocytopenia 4

血小板减少症，4型

175

Sulfite oxidase deficiency

亚硫酸盐氧化酶缺乏

176

Fumarase deficiency; Leiomyomatosis and renal cell cancer

延胡索酸酶缺乏；平滑肌瘤病和肾细胞癌

177

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis

胰腺外分泌功能不全、红细胞生成障碍性贫血和颅骨增生症

178

Myopathy with lactic acidosis, hereditary

遗传性肌病伴乳酸性酸中毒

179

Ethylmalonic encephalopathy

乙基丙二酸脑病

180

Leigh syndrome, due to COX IV deficiency

由于COX IV缺乏导致的Leigh综合征

181

Lacticacidemia due to PDX1 deficiency

由于PDX1缺乏导致的乳酸血症

182

Leigh syndrome due to cytochrome c oxidase deficiency

由于细胞色素c氧化酶缺乏导致的Leigh综合征

183

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

由于细胞色素c氧化酶缺乏导致的致命性婴儿型心脑肌病，1型

184

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

由于细胞色素c氧化酶缺乏导致的致命性婴儿型心脑肌病，2型

185

Leigh syndrome due to mitochondrial COX4 deficiency

由于线粒体COX4缺乏导致的Leigh综合征

186

Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission

由于有缺陷的线粒体过氧化物酶体裂变导致的致命性脑病

187

Coenzyme Q10 deficiency, primary, 1

原发性辅酶Q10缺乏，1型

188

Coenzyme Q10 deficiency, primary, 2

原发性辅酶Q10缺乏，2型

189

Coenzyme Q10 deficiency, primary, 3

原发性辅酶Q10缺乏，3型

190

Coenzyme Q10 deficiency, primary, 4

原发性辅酶Q10缺乏，4型

191

Coenzyme Q10 deficiency, primary, 5

原发性辅酶Q10缺乏，5型

192

Coenzyme Q10 deficiency, primary, 6

原发性辅酶Q10缺乏，6型

193

Coenzyme Q10 deficiency, primary, 7

原发性辅酶Q10缺乏，7型

194

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

早发型共济失调伴眼球运动不能和低白蛋白血症

195

Parkinson disease 6, early onset

早发性帕金森氏病，6型

196

Epileptic encephalopathy, early infantile, 3

早期幼儿癫痫性脑病，3型

197

Acyl-CoA dehydrogenase, medium chain, deficiency of

中链酰基辅酶A脱氢酶缺乏症