| 疾病名称 |
别名 |
|
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome
|
COQ10D7
|
|
Primary Coenzyme Q10 Deficiency 7
|
Coq4-Related Neonatal Encephalomyopathy
|
|
Coenzyme Q10 Deficiency, Primary, Type 7
|
|
|
| Spastic Ataxia |
|
|
| Hypotonia |
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
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Ceruloplasmin Deficiency
|
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Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Combined Oxidative Phosphorylation Deficiency 13 |
|
COXPD13
|
Combined Oxidative Phosphorylation Defect Type 13
|
|
Combined Oxidative Phosphorylation Deficiency, Type 13
|
|
|
| Coenzyme Q10 Deficiency, Primary, 3 |
|
COQ10D3
|
Primary Coenzyme Q10 Deficiency 3
|
|
Coenzyme Q10 Deficiency, Primary, Type 3
|
|
|
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Scar9
|
Spinocerebellar Ataxia, Autosomal Recessive 9
|
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Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
|
COQ10D4
|
|
Arca2
|
Autosomal Recessive Cerebellar Ataxia Type 2
|
|
Primary Coenzyme Q10 Deficiency 4
|
Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency
|
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Autosomal Recessive Spinocerebellar Ataxia Type 9
|
Autosomal Recessive Spinocerebellar Ataxia 9
|
|
Spinocerebellar Ataxia Autosomal Recessive 9
|
Coenzyme Q10 Deficiency, Primary, Type 4
|
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
|
|
|
| Coenzyme Q10 Deficiency Disease |
|
Coenzyme Q10 Deficiency
|
Coq10 Deficiency
|
|
Primary Coenzyme Q10 Deficiency
|
Coenzyme Q Deficiency
|
|
Coq Deficiency
|
Primary Coq10 Deficiency
|
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Ubiquinone Deficiency
|
Coenzyme Q10 Deficiency, Primary
|
|
Coq10 Deficiency, Primary
|
|
|
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome
|
COQ10D5
|
|
Primary Coenzyme Q10 Deficiency 5
|
Coenzyme Q10 Deficiency, Primary, Type 5
|
|
|
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness
|
COQ10D6
|
|
Primary Coenzyme Q10 Deficiency 6
|
Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss
|
|
Srns With Sensorineural Deafness
|
Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness
|
|
Coenzyme Q10 Deficiency, Primary, Type 6
|
|
|
| Mitochondrial Dna Depletion Syndrome 5 |
|
Succinate-Coa Ligase Deficiency
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
|
MTDPS5
|
Booth-Haworth-Dilling Syndrome
|
|
Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic
|
Mitochondrial Dna Depletion Syndrome-5
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive
|
Mitochondrial Encephalomyopathy Aminoacidopathy
|
|
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
|
|
Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria
|
Succinate-Coenzyme A Ligase Deficiency
|
|
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome
|
Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria
|
|
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related
|
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
|
Mitochondrial Dna Depletion Syndrome, Type 5
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
|
COQ10D2
|
|
Primary Coenzyme Q10 Deficiency 2
|
Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
|
|
Coenzyme Q10 Deficiency, Primary, Type 2
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Developmental And Epileptic Encephalopathy 7 |
|
Epileptic Encephalopathy, Early Infantile, 7
|
DEE7
|
|
Eiee7
|
Kcnq2-Related Epileptic Encephalopathy
|
|
Kcnq2-Related Neonatal Epileptic Encephalopathy
|
Developmental And Epileptic Encephalopathy, 7
|
|
Early Infantile Epileptic Encephalopathy 7
|
Kcnq2-Nee
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile, Type 7
|
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
|
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1
|
COXPD1
|
|
Early Fatal Progressive Hepatoencephalopathy
|
Hepatoencephalopathy Due To Coxpd1
|
|
Combined Oxidative Phosphorylation Deficiency, Type 1
|
Hepatoencephalopathy, Early Fatal Progressive
|
|
Hepatoencephalopathy Early Fatal Progressive
|
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
MADD
|
Ethylmalonic-Adipicaciduria
|
|
Ema
|
Glutaric Acidemia Iia
|
|
Glutaric Acidemia Iib
|
Ga Ii
|
|
Glutaric Acidemia Iic
|
Glutaric Acidemia Type 2
|
|
Glutaric Acidemia Ii
|
Glutaric Aciduria Ii
|
|
Electron Transfer Flavoprotein Deficiency
|
Glutaric Aciduria Type 2
|
|
Mad Deficiency
|
Glutaric Acidemia Type Ii
|
|
Glutaric Aciduria 2
|
Etfa Deficiency
|
|
Etfb Deficiency
|
Etfdh Deficiency
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Ga2
|
|
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency
|
Electron Transfer Flavoprotein Dehydrogenase Deficiency
|
|
Ga 2
|
Glutaric Acidemia 2
|
|
Glutaric Acidemia, Type 2
|
Glutaric Aciduria, Type 2
|
|
Mad
|
Multiple Fad Dehydrogenase Deficiency
|
|
Ethylmalonic Adipic Aciduria
|
Glutaricaciduria Ii
|
|
Glutaric Aciduria 2a
|
GA2A
|
|
Gaiia
|
Glutaricaciduria Iia
|
|
Glutaric Aciduria 2b
|
GA2B
|
|
Gaiib
|
Glutaricaciduria Iib
|
|
Glutaric Aciduria 2c
|
GA2C
|
|
Gaiic
|
Glutaricaciduria Iic
|
|
Glutaricaciduria, Type Iia
|
Glutaric Acidemia Type 2a
|
|
Glutaric Acidemia Type 2c
|
Glutaric Aciduria Iia
|
|
Glutaric Aciduria Iib
|
Glutaric Aciduria Iic
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Leigh Syndrome |
|
Leigh Disease
|
Infantile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
|
LS
|
|
Sne
|
Leigh'S Disease
|
|
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
|
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
|
|
Subacute Necrotizing Encephalomyelopathy
|
Necrotizing Encephalopathy Infantile Subacute Of Leigh
|
|
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
|
Infantile Necrotizing Encephalomyelopathy
|
|
Juvenile Subacute Necrotizing Encephalomyelopathy
|
Leigh'S Necrotizing Encephalopathy
|
|
Subacute Necrotizing Encephalopathy
|
Juvenile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
|
Leigh Syndrome Due To Mitochondrial Complex V Deficiency
|
|
Encephalopathy, Subacute Necrotizing, Infantile
|
Encephalopathy, Subacute Necrotizing, Juvenile
|
|
Maternally Inherited Leigh Syndrome
|
Subacute Necrotising Encephalomyelopathy
|
|
Subacute Necrotising Encephalopathy
|
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
|
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
|
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
|
|
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Mitochondrial Complex I Deficiency
|
Nadh:Q(1) Oxidoreductase Deficiency
|
|
MC1DN1
|
Nadh-Coenzyme Q Reductase Deficiency
|
|
Isolated Mitochondrial Respiratory Chain Complex I Deficiency
|
Isolated Nadh-Coenzyme Q Reductase Deficiency
|
|
Isolated Nadh-Coq Reductase Deficiency
|
Isolated Nadh-Ubiquinone Reductase Deficiency
|
|
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
|
Nuclear Type Mitochondrial Complex I Deficiency 1
|
|
Isolated Complex I Deficiency
|
Complex 1 Mitochondrial Respiratory Chain Deficiency
|
|
Nadh Coenzyme Q Reductase Deficiency
|
Complex I Mitochondrial Respiratory Chain Deficiency
|
|
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
|
Nadh:Ubiquinone Oxidoreductase Deficiency
|
|
Complex I, Mitochondrial Respiratory Chain, Deficiency Of
|
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
