| 疾病名称 |
别名 |
|
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Scar9
|
Spinocerebellar Ataxia, Autosomal Recessive 9
|
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Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
|
COQ10D4
|
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Arca2
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Autosomal Recessive Cerebellar Ataxia Type 2
|
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Primary Coenzyme Q10 Deficiency 4
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Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency
|
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Autosomal Recessive Spinocerebellar Ataxia Type 9
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Autosomal Recessive Spinocerebellar Ataxia 9
|
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Spinocerebellar Ataxia Autosomal Recessive 9
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Coenzyme Q10 Deficiency, Primary, Type 4
|
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Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
|
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| Coenzyme Q10 Deficiency, Primary, 1 |
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COQ10D1
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Ubiquinone Deficiency 1
|
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Coenzyme Q Deficiency 1
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Coq Deficiency 1
|
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Coq10 Deficiency, Primary, 1
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Primary Coenzyme Q10 Deficiency 1
|
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Primary Coq10 Deficiency 1
|
Coenzyme Q10 Deficiency, Primary, Type 1
|
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| Aceruloplasminemia |
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Cerebellar Ataxia
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Hypoceruloplasminemia
|
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Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
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Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
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Hypoceruloplasminemia, Hereditary
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Ceruloplasmin Deficiency
|
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Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
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|
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| Coenzyme Q10 Deficiency Disease |
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Coenzyme Q10 Deficiency
|
Coq10 Deficiency
|
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Primary Coenzyme Q10 Deficiency
|
Coenzyme Q Deficiency
|
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Coq Deficiency
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Primary Coq10 Deficiency
|
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Ubiquinone Deficiency
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Coenzyme Q10 Deficiency, Primary
|
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Coq10 Deficiency, Primary
|
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| Mitochondrial Disease |
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Mitochondrial Diseases
|
Mitochondrial Disorder
|
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
|
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Nervous System Disorder
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
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| Coenzyme Q10 Deficiency, Primary, 7 |
|
Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome
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COQ10D7
|
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Primary Coenzyme Q10 Deficiency 7
|
Coq4-Related Neonatal Encephalomyopathy
|
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Coenzyme Q10 Deficiency, Primary, Type 7
|
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| Spinocerebellar Ataxia, Autosomal Recessive 14 |
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Autosomal Recessive Spinocerebellar Ataxia 14
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SCAR14
|
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Sparca1
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Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
|
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Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
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Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur
|
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Autosomal Recessive Spinocerebellar Ataxia Type 14
|
Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome
|
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Sparca
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1
|
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Spinocerebellar Ataxia, Autosomal Recessive, 14
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1
|
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Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
|
|
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| Coenzyme Q10 Deficiency, Primary, 5 |
|
Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome
|
COQ10D5
|
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Primary Coenzyme Q10 Deficiency 5
|
Coenzyme Q10 Deficiency, Primary, Type 5
|
|
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| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
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Mitochondrial Cytopathy
|
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KSS
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Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
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Oculocraniosomatic Syndrome
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Chronic Progressive External Ophthalmoplegia With Myopathy
|
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Cpeo With Myopathy
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Total Ophthalmoplegia
|
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Ophthalmoplegia-Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
|
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Cpeo With Ragged-Red Fibers
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Oculomotor Paralysis
|
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Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
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Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
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Cpeo With Ragged Red Fibers
|
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Ophthalmoplegia Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
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Kearns-Sayre Mitochondrial Cytopathy
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Mitochondrial Myopathies
|
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| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Aoa1
|
Ataxia-Telangiectasia-Like Disorder
|
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EAOH
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Eoca-Ha
|
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Ataxia With Oculomotor Apraxia Type 1
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Ataxia-Oculomotor Apraxia 1
|
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Ataxia-Oculomotor Apraxia Syndrome
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AOA
|
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Ataxia-Telangiectasia-Like Syndrome
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Ataxia-Oculomotor Apraxia Type 1
|
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Ataxia With Oculomotor Apraxia
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Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
|
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Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia
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Early-Onset Cerebellar Ataxia With Hypoalbuminemia
|
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Adult Onset Ataxia With Oculomotor Apraxia
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Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
|
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Scan2
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Scar1
|
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Spinocerebellar Ataxia With Axonal Neuropathy Type 2
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Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
|
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Atld
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Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
|
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Cerebellar Ataxia Early-Onset With Hypoalbuminemia
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Ataxia-Oculomotor Apraxia
|
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Spinocerebellar Ataxia, Autosomal Recessive 1
|
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| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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MRXSBL
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Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
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X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance
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Mental Retardation, X-Linked 60, Formerly
|
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Mrx60, Formerly
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Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
|
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Mrx60
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Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
|
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| Ataxia With Vitamin E Deficiency |
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Ataxia With Isolated Vitamin E Deficiency
|
AVED
|
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Familial Isolated Vitamin E Deficiency
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Friedreich-Like Ataxia
|
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Familial Isolated Deficiency Of Vitamin E
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Isolated Vitamin E Deficiency
|
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Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency
|
Vitamin E Deficiency, Familial Isolated
|
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Ved
|
Friedreich-Like Ataxia With Selective Vitamin E Deficiency
|
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Five
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Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency
|
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Vitamin E Familial Isolated, Deficiency Of
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Ataxia Friedreich-Like With Selective Vitamin E Deficiency
|
|
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| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
MADD
|
Ethylmalonic-Adipicaciduria
|
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Ema
|
Glutaric Acidemia Iia
|
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Glutaric Acidemia Iib
|
Ga Ii
|
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Glutaric Acidemia Iic
|
Glutaric Acidemia Type 2
|
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Glutaric Acidemia Ii
|
Glutaric Aciduria Ii
|
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Electron Transfer Flavoprotein Deficiency
|
Glutaric Aciduria Type 2
|
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Mad Deficiency
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Glutaric Acidemia Type Ii
|
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Glutaric Aciduria 2
|
Etfa Deficiency
|
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Etfb Deficiency
|
Etfdh Deficiency
|
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Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Ga2
|
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Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency
|
Electron Transfer Flavoprotein Dehydrogenase Deficiency
|
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Ga 2
|
Glutaric Acidemia 2
|
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Glutaric Acidemia, Type 2
|
Glutaric Aciduria, Type 2
|
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Mad
|
Multiple Fad Dehydrogenase Deficiency
|
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Ethylmalonic Adipic Aciduria
|
Glutaricaciduria Ii
|
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Glutaric Aciduria 2a
|
GA2A
|
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Gaiia
|
Glutaricaciduria Iia
|
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Glutaric Aciduria 2b
|
GA2B
|
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Gaiib
|
Glutaricaciduria Iib
|
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Glutaric Aciduria 2c
|
GA2C
|
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Gaiic
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Glutaricaciduria Iic
|
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Glutaricaciduria, Type Iia
|
Glutaric Acidemia Type 2a
|
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Glutaric Acidemia Type 2c
|
Glutaric Aciduria Iia
|
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Glutaric Aciduria Iib
|
Glutaric Aciduria Iic
|
|
|
| Marinesco-Sjogren Syndrome |
|
Marinesco-Sjögren Syndrome
|
MSS
|
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Marinesco-Garland Syndrome
|
Garland-Moorhouse Syndrome
|
|
Hereditary Oligophrenic Cerebello-Lental Degeneration
|
Oligophrenic Cerebellolenticular Degeneration
|
|
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism
|
Marinesco-Sjogren Syndrome-Myopathy
|
|
Marinesco-Sjogren-Garland Syndrome
|
Marinesco-Sjoegren Syndrome
|
|
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| Nephrotic Syndrome |
|
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
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Nephrosis Syndrome
|
Nephrosis Nos
|
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Glomerular Lesion Nephrosis
|
|
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| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
|
Epm5
|
Miras
|
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SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
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Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
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Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
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Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
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Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
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Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
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Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
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Ataxia Neuropathy Spectrum
|
|
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| Mitochondrial Dna Depletion Syndrome 7 |
|
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
|
Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
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Spinocerebellar Ataxia 8
|
MTDPS7
|
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Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
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Sca8
|
Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
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Spinocerebellar Ataxia, Infantile-Onset
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
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Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
|
Spinocerebellar Ataxia 8, Formerly
|
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Sca8, Formerly
|
Iosca, Mitochondrial Dna Depletion Syndrome 7
|
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Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
|
Mtdna Depletion Syndrome, Hepatocerebrorenal Form
|
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
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Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
|
Pure Spinocerebellar Ataxia Japanese Type
|
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Sca4 Pure Japanese Type
|
Spinocerebellar Ataxia Infantile-Onset
|
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Mitochondrial Dna Depletion Syndrome , Type 7
|
|
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| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Arca1
|
Autosomal Recessive Cerebellar Ataxia Type 1
|
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SCAR8
|
Autosomal Recessive Spinocerebellar Ataxia 8
|
|
Autosomal Recessive Ataxia, Beauce Type
|
Recessive Ataxia Of Beauce
|
|
Syne1-Related Autosomal Recessive Cerebellar Ataxia
|
Ataxia, Recessive, Of Beauce
|
|
Cerebellar Ataxia, Autosomal Recessive, Type 1
|
Spinocerebellar Ataxia Autosomal Recessive 8
|
|
Autosomal Recessive Ataxia Beauce Type
|
Spinocerebellar Ataxia, Autosomal Recessive, 8
|
|
Ataxia Recessive Of Beauce
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
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| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
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Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
Cardiofaciocutaneous Syndrome
|
Cfc Syndrome
|
|
Cardio-Facio-Cutaneous Syndrome
|
CFC1
|
|
Cfcs
|
Cardio-Facial-Cutaneous Syndrome
|
|
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
|
Cardiofaciocutaneous Syndrome, Type 1
|
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
|
Costeff Syndrome
|
Mga3
|
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
|
MGCA3
|
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
|
Second Cranium Nerve Atrophy
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Spastic Ataxia |
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| 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 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
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
