| 疾病名称 |
别名 |
|
| Mitochondrial Dna Depletion Syndrome 5 |
|
Succinate-Coa Ligase Deficiency
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
|
MTDPS5
|
Booth-Haworth-Dilling Syndrome
|
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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
|
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Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
|
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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
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
|
Mitochondrial Dna Depletion Syndrome, Type 5
|
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Gaba Aminotransferase Deficiency |
|
Gamma-Aminobutyric Acid Transaminase Deficiency
|
Gamma Aminobutyric Acid Transaminase Deficiency
|
|
Gaba Transaminase Deficiency
|
Gamma-Amino Butyric Acid Transaminase Deficiency
|
|
4 Alpha Aminobutyrate Transaminase Deficiency
|
Abat
|
|
Gabat
|
Gamma Aminobutyrate Transaminase Deficiency
|
|
|
| Mitochondrial Dna Depletion Syndrome 6 |
|
Navajo Neurohepatopathy
|
Navajo Neuropathy
|
|
MTDPS6
|
Nnh
|
|
Nn
|
Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
|
|
Navajo Familial Neurogenic Arthropathy
|
Mpv17-Associated Hepatocerebral Mds
|
|
Mitochondrial Dna Depletion 6 Hepatocerebral Type
|
Mitochondrial Dna Depletion Syndrome , Type 6
|
|
|
| Combined Oxidative Phosphorylation Deficiency 13 |
|
COXPD13
|
Combined Oxidative Phosphorylation Defect Type 13
|
|
Combined Oxidative Phosphorylation Deficiency, Type 13
|
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
PEOA4
|
Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
|
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4
|
Chronic Progressive External Ophthalmoplegia
|
|
Progressive External Ophthalmoplegia, Autosomal Dominant 4
|
Autosomal Dominant Progressive External Ophthalmoplegia 4
|
|
Cpeo
|
Graefe Disease
|
|
Mitochondrial Ocular Myopathy
|
Ocular Myopathy Of Von Graefe-Fuchs
|
|
Progressive External Ophthalmoplegia Autosomal Dominant 4
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
|
|
Kearns-Sayre Syndrome
|
|
|
| Mitochondrial Dna Depletion Syndrome 9 |
|
MTDPS9
|
Fatal Infantile Lactic Acidosis
|
|
Lactic Acidosis, Fatal Infantile, Formerly
|
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
|
|
Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Type 9
|
|
Lactic Acidosis, Fatal Infantile
|
|
|
| Infantile Cerebellar-Retinal Degeneration |
|
ICRD
|
Infantile Cerebellar Retinal Degeneration
|
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Degeneration, Cerebellar-Retinal, Infantile
|
|
|
| Fumarase Deficiency |
|
Fumaric Aciduria
|
FMRD
|
|
Fumarate Hydratase Deficiency
|
Deficiency, Fumarase
|
|
|
| Combined Malonic And Methylmalonic Aciduria |
|
CMAMMA
|
Combined Malonic And Methylmalonic Acidemia
|
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Aciduria, Combined Malonic And Methylmalonic
|
|
|
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic Acidemia Cbla Type
|
Methylmalonic Aciduria Cbla Type
|
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Methylmalonic Acidemia, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type
|
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Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type
|
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Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla
|
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla
|
|
Methylmalonic Aciduria Type Cbla
|
MMAA
|
|
Methylmalonic Aciduria Type A
|
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A
|
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Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A
|
Aciduria, Methylmalonic, Cbla Type
|
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Methylmalonic Aciduria Cbla Type
|
|
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| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonyl-Coenzyme A Mutase Deficiency
|
Methylmalonic Aciduria, Mut Type
|
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Methylmalonic Aciduria, Mut(0) Type
|
Methylmalonic Acidemia Due To Methylmalonyl-Coa Mutase Deficiency
|
|
Vitamin B12-Unresponsive Methylmalonic Aciduria
|
Vitamin B12-Unresponsive Methylmalonic Acidemia
|
|
Methylmalonic Aciduria, Mut Type
|
Mma Due To Mcm Deficiency
|
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Methylmalonic Aciduria Mut Type
|
Mcm Deficiency
|
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Methylmalonyl-Coa Mutase Deficiency
|
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
|
|
Complete Deficiency Of Methylmalonyl-Coa Mutase
|
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0
|
|
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
|
Partial Deficiency Of Methylmalonyl-Coa Mutase
|
|
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut-
|
MMAM
|
|
Methylmalonicaciduria Due To Methylmalonyl-Coa Mutase Deficiency
|
Methylmalonic Aciduria Type Mut
|
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Methylmalonicaciduria Vitamin B12 Unresponsive
|
Aciduria, Methylmalonic, Due To Methylmalonyl-Coa Mutase Deficiency
|
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
|
Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia 8
|
MTDPS7
|
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
|
Sca8
|
Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
|
Spinocerebellar Ataxia, Infantile-Onset
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
|
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
|
Spinocerebellar Ataxia 8, Formerly
|
|
Sca8, Formerly
|
Iosca, Mitochondrial Dna Depletion Syndrome 7
|
|
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
|
Mtdna Depletion Syndrome, Hepatocerebrorenal Form
|
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
|
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
|
Pure Spinocerebellar Ataxia Japanese Type
|
|
Sca4 Pure Japanese Type
|
Spinocerebellar Ataxia Infantile-Onset
|
|
Mitochondrial Dna Depletion Syndrome , Type 7
|
|
|
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Megdel Syndrome
|
MEGDEL
|
|
Mgca6
|
3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel
|
3-Methylglutaconic Aciduria, Type Vi
|
|
Serac1 Defect
|
3-Methylglutaconic Aciduria Type 6
|
|
3-Mgca Type Iv
|
3-Mgca-4
|
|
3-Methylglutaconic Aciduria Type Vi
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel Syndrome
|
3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome
|
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
|
|
|
| 3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaconic Aciduria Type 4
|
Mga4
|
|
MGCA4
|
3-Methylglutaconic Aciduria Type Iv
|
|
Mga, Type Iv
|
Mga Type Iv
|
|
Not Otherwise Specified 3-Mga-Uria Type
|
3 Alpha Methylglutaconic Aciduria Type Iv
|
|
3 Methylglutaconic Aciduria Type Iv
|
|
|
| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
|
Mitochondrial Cytopathy
|
|
KSS
|
Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
|
Oculocraniosomatic Syndrome
|
Chronic Progressive External Ophthalmoplegia With Myopathy
|
|
Cpeo With Myopathy
|
Total Ophthalmoplegia
|
|
Ophthalmoplegia-Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
|
|
Cpeo With Ragged-Red Fibers
|
Oculomotor Paralysis
|
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
|
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
|
Cpeo With Ragged Red Fibers
|
|
Ophthalmoplegia Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
|
Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
|
| 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 Dna Depletion Syndrome 4a |
|
Alpers Syndrome
|
Alpers-Huttenlocher Syndrome
|
|
Alpers Progressive Infantile Poliodystrophy
|
Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
|
|
Alpers Disease
|
Progressive Sclerosing Poliodystrophy
|
|
Pndc
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
MTDPS4A
|
Neuronal Degeneration Of Childhood With Liver Disease, Progressive
|
|
Alper'S Syndrome
|
Alpers' Disease Or Gray-Matter Degeneration
|
|
Diffuse Cerebral Degeneration In Infancy
|
Infantile Poliodystrophy
|
|
Poliodystrophia Cerebri Progressiva
|
Progressive Cerebral Poliodystrophy
|
|
Alpers' Disease
|
Alpers Progressive Sclerosing Poliodystrophy
|
|
Progressive Neuronal Degeneration Of Childhood With Liver Disease
|
Ahs
|
|
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
|
Neuronal Degeneration Of Childhood With Liver Disease Progressive
|
|
|
| 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
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| 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
|
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
|
Epm5
|
Miras
|
|
SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
|
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
|
Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
|
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
|
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
|
Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
|
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
|
Ataxia Neuropathy Spectrum
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| Chronic Progressive External Ophthalmoplegia |
|
Progressive External Ophthalmoplegia
|
Cpeo
|
|
Peo
|
Ophthalmoplegia, Chronic Progressive External
|
|
Ophthalmoplegia, External, Progressive, Chronic
|
Graefe Disease
|
|
Peo - [Progressive External Ophthalmoplegia]
|
Ophthalmoplegia Plus Syndrome
|
|
|
| 3-Methylglutaconic Aciduria |
|
3-Methyl Glutaconic Aciduria
|
|
|
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Narp Syndrome
|
NARP
|
|
Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa
|
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome
|
|
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome
|
Neuropathy, Ataxia And Retinitis Pigmentosa
|
|
Neuropathy Ataxia Retinitis Pigmentosa Syndrome
|
Neuropathy, Ataxia, And Retinitis Pigmentos
|
|
Neuropathy Ataxia And Retinitis Pigmentosa
|
Neuropathy, Ataxia, Retinitis Pigmentosa
|
|
Neuropathy Ataxia And Retinis Pigmentosa
|
Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
|
|
|
| Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency |
|
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency
|
Fatal Infantile Cox Deficiency
|
|
Fatal Infantile Cytochrome C Oxidase Deficiency
|
Fatal Infantile Encephalocardiomyopathy
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| 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
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
