| 疾病名称 |
别名 |
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| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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OPA13
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Optic Atrophy With Negative Electroretinograms, Formerly
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| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
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Autosomal Dominant Isolated Neurosensory Deafness Type Dfna
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Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
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Autosomal Dominant Isolated Sensorineural Deafness Type Dfna
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Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
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Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna
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Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
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Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
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| Mitochondrial Dna Depletion Syndrome 7 |
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Ohaha Syndrome
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Infantile Onset Spinocerebellar Ataxia
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Iosca
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Infantile-Onset Spinocerebellar Ataxia
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Spinocerebellar Ataxia 8
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MTDPS7
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Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
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Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
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Sca8
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Spinocerebellar Ataxia Infantile With Sensory Neuropathy
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Spinocerebellar Ataxia, Infantile-Onset
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Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
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Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
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Spinocerebellar Ataxia 8, Formerly
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Sca8, Formerly
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Iosca, Mitochondrial Dna Depletion Syndrome 7
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Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
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Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
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Mtdna Depletion Syndrome, Hepatocerebrorenal Form
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Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
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Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
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Pure Spinocerebellar Ataxia Japanese Type
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Sca4 Pure Japanese Type
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Spinocerebellar Ataxia Infantile-Onset
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Mitochondrial Dna Depletion Syndrome , Type 7
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| Kearns-Sayre Syndrome |
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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
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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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| Mitochondrial Dna Depletion Syndrome 4a |
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Alpers Syndrome
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Alpers-Huttenlocher Syndrome
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Alpers Progressive Infantile Poliodystrophy
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Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
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Alpers Disease
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Progressive Sclerosing Poliodystrophy
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Pndc
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Diffuse Cerebral Sclerosis Of Schilder
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MTDPS4A
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Neuronal Degeneration Of Childhood With Liver Disease, Progressive
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Alper'S Syndrome
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Alpers' Disease Or Gray-Matter Degeneration
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Diffuse Cerebral Degeneration In Infancy
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Infantile Poliodystrophy
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Poliodystrophia Cerebri Progressiva
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Progressive Cerebral Poliodystrophy
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Alpers' Disease
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Alpers Progressive Sclerosing Poliodystrophy
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Progressive Neuronal Degeneration Of Childhood With Liver Disease
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Ahs
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Mitochondrial Dna Depletion Syndrome 4a Alpers Type
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Neuronal Degeneration Of Childhood With Liver Disease Progressive
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| Chronic Progressive External Ophthalmoplegia |
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Progressive External Ophthalmoplegia
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Cpeo
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Peo
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Ophthalmoplegia, Chronic Progressive External
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Ophthalmoplegia, External, Progressive, Chronic
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Graefe Disease
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Peo - [Progressive External Ophthalmoplegia]
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Ophthalmoplegia Plus Syndrome
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| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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SANDO
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Mitochondrial Recessive Ataxia Syndrome
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Spinocerebellar Ataxia With Epilepsy
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Epilepsy, Progressive Myoclonic 5
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Epm5
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Miras
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SCAE
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Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
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Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
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Progressive Myoclonic Epilepsy Type 5
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Pme Type 5
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Progressive Myoclonus Epilepsy Type 5
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Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
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Recessive Mitochondrial Ataxia Syndrome
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Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
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Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
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Mscae
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Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
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Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
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Epilepsy, Progressive Myoclonic, 5
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Ataxia Neuropathy Spectrum
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| Mitochondrial Dna Depletion Syndrome |
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| 3-Methylglutaconic Aciduria, Type Iii |
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Optic Atrophy
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3-Methylglutaconic Aciduria Type 3
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Costeff Syndrome
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Mga3
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Costeff Optic Atrophy Syndrome
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Optic Atrophy Plus Syndrome
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Infantile Optic Atrophy With Chorea And Spastic Paraplegia
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3-Methylglutaconic Aciduria Type Iii
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Autosomal Recessive Optic Atrophy Plus Syndrome
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Autosomal Recessive Optic Atrophy Type 3
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Opa3 Defect
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MGCA3
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Mga, Type Iii
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Iraqi Jewish Optic Atrophy Plus
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Mga Type Iii
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Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
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Iraqi-Jewish 'Optic Atrophy Plus'
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Optic Atrophy 3, Autosomal Recessive
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Opa3, Autosomal Recessive
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Opa3-Related 3-Methylglutaconic Aciduria
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Iraqi-Jewish Optic Atrophy Plus
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Atrophy Of Optic Disc
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3-Alpha Methylglutaconic Aciduria Type Iii
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Optic Atrophy 3
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Optic Atrophy Infantile With Chorea And Spastic Paraplegia
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Autosomal Recessive Opa3
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Autosomal Recessive Optic Atrophy 3
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3-Methylglutaconic Aciduria 3
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3-Alpha-Methylglutaconic Aciduria Type 3
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Optic Atrophy 3 Autosomal Recessive
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Atrophy, Optic
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Atrophy, Optic, Plus Syndrome
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Optic Nerve Atrophy
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Primary Optic Atrophy
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Oa - [Optic Atrophy]
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Second Cranial Nerve Atrophy
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Second Cranium Nerve Atrophy
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| Infantile Cerebellar-Retinal Degeneration |
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ICRD
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Infantile Cerebellar Retinal Degeneration
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Degeneration, Cerebellar-Retinal, Infantile
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| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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PEOA4
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Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4
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Chronic Progressive External Ophthalmoplegia
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Progressive External Ophthalmoplegia, Autosomal Dominant 4
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Autosomal Dominant Progressive External Ophthalmoplegia 4
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Cpeo
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Graefe Disease
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Mitochondrial Ocular Myopathy
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Ocular Myopathy Of Von Graefe-Fuchs
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Progressive External Ophthalmoplegia Autosomal Dominant 4
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Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
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Kearns-Sayre Syndrome
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| Mitochondrial Dna Depletion Syndrome 1 |
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MTDPS1
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related
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Myoneurogastrointestinal Encephalopathy Syndrome
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Polip Syndrome
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Mitochondrial Dna Depletion Syndrome, Type 1
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Mngie, Tymp-Related
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Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction
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Mitochondrial Dna Depletion Syndrome 1, Mngie Type
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Mitochondrial Neurogastrointestinal Encephalomyopathy
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related
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Myoneurogastrointestinal Encephalomyopathy
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Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
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| Retinal Degeneration |
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| Mitochondrial Myopathy |
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Mitochondrial Myopathies
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Mitochondrial Cytopathy
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Myopathies In Mitochondrial Disorders
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| Leber Hereditary Optic Neuropathy, Modifier Of |
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Leber Optic Atrophy
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Leber Hereditary Optic Neuropathy
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LHON
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Leber'S Hereditary Optic Neuropathy
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Leber Optic Atrophy, Susceptibility To
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Leber'S Optic Atrophy
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LOAM
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Loas
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Leber'S Disease
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Leber'S Optic Neuropathy
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Optic Atrophy, Hereditary, Leber
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Lhon, Modifier Of
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Optic Atrophy, Leber Type
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Hereditary Optic Neuroretinopathy
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Leber Hereditary Optic Atrophy
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Loa
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Optic Atrophy Leber Type
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Leber Hereditary Optic Neuropathy, Modifier
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Leber Hereditary Optic Neuropathy Susceptibility
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Modifier Of Leber Hereditary Optic Neuropathy
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Lebers Hereditary Optic Neuropathy
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Leber Congenital Amaurosis
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| Perrault Syndrome |
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Gonadal Dysgenesis, Xx Type, With Deafness
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Ovarian Dysgenesis With Sensorineural Deafness
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Gonadal Dysgenesis, Xx Type
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Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
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Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
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Xx Gonodal Dysgenesis-Deafness Syndrome
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Xx Gonodal Dysgenesis-Hearing Loss Syndrome
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Gonadal Dysgenesis Xx Type Deafness
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| Optic Nerve Disease |
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Optic Neuropathy
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Disorder Of The Second Nerve
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Optic Nerve Disorder
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Optic Nerve
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Abnormality Of The Optic Nerve
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Optic Nerve Disorders
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Neuropathy, Optic
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Disorder Of The Optic Nerve
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| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Melas Syndrome
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MELAS
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Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
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Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
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Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
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Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
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Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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| Leigh Syndrome |
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Leigh Disease
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Infantile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
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LS
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Sne
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Leigh'S Disease
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Leigh Syndrome Due To Mitochondrial Complex I Deficiency
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Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
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Subacute Necrotizing Encephalomyelopathy
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Necrotizing Encephalopathy Infantile Subacute Of Leigh
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Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
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Infantile Necrotizing Encephalomyelopathy
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Juvenile Subacute Necrotizing Encephalomyelopathy
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Leigh'S Necrotizing Encephalopathy
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Subacute Necrotizing Encephalopathy
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Juvenile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
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Leigh Syndrome Due To Mitochondrial Complex V Deficiency
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Encephalopathy, Subacute Necrotizing, Infantile
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Encephalopathy, Subacute Necrotizing, Juvenile
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Maternally Inherited Leigh Syndrome
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Subacute Necrotising Encephalomyelopathy
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Subacute Necrotising Encephalopathy
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