| 疾病名称 |
别名 |
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| Mitochondrial Dna Depletion Syndrome 8a |
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Mitochondrial Dna Depletion Syndrome 8b
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MTDPS8A
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Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
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Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related
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Rrm2b-Related Mitochondrial Dna Depletion Syndrome
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Encephalomyopathic Type With Renal Tubulopathy
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Rrm2b-Mds
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Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy
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Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy
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Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive
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MTDPS8B
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Mitochondrial Dna Depletion Syndrome 8b Mngie Type
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related
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Mngie Rrm2b-Related
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Visceral Myopathy Familial External Ophthalmoplegia
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Mitochondrial Dna Depletion Syndrome, Type 8a
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| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
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PEOA5
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
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Progressive External Ophthalmoplegia, Autosomal Dominant 5
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Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 5
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Autosomal Dominant Progressive External Ophthalmoplegia 5
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Progressive External Ophthalmoplegia Autosomal Dominant 5
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Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 5
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| Autosomal Dominant Progressive External Ophthalmoplegia |
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| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
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PEOB2
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Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
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Adult-Onset Cpeo With Mitochondrial Myopathy
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Progressive External Ophthalmoplegia, Autosomal Recessive 2
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Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2
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Autosomal Recessive Progressive External Ophthalmoplegia 2
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Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Recessive, Type 2
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| Camptocormism |
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Idiopathic Camptocormia
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Idiopathic Camptocormism
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Idiopathic Progressive Lumbar Kyphosis
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Bent Spine Syndrome
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Bent Spine
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Camptocormia
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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 Neurogastrointestinal Encephalomyopathy |
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Mngie
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Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome
|
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
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| Mitochondrial Disease |
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Mitochondrial Diseases
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Mitochondrial Disorder
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| Fanconi Renotubular Syndrome 1 |
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Renal Fanconi Syndrome
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Adult Fanconi Syndrome
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FRTS1
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Fanconi Renotubular Syndrome
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Frts
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Rfs
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Fanconi Syndrome Without Cystinosis
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Luder-Sheldon Syndrome
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| Mitochondrial Dna Depletion Syndrome |
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| Sensorineural Hearing Loss |
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Sensory Hearing Loss
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Sensorineural Deafness
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
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Central Hearing Loss
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High Frequency Deafness
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
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Perceptive Deafness
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Perceptive Hearing Loss
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
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| Mitochondrial Dna Depletion Syndrome 6 |
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Navajo Neurohepatopathy
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Navajo Neuropathy
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MTDPS6
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Nnh
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Nn
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Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
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Navajo Familial Neurogenic Arthropathy
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Mpv17-Associated Hepatocerebral Mds
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Mitochondrial Dna Depletion 6 Hepatocerebral Type
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Mitochondrial Dna Depletion Syndrome , Type 6
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| Squamous Cell Carcinoma |
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Epidermoid Carcinoma
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Squamous Cell Cancer
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Carcinoma, Squamous Cell
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Squamous Cell Skin Cancer
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Malignant Squamous Cell Tumor
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Squamous Carcinoma
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Squamous Cell Epithelioma
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Carcinoma Squamous Cell
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Neoplasms, Squamous Cell
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Squamous Cell Carcinoma - Category
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Malignant Squamous Cell Neoplasm
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Squamous Cell Carcinoma Of Skin
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| Axonal Neuropathy |
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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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| Retinitis Pigmentosa |
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RP
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Rod-Cone Dystrophy
|
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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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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| Ptosis |
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Blepharoptosis
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Drooping Eyelid
|
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Droopy Eyelid
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Ptosis Of Eyelid
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Paralysis Of Levator Palpebrae Superioris
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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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| Lactic Acidosis |
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Acidosis, Lactic
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Acidosis Lactic
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|
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| Mitochondrial Metabolism Disease |
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Abnormality Of Mitochondrial Metabolism
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Mitochondrial Diseases
|
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Mitochondrial Myopathy And Sideroblastic Anemia
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MLASA1
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Mlasa
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Myopathy, Lactic Acidosis And Sideroblastic Anemia
|
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Myopathy With Lactic Acidosis And Sideroblastic Anemia
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Sideroblastic Anemia And Mitochondrial Myopathy
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Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
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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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| Mitochondrial Dna Depletion Syndrome 4b |
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
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Mngie Syndrome
|
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Thymidine Phosphorylase Deficiency
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MTDPS4B
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Mitochondrial Neurogastrointestinal Encephalopathy Disease
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Mngie
|
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Myoneurogastrointestinal Encephalopathy Syndrome
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Ogimd
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Oculogastrointestinal Muscular Dystrophy
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Polip
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Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
|
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Mngie, Polg-Related
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Mepop
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Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction
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Mngie Disease
|
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Mitochondrial Dna Depletion Syndrome 4b Mngie Type
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
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Mngie Polg-Related
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Mitochondrial Dna Depletion Syndrome, Type 4b
|
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Visceral Myopathy Familial External Ophthalmoplegia
|
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| Ocular Motility Disease |
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Ocular Motility Disorders
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Abnormality Of Eye Movement
|
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Disorder Of Eye Movements
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Eye Movement Disorder
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Eye Movement Disorders
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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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| Moebius Syndrome |
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Mobius Syndrome
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Moebius Sequence
|
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Oromandibular-Limb Hypogenesis Spectrum
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Congenital Facial Diplegia
|
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MBS
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Moebius Congenital Oculofacial Paralysis
|
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Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves
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Congenital Facial Diplegia Syndrome
|
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Congenital Oculofacial Paralysis
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Congenital Ophthalmoplegia And Facial Paresis
|
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Moebius Spectrum
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Möbius Sequence
|
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Möbius Syndrome
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Mobius Ii 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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| Myopathy |
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Muscular Diseases
|
Myopathies
|
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| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
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Encephalomyopathy, Mitochondrial
|
|
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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
|
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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| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
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Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
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Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
|
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 |
|
Leigh Disease
|
Infantile Subacute Necrotizing Encephalopathy
|
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Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
|
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
|
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
|
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
|
Juvenile Subacute Necrotizing Encephalopathy
|
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Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
|
Leigh Syndrome Due To Mitochondrial Complex V Deficiency
|
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Encephalopathy, Subacute Necrotizing, Infantile
|
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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