| 疾病名称 |
别名 |
|
| Ataxia With Vitamin E Deficiency |
|
Ataxia With Isolated Vitamin E Deficiency
|
AVED
|
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Familial Isolated Vitamin E Deficiency
|
Friedreich-Like Ataxia
|
|
Familial Isolated Deficiency Of Vitamin E
|
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
|
Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency
|
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Vitamin E Familial Isolated, Deficiency Of
|
Ataxia Friedreich-Like With Selective Vitamin E Deficiency
|
|
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
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Friedreich Ataxia With Retained Reflexes
|
Frda1
|
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Fa
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Friedreich'S Ataxia
|
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Hereditary Spinal Ataxia
|
Fa1
|
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Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
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Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
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| Abetalipoproteinemia |
|
Acanthocytosis
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ABL
|
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Bassen-Kornzweig Syndrome
|
Mtp Deficiency
|
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Familial Hypobetalipoproteinemia
|
Abetalipoproteinaemia
|
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Microsomal Triglyceride Transfer Protein Deficiency
|
Microsomal Triglyceride Transfer Protein Deficiency Disease
|
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Abetalipoproteinemia Neuropathy
|
Apolipoprotein B Deficiency
|
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Bassen-Kornzweig Disease
|
Betalipoprotein Deficiency Disease
|
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Congenital Betalipoprotein Deficiency Syndrome
|
Homozygous Familial Hypobetalipoproteinemia
|
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Fhbl
|
Bassen Kornzweig Syndrome
|
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Hypobetalipoproteinemia, Familial
|
Hypobetalipoproteinemia
|
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Hypobetalipoproteinemias
|
Hypobetalipoproteinemia, Familial, Apolipoprotein B
|
|
|
| Cerebellar Ataxia, Cayman Type |
|
Cayman Type Cerebellar Ataxia
|
Ataxia, Cerebellar, Cayman Type
|
|
ATCAY
|
Cayman Cerebellar Ataxia
|
|
Cayman Ataxia
|
|
|
| Tabes Dorsalis |
|
Posterior Spinal Sclerosis
|
Tabes Dorsalis - Neurosyphilis
|
|
Syphilitic Myelopathy
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
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Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
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Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Charlevoix-Saguenay Spastic Ataxia
|
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
|
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Arsacs
|
SACS
|
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Spax6
|
Spastic Ataxia Charlevoix-Saguenay Type
|
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Spastic Ataxia 6, Autosomal Recessive
|
Autosomal Recessive Spastic Ataxia Type 6
|
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Spastic Ataxia Of Charlevoix-Saguenay
|
Atx/Hsp-Sacs
|
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Ataxia, Spastic, Charlevoix-Saguenay Type
|
|
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| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
PEOA3
|
Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3
|
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3
|
Chronic Progressive External Ophthalmoplegia
|
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Progressive External Ophthalmoplegia, Autosomal Dominant 3
|
Autosomal Dominant Progressive External Ophthalmoplegia 3
|
|
Cpeo
|
Graefe Disease
|
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Mitochondrial Ocular Myopathy
|
Ocular Myopathy Of Von Graefe-Fuchs
|
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Progressive External Ophthalmoplegia Autosomal Dominant 3
|
Progressive External Ophthalmoplegia, Autosomal Dominant, 3
|
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 3
|
Kearns-Sayre Syndrome
|
|
|
| Lichtenstein-Knorr Syndrome |
|
Scar19
|
LIKNS
|
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Autosomal Recessive Spinocerebellar Ataxia 19
|
Spinocerebellar Ataxia, Autosomal Recessive 19
|
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Progressive Autosomal Recessive Ataxia-Deafness Syndrome
|
Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome
|
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Spinocerebellar Ataxia, Autosomal Recessive, 19
|
|
|
| Refsum Disease, Classic |
|
Refsum Disease
|
Heredopathia Atactica Polyneuritiformis
|
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Phytanic Acid Oxidase Deficiency
|
Hmsn Iv
|
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Refsum Disease, Adult, 1
|
Refsum'S Disease
|
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Phytanic Acid Storage Disease
|
Hereditary Motor And Sensory Neuropathy Iv
|
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Hmsn4
|
Hmsn Type Iv
|
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Hmsn 4
|
Adult Refsum Disease
|
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Classic Refsum Disease
|
Hereditary Motor And Sensory Neuropathy Type Iv
|
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Refsum Syndrome
|
Hsmn Iv
|
|
Disorder Of Cornification 11
|
Doc 11
|
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Hereditary Sensory And Motor Neuropathy Type 4
|
Hypertrophic Neuropathy Of Refsum
|
|
Ard
|
Crd
|
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Hereditary Motor And Sensory Neuropathy Type 4
|
Phytanic-Coa Hydroxylase Deficiency
|
|
RD
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
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Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
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| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
SCAR27
|
Autosomal Recessive Spinocerebellar Ataxia 27
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 27
|
|
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Aoa1
|
Ataxia-Telangiectasia-Like Disorder
|
|
EAOH
|
Eoca-Ha
|
|
Ataxia With Oculomotor Apraxia Type 1
|
Ataxia-Oculomotor Apraxia 1
|
|
Ataxia-Oculomotor Apraxia Syndrome
|
AOA
|
|
Ataxia-Telangiectasia-Like Syndrome
|
Ataxia-Oculomotor Apraxia Type 1
|
|
Ataxia With Oculomotor Apraxia
|
Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
|
|
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia
|
Early-Onset Cerebellar Ataxia With Hypoalbuminemia
|
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Adult Onset Ataxia With Oculomotor Apraxia
|
Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
|
|
Scan2
|
Scar1
|
|
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
|
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
|
|
Atld
|
Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
|
|
Cerebellar Ataxia Early-Onset With Hypoalbuminemia
|
Ataxia-Oculomotor Apraxia
|
|
Spinocerebellar Ataxia, Autosomal Recessive 1
|
|
|
| Marinesco-Sjogren Syndrome |
|
Marinesco-Sjögren Syndrome
|
MSS
|
|
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
|
|
|
| Dissociated Nystagmus |
|
|
| Tertiary Syphilis |
|
Late Syphilis
|
Syphilis, Tertiary
|
|
Late Syphilis, Unspecified
|
Late Tertiary Syphilis
|
|
|
| Spinocerebellar Ataxia, X-Linked 1 |
|
X-Linked Progressive Cerebellar Ataxia
|
SCAX1
|
|
Opcax
|
X-Linked Spinocerebellar Ataxia 1
|
|
Olivopontocerebellar Atrophy, X-Linked
|
Opca, X-Linked
|
|
Olivopontocerebellar Atrophy X-Linked
|
Opca X-Linked
|
|
Ataxia, Spinocerebellar, X-Linked Type 1
|
|
|
| Early Congenital Syphilis |
|
|
| Tertiary Neurosyphilis |
|
Late Neurosyphilis
|
Late Syphilis Of Central Nervous System Nos
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Aoa2
|
Ataxia With Oculomotor Apraxia Type 2
|
|
Scar1
|
SCAN2
|
|
Ataxia-Oculomotor Apraxia 2
|
Ataxia-Ocular Apraxia 2
|
|
Ataxia-Oculomotor Apraxia Type 2
|
Scan 2
|
|
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
|
Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
|
|
Scar1, Formerly
|
Autosomal Recessive Spinocerebellar Ataxia-1
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 1
|
Ataxia-Ocular Apraxia-2
|
|
Spinocerebellar Ataxia, Autosomal Recessive 1
|
|
|
| Vitamin Metabolic Disorder |
|
|
| Meningovascular Neurosyphilis |
|
|
| Cerebrotendinous Xanthomatosis |
|
CTX
|
Cerebral Cholesterinosis
|
|
Cholestanol Storage Disease
|
Xanthomatosis, Cerebrotendinous
|
|
Sterol 27-Hydroxylase Deficiency
|
Xanthomatosis Cerebrotendinous
|
|
Cerebrotendinous Cholesterinosis
|
Cholestanolosis
|
|
Van Bogaert-Scherer-Epstein Disease
|
|
|
| Hypolipoproteinemia |
|
Hypolipoproteinaemia
|
Lipoprotein Deficiencies
|
|
Lipoprotein Disorder
|
Hypolipoproteinemias
|
|
Lipoprotein
|
Lipoprotein Deficiency
|
|
Hypolipidaemia
|
Lipoprotein Deficiency Disorder
|
|
High-Density Lipoid Deficiency
|
High-Density Lipoprotein Deficiency
|
|
Dyslipidaemia, Depressed Hdl Cholesterol
|
|
|
| Vestibular Nystagmus |
|
Nystagmus Associated With Disorder Of The Vestibular System
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| X-Linked Cerebellar Ataxia |
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
MRXSBL
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
|
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
Mental Retardation, X-Linked 60, Formerly
|
|
Mrx60, Formerly
|
Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
|
|
Mrx60
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
|
|
|
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Mitochondrial Complex Iii Deficiency Nuclear Type 2
|
MC3DN2
|
|
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
|
MC2DN3
|
|
Mitochondrial Complex 2 Deficiency, Nuclear Type 3
|
Mitochondrial Complex Iii Deficiency, Nuclear 2
|
|
|
| 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
|
|
|
| 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
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Arca1
|
Autosomal Recessive Cerebellar Ataxia Type 1
|
|
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
|
|
|
| Spastic Paraplegia 7, Autosomal Recessive |
|
SPG7
|
Hereditary Spastic Paraplegia 7
|
|
Spastic Paraplegia Type 7
|
Spastic Paraplegia 7
|
|
Hereditary Spastic Paraplegia, Paraplegin Type
|
Autosomal Recessive Spastic Paraplegia 7
|
|
Hereditary Spastic Paraplegia Paraplegin Type
|
Spastic Paraplegia-7
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 7
|
Spastic Paraplegia, Hereditary
|
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Dystonia 11, Myoclonic |
|
Myoclonic Dystonia
|
Myoclonus-Dystonia Syndrome
|
|
DYT11
|
Myoclonic Dystonia 11
|
|
Alcohol-Responsive Dystonia
|
Myoclonus, Hereditary Essential
|
|
Dystonia-11, Myoclonic
|
Myoclonus-Dystonia
|
|
Dystonia 11
|
Hereditary Essential Myoclonus
|
|
Dystonia, Alcohol-Responsive
|
Dyt-Sgce
|
|
Dystonia, Alcohol Responsive
|
Dystonia-11
|
|
Dystonia, Myoclonic
|
Dystonia, Myoclonic, Type 11
|
|
|
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysequilibrium Syndrome
|
CAMRQ1
|
|
Des
|
Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
|
|
Cerebellar Hypoplasia, Vldlr-Associated
|
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1
|
|
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome
|
Uner Tan Syndrome
|
|
Vldlr Cerebellar Hypoplasia
|
Vldlrch
|
|
Vldlr-Associated Cerebellar Hypoplasia
|
Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
|
|
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive
|
Camrq
|
|
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1
|
Cerebellar Disorder, Nonprogressive, With Intellectual Disability
|
|
Cerebellar Hypoplasia, Vldlr Associated
|
Autosomal Recessive Cerebellar Ataxia With Mental Retardation
|
|
Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification
|
Cerebellar Disorder, Nonprogressive, With Mental Retardation
|
|
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion
|
Chmrq1
|
|
Des-Vldlr
|
Dysequilibrium Syndrome-Vldlr
|
|
Vldlr-Ch
|
Camrq Syndrome
|
|
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome
|
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome
|
|
Uts
|
Cerebellar Hypoplasia Vldlr-Associated
|
|
Dialysis Disequilibrium Syndrome
|
|
|
| Spastic Ataxia |
|
|
| Episodic Ataxia |
|
Isaacs Syndrome
|
Neuromyotonia
|
|
Isaacs' Syndrome
|
Acquired Neuromyotonia
|
|
Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
|
Isaacs-Mertens Syndrome
|
Ea Syndrome
|
|
Episodic Ataxia Syndrome
|
Isaac Syndrome
|
|
Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
|
Peripheral Nerve Hyperexcitability
|
Ea
|
|
Peripheral Nerve Hyperexcitability Syndrome
|
Ataxia, Episodic
|
|
Isaacs Neuromyotonia
|
Continuous Muscle Fibre Activity
|
|
|
