| 疾病名称 |
别名 |
|
| Spinocerebellar Ataxia 10 |
|
Spinocerebellar Ataxia Type 10
|
SCA10
|
|
Spinocerebellar Ataxia-10
|
Ataxia, Spinocerebellar, Type 10
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| Huntington Disease-Like 2 |
|
HDL2
|
Huntington'S Disease-Like 2
|
|
Huntington Disease-Like, Type 2
|
|
|
| Myotonic Dystrophy 2 |
|
Myotonic Dystrophy Type 2
|
Proximal Myotonic Myopathy
|
|
Promm
|
Ricker Syndrome
|
|
DM2
|
Dystrophia Myotonica 2
|
|
Myotonic Myopathy, Proximal
|
Myotonic Disorders
|
|
Dystrophia Myotonica Type 2
|
Proximal Myotonic Dystrophy
|
|
Ricker Disease
|
Myotonic Dystrophy, Type 2
|
|
Dystrophy, Myotonic, Type 2
|
|
|
| Spinocerebellar Ataxia 36 |
|
Spinocerebellar Ataxia Type 36
|
SCA36
|
|
Asidan Ataxia
|
Costa De Morte Ataxia
|
|
Asidan
|
Ataxia, Spinocerebellar, Type 36
|
|
|
| Far Eastern Spotted Fever |
|
Rickettsia Heilongjiangensis Spotted Fever
|
|
|
| X-Linked Hereditary Ataxia |
|
|
| Cerebellar Ataxia Type 9 |
|
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
|
Friedreich Ataxia With Retained Reflexes
|
Frda1
|
|
Fa
|
Friedreich'S Ataxia
|
|
Hereditary Spinal Ataxia
|
Fa1
|
|
Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
|
Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
|
|
| Spinocerebellar Ataxia 35 |
|
Spinocerebellar Ataxia Type 35
|
SCA35
|
|
Ataxia, Spinocerebellar, Type 35
|
|
|
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Fxtas Syndrome
|
Fragile X Tremor/Ataxia Syndrome
|
|
Fxtas
|
|
|
| Spinocerebellar Ataxia 21 |
|
Spinocerebellar Ataxia Type 21
|
SCA21
|
|
Ataxia, Spinocerebellar, Type 21
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Epilepsy, Familial Adult Myoclonic, 6 |
|
FAME6
|
Benign Adult Familial Myoclonic Epilepsy 6
|
|
Bafme6
|
Fcmte6
|
|
Cortical Myoclonic Tremor With Epilepsy, Familial, 6
|
Familial Adult Myoclonic Epilepsy 6
|
|
Familial Cortical Myoclonic Tremor And Epilepsy 6
|
Epilepsy, Myoclonic, Familial Adult, Type 6
|
|
|
| Epilepsy, Familial Adult Myoclonic, 7 |
|
FAME7
|
Bafme7
|
|
Fcmte7
|
Benign Adult Familial Myoclonic Epilepsy 7
|
|
Cortical Myoclonic Tremor With Epilepsy, Familial, 7
|
Familial Adult Myoclonic Epilepsy 7
|
|
Familial Cortical Myoclonic Tremor And Epilepsy 7
|
Benign Adult Familial Myoclonic Epilepsy 27
|
|
Epilepsy, Myoclonic, Familial Adult, Type 7
|
|
|
| Spinocerebellar Ataxia 8 |
|
Spinocerebellar Ataxia Type 8
|
SCA8
|
|
Ataxia, Spinocerebellar, Type 8
|
|
|
| Spinocerebellar Ataxia 40 |
|
Spinocerebellar Ataxia Type 40
|
SCA40
|
|
Ataxia, Spinocerebellar, Type 40
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
MC1DN33
|
Nuclear Type Mitochondrial Complex I Deficiency 33
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 33
|
|
|
| Spinocerebellar Ataxia 2 |
|
Spinocerebellar Ataxia Type 2
|
SCA2
|
|
Amyotrophic Lateral Sclerosis 13
|
Spinocerebellar Degeneration With Slow Eye Movements
|
|
SDSEM
|
Spinocerebellar Atrophy Ii
|
|
Olivopontocerebellar Atrophy Ii
|
Opca2
|
|
Cerebellar Degeneration With Slow Eye Movements
|
Wadia-Swami Syndrome
|
|
Amyotrophic Lateral Sclerosis Type 13
|
ALS13
|
|
Olivopontocerebellar Atrophy Holguin Type
|
Spinocerebellar Ataxia Cuban Type
|
|
Olivopontocerebellar Atrophy, Holguin Type
|
Spinocerebellar Ataxia, Cuban Type
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To, 13
|
Olivopontocerebellar Atrophy 2
|
|
Sca 2
|
Spinocerebellar Ataxia With Slow Eye Movements
|
|
Spinocerebellar Atrophy 2
|
Wadia Swami Syndrome
|
|
Opca Ii
|
Spinocerebellar Ataxia-2
|
|
Ataxia, Spinocerebellar, Type 2
|
|
|
| Myotonic Disease |
|
Myotonic Disorders
|
Myotonic Syndrome
|
|
Symptomatic Myotonia
|
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
DRPLA
|
Naito-Oyanagi Disease
|
|
Haw River Syndrome
|
Myoclonic Epilepsy With Choreoathetosis
|
|
Nod
|
Ataxia, Chorea, Seizures, And Dementia
|
|
Dentatorubropallidoluysian Atrophy
|
Hrs
|
|
Naito Oyanagi Disease
|
Dentatorubral Pallidoluysian Atrophy
|
|
Dentatorubro-Pallidoluysian Atrophy
|
Myoclonic Epilepsies, Progressive
|
|
Atrophy, Pallidoluysian, Dentatorubral
|
|
|
| X-Linked Cerebellar Ataxia |
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Spinocerebellar Ataxia 31 |
|
Spinocerebellar Ataxia Type 31
|
SCA31
|
|
Spinocerebellar Ataxia 16q22-Linked
|
Spinocerebellar Ataxia, 16q22-Linked
|
|
Pure Spinocerebellar Ataxia Japanese Type
|
Sca4 Pure Japanese Type
|
|
Ataxia, Spinocerebellar, Type 31
|
|
|
| Familial Adult Myoclonic Epilepsy |
|
Benign Adult Familial Myoclonus Epilepsy
|
Bafme
|
|
Benign Adult Familial Myoclonic Epilepsy
|
Fame
|
|
Familial Cortical Myoclonic Tremor And Epilepsy
|
Fcmte
|
|
Adcme
|
Autosomal Dominant Cortical Myoclonus And Epilepsy
|
|
Fam
|
Epilepsy, Myoclonic, Familial Adult
|
|
Epilepsy, Myoclonic, Benign Adult Familial, Type 2
|
|
|
| Holoprosencephaly 5 |
|
HPE5
|
Holoprosencephaly-5
|
|
Holoprosencephaly, Type 5
|
|
|
| Spinocerebellar Ataxia 37 |
|
Spinocerebellar Ataxia Type 37
|
SCA37
|
|
Spinocerebellar Ataxia With Altered Vertical Eye Movements
|
|
|
| Cerebellar Ataxia Type 48 |
|
|
| Epilepsy, Familial Adult Myoclonic, 3 |
|
FAME3
|
Fcmte3
|
|
Cortical Myoclonic Tremor With Epilepsy, Familial, 3
|
Familial Adult Myoclonic Epilepsy 3
|
|
Familial Cortical Myoclonic Tremor And Epilepsy 3
|
Epilepsy, Myoclonic, Familial Adult, Type 3
|
|
|
| Olivopontocerebellar Atrophy |
|
Thomas Syndrome
|
Olivopontocerebellar Atrophies
|
|
Dejerine-Thomas Syndrome
|
Thomas' Syndrome
|
|
Wadia-Swami Syndrome
|
Opca
|
|
Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome
|
Spinocerebellar Ataxia Type 2
|
|
|
| Angelman Syndrome |
|
AS
|
Happy Puppet Syndrome
|
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
| Spinocerebellar Ataxia 1 |
|
Spinocerebellar Ataxia Type 1
|
SCA1
|
|
Olivopontocerebellar Atrophy I
|
Opca1
|
|
Opca4
|
Menzel Type Opca
|
|
Schut-Haymaker Type Opca
|
Spinocerebellar Atrophy I
|
|
Opca I
|
Olivopontocerebellar Atrophy Iv
|
|
Opca Iv
|
Cerebelloparenchymal Disorder I
|
|
Cpd1
|
Olivopontocerebellar Atrophy 1
|
|
Cerebelloparenchymal Disorder 1
|
Olivopontocerebellar Atrophy 4
|
|
Spinocerebellar Atrophy 1
|
Type 1 Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia-1
|
Ataxia, Spinocerebellar, Type 1
|
|
|
| Spinocerebellar Ataxia 17 |
|
Spinocerebellar Ataxia Type 17
|
SCA17
|
|
Huntington Disease-Like 4
|
Hdl4
|
|
Olivopontocerebellar Atrophy V
|
Cerebelloparenchymal Disorder Ii
|
|
Opca5
|
Cpd2
|
|
Sca 17
|
Ataxia, Spinocerebellar, Type 17
|
|
|
| Myotonic Dystrophy 1 |
|
Myotonic Dystrophy
|
Dystrophia Myotonica
|
|
Steinert Disease
|
Myotonic Dystrophy Type 1
|
|
Myotonia Atrophica
|
DM1
|
|
Congenital Myotonic Dystrophy
|
Myotonia Dystrophica
|
|
Steinert Myotonic Dystrophy
|
Dystrophia Myotonica 1
|
|
Dm
|
Steinert'S Disease
|
|
Steinert Myotonic Dystrophy Syndrome
|
Myotonic Dystrophy Of Steinert
|
|
Dystrophia Myotonica Type 1
|
Myotonic Dystrophy Congenital
|
|
Dystrophy, Myotonic, Type 1
|
Dm - [Dystrophia Myotonica]
|
|
Myotonic Muscular Dystrophy
|
|
|
| Machado-Joseph Disease |
|
SCA3
|
MJD
|
|
Spinocerebellar Ataxia 3
|
Azorean Disease
|
|
Spinocerebellar Ataxia Type 3
|
Spinocerebellar Atrophy
|
|
Azorean Neurologic Disease
|
Spinopontine Atrophy
|
|
Nigrospinodentatal Degeneration
|
Spinocerebellar Atrophy Iii
|
|
Spinocerebellar Atrophy Type 3
|
Azorean Ataxia
|
|
Azorean Disease Of The Nervous System
|
Machado Disease
|
|
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia
|
Disease, Machado-Joseph
|
|
Ataxia, Spinocerebellar
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Kennedy Disease
|
Sbma
|
|
Spinal And Bulbar Muscular Atrophy
|
Kennedy'S Disease
|
|
X-Linked Spinal And Bulbar Muscular Atrophy
|
SMAX1
|
|
Kd
|
Kennedy Spinal And Bulbar Muscular Atrophy
|
|
Spinobulbar Muscular Atrophy
|
Bulbospinal Muscular Atrophy, X-Linked
|
|
Bulbospinal Neuronopathy, X-Linked Recessive
|
Xbsn
|
|
Spinal And Bulbar Muscular Atrophy Of Kennedy
|
Bulbospinal Muscular Atrophy
|
|
X-Linked Bulbospinal Amyotrophy
|
Bulbo-Spinal Atrophy, X-Linked
|
|
Spinal Bulbar Muscular Atrophy
|
X-Linked Bulbo-Spinal Atrophy
|
|
X-Linked Spinal Bulbar Muscular Atrophy
|
X-Linked Bsma
|
|
X-Linked Bulbospinal Muscular Atrophy
|
Spinal And Bulbar Muscular Atrophy X-Linked 1
|
|
Bulbospinal Muscular Atrophy X-Linked
|
Bulbospinal Neuronopathy X-Linked Recessive
|
|
Kennedy Disease)
|
Kennedy Syndrome
|
|
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type
|
Atrophy, Muscular, Spinobulbar
|
|
Bulbospinal Neuronopathy
|
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Premature Ovarian Failure 1 |
|
Ovarian Failure, Premature
|
Fmr1-Related Primary Ovarian Insufficiency
|
|
Fragile X-Associated Primary Ovarian Insufficiency
|
POF1
|
|
Pofx
|
Hypergonadotropic Ovarian Failure, X-Linked
|
|
Pof
|
Primary Ovarian Insufficiency, Fragile X-Associated
|
|
Primary Ovarian Insufficiency 1
|
Ovarian Failure Premature
|
|
Premature Ovarian Failure, X-Linked
|
Fragile X Premature Ovarian Failure
|
|
Fmr1-Related Premature Ovarian Failure
|
Familial Premature Ovarian Failure
|
|
Idiopathic Familial Premature Ovarian Failure
|
Fxpoi
|
|
X-Linked Hypergonadotropic Ovarian Failure
|
Hypergonadotropic Ovarian Failure X-Linked
|
|
Poi
|
Premature Ovarian Failure X-Linked
|
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure-1
|
|
Ovarian Failure, Premature, Type 1
|
Premature Ovarian Failure, Familial
|
|
Premature Menopause
|
Primary Hypogonadism
|
|
Turner Syndrome
|
|
|
| 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
|
|
|
| Fuchs' Endothelial Dystrophy |
|
Fuchs Endothelial Corneal Dystrophy
|
Fuchs Endothelial Dystrophy
|
|
Fuchs Dystrophy
|
Fced
|
|
Fuchs' Corneal Dystrophy
|
Fuchs' Endothelial Corneal Dystrophy
|
|
Fuchs Atrophy
|
Fuchs Corneal Dystrophy
|
|
Endoepithelial Corneal Dystrophy
|
Fecd
|
|
Late Hereditary Endothelial Dystrophy
|
Corneal Dystrophy, Fuchs Endothelial
|
|
Dystrophy, Corneal, Fuchs Endothelial
|
Corneal Dystrophy, Fuchs' Endothelial, 1
|
|
|
| Choreatic Disease |
|
|
| 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
|
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
| Spastic Ataxia |
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
