ATXN7 - ataxin 7 Gene

Spinocerebellar Ataxia Type 7

SCA7

Opca3

Opca Iii

Olivopontocerebellar Atrophy Iii

Opca With Retinal Degeneration

Opca With Macular Degeneration And External Ophthalmoplegia

Adca, Type Ii

Autosomal Dominant Cerebellar Ataxia Type 2

Olivopontocerebellar Atrophy 3

Autosomal Dominant Cerebellar Ataxia, Type Ii

Autosomal Dominant Cerebellar Ataxia Type Ii

Adca2

Adcaii

Ataxia With Pigmentary Retinopathy

Cerebellar Syndrome-Pigmentary Maculopathy Syndrome

Olivopontocerebellar Atrophy With Retinal Degeneration

Spinocerebellar Ataxia-7

Ataxia, Spinocerebellar, Type 7

Degeneration Of Retina

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

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

Spinocerebellar Ataxia Type 12

SCA12

Ataxia, Spinocerebellar, Type 12

Thomas Syndrome

Olivopontocerebellar Atrophies

Dejerine-Thomas Syndrome

Thomas' Syndrome

Wadia-Swami Syndrome

Opca

Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

Spinocerebellar Ataxia Type 2

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

Ophthalmoplegia

Mitochondrial Cytopathy

KSS

Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

Oculocraniosomatic Syndrome

Chronic Progressive External Ophthalmoplegia With Myopathy

Cpeo With Myopathy

Total Ophthalmoplegia

Ophthalmoplegia-Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

Cpeo With Ragged-Red Fibers

Oculomotor Paralysis

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

Cpeo With Ragged Red Fibers

Ophthalmoplegia Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged Red Fibers

Kearns-Sayre Mitochondrial Cytopathy

Mitochondrial Myopathies

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17

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

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

Spinocerebellar Ataxia Type 4

SCA4

Spinocerebellar Ataxia, Autosomal Dominant, With Sensory Axonal Neuropathy

Spinocerebellar Ataxia Autosomal Dominant With Sensory Axonal Neuropathy

Spinocerebellar Ataxia-4

Spinocerebellar Ataxias

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6

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

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2

Sca42

Sca48

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

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

SCAR4

Scasi

Spinocerebellar Ataxia With Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia 24

Autosomal Recessive Spinocerebellar Ataxia 4

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

Spinocerebellar Ataxia Autosomal Recessive 4

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Episodic Ataxia Type 2

EA2

Apca

Capa

Cerebellopathy, Hereditary Paroxysmal

Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

Episodic Ataxia With Nystagmus

Ataxia, Episodic, With Nystagmus

Episodic Ataxia, Nystagmus-Associated

Ataxia, Familial Paroxysmal

Acetazolamide-Responsive Episodic Ataxia Syndrome

Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

Ataxia, Familial, Paroxysmal

Nystagmus-Associated Episodic Ataxia

Familial Paroxysmal Ataxia

Episodic Ataxia 2

Ea-2

Episodic Ataxia Nystagmus-Associated

Hereditary Paroxysmal Cerebellopathy

Ataxia, Episodic, Type 2

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

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Episodic Ataxia Type 6

EA6

Episodic Ataxia 6

Ea-6

Ataxia, Episodic, Type 6

BRGDA9

Brugada Syndrome, Type 9

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

BNHS

Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy

Boucher-Neuhäuser Syndrome

Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism

Ataxia - Hypogonadism - Choroidal Dystrophy

Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism

Bns

Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome

Boucher Neuhauser Syndrome

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas

Spinocerebellar Ataxia Type 40

SCA40

Ataxia, Spinocerebellar, Type 40

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

Spinocerebellar Ataxia Type 14

SCA14

Ataxia, Spinocerebellar, Type 14

Arca

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

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

MC3DN2

Mitochondrial Complex Ii Deficiency, Nuclear Type 3

MC2DN3

Mitochondrial Complex 2 Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency, Nuclear 2

Chorea

Hereditary Chorea

Spinocerebellar Ataxia Type 10

SCA10

Spinocerebellar Ataxia-10

Ataxia, Spinocerebellar, Type 10

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

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

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

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

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

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

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

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Movement Disorders

Movement Disorder

Spax

Ataxia, Spastic

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

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1