SPTBN2 - spectrin beta, non-erythrocytic 2 Gene

Spinocerebellar Ataxia Type 5

SCA5

Spinocerebellar Ataxia-5

Ataxia, Spinocerebellar, Type 5

Autosomal Recessive Spinocerebellar Ataxia 14

SCAR14

Sparca1

Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia

Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur

Autosomal Recessive Spinocerebellar Ataxia Type 14

Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome

Sparca

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1

Spinocerebellar Ataxia, Autosomal Recessive, 14

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1

Ataxia, Spinocerebellar, Autosomal Recessive, Type 14

Typhus

Typhus Fever

Epidemic Louse-Borne Typhus Fever Due To Rickettsia Prowazekii

Murine Typhus

Classical Typhus

Endemic Flea-Borne Typhus

Endemic Typhus Fever

Epidemic Louse-Borne Typhus

Famine Fever

Flea-Borne Typhus

Jail Fever

Louse-Borne Typhus

Mexican Typhus

Shop Typhus

Urban Typhus

Brill-Zinsser Disease

Endemic Typhus

Sylvatic Typhus

Epidemic Typhus

European Typhus

Exanthematic Typhus Fever

Exanthematous Typhus

Flea Typhus

Flea-Borne Rickettsiosis

Hospital Fever

Louse-Borne [Epidemic] Typhus

Louse-Borne Rickettsiosis

Moscow Typhus

Murine [Endemic] Typhus

Petechial Fever

Prison Fever

Rat Flea Typhus

Ship Fever

Typhus Exanthematique

Typhus, Endemic Flea-Borne

Typhus, Epidemic Louse-Borne

Typhus Group Rickettsial Disease

Relapsing Fever

Typhus Fever Nos

Typhus Nos

Epidemic Typhus Fever

Louse-Borne Typhus Fever

Classical Typhus Fever

Louse-Borne Tabardillo

Epidemic Typhus Fever Due To Rickettsia Prowazekii

Endemic Murine Typhus

Flea-Borne Typhus Fever

Murine Endemic Flea Typhus

Rat Typhus

Typhus Due To Rickettsia Typhi

Flea-Borne Tabardillo

Rickettsia Typhi Rickettsiosis

Mexican Fever

Murine Flea-Borne Typhus

Mooser Bodies

Tsutsugamushi Fever

Kedani Fever

Mite-Borne Typhus

Mite-Borne Typhus Due To Rickettsia Tsutsugamushi

Scrub Typhus

Tsutsugamushi

Tsutsugamushi Disease

Scrub Mite-Borne Typhus

Sumatran Mite Fever

Japanese River Fever

Kedani Typhus

Rickettsia Tsutsugamushi Rickettsiosis

Sumatran Mite Typhus

Tropical Typhus

Japanese Typhus

Ataxic Cerebral Palsy

Acp

Hypotonic Cerebral Palsy

Cerebral Palsy Ataxic

Cerebral Palsy, Atonic

Congenital Cerebral Palsy With Ataxia

Ataxic Cerebral Paralysis

Ataxia With Cerebral Palsy

Cerebral Infantile Diataxia

Brazillian Spotted

Choix

Exanthematic Typhus Of Sao Paulo

Fiebre Maculosa

Fiebre Manchada

Sao Paulo Typhus

So Paulo Fever

Tick Typhus

Tobia Fever

Rmsf

Typhus, Tick

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Recrudescent Typhus

Brill Disease

Brill Zinsser Disease

Brill'S Disease

Latent Typhus

Sporadic Typhus

Typhus, Epidemic Louse-Borne

Recrudescent Typhus Due To Rickettsia Prowazekii

Recrudescent Typhus Fever

Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii

Recrudescent Brill Disease

Recrudescent Typhus Fever Due To Rickettsia Prowazekii

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

Murine Typhus

Cat Flea Rickettsiosis

Fleaborne Typhus

Rat-Flea Typhus

Rickettsia Felis Spotted Fever

Shop Typhus

Toulon Typhus

Urban Typhus

Urban Typhus Of Malaya

Flea-Borne Typhus

Endemic Flea-Borne Typhus

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

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

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Spinocerebellar Ataxia Type 20

SCA20

Spinocerebellar Ataxia With Dysphonia

Spinocerebellar Ataxia With Spasmodic Cough

Chromosome 11q12 Duplication Syndrome, 260-Kb

Chromosome 11q12 Duplication Syndrome 260-Kb

Episodic Ataxia Type 6

EA6

Episodic Ataxia 6

Ea-6

Ataxia, Episodic, Type 6

Sca48

Rickettsia Africae Spotted Fever

South African Tick-Bite Fever

African Tick Bite Fever

Epileptic Encephalopathy, Early Infantile, 5

DEE5

Eiee5

Developmental And Epileptic Encephalopathy, 5

Early Infantile Epileptic Encephalopathy 5

Encephalopathy, Epileptic, Early Infantile, Type 5

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

SCA15

Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia Type 16

Sca16

Spinocerebellar Ataxia Type 15/16

Spinocerebellar Ataxia 16, Formerly

Sca16, Formerly

Spinocerebellar Ataxia 16

Sca15/16

Ataxia, Spinocerebellar, Type 15

PEOA1

Autosomal Dominant Progressive External Ophthalmoplegia 1

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia, Autosomal Dominant 1

Cpeo

Graefe Disease

Mitochondrial Ocular Myopathy

Ocular Myopathy Of Von Graefe-Fuchs

Progressive External Ophthalmoplegia Autosomal Dominant

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1

Kearns-Sayre Syndrome

SPG41

Hereditary Spastic Paraplegia 41

Autosomal Dominant Spastic Paraplegia Type 41

Autosomal Dominant Spastic Paraplegia 41

Spotted Fevers

Spotted Fever Group Rickettsial Disease

Tick-Borne Rickettsioses

Tick-Borne Typhus Nos

Rocky Mountain Spotted Fever

Sao Paulo Fever

Sao Paulo Typhus

Lone Star Spotted Fever

Colombian Spotted Fever

American Spotted Fever

Tick Typhus Due To Rickettsia Rickettsii

Rocky Mountain Tick Fever

Boutonneuse Fever

Mediterranean Tick Fever

Fièvre Boutonneuse

Mediterranean Spotted Fever

Tick Typhus Due To Rickettsia Conorii

African Tick Typhus

Indian Tick Typhus

Kenya Tick Typhus

North Asian Tick Fever

Siberian Tick Typhus

Tick Typhus Due To Rickettsia Siberica

North Asian Spotted Fever

Queensland Tick Typhus

Queensland Fever

Mediterranean Spotted Fever

African Tick Typhus

Boutonneuse Disease

Conor And Bruch'S Disease

Kenya Fever

Kenya Tick Typhus

Kenyan Tick Typhus

Marseilles Fever

Mediterranean Tick Fever

Rickettsia Conorii Spotted Fever

South African Tick-Bite Fever

African Tick Bite Fever

Australian Tick Typhus

North Queensland Tick Typhus

Rickettsia Australis Spotted Fever

Spinocerebellar Ataxia Type 13

SCA13

Autosomal Dominant Cerebellar Ataxia With Intellectual Disability

Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability

Spinocerebellar Ataxia-13

Ataxia, Spinocerebellar, Type 13

OPA9

Atrophy, Optic, Type 9

Autosomal Recessive Spinocerebellar Ataxia 17

SCAR17

Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 17

Spinocerebellar Ataxia, Autosomal Recessive, 17

Ataxia, Spinocerebellar, Autosomal Recessive, Type 17

Sca47

Israeli Spotted Fever

Sca43

Lymphedema, Microcephaly And Chorioretinopathy Syndrome

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability

MCLMR

Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome

Mlcrd Syndrome

Cdmmr Syndrome

Lymphedema And Retinal Folds With Microcephaly And Microphthalmos

Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome

Microcephaly Lymphedema Chorioretinal Dysplasia

Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant

Lymphedema, Microcephaly, Chorioretinopathy Syndrome

Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos

Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome

Microcephaly-Lymphedema-Chorioretinopathy Syndrome

Mlcrd

Lymphedema Microcephaly Chorioretinopathy Syndrome

Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome

Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability

Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

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

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

SPG8

Hereditary Spastic Paraplegia 8

Autosomal Dominant Spastic Paraplegia Type 8

Autosomal Dominant Spastic Paraplegia 8

Paraplegia, Spastic, Autosomal Dominant, Type 8

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Thomas Syndrome

Olivopontocerebellar Atrophies

Dejerine-Thomas Syndrome

Thomas' Syndrome

Wadia-Swami Syndrome

Opca

Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

Spinocerebellar Ataxia Type 2

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

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

Spinocerebellar Ataxia Type 23

SCA23

Ataxia, Spinocerebellar, Type 23

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

OPA10

Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures

Optic Atrophy 10

Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

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

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6

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

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

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

Arca

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Spax

Ataxia, Spastic

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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