Diseases |
Alias |
|
Spinocerebellar Ataxia 28 |
Spinocerebellar Ataxia Type 28
|
SCA28
|
Ataxia, Spinocerebellar, Type 28
|
|
|
Spastic Ataxia 5, Autosomal Recessive |
SPAX5
|
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
|
Afg3l2-Related Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
|
Autosomal Recessive Spastic Ataxia Type 5
|
Ataxia, Spastic, Type 5, Autosomal Recessive
|
|
|
Optic Atrophy 12 |
|
|
Spastic Ataxia 5 |
|
|
Cerebellar Disease |
Cerebellar Diseases
|
Cerebellar Dysfunction
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
Myoclonus |
|
|
Spasticity |
|
|
3-Methylglutaconic Aciduria, Type Iii |
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
|
|
|
Choreatic Disease |
|
|
Spastic Paraparesis |
|
|
Aceruloplasminemia |
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
|
|
|
Dystonia |
Dystonic Disease
|
Dystonic Disorder
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
Sensorineural Hearing Loss |
Sensory Hearing Loss
|
Sensorineural Deafness
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
Central Hearing Loss
|
High Frequency Deafness
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
Spastic Ataxia |
|
|
Autosomal Dominant Cerebellar Ataxia |
Spinocerebellar Ataxia
|
Adca
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
Spinocerebellar Ataxias
|
|
|
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
|
|
|
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
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
|
|
|
Hereditary Spastic Paraplegia |
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
|
|
|
Paraplegia |
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
Spinocerebellar Ataxia 21 |
Spinocerebellar Ataxia Type 21
|
SCA21
|
Ataxia, Spinocerebellar, Type 21
|
|
|
Spinocerebellar Ataxia 29 |
Spinocerebellar Ataxia Type 29
|
SCA29
|
Cnpca
|
Cerebellar Vermis Aplasia
|
Aplasia Of Cerebellar Vermis
|
Acv
|
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant
|
Spinocerebellar Ataxia 29, Congenital Nonprogressive
|
Congenital Nonprogressive Spinocerebellar Ataxia
|
Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia
|
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive
|
Familial Aplasia Of The Vermis
|
|
|
Spastic Paraplegia 46, Autosomal Recessive |
SPG46
|
Hereditary Spastic Paraplegia 46
|
Autosomal Recessive Spastic Paraplegia Type 46
|
Autosomal Recessive Spastic Paraplegia 46
|
Paraplegia, Spastic, Type 46, Autosomal Recessive
|
|
|
Codas Syndrome |
Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome
|
Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome
|
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome
|
Cerebrooculodentoauriculoskeletal Syndrome
|
CODASS
|
Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
|
|
|
Spinocerebellar Ataxia 18 |
Spinocerebellar Ataxia Type 18
|
SCA18
|
Smna
|
Sensorimotor Neuropathy With Ataxia, Autosomal Dominant
|
Sensorimotor Neuropathy With Ataxia Autosomal Dominant
|
|
|
Spinocerebellar Ataxia 15 |
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
|
|
|
Optic Atrophy 9 |
OPA9
|
Atrophy, Optic, Type 9
|
|
|
Behr Syndrome |
BEHRS
|
Abortive Cerebellar Ataxia
|
Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities
|
Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss
|
Obsolete: Behr Syndrome
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss
|
Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
|
|
|
Cerebellar Ataxia Type 48 |
|
|
Neuropathy |
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
Optic Atrophy 5 |
OPA5
|
Atrophy, Optic, Type 5
|
|
|
Spinocerebellar Ataxia, Autosomal Recessive 14 |
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
|
|
|
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
Dominant Optic Atrophy Plus Syndrome
|
DOA+
|
Adoa
|
Autosomal Dominant Optic Atrophy
|
Doa
|
Optic Atrophy Plus Syndrome
|
Dominant Optic Atrophy
|
Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy
|
Optic Atrophy, Dominant
|
3-Methylglutaconic Aciduria Type 3
|
Optic Atrophy, Autosomal Dominant
|
|
|
Oculomotor Apraxia |
|
|
Kearns-Sayre Syndrome |
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
|
|
|
Ptosis |
Blepharoptosis
|
Drooping Eyelid
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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
|
|
|
Cerebellar Ataxia Type 43 |
|
|
Spinocerebellar Ataxia 35 |
Spinocerebellar Ataxia Type 35
|
SCA35
|
Ataxia, Spinocerebellar, Type 35
|
|
|
Optic Atrophy 11 |
OPA11
|
Atrophy, Optic, Type 11
|
|
|
Optic Atrophy 7 With Or Without Auditory Neuropathy |
Optic Atrophy 7
|
OPA7
|
Autosomal Recessive Optic Atrophy, Opa7 Type
|
Optic Atrophy-7
|
Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
|
|
|
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
|
|
|
Hereditary Ataxia |
Sca
|
Spinocerebellar Ataxia
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Ocular Motility Disease |
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
Eye Movement Disorders
|
|
|
Cranial Nerve Disease |
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
Cranial Nerve Diseases
|
|
|
Perrault Syndrome |
Gonadal Dysgenesis, Xx Type, With Deafness
|
Ovarian Dysgenesis With Sensorineural Deafness
|
Gonadal Dysgenesis, Xx Type
|
Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
|
Xx Gonodal Dysgenesis-Deafness Syndrome
|
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
|
Gonadal Dysgenesis Xx Type Deafness
|
|
|
Progressive Myoclonus Epilepsy |
Pme
|
Progressive Myoclonic Epilepsy
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
Optic Nerve Disease |
Optic Neuropathy
|
Disorder Of The Second Nerve
|
Optic Nerve Disorder
|
Optic Nerve
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
Early Myoclonic Encephalopathy |
Myoclonic Epilepsy
|
Myoclonic Seizure
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
Leber Hereditary Optic Neuropathy, Modifier Of |
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
LHON
|
Leber'S Hereditary Optic Neuropathy
|
Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
LOAM
|
Loas
|
Leber'S Disease
|
Leber'S Optic Neuropathy
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
Leber Hereditary Optic Atrophy
|
Loa
|
Optic Atrophy Leber Type
|
Leber Hereditary Optic Neuropathy, Modifier
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
|
Leber Plus Disease |
Leber Congenital Amaurosis
|
Lca
|
Leber'S Amaurosis
|
Leber'S Disease
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
Congenital Retinal Blindness
|
Crb
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
Optic Atrophy, Hereditary, Leber
|
|
|
Mitochondrial Myopathy |
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
Myopathies In Mitochondrial Disorders
|
|
|