| Diseases |
Alias |
|
| Spastic Paraplegia 4, Autosomal Dominant |
|
SPG4
|
Hereditary Spastic Paraplegia 4
|
|
Fsp2
|
Autosomal Dominant Spastic Paraplegia Type 4
|
|
Familial Spastic Paraplegia, Autosomal Dominant, 2
|
Autosomal Dominant Spastic Paraplegia 4
|
|
Familial Spastic Paraplegia Autosomal Dominant 2
|
Paraplegia, Spastic, Autosomal Dominant, Type 4
|
|
|
| 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
|
|
|
| Spastic Paraparesis |
|
|
| Spasticity |
|
|
| Spastic Diplegia |
|
Diplegic Infantile Cerebral Palsy
|
Little'S Disease
|
|
Cerebral Palsy
|
Cerebral Spastic Infantile Paralysis
|
|
Infantile Diplegic Cerebral Palsy
|
Infantile Spastic Cerebral Palsy
|
|
Littles Disease
|
Spastic Cerebral Palsy
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Spastic Paraplegia 4 |
|
Spg4
|
Spastic Paraplegia Type 4
|
|
Spast-Hsp
|
Autosomal Dominant Spastic Paraplegia 4
|
|
Fsp2
|
Familial Spastic Paraplegia Autosomal Dominant 2
|
|
Spastic Paraplegia 4, Autosomal Dominant
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| Spastic Paraplegia 3, Autosomal Dominant |
|
SPG3A
|
Strumpell Disease
|
|
Hereditary Spastic Paraplegia 3a
|
SPG3
|
|
Fsp1
|
Autosomal Dominant Spastic Paraplegia Type 3
|
|
Familial Spastic Paraplegia, Autosomal Dominant, 1
|
Spastic Paraplegia 3a, Autosomal Dominant
|
|
Autosomal Dominant Familial Spastic Paraplegia 1
|
Autosomal Dominant Spastic Paraplegia 3
|
|
Spastic Paraplegia 3
|
Familial Spastic Paraplegia Autosomal Dominant 1
|
|
Strumpell-Lorrain Syndrome
|
Paraplegia, Spastic, Autosomal Dominant, Type 3a
|
|
Spastic Paraplegia, Hereditary
|
|
|
| Masa Syndrome |
|
L1 Syndrome
|
Crash Syndrome
|
|
X-Linked Hydrocephalus Syndrome
|
SPG1
|
|
Gareis-Mason Syndrome
|
Spastic Paraplegia 1, X-Linked
|
|
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
|
L1cam Syndrome
|
|
Spastic Paraplegia 1
|
Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
|
|
Clasped Thumb And Mental Retardation
|
Thumb, Congenital Clasped, With Mental Retardation
|
|
Adducted Thumb With Mental Retardation
|
Hereditary Spastic Paraplegia 1
|
|
X-Linked Complicated Hereditary Spastic Paraplegia Type 1
|
X-Linked Corpus Callosum Agenesis
|
|
X-Linked Spastic Paraplegia 1
|
L1 Disease
|
|
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis
|
Adducted Thumb With Intellectual Disability
|
|
Clasped Thumb And Intellectual Disability
|
Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
|
|
Thumb Congenital Clasped With Intellectual Disability
|
X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
|
|
Adducted Thumbs-Mental Retardation Syndrome
|
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
|
|
Mental Retardation-Clasped Thumb Syndrome
|
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
|
|
Spastic Paraplegia Type 1, X-Linked
|
MASA
|
|
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus
|
Crash
|
|
Masa Syndrome
|
|
|
| Spastic Paraplegia 13, Autosomal Dominant |
|
SPG13
|
Hereditary Spastic Paraplegia 13
|
|
Autosomal Dominant Spastic Paraplegia 13
|
Spastic Paraplegia 13
|
|
Autosomal Dominant Spastic Paraplegia Type 13
|
Spastic Paraplegia-13
|
|
Paraplegia, Spastic, Type 13
|
|
|
| Spastic Paraplegia 42, Autosomal Dominant |
|
SPG42
|
Hereditary Spastic Paraplegia 42
|
|
Autosomal Dominant Spastic Paraplegia Type 42
|
Autosomal Dominant Spastic Paraplegia 42
|
|
Paraplegia, Spastic, Type 42, Autosomal Dominant
|
|
|
| Spastic Paraplegia 43, Autosomal Recessive |
|
SPG43
|
Hereditary Spastic Paraplegia 43
|
|
Autosomal Recessive Spastic Paraplegia Type 43
|
Autosomal Recessive Spastic Paraplegia 43
|
|
Paraplegia, Spastic, Type 43, Autosomal Recessive
|
|
|
| Dementia |
|
Dementias
|
Presenile Dementia
|
|
Alzheimer Type Dementia
|
Alzheimer Sclerosis
|
|
Alzheimer Disease Dementia
|
Alzheimer Dementia
|
|
Primary Degenerative Alzheimer Type Dementia
|
End Stage Alzheimer'S Dementia
|
|
Alzheimer'S Type Atypical Dementia
|
Alzheimer Type Presenile Dementia
|
|
Early Onset Alzheimer Dementia
|
Dementia In Alzheimer Disease Type 2
|
|
Dementia In Alzheimer Disease With Early Onset
|
Early Onset Alzheimer Type Dementia, Uncomplicated
|
|
Primary Degenerative Alzheimer Type Dementia, Early Onset
|
Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
|
|
Alzheimer Disease Dementia With Early Onset
|
Presenile Sclerosis
|
|
Presenile Brain Sclerosis
|
Presenile Alzheimer Brain Sclerosis
|
|
Late Onset Alzheimer Dementia
|
Dementia In Alzheimer Disease Type 1
|
|
Dementia In Alzheimer Disease With Late Onset
|
Primary Degenerative Alzheimer Type Dementia, Late Onset
|
|
Sdat - [Senile Dementia, Alzheimer Type]
|
Alzheimer Disease Dementia With Late Onset
|
|
Late Onset Alzheimer Brain Sclerosis
|
Senile Alzheimer Brain Disease
|
|
Senile Alzheimer Brain Sclerosis
|
Senile Primary Degenerative Alzheimer Type Dementia
|
|
Senile Dementia Of The Alzheimer Type
|
Arteriosclerotic Dementia
|
|
Strategic-Infarct Dementia
|
Post Stroke Dementia
|
|
Vascular Cognitive Impairment
|
Vascular Dementia
|
|
Dementia Of The Lewy Body Type
|
Dementia With Lewy Bodies
|
|
Sdlt - [Senile Dementia Of The Lewy Body Type]
|
Senile Dementia Of The Lewy Body Type
|
|
Alcohol-Related Dementia
|
Alcoholic Dementia Nos
|
|
Alcohol-Induced Dementia
|
Alcoholic Brain Syndrome
|
|
Chronic Alcoholic Brain Syndrome
|
Alcohol Dementia
|
|
Late Onset Alcoholic Psychosis
|
Residual And Late-Onset Alcohol-Induced Psychotic Disorder
|
|
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder
|
Late-Onset Psychoactive Substance-Induced Psychotic Disorder
|
|
Inhalant Dementia
|
Volatile Solvents Dementia
|
|
Dementia In Paralysis Agitans
|
Pdd - [Parkinson Disease Dementia]
|
|
Dementia Syndrome Of Parkinson Disease
|
Dementia In Parkinson Disease
|
|
Parkinson Related Dementia
|
Dementia In Huntington Chorea
|
|
Hiv - [Human Immunodeficiency Virus] Dementia
|
Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
|
|
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex
|
Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
|
|
Aids Related Dementia
|
Dementia Due To Niacin Deficiency
|
|
|
| Spastic Paraplegia 20, Autosomal Recessive |
|
Troyer Syndrome
|
SPG20
|
|
Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting
|
Spastic Paraplegia, Autosomal Recessive, Troyer Type
|
|
Autosomal Recessive Spastic Paraplegia Type 20
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
|
Spastic Paraplegia 20
|
Cross-Mckusick Syndrome
|
|
Autosomal Recessive Spastic Paraplegia 20
|
Autosomal Recessive Spastic Paraplegia Troyer Type
|
|
Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting
|
Hereditary Spastic Paraplegia 20
|
|
Spastic Paraplegia Type 20
|
Hereditary Spastic Paraplegia
|
|
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome
|
Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
|
|
Spastic Paraplegia Autosomal Recessive Troyer Type
|
Trs
|
|
Spastic Paraplegia Hereditary Autosomal Recessive
|
Spastic Paraplegia, Hereditary
|
|
|
| Spastic Paraplegia 78, Autosomal Recessive |
|
SPG78
|
Autosomal Recessive Spastic Paraplegia Type 78
|
|
Hereditary Spastic Paraplegia 78
|
Spastic Paraplegia 78 Autosomal Recessive
|
|
Doid:0112348
|
|
|
| Spastic Paraplegia 2, X-Linked |
|
SPG2
|
Hereditary Spastic Paraplegia 2
|
|
Sppx2
|
Spastic Paraplegia Type 2
|
|
Spastic Paraplegia 2
|
Hereditary X-Linked Recessive Spastic Paraplegia
|
|
X-Linked Spastic Paraplegia 2
|
X Linked Recessive Hereditary Spastic Paraplegia
|
|
Spastic Gait Type 2
|
Spastic Paraparesis Type 2
|
|
X-Linked Spastic Paraplegia Type 2
|
Spastic Paraplegia Type 2, X-Linked
|
|
Spastic Paraplegia-2
|
Paraplegia, Spastic, Type 2
|
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
SPG14
|
Hereditary Spastic Paraplegia 14
|
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
|
Spastic Paraplegia 14
|
|
|
| Hereditary Spastic Paraplegia 30 |
|
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
|
Autosomal Recessive Spastic Paraplegia 30
|
|
|
| Spastic Paraplegia 79, Autosomal Recessive |
|
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome
|
SPG79
|
|
Neurodegeneration With Optic Atrophy, Childhood-Onset
|
Ndgoa
|
|
Hereditary Spastic Paraplegia 79
|
Spastic Paraplegia 79 Autosomal Recessive
|
|
Doid:0112344
|
Neurodegeneration, With Optic Atrophy, Childhood-Onset
|
|
|
| Spastic Paraplegia 41, Autosomal Dominant |
|
SPG41
|
Hereditary Spastic Paraplegia 41
|
|
Autosomal Dominant Spastic Paraplegia Type 41
|
Autosomal Dominant Spastic Paraplegia 41
|
|
|
| Spastic Paraplegia 31, Autosomal Dominant |
|
SPG31
|
Hereditary Spastic Paraplegia 31
|
|
Spastic Paraplegia 31
|
Autosomal Dominant Spastic Paraplegia 31
|
|
Autosomal Dominant Spastic Paraplegia Type 31
|
Spastic Paraplegia Type 31
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 31
|
|
|
| Spastic Paraplegia 80, Autosomal Dominant |
|
SPG80
|
Hereditary Spastic Paraplegia 80
|
|
Spastic Paraplegia 80 Autosomal Dominant
|
Doid:0112341
|
|
|
| Spastic Paraplegia 15, Autosomal Recessive |
|
SPG15
|
Kjellin Syndrome
|
|
Hereditary Spastic Paraplegia 15
|
Spastic Paraplegia And Retinal Degeneration
|
|
Autosomal Recessive Spastic Paraplegia Type 15
|
Hereditary Spastic Paraparesis Type 15
|
|
Spastic Paraplegia-Retinal Degeneration Syndrome
|
Autosomal Recessive Spastic Paraplegia 15
|
|
|
| Spastic Paraplegia 55, Autosomal Recessive |
|
SPG55
|
Hereditary Spastic Paraplegia 55
|
|
Autosomal Recessive Spastic Paraplegia Type 55
|
Autosomal Recessive Spastic Paraplegia 55
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 55
|
|
|
| Spastic Paraplegia 34, X-Linked |
|
SPG34
|
Hereditary Spastic Paraplegia 34
|
|
X-Linked Spastic Paraplegia Type 34
|
X-Linked Spastic Paraplegia 34
|
|
|
| Spastic Paraplegia 48, Autosomal Recessive |
|
SPG48
|
Hereditary Spastic Paraplegia 48
|
|
Autosomal Recessive Spastic Paraplegia Type 48
|
Autosomal Recessive Spastic Paraplegia 48
|
|
Paraplegia, Spastic, Type 48, Autosomal Recessive
|
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
|
Hereditary Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
|
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
|
| Spastic Paraplegia 11, Autosomal Recessive |
|
SPG11
|
Hereditary Spastic Paraplegia 11
|
|
Hsp-Tcc
|
Autosomal Recessive Spastic Paraplegia Type 11
|
|
Nakamura-Osame Syndrome
|
Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome
|
|
Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum
|
Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum
|
|
Autosomal Recessive Spastic Paraplegia 11
|
Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum
|
|
Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum
|
Arhsp-Tcc
|
|
Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum
|
Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum
|
|
Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum
|
Paraplegia, Spastic, Autosomal Recessive, Type 11
|
|
Nakamura Osame Syndrome
|
|
|
| Spastic Paraplegia 73, Autosomal Dominant |
|
SPG73
|
Hereditary Spastic Paraplegia 73
|
|
Autosomal Dominant Spastic Paraplegia Type 73
|
Autosomal Dominant Spastic Paraplegia 73
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 73
|
|
|
| Spastic Paraplegia 54, Autosomal Recessive |
|
SPG54
|
Hereditary Spastic Paraplegia 54
|
|
Autosomal Recessive Spastic Paraplegia Type 54
|
Autosomal Recessive Spastic Paraplegia 54
|
|
Paraplegia, Spastic, Type 54, Autosomal Recessive
|
|
|
| Spastic Paraplegia 12, Autosomal Dominant |
|
SPG12
|
Hereditary Spastic Paraplegia 12
|
|
Autosomal Dominant Spastic Paraplegia Type 12
|
Autosomal Dominant Spastic Paraplegia 12
|
|
Spastic Paraplegia 12
|
Spastic Paraplegia-12
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 12
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Hereditary Spastic Paraplegia 35 |
|
Autosomal Recessive Spastic Paraplegia Type 35
|
Spg35
|
|
Autosomal Recessive Spastic Paraplegia 35
|
Fahn
|
|
Fatty Acid Hydroxylase-Associated Neurodegeneration
|
Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
|
|
|
| Spastic Paraplegia 26, Autosomal Recessive |
|
SPG26
|
Hereditary Spastic Paraplegia 26
|
|
Autosomal Recessive Spastic Paraplegia Type 26
|
Gm2 Synthase Deficiency
|
|
Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia 26
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 26
|
|
|
| Spastic Paraplegia 61, Autosomal Recessive |
|
SPG61
|
Hereditary Spastic Paraplegia 61
|
|
Autosomal Recessive Spastic Paraplegia Type 61
|
Autosomal Recessive Spastic Paraplegia 61
|
|
Paraplegia, Spastic, Type 61, Autosomal Recessive
|
|
|
| Spastic Paraplegia 18, Autosomal Recessive |
|
SPG18
|
Idmdc
|
|
Hereditary Spastic Paraplegia 18
|
Intellectual Disability, Motor Dysfunction, And Joint Contractures
|
|
Autosomal Recessive Spastic Paraplegia Type 18
|
Autosomal Recessive Spastic Paraplegia 18
|
|
Intellectual Disability, Motor Dysfunction And Joint Contractures
|
Spastic Paraplegia 18
|
|
Intellectual Disability Motor Dysfunction And Joint Contractures
|
Paraplegia, Spastic, Type 18
|
|
|
| Spastic Paraplegia 52, Autosomal Recessive |
|
SPG52
|
Hereditary Spastic Paraplegia 52
|
|
Cpsq6
|
Cerebral Palsy, Spastic Quadriplegic, 6, Formerly
|
|
Cpsq6, Formerly
|
Autosomal Recessive Spastic Paraplegia 52
|
|
Spastic Quadriplegic Cerebral Palsy 6
|
Cerebral Palsy, Spastic Quadriplegic 6
|
|
|
| Spastic Paraplegia 8, Autosomal Dominant |
|
SPG8
|
Hereditary Spastic Paraplegia 8
|
|
Autosomal Dominant Spastic Paraplegia Type 8
|
Autosomal Dominant Spastic Paraplegia 8
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 8
|
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
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
|
|
|
| Spastic Paraplegia 19, Autosomal Dominant |
|
SPG19
|
Hereditary Spastic Paraplegia 19
|
|
Autosomal Dominant Spastic Paraplegia Type 19
|
Autosomal Dominant Spastic Paraplegia 19
|
|
Spastic Paraplegia 19
|
Spastic Paraplegia-19
|
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
Silver Syndrome
|
SPG17
|
|
Silver Spastic Paraplegia Syndrome
|
Spastic Paraplegia With Amyotrophy Of Hands And Feet
|
|
Hereditary Spastic Paraplegia 17
|
Autosomal Dominant Spastic Paraplegia Type 17
|
|
Spastic Paraplegia 17
|
Spastic Paraplegia-Amyotrophy Of Hands And Feet
|
|
Autosomal Dominant Spastic Paraplegia 17
|
Dhmn5b
|
|
Distal Hereditary Motor Neuropathy Type 5b
|
Paraplegia, Spastic, Autosomal Dominant, Type 17
|
|
Russell-Silver Syndrome
|
Neuronopathy, Distal Hereditary Motor, Type Vb
|
|
|
| Spastic Paraplegia 53, Autosomal Recessive |
|
SPG53
|
Hereditary Spastic Paraplegia 53
|
|
Autosomal Recessive Spastic Paraplegia Type 53
|
Autosomal Recessive Spastic Paraplegia 53
|
|
Paraplegia, Spastic, Type 53, Autosomal Recessive
|
|
|
| Spastic Paraplegia 57, Autosomal Recessive |
|
SPG57
|
Hereditary Spastic Paraplegia 57
|
|
Autosomal Recessive Spastic Paraplegia Type 57
|
Autosomal Recessive Spastic Paraplegia 57
|
|
Spastic Paraplegia Due To Partial Tfg Deficiency
|
Paraplegia, Spastic, Type 57, Autosomal Recessive
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
|
Young Adult-Onset Distal Hereditary Motor Neuropathy
|
Neuronopathy, Distal Hereditary Motor, Type V
|
|
Distal Hereditary Motor Neuronopathy Type 5
|
Dhmn5
|
|
Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
|
Hmn5
|
Dhmn5a
|
|
Dhmn Va
|
Dsmava
|
|
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
|
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
|
Young Adult-Onset Dhmn
|
Dhmn-V
|
|
Hmn V
|
Neuronopathy, Distal Hereditary Motor, Type 5a
|
|
Hmn 5a
|
Neuropathy, Distal Hereditary Motor, Type Va
|
|
Spinal Muscular Atrophy, Distal, Type Va
|
Spinal Muscular Atrophy, Distal, Type V
|
|
Distal Spinal Muscular Atrophy Type V
|
Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
|
Distal Hereditary Motor Neuronopathy Type 5a
|
Distal Hmn Va
|
|
Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
|
Distal Hereditary Motor Neuronopathy, Type V
|
Distal Spinal Muscular Atrophy, Type V
|
|
Spinal Muscular Atrophy, Distal Type V
|
Distal Hereditary Motor Neuropathy Type 5
|
|
Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
|
Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
|
Dsma-V
|
Hmn Va
|
|
Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
|
Spinal Muscular Atrophy Distal With Upper Limb Predominance
|
Neuropathy, Distal Hereditary Motor, Type V
|
|
Neuropathy, Motor, Distal, Hereditary, Type Va
|
|
|
| Hereditary Spastic Paraplegia 49 |
|
Autosomal Recessive Spastic Paraplegia Type 49
|
Autosomal Recessive Spastic Paraplegia 49
|
|
Spg49
|
Paraplegia, Spastic, Type 49, Autosomal Recessive
|
|
|
| Spastic Paraplegia 75, Autosomal Recessive |
|
SPG75
|
Hereditary Spastic Paraplegia 75
|
|
Autosomal Recessive Spastic Paraplegia Type 75
|
Autosomal Recessive Spastic Paraplegia 75
|
|
|
| Spastic Paraplegia 6, Autosomal Dominant |
|
SPG6
|
Fsp3
|
|
Hereditary Spastic Paraplegia 6
|
Autosomal Dominant Spastic Paraplegia Type 6
|
|
Spastic Paraplegia 6
|
Familial Spastic Paraplegia Autosomal Dominant 3
|
|
Familial Spastic Paraplegia, Autosomal Dominant, 3
|
Autosomal Dominant Familial Spastic Paraplegia Type 3
|
|
Autosomal Dominant Spastic Paraplegia 6
|
Spastic Paraplegia-6
|
|
Paraplegia, Spastic, Type 6
|
|
|
| Spastic Paraplegia 62, Autosomal Recessive |
|
SPG62
|
Hereditary Spastic Paraplegia 62
|
|
Autosomal Recessive Spastic Paraplegia Type 62
|
Spastic Paraplegia 62
|
|
Autosomal Recessive Spastic Paraplegia 62
|
Paraplegia, Spastic, Type 62
|
|
|
| Neuropathy, Hereditary Sensory, Type Id |
|
HSN1D
|
Hereditary Sensory Neuropathy Type 1d
|
|
Neuropathy, Hereditary Sensory, Type 1d
|
Neuropathy, Hereditary Sensory, 1d
|
|
Hereditary Sensory Neuropathy Type Id
|
Neuropathy, Sensory, Hereditary, Type Id
|
|
|
| Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency |
|
Congenital Myasthenic Syndrome 4c
|
CMS4C
|
|
Cms Id
|
Cms1d
|
|
Congenital Myasthenic Syndrome Type Id
|
Fim1
|
|
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
|
Myasthenic Syndrome, Congenital, Type Id
|
|
Cms1d, Formerly
|
Cms Id, Formerly
|
|
Myasthenia, Familial Infantile, 1, Formerly
|
Fim1, Formerly
|
|
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency
|
Familial Infantile Myasthenia 1
|
|
Cms1e
|
Cms-Achrd
|
|
Cms Ie
|
Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
|
|
Congenital Myasthenic Syndrome Type 1d
|
Congenital Myasthenic Syndrome Type 1e
|
|
Congenital Myasthenic Syndrome Type Ie
|
Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenia, Familial Infantile, 1
|
Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenic Syndrome, Congenital, Ie
|
|
|
| Spastic Paraplegia 45, Autosomal Recessive |
|
SPG45
|
Hereditary Spastic Paraplegia 45
|
|
Autosomal Recessive Spastic Paraplegia Type 45
|
Autosomal Recessive Spastic Paraplegia Type 65
|
|
Spg65
|
Autosomal Recessive Spastic Paraplegia 45
|
|
Paraplegia, Spastic, Type 45, Autosomal Recessive
|
|
|
| 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
|
|
|
| Motor Peripheral Neuropathy |
|
Motor Neuritis
|
Peripheral Motor Neuropathy
|
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Spastic Cerebral Palsy |
|
Palsy, Cerebral, Spastic
|
Infantile Hemiplegia Nos
|
|
Postnatal Infantile Hemiplegia Nos
|
Congenital Spastic Hemiplegia
|
|
Spastic Hemiplegic Cerebral Palsy
|
Congenital Hemiplegia Nos
|
|
Hemiplegic Cerebral Palsy
|
Hemiplegic Infantile Cerebral Palsy
|
|
|
| Spastic Paraplegia 9a, Autosomal Dominant |
|
Hereditary Spastic Paraplegia 9a
|
SPG9A
|
|
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
|
Ad-Spg9a
|
|
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome
|
Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
|
|
Autosomal Dominant Complex Spastic Paraplegia Type 9a
|
Autosomal Dominant Spastic Paraplegia 9a
|
|
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
|
|
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux
|
Autosomal Dominant Spastic Paraplegia Type 9a
|
|
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
|
|
Spastic Paraplegia 9, Autosomal Dominant
|
|
|
| Spastic Paraplegia 50, Autosomal Recessive |
|
Hereditary Spastic Paraplegia 50
|
SPG50
|
|
Ap-4 Deficiency Syndrome
|
Ap-4-Associated Hereditary Spastic Paraplegia
|
|
Adaptor Protein Complex 4 Deficiency
|
Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
|
|
Cpsq3, Formerly
|
Autosomal Recessive Spastic Paraplegia 50
|
|
Cpsq3
|
Spastic Quadriplegic Cerebral Palsy 3
|
|
Ap-4 Deficiency
|
Ap-4-Associated Hsp
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 50
|
Spastic Paraplegia-50, Autosomal Recessive
|
|
|
| Pontocerebellar Hypoplasia, Type 2e |
|
Pontocerebellar Hypoplasia Type 2
|
Pontocerebellar Hypoplasia Type 2e
|
|
Pch2
|
PCH2E
|
|
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy
|
Pontocerebellar Hypoplasia 2e
|
|
Pcca2
|
Progressive Cerebello-Cerebral Atrophy Type 2
|
|
Doid:0112328
|
Hypoplasia, Pontocerebellar, Type 2e
|
|
Pontocerebellar Hypoplasia, Type 2d
|
Pontocerebellar Hypoplasia Type 2a
|
|
|
| Neurogenic Bowel |
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| Spastic Ataxia |
|
|
| Peroxisomal Biogenesis Disorder |
|
Zellweger Spectrum Disorders
|
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
|
|
Disorders Of Peroxisome Biogenesis
|
Zellweger Spectrum
|
|
Zellweger Syndrome Spectrum
|
Peroxisomal Biogenesis Disorders
|
|
Pbd, Zss
|
Pbd-Zsd
|
|
Pbd-Zss
|
Pbd-Zellweger Spectrum Disorder
|
|
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum
|
Peroxisome Biogenesis Disorder
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorders
|
|
Zellweger Spectrum Disorder
|
Hyperpipecolic Acidaemia
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
