| Diseases |
Alias |
|
| 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
|
|
|
| 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
|
|
|
| Spastic Paraplegia 3a |
|
Spg3a
|
Atl1-Hsp
|
|
Spastic Paraplegia Type 3a
|
Spastic Paraplegia 3
|
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
|
| 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
|
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hereditary Sensory And Autonomic Neuropathy Type I
|
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
|
|
Hsan1e
|
Hsan1
|
|
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy
|
Hsn1e
|
|
Hsnie
|
Hereditary Sensory Neuropathy Type Ie
|
|
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome
|
Hereditary Sensory And Autonomic Neuropathy Type Ie
|
|
Hereditary Sensory And Autonomic Neuropathy Type 1e
|
Hereditary Sensory Neuropathy With Hearing Loss And Dementia
|
|
Dnmt1-Complex Disorder
|
Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
|
|
Hsn Ie
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
SPG14
|
Hereditary Spastic Paraplegia 14
|
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
|
Spastic Paraplegia 14
|
|
|
| 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 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 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 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
|
|
|
| Retinitis Pigmentosa 3 |
|
RP3
|
Retinitis Pigmentosa 15
|
|
Rp15
|
Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women
|
|
Cone-Rod Degeneration, X-Linked
|
Retinitis Pigmentosa Type 15
|
|
X-Linked Cone-Rod Degeneration
|
X-Linked Retinitis Pigmentosa 3
|
|
Xlrp3
|
Xlrp-3
|
|
Retinitis Pigmentosa-3
|
Retinitis Pigmentosa, Type 3
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Hereditary Spastic Paraplegia 30 |
|
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
|
Autosomal Recessive Spastic Paraplegia 30
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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 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 36, Autosomal Dominant |
|
SPG36
|
Hereditary Spastic Paraplegia 36
|
|
Autosomal Dominant Spastic Paraplegia Type 36
|
Autosomal Dominant Spastic Paraplegia 36
|
|
|
| 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
|
|
|
| Hereditary Spastic Paraplegia 49 |
|
Autosomal Recessive Spastic Paraplegia Type 49
|
Autosomal Recessive Spastic Paraplegia 49
|
|
Spg49
|
Paraplegia, Spastic, Type 49, Autosomal Recessive
|
|
|
| Hereditary Sensory Neuropathy |
|
Hereditary Sensory And Autonomic Neuropathy
|
Hereditary Sensory And Autonomic Neuropathies
|
|
Familial Dysautonomia, Type Ii
|
Hsan
|
|
Sensory Neuropathy Hereditary
|
Neuropathy, Sensory And Autonomic, Hereditary
|
|
Neuropathy, Sensory, Hereditary
|
Sensory Neuropathy, Hereditary
|
|
Charcot-Marie-Tooth Disease
|
Cmt - [Charcot-Marie-Tooth Disease]
|
|
|
| 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 24, Autosomal Recessive |
|
SPG24
|
Spastic Paraplegia 24
|
|
Hereditary Spastic Paraplegia 24
|
Autosomal Recessive Spastic Paraplegia Type 24
|
|
Autosomal Recessive Spastic Paraplegia 24
|
|
|
| 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 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
|
|
|
| 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
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| 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, Optic Atrophy, And Neuropathy |
|
Spoan Syndrome
|
SPOAN
|
|
Spastic Paraplegia, Optic Atropy, And Neuropathy
|
Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome
|
|
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
|
|
|
| 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
|
|
|
| Spastic Paraplegia 34, X-Linked |
|
SPG34
|
Hereditary Spastic Paraplegia 34
|
|
X-Linked Spastic Paraplegia Type 34
|
X-Linked Spastic Paraplegia 34
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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 Ataxia |
|
|
| Retinitis Pigmentosa |
|
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
|
|
|
| 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
|
|
|
