| Diseases |
Alias |
|
| 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
|
|
|
| Ritscher-Schinzel Syndrome 1 |
|
3c Syndrome
|
Craniocerebellocardiac Dysplasia
|
|
RTSC1
|
Dandy-Walker-Like Malformation With Atrioventricular Septal Defect
|
|
Dandy-Walker Like Malformation With Atrioventricular Septal Defect
|
Cranio-Cerebello-Cardiac Dysplasia
|
|
Dandy-Walker-Like Malformation With Asd
|
Ritscher Schinzel Syndrome
|
|
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome
|
Ritscher-Schinzel Syndrome
|
|
3c
|
|
|
| Spastic Paraplegia 8 |
|
Spg8
|
Spastic Paraplegia Type 8
|
|
Autosomal Dominant Spastic Paraplegia 8
|
Hereditary Spastic Paraplegia 8
|
|
Spg 8
|
Spastic Paraplegia 8, Autosomal Dominant
|
|
|
| Ritscher-Schinzel Syndrome |
|
3c Syndrome
|
Ccc Dysplasia
|
|
Craniocerebellocardiac Dysplasia
|
Cranio-Cerebello-Cardiac Dysplasia
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| 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
|
|
|
| Spasticity |
|
|
| Ritscher-Schinzel Syndrome 2 |
|
|
| 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 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 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 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
|
|
|
| Spastic Paraplegia 34, X-Linked |
|
SPG34
|
Hereditary Spastic Paraplegia 34
|
|
X-Linked Spastic Paraplegia Type 34
|
X-Linked Spastic Paraplegia 34
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Hereditary Spastic Paraplegia 30 |
|
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
|
Autosomal Recessive Spastic Paraplegia 30
|
|
|
| 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
|
|
|
| Spastic Paraplegia 44, Autosomal Recessive |
|
SPG44
|
Hereditary Spastic Paraplegia 44
|
|
Autosomal Recessive Spastic Paraplegia 44
|
Autosomal Recessive Spastic Paraplegia Type 44
|
|
Paraplegia, Spastic, Type 44, Autosomal Recessive
|
|
|
| Spastic Paraplegia 77, Autosomal Recessive |
|
SPG77
|
Hereditary Spastic Paraplegia 77
|
|
Autosomal Recessive Spastic Paraplegia 77
|
Autosomal Recessive Spastic Paraplegia Type 77
|
|
|
| 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 41, Autosomal Dominant |
|
SPG41
|
Hereditary Spastic Paraplegia 41
|
|
Autosomal Dominant Spastic Paraplegia Type 41
|
Autosomal Dominant Spastic Paraplegia 41
|
|
|
| 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 14, Autosomal Recessive |
|
SPG14
|
Hereditary Spastic Paraplegia 14
|
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
|
Spastic Paraplegia 14
|
|
|
| Spastic Paraplegia 5a, Autosomal Recessive |
|
SPG5A
|
Hereditary Spastic Paraplegia 5a
|
|
Autosomal Recessive Spastic Paraplegia 5a
|
Autosomal Recessive Spastic Paraplegia Type 5a
|
|
Spastic Paraplegia 5a
|
Spastic Paraplegia Type 5a
|
|
Spastic Paraplegia Type 5a, Recessive
|
Autosomal Recessive Spastic Paraplegia
|
|
Spastic Paraplegia-5a
|
Paraplegia, Spastic, Autosomal Recessive, Type 5a
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| 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, 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 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
|
|
|
| Frontotemporal Dementia |
|
Pallidopontonigral Degeneration
|
Frontotemporal Lobar Degeneration
|
|
Semantic Dementia
|
FTD
|
|
Frontotemporal Lobe Dementia
|
Multiple System Tauopathy With Presenile Dementia
|
|
Dementia, Frontotemporal
|
Frontotemporal Dementia With Parkinsonism
|
|
Mstd
|
Frontotemporal Lobar Degeneration With Tau Inclusions
|
|
Ftld With Tau Inclusions
|
Dementia, Frontotemporal, With Parkinsonism
|
|
Fldem
|
Ftdp17
|
|
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
|
Ddpac
|
|
Wilhelmsen-Lynch Disease
|
Wld
|
|
Ppnd
|
Dementia, Frontotemporal, With Or Without Parkinsonism
|
|
Semantic Primary Progressive Aphasia
|
Semantic Variant Ppa
|
|
Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
|
Ftld
|
Pick Complex
|
|
Pick Disease Of The Brain
|
Frontotemporal Dementia With Parkinsonism-17
|
|
Grn-Related Frontotemporal Dementia
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Dementia In Fronto-Temporal Lobar Degeneration
|
Ftd - [Frontotemporal Dementia]
|
|
Temple Dementia
|
Frontal Lobe Dementia
|
|
|
| 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
|
|
|
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Ibmpfd
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
|
|
Pagetoid Amyotrophic Lateral Sclerosis
|
Pagetoid Neuroskeletal Syndrome
|
|
Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia
|
Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
|
|
Multisystem Proteinopathy
|
Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
|
|
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
|
|
Lower Motor Neuron Degeneration With Paget-Like Bone Disease
|
Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
|
|
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
|
|
|
| Parkinson Disease, Late-Onset |
|
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
|
|
|
| Spastic Ataxia |
|
|
