| Diseases |
Alias |
|
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Fatty Acid Hydroxylase-Associated Neurodegeneration
|
Fahn
|
|
SPG35
|
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
|
|
Spastic Paraplegia 35, Autosomal Recessive
|
Spastic Paraplegia 35
|
|
Dysmyelinating Leukodystrophy And Spastic Paraparesis
|
Leukodystrophy Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
|
|
Spastic Paraplegia-35
|
Paraplegia, Spastic, Autosomal Recessive, Type 35
|
|
|
| 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
|
|
|
| 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
|
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
Nbia
|
Neurodegeneration With Brain Iron Accumulation Disorders
|
|
Neurodegeneration, With Brain Iron Accumulation
|
|
|
| Leukodystrophy |
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| Spastic Paraparesis |
|
|
| Spastic Ataxia |
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| 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
|
|
|
| Neurodegeneration With Brain Iron Accumulation 2a |
|
Infantile Neuroaxonal Dystrophy
|
Plan
|
|
Seitelberger Disease
|
Inad
|
|
Infantile Neuroaxonal Dystrophy 1
|
Inad1
|
|
Pla2g6-Associated Neurodegeneration
|
NBIA2A
|
|
Neuroaxonal Dystrophy, Infantile
|
Neurodegeneration, Pla2g6-Associated
|
|
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
|
Phospholipase A2-Associated Neurodegeneration
|
|
Nbia2
|
Pla2g6-Related Disorders
|
|
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy
|
Karak Syndrome, Included
|
|
Nbia2b
|
Neuroaxonal Dystrophy, Atypical
|
|
Neurodegeneration With Brain Iron Accumulation 2b
|
Nbia, Pla2g6-Related
|
|
Seitelberger'S Disease
|
Neurodegeneration Pla2g6-Associated
|
|
Dystrophy, Neuroaxonal, Infantile
|
Neurodegeneration, With Brain Iron Accumulation, Type 2a
|
|
Neuroaxonal Dystrophies
|
Neurodegeneration With Brain Iron Accumulation 2
|
|
|
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neuroferritinopathy
|
NBIA3
|
|
Ferritin-Related Neurodegeneration
|
Hereditary Ferritinopathy
|
|
Basal Ganglia Disease, Adult-Onset
|
Adult Basal Ganglia Disease
|
|
Neuroferritinopathy
|
Basal Ganglia Disease, Adult-Onset
|
|
Basal Ganglia Disease Adult-Onset
|
Adult-Onset Basal Ganglia Disease
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 3
|
|
|
| Kufor-Rakeb Syndrome |
|
Park9
|
Krppd
|
|
KRS
|
Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
|
|
Autosomal Recessive Parkinson Disease 9
|
Parkinson Disease 9
|
|
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset
|
Autosomal Recessive Juvenile Onset Parkinson Disease 9
|
|
Parkinson Disease Type 9
|
Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
|
|
Park 9
|
Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Cln12 Disease
|
Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
|
|
Parkinson Disease Autosomal Recessive 9
|
|
|
| Neuropathy, Hereditary Sensory, Type Iic |
|
HSN2C
|
Hereditary Sensory Neuropathy Type 2c
|
|
Hereditary Sensory Neuropathy Type Iic
|
Neuropathy, Hereditary Sensory, Type 2c
|
|
Neuropathy, Hereditary Sensory, 2c
|
Hsn Iice
|
|
Neuropathy, Sensory, Hereditary, Type Iic
|
|
|
| Neurodegeneration With Brain Iron Accumulation 2b |
|
NBIA2B
|
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
|
|
Neuroaxonal Dystrophy, Atypical
|
Karak Syndrome
|
|
Atypical Neuroaxonal Dystrophy
|
Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 2b
|
Neurodegeneration With Brain Iron Accumulation 2
|
|
|
| Woodhouse-Sakati Syndrome |
|
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome
|
Woodhouse Sakati Syndrome
|
|
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome
|
WDSKS
|
|
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia
|
Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
|
|
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia
|
Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
|
|
Neuroectodermal Endocrine Syndrome
|
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
|
|
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome
|
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
|
|
Wss
|
|
|
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Pantothenate Kinase-Associated Neurodegeneration
|
Pkan
|
|
NBIA1
|
Hallervorden-Spatz Disease
|
|
Hallervorden-Spatz Syndrome
|
Pigmentary Pallidal Degeneration
|
|
Neuroaxonal Dystrophy, Late Infantile
|
Neurodegeneration With Brain Iron Accumulation Type 1
|
|
Classic Pantothenate Kinase-Associated Neurodegeneration
|
Pkan Neuroaxonal Dystrophy, Juvenile-Onset
|
|
Brain Iron Accumulation Type I Syndrome
|
Nbia
|
|
Neurodegeneration With Brain Iron Accumulation
|
Nbia1, Classic Form
|
|
Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form
|
Pkan, Classic Form
|
|
Atypical Pantothenate Kinase-Associated Neurodegeneration
|
Nbia1, Atypical Form
|
|
Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form
|
Pkan, Atypical Form
|
|
Hss
|
Pkan Neuroaxonal Dystrophy Juvenile-Onset
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 1
|
|
|
| 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 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
|
|
|
| Neuroaxonal Dystrophy |
|
|
| Neurodegeneration With Brain Iron Accumulation 4 |
|
NBIA4
|
Mpan
|
|
Mitochondrial Protein-Associated Neurodegeneration
|
Nbia Due To C19orf12 Mutation
|
|
Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation
|
Neurodegeneration With Brain Iron Accumulation Type 4
|
|
Mitochondrial Membrane Protein Associated Neurodegeneration
|
Neurodegeneration, With Brain Iron Accumulation, Type 4
|
|
|
| Neurodegeneration With Brain Iron Accumulation 5 |
|
NBIA5
|
Beta-Propeller Protein-Associated Neurodegeneration
|
|
Bpan
|
Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
|
|
Senda
|
Neurodegeneration With Brain Iron Accumulation Type 5
|
|
Neurodegeneration With Brain Iron Accululation 5
|
Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
|
|
Neurodegeneration, With Brain Iron Accululation, Type 5
|
|
|
| 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 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
|
|
|
| Sjogren-Larsson Syndrome |
|
Sjögren-Larsson Syndrome
|
SLS
|
|
Faldh Deficiency
|
Fatty Aldehyde Dehydrogenase Deficiency
|
|
Fatty Acid Alcohol Oxidoreductase Deficiency
|
Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
|
|
Sjogren Larsson Syndrome
|
Fatty Alcohol:Nad+ Oxidoreductase Deficiency
|
|
Sjogren-Larsson'S Syndrome
|
Fadh Deficiency
|
|
Fao Deficiency
|
Congenital Icthyosis Mental Retardation Spasticity Syndrome
|
|
Ichthyosis Oligophrenia Syndrome
|
Sjoegren-Larsson Syndrome
|
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
SPG14
|
Hereditary Spastic Paraplegia 14
|
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
|
Spastic Paraplegia 14
|
|
|
| Early-Onset Parkinson'S Disease |
|
Early-Onset Parkinson Disease
|
|
|
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonian-Pyramidal Syndrome
|
Pallidopyramidal Syndrome
|
|
Parkinson Disease 15, Autosomal Recessive
|
PARK15
|
|
Pkps
|
Pallido-Pyramidal Syndrome
|
|
Parkinson'S Disease 15
|
Autosomal Recessive Early-Onset Parkinson Disease 15
|
|
Autosomal Recessive Early-Onset Parkinson'S Disease 15
|
Pallido-Pyramidal Disease
|
|
Parkinson Disease 15
|
Parkinson Disease 15 Autosomal Recessive
|
|
Pps
|
Parkinson Disease, Type 15
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| 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
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
SCAR24
|
Autosomal Recessive Spinocerebellar Ataxia 24
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 24
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
|
|
|
| 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
|
|
|
| Leukodystrophy, Hypomyelinating, 2 |
|
Pmld1
|
Hypomyelinating Leukodystrophy 2
|
|
HLD2
|
Pelizaeus-Merzbacher-Like Disease 1
|
|
Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation
|
Pelizaeus-Merzbacher-Like Disease Type 1
|
|
Pelizaeus-Merzbacher-Like Disease, 1
|
Pelizaeus Merzbacher Like Disease
|
|
Pelizaeus-Merzbacher-Like Disease
|
Pmld - Pelizaeus Merzbacher Like Disease
|
|
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1
|
Pmldar1
|
|
Leukodystrophy, Hypomyelinating, Type 2
|
|
|
| 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
|
|
|
| Pelizaeus-Merzbacher Disease |
|
PMD
|
HLD1
|
|
Pelizaeus-Merzbacher Brain Sclerosis
|
Leukodystrophy, Hypomyelinating, 1
|
|
Diffuse Familial Brain Sclerosis
|
Pelizaeus Merzbacher Brain Sclerosis
|
|
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type
|
Cockayne-Pelizaeus-Merzbacher Disease
|
|
Hypomyelinating Leukodystrophy 1
|
Leukodystrophy, Sudanophilic
|
|
Pelizaeus Merzbacher Disease
|
Hypomyelinating Leukodystrophy, 1
|
|
Sudanophilic Leukodystrophy
|
Pelizaeus-Merzbacher Disease, Connatal Form
|
|
Connatal Pmd
|
Pelizaeus-Merzbacher Disease Type Ii
|
|
Severe Pmd
|
Null Syndrome
|
|
Plp1 Null Syndrome
|
Pelizaeus-Merzbacher Disease, Null Syndrome
|
|
Brain Sclerosis Diffuse Familial
|
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
|
|
Leukodystrophy Hypomyelinating 1
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
|
| 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
|
|
|
| Hypomyelinating Leukodystrophy |
|
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
