| 疾病名称 |
别名 |
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| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Fatty Acid Hydroxylase-Associated Neurodegeneration
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Fahn
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SPG35
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Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
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Spastic Paraplegia 35, Autosomal Recessive
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Spastic Paraplegia 35
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Dysmyelinating Leukodystrophy And Spastic Paraparesis
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Leukodystrophy Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
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Spastic Paraplegia-35
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Paraplegia, Spastic, Autosomal Recessive, Type 35
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| Hereditary Spastic Paraplegia 35 |
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Autosomal Recessive Spastic Paraplegia Type 35
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Spg35
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Autosomal Recessive Spastic Paraplegia 35
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Fahn
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Fatty Acid Hydroxylase-Associated Neurodegeneration
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Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
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| Hereditary Spastic Paraplegia |
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Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
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Strumpell-Lorrain Disease
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Familial Spastic Paraparesis
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Hsp
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Spg
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Strümpell-Lorrain Disease
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Spastic Paraplegia, Hereditary
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French Settlement Disease
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Strumpell-Lorrain Syndrome
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Fsp
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Spastic Paraplegia, Familial
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Spastic Paraplegia Hereditary
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Spastic Paraplegia 3, Autosomal Dominant
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Spastic Paraparesis
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Hereditary Spastic Paralysis
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Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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| Neurodegeneration With Brain Iron Accumulation |
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Nbia
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Neurodegeneration With Brain Iron Accumulation Disorders
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Neurodegeneration, With Brain Iron Accumulation
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| Leukodystrophy |
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| Paraplegia |
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Paraplegia, Lower
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Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
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| Spastic Paraparesis |
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| Spastic Ataxia |
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| Dystonia |
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Dystonic Disease
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Dystonic Disorder
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Dystonia Disorders
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Neuroleptic Dyskinesia
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| Spastic Paraplegia 73, Autosomal Dominant |
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SPG73
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Hereditary Spastic Paraplegia 73
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Autosomal Dominant Spastic Paraplegia Type 73
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Autosomal Dominant Spastic Paraplegia 73
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Paraplegia, Spastic, Autosomal Dominant, Type 73
|
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| Neurodegeneration With Brain Iron Accumulation 2a |
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Infantile Neuroaxonal Dystrophy
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Plan
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Seitelberger Disease
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Inad
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Infantile Neuroaxonal Dystrophy 1
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Inad1
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Pla2g6-Associated Neurodegeneration
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NBIA2A
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Neuroaxonal Dystrophy, Infantile
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Neurodegeneration, Pla2g6-Associated
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Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
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Phospholipase A2-Associated Neurodegeneration
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Nbia2
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Pla2g6-Related Disorders
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Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy
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Karak Syndrome, Included
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Nbia2b
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Neuroaxonal Dystrophy, Atypical
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Neurodegeneration With Brain Iron Accumulation 2b
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Nbia, Pla2g6-Related
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Seitelberger'S Disease
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Neurodegeneration Pla2g6-Associated
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Dystrophy, Neuroaxonal, Infantile
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Neurodegeneration, With Brain Iron Accumulation, Type 2a
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Neuroaxonal Dystrophies
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Neurodegeneration With Brain Iron Accumulation 2
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| Neurodegeneration With Brain Iron Accumulation 3 |
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Neuroferritinopathy
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NBIA3
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Ferritin-Related Neurodegeneration
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Hereditary Ferritinopathy
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Basal Ganglia Disease, Adult-Onset
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Adult Basal Ganglia Disease
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Neuroferritinopathy
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Basal Ganglia Disease, Adult-Onset
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Basal Ganglia Disease Adult-Onset
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Adult-Onset Basal Ganglia Disease
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Neurodegeneration, With Brain Iron Accumulation, Type 3
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| Kufor-Rakeb Syndrome |
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Park9
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Krppd
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KRS
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Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
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Autosomal Recessive Parkinson Disease 9
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Parkinson Disease 9
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Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset
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Autosomal Recessive Juvenile Onset Parkinson Disease 9
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Parkinson Disease Type 9
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Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
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Park 9
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Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
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Cln12 Disease
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Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
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Parkinson Disease Autosomal Recessive 9
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| Neuropathy, Hereditary Sensory, Type Iic |
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HSN2C
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Hereditary Sensory Neuropathy Type 2c
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Hereditary Sensory Neuropathy Type Iic
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Neuropathy, Hereditary Sensory, Type 2c
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Neuropathy, Hereditary Sensory, 2c
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Hsn Iice
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Neuropathy, Sensory, Hereditary, Type Iic
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| Neurodegeneration With Brain Iron Accumulation 2b |
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NBIA2B
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Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
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Neuroaxonal Dystrophy, Atypical
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Karak Syndrome
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Atypical Neuroaxonal Dystrophy
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Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
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Neurodegeneration, With Brain Iron Accumulation, Type 2b
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Neurodegeneration With Brain Iron Accumulation 2
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| Woodhouse-Sakati Syndrome |
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Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome
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Woodhouse Sakati Syndrome
|
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Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome
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WDSKS
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Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia
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Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
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Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia
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Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
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Neuroectodermal Endocrine Syndrome
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Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
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Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome
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Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
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Wss
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| Neurodegeneration With Brain Iron Accumulation 1 |
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Pantothenate Kinase-Associated Neurodegeneration
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Pkan
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NBIA1
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Hallervorden-Spatz Disease
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Hallervorden-Spatz Syndrome
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Pigmentary Pallidal Degeneration
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Neuroaxonal Dystrophy, Late Infantile
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Neurodegeneration With Brain Iron Accumulation Type 1
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Classic Pantothenate Kinase-Associated Neurodegeneration
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Pkan Neuroaxonal Dystrophy, Juvenile-Onset
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Brain Iron Accumulation Type I Syndrome
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Nbia
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Neurodegeneration With Brain Iron Accumulation
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Nbia1, Classic Form
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Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form
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Pkan, Classic Form
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Atypical Pantothenate Kinase-Associated Neurodegeneration
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Nbia1, Atypical Form
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Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form
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Pkan, Atypical Form
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Hss
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Pkan Neuroaxonal Dystrophy Juvenile-Onset
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Neurodegeneration, With Brain Iron Accumulation, Type 1
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| Spastic Paraplegia 54, Autosomal Recessive |
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SPG54
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Hereditary Spastic Paraplegia 54
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Autosomal Recessive Spastic Paraplegia Type 54
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Autosomal Recessive Spastic Paraplegia 54
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Paraplegia, Spastic, Type 54, Autosomal Recessive
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| Spastic Paraplegia 43, Autosomal Recessive |
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SPG43
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Hereditary Spastic Paraplegia 43
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Autosomal Recessive Spastic Paraplegia Type 43
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Autosomal Recessive Spastic Paraplegia 43
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Paraplegia, Spastic, Type 43, Autosomal Recessive
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| Neuroaxonal Dystrophy |
|
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| Neurodegeneration With Brain Iron Accumulation 4 |
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NBIA4
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Mpan
|
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Mitochondrial Protein-Associated Neurodegeneration
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Nbia Due To C19orf12 Mutation
|
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Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation
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Neurodegeneration With Brain Iron Accumulation Type 4
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Mitochondrial Membrane Protein Associated Neurodegeneration
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Neurodegeneration, With Brain Iron Accumulation, Type 4
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| Neurodegeneration With Brain Iron Accumulation 5 |
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NBIA5
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Beta-Propeller Protein-Associated Neurodegeneration
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Bpan
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Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
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Senda
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Neurodegeneration With Brain Iron Accumulation Type 5
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Neurodegeneration With Brain Iron Accululation 5
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Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
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Neurodegeneration, With Brain Iron Accululation, Type 5
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| Spastic Paraplegia 26, Autosomal Recessive |
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SPG26
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Hereditary Spastic Paraplegia 26
|
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Autosomal Recessive Spastic Paraplegia Type 26
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Gm2 Synthase Deficiency
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Spastic Paraplegia 26
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Autosomal Recessive Spastic Paraplegia 26
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Paraplegia, Spastic, Autosomal Recessive, Type 26
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| Spastic Paraplegia 2, X-Linked |
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SPG2
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Hereditary Spastic Paraplegia 2
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Sppx2
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Spastic Paraplegia Type 2
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Spastic Paraplegia 2
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Hereditary X-Linked Recessive Spastic Paraplegia
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X-Linked Spastic Paraplegia 2
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X Linked Recessive Hereditary Spastic Paraplegia
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Spastic Gait Type 2
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Spastic Paraparesis Type 2
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X-Linked Spastic Paraplegia Type 2
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Spastic Paraplegia Type 2, X-Linked
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Spastic Paraplegia-2
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Paraplegia, Spastic, Type 2
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| Sjogren-Larsson Syndrome |
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Sjögren-Larsson Syndrome
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SLS
|
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Faldh Deficiency
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Fatty Aldehyde Dehydrogenase Deficiency
|
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Fatty Acid Alcohol Oxidoreductase Deficiency
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Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
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Sjogren Larsson Syndrome
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Fatty Alcohol:Nad+ Oxidoreductase Deficiency
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Sjogren-Larsson'S Syndrome
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Fadh Deficiency
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Fao Deficiency
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Congenital Icthyosis Mental Retardation Spasticity Syndrome
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Ichthyosis Oligophrenia Syndrome
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Sjoegren-Larsson Syndrome
|
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| Spastic Paraplegia 14, Autosomal Recessive |
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SPG14
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Hereditary Spastic Paraplegia 14
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Autosomal Recessive Spastic Paraplegia Type 14
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Autosomal Recessive Spastic Paraplegia 14
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Spastic Paraplegia 14
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| Early-Onset Parkinson'S Disease |
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Early-Onset Parkinson Disease
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| Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Parkinsonian-Pyramidal Syndrome
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Pallidopyramidal Syndrome
|
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Parkinson Disease 15, Autosomal Recessive
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PARK15
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Pkps
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Pallido-Pyramidal Syndrome
|
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Parkinson'S Disease 15
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Autosomal Recessive Early-Onset Parkinson Disease 15
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Autosomal Recessive Early-Onset Parkinson'S Disease 15
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Pallido-Pyramidal Disease
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Parkinson Disease 15
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Parkinson Disease 15 Autosomal Recessive
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Pps
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Parkinson Disease, Type 15
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| Cerebral Degeneration |
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Brain Degeneration
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Degenerative Brain Disorder
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| Masa Syndrome |
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L1 Syndrome
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Crash Syndrome
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X-Linked Hydrocephalus Syndrome
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SPG1
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Gareis-Mason Syndrome
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Spastic Paraplegia 1, X-Linked
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Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
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L1cam Syndrome
|
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Spastic Paraplegia 1
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Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
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Clasped Thumb And Mental Retardation
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Thumb, Congenital Clasped, With Mental Retardation
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Adducted Thumb With Mental Retardation
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Hereditary Spastic Paraplegia 1
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X-Linked Complicated Hereditary Spastic Paraplegia Type 1
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X-Linked Corpus Callosum Agenesis
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X-Linked Spastic Paraplegia 1
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L1 Disease
|
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X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis
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Adducted Thumb With Intellectual Disability
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Clasped Thumb And Intellectual Disability
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Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
|
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Thumb Congenital Clasped With Intellectual Disability
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X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
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Adducted Thumbs-Mental Retardation Syndrome
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Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
|
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Mental Retardation-Clasped Thumb Syndrome
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Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
|
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Spastic Paraplegia Type 1, X-Linked
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MASA
|
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Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus
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Crash
|
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Masa Syndrome
|
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| Spinocerebellar Ataxia, Autosomal Recessive 24 |
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SCAR24
|
Autosomal Recessive Spinocerebellar Ataxia 24
|
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Spinocerebellar Ataxia, Autosomal Recessive, 24
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Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
|
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| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
|
Hereditary Spastic Paraplegia 10
|
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Autosomal Dominant Spastic Paraplegia Type 10
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Spastic Paraplegia 10
|
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Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
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Autosomal Dominant Spastic Paraplegia 10
|
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Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
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Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
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| Leukodystrophy, Hypomyelinating, 2 |
|
Pmld1
|
Hypomyelinating Leukodystrophy 2
|
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HLD2
|
Pelizaeus-Merzbacher-Like Disease 1
|
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Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation
|
Pelizaeus-Merzbacher-Like Disease Type 1
|
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Pelizaeus-Merzbacher-Like Disease, 1
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Pelizaeus Merzbacher Like Disease
|
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Pelizaeus-Merzbacher-Like Disease
|
Pmld - Pelizaeus Merzbacher Like Disease
|
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Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1
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Pmldar1
|
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Leukodystrophy, Hypomyelinating, Type 2
|
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| Spastic Cerebral Palsy |
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Palsy, Cerebral, Spastic
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Infantile Hemiplegia Nos
|
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Postnatal Infantile Hemiplegia Nos
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Congenital Spastic Hemiplegia
|
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Spastic Hemiplegic Cerebral Palsy
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Congenital Hemiplegia Nos
|
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Hemiplegic Cerebral Palsy
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Hemiplegic Infantile Cerebral Palsy
|
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| Pelizaeus-Merzbacher Disease |
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PMD
|
HLD1
|
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Pelizaeus-Merzbacher Brain Sclerosis
|
Leukodystrophy, Hypomyelinating, 1
|
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Diffuse Familial Brain Sclerosis
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Pelizaeus Merzbacher Brain Sclerosis
|
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Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type
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Cockayne-Pelizaeus-Merzbacher Disease
|
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Hypomyelinating Leukodystrophy 1
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Leukodystrophy, Sudanophilic
|
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Pelizaeus Merzbacher Disease
|
Hypomyelinating Leukodystrophy, 1
|
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Sudanophilic Leukodystrophy
|
Pelizaeus-Merzbacher Disease, Connatal Form
|
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Connatal Pmd
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Pelizaeus-Merzbacher Disease Type Ii
|
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Severe Pmd
|
Null Syndrome
|
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Plp1 Null Syndrome
|
Pelizaeus-Merzbacher Disease, Null Syndrome
|
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Brain Sclerosis Diffuse Familial
|
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
|
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Leukodystrophy Hypomyelinating 1
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
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| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
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Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
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Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
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| Hypomyelinating Leukodystrophy |
|
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
