| 疾病名称 |
别名 |
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| Neurodegeneration With Brain Iron Accumulation 6 |
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NBIA6
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Copan
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Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation
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Coasy Protein-Associated Neurodegeneration
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Neurodegeneration, With Brain Iron Accumulation, Type 6
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|
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| Pontocerebellar Hypoplasia, Type 12 |
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PCH12
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Pontocerebellar Hypoplasia Type 12
|
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Coasy-Related Pontocerebellar Hypoplasia
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Pontocerebellar Hypoplasia 12
|
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Doid:0112327
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Hypoplasia, Pontocerebellar, Type 12
|
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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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| Pontocerebellar Hypoplasia |
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Pch
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Congenital Pontocerebellar Hypoplasia
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Opch
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Hypoplasia, Pontocerebellar
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Pontoneocerebellar Hypoplasia
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Nonsyndromic Pontocerebellar Hypoplasia
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|
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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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|
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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 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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|
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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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| 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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|
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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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| 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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| 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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| Mitochondrial Dna Depletion Syndrome 5 |
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Succinate-Coa Ligase Deficiency
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
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MTDPS5
|
Booth-Haworth-Dilling Syndrome
|
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Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related
|
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic
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Mitochondrial Dna Depletion Syndrome-5
|
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive
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Mitochondrial Encephalomyopathy Aminoacidopathy
|
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Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
|
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Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria
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Succinate-Coenzyme A Ligase Deficiency
|
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Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome
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Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria
|
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Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria
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Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related
|
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
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Mitochondrial Dna Depletion Syndrome, Type 5
|
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| Oromandibular Dystonia |
|
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| Neuroaxonal Dystrophy |
|
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| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
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Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
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Parkinsonian Syndrome
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Trembling Paralysis
|
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Paralysis Agitans
|
Shaking Palsy
|
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Shaking Paralysis
|
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| Microcephaly |
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Microencephaly
|
Microcephalus
|
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Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
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Brain Hypoplasia
|
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Brain Nondevelopment
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Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
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Micrencephaly
|
|
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| Early-Onset Parkinson'S Disease |
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Early-Onset Parkinson Disease
|
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| Dystonia |
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Dystonic Disease
|
Dystonic Disorder
|
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Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
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| Mitochondrial Dna Depletion Syndrome 4b |
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
|
Mngie Syndrome
|
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Thymidine Phosphorylase Deficiency
|
MTDPS4B
|
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Mitochondrial Neurogastrointestinal Encephalopathy Disease
|
Mngie
|
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Myoneurogastrointestinal Encephalopathy Syndrome
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Ogimd
|
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Oculogastrointestinal Muscular Dystrophy
|
Polip
|
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Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
|
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Mngie, Polg-Related
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Mepop
|
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Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction
|
Mngie Disease
|
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Mitochondrial Dna Depletion Syndrome 4b Mngie Type
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
|
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Mngie Polg-Related
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Mitochondrial Dna Depletion Syndrome, Type 4b
|
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Visceral Myopathy Familial External Ophthalmoplegia
|
|
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| Aceruloplasminemia |
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Cerebellar Ataxia
|
Hypoceruloplasminemia
|
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Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
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Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
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Hypoceruloplasminemia, Hereditary
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Ceruloplasmin Deficiency
|
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Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
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| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
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Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
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Hsp
|
Spg
|
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Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
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French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
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Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
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Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
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Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
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