| 疾病名称 |
别名 |
|
| 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
|
|
|
| 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 |
|
Nbia
|
Neurodegeneration With Brain Iron Accumulation Disorders
|
|
Neurodegeneration, With Brain Iron Accumulation
|
|
|
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Neurodegeneration With Brain Iron Accumulation 4
|
Nbia4
|
|
Mpan
|
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 Due To C19orf12 Mutation
|
Mitochondrial Protein-Associated Neurodegeneration
|
|
|
| Tremor |
|
Medicament-Induced Tremor
|
Medication-Induced Postural Tremor
|
|
|
| Spastic Ataxia |
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| 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 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
|
|
|
| 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
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Pontocerebellar Hypoplasia, Type 1e |
|
Pontocerebellar Hypoplasia Type 1
|
PCH1E
|
|
Norman Disease
|
Pch1
|
|
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
|
Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
|
|
Pontocerebellar Hypoplasia Type 1e
|
Pontocerebellar Hypoplasia 1e
|
|
Doid:0112322
|
Doid:0112330
|
|
|
| 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
|
|
|
| Neuroaxonal Dystrophy |
|
|
| Behr Syndrome |
|
BEHRS
|
Abortive Cerebellar Ataxia
|
|
Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities
|
Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of
|
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss
|
Obsolete: Behr Syndrome
|
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss
|
Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
|
|
|
| Thyroid Dyshormonogenesis 1 |
|
TDH1
|
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 1
|
|
Genetic Defect In Thyroid Hormonogenesis 1
|
Thyroid Hormonogenesis, Genetic Defect In, 1
|
|
Iodine Accumulation, Transport, Or Trapping Defect
|
Iodide Accumulation, Transport, Or Trapping Defect
|
|
Chdh1
|
Congenital Hypothyroidism Due To Dyshormonogenesis Type 1
|
|
Iodine Accumulation, Transport Or Trapping Defect
|
|
|
| Alcohol-Related Neurodevelopmental Disorder |
|
Static Encephalopathy
|
Arnd
|
|
Encephalopathy, Static
|
Alcohol Related Neurodevelopmental Disorder
|
|
|
| Spastic Paraplegia 75, Autosomal Recessive |
|
SPG75
|
Hereditary Spastic Paraplegia 75
|
|
Autosomal Recessive Spastic Paraplegia Type 75
|
Autosomal Recessive Spastic Paraplegia 75
|
|
|
| Early-Onset Parkinson'S Disease |
|
Early-Onset Parkinson Disease
|
|
|
| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
|
Paralysis Agitans
|
Shaking Palsy
|
|
Shaking Paralysis
|
|
|
| Oromandibular Dystonia |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
|
Costeff Syndrome
|
Mga3
|
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
|
MGCA3
|
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
|
Second Cranium Nerve Atrophy
|
|
|
| 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
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Neuronal Ceroid Lipofuscinosis |
|
Hereditary Ceroid Lipofuscinosis
|
Batten Disease
|
|
Ncl
|
Neuronal Ceroid-Lipofuscinoses
|
|
Lipofuscinosis, Ceroid, Neuronal
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
|
Ceroid-Lipofuscinosis
|
Ncl - [Neuronal Ceroid Lipofuscinosis]
|
|
Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
|
Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
|
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
|
|
|
