| 疾病名称 |
别名 |
|
| 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
|
|
|
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
Nbia
|
Neurodegeneration With Brain Iron Accumulation Disorders
|
|
Neurodegeneration, With Brain Iron Accumulation
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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 6 |
|
NBIA6
|
Copan
|
|
Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation
|
Coasy Protein-Associated Neurodegeneration
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 6
|
|
|
| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
|
Paralysis Agitans
|
Shaking Palsy
|
|
Shaking Paralysis
|
|
|
| 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
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Oromandibular Dystonia |
|
|
| 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 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
|
|
|
| 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
|
|
|
| Neuroaxonal Dystrophy |
|
|
| 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
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 2 |
|
|
| Retinal Degeneration |
|
|
| Choreoacanthocytosis |
|
Chorea-Acanthocytosis
|
CHAC
|
|
Acanthocytosis With Neurologic Disorder
|
Levine-Critchley Syndrome
|
|
Choreaacanthocytosis
|
Chorea Acanthocytosis
|
|
Neuroacanthocytosis
|
Levine-Critchley Syndrome, Formerly
|
|
Neuroacanthocytosis, Formerly
|
Choreo-Acanthocytosis
|
|
Acanthocytosis Chorea
|
Chorea Acanthocytosis Syndrome
|
|
|
| Neuroacanthocytosis |
|
Neuroacanthocytosis Syndrome
|
|
|
| Mcleod Syndrome |
|
Mcleod Neuroacanthocytosis Syndrome
|
MLS
|
|
X-Linked Mcleod Syndrome
|
Mcleod Phenotype
|
|
Neuroacanthocytosis, Mcleod Type
|
Mcleod Syndrome With Or Without Chronic Granulomatous Disease
|
|
MCLDS
|
Mcleod Type Neuroacanthocytosis
|
|
Mcleod Syndrome With Chronic Granulomatous Disease
|
Neuroacanthocytosis Mcleod Type
|
|
Blood Group Deletion Syndrome
|
|
|
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Congenital Bilateral Absence Of Vas Deferens
|
CBAVD
|
|
Cavd
|
Congenital Bilateral Aplasia Of Vas Deferens
|
|
Congenital Bilateral Absence Of The Vas Deferens
|
Congenital Bilateral Agenesis Of Vas Deferens
|
|
Absence Of Vas Deferens
|
Absent Vasa
|
|
Congenital Absence Of Vas Deferens
|
Congenital Aplasia Of Vas Deferens
|
|
Absent Vas Deferens
|
Vas Deferens, Congenital Bilateral Absence
|
|
|
| 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
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
MC1DN16
|
Nuclear Type Mitochondrial Complex I Deficiency 16
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 16
|
|
|
| Focal Dystonia |
|
Dystonia, Focal, Task-Specific
|
|
|
| Early-Onset Parkinson'S Disease |
|
Early-Onset Parkinson Disease
|
|
|
| Iron Metabolism Disease |
|
Iron Deficiency
|
Iron Disorder
|
|
Iron Metabolism Disorders
|
Disorder Of Iron Metabolism
|
|
Iron
|
Fe Deficiency
|
|
Iron Storage Disease
|
Iron Storage Disorder
|
|
|
| Blepharospasm |
|
|
| Hemochromatosis, Type 1 |
|
Hemochromatosis
|
Hemochromatosis Type 1
|
|
Hereditary Hemochromatosis
|
Hh
|
|
HFE1
|
Hfe Hemochromatosis, Modifier Of
|
|
Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
|
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
|
Iron Storage Disorder
|
Bronze Diabetes
|
|
Hereditary Haemochromatosis
|
Hlah
|
|
Hfe
|
Hemochromatosis, Hereditary
|
|
Diabetes Bronze
|
Classic Hemochromatosis
|
|
Hfe-Associated Hereditary Hemochromatosis
|
Hemochromatosis Classic
|
|
Bronzed Cirrhosis
|
Familial Hemochromatosis
|
|
Genetic Hemochromatosis
|
Hc
|
|
Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
|
Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
|
Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
|
Bronze Cirrhosis
|
|
|
| Spasmodic Dystonia |
|
|
| Hemochromatosis, Type 3 |
|
Hemochromatosis Type 3
|
HFE3
|
|
Hemochromatosis Due To Defect In Transferrin Receptor 2
|
Tfr2-Related Hemochromatosis
|
|
Tfr2-Related Hereditary Hemochromatosis
|
Hemochromatosis 3
|
|
|
| Dystonia 12 |
|
DYT12
|
Rdp
|
|
Generalized Dystonia
|
Dystonia-12
|
|
Rapid-Onset Dystonia-Parkinsonism
|
Familial Dystonia
|
|
Dystonia Musculorum Deformans
|
Dystonic Disorders
|
|
Idiopathic Familial Dystonia
|
Dystonia-Parkinsonism, Rapid-Onset
|
|
Fragments Of Torsion Dystonia
|
Dyt-Atp1a3
|
|
Rapid-Onset Dystonia Parkinsonism
|
Rodp
|
|
Dystonia, Type 12
|
Dystonia 3, Torsion, X-Linked
|
|
Idiopathic Non-Familial Dystonia
|
Symptomatic Torsion Dystonia
|
|
Dystonia Disorders
|
|
|
| Cervical Dystonia |
|
|
| Lingual-Facial-Buccal Dyskinesia |
|
Orofacial Dyskinesia
|
Oro-Facial Dyskinesia
|
|
Dyskinesias
|
|
|
| Spermatogenic Failure |
|
Azoospermia
|
Spgf
|
|
Spermatogenic Failure, Susceptibility To
|
Absent Sperm
|
|
Aspermatogenesis
|
Infertility Due To Azoospermia
|
|
Hypospermatogenesis
|
Azoospermatism
|
|
|
| Alcohol-Related Neurodevelopmental Disorder |
|
Static Encephalopathy
|
Arnd
|
|
Encephalopathy, Static
|
Alcohol Related Neurodevelopmental Disorder
|
|
|
| Choreatic Disease |
|
|
| Huntington Disease-Like 2 |
|
HDL2
|
Huntington'S Disease-Like 2
|
|
Huntington Disease-Like, Type 2
|
|
|
| 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
|
|
|
| Lesch-Nyhan Syndrome |
|
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
LNS
|
|
Hprt Deficiency
|
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
|
X-Linked Hyperuricemia
|
|
Choreoathetosis Self-Mutilation Syndrome
|
Hprt1 Deficiency
|
|
Hprt Deficiency, Complete
|
Deficiency Of Imp Pyrophosphorylase
|
|
Hgprt Deficiency
|
Lesch-Nyhan Disease
|
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
|
Hg-Prt Deficiency
|
|
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency
|
Lesch - Nyhan Syndrome
|
|
Hprt1 Disorders
|
Lesch Nyhan Syndrome
|
|
Complete Hprt Deficiency Complete
|
Lesch Nyhan Disease
|
|
Complete Hprt Deficiency
|
Deficiency Of Guanine Phosphoribosyltransferase
|
|
Deficiency Of Hypoxanthine Phosphoribosyltransferase
|
Hypoxanthine Phosphoribosyltransferase Deficiency
|
|
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
|
Juvenile Hyperuricemia Syndrome
|
|
Lnd
|
Primary Hyperuricemia Syndrome
|
|
Total Hprt Deficiency
|
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
|
|
X-Linked Primary Hyperuricemia
|
X-Linked Uric Aciduria Enzyme Defect
|
|
Hprt Complete Deficiency
|
Hprt Deficiency Grade Iv
|
|
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
|
|
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency
|
Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
|
|
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
|
|
|
| Basal Ganglia Calcification |
|
Fahr'S Syndrome
|
Fahr'S Disease
|
|
Fahr Disease
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| 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
|
|
|
| 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
|
|
|
