| 疾病名称 |
别名 |
|
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Jansky-Bielschowsky Disease
|
Neuronal Ceroid Lipofuscinosis 2
|
|
CLN2
|
Lincl
|
|
Cln2 Disease
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
|
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset
|
Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset
|
|
Cln2 Disease, Juvenile
|
Cln2 Disease, Late Infantile
|
|
Late-Infantile Batten Disease
|
Neuronal Ceroid Lipofuscinosis, Late-Infantile
|
|
Classic Late Infantile Ncl
|
Classic Late Infantile Neuronal Ceroid Lipofuscinosis
|
|
Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset
|
Lipofuscinosis, Ceroid, Neuronal, Type 2
|
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
SCAR7
|
Autosomal Recessive Spinocerebellar Ataxia 7
|
|
Spinocerebellar Ataxia Autosomal Recessive 7
|
Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
|
|
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
|
Autosomal Recessive Spinocerebellar Ataxia Type 7
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 7
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
|
|
|
| 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
|
|
|
| Angelman Syndrome |
|
AS
|
Happy Puppet Syndrome
|
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Batten Disease
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Neuronal Ceroid Lipofuscinosis 3
|
CLN3
|
|
Jncl
|
Spielmeyer-Vogt Disease
|
|
Vogt-Spielmeyer Disease
|
Spielmeyer-Sjogren Disease
|
|
Cln3 Disease
|
Neuronal Ceroid Lipofuscinosis, Juvenile
|
|
Cln3 Disease, Juvenile
|
Spielmeyer Sjogren Disease
|
|
Vogt Spielmeyer Disease
|
Batten-Mayou Disease
|
|
Batten-Spielmeyer-Vogt Disease
|
Cln3-Related Neuronal Ceroid-Lipofuscinosis
|
|
Juvenile Batten Disease
|
Juvenile Cerebroretinal Degeneration
|
|
Classic Juvenile Ncl
|
Classic Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Juvenile Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 3
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 13 |
|
Neuronal Ceroid Lipofuscinosis 13
|
CLN13
|
|
Neuronal Ceroid Lipofuscinosis 13 Kufs Type
|
Cln13 Disease
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 13
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency
|
Neuronal Ceroid Lipofuscinosis 10
|
|
CLN10
|
Cathepsin D Deficiency
|
|
Congenital Neuronal Ceroid Lipofuscinosis
|
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
|
|
Cln10 Disease
|
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
|
|
Cln10 Disease, Adult
|
Cln10 Disease, Congenital
|
|
Cln10 Disease, Juvenile
|
Cln10 Disease, Late Infantile
|
|
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient
|
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
|
|
Congenital Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 10
|
|
Neuronal Ceroid Lipofuscinosis, Congenital
|
|
|
| Peripheral Retinal Degeneration |
|
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Neuronal Ceroid Lipofuscinosis 9
|
CLN9
|
|
Cln 9
|
Cln9 Disease
|
|
|
| Partial Optic Atrophy |
|
|
| Retinal Degeneration |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
SCAR6
|
Norwegian Infantile Onset Ataxia
|
|
Autosomal Recessive Spinocerebellar Ataxia 6
|
Autosomal Recessive Spinocerebellar Ataxia Type 6
|
|
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
|
Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive
|
|
Spinocerebellar Ataxia Autosomal Recessive 6
|
Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Neuronal Ceroid Lipofuscinosis 11
|
CLN11
|
|
Cln11 Disease
|
Grn-Related Neuronal Ceroid-Lipofuscinosis
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 11
|
|
|
| Photosensitive Epilepsy |
|
Pse
|
Photogenic Epilepsy
|
|
Photoparoxysmal Response
|
Reflex Epilepsy, Photosensitive
|
|
Photoparoxysmal Response 1
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Northern Epilepsy
|
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
|
|
Epmr
|
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
|
|
Northern Epilepsy Syndrome
|
Epilepsy, Progressive, With Mental Retardation
|
|
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant
|
Progressive Epilepsy With Mental Retardation, Northern Epilepsy
|
|
Cln8 Disease, Northern Epilepsy Variant
|
Ncl, Northern Epilepsy Variant
|
|
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant
|
CLN8NE
|
|
Ceroid Lipofuscinosis, Neuronal, 8
|
|
|
| Progressive Myoclonus Epilepsy 3 |
|
Cln14 Disease
|
Epm3
|
|
Neuronal Ceroid Lipofuscinosis 14
|
Pme Type 3
|
|
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency
|
Progressive Myoclonus Epilepsy Type 3
|
|
Epilepsy, Progressive Myoclonic 3
|
|
|
| Scheie Syndrome |
|
Mucopolysaccharidosis Type Is
|
Alpha-L-Iduronidase Deficiency
|
|
Mucopolysaccharidosis Type I
|
Mucopolysaccharidosis I
|
|
Hurler-Scheie Syndrome
|
Mucopolysaccharidosis Type 1
|
|
Mucopolysaccharidosis Is
|
Mucopolysaccharidosis Type 1s
|
|
Mucopolysaccharidosis Type V
|
Hurler Syndrome
|
|
Idua Deficiency
|
Mps I
|
|
MPS1S
|
Mps1-S
|
|
Mucopolysaccharidosis Type V, Formerly
|
Mps V, Formerly
|
|
Mps5, Formerly
|
Lipochondrodystrophy
|
|
Mpsis
|
Mucopolysaccharidosis, Type I
|
|
Iduronidase Deficiency Disease
|
Mps I - Hurler Syndrome
|
|
Mucopolysaccharidosis, Mps-I
|
Mucopolysaccharidosis, Type 1
|
|
Attenuated Mps I
|
Mps 1
|
|
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)
|
Severe Mps I
|
|
Mps I H
|
Mps I H-S
|
|
Mps I S
|
Mps1
|
|
Mpsi
|
Mucopolysaccharidosis 1s
|
|
Mps Is
|
Mps-Is
|
|
Mps V
|
Mucopolysaccharidosis V
|
|
Pfaundler-Hurler Syndrome
|
L-Iduronidase Deficiency
|
|
Dysostosis Multiplex
|
Dysostosis Multiplex Syndrome
|
|
Gargoylism
|
Mps1 - [Mucopolysaccharidosis Type 1]
|
|
|
| Mucopolysaccharidosis, Type Vii |
|
Sly Syndrome
|
Beta-Glucuronidase Deficiency
|
|
Mucopolysaccharidosis Vii
|
Mucopolysaccharidosis Type Vii
|
|
MPS7
|
Mps Vii
|
|
Gusb Deficiency
|
Mucopolysaccharidosis Type 7
|
|
Mucopolysaccharidosis 7
|
Deficiency Of Beta-Glucuronidase
|
|
Mps Vii - Sly Syndrome
|
Mps 7
|
|
Mpsvii
|
Sly Disease
|
|
Sl
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
SCAR4
|
Scasi
|
|
Spinocerebellar Ataxia With Saccadic Intrusions
|
Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome
|
|
Spinocerebellar Ataxia 24
|
Autosomal Recessive Spinocerebellar Ataxia 4
|
|
Sca24
|
Spinocerebellar Ataxia 24, Formerly
|
|
Sca24, Formerly
|
Spinocerebellar Ataxia Autosomal Recessive 4
|
|
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
|
|
|
| Mucopolysaccharidosis Iii |
|
Sanfilippo Syndrome
|
Mucopolysaccharidosis Type Iii
|
|
Mucopolysaccharidosis Type 3
|
Mps Iii
|
|
Mpsiii
|
Sanfilippo Disease
|
|
Heparan Sulfate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Iii
|
|
N-Sulphoglucosamine Sulphohydrolase Deficiency
|
Naglu Deficiency
|
|
Sanfilippo'S Syndrome
|
Mucopoly-Saccharidosis Type 3
|
|
Mps3
|
Sanfilippos Syndrome
|
|
Mucopolysaccharidosis Type Iiia
|
Mps Iii B
|
|
|
| Mucopolysaccharidosis, Type Iiib |
|
Mucopolysaccharidosis Type Iiib
|
MPS3B
|
|
Naglu Deficiency
|
Mps Iiib
|
|
Sanfilippo Syndrome B
|
N-Acetyl-Alpha-D-Glucosaminidase Deficiency
|
|
Mpsiiib
|
Mucopoly-Saccharidosis Type 3b
|
|
Mucopolysaccharidosis Type 3b
|
N-Acetyl-Alpha-Glucosaminidase Deficiency
|
|
Sanfilippo Syndrome Type B
|
Mps Iii B
|
|
Mps 3b
|
Mps Iii-B
|
|
Mucopolysaccharidosis 3b
|
|
|
| Spinocerebellar Ataxia, X-Linked 1 |
|
X-Linked Progressive Cerebellar Ataxia
|
SCAX1
|
|
Opcax
|
X-Linked Spinocerebellar Ataxia 1
|
|
Olivopontocerebellar Atrophy, X-Linked
|
Opca, X-Linked
|
|
Olivopontocerebellar Atrophy X-Linked
|
Opca X-Linked
|
|
Ataxia, Spinocerebellar, X-Linked Type 1
|
|
|
| Mucopolysaccharidosis, Type Ii |
|
Hunter Syndrome
|
Iduronate 2-Sulfatase Deficiency
|
|
Mucopolysaccharidosis Ii
|
Mps Ii
|
|
Mucopolysaccharidosis Type Ii
|
MPS2
|
|
Sulfoiduronate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Ii
|
|
Ids Deficiency
|
Sids Deficiency
|
|
I2s Deficiency
|
Mucopolysaccharidosis Type 2
|
|
Mucopolysaccharidosis Type 2, Severe Form
|
Deficiency Of Iduronate-2-Sulphatase
|
|
Hunter'S Syndrome
|
Mps Ii - Hunter Syndrome
|
|
Iduronate-2-Sulfatase Deficiency
|
Attenuated Mps
|
|
Mps 2
|
Severe Mps Ii
|
|
Mpsii
|
Mucopolysaccharidosis Type 2, Attenuated Form
|
|
Hunter Syndrome Type B
|
Iduronate 2-Sulfatase Deficiency Type B
|
|
Mps2b
|
Mpsiib
|
|
Mucopolysaccharidosis Type 2b
|
Mucopolysaccharidosis Type Ii, Attenuated Form
|
|
Mucopolysaccharidosis Type Iib
|
Hunter Syndrome Type A
|
|
Iduronate 2-Sulfatase Deficiency Type A
|
Mps2a
|
|
Mpsiia
|
Mucopolysaccharidosis Type 2a
|
|
Mucopolysaccharidosis Type Ii, Severe Form
|
Mucopolysaccharidosis Type Iia
|
|
Mucopolysaccharidosis 2
|
Hunters Syndrome
|
|
Iduronate 2-Sulphatase Deficiency
|
Iduronate Sulfatase Deficiency
|
|
Iduronate Sulphatase Deficiency
|
Sulfo-Iduronate Sulfatase Deficiency
|
|
Sulfoiduronidate Sulfatase Deficiency
|
Sulpho-Iduronate Sulphatase Deficiency
|
|
Sulphoiduronidate Sulphatase Deficiency
|
Mps2 - [Mucopolysaccharidosis 2]
|
|
|
| Canavan Disease |
|
Aspartoacylase Deficiency
|
Aminoacylase 2 Deficiency
|
|
Spongy Degeneration Of Central Nervous System
|
Aspa Deficiency
|
|
Acy2 Deficiency
|
Canavan-Van Bogaert-Bertrand Disease
|
|
Mild Canavan Disease
|
Asp Deficiency
|
|
Spongy Degeneration Of The Central Nervous System
|
Severe Canavan Disease
|
|
Von Bogaert-Bertrand Disease
|
Canavan'S Disease
|
|
Spongy Degeneration Of The Brain
|
Juvenile Canavan Disease
|
|
Infantile Canavan Disease
|
Neonatal Canavan Disease
|
|
CAND
|
Disease, Canavan
|
|
Canavan Disease, Juvenile
|
Canavan Disease, Infantile
|
|
Canavan Disease, Neonatal
|
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
Mucopolysaccharidosis
|
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
|
|
MPSPS
|
Mucopolysaccharidoses
|
|
Mps
|
Mucopolysaccharidosis-Like Plus Disease
|
|
Disorders Of Glycosaminoglycan Metabolism
|
|
|
| Mucopolysaccharidosis, Type Iiia |
|
Mucopolysaccharidosis Type Iiia
|
MPS3A
|
|
Mps Iiia
|
Sanfilippo Syndrome A
|
|
Heparan Sulfate Sulfatase Deficiency
|
Sulfamidase Deficiency
|
|
Heparan Sulfamidase Deficiency
|
Mpsiiia
|
|
Mucopolysaccharidosis Type 3a
|
Sanfilippo Syndrome Type A
|
|
Mucopolysaccharidosis Iii-A
|
Heparane Sulfamidase Deficiency
|
|
Mps 3a
|
Mucopoly-Saccharidosis Type 3a
|
|
Mps Iii-A
|
Mucopolysaccharidosis 3a
|
|
Mucopolysaccharidosis Iii
|
|
|
| Metachromatic Leukodystrophy |
|
Arylsulfatase A Deficiency
|
MLD
|
|
Arsa Deficiency
|
Sulfatide Lipidosis
|
|
Metachromatic Leukoencephalopathy
|
Cerebral Sclerosis, Diffuse, Metachromatic Form
|
|
Cerebroside Sulfatase Deficiency
|
Leukodystrophy, Metachromatic
|
|
Pseudoarylsulfatase A Deficiency
|
Leukodystrophy Metachromatic
|
|
Sulfatidosis
|
Metachromatic Leukodystrophy, Late Infantile
|
|
Metachromatic Leukodystrophy Variant
|
Deficiency Of Cerebroside-Sulfatase
|
|
Scholz Cerebral Sclerosis
|
Sulfatide Lipoidosis
|
|
Cerebral Sclerosis Diffuse Metachromatic Form
|
Arylsulfatase A Deficiency Disease
|
|
Cerebroside Sulphatase Deficiency Disease
|
Greenfield Disease
|
|
Metachromatic Leukodystrophy, Adult
|
Metachromatic Leukodystrophy, Juvenile
|
|
Leukodystrophy Metachromatic Adult
|
Leukodystrophy Metachromatic Juvenile
|
|
Leukodystrophy Metachromatic Late Infantile
|
Metachromatic Leukodystrophy, Adult Type
|
|
Metachromatic Leukodystrophy, Juvenile Type
|
Metachromatic Leukodystrophy, Infant
|
|
Greenfield'S Disease
|
|
|
| Lipid Storage Disease |
|
Lipoidosis
|
Inborn Lipid Storage Disorder
|
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
|
Lipidoses
|
|
|
| Tay-Sachs Disease |
|
Hexosaminidase A Deficiency
|
TSD
|
|
Hexa Deficiency
|
Gm2 Gangliosidosis, Type 1
|
|
Hexosaminidase Alpha-Subunit Deficiency
|
Gm2-Gangliosidosis, Several Forms
|
|
Gm2-Gangliosidosis, B, B1, Ab Variant
|
B Variant Gm2 Gangliosidosis
|
|
Sphingolipidosis, Tay-Sachs
|
Gm2-Gangliosidosis, Type I
|
|
B Variant Gm2-Gangliosidosis
|
Hex A Pseudodeficiency
|
|
Hexa Disorders
|
Beta-Hexosaminidase A Deficiency
|
|
Gm2 Gangliosidosis, Type I
|
Gangliosidosis Gm2 , Type 1
|
|
Gm2 Gangliosidosis, B, B1 Variant
|
Gm2-Gangliosidosis 1
|
|
GM2G1
|
Gm2-Gangliosidosis B Variant
|
|
Tay-Sachs Disease Pseudo-Ab Variant
|
Tay-Sachs Disease Variant B1
|
|
Gangliosidoses, Gm2
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
