| 疾病名称 |
别名 |
|
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Neuronal Ceroid Lipofuscinosis 5
|
CLN5
|
|
Cln5 Disease
|
Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis
|
|
Vlincl
|
Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset
|
|
Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset
|
Cln5 Disease, Adult
|
|
Cln5 Disease, Juvenile
|
Cln5 Disease, Late Infantile
|
|
Neuronal Ceroid Lipofuscinosis Finnish Variant
|
Finnish Vlincl
|
|
Jansky-Bielschowsky Disease
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
|
Neuronal Ceroid Lipofuscinosis, Late-Infantile
|
Finnish
|
|
Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset
|
Lipofuscinosis, Ceroid, Neuronal, Type 5
|
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
Ceroid Lipofuscinosis, Neuronal, 6
|
|
|
| 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
|
|
|
| Neuronal Ceroid-Lipofuscinoses |
|
Infantile Neuronal Ceroid Lipofuscinosis
|
Santavuori Disease
|
|
Hagberg-Santavuori Disease
|
Incl
|
|
Infantile Ncl
|
Santavuori-Haltia Disease
|
|
Neuronal Ceroid-Lipofuscinosis, Infantile
|
Lipofuscin Storage Disease
|
|
Neuronal Ceroid Lipofuscinoses
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
|
| 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
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 6a |
|
Neuronal Ceroid Lipofuscinosis 6
|
CLN6
|
|
Vlincl
|
Cln6 Disease
|
|
Ceroid Lipofuscinosis, Neuronal, 6
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
|
CLN6A
|
Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant
|
|
Neuronal Ceroid Lipofuscinosis 6a
|
Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset
|
|
Cln6 Disease, Adult Kufs Type A
|
Cln6 Disease, Late Infantile
|
|
Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant
|
Ceroid Lipofuscinosis Neuronal 6
|
|
Cln6-Related Neuronal Ceroid Lipofuscinosis
|
Late Infantile Neuronal Ceroid Lipofuscinosis
|
|
Jansky-Bielschowsky Disease
|
Lincl
|
|
Late Infantile Ncl
|
Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset
|
|
Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis
|
Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 6
|
Ceroid Lipofuscinosis, Neuronal, 5
|
|
|
| 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
|
|
|
| Peripheral Retinal Degeneration |
|
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
| 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
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Neuronal Ceroid Lipofuscinosis 11
|
CLN11
|
|
Cln11 Disease
|
Grn-Related Neuronal Ceroid-Lipofuscinosis
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 11
|
|
|
| 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
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 13 |
|
Neuronal Ceroid Lipofuscinosis 13
|
CLN13
|
|
Neuronal Ceroid Lipofuscinosis 13 Kufs Type
|
Cln13 Disease
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 13
|
|
|
| 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
|
|
|
| Visual Epilepsy |
|
Seizures
|
Epilepsy, Visual
|
|
Visual Seizure
|
Acute Symptomatic Seizure
|
|
Provoked Seizure
|
Nonepileptic Seizure Disorder
|
|
Uncontrolled Seizures
|
Seizure Nos
|
|
Fits Nos
|
Onset Seizure Nos
|
|
Seizure Disturbance
|
|
|
| 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
|
|
|
| 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
|
|
|
| Waardenburg Syndrome, Type 4a |
|
Waardenburg-Shah Syndrome
|
Shah-Waardenburg Syndrome
|
|
Waardenburg Syndrome Type 4a
|
WS4A
|
|
Ws4
|
Waardenburg Syndrome Type 4
|
|
Waardenburg Syndrome Type Iva
|
Waardenburg Syndrome With Hirschsprung Disease Type 4a
|
|
Hirschsprung Disease With Pigmentary Anomaly
|
Waardenburg-Hirschsprung Syndrome
|
|
Waardenburg Syndrome, Type Iva
|
Waardenburg Syndrome With Hirschsprung Disease, Type 4a
|
|
Waardenburg-Hirschsprung Disease
|
Waardenburg Syndrome, Type 4
|
|
Waardenburg Syndrome 4a
|
|
|
| Unverricht-Lundborg Syndrome |
|
Unverricht-Lundborg Disease
|
Epm1
|
|
Myoclonic Epilepsy Of Unverricht And Lundborg
|
Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
|
|
Unverricht - Lundborg Disease
|
Unverricht'S Disease
|
|
Epilepsy, Progressive Myoclonic Type 1
|
Epilepsy, Progressive Myoclonus 1
|
|
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy
|
Baltic Myoclonic Epilepsy
|
|
Baltic Myoclonus
|
Baltic Myoclonus Epilepsy
|
|
Lundborg-Unverricht Syndrome
|
Mediterranean Myoclonic Epilepsy
|
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Progressive Myoclonus Epilepsy 1
|
Uld
|
|
Myoclonic Epilepsies, Progressive
|
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
| 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
|
|
|
| Retinal Degeneration |
|
|
| 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
|
|
|
| Myoclonic Epilepsy Of Lafora |
|
Lafora Disease
|
Epilepsy, Progressive Myoclonic 2b
|
|
EPM2
|
Melf
|
|
Epilepsy, Progressive Myoclonic 2a
|
Epm2a
|
|
Lafora'S Disease
|
Lafora Body Disease
|
|
Lbd
|
Epilepsy, Progressive Myoclonic, 2a
|
|
Lafora Progressive Myoclonic Epilepsy
|
Epilepsy Progressive Myoclonic 2
|
|
Lafora Body Disorder
|
Pme Type 2
|
|
Progressive Myoclonic Epilepsy Type 2
|
Progressive Myoclonus Epilepsy Type 2
|
|
Epilepsy, Progressive Myoclonic 2
|
Epm2b
|
|
Ld
|
Progressive Myoclonic Epilepsy 2
|
|
Progressive Myoclonic Epilepsy 2a
|
Progressive Myoclonic Epilepsy 2b
|
|
Progressive Myoclonic Epilepsy Lafora Type
|
Epilepsy, Myoclonic, Of Lafora
|
|
|
| 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
|
|
|
| Lipid Storage Disease |
|
Lipoidosis
|
Inborn Lipid Storage Disorder
|
|
Lipoid Storage Diseas
|
Lipid Storage Diseases
|
|
Lipidoses
|
|
|
| Early Myoclonic Encephalopathy |
|
Myoclonic Epilepsy
|
Myoclonic Seizure
|
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
| Niemann-Pick Disease, Type C1 |
|
Niemann-Pick Disease, Type C
|
NPC1
|
|
Niemann-Pick Disease, Type D
|
Niemann-Pick Disease Type C1
|
|
Niemann-Pick Disease With Cholesterol Esterification Block
|
Niemann-Pick Disease, Subacute Juvenile Form
|
|
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
|
Npc
|
|
Niemann-Pick Disease, Chronic Neuronopathic Form
|
Niemann-Pick Disease Without Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease Type C
|
Niemann-Pick Disease Type D
|
|
Niemann-Pick C1 Disease
|
Niemann-Pick Disease C1
|
|
Niemann-Pick Disease Chronic Neuronopathic Form
|
Niemann-Pick Disease Nova Scotian Type
|
|
Niemann-Pick Disease Subacute Juvenile Form
|
Niemann-Pick Disease Type Ii
|
|
Niemann-Picks Disease Type C
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
