| 疾病名称 |
别名 |
|
| 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
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Neuronal Ceroid Lipofuscinosis 8
|
CLN8
|
|
Cln8 Disease
|
Epilepsy Mental Deterioration Finnish Type
|
|
Northern Epilepsy
|
Cln8 Disease, Epmr
|
|
Cln8 Disease, Northern Epilepsy Variant
|
Cln8 Disease, Late Infantile
|
|
Ceroid Lipofuscinosis Neuronal 8
|
Ncl, Northern Epilepsy Variant
|
|
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant
|
Progressive Epilepsy - Intellectual Disability, Finnish Type
|
|
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
|
Turkish Variant Late Infantile Ncl
|
|
Ceroid Lipofuscinosis, Neuronal 8
|
Lipofuscinosis, Ceroid, Neuronal, Type 8
|
|
Northern Epilepsy Syndrome
|
|
|
| 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
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
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Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
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Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
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Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| 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
|
|
|
| Epilepsy, Idiopathic Generalized 5 |
|
EIG5
|
Epilepsy, Idiopathic Generalized, Susceptibility To, 5
|
|
Idiopathic Generalized Epilepsy 5
|
Epilepsy, Idiopathic Generalized Locus On Chromosome 10
|
|
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 10
|
|
|
| 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
|
|
|
| Combined Oxidative Phosphorylation Deficiency 32 |
|
|
| 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
|
|
|
| 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
|
|
|
| Visual Epilepsy |
|
Seizures
|
Epilepsy, Visual
|
|
Visual Seizure
|
Acute Symptomatic Seizure
|
|
Provoked Seizure
|
Nonepileptic Seizure Disorder
|
|
Uncontrolled Seizures
|
Seizure Nos
|
|
Fits Nos
|
Onset Seizure Nos
|
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Seizure Disturbance
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Neuronal Ceroid Lipofuscinosis 9
|
CLN9
|
|
Cln 9
|
Cln9 Disease
|
|
|
| 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
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
CLN7
|
Neuronal Ceroid Lipofuscinosis 7
|
|
Cln7 Disease
|
Cln7 Disease, Late Infantile
|
|
Mfsd8-Related Neuronal Ceroid Lipofuscinosis
|
Turkish Variant Late Infantile Ncl
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 7
|
|
|
| Kanzaki Disease |
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
|
Naga Deficiency Type 2
|
|
Schindler Disease, Type Ii
|
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
|
|
Schindler Disease Type 2
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset
|
Naga Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset
|
KANZD
|
|
Naga Deficiency Type Ii
|
Schindler Disease Type Ii
|
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
|
Pervasive Development Disorder
|
Autistic Behavior
|
|
Autistic Disorder
|
Autistic
|
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
|
Childhood Autism
|
Kanner Syndrome
|
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| 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
|
|
|
| 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
|
|
|
