| 疾病名称 |
别名 |
|
| Epilepsy, Familial Temporal Lobe, 7 |
|
Familial Temporal Lobe Epilepsy 7
|
ETL7
|
|
Epilepsy, Temporal Lobe, Familial, Type 7
|
|
|
| Lissencephaly 2 |
|
Norman-Roberts Syndrome
|
Lissencephaly Syndrome, Norman-Roberts Type
|
|
LIS2
|
Lissencephaly With Cerebellar Hypoplasia
|
|
Lch
|
Lissencephaly Syndrome Norman-Roberts Type
|
|
Norman Roberts Lissencephaly Syndrome
|
Lissencephaly 3
|
|
Lis3
|
Microlissencephaly Type A
|
|
Norman-Roberts Lissencephaly Syndrome
|
Lissencephaly, Type 2
|
|
Cobblestone Lissencephaly
|
|
|
| Synovitis |
|
|
| Arthritis, Sacroiliac |
|
|
| Arthritis |
|
Inflammatory Joint Disease
|
Inflammatory Disorder Of Joint
|
|
|
| Autosomal Dominant Epilepsy With Auditory Features |
|
Adeaf
|
Adlte
|
|
Autosomal Dominant Lateral Temporal Epilepsy
|
Adpeaf
|
|
Autosomal Dominant Lateral Temporal Lobe Epilepsy
|
Partial Epilepsy With Auditory Aura
|
|
Partial Epilepsy With Auditory Features
|
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
|
|
|
| Neuronal Migration Disorders |
|
Abnormality Of Neuronal Migration
|
Malformations Of Cortical Development, Group Ii
|
|
Neuronal Dysmigration Syndromes
|
|
|
| Scoliosis |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
Rolandic Epilepsy
|
Benign Rolandic Epilepsy
|
|
Epilepsy, Rolandic
|
Bcects
|
|
Benign Childhood Epilepsy With Centrotemporal Spike
|
Sylvan Seizures
|
|
Becrs
|
Bects
|
|
Bre
|
Benign Epilepsy Of Childhood With Centrotemporal Spikes
|
|
Benign Familial Epilepsy Of Childhood With Rolandic Spikes
|
Centrotemporal Epilepsy
|
|
|
| Epilepsy, Familial Temporal Lobe, 1 |
|
ETL1
|
Adpeaf
|
|
Adlte
|
Epilepsy, Partial, With Auditory Features
|
|
Autosomal Dominant Partial Epilepsy With Auditory Features
|
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
|
|
Familial Temporal Lobe Epilepsy 1
|
Partial Epilepsy With Auditory Features
|
|
Autosomal Dominant Lateral Temporal Lobe Epilepsy
|
Lateral Temporal Lobe Epilepsy Autosomal Dominant
|
|
Epilepsy, Temporal Lobe, Familial, Type 1
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Cerebellar Hypoplasia |
|
|
| Temporal Lobe Epilepsy |
|
Epilepsy, Temporal Lobe
|
Epilepsy Temporal Lobe
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Bipolar Disorder |
|
Bipolar Depression
|
Manic Disorder
|
|
Depression, Bipolar
|
Bipolar Disorder Manic Phase
|
|
Depressive-Manic Psych.
|
Manic Bipolar Affective Disorder
|
|
Manic Bipolar I Disorder
|
Manic Depression
|
|
Manic Depressive Disorder
|
Mixed Bipolar Disorder
|
|
Bipolar Affective Disorder
|
Bipolar Affective Psychosis
|
|
Bipolar Spectrum Disorder
|
Manic Depressive Illness
|
|
Depression Bipolar
|
Bipolar Disorder, Mixed
|
|
Major Affective Disorder
|
Major Affective Disorder 1
|
|
Major Affective Disorder 2
|
|
|
| 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
|
|
|
| Lissencephaly 1 |
|
LIS1
|
Classic Lissencephaly
|
|
Ils
|
Subcortical Laminar Heterotopia
|
|
Lissencephaly Due To Lis1 Mutation
|
Lissencephaly Sequence, Isolated
|
|
Lissencephaly, Classic
|
Pafah1b1-Related Lissencephaly
|
|
Classical Lissencephaly
|
Lissencephaly Type 1
|
|
Lissencephaly-1
|
Subcortical Band Heterotopia
|
|
Double Cortex
|
Lissencephaly Classic
|
|
Lissencephaly Sequence Isolated
|
Isolated Lissencephaly Sequence
|
|
Type 1 Lissencephaly
|
Lissencephaly Syndrome Type 1
|
|
SBH
|
Sclh
|
|
Lissencephaly, Type 1
|
Type I Lissencephaly
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Otosclerosis |
|
|
| Psychotic Disorder |
|
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
|
Psychotic
|
Mental Disorders
|
|
|
| Frontotemporal Dementia |
|
Pallidopontonigral Degeneration
|
Frontotemporal Lobar Degeneration
|
|
Semantic Dementia
|
FTD
|
|
Frontotemporal Lobe Dementia
|
Multiple System Tauopathy With Presenile Dementia
|
|
Dementia, Frontotemporal
|
Frontotemporal Dementia With Parkinsonism
|
|
Mstd
|
Frontotemporal Lobar Degeneration With Tau Inclusions
|
|
Ftld With Tau Inclusions
|
Dementia, Frontotemporal, With Parkinsonism
|
|
Fldem
|
Ftdp17
|
|
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
|
Ddpac
|
|
Wilhelmsen-Lynch Disease
|
Wld
|
|
Ppnd
|
Dementia, Frontotemporal, With Or Without Parkinsonism
|
|
Semantic Primary Progressive Aphasia
|
Semantic Variant Ppa
|
|
Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
|
Ftld
|
Pick Complex
|
|
Pick Disease Of The Brain
|
Frontotemporal Dementia With Parkinsonism-17
|
|
Grn-Related Frontotemporal Dementia
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Dementia In Fronto-Temporal Lobar Degeneration
|
Ftd - [Frontotemporal Dementia]
|
|
Temple Dementia
|
Frontal Lobe Dementia
|
|
|
| Lissencephaly 10 |
|
|
| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
|
Rett Disorder
|
Rts
|
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
|
Rett'S Syndrome
|
Atypical Rtt
|
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| Dyslexia |
|
|
| Bilateral Frontal Polymicrogyria |
|
|
| Band Heterotopia |
|
Subcortical Band Heterotopia
|
Double Cortex Syndrome
|
|
Subcortical Laminar Heterotopia
|
Double Cortex
|
|
Band Heterotopia Of Brain
|
BH
|
|
Heco
|
Heterotopic Cortex
|
|
Familial Band Heterotopia
|
Dc
|
|
Dc Syndrome
|
Heterotopia, Subcortical Band
|
|
Sbh
|
Sclh
|
|
Bhy
|
|
|
| Spinocerebellar Ataxia 37 |
|
Spinocerebellar Ataxia Type 37
|
SCA37
|
|
Spinocerebellar Ataxia With Altered Vertical Eye Movements
|
|
|
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral Perisylvian Polymicrogyria
|
Polymicrogyria, Bilateral Perisylvian
|
|
Pmgx
|
Perisylvian Syndrome, Congenital Bilateral
|
|
Cbps
|
Congenital Bilateral Perisylvian Syndrome
|
|
Perisylvian Syndrome
|
BPPX
|
|
Bpp
|
|
|
| Mood Disorder |
|
Mood Disorders
|
Episodic Mood Disorder
|
|
|
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
LIS7
|
Lissencephaly 7, With Cerebellar Hypoplasia
|
|
Lissencephaly, Type 7, With Cerebellar Hypoplasia
|
|
|
| Hereditary Lymphedema I |
|
Lymphedema
|
Hereditary Lymphedema Type I
|
|
Congenital Primary Lymphedema
|
Lmph1
|
|
Milroy Disease
|
Nonne-Milroy Lymphedema
|
|
Pcl
|
Lymphedema Hereditary Type 1
|
|
|
| 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
|
|
|
| Lissencephaly, X-Linked, 2 |
|
X-Linked Lissencephaly With Abnormal Genitalia
|
Hydranencephaly With Abnormal Genitalia
|
|
Xlag
|
Xlisg
|
|
X-Linked Lissencephaly With Ambiguous Genitalia
|
LISX2
|
|
Lissencephaly, X-Linked 2
|
X-Linked Lissencephaly 2
|
|
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome
|
Xlag Syndrome
|
|
Lissencephaly, X-Linked, With Ambiguous Genitalia
|
Xlis2
|
|
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies
|
X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
|
|
Xlag Syndrome
|
Lissencephaly X-Linked With Ambiguous Genitalia
|
|
Lissencephaly, X-Linked, Type 2
|
Chromosome Xq26.3 Duplication Syndrome
|
|
|
| Miller-Dieker Lissencephaly Syndrome |
|
Miller-Dieker Syndrome
|
Mds
|
|
MDLS
|
Miller Dieker Syndrome
|
|
Classical Lissencephaly Syndrome
|
Lissencephaly Due To 17p13.3 Deletion
|
|
Monosomy 17p13.3
|
Telomeric Deletion 17p
|
|
Classical Lissencephaly
|
|
|
| Tubulinopathy |
|
|
| Microlissencephaly |
|
|
| Polymicrogyria, Bilateral Frontoparietal |
|
Bilateral Frontoparietal Polymicrogyria
|
BFPP
|
|
Cerebellar Ataxia With Neuronal Migration Defect
|
|
|
| Gene Duplication Disease |
|
Gene Duplication Syndrome
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
| Pontocerebellar Hypoplasia |
|
Pch
|
Congenital Pontocerebellar Hypoplasia
|
|
Opch
|
Hypoplasia, Pontocerebellar
|
|
Pontoneocerebellar Hypoplasia
|
Nonsyndromic Pontocerebellar Hypoplasia
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
|
22q11ds
|
Catch 22
|
|
Digeorge Sequence
|
Microdeletion 22q11.2
|
|
Monosomy 22q11
|
Takao Syndrome
|
|
Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| Attention Deficit-Hyperactivity Disorder |
|
Attention Deficit Hyperactivity Disorder
|
ADHD
|
|
Attention Deficit Disorder
|
Attention Deficit-Hyperactivity Disorder, Susceptibility To
|
|
Attention Deficit Disorder With Hyperactivity
|
Hyperkinetic Disorder
|
|
Hyperactivity Of Childhood
|
Attention-Deficit/Hyperactivity Disorder
|
|
Add
|
Addh
|
|
Attention Deficit
|
Attention Deficit Disorder Of Childhood With Hyperactivity
|
|
Attention Deficit Disorder With Hyperactivity Syndrome
|
Hyperkinetic Syndrome
|
|
Attention-Deficit Hyperactivity Disorder
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
|
Disturbance Of Activity And Attention
|
Disorder Of Activity And Attention
|
|
Adhd - [Attention Deficit Hyperactivity Disorder]
|
Hyperkinetic Disorders
|
|
Disorder Of Activity And Attention With Hyperkinesia
|
Attention Deficit Syndrome With Hyperactivity
|
|
|
