| 疾病名称 |
别名 |
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Chromosome 17p13.3, Centromeric, Duplication Syndrome |
|
Chromosome 17p13.3 Duplication Syndrome
|
17p13.3 Duplication Syndrome
|
|
17p13.3 Microduplication Syndrome
|
Trisomy 17p13.3
|
|
Chromosome 17p13.3 Centromeric Duplication Syndrome
|
Dup(17)(P13.3)
|
|
|
| Chromosome 15q11.2 Deletion Syndrome |
|
15q11.2 Microdeletion Syndrome
|
15q11.2 Bp1-Bp2 Microdeletion Syndrome
|
|
Del(15)(Q11.2)
|
Monosomy 15q11.2
|
|
15q11.2 Microdeletion
|
Chromosome 15q11.2 Deletion
|
|
Chromosome 15q11.2 Microdeletion
|
Chromosome Deletion Syndrome 15q11.2
|
|
Microdeletion 15q11.2
|
Duplication 15q11-Q13 Syndrome
|
|
|
| Cerebellar Hypoplasia |
|
|
| Lissencephaly, X-Linked, 1 |
|
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
|
Xlis
|
|
Lissencephaly, X-Linked
|
LISX1
|
|
Lissencephaly And Agenesis Of Corpus Callosum
|
Subcortical Laminal Heterotopia, X-Linked
|
|
X-Linked Lissencephaly 1
|
X-Linked Lissencephaly
|
|
Double Cortex
|
Xlis1
|
|
Lissencephaly X-Linked
|
Lisx
|
|
X-Linked Lissencephaly Type 1
|
Lissencephaly, X-Linked 1
|
|
Subcortical Band Heterotopia X-Linked
|
SBHX
|
|
Sclh
|
Subcortical Laminar Heterotopia
|
|
Lissencephaly, X-Linked, Type 1
|
Subcortical Band Heterotopia
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Lissencephaly 4 |
|
LIS4
|
Lissencephaly 4 With Microcephaly
|
|
Microlissencephaly
|
Lissencephaly, Type 4
|
|
|
| Hypomelanosis Of Ito |
|
Incontinentia Pigmenti Achromians
|
Nevus Of Ito
|
|
Ipa
|
Ito Hypomelanosis
|
|
Ito
|
Pigmentation Disorders
|
|
HMI
|
Incontinentia Pigmenti, Type I, Formerly
|
|
Ip1, Formerly
|
Bloch-Siemans Syndrome
|
|
Incontinentia Pigmenti Achromians Syndrome
|
Ito'S Nevus
|
|
Incontinentia Pigmenti Type 1
|
Nevi Of Ito
|
|
Nevus Fuscocaeruleus Acromiodeltoideus
|
Bloch Sulzberger Syndrome
|
|
Skin Pigmentation Disorder
|
|
|
| Lissencephaly 10 |
|
|
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
LIS7
|
Lissencephaly 7, With Cerebellar Hypoplasia
|
|
Lissencephaly, Type 7, With Cerebellar Hypoplasia
|
|
|
| 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
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
| Developmental And Epileptic Encephalopathy 76 |
|
DEE76
|
Epileptic Encephalopathy, Early Infantile, 76
|
|
Eiee76
|
Decam
|
|
Developmental And Epileptic Encephalopathy, 76
|
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, And Abnormal Myelination
|
|
Developmental Delay, Epileptic Endephalopathy, Cerebral Atrophy, And Abnormal Myelination
|
Early Infantile Epileptic Encephalopathy 76
|
|
|
| Microlissencephaly |
|
|
| Tubulinopathy |
|
|
| Lissencephaly 3 |
|
LIS3
|
Lissencephaly Due To Tuba1a Mutation
|
|
Lissencephaly Type 3
|
Lissencephaly, Type 3
|
|
|
| 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
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Potocki-Lupski Syndrome |
|
PTLS
|
Chromosome 17p11.2 Duplication Syndrome
|
|
17p11.2 Microduplication Syndrome
|
Duplication 17p11.2 Syndrome
|
|
Trisomy 17p11.2
|
Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
|
|
17p11.2 Duplication Syndrome
|
Dup(17)(P11.2p11.2)
|
|
Pls
|
Chromosome 17, Trisomy 17p11 2
|
|
|
| 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
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Physical Disorder |
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Chromosome 1p36 Deletion Syndrome |
|
1p36 Deletion Syndrome
|
Deletion 1p36
|
|
Monosomy 1p36
|
Subtelomeric 1p36 Deletion
|
|
Monosomy 1p36 Syndrome
|
Distal Monosomy 1p36
|
|
Del(1)(P36)
|
Deletion 1pter
|
|
Monosomy 1pter
|
|
|
