| 疾病名称 |
别名 |
|
| Fragile X Syndrome |
|
FXS
|
Martin-Bell Syndrome
|
|
Fraxa Syndrome
|
Marker X Syndrome
|
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
|
Fraxe Syndrome
|
|
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| Angelman Syndrome |
|
AS
|
Happy Puppet Syndrome
|
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
| 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
|
|
|
| Prader-Willi Syndrome |
|
Prader-Labhart-Willi Syndrome
|
PWS
|
|
Willi-Prader Syndrome
|
Prader-Willi Syndrome Due To Translocation
|
|
Prader-Willi Syndrome Due To Imprinting Mutation
|
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
|
|
Prader Willi Syndrome
|
Upd(15)Mat
|
|
|
| Cataract 25 |
|
Cataract, Central Saccular, With Sutural Opacities
|
CTRCT25
|
|
Ccsso
|
Cataract, Central Pouch-Like, With Sutural Opacities
|
|
Central Pouch-Like Cataract With Sutural Opacities
|
Central Saccular Cataract With Sutural Opacities
|
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Early-Onset Cataract With Y-Shaped Suture Opacities
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
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| Dyscalculia |
|
Disorder Of Arithmetical Skills
|
Mathematics Disorder
|
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Developmental Arithmetic Disorder
|
|
|
| Developmental And Epileptic Encephalopathy 65 |
|
DEE65
|
Epileptic Encephalopathy, Early Infantile, 65
|
|
Eiee65
|
Developmental And Epileptic Encephalopathy, 65
|
|
Early Infantile Epileptic Encephalopathy 65
|
Encephalopathy, Epileptic, Early Infantile, Type 65
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
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
|
|
|
| Spastic Paraplegia 6, Autosomal Dominant |
|
SPG6
|
Fsp3
|
|
Hereditary Spastic Paraplegia 6
|
Autosomal Dominant Spastic Paraplegia Type 6
|
|
Spastic Paraplegia 6
|
Familial Spastic Paraplegia Autosomal Dominant 3
|
|
Familial Spastic Paraplegia, Autosomal Dominant, 3
|
Autosomal Dominant Familial Spastic Paraplegia Type 3
|
|
Autosomal Dominant Spastic Paraplegia 6
|
Spastic Paraplegia-6
|
|
Paraplegia, Spastic, Type 6
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Chromosome 22q11.2 Duplication Syndrome |
|
Chromosome 22q11.2 Microduplication Syndrome
|
22q11.2 Microduplication Syndrome
|
|
22q11.2 Duplication Syndrome
|
Duplication 22q11.2
|
|
Trisomy 22q11.2
|
22q11.2 Duplication
|
|
Dup(22)(Q11)
|
|
|
| Atrial Septal Defect 1 |
|
ASD1
|
Atrial Heart Septal Defect 1
|
|
Asd
|
|
|
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Fxtas Syndrome
|
Fragile X Tremor/Ataxia Syndrome
|
|
Fxtas
|
|
|
| Learning Disability |
|
Learning Disabilities
|
Learning Disorders
|
|
Academic Skill Disorder
|
Learning Disorder
|
|
|
| Premature Ovarian Failure 1 |
|
Ovarian Failure, Premature
|
Fmr1-Related Primary Ovarian Insufficiency
|
|
Fragile X-Associated Primary Ovarian Insufficiency
|
POF1
|
|
Pofx
|
Hypergonadotropic Ovarian Failure, X-Linked
|
|
Pof
|
Primary Ovarian Insufficiency, Fragile X-Associated
|
|
Primary Ovarian Insufficiency 1
|
Ovarian Failure Premature
|
|
Premature Ovarian Failure, X-Linked
|
Fragile X Premature Ovarian Failure
|
|
Fmr1-Related Premature Ovarian Failure
|
Familial Premature Ovarian Failure
|
|
Idiopathic Familial Premature Ovarian Failure
|
Fxpoi
|
|
X-Linked Hypergonadotropic Ovarian Failure
|
Hypergonadotropic Ovarian Failure X-Linked
|
|
Poi
|
Premature Ovarian Failure X-Linked
|
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure-1
|
|
Ovarian Failure, Premature, Type 1
|
Premature Ovarian Failure, Familial
|
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Premature Menopause
|
Primary Hypogonadism
|
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Turner Syndrome
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Specific Developmental Disorder |
|
|
| Velocardiofacial Syndrome |
|
Shprintzen Syndrome
|
VCFS
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Vcf Syndrome
|
|
Shprintzen Vcf Syndrome
|
Vcf-Velocardiofacial Syndrome
|
|
Velo-Cardio-Facial Syndrome
|
Digeorge Syndrome
|
|
22q11 Deletion Syndrome
|
Conotruncal Anomaly Face Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| 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
|
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
| Early Infantile Epileptic Encephalopathy |
|
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
