疾病名称 |
别名 |
|
Developmental And Epileptic Encephalopathy 7 |
Epileptic Encephalopathy, Early Infantile, 7
|
DEE7
|
Eiee7
|
Kcnq2-Related Epileptic Encephalopathy
|
Kcnq2-Related Neonatal Epileptic Encephalopathy
|
Developmental And Epileptic Encephalopathy, 7
|
Early Infantile Epileptic Encephalopathy 7
|
Kcnq2-Nee
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile, Type 7
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
|
Seizures, Benign Familial Neonatal, 1 |
Myokymia
|
BFNS1
|
Seizures, Benign Neonatal, 1
|
Myokymia With Neonatal Epilepsy
|
Seizures, Benign Familial Neonatal 1
|
Benign Familial Neonatal Convulsions 1
|
Benign Neonatal Epilepsy 1
|
Benign Neonatal Epilepsy 1 And/Or Myokymia
|
Benign Neonatal Epilepsy 1 With Myokymia
|
Benign Neonatal Epilepsy Atypical Severe
|
Bfnc/Myokymia Syndrome
|
Bfnc1
|
Convulsions Benign Familial Neonatal 1 With Myokymia
|
Ebn1
|
Myokymia Isolated
|
Epilepsy, Benign Neonatal, 1, And/Or Myokymia
|
Seizures, Benign Neonatal, Type 1
|
|
|
Kcnq2-Related Disorders |
|
|
Developmental And Epileptic Encephalopathy 1 |
Epileptic Encephalopathy, Early Infantile, 1
|
Infantile Epileptic-Dyskinetic Encephalopathy
|
DEE1
|
Eiee1
|
Issx1
|
Xmesid
|
X-Linked Infantile Spasm Syndrome 1
|
X-Linked Infantile Spasm Syndrome
|
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
|
Developmental And Epileptic Encephalopathy, 1
|
Infantile Epileptic Dyskinetic Encephalopathy
|
Infantile Spasm Syndrome, X-Linked 1
|
West Syndrome, X-Linked
|
Ohtahara Syndrome, X-Linked
|
Early Infantile Epileptic Encephalopathy 1
|
Early Infantile Epileptic Encephalopathy-1
|
Issx
|
X-Linked Ohtahara Syndrome
|
X-Linked West Syndrome
|
Infantile Spasm Syndrome X-Linked 1
|
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity
|
Ohtahara Syndrome X-Linked
|
West Syndrome X-Linked
|
Encephalopathy, Epileptic, Early Infantile, Type 1
|
|
|
Kcnq3-Related Disorders |
|
|
Seizures, Benign Familial Neonatal, 2 |
BFNS2
|
Bfnc2
|
Convulsions, Benign Familial Neonatal, 2
|
Seizures, Benign Neonatal, 2
|
Seizures, Benign Familial Neonatal 2
|
Benign Familial Neonatal Convulsions Type 2
|
Benign Neonatal Epilepsy 2
|
Ebn2
|
Epilepsy, Benign Neonatal, Type 2
|
Seizures, Neonatal, Benign, Familial, Type 2
|
Epilepsy, Benign Neonatal, 2
|
|
|
Developmental And Epileptic Encephalopathy |
Encephalopathy, Developmental And Epileptic
|
|
|
Seizures, Benign Familial Infantile, 3 |
Bfnis
|
Benign Familial Neonatal-Infantile Seizures
|
BFIS3
|
Bfic3
|
Seizures, Benign Familial Neonatal-Infantile
|
Convulsions, Benign Familial Infantile, 3
|
Benign Familial Infantile Seizures 3
|
Benign Familial Infantile Seizures, 3
|
Benign Familial Infantile Convulsions
|
Convulsions Benign Familial Neonatal
|
Epilepsy, Benign Neonatal-Infantile
|
Benign Neonatal-Infantile Epilepsy
|
Benign Familial Infantile Convulsions 3
|
Benign Familial Neonatal-Infantile Epilepsy
|
Familial Benign Neonatal Epilepsy
|
|
|
Benign Familial Neonatal Epilepsy |
Familial Neonatal Seizures
|
Bfns
|
Benign Familial Neonatal Convulsions
|
Benign Familial Neonatal Seizures
|
Epilepsy Benign Neonatal Familial
|
Familial Benign Neonatal Convulsions
|
Benign Neonatal Familial Convulsions
|
Familial Benign Neonatal Epilepsy
|
Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
|
|
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
|
|
|
Benign Familial Infantile Epilepsy |
Benign Familial Infantile Seizures
|
Bfie
|
Benign Familial Infantile Convulsion
|
Bfic
|
Bfis
|
Benign Familial Infantile Convulsions
|
Familial Benign Neonatal Epilepsy
|
Watanabe-Vigevano Syndrome
|
|
|
Developmental And Epileptic Encephalopathy 14 |
Malignant Migrating Partial Seizures Of Infancy
|
Eiee14
|
Epilepsy Of Infancy With Migrating Focal Seizures
|
Mmpsi
|
DEE14
|
Epileptic Encephalopathy, Early Infantile, 14
|
Early Infantile Epileptic Encephalopathy 14
|
Malignant Migrating Partial Epilepsy Of Infancy
|
Migrating Partial Epilepsy Of Infancy
|
Migrating Partial Seizures Of Infancy
|
Mmpei
|
Mpei
|
Mpsi
|
Malignant Migrating Focal Seizures Of Infancy
|
Migrating Partial Seizures In Infancy
|
Developmental And Epileptic Encephalopathy, 14
|
Encephalopathy, Epileptic, Early Infantile, Type 14
|
|
|
Ohtahara Syndrome |
|
|
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
|
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
Benign Neonatal Seizures |
Benign Neonatal Epilepsy
|
Benign Familial Neonatal Seizures
|
Benign Neonatal Convulsions
|
Benign Familial Neonatal Convulsions
|
Benign Familial Neonatal Epilepsy
|
Bfne
|
Bfns
|
Seizures, Benign Neonatal
|
Neonatal Convulsions Benign
|
Epilepsy, Benign Neonatal
|
Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
Familial Benign Neonatal Epilepsy
|
|
|
Neonatal Period Electroclinical Syndrome |
|
|
Epicanthus |
|
|
Epilepsy, Idiopathic Generalized |
Idiopathic Generalized Epilepsy
|
Generalised Epilepsy
|
Epilepsy, Generalized
|
EIG
|
Ige
|
Epilepsy, Idiopathic Generalized, Susceptibility To, 1
|
Epilepsy, Idiopathic Generalized 1
|
Epilepsy, Idiopathic Generalized, Susceptibility To
|
Epilepsy, Idiopathic, Generalized
|
Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
|
|
|
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
|
|
|
Status Epilepticus |
Grand Mal Status Epilepticus
|
Grand Mal Status
|
Gcse
|
Generalized Convulsive Status Epilepticus
|
Se
|
Epilepsy With Status Epilepticus
|
|
|
Neuroblastoma |
Nb
|
Neuroblastoma, Susceptibility To
|
Neuroblastomas
|
Central Neuroblastoma
|
|
|
Infancy Electroclinical Syndrome |
|
|
Epilepsy, Pyridoxine-Dependent |
Pyridoxine-Dependent Epilepsy
|
PDE
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
EPD
|
Aasa Dehydrogenase Deficiency
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
Deficiency Of Glutamate Decarboxylase
|
|
|
Childhood Electroclinical Syndrome |
|
|
Landau-Kleffner Syndrome |
Acquired Epileptic Aphasia
|
Lks
|
Acquired Aphasia With Convulsive Disorder
|
Acquired Epileptiform Aphasia
|
Landau Kleffner Syndrome
|
Childhood Epileptic Aphasia
|
|
|
Long Qt Syndrome |
Romano-Ward Syndrome
|
Long Q-T Syndrome
|
Lqt
|
Qt Syndrome, Long
|
Congenital Long Qt Syndrome
|
Familial Long Qt Syndrome
|
|
|
Combined Oxidative Phosphorylation Deficiency 13 |
COXPD13
|
Combined Oxidative Phosphorylation Defect Type 13
|
Combined Oxidative Phosphorylation Deficiency, Type 13
|
|
|
Episodic Ataxia, Type 1 |
Episodic Ataxia Type 1
|
Episodic Ataxia/Myokymia Syndrome
|
EA1
|
Episodic Ataxia With Myokymia
|
Eam
|
Ataxia, Episodic, With Myokymia
|
Aem
|
Paroxysmal Ataxia With Neuromyotonia, Hereditary
|
Myokymia With Periodic Ataxia
|
Episodic Ataxia 1
|
Aemk
|
Ea-1
|
Paroxysmal Ataxia With Neuromyotonia
|
Myokymia Isolated 1
|
MK1
|
Ataxia, Episodic, Type 1
|
Continuous Muscle Fiber Activity, Hereditary
|
Isaacs Syndrome
|
|
|
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
Adnfle
|
Autosomal Dominant Sleep-Related Hypermotor Epilepsy
|
Enfl
|
Benign Familial Infantile Seizures 6
|
Benign Familial Infantile Seizures, 6
|
Nocturnal Frontal Lobe Epilepsy-4
|
Enfl1
|
Epilepsy, Nocturnal Frontal Lobe, 1
|
Epilepsy, Nocturnal Frontal Lobe, Type 1
|
|
|
Partial Motor Epilepsy |
Epilepsy, Partial, Motor
|
Epilepsy, Focal Motor
|
Focal Motor Seizure
|
|
|
Developmental And Epileptic Encephalopathy 21 |
DEE21
|
Epileptic Encephalopathy, Early Infantile, 21
|
Eiee21
|
Developmental And Epileptic Encephalopathy, 21
|
Early Infantile Epileptic Encephalopathy 21
|
Encephalopathy, Epileptic, Early Infantile, Type 21
|
|
|
Lennox-Gastaut Syndrome |
Lennox Syndrome
|
Encephalopathy Of Childhood
|
Epileptic Encephalopathy Lennox-Gastaut Type
|
Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
|
Lgs
|
|
|
Generalized Epilepsy With Febrile Seizures Plus |
Gefs+
|
Genetic Epilepsy With Febrile Seizures Plus
|
Generalized Epilepsy With Febrile Seizures-Plus
|
Genetic Epilepsy With Febrile Seizures-Plus
|
Epilepsy, Generalized, With Febrile Seizures Plus
|
|
|
Dravet Syndrome |
Severe Myoclonic Epilepsy Of Infancy
|
Severe Myoclonic Epilepsy In Infancy
|
Smei
|
Epileptic Encephalopathy, Early Infantile, 6
|
DRVT
|
Developmental And Epileptic Encephalopathy 6a
|
Dee6a
|
Eiee6
|
Developmental And Epileptic Encephalopathy, 6
|
Dee6
|
Developmental And Epileptic Encephalopathy 6
|
Early Infantile Epileptic Encephalopathy 6
|
Myoclonic Epilepsy, Severe, Of Infancy
|
Sme
|
Severe Myoclonus Epilepsy Of Infancy
|
Borderline Smei
|
Smeb
|
Smeb-M
|
Smeb-O
|
Smeb-Sw
|
Smei-Borderland
|
Smei-Borderland More Than One Feature
|
Smei-Borderland-Myoclonic Seizures
|
Smei-Borderland-Spike Wave
|
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures
|
ICEGTC
|
Infantile Severe Myoclonic Epilepsy
|
Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
|
|
|
Episodic Ataxia |
Isaacs Syndrome
|
Neuromyotonia
|
Isaacs' Syndrome
|
Acquired Neuromyotonia
|
Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
Isaacs-Mertens Syndrome
|
Ea Syndrome
|
Episodic Ataxia Syndrome
|
Isaac Syndrome
|
Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
Peripheral Nerve Hyperexcitability
|
Ea
|
Peripheral Nerve Hyperexcitability Syndrome
|
Ataxia, Episodic
|
Isaacs Neuromyotonia
|
Continuous Muscle Fibre Activity
|
|
|
Schuurs-Hoeijmakers Syndrome |
SHMS
|
Pacs1-Related Syndrome
|
Mrd17
|
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
|
Intellectual Developmental Disorder, Autosomal Dominant 17
|
Autosomal Dominant Intellectual Disability-17
|
Autosomal Dominant Mental Retardation 17
|
Pacs1 Syndrome
|
Mental Retardation, Autosomal Dominant 17
|
|
|
Early Onset Absence Epilepsy |
|
|
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
|
|
|
Congenital Disorder Of Glycosylation, Type Iim |
CDG2M
|
Congenital Disorder Of Glycosylation Type Iim
|
Slc35a2-Cdg
|
Epileptic Encephalopathy, Early Infantile, 22
|
Cdg-Iim
|
Cdg Iim
|
Cdgiim
|
Developmental And Epileptic Encephalopathy 22
|
Eiee22
|
Congenital Disorder Of Glycosylation Type 2m
|
Cdg Syndrome Type Iim
|
Dee22
|
Slc35a2-Congenital Disorder Of Glycosylation
|
Epileptic Encephalopathy, Early Infantile, 22
|
Eiee22
|
Congenital Disorder Of Glycosylation 2m
|
Congenital Disorder Of Glycosylation X-Linked
|
Glycosylation, Congenital Disorder Of, Type Iim
|
|
|
Combined Oxidative Phosphorylation Deficiency 1 |
Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1
|
COXPD1
|
Early Fatal Progressive Hepatoencephalopathy
|
Hepatoencephalopathy Due To Coxpd1
|
Combined Oxidative Phosphorylation Deficiency, Type 1
|
Hepatoencephalopathy, Early Fatal Progressive
|
Hepatoencephalopathy Early Fatal Progressive
|
|
|
Photosensitive Epilepsy |
Pse
|
Photogenic Epilepsy
|
Photoparoxysmal Response
|
Reflex Epilepsy, Photosensitive
|
Photoparoxysmal Response 1
|
|
|
Adolescence-Adult Electroclinical Syndrome |
|
|
Focal Epilepsy |
Partial Epilepsy
|
Epilepsies, Partial
|
Localisation-Related Epilepsy
|
|
|
Developmental And Epileptic Encephalopathy 9 |
Efmr
|
Epileptic Encephalopathy, Early Infantile, 9
|
Eiee9
|
DEE9
|
Juberg-Hellman Syndrome
|
Epilepsy, Female-Restricted, With Mental Retardation
|
Developmental And Epileptic Encephalopathy, 9
|
Early Infantile Epileptic Encephalopathy 9
|
Early Infantile Female-Limited Epilecptic Encephalopathy
|
Female Restricted Epilepsy With Mental Retardation
|
Juberg Hellman Syndrome
|
Pcdh19-Related Female-Limited Epilepsy
|
Epilepsy And Intellectual Disability Limited To Females
|
Epilepsy, Female Restricted, With Intellectual Disability
|
Familial Epilepsy And Intellectual Disability Limited To Females
|
Female Restricted Epilepsy With Intellectual Delays
|
Pcdh19-Related Fle
|
Pcdh19-Related Infantile Epileptic Encephalopathy
|
Female Restricted Epilepsy With Intellectual Disability
|
Encephalopathy, Epileptic, Early Infantile, Type 9
|
|
|
Epilepsy With Generalized Tonic-Clonic Seizures |
Tonic-Clonic Epilepsy
|
Epileptic Seizures, Tonic-Clonic
|
Grand Mal Epilepsy
|
Epilepsy, Tonic-Clonic
|
|
|
Epilepsy, Myoclonic Juvenile |
Juvenile Myoclonic Epilepsy
|
Janz Syndrome
|
Jme
|
Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
|
EJM
|
Myoclonic Epilepsy, Juvenile
|
Petit Mal, Impulsive
|
Myoclonic Epilepsy, Juvenile 1
|
Myoclonic Epilepsy, Juvenile, 1
|
Adolescent Myoclonic Epilepsy
|
Juvenile Myoclonus Epilepsy
|
Juvenile Myoclonic Epilepsy 1
|
EJM1
|
Petit Mal Impulsive
|
Susceptibility To Juvenile Myoclonic Epilepsy 1
|
Myoclonic Epilepsy Juvenile
|
Epilepsy, Myoclonic, Juvenile
|
Myoclonic Epilepsy Of Janz
|
Jme - [Juvenile Myoclonic Epilepsy]
|
|
|
Childhood Absence Epilepsy |
Pyknolepsy
|
Petit Mal Epilepsy
|
Absence Seizures
|
Absence Seizure
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
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
|
|
|
Episodic Kinesigenic Dyskinesia 1 |
Paroxysmal Kinesigenic Choreoathetosis
|
Paroxysmal Kinesigenic Dyskinesia
|
Dystonia 10
|
Familial Paroxysmal Kinesigenic Dyskinesia
|
Episodic Kinesigenic Dyskinesia
|
EKD1
|
Pkc
|
Pkd
|
Dyt10
|
Familial Pkd
|
Paroxysmal Kinesigenic Choreathetosis
|
Familial Paroxysmal Dystonia
|
Dystonia, Familial Paroxysmal
|
Dyt-Prrt2
|
Dystonia, Type 10
|
|
|
Long Qt Syndrome 1 |
Romano-Ward Syndrome
|
LQT1
|
Ward-Romano Syndrome
|
Rws
|
Ventricular Fibrillation With Prolonged Qt Interval
|
Wrs
|
Long Qt Syndrome 1, Acquired, Susceptibility To
|
Long Qt Syndrome 1, Acquired
|
Romano-Ward Long Qt Syndrome
|
Long Qt Syndrome Type 1
|
Long Qt Syndrome-1
|
Acquired Susceptibility To Long Qt Syndrome 1
|
Qt Syndrome, Long, Type 1
|
|
|
Erythromelalgia |
Primary Erythromelalgia
|
Erythermalgia
|
Primary Erythermalgia
|
Mitchell Disease
|
Familial Erythromelalgia
|
|
|
Glycine Encephalopathy |
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
NKH
|
GCE
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
Glycine Synthase Deficiency
|
Nka
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
Nonketotic Hyperglycinaemia
|
|
|
Progressive Myoclonus Epilepsy |
Pme
|
Progressive Myoclonic Epilepsy
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
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
|
|
|
Migraine With Or Without Aura 1 |
Migraine
|
Migraine With Or Without Aura, Susceptibility To, 1
|
Migraine Disorder
|
Migraine Variant
|
Migraines
|
Migraine Disorders
|
Mgr1
|
Mgau
|
Ma
|
Migraine With Or Without Aura
|
Classic Migraine
|
Common Migraine
|
Disorder, Migraine
|
Headache Migraine
|
Headache Migrainous
|
Migraine Headache
|
Migraine Syndrome
|
Headache Including Migraine
|
Migraine, Susceptibility To
|
|
|
Familial Atrial Fibrillation |
Atrial Fibrillation, Familial
|
Atfb
|
Atrial Fibrillation Autosomal Dominant
|
Autosomal Dominant Atrial Fibrillation
|
Auricular Fibrillation
|
Atrial Fibrillation
|
Atrial Fibrillation, Familial, 1
|
|
|
Brugada Syndrome |
Sudden Unexpected Nocturnal Death Syndrome
|
Sudden Unexplained Nocturnal Death Syndrome
|
Bangungut
|
Brugada Type Idiopathic Ventricular Fibrillation
|
Pokkuri Death Syndrome
|
Sunds
|
Idiopathic Ventricular Fibrillation, Brugada Type
|
Sudden Unexplained Death
|
Dream Disease
|
Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
|
Sudden Unexplained Death Syndrome
|
Suds
|
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
|
|
|
Nervous System Disease |
Abnormality Of The Nervous System
|
Nervous System Diseases
|
Nervous System Disorder
|
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|