| 疾病名称 |
别名 |
|
| Developmental And Epileptic Encephalopathy 32 |
|
DEE32
|
Epileptic Encephalopathy, Early Infantile, 32
|
|
Eiee32
|
Developmental And Epileptic Encephalopathy, 32
|
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Early Infantile Epileptic Encephalopathy 32
|
Encephalopathy, Developmental And Epileptic, Type 32
|
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| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Undetermined Early-Onset Epileptic Encephalopathy
|
Non-Specific Eoee
|
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Undetermined Eoee
|
|
|
| Episodic Ataxia, Type 1 |
|
Episodic Ataxia Type 1
|
Episodic Ataxia/Myokymia Syndrome
|
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EA1
|
Episodic Ataxia With Myokymia
|
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Eam
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Ataxia, Episodic, With Myokymia
|
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Aem
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Paroxysmal Ataxia With Neuromyotonia, Hereditary
|
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Myokymia With Periodic Ataxia
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Episodic Ataxia 1
|
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Aemk
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Ea-1
|
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Paroxysmal Ataxia With Neuromyotonia
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Myokymia Isolated 1
|
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MK1
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Ataxia, Episodic, Type 1
|
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Continuous Muscle Fiber Activity, Hereditary
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Isaacs Syndrome
|
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| Developmental And Epileptic Encephalopathy 1 |
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Epileptic Encephalopathy, Early Infantile, 1
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Infantile Epileptic-Dyskinetic Encephalopathy
|
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DEE1
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Eiee1
|
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Issx1
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Xmesid
|
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X-Linked Infantile Spasm Syndrome 1
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X-Linked Infantile Spasm Syndrome
|
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X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
|
Developmental And Epileptic Encephalopathy, 1
|
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Infantile Epileptic Dyskinetic Encephalopathy
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Infantile Spasm Syndrome, X-Linked 1
|
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West Syndrome, X-Linked
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Ohtahara Syndrome, X-Linked
|
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Early Infantile Epileptic Encephalopathy 1
|
Early Infantile Epileptic Encephalopathy-1
|
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Issx
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X-Linked Ohtahara Syndrome
|
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X-Linked West Syndrome
|
Infantile Spasm Syndrome X-Linked 1
|
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Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity
|
Ohtahara Syndrome X-Linked
|
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West Syndrome X-Linked
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Encephalopathy, Epileptic, Early Infantile, Type 1
|
|
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| West Syndrome |
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Infantile Spasms
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Infantile Spasms Syndrome
|
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Infantile Spasm
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X-Linked Infantile Spasm Syndrome
|
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X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
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Is
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Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
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West'S Syndrome
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Spasms, Infantile
|
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Is -[Infantile Spasm]
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Salaam Spasm
|
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Salaam Tic
|
|
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| Dravet Syndrome |
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Severe Myoclonic Epilepsy Of Infancy
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Severe Myoclonic Epilepsy In Infancy
|
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Smei
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Epileptic Encephalopathy, Early Infantile, 6
|
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DRVT
|
Developmental And Epileptic Encephalopathy 6a
|
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Dee6a
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Eiee6
|
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Developmental And Epileptic Encephalopathy, 6
|
Dee6
|
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Developmental And Epileptic Encephalopathy 6
|
Early Infantile Epileptic Encephalopathy 6
|
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Myoclonic Epilepsy, Severe, Of Infancy
|
Sme
|
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Severe Myoclonus Epilepsy Of Infancy
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Borderline Smei
|
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Smeb
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Smeb-M
|
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Smeb-O
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Smeb-Sw
|
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Smei-Borderland
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Smei-Borderland More Than One Feature
|
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Smei-Borderland-Myoclonic Seizures
|
Smei-Borderland-Spike Wave
|
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Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures
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ICEGTC
|
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Infantile Severe Myoclonic Epilepsy
|
Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
|
|
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| Episodic Ataxia, Type 5 |
|
Episodic Ataxia Type 5
|
EA5
|
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Episodic Ataxia 5
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Ea-5
|
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Ataxia, Episodic, Type 5
|
|
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| Episodic Ataxia, Type 4 |
|
Episodic Ataxia Type 4
|
Periodic Vestibulocerebellar Ataxia
|
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Patx
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EA4
|
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Ataxia, Periodic Vestibulocerebellar
|
|
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| Benign Neonatal Seizures |
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Benign Neonatal Epilepsy
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Benign Familial Neonatal Seizures
|
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Benign Neonatal Convulsions
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Benign Familial Neonatal Convulsions
|
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Benign Familial Neonatal Epilepsy
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Bfne
|
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Bfns
|
Seizures, Benign Neonatal
|
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Neonatal Convulsions Benign
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Epilepsy, Benign Neonatal
|
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Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
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Familial Benign Neonatal Epilepsy
|
|
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| Episodic Ataxia, Type 8 |
|
Episodic Ataxia Type 8
|
EA8
|
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Episodic Ataxia With Slurred Speech
|
|
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| Episodic Ataxia |
|
Isaacs Syndrome
|
Neuromyotonia
|
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Isaacs' Syndrome
|
Acquired Neuromyotonia
|
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Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
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Isaacs-Mertens Syndrome
|
Ea Syndrome
|
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Episodic Ataxia Syndrome
|
Isaac Syndrome
|
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Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
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Peripheral Nerve Hyperexcitability
|
Ea
|
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Peripheral Nerve Hyperexcitability Syndrome
|
Ataxia, Episodic
|
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Isaacs Neuromyotonia
|
Continuous Muscle Fibre Activity
|
|
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| Episodic Ataxia, Type 3 |
|
Episodic Ataxia Type 3
|
EA3
|
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Ataxia, Episodic, With Vertigo And Tinnitus
|
Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome
|
|
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| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
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| Axonal Neuropathy |
|
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| Spinocerebellar Ataxia 13 |
|
Spinocerebellar Ataxia Type 13
|
SCA13
|
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Autosomal Dominant Cerebellar Ataxia With Intellectual Disability
|
Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability
|
|
Spinocerebellar Ataxia-13
|
Ataxia, Spinocerebellar, Type 13
|
|
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| Diabetes Mellitus |
|
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| Benign Familial Neonatal Epilepsy |
|
Familial Neonatal Seizures
|
Bfns
|
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Benign Familial Neonatal Convulsions
|
Benign Familial Neonatal Seizures
|
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Epilepsy Benign Neonatal Familial
|
Familial Benign Neonatal Convulsions
|
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Benign Neonatal Familial Convulsions
|
Familial Benign Neonatal Epilepsy
|
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Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
|
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| Neonatal Period Electroclinical Syndrome |
|
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| Paroxysmal Extreme Pain Disorder |
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PEPD
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Familial Rectal Pain
|
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Pexpd
|
Submandibular, Ocular, And Rectal Pain With Flushing
|
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Pain, Submandibular, Ocular, And Rectal, With Flushing
|
Rectal Pain, Familial
|
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Submandibular, Ocular And Rectal Pain With Flushing
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Familial Rectal Syndrome
|
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Frp
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Pain Disorder, Paroxysmal, Extreme
|
|
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| Epilepsy, Familial Temporal Lobe, 1 |
|
ETL1
|
Adpeaf
|
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Adlte
|
Epilepsy, Partial, With Auditory Features
|
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Autosomal Dominant Partial Epilepsy With Auditory Features
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Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
|
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Familial Temporal Lobe Epilepsy 1
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Partial Epilepsy With Auditory Features
|
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Autosomal Dominant Lateral Temporal Lobe Epilepsy
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Lateral Temporal Lobe Epilepsy Autosomal Dominant
|
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Epilepsy, Temporal Lobe, Familial, Type 1
|
|
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| Hyperkalemic Periodic Paralysis |
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HYPP
|
Gamstorp Disease
|
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Gamstorp Episodic Adynamy
|
Adynamia Episodica Hereditaria With Or Without Myotonia
|
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Familial Hyperkalemic Periodic Paralysis
|
Hyperkpp
|
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Hyperpp
|
Adynamia Episodica Hereditaria
|
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Primary Hyperkalemic Periodic Paralysis
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Hyperkalemic Periodic Paralysis, Type 2
|
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Sodium Channel Muscle Disease
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Familial Hyperpp
|
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Hyperkalemic Pp
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Primary Hyperpp
|
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Periodic Paralysis Hyperkalemic
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Periodic Paralysis Normokalemic
|
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NKPP
|
Periodic Paralysis Eukalemic
|
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Paralysis, Hyperkalemic Periodic
|
Paralysis, Periodic, Hyperkalemic
|
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Potassium Aggravated Myotonia
|
|
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| Erythromelalgia |
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Primary Erythromelalgia
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Erythermalgia
|
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Primary Erythermalgia
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Mitchell Disease
|
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Familial Erythromelalgia
|
|
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| Early Myoclonic Encephalopathy |
|
Myoclonic Epilepsy
|
Myoclonic Seizure
|
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Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
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Epileptic Seizures, Myoclonic
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Myoclonia Epileptica
|
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Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
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| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
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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
|
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Epilepsy Due To Neuronal Migration Disorders
|
|
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| 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
|
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Enfl1
|
Epilepsy, Nocturnal Frontal Lobe, 1
|
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Epilepsy, Nocturnal Frontal Lobe, Type 1
|
|
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| 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
|
|
|
| Long Qt Syndrome 1 |
|
Romano-Ward Syndrome
|
LQT1
|
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Ward-Romano Syndrome
|
Rws
|
|
Ventricular Fibrillation With Prolonged Qt Interval
|
Wrs
|
|
Long Qt Syndrome 1, Acquired, Susceptibility To
|
Long Qt Syndrome 1, Acquired
|
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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
|
|
|
| Lennox-Gastaut Syndrome |
|
Lennox Syndrome
|
Encephalopathy Of Childhood
|
|
Epileptic Encephalopathy Lennox-Gastaut Type
|
Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
|
|
Lgs
|
|
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| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
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Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Long Qt Syndrome |
|
Romano-Ward Syndrome
|
Long Q-T Syndrome
|
|
Lqt
|
Qt Syndrome, Long
|
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Congenital Long Qt Syndrome
|
Familial Long Qt Syndrome
|
|
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| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Familial Atrial Fibrillation |
|
Atrial Fibrillation, Familial
|
Atfb
|
|
Atrial Fibrillation Autosomal Dominant
|
Autosomal Dominant Atrial Fibrillation
|
|
Auricular Fibrillation
|
Atrial Fibrillation
|
|
Atrial Fibrillation, Familial, 1
|
|
|
| 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]
|
|
|
