疾病名称 |
别名 |
|
Dystonia 12 |
DYT12
|
Rdp
|
Generalized Dystonia
|
Dystonia-12
|
Rapid-Onset Dystonia-Parkinsonism
|
Familial Dystonia
|
Dystonia Musculorum Deformans
|
Dystonic Disorders
|
Idiopathic Familial Dystonia
|
Dystonia-Parkinsonism, Rapid-Onset
|
Fragments Of Torsion Dystonia
|
Dyt-Atp1a3
|
Rapid-Onset Dystonia Parkinsonism
|
Rodp
|
Dystonia, Type 12
|
Dystonia 3, Torsion, X-Linked
|
Idiopathic Non-Familial Dystonia
|
Symptomatic Torsion Dystonia
|
Dystonia Disorders
|
|
|
Alternating Hemiplegia Of Childhood 2 |
AHC2
|
Hemiplegia, Alternating, Of Childhood, Type 2
|
|
|
Developmental And Epileptic Encephalopathy 99 |
|
|
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
|
Autosomal Dominant Optic Atrophy Plus Syndrome |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
|
Capos Syndrome
|
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
|
Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome
|
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing
|
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing Loss
|
Capos
|
Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
|
Dominant Optic Atrophy Plus Syndrome
|
Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, And Myopathy
|
Optic Atrophy - Deafness- Polyneuropathy - Myopathy
|
Treft-Sanborn-Carey Syndrome
|
Doa+
|
Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome
|
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Deafness Syndrome
|
Optic Atrophy Autosomal Dominant
|
Treft Sanborn Carey Syndrome
|
|
|
Dystonia |
Dystonic Disease
|
Dystonic Disorder
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
Hemiplegia |
Infantile Hemiplegia
|
Postnatal Infantile Hemiplegia
|
Hemiplegia, Infantile
|
|
|
Oculogyric Crisis |
|
|
Atp1a3-Related Neurologic Disorders |
|
|
Alternating Hemiplegia Of Childhood |
Alternating Hemiplegia
|
Ahc
|
Alternating Hemiplegia Syndrome
|
Hemiplegia, Alternating, Of Childhood
|
Hemiplegia, Crossed
|
|
|
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
|
|
|
Non-Specific Early-Onset Epileptic Encephalopathy |
Undetermined Early-Onset Epileptic Encephalopathy
|
Non-Specific Eoee
|
Undetermined Eoee
|
|
|
Hydrocephalus, Congenital, 1 |
Hydrocephaly
|
Ventriculomegaly
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
|
HYC1
|
Congenital Non-Communicating Hydrocephalus
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
|
Congenital Obstructive Hydrocephalus
|
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
|
Hydrocephalus
|
|
|
Epicanthus |
|
|
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
|
|
|
Parkinsonism |
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
Paralysis Agitans
|
Shaking Palsy
|
Shaking Paralysis
|
|
|
Familial Hemiplegic Migraine |
Hemiplegic Migraine, Familial
|
Hemiplegic-Ophthalmoplegic Migraine
|
Fhm
|
Hemiplegic Migraine Familial
|
|
|
Quadriplegia |
|
|
Movement Disease |
Movement Disorders
|
Movement Disorder
|
|
|
Hemidystonia |
|
|
Dystonia 3, Torsion, X-Linked |
X-Linked Dystonia-Parkinsonism
|
DYT3
|
Xdp
|
Lubag
|
Dystonia-Parkinsonism, X-Linked
|
Torsion Dystonia-Parkinsonism, Filipino Type
|
Dyt-Taf1
|
X-Linked Dystonia-Parkinsonism Syndrome
|
X-Linked Torsion Dystonia-Parkinsonism Syndrome
|
Dystonia Musculorum Deformans
|
X-Linked Dystonia-Parkinsonism/Lubag
|
Lubag Syndrome
|
Dystonia-3
|
Torsion Dystonia-Parkinsonism Filipino Type
|
X-Linked Torsion Dystonia 3
|
Dystonia, Torsion, X-Linked, Type 3
|
|
|
Migraine, Familial Hemiplegic, 2 |
FHM2
|
Mhp2
|
Migraine, Familial Basilar
|
Familial Hemiplegic Migraine 2
|
Familial Hemiplegic Migraine-2
|
Familiar Basilar Migraine
|
Migraine, Hemiplegic, Familial, Type 2
|
|
|
Multifocal Dystonia |
|
|
Cowden Syndrome 5 |
CWS5
|
Cowden Syndrome, Type 5
|
|
|
Oromandibular Dystonia |
|
|
Polymicrogyria |
|
|
Spasmodic Dystonia |
|
|
Spinocerebellar Ataxia 26 |
Spinocerebellar Ataxia Type 26
|
SCA26
|
Ataxia, Spinocerebellar, Type 26
|
|
|
Segmental Dystonia |
|
|
Cervical Dystonia |
|
|
46,Xy Sex Reversal 6 |
SRXY6
|
46,Xy Sex Reversal, Partial Or Complete, Map3k1-Related
|
46,Xy Gonadal Dysgenesis, Partial Or Complete, Map3k1-Related
|
46xy Sex Reversal 6
|
46,Xy Gonadal Dysgenesis Partial Or Complete Map3k1-Related
|
46,Xy Sex Reversal Partial Or Complete Map3k1-Related
|
|
|
Cortical Deafness |
|
|
Focal Dystonia |
Dystonia, Focal, Task-Specific
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
Hereditary Sensory And Autonomic Neuropathy Type 2
|
Hsan2
|
HSAN2A
|
Morvan Disease
|
Hereditary Sensory And Autonomic Neuropathy Type Ii
|
Neurogenic Acroosteolysis
|
Hsan Iia
|
Hsn2a
|
Hsn Iia
|
Neuropathy, Progressive Sensory, Of Children
|
Neuropathy, Congenital Sensory
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ii
|
Hereditary Sensory And Autonomic Neuropathy Type 2a
|
Hereditary Sensory And Autonomic Neuropathy Type Iia
|
Hsanii
|
Congenital Sensory Neuropathy
|
Hsan Type Ii
|
Morvan Syndrome
|
Neuropathy, Hereditary Sensory And Autonomic, Type 2a
|
Morvan'S Disease
|
Neuropathy, Hereditary Sensory, Type Iia
|
Acroosteolysis, Neurogenic
|
Acroosteolysis, Giaccai Type
|
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
|
Hereditary Sensory Autonomic Neuropathy Type 2
|
Giaccai Type Acroosteolysis
|
Hereditary Sensory Neuropathy Type 2
|
Hereditary Sensory Radicular Neuropathy, Recessive Form
|
Hsan2b
|
Hsan2c
|
Hsan2d
|
Hsn Type Ii
|
Autosomal Recessive Sensory Radicular Neuropathy
|
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
|
Morvan Fibrillary Chorea
|
Neuropathy, Hereditary Sensory And Autonomic, 2a
|
Acroosteolysis Giaccai Type
|
Hereditary Sensory Neuropathy Type Iia
|
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
|
Progressive Sensory Neuropathy Of Children
|
Neuropathy Congenital Sensory
|
Charcot-Marie-Tooth Disease
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
|
Hereditary Sensory Autonomic Neuropathy, Type 2
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
Sensory Neuropathy, Hereditary
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
|
|
|
Dystonia, Dopa-Responsive |
Dystonia 5
|
Dopa-Responsive Dystonia
|
DRD
|
Dyt5
|
Dystonia-Parkinsonism With Diurnal Fluctuation
|
Dyt-Th
|
Hpd With Diurnal Fluctuation
|
Hereditary Progressive Dystonia With Diurnal Fluctuation
|
Dystonia, Progressive, With Diurnal Variation
|
Segawa Syndrome, Autosomal Dominant
|
Dystonia, Dopa-Responsive, Autosomal Dominant
|
Dopa-Responsive Dystonia, Autosomal Dominant
|
Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia
|
Dyt-Gch1
|
Dyt-Spr
|
Dystonia 5, Dopa-Responsive Type
|
Hereditary Progressive Dystonia With Marked Diurnal Fluctuation
|
Autosomal Dominant Dopa-Responsive Dystonia
|
Autosomal Dominant Segawa Syndrome
|
Dystonia-5
|
Progressive Dystonia With Diurnal Fluctuation
|
Dystonia, Type 5, Dopa-Responsive Type
|
|
|
Dystonia 11, Myoclonic |
Myoclonic Dystonia
|
Myoclonus-Dystonia Syndrome
|
DYT11
|
Myoclonic Dystonia 11
|
Alcohol-Responsive Dystonia
|
Myoclonus, Hereditary Essential
|
Dystonia-11, Myoclonic
|
Myoclonus-Dystonia
|
Dystonia 11
|
Hereditary Essential Myoclonus
|
Dystonia, Alcohol-Responsive
|
Dyt-Sgce
|
Dystonia, Alcohol Responsive
|
Dystonia-11
|
Dystonia, Myoclonic
|
Dystonia, Myoclonic, Type 11
|
|
|
Hypomagnesemia 2, Renal |
Renal Hypomagnesemia 2
|
HOMG2
|
Magnesium Wasting, Renal
|
Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria
|
Magnesium Loss, Isolated Renal
|
Isolated Autosomal Dominant Hypomagnesemia
|
Isolated Renal Magnesium Wasting
|
Renal Hypomagnesemia Type 2
|
Hypomagnesemia 2
|
Dominant Renal Hypomagnesemia
|
Hypomagnesemia With Hypocalciuria
|
Isolated Renal Magnesium Loss
|
Renal Magnesium Wasting
|
Hypomagnesemia-2, Renal
|
Renal Hypomagnesemia, Dominant
|
Hypomagnesemia, Type 2, Renal
|
|
|
Developmental And Epileptic Encephalopathy |
Encephalopathy, Developmental And Epileptic
|
|
|
Mutism |
|
|
Sensorineural Hearing Loss |
Sensory Hearing Loss
|
Sensorineural Deafness
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
Central Hearing Loss
|
High Frequency Deafness
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
Spinocerebellar Ataxia, Autosomal Recessive 14 |
Autosomal Recessive Spinocerebellar Ataxia 14
|
SCAR14
|
Sparca1
|
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
|
Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur
|
Autosomal Recessive Spinocerebellar Ataxia Type 14
|
Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome
|
Sparca
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1
|
Spinocerebellar Ataxia, Autosomal Recessive, 14
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
|
|
|
Immunodeficiency 50 |
Combined Immunodeficiency Due To Moesin Deficiency
|
IMD50
|
Immunodeficiency 50, X-Linked Recessive
|
Cid Due To Moesin Deficiency
|
Msn-Related Combined Immunodeficiency
|
X-Linked Moesin-Associated Immunodeficiency
|
Immunodeficiency 50 X Linked Recessive
|
|
|
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
Sepiapterin Reductase Deficiency
|
Spr Deficiency
|
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
|
Srd
|
Drd Due To Srd
|
Dopa-Responsive Hypersomnia
|
Dyt-Spr
|
Dyt/Park-Spr
|
Sr-Deficient Drd
|
Autosomal Recessive Sepiapterin Reductase-Deficient Drd
|
Spr
|
DRDSPRD
|
Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency
|
Psychomotor Disorders
|
|
|
Blepharospasm |
|
|
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
|
|
|
Cranial Nerve Disease |
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
Cranial Nerve Diseases
|
|
|
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
|
|
|
Optic Nerve Disease |
Optic Neuropathy
|
Disorder Of The Second Nerve
|
Optic Nerve Disorder
|
Optic Nerve
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
Migraine, Familial Hemiplegic, 3 |
FHM3
|
Familial Hemiplegic Migraine 3
|
Mhp3
|
Migraine, Hemiplegic, Familial, Type 3
|
|
|
Choreatic Disease |
|
|
Episodic Ataxia, Type 8 |
Episodic Ataxia Type 8
|
EA8
|
Episodic Ataxia With Slurred Speech
|
|
|
Hereditary Ataxia |
Sca
|
Spinocerebellar Ataxia
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
Cerebellar Disease |
Cerebellar Diseases
|
Cerebellar Dysfunction
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
Inner Ear Disease |
Labyrinthine Dysfunction
|
Diseases Of Inner Ear
|
Labyrinthine Disease
|
Abnormality Of The Inner Ear
|
Labyrinth Diseases
|
Labyrinthine Disorder
|
Nonfunctioning Labyrinth
|
Labyrinthine Loss Of Function
|
Labyrinthine Syndrome
|
Labyrinthine Disorder Nos
|
|
|
Migraine With Aura |
Classic Migraine
|
Migraine With Typical Aura
|
Migraine Accompagnée
|
Complicated Migraine
|
Classical Migraine
|
Acute Migraine With Aura
|
|
|
Auditory System Disease |
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
Leukodystrophy, Hypomyelinating, 6 |
Habc
|
Hypomyelinating Leukodystrophy 6
|
HLD6
|
H-Abc
|
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum
|
Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
|
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum
|
HLD
|
Leukodystrophy, Hypomyelinating, Type 6
|
|
|
Spastic Diplegia |
Diplegic Infantile Cerebral Palsy
|
Little'S Disease
|
Cerebral Palsy
|
Cerebral Spastic Infantile Paralysis
|
Infantile Diplegic Cerebral Palsy
|
Infantile Spastic Cerebral Palsy
|
Littles Disease
|
Spastic Cerebral Palsy
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
3-Methylglutaconic Aciduria, Type Iii |
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
Costeff Syndrome
|
Mga3
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
Opa3 Defect
|
MGCA3
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
Second Cranium Nerve Atrophy
|
|
|
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
|
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|