| 疾病名称 |
别名 |
|
| Developmental And Epileptic Encephalopathy 53 |
|
DEE53
|
Epileptic Encephalopathy, Early Infantile, 53
|
|
Eiee53
|
Developmental And Epileptic Encephalopathy, 53
|
|
Early Infantile Epileptic Encephalopathy 53
|
|
|
| Parkinson Disease 20, Early-Onset |
|
Early-Onset Parkinson Disease 20
|
PARK20
|
|
Parkinson'S Disease 20
|
Early-Onset Parkinson'S Disease 20
|
|
Parkinson Disease, Type 20, Early-Onset
|
|
|
| Atypical Juvenile Parkinsonism |
|
|
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Young-Onset Parkinson Disease
|
PARK2
|
|
Pdj
|
Autosomal Recessive Juvenile Parkinson Disease 2
|
|
Epdf
|
Parkinson Disease, Juvenile, Type 2
|
|
Parkinson'S Disease 2
|
Autosomal Recessive Juvenile Parkinson Disease
|
|
Early-Onset Parkinson Disease
|
Parkinson Disease 2
|
|
Parkinson Disease, Juvenile, Autosomal Recessive
|
Parkinsonism, Early-Onset, With Diurnal Fluctuation
|
|
Autosomal Recessive Juvenile Parkinson'S Disease 2
|
Jp
|
|
Juvenile Parkinsonism
|
Parkinson Disease Autosomal Recessive, Early Onset
|
|
Parkinsonism, Early Onset, With Diurnal Fluctuation
|
Yopd
|
|
Autosomal Recessive Early-Onset Parkinson Disease Type 2
|
Chromosome 6-Linked Autosomal Recessive Parkinsonism
|
|
Early-Onset Parkinsonism With Diurnal Fluctuation
|
Parkinsonism Young Adult Onset
|
|
Parkinson Disease, Type 2
|
Parkinsonism, Juvenile
|
|
|
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Undetermined Early-Onset Epileptic Encephalopathy
|
Non-Specific Eoee
|
|
Undetermined Eoee
|
|
|
| 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
|
|
|
| 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
|
|
|
| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
|
Paralysis Agitans
|
Shaking Palsy
|
|
Shaking Paralysis
|
|
|
| Down Syndrome |
|
Trisomy 21
|
Complete Trisomy 21 Syndrome
|
|
Down'S Syndrome
|
Trisomy 21 Syndrome
|
|
Down'S Syndrome - Trisomy 21
|
Downs Syndrome
|
|
G Trisomy
|
47,Xx,+21
|
|
47,Xy,+21
|
Trisomy G
|
|
Down Syndrome, Susceptibility To
|
Chromosome 21 Trisomy
|
|
Trisomy 21 Nos
|
Abnormal Autosomes 21
|
|
|
| Charcot-Marie-Tooth Disease, Type 4j |
|
Charcot-Marie-Tooth Disease Type 4j
|
CMT4J
|
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
|
|
Charcot-Marie-Tooth Disease 4j
|
|
|
| Dystonia 26, Myoclonic |
|
Myoclonic Dystonia 26
|
DYT26
|
|
|
| Parkinson Disease 21 |
|
PARK21
|
Parkinson'S Disease 21
|
|
Parkinson Disease, Type 21
|
|
|
| Lowe Oculocerebrorenal Syndrome |
|
Lowe Syndrome
|
Oculocerebrorenal Syndrome
|
|
OCRL
|
Oculocerebrorenal Syndrome Of Lowe
|
|
Ocrl1
|
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
|
|
Lowe Disease
|
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
|
|
Cerebrooculorenal Syndrome
|
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
|
|
Lowe Oculo-Cerebro-Renal Dystrophy
|
Lowe Oculo-Cerebro-Renal Syndrome
|
|
Lowe Oculocerebrorenal Dystrophy
|
Low
|
|
Chromosome 11p Deletion Syndrome
|
Oculocerebrorenal Dystrophy
|
|
Cerebro-Oculorenal Dystrophy
|
Ocrl1 - [Oculocerebrorenal Syndrome]
|
|
Lowe-Terrey-Maclachlan Syndrome
|
Renal-Oculocerebrodystrophy
|
|
|
| Foramen Magnum Meningioma |
|
Meningioma Of The Foramen Magnum
|
|
|
| Ciliary Dyskinesia, Primary, 26 |
|
Primary Ciliary Dyskinesia 26
|
CILD26
|
|
Primary Ciliary Dyskinesia 26 With Or Without Situs Inversus
|
Ciliary Dyskinesia, Primary, 26, With Or Without Situs Inversus
|
|
Dyskinesia, Ciliary, Primary, 26
|
|
|
| Bipolar Disorder |
|
Bipolar Depression
|
Manic Disorder
|
|
Depression, Bipolar
|
Bipolar Disorder Manic Phase
|
|
Depressive-Manic Psych.
|
Manic Bipolar Affective Disorder
|
|
Manic Bipolar I Disorder
|
Manic Depression
|
|
Manic Depressive Disorder
|
Mixed Bipolar Disorder
|
|
Bipolar Affective Disorder
|
Bipolar Affective Psychosis
|
|
Bipolar Spectrum Disorder
|
Manic Depressive Illness
|
|
Depression Bipolar
|
Bipolar Disorder, Mixed
|
|
Major Affective Disorder
|
Major Affective Disorder 1
|
|
Major Affective Disorder 2
|
|
|
| Early-Onset Parkinson'S Disease |
|
Early-Onset Parkinson Disease
|
|
|
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic Lateral Sclerosis Type 11
|
ALS11
|
|
Sclerosis, Lateral, Amyotrophic, Type Type 11
|
|
|
| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| Yunis-Varon Syndrome |
|
Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia
|
Yunis Varon Syndrome
|
|
YVS
|
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
|
|
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia
|
Yunis-Varón Syndrome
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonian-Pyramidal Syndrome
|
Pallidopyramidal Syndrome
|
|
Parkinson Disease 15, Autosomal Recessive
|
PARK15
|
|
Pkps
|
Pallido-Pyramidal Syndrome
|
|
Parkinson'S Disease 15
|
Autosomal Recessive Early-Onset Parkinson Disease 15
|
|
Autosomal Recessive Early-Onset Parkinson'S Disease 15
|
Pallido-Pyramidal Disease
|
|
Parkinson Disease 15
|
Parkinson Disease 15 Autosomal Recessive
|
|
Pps
|
Parkinson Disease, Type 15
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| 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
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
