| 疾病名称 |
别名 |
|
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
4-Hydroxybutyric Aciduria
|
Ssadh Deficiency
|
|
Gamma-Hydroxybutyric Aciduria
|
Gaba Metabolic Defect
|
|
SSADHD
|
Ssadh
|
|
Succinate-Semialdehyde Dehydrogenase Deficiency
|
Gamma-Hydroxybutyricaciduria
|
|
4-Hydroxybutyricaciduria
|
Gamma-Hydroxybutyric Acidemia
|
|
Succinate Semialdehyde Dehydrogenase Deficiency
|
|
|
| Gamma-Amino Butyric Acid Metabolism Disorder |
|
Disorder Of Gamma-Aminobutyric Acid Metabolism
|
Disorder Of Gaba Metabolism
|
|
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
|
|
|
| Canavan Disease |
|
Aspartoacylase Deficiency
|
Aminoacylase 2 Deficiency
|
|
Spongy Degeneration Of Central Nervous System
|
Aspa Deficiency
|
|
Acy2 Deficiency
|
Canavan-Van Bogaert-Bertrand Disease
|
|
Mild Canavan Disease
|
Asp Deficiency
|
|
Spongy Degeneration Of The Central Nervous System
|
Severe Canavan Disease
|
|
Von Bogaert-Bertrand Disease
|
Canavan'S Disease
|
|
Spongy Degeneration Of The Brain
|
Juvenile Canavan Disease
|
|
Infantile Canavan Disease
|
Neonatal Canavan Disease
|
|
CAND
|
Disease, Canavan
|
|
Canavan Disease, Juvenile
|
Canavan Disease, Infantile
|
|
Canavan Disease, Neonatal
|
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
Fetal Akinesia Deformation Sequence
|
Fads
|
|
Fetal Akinesia Sequence
|
FADS1
|
|
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome Type 1
|
|
Fetal Akinesia Deformation Sequence Syndrome
|
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
|
|
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome, Type I
|
|
Foetal Akinesia Deformation Sequence Syndrome
|
Foetal Akinesia Sequence
|
|
Fetal Akinesia Deformation Sequence Syndrome 1
|
Pena-Shokeir Syndrome, Type 1
|
|
Pena Shokeir Syndrome, Type 1
|
Akinesia, Fetal, Deformation Sequence
|
|
Akinesia, Fetal, Deformation Sequence, Type 1
|
Pena-Shokeir Syndrome Type I
|
|
|
| Gaba-Transaminase Deficiency |
|
Gaba Transaminase Deficiency
|
Gamma Aminobutyric Acid Transaminase Deficiency
|
|
4 Alpha Aminobutyrate Transaminase Deficiency
|
Abat Deficiency
|
|
Gaba Transferase Deficiency
|
Gaba-T Deficiency
|
|
Gamma Aminobutyrate Transaminase Deficiency
|
Gamma-Aminobutyrate Transaminase Deficiency
|
|
Gamma-Aminobutyric Acid Transaminase Deficiency
|
GABATD
|
|
|
| Alcohol-Related Neurodevelopmental Disorder |
|
Static Encephalopathy
|
Arnd
|
|
Encephalopathy, Static
|
Alcohol Related Neurodevelopmental Disorder
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Homocarnosinosis |
|
Homocarnosinase Deficiency
|
Hereditary Spastic Paraplegia Mental Impairment And Thin Corpus Callosum
|
|
Spastic Paraplegia 11
|
Autosomal Recessive Spastic Paraplegia Type 11
|
|
Hereditary Spastic Paraplegia 11
|
Nakamura Osame Syndrome
|
|
Spg11
|
Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum
|
|
Serum Carnosinase Deficiency
|
|
|
| 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
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Gaba Aminotransferase Deficiency |
|
Gamma-Aminobutyric Acid Transaminase Deficiency
|
Gamma Aminobutyric Acid Transaminase Deficiency
|
|
Gaba Transaminase Deficiency
|
Gamma-Amino Butyric Acid Transaminase Deficiency
|
|
4 Alpha Aminobutyrate Transaminase Deficiency
|
Abat
|
|
Gabat
|
Gamma Aminobutyrate Transaminase Deficiency
|
|
|
| Status Epilepticus |
|
Grand Mal Status Epilepticus
|
Grand Mal Status
|
|
Gcse
|
Generalized Convulsive Status Epilepticus
|
|
Se
|
Epilepsy With Status Epilepticus
|
|
|
| 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
|
|
|
| D-2-Hydroxyglutaric Aciduria 1 |
|
D-2-Hydroxyglutaric Aciduria
|
D2HGA1
|
|
D-2-Hga
|
D-2-Hydroxyglutaric Acidemia
|
|
D2ha
|
D2hga
|
|
Aciduria, D-2-Hydroxyglutaric, Type 1
|
Combined D-2- And L-2-Hydroxyglutaric Aciduria
|
|
|
| Hypotonia |
|
|
| Cerebral Creatine Deficiency Syndrome 1 |
|
Creatine Transporter Deficiency
|
Creatine Transporter Defect
|
|
Slc6a8 Deficiency
|
X-Linked Creatine Deficiency Syndrome
|
|
CCDS1
|
Creatine Deficiency Syndrome, X-Linked
|
|
X-Linked Creatine Deficiency
|
Creatine Deficiency, X-Linked
|
|
X-Linked Creatine Transporter Deficiency
|
Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
|
|
Mental Retardation, X-Linked, With Creatine Transport Deficiency
|
Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
|
|
Intellectual Disability, X-Linked, With Creatine Transport Deficiency
|
Slc6a8-Related Creatine Transporter Deficiency
|
|
Deficiency, Cerebral Creatine, Syndrome, Type 1
|
|
|
| Cerebral Creatine Deficiency Syndrome 2 |
|
Guanidinoacetate Methyltransferase Deficiency
|
Gamt Deficiency
|
|
Creatine Deficiency Syndrome Due To Gamt Deficiency
|
Deficiency Of Guanidinoacetate Methyltransferase
|
|
CCDS2
|
Guanidinoacetate Methyltransferase Deficiency
|
|
Deficiency, Cerebral Creatine, Syndrome, Type 2
|
Language Development Disorders
|
|
|
| Hyperprolinemia |
|
Proline Oxidase Deficiency
|
Hyperprolinemia Type 1
|
|
Proline Hydrogenase Deficiency
|
Prolinemia
|
|
Pyrroline Carboxylate Dehydrogenase Deficiency
|
Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Proline Dehydrogenase Deficiency
|
Hyperprolinemia Type 2
|
|
|
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Megdel Syndrome
|
MEGDEL
|
|
Mgca6
|
3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel
|
3-Methylglutaconic Aciduria, Type Vi
|
|
Serac1 Defect
|
3-Methylglutaconic Aciduria Type 6
|
|
3-Mgca Type Iv
|
3-Mgca-4
|
|
3-Methylglutaconic Aciduria Type Vi
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel Syndrome
|
3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome
|
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
|
|
|
| 2-Hydroxyglutaric Aciduria |
|
2-Hga
|
2-Hydroxyglutaric Acidemia
|
|
2-Hydroxyglutaricaciduria
|
Combined D-2- And L-2-Hydroxyglutaric Aciduria
|
|
|
| Phosphoserine Aminotransferase Deficiency |
|
Psat Deficiency
|
PSATD
|
|
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
|
Psat Deficiency, Infantile/Juvenile Form
|
|
Deficiency, Phosphoserine Aminotransferase
|
|
|
| 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
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Childhood Electroclinical Syndrome |
|
|
| Cerebral Creatine Deficiency Syndrome |
|
Deficiency, Cerebral Creatine, 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
|
|
|
| Fetal Alcohol Spectrum Disorder |
|
Fetal Alcohol Spectrum Disorders
|
Fetal Alcohol Syndrome
|
|
|
| L-2-Hydroxyglutaric Aciduria |
|
L-2-Hydroxyglutaric Acidemia
|
L2HGA
|
|
L-2-Hga
|
Aciduria, L-2-Hydroxyglutaric
|
|
Combined D-2- And L-2-Hydroxyglutaric Aciduria
|
|
|
| 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]
|
|
|
