| 疾病名称 |
别名 |
|
| Oxoglutarate Dehydrogenase Deficiency |
|
Alpha-Ketoglutarate Dehydrogenase Deficiency
|
Oxoglutaricaciduria
|
|
Oxoglutaric Aciduria
|
OGDHD
|
|
Alpha-Kgd Deficiency
|
2-Ketoglutarate Dehydrogenase Deficiency
|
|
2 Alpha Ketoglutarate Dehydrogenase Deficiency
|
Alpha Kgd Deficiency
|
|
|
| Wernicke-Korsakoff Syndrome |
|
Korsakoff Syndrome
|
Transketolase Defect
|
|
Korsakoff'S Syndrome
|
Alcohol-Induced Encephalopathy
|
|
Korsakoff'S Psychosis
|
Korsakov Psychosis
|
|
Korsakov'S Psychosis
|
Alcohol Induced Encephalopathy
|
|
Korsakoff Disease
|
Korsakoff Psychosis
|
|
|
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Door Syndrome
|
Doors Syndrome
|
|
Digitorenocerebral Syndrome
|
Autosomal Recessive Deafness-Onychodystrophy Syndrome
|
|
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome
|
DOORS
|
|
Drc Syndrome
|
Eronen Syndrome
|
|
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome
|
Brachydactyly Due To Absence Of Distal Phalanges
|
|
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
|
Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
|
|
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome
|
Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
|
|
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome
|
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
|
|
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome
|
Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
|
|
Deafness, Congenital Onychodystrophy, Recessive Form
|
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
|
|
|
| Beriberi |
|
Thiamine Deficiency
|
Vitamin B1 Deficiency
|
|
Aneurin Deficiency
|
Thiamine Vitamin Deficiency
|
|
Beriberi Nos
|
Beriberi Due To Vitamin B1 Deficiency
|
|
Beriberi Due To Thiamine Vitamin Deficiency
|
Kakkè
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2q |
|
Charcot-Marie-Tooth Disease Axonal Type 2q
|
CMT2Q
|
|
Charcot-Marie-Tooth Neuropathy, Type 2q
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q
|
|
Charcot-Marie-Tooth Neuropathy Type 2q
|
Charcot-Marie-Tooth Disease 2q
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2q
|
|
|
| Metabolic Acidosis |
|
|
| Maple Syrup Urine Disease |
|
MSUD
|
Bckd Deficiency
|
|
Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
|
Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
|
Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
|
Intermittent Maple Syrup Urine Disease
|
Maple Syrup Urine Disease, Type Ia
|
|
Ketoacidaemia
|
Bckdh Deficiency
|
|
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
|
Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
|
Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
|
Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
|
Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
|
Ketoacidemia
|
Classic Bckd Deficiency
|
|
Classic Msud
|
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
|
Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Intermittent Bckd Deficiency
|
Intermittent Msud
|
|
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
|
MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
|
Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
|
MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
|
Msud Type Ib
|
Maple Syrup Urine Disease 2
|
|
MSUD2
|
Maple Syrup Urine Disease Type Ii
|
|
Msud Type Ii
|
Nadh Cytochrome B5 Reductase Deficiency
|
|
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
|
Ketonemia
|
|
Maple Syrup Urine Disease, Type 1b
|
Ketoacid Decarboxylase Deficiency
|
|
Oxoacid Decarboxylase Deficiency
|
Branched Chain Ketoacid Dehydrogenase Deficiency
|
|
Msud - [Maple-Syrup-Urine Disease]
|
Ketoaminoacidaemia
|
|
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
|
Maple-Syrup-Urine Syndrome
|
|
|
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
2-Aminoadipic 2-Oxoadipic Aciduria
|
Amoxad
|
|
AAKAD
|
2-Ketoadipic Aciduria
|
|
Alpha-Aminoadipic Aciduria
|
Amino Adipic Aciduria
|
|
Aciduria, 2-Aminoadipic 2-Oxoadipic
|
|
|
| Primary Biliary Cholangitis |
|
Primary Biliary Cirrhosis
|
Biliary Liver Cirrhosis
|
|
Chronic Nonsuppurative Destructive Cholangitis
|
Familial Primary Biliary Cirrhosis
|
|
Pbc
|
Hanot Syndrome
|
|
Cholestatic Cirrhosis
|
Biliary Cirrhosis Primary
|
|
Liver Cirrhosis, Biliary
|
Hanot'S Cirrhosis
|
|
Biliary Cirrhosis
|
Pericholangiolic Biliary Cirrhosis
|
|
Tannhauser-Magendantz Syndrome
|
Hanot-Rossle Syndrome
|
|
Hypertrophic Cirrhosis
|
Todd Cirrhosis
|
|
Hanot Cirrhosis
|
Charcot Cirrhosis
|
|
Mahon-Tannhauser Syndrome
|
Toxic Cirrhosis
|
|
Hypertrophic Biliary Cirrhosis
|
Monolobular Cirrhosis
|
|
Unilobar Cirrhosis
|
Xanthomatous Biliary Cirrhosis
|
|
|
| Hypotonia |
|
|
| Fanconi Syndrome |
|
Infantile Nephropathic Cystinosis
|
Adult Fanconi Syndrome
|
|
Congenital Fanconi Syndrome
|
De Toni-Fanconi Syndrome
|
|
Fanconi-De Toni Syndrome
|
Lignac-Fanconi Syndrome
|
|
Fanconi Renotubular Syndrome
|
Primary Fanconi Renotubular Syndrome
|
|
De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
|
Detoni Fanconi Syndrome
|
Fanconi-De-Toni Syndrome
|
|
Primary Fanconi Syndrome
|
Detoni-Debre-Fanconi Syndrome
|
|
Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
|
Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
|
Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
|
|
| Infantile Cerebellar-Retinal Degeneration |
|
ICRD
|
Infantile Cerebellar Retinal Degeneration
|
|
Degeneration, Cerebellar-Retinal, Infantile
|
|
|
| Thiamine Deficiency Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
| 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
|
|
|
| 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
|
|
|
