| 疾病名称 |
别名 |
|
| Thiamine Metabolism Dysfunction Syndrome 2 |
|
Biotin-Responsive Basal Ganglia Disease
|
Basal Ganglia Disease, Biotin-Responsive
|
|
THMD2
|
Bbgd
|
|
Btbgd
|
Encephalopathy, Thiamine-Responsive
|
|
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type
|
Thiamine-Responsive Encephalopathy
|
|
|
| Biotin-Thiamine-Responsive Basal Ganglia Disease |
|
Biotin-Responsive Basal Ganglia Disease
|
Bbgd
|
|
Btbgd
|
Thiamine Transporter-2 Deficiency
|
|
Thiamine-Responsive Encephalopathy
|
Thiamine Metabolism Dysfunction Syndrome-2
|
|
Thiamine Metabolism Dysfunction Syndrome 2
|
Thmd2
|
|
Basal Ganglia Disease, Biotin-Responsive
|
|
|
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
|
| Leigh Syndrome With Leukodystrophy |
|
Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy
|
Leigh Disease With Leukodystrophy
|
|
|
| Basal Ganglia Disease |
|
Basal Ganglia Diseases
|
Basal Ganglia Disorders
|
|
Abnormality Of The Basal Ganglia
|
|
|
| Thiamine Deficiency Disease |
|
|
| Dry Beriberi |
|
|
| Wet Beriberi |
|
|
| Encephalopathy |
|
Brain Diseases
|
Encephalopathies
|
|
Toxic Encephalopathy
|
Toxic Brain Fever
|
|
Toxic Brain Inflammation
|
Toxic Brain Stem Inflammation
|
|
Toxic Cerebral Fever
|
Toxic Cerebrospinal Fever
|
|
Toxic Cerebrospinal Inflammation
|
Encephalopathy Nec
|
|
Encephalopathy Nos
|
Encephalopathy Disease
|
|
Encephalopathy Syndrome
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
TRMA
|
Rogers Syndrome
|
|
Thiamine-Responsive Myelodysplasia
|
Thiamine-Responsive Anemia Syndrome
|
|
Thiamine Metabolism Dysfunction Syndrome 1
|
Thmd1
|
|
Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness
|
Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness
|
|
Thiamine Responsive Megaloblastic Anemia Syndrome
|
Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness
|
|
Thiamine-Responsive Megaloblastic Anemia
|
Thiamine-Responsive Anaemia Syndrome
|
|
Thiamine-Responsive Megaloblastic Anaemia Syndrome
|
Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness
|
|
Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
|
|
|
| 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
|
|
|
| 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
|
|
|
| Wernicke Encephalopathy |
|
Wernicke'S Encephalopathy
|
Wernicke'S Disease
|
|
Encephalopathy, Wernicke'S
|
Wernicke-Korsakoff Syndrome
|
|
Encephalopathy Due To Vitamin B1 Deficiency
|
Wernicke Disease
|
|
Wernicke Syndrome
|
|
|
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Pyruvate Dehydrogenase Deficiency
|
Pyruvate Dehydrogenase Complex Deficiency
|
|
Pyruvate Decarboxylase Deficiency
|
Pdh Deficiency
|
|
PDHAD
|
Pyruvate Dehydrogenase Complex Deficiency Disease
|
|
Ataxia With Lactic Acidosis I
|
Ataxia With Lactic Acidosis 1
|
|
Pdh
|
Pdhc
|
|
Ataxia With Lactic Acidosis
|
Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
|
|
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency
|
Deficiency Of Pyruvic Dehydrogenase
|
|
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency
|
Pdc Deficiency
|
|
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency
|
Pdhc Deficiency
|
|
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency
|
Ataxia Intermittent With Abnormal Pyruvate Metabolism
|
|
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency
|
Pyruvate Dehydrogenase E1 Alpha Deficiency
|
|
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency
|
Ataxia With Lactic Acidosis 2
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
MC1DN16
|
Nuclear Type Mitochondrial Complex I Deficiency 16
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 16
|
|
|
| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
|
Mitochondrial Cytopathy
|
|
KSS
|
Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
|
Oculocraniosomatic Syndrome
|
Chronic Progressive External Ophthalmoplegia With Myopathy
|
|
Cpeo With Myopathy
|
Total Ophthalmoplegia
|
|
Ophthalmoplegia-Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
|
|
Cpeo With Ragged-Red Fibers
|
Oculomotor Paralysis
|
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
|
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
|
Cpeo With Ragged Red Fibers
|
|
Ophthalmoplegia Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
|
Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
|
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
MOCODB
|
Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B
|
|
Molybdenum Cofactor Deficiency B
|
Molybdenum Cofactor Deficiency Type B
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B
|
Mocod Type B
|
|
Molybdenum Cofactor Deficiency Complementation Group B
|
Deficiency, Molybdenum Cofactor, Complementation Group B
|
|
|
| Biotin Deficiency |
|
Biotin Deficiency Disease
|
B7 Deficiency
|
|
Biotan Vitamin Deficiency
|
|
|
| Mitochondrial Dna Depletion Syndrome 5 |
|
Succinate-Coa Ligase Deficiency
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
|
MTDPS5
|
Booth-Haworth-Dilling Syndrome
|
|
Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic
|
Mitochondrial Dna Depletion Syndrome-5
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive
|
Mitochondrial Encephalomyopathy Aminoacidopathy
|
|
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
|
|
Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria
|
Succinate-Coenzyme A Ligase Deficiency
|
|
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome
|
Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria
|
|
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
|
Mitochondrial Dna Depletion Syndrome, Type 5
|
|
|
| Ehrlich Tumor Carcinoma |
|
Carcinoma, Ehrlich Tumor
|
Ehrlich Tumour Carcinoma
|
|
Ehrlich'S Tumor
|
Ehrlich'S Tumour
|
|
|
| Biotinidase Deficiency |
|
Late-Onset Multiple Carboxylase Deficiency
|
BTD DEFICIENCY
|
|
Multiple Carboxylase Deficiency, Late-Onset
|
Multiple Carboxylase Deficiency, Juvenile-Onset
|
|
Juvenile-Onset Multiple Carboxylase Deficiency
|
Biotin Deficiency
|
|
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Deficiency Of Biotinidase
|
|
Biot
|
Carboxylase Deficiency, Multiple, Late-Onset
|
|
Late-Onset Mcd
|
Mcd Juvenile Form
|
|
Biotin Deficiency Disease
|
|
|
| Megaloblastic Anemia |
|
Imerslund-Grasbeck Syndrome
|
Igs
|
|
Defect Of Enterocyte Intrinsic Factor Receptor
|
Enterocyte Cobalamin Malabsorption
|
|
Familial Megaloblastic Anemia
|
Megaloblastic Anemia 1
|
|
Selective Cobalamin Malabsorption With Proteinuria
|
Imerslund-Gräsbeck Syndrome
|
|
Anemia, Megaloblastic
|
Grasbeck-Imerslund Syndrome
|
|
Megaloblastic Anaemia
|
Mga1 Norwegian Type
|
|
Recessive Hereditary Megaloblastic Anaemia 1
|
Recessive Hereditary Megaloblastic Anemia 1
|
|
Rh-Mga1
|
Gräsbeck-Imerslund Disease
|
|
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria
|
Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
|
|
Anemia Megaloblastic
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
|
3-@Methylglutaconic Aciduria, Type I
|
|
|
| Ocular Motility Disease |
|
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
|
Eye Movement Disorders
|
|
|
| Brown-Vialetto-Van Laere Syndrome |
|
|
| Chorea Gravidarum |
|
|
| Multiple Carboxylase Deficiency |
|
Mcd
|
Holocarboxylase Synthetase Deficiency
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Acyl-Coa Dehydrogenase 9 Deficiency
|
Acad9 Deficiency
|
|
MC1DN20
|
Mitochondrial Complex I Deficiency Due To Acad9 Deficiency
|
|
Nuclear Type Mitochondrial Complex I Deficiency 20
|
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of
|
|
Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency
|
Deficiency Of Acyl-Coa Dehydrogenase Family Member 9
|
|
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency
|
|
|
| Glutaric Acidemia I |
|
Glutaryl-Coa Dehydrogenase Deficiency
|
GA1
|
|
Glutaric Acidemia Type 1
|
Glutaric Aciduria 1
|
|
Glutaric Aciduria Type 1
|
Glutaric Acidemia Type I
|
|
Glutaric Aciduria, Type 1
|
Glutaric Aciduria I
|
|
Ga I
|
Glutaricaciduria, Type I
|
|
Glutaryl-Coenzyme A Dehydrogenase Deficiency
|
Glutaric Academia Type 1
|
|
Glutaric Aciduria Type I
|
Ga-1
|
|
Gcdh Deficiency
|
Ga 1
|
|
Glutaric Acidemia 1
|
Gcdhd
|
|
Glutaric Aciduria, Type I
|
Glutaricaciduria I
|
|
Ga-I
|
Glutaricaciduria, Type 1
|
|
|
| Leigh Syndrome |
|
Leigh Disease
|
Infantile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
|
LS
|
|
Sne
|
Leigh'S Disease
|
|
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
|
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
|
|
Subacute Necrotizing Encephalomyelopathy
|
Necrotizing Encephalopathy Infantile Subacute Of Leigh
|
|
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
|
Infantile Necrotizing Encephalomyelopathy
|
|
Juvenile Subacute Necrotizing Encephalomyelopathy
|
Leigh'S Necrotizing Encephalopathy
|
|
Subacute Necrotizing Encephalopathy
|
Juvenile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
|
Leigh Syndrome Due To Mitochondrial Complex V Deficiency
|
|
Encephalopathy, Subacute Necrotizing, Infantile
|
Encephalopathy, Subacute Necrotizing, Juvenile
|
|
Maternally Inherited Leigh Syndrome
|
Subacute Necrotising Encephalomyelopathy
|
|
Subacute Necrotising Encephalopathy
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Mitochondrial Complex I Deficiency
|
Nadh:Q(1) Oxidoreductase Deficiency
|
|
MC1DN1
|
Nadh-Coenzyme Q Reductase Deficiency
|
|
Isolated Mitochondrial Respiratory Chain Complex I Deficiency
|
Isolated Nadh-Coenzyme Q Reductase Deficiency
|
|
Isolated Nadh-Coq Reductase Deficiency
|
Isolated Nadh-Ubiquinone Reductase Deficiency
|
|
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
|
Nuclear Type Mitochondrial Complex I Deficiency 1
|
|
Isolated Complex I Deficiency
|
Complex 1 Mitochondrial Respiratory Chain Deficiency
|
|
Nadh Coenzyme Q Reductase Deficiency
|
Complex I Mitochondrial Respiratory Chain Deficiency
|
|
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
|
Nadh:Ubiquinone Oxidoreductase Deficiency
|
|
Complex I, Mitochondrial Respiratory Chain, Deficiency Of
|
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
|
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
|
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
|
|
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
|
