| 疾病名称 |
别名 |
|
| Mitochondrial Dna Depletion Syndrome 13 |
|
MTDPS13
|
Fbxl4 Deficiency
|
|
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome
|
Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type
|
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
|
Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
|
|
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy
|
Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type
|
|
Bxl4-Related Early-Onset Mitochondrial Encephalopathy
|
Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13
|
|
Fbxl4-Related Early Onset Mitochondrial Encephalopathy
|
Mitochondrial Dna Depletion Syndrome, Type 13
|
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| 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
|
|
|
| Bile Acid Synthesis Defect, Congenital, 1 |
|
CBAS1
|
Congenital Bile Acid Synthesis Defect 1
|
|
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
|
Congenital Bile Acid Synthesis Defect Type 1
|
|
Basd1
|
Congenital Bile Acid Synthesis Defect, Type 1
|
|
3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of
|
3beta-Hsdh Deficiency
|
|
3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency
|
3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
|
|
Neonatal Progressive Intrahepatic Cholestasis
|
Pfic4
|
|
Progressive Familial Intrahepatic Cholestasis Type 4
|
Bile Acid Synthesis Defect, Congenital, Type 1
|
|
Cholestasis, Progressive Familial Intrahepatic 4
|
|
|
| Urocanase Deficiency |
|
Encephalopathy Due To Urocanase Deficiency
|
Urocanate Hydratase Deficiency
|
|
Urocanic Aciduria
|
UROCD
|
|
High Urine Urocanic Acid Levels
|
|
|
| Combined Oxidative Phosphorylation Deficiency 33 |
|
|
| Spastic Ataxia 4 |
|
|
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1
|
EMPF1
|
|
Empf
|
Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
|
|
Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission
|
Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1
|
|
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| Mitochondrial Dna Depletion Syndrome 3 |
|
Deoxyguanosine Kinase Deficiency
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
|
|
MTDPS3
|
Dguok Deficiency
|
|
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
|
Dguok-Related Mitochondrial Dna Depletion Syndrome
|
|
Hepatocerebral Mitochondrial Dna Depletion Syndrome
|
Mtdna Depletion Syndrome, Hepatocerebral Form
|
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency
|
Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
|
|
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type
|
Mitochondrial Dna Depletion Syndrome , Type 3
|
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
|
Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia 8
|
MTDPS7
|
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
|
Sca8
|
Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
|
Spinocerebellar Ataxia, Infantile-Onset
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
|
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
|
Spinocerebellar Ataxia 8, Formerly
|
|
Sca8, Formerly
|
Iosca, Mitochondrial Dna Depletion Syndrome 7
|
|
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
|
Mtdna Depletion Syndrome, Hepatocerebrorenal Form
|
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
|
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
|
Pure Spinocerebellar Ataxia Japanese Type
|
|
Sca4 Pure Japanese Type
|
Spinocerebellar Ataxia Infantile-Onset
|
|
Mitochondrial Dna Depletion Syndrome , Type 7
|
|
|
| Leukodystrophy, Hypomyelinating, 10 |
|
Hypomyelinating Leukodystrophy 10
|
HLD10
|
|
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
|
Leukodystrophy, Hypomyelinating, Type 10
|
|
|
| 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
|
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| Sengers Syndrome |
|
Mitochondrial Dna Depletion Syndrome 10
|
Cardiomyopathy And Cataract
|
|
Cataract And Cardiomyopathy
|
MTDPS10
|
|
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
|
Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10
|
|
Senger Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 2 |
|
Epileptic Encephalopathy, Early Infantile, 2
|
DEE2
|
|
Eiee2
|
Issx2
|
|
Developmental And Epileptic Encephalopathy, 2
|
Infantile Spasm Syndrome, X-Linked 2
|
|
Early Infantile Epileptic Encephalopathy 2
|
X-Linked Infantile Spasm Syndrome 2
|
|
Atypical Rett Syndrome Cdkl5-Related
|
Atypical Rett Syndrome Hanefeld Variant
|
|
Infantile Spasm Syndrome X-Linked 2
|
Rett Syndrome Early-Onset Seizure Variant
|
|
Rett Syndrome Variant With Infantile Spasms
|
Encephalopathy, Epileptic, Early Infantile, Type 2
|
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
|
Epm5
|
Miras
|
|
SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
|
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
|
Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
|
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
|
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
|
Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
|
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
|
Ataxia Neuropathy Spectrum
|
|
|
| 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 Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| 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
|
|
|
