| 疾病名称 |
别名 |
|
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1
|
EMPF1
|
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Empf
|
Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
|
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Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission
|
Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1
|
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Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
|
|
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| Optic Atrophy 5 |
|
OPA5
|
Atrophy, Optic, Type 5
|
|
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| Optic Atrophy 1 |
|
OPA1
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Optic Atrophy Type 1
|
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Optic Atrophy, Juvenile
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Kjer-Type Optic Atrophy
|
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Optic Atrophy, Kjer Type
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Oak
|
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Optic Atrophy, Autosomal Dominant
|
Autosomal Dominant Optic Atrophy, Classic Form
|
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Autosomal Dominant Optic Atrophy Classic Form
|
Adoa
|
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Autosomal Dominant Optic Atrophy
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Autosomal Dominant Optic Atrophy Kjer Type
|
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Doa
|
Dominant Optic Atrophy
|
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Kjer Type Optic Atrophy
|
Kjer'S Optic Atrophy
|
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Optic Atrophy, Hereditary, Autosomal Dominant
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Autosomal Dominant Optic Atrophy, Kjer Type
|
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Kjer Optic Atrophy
|
Optic Atrophy Juvenile
|
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Optic Atrophy Kjer Type
|
Atrophy, Optic, Type 1
|
|
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| Scotoma |
|
Enlarged Blind Spot
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Scotoma Of Blind Spot Area
|
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Blind Spot Area Scotoma
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Enlarged Angioscotoma
|
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Enlarged Paracaecal Scotoma
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Generalized Visual Field Contraction Or Constriction
|
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Sector Or Arcuate Visual Field Defects
|
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| Body Mass Index Quantitative Trait Locus 11 |
|
OBESITY
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Obesity, Susceptibility To
|
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Leanness, Inherited
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Obesity, Susceptibility To, Bmiq11
|
|
Obesity, Mild, Early-Onset
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Obesity, Association With
|
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Obesity, Early-Onset, Susceptibility To
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Obesity, Severe
|
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Obesity, Severe, And Type Ii Diabetes
|
Obesity, Late-Onset
|
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Obesity , Susceptibility To
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BMIQ11
|
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Obesity Bmiq11
|
Obesity, Early-Onset
|
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Simple Obesity Nos
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Excess Fat
|
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Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified
|
Adiposis
|
|
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| Encephalopathy |
|
Brain Diseases
|
Encephalopathies
|
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Toxic Encephalopathy
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Toxic Brain Fever
|
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Toxic Brain Inflammation
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Toxic Brain Stem Inflammation
|
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Toxic Cerebral Fever
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Toxic Cerebrospinal Fever
|
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Toxic Cerebrospinal Inflammation
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Encephalopathy Nec
|
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Encephalopathy Nos
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Encephalopathy Disease
|
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Encephalopathy Syndrome
|
|
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| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
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| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Dominant Optic Atrophy Plus Syndrome
|
DOA+
|
|
Adoa
|
Autosomal Dominant Optic Atrophy
|
|
Doa
|
Optic Atrophy Plus Syndrome
|
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Dominant Optic Atrophy
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Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy
|
|
Optic Atrophy, Dominant
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3-Methylglutaconic Aciduria Type 3
|
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Optic Atrophy, Autosomal Dominant
|
|
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| Spinocerebellar Ataxia 12 |
|
Spinocerebellar Ataxia Type 12
|
SCA12
|
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Ataxia, Spinocerebellar, Type 12
|
|
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| Optic Atrophy 11 |
|
OPA11
|
Atrophy, Optic, Type 11
|
|
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| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
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Costeff Syndrome
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Mga3
|
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Costeff Optic Atrophy Syndrome
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Optic Atrophy Plus Syndrome
|
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Infantile Optic Atrophy With Chorea And Spastic Paraplegia
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3-Methylglutaconic Aciduria Type Iii
|
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Autosomal Recessive Optic Atrophy Plus Syndrome
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Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
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MGCA3
|
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Mga, Type Iii
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Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
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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
|
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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
|
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Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
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Second Cranium Nerve Atrophy
|
|
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| Cranial Nerve Disease |
|
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
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Cranial Nerve Diseases
|
|
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| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
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| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
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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
|
|
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| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
OPA10
|
Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
|
|
Optic Atrophy 10
|
Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
|
|
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| Microcephaly |
|
Microencephaly
|
Microcephalus
|
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Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
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Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
|
Micrencephaly
|
|
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| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
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Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
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Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
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| Optic Atrophy 9 |
|
OPA9
|
Atrophy, Optic, Type 9
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Peroxisomal Biogenesis Disorder |
|
Zellweger Spectrum Disorders
|
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
|
|
Disorders Of Peroxisome Biogenesis
|
Zellweger Spectrum
|
|
Zellweger Syndrome Spectrum
|
Peroxisomal Biogenesis Disorders
|
|
Pbd, Zss
|
Pbd-Zsd
|
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Pbd-Zss
|
Pbd-Zellweger Spectrum Disorder
|
|
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum
|
Peroxisome Biogenesis Disorder
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorders
|
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Zellweger Spectrum Disorder
|
Hyperpipecolic Acidaemia
|
|
|
| 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
|
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Primary Parkinson Disease
|
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
|
LHON
|
Leber'S Hereditary Optic Neuropathy
|
|
Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
|
LOAM
|
Loas
|
|
Leber'S Disease
|
Leber'S Optic Neuropathy
|
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
|
Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
|
Leber Hereditary Optic Atrophy
|
Loa
|
|
Optic Atrophy Leber Type
|
Leber Hereditary Optic Neuropathy, Modifier
|
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
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Myopathies In Mitochondrial Disorders
|
|
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| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| 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
|
|
|
| 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
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| 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
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
