| 疾病名称 |
别名 |
|
| 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
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| 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
|
|
|
| Leigh Syndrome With Leukodystrophy |
|
Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy
|
Leigh Disease With Leukodystrophy
|
|
|
| Landau-Kleffner Syndrome |
|
Acquired Epileptic Aphasia
|
Lks
|
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Acquired Aphasia With Convulsive Disorder
|
Acquired Epileptiform Aphasia
|
|
Landau Kleffner Syndrome
|
Childhood Epileptic Aphasia
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| 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
|
|
|
| Bursitis |
|
Bursitis, Not Otherwise Specified
|
Inflammation Of Bursa
|
|
|
| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
|
Paralysis Agitans
|
Shaking Palsy
|
|
Shaking Paralysis
|
|
|
| Cataract 38 |
|
CTRCT38
|
Catc5
|
|
Autosomal Recessive Congenital Cataract 5
|
Cataract, Autosomal Recessive Congenital 5
|
|
Cataract 38, Autosomal Recessive
|
Cataract, Type 38
|
|
|
| Early Myoclonic Encephalopathy |
|
Myoclonic Epilepsy
|
Myoclonic Seizure
|
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Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
| Parathyroid Oncocytic Adenoma |
|
Parathyroid Gland Oncocytic Adenoma
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
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| Encephalopathy, Ethylmalonic |
|
Ethylmalonic Encephalopathy
|
EE
|
|
Epema Syndrome
|
Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
Ethe1 Deficiency
|
Eme
|
|
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
|
| 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
|
|
|
| Dementia, Lewy Body |
|
Lewy Body Dementia
|
Lewy Body Disease
|
|
Diffuse Lewy Body Disease
|
Dementia With Lewy Bodies
|
|
DLB
|
Autosomal Dominant Diffuse Lewy Body Disease
|
|
Cortical Lewy Body Disease
|
Dementia, Lewy Body, Susceptibility To
|
|
Lewy Body Dementia, Susceptibility To
|
Senile Dementia Of The Lewy Body Type
|
|
Dementia Of The Lewy Body Type
|
Lbd
|
|
Diffuse Lewy Body Disease With Gaze Palsy
|
Dysphasic Dementia Hereditary
|
|
Lewy Body Type Senile Dementia
|
Lewy Body Variant Of Alzheimer Disease
|
|
Lewy Bodies
|
Lewy Body
|
|
Dlbd - [Diffuse Lewy Body Disease]
|
Clbd - [Cortical Lewy Body Disease]
|
|
|
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Severe X-Linked Mitochondrial Encephalomyopathy
|
COXPD6
|
|
Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6
|
Mitochondrial Encephalomyopathy Due To Coxpd6
|
|
Encephalomyopathy, Mitochondrial, X-Linked
|
Encephalomyopathy Mitochondrial X-Linked
|
|
Oxidative Phosphorylation Deficiency, Combined, Type 6
|
|
|
| Mitochondrial Dna Depletion Syndrome 9 |
|
MTDPS9
|
Fatal Infantile Lactic Acidosis
|
|
Lactic Acidosis, Fatal Infantile, Formerly
|
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
|
|
Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Type 9
|
|
Lactic Acidosis, Fatal Infantile
|
|
|
| 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
|
|
|
| Supranuclear Palsy, Progressive, 1 |
|
Progressive Supranuclear Palsy
|
Steele-Richardson-Olszewski Syndrome
|
|
Supranuclear Palsy, Progressive
|
Progressive Supranuclear Ophthalmoplegia
|
|
Psp
|
PSNP1
|
|
Familial Progressive Supranuclear Palsy
|
Richardson'S Syndrome
|
|
Psp Syndrome
|
Progressive Supranuclear Palsy 1
|
|
Supranuclear Palsy Progressive
|
Ophthalmoplegia, Supranuclear, Progressive
|
|
Steele-Richardson-Olszewksi Syndrome
|
|
|
| Leukodystrophy |
|
|
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Narp Syndrome
|
NARP
|
|
Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa
|
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome
|
|
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome
|
Neuropathy, Ataxia And Retinitis Pigmentosa
|
|
Neuropathy Ataxia Retinitis Pigmentosa Syndrome
|
Neuropathy, Ataxia, And Retinitis Pigmentos
|
|
Neuropathy Ataxia And Retinitis Pigmentosa
|
Neuropathy, Ataxia, Retinitis Pigmentosa
|
|
Neuropathy Ataxia And Retinis Pigmentosa
|
Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
|
|
|
| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| Spinal Muscular Atrophy |
|
Sma
|
5q Sma
|
|
Proximal Sma
|
Sma-Associated Sma
|
|
Spinal Amyotrophies
|
Spinal Amyotrophy
|
|
Spinal Muscle Degeneration
|
Spinal Muscle Wasting
|
|
Muscular Atrophy Spinal
|
Atrophy, Muscular, Spinal
|
|
Hereditary Motor Neuronopathy
|
Progressive Muscular Atrophy
|
|
Sma - [Spinal Muscular Atrophy]
|
|
|
| Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
|
Cmt4x
|
Cmtx4
|
|
Cowchock Syndrome
|
X-Linked Charcot-Marie-Tooth Disease Type 4
|
|
Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation
|
Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
|
|
Nadmr
|
Namsd
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
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
|
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| 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
|
|
|
| Huntington Disease |
|
Huntington'S Disease
|
Huntington Chorea
|
|
Huntington'S Chorea
|
HD
|
|
Huntington Chronic Progressive Hereditary Chorea
|
Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
|
Chronic Progressive Hereditary Chorea
|
|
Hc - [Huntington Chorea]
|
Hereditary Chorea
|
|
Progressive Hereditary Chorea
|
|
|
| Type 2 Diabetes Mellitus |
|
Insulin Resistance
|
NIDDM
|
|
Type 2 Diabetes
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
T2D
|
Noninsulin-Dependent Diabetes Mellitus
|
|
Diabetes Mellitus, Type Ii
|
Maturity-Onset Diabetes
|
|
Insulin Resistance, Severe, Digenic
|
Diabetes Mellitus, Type 2
|
|
Diabetes Mellitus, Noninsulin-Dependent
|
Diabetes Mellitus, Noninsulin-Dependent, Association With
|
|
Diabetes Mellitus, Noninsulin-Dependent, Late Onset
|
Hypertension, Insulin Resistance-Related, Susceptibility To
|
|
Insulin Resistance, Susceptibility To
|
Non-Insulin-Dependent Diabetes Mellitus
|
|
Type Ii Diabetes Mellitus
|
Adult-Onset Diabetes Mellitus
|
|
Maturity-Onset Diabetes Mellitus
|
Diabetes Mellitus Type 2
|
|
Type Ii Diabetes
|
Type 2 Diabetes Mellitus, Susceptibility To
|
|
Diabetes, Type 2
|
Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
|
|
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To
|
Diabetes Mellitus, Type 2, Susceptibility To
|
|
Diabetes Mellitus, Noninsulin-Dependent, 2
|
Diabetes Mellitus, Type Ii, Susceptibility To
|
|
Hypertension, Insulin Resistance-Related
|
Adult-Onset Diabetes
|
|
Aodm
|
Diabetes Mellitus, Adult-Onset
|
|
Diabetes Mellitus Type Ii
|
Diabetes Mellitus Type 2, Susceptibility To
|
|
Diabetes, Type Ii, Susceptibility To
|
Diabetes Type 2
|
|
Diabetes Mellitus
|
Adult Onset Diabetes
|
|
Maturity Onset Diabetes
|
Nonketotic Diabetes
|
|
Non-Insulin Dependent Diabetes Mellitus
|
T2dm - [Type 2 Diabetes Mellitus]
|
|
Niddm - [Non Insulin Dependent Diabetes Mellitus]
|
Dm2
|
|
Dm Type Ii
|
Diabetic Type 2
|
|
Insulin Requiring Type 2 Diabetes
|
Noninsulin Dependent Diabetes
|
|
Non-Insulin-Dependent Diabetes Mellitus Without Complications
|
Diabetes Due To Insulin Secretory Defect
|
|
Diabetes Mellitus Due To Insulin Secretory Defect
|
Non-Insulin-Dependent Diabetes Of The Young
|
|
Senile Diabetes
|
Nonketotic Hyperglycaemia
|
|
Stable Diabetes
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
