疾病名称 |
别名 |
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Leber Hereditary Optic Neuropathy, Modifier Of |
Leber Optic Atrophy
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Leber Hereditary Optic Neuropathy
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LHON
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Leber'S Hereditary Optic Neuropathy
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Leber Optic Atrophy, Susceptibility To
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Leber'S Optic Atrophy
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LOAM
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Loas
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Leber'S Disease
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Leber'S Optic Neuropathy
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Optic Atrophy, Hereditary, Leber
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Lhon, Modifier Of
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Optic Atrophy, Leber Type
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Hereditary Optic Neuroretinopathy
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Leber Hereditary Optic Atrophy
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Loa
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Optic Atrophy Leber Type
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Leber Hereditary Optic Neuropathy, Modifier
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Leber Hereditary Optic Neuropathy Susceptibility
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Modifier Of Leber Hereditary Optic Neuropathy
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Lebers Hereditary Optic Neuropathy
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Leber Congenital Amaurosis
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
Melas Syndrome
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MELAS
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Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
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Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
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Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
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Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
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Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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Leber Optic Atrophy And Dystonia |
LDYT
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Marsden Syndrome
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Leber Hereditary Optic Neuropathy With Dystonia
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Leber Hereditary Optic Neuropathy And Dystonia
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Familial Dystonia With Visual Failure And Striatal Lucencies
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Dystonia, Familial, With Visual Failure And Striatal Lucencies
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Leber Optic Atrophy With Dystonia
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Dystonia Familial, With Visual Failure And Striatal Lucencies
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Lhon And Dystonia
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Leber'S Hereditary Optic Neuropathy With Dystonia
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Oncocytoma |
Oxyphilic Adenoma
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Follicular Adenoma, Oxyphilic Cell
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Adenoma, Oxyphilic
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Hurthle Cell Tumor
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Oncocytic Neoplasm
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Leigh Syndrome |
Leigh Disease
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Infantile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
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LS
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Sne
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Leigh'S Disease
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Leigh Syndrome Due To Mitochondrial Complex I Deficiency
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Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
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Subacute Necrotizing Encephalomyelopathy
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Necrotizing Encephalopathy Infantile Subacute Of Leigh
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Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
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Infantile Necrotizing Encephalomyelopathy
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Juvenile Subacute Necrotizing Encephalomyelopathy
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Leigh'S Necrotizing Encephalopathy
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Subacute Necrotizing Encephalopathy
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Juvenile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
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Leigh Syndrome Due To Mitochondrial Complex V Deficiency
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Encephalopathy, Subacute Necrotizing, Infantile
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Encephalopathy, Subacute Necrotizing, Juvenile
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Maternally Inherited Leigh Syndrome
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Subacute Necrotising Encephalomyelopathy
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Subacute Necrotising Encephalopathy
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Leber Plus Disease |
Leber Congenital Amaurosis
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Lca
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Leber'S Amaurosis
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Leber'S Disease
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Amaurosis Congenita Of Leber
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Amaurosis Congenita Of Leber, Type 1
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Lhon Plus Disease
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Congenital Absence Of The Rods And Cones
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Congenital Retinal Blindness
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Crb
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Congenital Amaurosis Of Retinal Origin
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Leber'S Congenital Amaurosis
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Leber Congenital Amaurosis 1
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Leber'S Congenital Tapetoretinal Degeneration
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Leber'S Congenital Tapetoretinal Dysplasia
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Lca1
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Leber Congenital Amaurosis Type 1
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Retinal Blindness, Congenital
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Amaurosis, Leber Congenital
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Dysgenesis Neuroepithelialis Retinae
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Hereditary Epithelial Dysplasia Of Retina
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Hereditary Retinal Aplasia
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Heredoretinopathia Congenitalis
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Leber Abiotrophy
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Leber Congenital Tapetoretinal Degeneration
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Lebers Congenital Amaurosis
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Optic Atrophy, Hereditary, Leber
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Mitochondrial Disease |
Mitochondrial Diseases
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Mitochondrial Disorder
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Mitochondrial Dna-Associated Leigh Syndrome |
Mils
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Maternally Inherited Leigh Syndrome
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Leigh Disease, Maternally Inherited
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Subacute Necrotizing Encephalomyelopathy Maternally Inherited
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Maternally-Inherited Leigh Disease
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Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy
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Mtdna-Associated Leigh Syndrome
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Hereditary Optic Neuropathy |
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Parkinsonism |
Parkinsonism-Plus
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Idiopathic Parkinsonism
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Primary Parkinsonism
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Paralysis Agitans Syndrome
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Parkinsonian Syndrome
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Trembling Paralysis
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Paralysis Agitans
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Shaking Palsy
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Shaking Paralysis
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Parkinson Disease 6, Autosomal Recessive Early-Onset |
Autosomal Recessive Early-Onset Parkinson Disease 6
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Parkinson Disease 6
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PARK6
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Parkinson Disease 6, Early Onset
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Parkinson'S Disease 6
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Parkinson Disease 6, Early-Onset
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Autosomal Recessive Early-Onset Parkinson'S Disease 6
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Early-Onset Parkinson Disease 6
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Autosomal Recessive Early-Onset Parkinson Disease Type 6
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Parkinson Disease 6 Early-Onset
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Parkinson Disease 6 Late-Onset Susceptibility To
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Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/Dj1
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Parkinsonism Young Adult Onset
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Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1
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Parkinson Disease, Type 6, Autosomal Recessive, Early-Onset
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Dystonia |
Dystonic Disease
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Dystonic Disorder
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Dystonia Disorders
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Neuroleptic Dyskinesia
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Kearns-Sayre Syndrome |
Ophthalmoplegia
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Mitochondrial Cytopathy
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KSS
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Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
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Oculocraniosomatic Syndrome
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Chronic Progressive External Ophthalmoplegia With Myopathy
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Cpeo With Myopathy
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Total Ophthalmoplegia
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Ophthalmoplegia-Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
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Cpeo With Ragged-Red Fibers
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Oculomotor Paralysis
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Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
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Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
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Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
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Cpeo With Ragged Red Fibers
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Ophthalmoplegia Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged Red Fibers
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Kearns-Sayre Mitochondrial Cytopathy
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Mitochondrial Myopathies
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Neuropathy |
Peripheral Neuropathy
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Peripheral Neuropathies
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Mitochondrial Encephalomyopathy |
Mitochondrial Encephalomyopathies
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Encephalomyopathy, Mitochondrial
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Optic Nerve Disease |
Optic Neuropathy
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Disorder Of The Second Nerve
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Optic Nerve Disorder
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Optic Nerve
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Abnormality Of The Optic Nerve
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Optic Nerve Disorders
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Neuropathy, Optic
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Disorder Of The Optic Nerve
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Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
Leigh Syndrome, French Canadian Type
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Mitochondrial Complex V Deficiency Nuclear Type 4
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Cytochrome C Oxidase Deficiency, French Canadian Type
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Lsfc
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Cox Deficiency, French Canadian Type
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MC5DN4
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MC4DN5
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Cox Deficiency, Saguenay-Lac-Saint-Jean Type
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Leigh Syndrome, Saguenay-Lac-Saint-Jean Type
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Mitochondrial Complex V Deficiency, Nuclear Type 4
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French Canadian Leigh Disease
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Leigh Syndrome, French-Canadian Type
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Leigh Syndrome , French Canadian Type
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Mitochondrial Complex V Deficiency, Atp5a1 Type
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French Canadian Type Cox Deficiency
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French Canadian Type Cytochrome C Oxidase Deficiency
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French Canadian Type Leigh Syndrome
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Saguenay Lac Saint Jean Type Cox Deficiency
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Saguenay Lac Saint Jean Type Leigh Syndrome
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Cox Deficiency, Saguenay Lac Saint Jean Type
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Leigh Syndrome, Saguenay Lac Saint Jean Type
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Mitochondrial Complex V Deficiency, Nuclear Type 4
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Mitochondrial Complex V Deficiency Atp5a1 Type
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Mitochondrial Complex V Deficiency Type 4
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Mitochondrial Complex V Deficiency, Nuclear, Type 4
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Cortical Blindness |
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Thelaziasis |
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Congenital Nystagmus 1 |
Congenital Motor Nystagmus 1
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Nys1
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X-Linked Infantile Nystagmus 1
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Cranial Nerve Disease |
Cranial Nerve Disorder
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Disorder Of Cranial Nerve
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Cranial Nerve Diseases
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Fasciolopsiasis |
Infection By Fasciolopsis Buski
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Infectious Disease By Fasciolopsis
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Intestinal Distomatosis
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Intestinal Distoma
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Giant Intestinal Fluke Infection
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Fasciolopsis Buski Infection
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Infection By Fasciolopsis
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Busk Fluke Infection
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Intestinal Fluke Infestation
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Infestation By Fasciolopsis
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Intestinal Distomiasis
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Intestinal Fluke Disease
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Intestinal Fluke Infection
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Optic Neuritis |
Inflammatory Optic Neuropathy
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Lactic Acidosis |
Acidosis, Lactic
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Acidosis Lactic
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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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Optic Atrophy 7 With Or Without Auditory Neuropathy |
Optic Atrophy 7
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OPA7
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Autosomal Recessive Optic Atrophy, Opa7 Type
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Optic Atrophy-7
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Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
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3-Methylglutaconic Aciduria, Type Iii |
Optic Atrophy
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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
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Opa3 Defect
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MGCA3
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Mga, Type Iii
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Iraqi Jewish Optic Atrophy Plus
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Mga Type Iii
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Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
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Iraqi-Jewish 'Optic Atrophy Plus'
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Optic Atrophy 3, Autosomal Recessive
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Opa3, Autosomal Recessive
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Opa3-Related 3-Methylglutaconic Aciduria
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Iraqi-Jewish Optic Atrophy Plus
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Atrophy Of Optic Disc
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3-Alpha Methylglutaconic Aciduria Type Iii
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Optic Atrophy 3
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Optic Atrophy Infantile With Chorea And Spastic Paraplegia
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Autosomal Recessive Opa3
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Autosomal Recessive Optic Atrophy 3
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3-Methylglutaconic Aciduria 3
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3-Alpha-Methylglutaconic Aciduria Type 3
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Optic Atrophy 3 Autosomal Recessive
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Atrophy, Optic
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Atrophy, Optic, Plus Syndrome
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Optic Nerve Atrophy
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Primary Optic Atrophy
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Oa - [Optic Atrophy]
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Second Cranial Nerve Atrophy
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Second Cranium Nerve Atrophy
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Nutritional Optic Neuropathy |
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Mitochondrial Metabolism Disease |
Abnormality Of Mitochondrial Metabolism
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Mitochondrial Diseases
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Neuropathy, Ataxia, And Retinitis Pigmentosa |
Narp Syndrome
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NARP
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Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa
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Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome
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Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome
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Neuropathy, Ataxia And Retinitis Pigmentosa
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Neuropathy Ataxia Retinitis Pigmentosa Syndrome
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Neuropathy, Ataxia, And Retinitis Pigmentos
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Neuropathy Ataxia And Retinitis Pigmentosa
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Neuropathy, Ataxia, Retinitis Pigmentosa
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Neuropathy Ataxia And Retinis Pigmentosa
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Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
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Toxic Optic Neuropathy |
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Deafness, Aminoglycoside-Induced |
Streptomycin Ototoxicity
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Deafness, Mitochondrial, Modifier Of
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Aminoglycoside-Induced Deafness
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Deafness, Streptomycin-Induced
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Streptomycin-Induced Deafness
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DFNI
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Parathyroid Oncocytic Adenoma |
Parathyroid Gland Oncocytic Adenoma
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Chronic Progressive External Ophthalmoplegia |
Progressive External Ophthalmoplegia
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Cpeo
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Peo
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Ophthalmoplegia, Chronic Progressive External
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Ophthalmoplegia, External, Progressive, Chronic
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Graefe Disease
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Peo - [Progressive External Ophthalmoplegia]
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Ophthalmoplegia Plus Syndrome
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Pearson Marrow-Pancreas Syndrome |
Pearson Syndrome
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Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction
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Pearson'S Marrow/Pancreas Syndrome
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Pearson'S Syndrome
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Pearson'S Marrow-Pancreas Syndrome
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Pseudopapilledema |
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Mitochondrial Complex I Deficiency, Nuclear Type 16 |
MC1DN16
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Nuclear Type Mitochondrial Complex I Deficiency 16
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Mitochondrial Complex 1 Deficiency, Nuclear Type 16
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Mitochondrial Complex I Deficiency, Nuclear Type 1 |
Mitochondrial Complex I Deficiency
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Nadh:Q(1) Oxidoreductase Deficiency
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MC1DN1
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Nadh-Coenzyme Q Reductase Deficiency
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Isolated Mitochondrial Respiratory Chain Complex I Deficiency
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Isolated Nadh-Coenzyme Q Reductase Deficiency
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Isolated Nadh-Coq Reductase Deficiency
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Isolated Nadh-Ubiquinone Reductase Deficiency
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Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
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Nuclear Type Mitochondrial Complex I Deficiency 1
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Isolated Complex I Deficiency
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Complex 1 Mitochondrial Respiratory Chain Deficiency
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Nadh Coenzyme Q Reductase Deficiency
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Complex I Mitochondrial Respiratory Chain Deficiency
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Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
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Nadh:Ubiquinone Oxidoreductase Deficiency
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Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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Mitochondrial Myopathy |
Mitochondrial Myopathies
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Mitochondrial Cytopathy
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Myopathies In Mitochondrial Disorders
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Myoclonic Epilepsy Associated With Ragged-Red Fibers |
Merrf Syndrome
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MERRF
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Fukuhara Syndrome
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Myoclonic Epilepsy Associated With Ragged Red Fibers
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Myoencephalopathy Ragged-Red Fiber Disease
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Myoclonic Epilepsy - Ragged Red Fibers
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Myoclonus Epilepsy And Ragged Red Fibers
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Myoclonus With Epilepsy And With Ragged Red Fibers
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Myoclonic Epilepsy With Ragged Red Fibers
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Myoclonic Epilepsy With Ragged-Red Fibers
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Fukuhara Disease
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Myoclonus Epilepsy Associated With Ragged-Red Fibres
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Myoclonus With Epilepsy With Ragged Red Fibers
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Cardiomyopathy, Infantile Hypertrophic |
Infantile Hypertrophic Cardiomyopathy
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CMHI
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Neonatal Period Electroclinical Syndrome |
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Early Myoclonic Encephalopathy |
Myoclonic Epilepsy
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Myoclonic Seizure
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Epilepsies, Myoclonic
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Epileptic Seizures - Myoclonic
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Epileptic Seizures, Myoclonic
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Myoclonia Epileptica
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Myoclonic Seizure Disorder
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Early Myoclonic Encephalopathy With Suppression-Bursts
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Spinal Muscular Atrophy |
Sma
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5q Sma
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Proximal Sma
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Sma-Associated Sma
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Spinal Amyotrophies
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Spinal Amyotrophy
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Spinal Muscle Degeneration
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Spinal Muscle Wasting
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Muscular Atrophy Spinal
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Atrophy, Muscular, Spinal
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Hereditary Motor Neuronopathy
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Progressive Muscular Atrophy
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Sma - [Spinal Muscular Atrophy]
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Mitochondrial Dna Depletion Syndrome |
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Peripheral Nervous System Disease |
Peripheral Neuropathy
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Peripheral Nerve Disease
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Peripheral Nerve Disorders
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Neuropathy, Peripheral
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Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
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Retinitis Pigmentosa |
RP
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Rod-Cone Dystrophy
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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