| 疾病名称 |
别名 |
|
| Cardiomyopathy, Infantile Hypertrophic |
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Infantile Hypertrophic Cardiomyopathy
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CMHI
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| Periodic Paralysis With Later-Onset Distal Motor Neuropathy |
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| Cardiomyopathy, Infantile Histiocytoid |
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Histiocytoid Cardiomyopathy
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Foamy Myocardial Transformation Of Infancy
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Infantile Histiocytoid Cardiomyopathy
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Infantile Xanthomatous Cardiomyopathy
|
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Oncocytic Cardiomyopathy
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Cardiomyopathy, Infantile Xanthomatous
|
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Cardiomyopathy, Focal Lipid
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Cardiomyopathy, Oncocytic
|
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Focal Lipid Cardiomyopathy
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Infantile Cardiomyopathy With Histiocytoid Change
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CMIH
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Cardiomyopathy Focal Lipid
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Cardiomyopathy Infantile Xanthomatous
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Cardiomyopathy Oncocytic
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| Aortic Valve Disease 1 |
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Aortic Valve Disease
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Bicuspid Aortic Valve
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Aortic Valve Disorder
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AOVD1
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Bav
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Bicuspid Aortic Valve Disease
|
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Familial Bicuspid Aortic Valve
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Aortic Valve Calcification
|
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Aovd
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Aortic Valve, Bicuspid
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Aortic Valve, Calcification Of
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Aortic Stenosis, Calcific
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Familial Bav
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Calcific Aortic Stenosis
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Calcification Of Aortic Valve
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Abnormality Of The Aortic Valve
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Aortic Valve Disease, Type 1
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Aortic Valve Disease 2
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Bicommissural Aortic Valve
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| Isolated Atp Synthase Deficiency |
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Isolated Mitochondrial Respiratory Chain Complex V Deficiency
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| Kearns-Sayre Syndrome |
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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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| Optic Nerve Disease |
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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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| Deficiency Anemia |
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Anemia
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Deficiency Anemias
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Anaemia
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| Mitochondrial Disease |
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Mitochondrial Diseases
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Mitochondrial Disorder
|
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| Neuropathy, Ataxia, And Retinitis Pigmentosa |
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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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| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
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MRD30
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Mental Retardation, Autosomal Dominant 30
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Intellectual Developmental Disorder, Autosomal Dominant 30
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Autosomal Dominant Non-Syndromic Intellectual Disability 30
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Autosomal Dominant Intellectual Developmental Disorder 30
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Autosomal Dominant Mental Retardation 30
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Mental Retardation, Autosomal Dominant, Type 30
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| Acanthocephaliasis |
|
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| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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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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| Multiple Sclerosis |
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MS
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Multiple Sclerosis, Susceptibility To
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Disseminated Sclerosis
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Multiple Sclerosis, Disease Progression, Modifier Of
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Insular Sclerosis
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Multiple Sclerosis Modifier Of Disease Progression
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Multiple Sclerosis, Susceptibility To 1
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Multiple Sclerosis, Susceptibility To, 1
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Multiple Sclerosis 1
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Generalized Multiple Sclerosis
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Multiple Sclerosis Variant
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Multiple Sclerosis Susceptibility To
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Cerebrospinal Sclerosis
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Generalised Multiple Sclerosis
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Ms - [Multiple Sclerosis]
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Disseminated Cerebrospinal Sclerosis
|
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Disseminated Multiple Sclerosis
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Disseminated Nervous System Myelosclerosis
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Multiple Cerebrospinal Sclerosis
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Multiple Combined Sclerosis
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Multiple Sclerosis Generalised
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Disseminated Brain Sclerosis
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Disseminated Spinal Sclerosis
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Insular Brain Sclerosis
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Miliary Brain Sclerosis
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Multiple Combined Sclerosis Of Spinal Cord
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Multiple Ascending Sclerosis
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Multiple Brain Sclerosis
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Multiple Sclerosis Of Brain Stem
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Multiple Sclerosis Of The Brain Stem
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Multiple Sclerosis Of Cord
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Sclérose En Plaques
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Plaque Sclerosis
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Multiple Sclerosis Of The Spinal Cord
|
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| Gnathomiasis |
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Gnathostomiasis
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Infectious Disease By Gnathostoma
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Gnathostomosis
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Wandering Swelling
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| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
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Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
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COB1
|
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Coloboma-Microphthalmos Syndrome
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Coloboma-Microphthalmos Syndrome Associated With Sensorineural Hearing Loss, Hematuria, And Cleft Lip/Palate
|
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Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome
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Ocular Coloboma With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
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Uveal Coloboma-Cleft Lip/Palate-Mental Retardation Syndrome
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Uveal Coloboma-Cleft Lip/Palate-Intellectual Disability Syndrome
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Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Intellectual Disability
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Coloboma, Ocular, With/Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
|
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| Parkinson Disease 4, Autosomal Dominant |
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Autosomal Dominant Parkinson Disease 4
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PARK4
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Parkinson Disease 4, Autosomal Dominant Lewy Body
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Parkinson Disease 4
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Parkinson'S Disease 4
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Autosomal Dominant Lewy Body Parkinson Disease 4
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Autosomal Dominant Parkinson'S Disease 4
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Parkinson Disease 4 Autosomal Dominant Lewy Body
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Parkinson Disease Autosomal Dominant 4
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Parkinson Disease Familial Type 4
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Parkinson Disease, Type 4
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| Hypertrophic Cardiomyopathy |
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Hypertrophic Obstructive Cardiomyopathy
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Cardiomyopathy, Hypertrophic
|
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Cardiomyopathy Hypertrophic Obstructive
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Cardiomyopathy, Hypertrophic, Familial
|
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Idiopathic Myocardial Hypertrophy
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Idiopathic Hypertrophic Cardiomyopathy
|
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Obstructive Idiopathic Hypertrophic Cardiomyopathy
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Obstructive Cardiomyopathy
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Idiopathic Hypertrophic Subaortic Stenosis
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Muscular Subaortic Stenosis
|
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Hypertrophic Obstructive Subaortic Stenosis
|
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| 3-Methylglutaconic Aciduria |
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3-Methyl Glutaconic Aciduria
|
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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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| 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 |
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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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| Cercarial Dermatitis |
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Swimmer'S Itch
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Cutaneous Schistosomiasis
|
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Sea Bather'S Eruption
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Clam-Digger'S Itch
|
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Rice-Paddy Itch
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Sea Bather'S Itch
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Sawah Itch
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Schistosomal Cercarial Dermatitis
|
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| Hermaphroditism |
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| Mitochondrial Myopathy |
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Mitochondrial Myopathies
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Mitochondrial Cytopathy
|
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Myopathies In Mitochondrial Disorders
|
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| Mitochondrial Encephalomyopathy |
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Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
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| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
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Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
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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| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Merrf Syndrome
|
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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| Leigh Syndrome |
|
Leigh Disease
|
Infantile Subacute Necrotizing Encephalopathy
|
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Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
|
LS
|
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Sne
|
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
|
Subacute Necrotising Encephalomyelopathy
|
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Subacute Necrotising Encephalopathy
|
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| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
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| 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
|
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Isolated Nadh-Coq Reductase Deficiency
|
Isolated Nadh-Ubiquinone Reductase Deficiency
|
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Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
|
Nuclear Type Mitochondrial Complex I Deficiency 1
|
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Isolated Complex I Deficiency
|
Complex 1 Mitochondrial Respiratory Chain Deficiency
|
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Nadh Coenzyme Q Reductase Deficiency
|
Complex I Mitochondrial Respiratory Chain Deficiency
|
|
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
|
Nadh:Ubiquinone Oxidoreductase Deficiency
|
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Complex I, Mitochondrial Respiratory Chain, Deficiency Of
|
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| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
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Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
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Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
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