| 疾病名称 |
别名 |
|
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Mitochondrial Complex Iii Deficiency Nuclear Type 4
|
MC3DN4
|
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Mitochondrial Complex Iv Deficiency, Nuclear Type 3
|
MC4DN3
|
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Mitochondrial Complex 4 Deficiency, Nuclear Type 3
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Mitochondrial Complex Iii Deficiency, Nuclear 4
|
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Mitochondrial Complex Iv Deficiency, Nuclear, Type 3
|
|
|
| Isolated Cytochrome C Oxidase Deficiency |
|
Isolated Cox Deficiency
|
Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency
|
|
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| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Cytochrome C Oxidase Deficiency
|
Mitochondrial Complex Iv Deficiency
|
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Cox Deficiency
|
Cytochrome-C Oxidase Deficiency Disease
|
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MC1DN4
|
Cytochrome-C Oxidase Deficiency
|
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MC4DN1
|
Mitochondrial Complex I Deficiency, Nuclear Type 4
|
|
Complex 4 Mitochondrial Respiratory Chain Deficiency
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Complex Iv Deficiency
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 4
|
Nuclear Type Mitochondrial Complex I Deficiency 4
|
|
Deficiency Of Mitochondrial Respiratory Chain Complex4
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MT-C4D
|
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Complex Iv Mitochondrial Respiratory Chain Deficiency
|
Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
|
|
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
|
|
|
| Cardiomyopathy, Infantile Hypertrophic |
|
Infantile Hypertrophic Cardiomyopathy
|
CMHI
|
|
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| Metabolic Acidosis |
|
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| Charcot-Marie-Tooth Disease, Type 4k |
|
Charcot-Marie-Tooth Disease Type 4k
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CMT4K
|
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k
|
Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k
|
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Surf1-Related Charcot-Marie-Tooth Disease Type 4
|
Surf1-Related Cmt4
|
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Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k
|
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k
|
Charcot-Marie-Tooth Disease 4k
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 4k
|
Charcot-Marie-Tooth Neuropathy, Type 4k
|
|
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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
|
|
|
| Lipodystrophy, Familial Partial, Type 6 |
|
FPLD6
|
Lipe-Related Familial Partial Lipodystrophy
|
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Familial Partial Lipodystrophy Type 6
|
Lipe-Related Fpld
|
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Lipodystrophy, Familial Partial, Associated With Lipe Mutations
|
Familial Partial Lipodystrophy Associated With Lipe Mutations
|
|
Lipodystrophy, Familial Partial, 6
|
|
|
| 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
|
|
Subacute Necrotizing Encephalomyelopathy
|
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
|
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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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Mitochondrial Myopathy And Sideroblastic Anemia
|
MLASA1
|
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Mlasa
|
Myopathy, Lactic Acidosis And Sideroblastic Anemia
|
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Myopathy With Lactic Acidosis And Sideroblastic Anemia
|
Sideroblastic Anemia And Mitochondrial Myopathy
|
|
Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
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Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
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Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
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| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Tomaculous Neuropathy
|
Hereditary Neuropathy With Liability To Pressure Palsies
|
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HNPP
|
Polyneuropathy, Familial Recurrent
|
|
Neuropathy, Recurrent, With Pressure Palsies
|
Current Pressure-Sensitive Neuropathy
|
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Familial Recurrent Polyneuropathy
|
Heterozygous Microdeletion 17p11.2p12
|
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Potato-Grubbing Palsy
|
Tulip-Bulb Digger'S Palsy
|
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Compression Neuropathy
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Entrapment Neuropathy
|
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Familial Pressure Sensitive Neuropathy
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Hereditary Motor And Sensory Neuropathy
|
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Hereditary Pressure Sensitive Neuropathy
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Inherited Tendency To Pressure Palsies
|
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Hereditary Liability To Pressure Palsies
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Nerve Compression Syndrome
|
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Entrapment Neuropathies
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Hereditary Motor And Sensory Neuropathies
|
|
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| Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency |
|
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency
|
Fatal Infantile Cox Deficiency
|
|
Fatal Infantile Cytochrome C Oxidase Deficiency
|
Fatal Infantile Encephalocardiomyopathy
|
|
|
| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
|
Mitochondrial Cytopathy
|
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KSS
|
Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
|
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
|
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
|
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
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
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Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
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Paralysis Of Levator Palpebrae Superioris
|
|
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia |
|
|
| Pearson Marrow-Pancreas Syndrome |
|
Pearson Syndrome
|
Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction
|
|
Pearson'S Marrow/Pancreas Syndrome
|
Pearson'S Syndrome
|
|
Pearson'S Marrow-Pancreas Syndrome
|
|
|
| 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
|
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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
|
|
|
| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
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Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
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Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
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Perceptive Deafness
|
Perceptive Hearing Loss
|
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Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
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Deafness Sensorineural
|
Hearing Loss High-Frequency
|
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Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
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| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
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Myopathies In Mitochondrial Disorders
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| 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
|
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
|
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Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Merrf Syndrome
|
MERRF
|
|
Fukuhara Syndrome
|
Myoclonic Epilepsy Associated With Ragged Red Fibers
|
|
Myoencephalopathy Ragged-Red Fiber Disease
|
Myoclonic Epilepsy - Ragged Red Fibers
|
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Myoclonus Epilepsy And Ragged Red Fibers
|
Myoclonus With Epilepsy And With Ragged Red Fibers
|
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Myoclonic Epilepsy With Ragged Red Fibers
|
Myoclonic Epilepsy With Ragged-Red Fibers
|
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Fukuhara Disease
|
Myoclonus Epilepsy Associated With Ragged-Red Fibres
|
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Myoclonus With Epilepsy With Ragged Red Fibers
|
|
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| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
