| 疾病名称 |
别名 |
|
| Charcot-Marie-Tooth Disease, Type 4k |
|
Charcot-Marie-Tooth Disease Type 4k
|
CMT4K
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k
|
Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k
|
|
Surf1-Related Charcot-Marie-Tooth Disease Type 4
|
Surf1-Related Cmt4
|
|
Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k
|
|
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
|
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Cytochrome C Oxidase Deficiency
|
Mitochondrial Complex Iv Deficiency
|
|
Cox Deficiency
|
Cytochrome-C Oxidase Deficiency Disease
|
|
MC1DN4
|
Cytochrome-C Oxidase Deficiency
|
|
MC4DN1
|
Mitochondrial Complex I Deficiency, Nuclear Type 4
|
|
Complex 4 Mitochondrial Respiratory Chain Deficiency
|
Complex Iv Deficiency
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 4
|
Nuclear Type Mitochondrial Complex I Deficiency 4
|
|
Deficiency Of Mitochondrial Respiratory Chain Complex4
|
MT-C4D
|
|
Complex Iv Mitochondrial Respiratory Chain Deficiency
|
Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
|
|
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
|
|
|
| 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 Cardiomyopathy |
|
Cardiomyopathy With Hypotonia Due To Cytochrome C Oxidase Deficiency
|
Cardiomyopathy With Myopathy Due To Cox Deficiency
|
|
Leigh Disease With Myopathy
|
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Leigh Syndrome With Leukodystrophy |
|
Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy
|
Leigh Disease With Leukodystrophy
|
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| 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
|
|
|
| Hypertrichosis |
|
|
| 46,Xy Sex Reversal 7 |
|
SRXY7
|
46,Xy Sex Reversal, Partial Or Complete, Dhh-Related
|
|
46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related
|
Gdxym
|
|
Gonadal Dysgenesis, Xy, Male-Limited
|
46xy Sex Reversal 7
|
|
Gonadal Dysgenesis, Xy, Male Limited
|
Complete Pure Gonadal Dysgenesis 46,Xy Type
|
|
Male-Limited Gonadal Dysgenesis 46,Xy
|
46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
|
|
|
| Leukodystrophy |
|
|
| 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
|
|
|
| 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
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Respiratory Failure |
|
Acute Respiratory Failure
|
Chronic Respiratory Failure
|
|
Respiratory Insufficiency
|
Acute-On-Chronic Respiratory Failure
|
|
Respiratory Disease
|
Acute And Chronic Respiratory Failure
|
|
Respiratory Insufficiency/Failure
|
Chronic Respiratory Disease
|
|
Pulmonary Valve Insufficiency
|
Chronic Disease Of Respiratory System
|
|
Respiration Disorders
|
Respiratory Tract Diseases
|
|
Lung Failure Nos
|
Pulmonary Failure
|
|
Arf - [Acute Respiratory Failure]
|
Acute Respiratory Insufficiency
|
|
Acute Pulmonary Insufficiency
|
Acute Respiration Failure
|
|
Chronic Respiration Failure
|
|
|
| Dystonia 24 |
|
DYT24
|
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
|
|
Dystonia-24
|
Dystonia, Type 24
|
|
|
| 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
|
|
|
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
|
DDCH
|
|
Cadds
|
Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome
|
|
Contiguous Abcd1 Dxs1357e Deletion Syndrome
|
Zellweger-Like Contiguous Gene Deletion Syndrome
|
|
Contiguous Abcd1/Dxs1375e Deletion Syndrome
|
Deafness, Dystonia, Cerebral Hypomyelination
|
|
Contiguous Abcd1-Dxs1375e Deletion Syndrome
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| Leukodystrophy, Hypomyelinating, 5 |
|
Hypomyelination And Congenital Cataract
|
HLD5
|
|
Hypomyelination-Congenital Cataract Syndrome
|
Hypomyelinating Leukodystrophy 5
|
|
Hcc
|
Hypomyelination And Congenital Cataract: Hcc
|
|
Hypomyelination - Congenital Cataract
|
Hypomyelination With Congenital Cataract
|
|
|
| Chronic Progressive External Ophthalmoplegia |
|
Progressive External Ophthalmoplegia
|
Cpeo
|
|
Peo
|
Ophthalmoplegia, Chronic Progressive External
|
|
Ophthalmoplegia, External, Progressive, Chronic
|
Graefe Disease
|
|
Peo - [Progressive External Ophthalmoplegia]
|
Ophthalmoplegia Plus Syndrome
|
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
Alpers Syndrome
|
Alpers-Huttenlocher Syndrome
|
|
Alpers Progressive Infantile Poliodystrophy
|
Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
|
|
Alpers Disease
|
Progressive Sclerosing Poliodystrophy
|
|
Pndc
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
MTDPS4A
|
Neuronal Degeneration Of Childhood With Liver Disease, Progressive
|
|
Alper'S Syndrome
|
Alpers' Disease Or Gray-Matter Degeneration
|
|
Diffuse Cerebral Degeneration In Infancy
|
Infantile Poliodystrophy
|
|
Poliodystrophia Cerebri Progressiva
|
Progressive Cerebral Poliodystrophy
|
|
Alpers' Disease
|
Alpers Progressive Sclerosing Poliodystrophy
|
|
Progressive Neuronal Degeneration Of Childhood With Liver Disease
|
Ahs
|
|
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
|
Neuronal Degeneration Of Childhood With Liver Disease Progressive
|
|
|
| Cardiomyopathy, Infantile Hypertrophic |
|
Infantile Hypertrophic Cardiomyopathy
|
CMHI
|
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Leigh Syndrome, French Canadian Type
|
Mitochondrial Complex V Deficiency Nuclear Type 4
|
|
Cytochrome C Oxidase Deficiency, French Canadian Type
|
Lsfc
|
|
Cox Deficiency, French Canadian Type
|
MC5DN4
|
|
MC4DN5
|
Cox Deficiency, Saguenay-Lac-Saint-Jean Type
|
|
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type
|
Mitochondrial Complex V Deficiency, Nuclear Type 4
|
|
French Canadian Leigh Disease
|
Leigh Syndrome, French-Canadian Type
|
|
Leigh Syndrome , French Canadian Type
|
Mitochondrial Complex V Deficiency, Atp5a1 Type
|
|
French Canadian Type Cox Deficiency
|
French Canadian Type Cytochrome C Oxidase Deficiency
|
|
French Canadian Type Leigh Syndrome
|
Saguenay Lac Saint Jean Type Cox Deficiency
|
|
Saguenay Lac Saint Jean Type Leigh Syndrome
|
Cox Deficiency, Saguenay Lac Saint Jean Type
|
|
Leigh Syndrome, Saguenay Lac Saint Jean Type
|
Mitochondrial Complex V Deficiency, Nuclear Type 4
|
|
Mitochondrial Complex V Deficiency Atp5a1 Type
|
Mitochondrial Complex V Deficiency Type 4
|
|
Mitochondrial Complex V Deficiency, Nuclear, Type 4
|
|
|
| Encephalopathy, Ethylmalonic |
|
Ethylmalonic Encephalopathy
|
EE
|
|
Epema Syndrome
|
Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
Ethe1 Deficiency
|
Eme
|
|
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
|
| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| Mitochondrial Dna Depletion 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
|
|
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
|
|
|
| 3-Methylglutaconic Aciduria |
|
3-Methyl Glutaconic Aciduria
|
|
|
| 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
|
|
Myoclonus Epilepsy And Ragged Red Fibers
|
Myoclonus With Epilepsy And With Ragged Red Fibers
|
|
Myoclonic Epilepsy With Ragged Red Fibers
|
Myoclonic Epilepsy With Ragged-Red Fibers
|
|
Fukuhara Disease
|
Myoclonus Epilepsy Associated With Ragged-Red Fibres
|
|
Myoclonus With Epilepsy With Ragged Red Fibers
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| Ocular Motility Disease |
|
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
|
Eye Movement Disorders
|
|
|
| Mitochondrial Complex Ii Deficiency |
|
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency
|
Isolated Succinate-Coenzyme Q Reductase Deficiency
|
|
Isolated Succinate-Coq Reductase Deficiency
|
Isolated Succinate-Ubiquinone Reductase Deficiency
|
|
Mitochondrial Respiratory Chain Complex Ii Deficiency
|
Complex 2 Mitochondrial Respiratory Chain Deficiency
|
|
Succinate Coq Reductase Deficiency
|
Succinate Dehydrogenase Deficiency
|
|
Isolated Succinate Dehydrogenase Deficiency
|
Succinate-Coenzyme Q Reductase Deficiency
|
|
|
| Barth Syndrome |
|
3-Methylglutaconic Aciduria Type 2
|
BTHS
|
|
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
|
Mga Type Ii
|
|
Mga2
|
Mgca2
|
|
Mga Type 2
|
3-Methylglutaconic Aciduria Type Ii
|
|
3-Methylglutaconic Aciduria, Type Ii
|
Mga, Type Ii
|
|
3-Methylglutaconicaciduria Type 2
|
3-Methylglutaconicaciduria Type Ii
|
|
Taz Defect
|
3 Methylglutaconic Aciduria, Type Ii
|
|
Dnajc19 Defect
|
Cardioskeletal Myopathy-Neutropenia Syndrome
|
|
X-Linked Cardioskeletal Myopathy And Neutropenia
|
3-Alpha-Methylglutaconic Aciduria Type 2
|
|
Agm2
|
Cardioskeletal Myopathy-Neutropenia
|
|
Invm
|
Left Ventricular Non-Compaction Isolated X-Linked
|
|
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked
|
Agammaglobulinemia 2, Autosomal Recessive
|
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
|
Epm5
|
Miras
|
|
SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
|
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
|
Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
|
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
|
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
|
Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
|
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
|
Ataxia Neuropathy Spectrum
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
