| 疾病名称 |
别名 |
|
| 3-Methylglutaconic Aciduria, Type V |
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3-Methylglutaconic Aciduria Type 5
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Mga5
|
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MGCA5
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Dcma
|
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Dcma Syndrome
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Dilated Cardiomyopathy With Ataxia
|
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3-Methylglutaconic Aciduria Type V
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Mga Type V
|
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Cardiomyopathy, Dilated, With Ataxia
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Mga, Type V
|
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Dilated Cardiomyopathy With Ataxia Syndrome
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Dnajc19 Defect
|
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3-Methylglutaconic Aciduria 5
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3-Alpha-Methylglutaconic Aciduria Type 5
|
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3-@Methylglutaconic Aciduria, Type V
|
|
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| 3-Methylglutaconic Aciduria |
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3-Methyl Glutaconic Aciduria
|
|
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| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
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Megdel Syndrome
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MEGDEL
|
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Mgca6
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3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome
|
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Megdhel
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3-Methylglutaconic Aciduria, Type Vi
|
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Serac1 Defect
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3-Methylglutaconic Aciduria Type 6
|
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3-Mgca Type Iv
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3-Mgca-4
|
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3-Methylglutaconic Aciduria Type Vi
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3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome
|
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Megdhel Syndrome
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3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome
|
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3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome
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3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome
|
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3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
|
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| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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SMDMDM
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Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type
|
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Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type
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Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type
|
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Chondrodysplasia, Megarbane-Dagher-Melki Type
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Megarbane-Dagher-Melike Type Chondrodysplasia
|
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Chondrodysplasia, Megarbane-Dagher-Melike Type
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Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
|
|
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| Deafness, Dystonia, And Cerebral Hypomyelination |
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Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
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DDCH
|
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Cadds
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Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome
|
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Contiguous Abcd1 Dxs1357e Deletion Syndrome
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Zellweger-Like Contiguous Gene Deletion Syndrome
|
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Contiguous Abcd1/Dxs1375e Deletion Syndrome
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Deafness, Dystonia, Cerebral Hypomyelination
|
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Contiguous Abcd1-Dxs1375e Deletion Syndrome
|
|
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| Sengers Syndrome |
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Mitochondrial Dna Depletion Syndrome 10
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Cardiomyopathy And Cataract
|
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Cataract And Cardiomyopathy
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MTDPS10
|
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Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
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Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10
|
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Senger Syndrome
|
|
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| Combined Oxidative Phosphorylation Deficiency 31 |
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Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome
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COXPD31
|
|
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| 3-Methylglutaconic Aciduria, Type I |
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3-Methylglutaconyl-Coa Hydratase Deficiency
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3-Methylglutaconic Aciduria Type 1
|
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Mga1
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MGCA1
|
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3mg-Coa Hydratase Deficiency
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Mga Type I
|
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Mga, Type I
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3-Mg-Coa-Hydratase Deficiency
|
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3 Methylglutaconyl Coa Hydratase Deficiency
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3-Methylglutaconic Aciduria Type I
|
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3 Alpha Methylglutaconic Aciduria Type I
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3 Methylglutaconic Aciduria Type 1
|
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3-Mgca Type I
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3mg Coa Hydratase Deficiency
|
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Auh Defect
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Primary 3-Methylglutaconic Aciduria
|
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3-Methylglutaconic Aciduria 1
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3-Alpha-Methylglutaconic Aciduria Type 1
|
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3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency
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3-@Methylglutaconic Aciduria, Type I
|
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Megaloblastic Anemia Due To Inborn Errors Of Metabolism
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|
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| 3-Methylglutaconic Aciduria, Type Iii |
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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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| Dilated Cardiomyopathy |
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Familial Dilated Cardiomyopathy
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Primary Dilated Cardiomyopathy
|
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Idiopathic Dilated Cardiomyopathy
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Congestive Cardiomyopathy
|
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Idiopathic Dilation Cardiomyopathy
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Primary Familial Dilated Cardiomyopathy
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Cardiomyopathy, Dilated
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DCM
|
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Cardiomyopathy, Familial Dilated
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Dilated Cardiomyopathy, Familial
|
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Hypokinetic Dilated Cardiomyopathy, Familial
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Familial Idiopathic Cardiomyopathy
|
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Fdc
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Cardiomyopathy, Familial Idiopathic
|
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Idiopathic Cardiomegaly
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Dilated Congestive Cardiomyopathy
|
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Chronic Dilated Cardiomyopathy
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Ccm - [Congestive Cardiomyopathy]
|
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Cocm - [Congestive Cardiomyopathy]
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Dcm - [Dilated Cardiomyopathy]
|
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Dilated-Hypokinetic Cardiomyopathy
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Congestive Idiopathic Cardiomyopathy
|
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Primary Idiopathic Dilated Cardiomyopathy
|
|
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| Mohr-Tranebjaerg Syndrome |
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
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Jensen Syndrome
|
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Deafness Dystonia Syndrome
|
MTS
|
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Dds
|
Deafness-Dystonia-Optic Atrophy Syndrome
|
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Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
|
Opticoacoustic Nerve Atrophy With Dementia
|
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Dystonia-Deafness Syndrome
|
Ddp
|
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Ddon Syndrome
|
Mohr-Tranebjærg Syndrome
|
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Deafness Dystonia Optic Atrophy Syndrome
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Deafness Dystonia Optic Neuronopathy Syndrome
|
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Dystonia Deafness Syndrome
|
Ddon
|
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Deafness - Dystonia - Optic Neuronopathy Syndrome
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
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Hearing Loss-Dystonia-Optic Neuronopathy Syndrome
|
Dfn-1
|
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X-Linked Progressive Deafness Type 1
|
|
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| Barth Syndrome |
|
3-Methylglutaconic Aciduria Type 2
|
BTHS
|
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Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
|
Mga Type Ii
|
|
Mga2
|
Mgca2
|
|
Mga Type 2
|
3-Methylglutaconic Aciduria Type Ii
|
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3-Methylglutaconic Aciduria, Type Ii
|
Mga, Type Ii
|
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3-Methylglutaconicaciduria Type 2
|
3-Methylglutaconicaciduria Type Ii
|
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Taz Defect
|
3 Methylglutaconic Aciduria, Type Ii
|
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Dnajc19 Defect
|
Cardioskeletal Myopathy-Neutropenia Syndrome
|
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X-Linked Cardioskeletal Myopathy And Neutropenia
|
3-Alpha-Methylglutaconic Aciduria Type 2
|
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Agm2
|
Cardioskeletal Myopathy-Neutropenia
|
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Invm
|
Left Ventricular Non-Compaction Isolated X-Linked
|
|
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked
|
Agammaglobulinemia 2, Autosomal Recessive
|
|
|
| Combined Oxidative Phosphorylation Deficiency 4 |
|
COXPD4
|
Combined Oxidative Phosphorylation Defect Type 4
|
|
Combined Oxidative Phosphorylation Deficiency, Type 4
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
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Organic Acid Metabolism Disorder
|
Organic Acidemias
|
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Inherited Organic Acidemia
|
Organic Acidurias
|
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Aciduria Organic
|
|
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| 3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaconic Aciduria Type 4
|
Mga4
|
|
MGCA4
|
3-Methylglutaconic Aciduria Type Iv
|
|
Mga, Type Iv
|
Mga Type Iv
|
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Not Otherwise Specified 3-Mga-Uria Type
|
3 Alpha Methylglutaconic Aciduria Type Iv
|
|
3 Methylglutaconic Aciduria Type Iv
|
|
|
| Cardiomyopathy, Dilated, 1h |
|
Dilated Cardiomyopathy 1h
|
Dilated Cardiomyopathy With Conduction Defect
|
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CMD1H
|
Cardiomyopathy, Dilated, With Conduction Defect
|
|
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| Mitochondrial Dna Depletion Syndrome |
|
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| Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
|
Cmt4x
|
Cmtx4
|
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Cowchock Syndrome
|
X-Linked Charcot-Marie-Tooth Disease Type 4
|
|
Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation
|
Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
|
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Nadmr
|
Namsd
|
|
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| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
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Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
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| Left Ventricular Noncompaction |
|
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
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Lvnc
|
Spongy Myocardium
|
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Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
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Fetal Myocardium
|
Honeycomb Myocardium
|
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
|
Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
|
Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
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