| 疾病名称 |
别名 |
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| Mohr-Tranebjaerg Syndrome |
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Deafness-Dystonia-Optic Neuronopathy Syndrome
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Jensen Syndrome
|
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Deafness Dystonia Syndrome
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MTS
|
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Dds
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Deafness-Dystonia-Optic Atrophy Syndrome
|
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Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
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Opticoacoustic Nerve Atrophy With Dementia
|
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Dystonia-Deafness Syndrome
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Ddp
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Ddon Syndrome
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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
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Ddon
|
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Deafness - Dystonia - Optic Neuronopathy Syndrome
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Deafness-Dystonia-Optic Neuronopathy Syndrome
|
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Hearing Loss-Dystonia-Optic Neuronopathy Syndrome
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Dfn-1
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X-Linked Progressive Deafness Type 1
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| Focal Dystonia |
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Dystonia, Focal, Task-Specific
|
|
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| Dystonia |
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Dystonic Disease
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Dystonic Disorder
|
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Dystonia Disorders
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Neuroleptic Dyskinesia
|
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| Cortical Blindness |
|
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| Blepharospasm |
|
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| Isthmus Cancer |
|
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| Aniseikonia |
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| Mitochondrial Disease |
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Mitochondrial Diseases
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Mitochondrial Disorder
|
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| Deafness, X-Linked 1 |
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DFNX1
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Dfn2
|
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Deafness, X-Linked 2, Sensorineural Congenital
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X-Linked Deafness 1
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X-Linked Sensorineural Congenital Deafness 2
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Deafness, X-Linked, 1
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Congenital Sensorineural Deafness X-Linked 2
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Deafness, X-Linked, Type 1
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|
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| Agammaglobulinemia |
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Hypogammaglobulinemia
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Ighm
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Mu Heavy Chain Deficiency
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Mu-Heavy Chain Disease
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Mu-Hcd
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Mu-Chain Disease
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|
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| Deafness, X-Linked 7 |
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X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome
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DFNX7
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X-Linked Deafness 7
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Deafness, X-Linked, 7
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|
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| X-Linked Nonsyndromic Deafness |
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X-Linked Deafness
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Deafness, X-Linked
|
|
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| Mitochondrial Metabolism Disease |
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Abnormality Of Mitochondrial Metabolism
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Mitochondrial Diseases
|
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| Deafness, X-Linked 4 |
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DFNX4
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Dfn6
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Deafness, Nonsyndromic Sensorineural Progressive 6
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X-Linked Deafness 4
|
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Deafness, X-Linked 6, Progressive
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Nonsyndromic Sensorineural Progressive Deafness 6
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X-Linked Progressive Deafness 6
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Deafness, X-Linked, 4
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Deafness Nonsyndromic Sensorineural Progressive 6
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Deafness X-Linked 6 Progressive
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Deafness, X-Linked, Type 4
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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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| Visual Cortex Disease |
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Visual Cortex Dysfunction
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Visual Cortex Disorder
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Visual Cortical Disorder
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Disease Of Visual Cortex
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|
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| 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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| Deafness, X-Linked 2 |
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Progressive Deafness With Stapes Fixation
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DFNX2
|
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Dfn3
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Nance Deafness
|
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Perilymphatic Gusher-Deafness Syndrome
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Stapedo-Vestibular Ankylosis
|
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Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
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X-Linked Deafness 2
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X-Linked Mixed Conductive And Neurosensory Deafness
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X-Linked Mixed Conductive And Sensorineural Deafness
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Deafness 3 Conductive With Stapes Fixation
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Deafness Conductive With Stapes Fixation
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Deafness Mixed With Perilymphatic Gusher
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Thies-Reis Syndrome
|
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Deafness, Conductive, With Stapes Fixation
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Deafness 3, Conductive, With Stapes Fixation
|
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Deafness, Mixed, With Perilymphatic Gusher
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Conductive Deafness 3 With Stapes Fixation
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Conductive Deafness With Stapes Fixation
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Mixed Deafness With Perilymphatic Gusher
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X-Linked Deafness Type 2
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X-Linked Mixed Conductive And Neurosensory Hearing Loss
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X-Linked Mixed Conductive And Sensorineural Hearing Loss
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X-Linked Sensorineural Deafness
|
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X-Linked Stapes Gusher Syndrome
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Deafness Mixed With Perilymphatic Gusher, X-Linked
|
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Dfn 3 Nonsyndromic Hearing Loss And Deafness
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Gusher Syndrome
|
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Thies Reis Syndrome
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Progressive Hearing Loss With Stapes Fixation
|
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Deafness, X-Linked, 2
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Deafness Mixed With Perilymph Gusher X-Linked
|
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Deafness, X-Linked, Type 2
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Progressive Hearing Loss Stapes Fixation
|
|
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| Visual Pathway Disease |
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Disorder Of Visual Pathways
|
|
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| Cornelia De Lange Syndrome 1 |
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De Lange Syndrome
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CDLS1
|
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Cdl
|
Cdls
|
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Typus Degenerativus Amstelodamensis
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Brachmann-De Lange Syndrome
|
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Bdls
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Amstelodamensis Typus Degenerativus
|
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Cornelia De Lange Syndrome, Type 1
|
|
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| 3-Methylglutaconic Aciduria |
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3-Methyl Glutaconic Aciduria
|
|
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| Sengers Syndrome |
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Mitochondrial Dna Depletion Syndrome 10
|
Cardiomyopathy And Cataract
|
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Cataract And Cardiomyopathy
|
MTDPS10
|
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Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
|
Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10
|
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Senger Syndrome
|
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| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
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Sensorineural Deafness
|
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
|
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Central Hearing Loss
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High Frequency Deafness
|
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
|
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Perceptive Deafness
|
Perceptive Hearing Loss
|
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
|
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Deafness Sensorineural
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Hearing Loss High-Frequency
|
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Hearing Loss, Central
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Hearing Loss, High-Frequency
|
|
|
| Woodhouse-Sakati Syndrome |
|
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome
|
Woodhouse Sakati Syndrome
|
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Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome
|
WDSKS
|
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Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia
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Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
|
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Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia
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Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
|
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Neuroectodermal Endocrine Syndrome
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Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
|
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Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome
|
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
|
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Wss
|
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| Amme Complex |
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Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis
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ATS-MR
|
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Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
|
Chromosome Xq22.3 Telomeric Deletion Syndrome
|
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Amme Syndrome
|
Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
|
|
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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
|
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Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation
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Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
|
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Nadmr
|
Namsd
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
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| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
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LHON
|
Leber'S Hereditary Optic Neuropathy
|
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Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
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LOAM
|
Loas
|
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Leber'S Disease
|
Leber'S Optic Neuropathy
|
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
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Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
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Leber Hereditary Optic Atrophy
|
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
|
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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| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
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Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
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Hsp
|
Spg
|
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Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
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French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
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Fsp
|
Spastic Paraplegia, Familial
|
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Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
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Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
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