| 疾病名称 |
别名 |
|
| Combined Oxidative Phosphorylation Deficiency 8 |
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COXPD8
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Combined Oxidative Phosphorylation Defect Type 8
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Cardiomyopathy, Hypertrophic Mitochondrial, Fatal Infantile
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Cardiomyopathy Hypertrophic Mitochondrial Fatal Infantile
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Combined Oxidative Phosphorylation Deficiency, Type 8
|
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| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
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| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
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Hereditary Diffuse Leukoencephalopathy With Spheroids
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Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
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Alsp
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Gpsc
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Subcortical Gliosis Of Neumann
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Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1
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Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids
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Hdls
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HDLS1
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Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia
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Gliosis, Familial Progressive Subcortical
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Leukoencephalopathy, Diffuse Hereditary, With Spheroids
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Pold
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Pigmentary Orthochromatic Leukodystrophy
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Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
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Familial Progressive Subcortical Gliosis
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Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
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Dementia, Familial, Neumann Type
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Adult-Onset Leukodystrophy With Neuroaxonal Spheroids
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Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
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Neuroaxonal Leukodystrophy
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Fpsg
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Familial Dementia, Neumann Type
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Familial Dementia Neumann Type
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Leukoencephalopathy, Diffuse Hereditary, With Spheroid
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| Leukoencephalopathy With Vanishing White Matter |
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Cree Leukoencephalopathy
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Vanishing White Matter Disease
|
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Ovarioleukodystrophy
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Vanishing White Matter Leukodystrophy
|
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Childhood Ataxia With Central Nervous System Hypomyelinization
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Cach
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Cach Syndrome
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Myelinosis Centralis Diffusa
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VWM
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Cle
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Childhood Ataxia With Central Nervous System Hypomyelination
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Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
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Cach/Vwm
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Cach/Vwm Syndrome
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Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter
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Cree Leukoencehalopathy
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Late Infantile Cach Syndrome
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Juvenile Or Adult Cach Syndrome
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Congenital Or Early Infantile Cach Syndrome
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Leukodystrophy With Vanishing White Matter
|
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| Combined Oxidative Phosphorylation Deficiency |
|
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| Combined Oxidative Phosphorylation Deficiency 12 |
|
COXPD12
|
Ltbl
|
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Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate
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Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome
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Combined Oxidative Phosphorylation Defect Type 12
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Combined Oxidative Phosphorylation Deficiency, Type 12
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| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
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Charcot-Marie-Tooth Disease Axonal Type 2n
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CMT2N
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
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Charcot-Marie-Tooth Neuropathy Axonal Type 2n
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Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
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Charcot-Marie-Tooth Disease 2n
|
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
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Charcot-Marie-Tooth Disease, Type 2n
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| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Charcot-Marie-Tooth Disease Recessive Intermediate B
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CMTRIB
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Ri-Cmtb
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Charcot-Marie-Tooth Disease, Recessive Intermediate, B
|
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Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
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Charcot-Marie-Tooth Neuropathy Recessive Intermediate B
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Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
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Ri-Cmt Type B
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Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
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| Mitochondrial Complex V Deficiency, Nuclear Type 5 |
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Mitochondrial Complex V Deficiency
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MC5DN5
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Mitochondrial Complex V Deficiency, Atp5f1d Type
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Mitochondrial Complex V Deficiency
|
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Mitochondrial Complex 5 Deficiency Nuclear Type 5
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Complex 5 Mitochondrial Respiratory Chain Deficiency
|
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Atp Synthase Deficiency
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Mitochondrial Complex V Deficiency, Nuclear Type 5
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Complex V Deficiency
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia |
|
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| Mitochondrial Disease |
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Mitochondrial Diseases
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Mitochondrial Disorder
|
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| Gait Apraxia |
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| Neuronopathy, Distal Hereditary Motor, Type Va |
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Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
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Young Adult-Onset Distal Hereditary Motor Neuropathy
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Neuronopathy, Distal Hereditary Motor, Type V
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Distal Hereditary Motor Neuronopathy Type 5
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Dhmn5
|
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Distal Spinal Muscular Atrophy Type 5
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HMN5A
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Hmn5
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Dhmn5a
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Dhmn Va
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Dsmava
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Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
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Distal Hmn V
|
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
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Dsma5
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Young Adult-Onset Dhmn
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Dhmn-V
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Hmn V
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Neuronopathy, Distal Hereditary Motor, Type 5a
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Hmn 5a
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Neuropathy, Distal Hereditary Motor, Type Va
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Spinal Muscular Atrophy, Distal, Type Va
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Spinal Muscular Atrophy, Distal, Type V
|
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Distal Spinal Muscular Atrophy Type V
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Distal Spinal Muscular Atrophy With Upper Limb Predominance
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Distal Hereditary Motor Neuronopathy Type 5a
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Distal Hmn Va
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Distal Spinal Muscular Atrophy Type Va
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Distal Hereditary Motor Neuropathy, Type V
|
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Distal Hereditary Motor Neuronopathy, Type V
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Distal Spinal Muscular Atrophy, Type V
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Spinal Muscular Atrophy, Distal Type V
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Distal Hereditary Motor Neuropathy Type 5
|
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Neuronopathy, Distal Hereditary Motor, 5a
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Dhmn V
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Distal Hereditary Motor Neuronopathy Type Va
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Distal Hereditary Motor Neuropathy Type Va
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Dsma-V
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Hmn Va
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Spinal Muscular Atrophy Distal Type V
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Spinal Muscular Atrophy Distal Type Va
|
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Spinal Muscular Atrophy Distal With Upper Limb Predominance
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Neuropathy, Distal Hereditary Motor, Type V
|
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Neuropathy, Motor, Distal, Hereditary, Type Va
|
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| Pontocerebellar Hypoplasia, Type 6 |
|
Pontocerebellar Hypoplasia Type 6
|
PCH6
|
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Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects
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Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects
|
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Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects
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Pontocerebellar Hypoplasia 6
|
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Hypoplasia, Pontocerebellar, Type 6
|
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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
|
|
|
| Perrault Syndrome |
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Gonadal Dysgenesis, Xx Type, With Deafness
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Ovarian Dysgenesis With Sensorineural Deafness
|
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Gonadal Dysgenesis, Xx Type
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Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
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Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
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Xx Gonodal Dysgenesis-Deafness Syndrome
|
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Xx Gonodal Dysgenesis-Hearing Loss Syndrome
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Gonadal Dysgenesis Xx Type Deafness
|
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| Cerebral Degeneration |
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Brain Degeneration
|
Degenerative Brain Disorder
|
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| Metachromatic Leukodystrophy |
|
Arylsulfatase A Deficiency
|
MLD
|
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Arsa Deficiency
|
Sulfatide Lipidosis
|
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Metachromatic Leukoencephalopathy
|
Cerebral Sclerosis, Diffuse, Metachromatic Form
|
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Cerebroside Sulfatase Deficiency
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Leukodystrophy, Metachromatic
|
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Pseudoarylsulfatase A Deficiency
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Leukodystrophy Metachromatic
|
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Sulfatidosis
|
Metachromatic Leukodystrophy, Late Infantile
|
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Metachromatic Leukodystrophy Variant
|
Deficiency Of Cerebroside-Sulfatase
|
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Scholz Cerebral Sclerosis
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Sulfatide Lipoidosis
|
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Cerebral Sclerosis Diffuse Metachromatic Form
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Arylsulfatase A Deficiency Disease
|
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Cerebroside Sulphatase Deficiency Disease
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Greenfield Disease
|
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Metachromatic Leukodystrophy, Adult
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Metachromatic Leukodystrophy, Juvenile
|
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Leukodystrophy Metachromatic Adult
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Leukodystrophy Metachromatic Juvenile
|
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Leukodystrophy Metachromatic Late Infantile
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Metachromatic Leukodystrophy, Adult Type
|
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Metachromatic Leukodystrophy, Juvenile Type
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Metachromatic Leukodystrophy, Infant
|
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Greenfield'S Disease
|
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| Canavan Disease |
|
Aspartoacylase Deficiency
|
Aminoacylase 2 Deficiency
|
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Spongy Degeneration Of Central Nervous System
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Aspa Deficiency
|
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Acy2 Deficiency
|
Canavan-Van Bogaert-Bertrand Disease
|
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Mild Canavan Disease
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Asp Deficiency
|
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Spongy Degeneration Of The Central Nervous System
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Severe Canavan Disease
|
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Von Bogaert-Bertrand Disease
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Canavan'S Disease
|
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Spongy Degeneration Of The Brain
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Juvenile Canavan Disease
|
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Infantile Canavan Disease
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Neonatal Canavan Disease
|
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CAND
|
Disease, Canavan
|
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Canavan Disease, Juvenile
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Canavan Disease, Infantile
|
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Canavan Disease, Neonatal
|
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| Pontocerebellar Hypoplasia |
|
Pch
|
Congenital Pontocerebellar Hypoplasia
|
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Opch
|
Hypoplasia, Pontocerebellar
|
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Pontoneocerebellar Hypoplasia
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Nonsyndromic Pontocerebellar Hypoplasia
|
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| Leukodystrophy |
|
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| Hypomyelinating Leukodystrophy |
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Hld
|
Leukodystrophy, Hypomyelinating
|
|
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| Mitochondrial Myopathy |
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Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
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Myopathies In Mitochondrial Disorders
|
|
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| Spastic Ataxia |
|
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| 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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