| 疾病名称 |
别名 |
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| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant |
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SMALED2A
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Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Autosomal Dominant
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Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
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Bicd2-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
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Smaled2
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Spinal Muscular Atrophy, Lower Extremity-Predominant 2a, Childhood Onset, Autosomal Dominant
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| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant |
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Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Autosomal Dominant
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SMALED2B
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| Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 |
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Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
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Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
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Smaled2
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Spinal Muscular Atrophy, Lower Extremity-Predominant 2, Autosomal Dominant
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Atrophy, Muscular, Spinal, Lower Extremity Predominant, Type 2, Autosomal Dominant
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| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
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Autosomal Dominant Distal Hereditary Motor Neuropathy
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Autosomal Dominant Dhmn
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Autosomal Dominant Distal Spinal Muscular Atrophy
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| Muscular Atrophy |
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Muscle Wasting
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Amyotrophia
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Wasting - Muscle
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Skeletal Muscle Atrophy
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| Distal Arthrogryposis |
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Arthrogryposis Multiplex Congenita
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Arthrogryposis
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Congenital Multiple Arthrogryposis
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Congenital Arthromyodysplasia
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Fibrous Ankylosis Of Multiple Joints
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Guerin-Stern Syndrome
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Guérin-Stern Syndrome
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Myodystrophia Fetalis Deformans
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Otto Syndrome
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Rocher-Sheldon Syndrome
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Rossi Syndrome
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Amc
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Multiple Congenital Arthrogryposis
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Arthrogryposis Syndrome
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Arthrogryposis, Distal
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Distal Arthrogryposis Syndrome
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Freeman-Sheldon Syndrome
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Arthrogryposis, Distal, Type 2b
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Congenital Multiplex Arthrogryposis
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Amyoplasia Congenita
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Congenital Amyoplasia
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Amc - [Arthrogryposis Multiplex Congenita]
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| Spinal Muscular Atrophy |
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Sma
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5q Sma
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Proximal Sma
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Sma-Associated Sma
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Spinal Amyotrophies
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Spinal Amyotrophy
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Spinal Muscle Degeneration
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Spinal Muscle Wasting
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Muscular Atrophy Spinal
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Atrophy, Muscular, Spinal
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Hereditary Motor Neuronopathy
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Progressive Muscular Atrophy
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Sma - [Spinal Muscular Atrophy]
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| Spinal Muscular Atrophy With Lower Extremity Predominant |
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Spinal Muscular Atrophy With Lower Extremity Predominance
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Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
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Kugelberg-Welander Syndrome, Autosomal Dominant
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Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
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Sma-Led
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Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
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Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
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Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant
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Spinal Muscular Atrophy, Lower Extremity, Dominant
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| Myopathy |
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Muscular Diseases
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Myopathies
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| Perry Syndrome |
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Parkinsonism With Alveolar Hypoventilation And Mental Depression
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PERRYS
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| Intellectual Developmental Disorder, Autosomal Dominant 13 |
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MRD13
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Mental Retardation, Autosomal Dominant 13
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Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects
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Autosomal Dominant Non-Syndromic Intellectual Disability 13
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Autosomal Dominant Intellectual Developmental Disorder 13
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Autosomal Dominant Mental Retardation 13
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Mental Retardation, Autosomal Dominant, Type 13
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| Spastic Ataxia 2 |
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| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Complex Cortical Dysplasia With Other Brain Malformations 2
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CDCBM2
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Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 2
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| Spinal Muscular Atrophy, Type Ii |
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SMA2
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Sma Ii
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Muscular Atrophy, Spinal, Intermediate Type
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Muscular Atrophy, Spinal, Infantile Chronic Form
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Intermediate Spinal Muscular Atrophy
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Spinal Muscular Atrophy Type Ii
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Spinal Muscular Atrophy-2
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Spinal Muscular Atrophy 2
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Spinal Muscular Atrophy Type 2
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Dubowitz Disease
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Proximal Spinal Muscular Atrophy Type 2
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Sma Type 2
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Sma Type Ii
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Sma-Ii
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Spinal Muscular Atrophy Infantile Chronic Form
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Spinal Muscular Atrophy Intermediate Type
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Spinal Muscular Atrophies Of Childhood
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Atrophy, Muscular, Spinal, Type Ii
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Muscular Atrophy, Spinal, Type Ii
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| Neuronopathy, Distal Hereditary Motor, Type Viib |
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HMN7B
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Hmn Viib
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Dhmn7b
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Neuropathy, Distal Hereditary Motor, Type Viib
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Distal Hereditary Motor Neuronopathy Type 7b
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Distal Hereditary Motor Neuropathy Type Viib
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Neuronopathy, Distal Hereditary Motor, Type 7b
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Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib
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Lower Motor Neuron Disease, Dynactin Type
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Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b
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Harper-Young Myopathy
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Neuronopathy, Distal Hereditary Motor, 7b
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Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib
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Lower Motor Neuron Disease Dynactin Type
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Plmnd
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Progressive Lower Motor Neuron Disease
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Neuropathy, Motor, Distal, Hereditary, Type Viib
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| Polymicrogyria |
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| Motor Neuron Disease |
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Anterior Horn Cell Disease
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Motor Neuron Diseases
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Mnd - [Motor Neurone Disease]
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Lou Gehrig Disease
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Creeping Palsy
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Creeping Paralysis
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Bulbar Motor Neuron Disease
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Bulbar Syndrome
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Anterior Horn Cell Disorder
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Hereditary Motor Neuron Disease
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| Hereditary Spastic Paraplegia |
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Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
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Strumpell-Lorrain Disease
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Familial Spastic Paraparesis
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Hsp
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Spg
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Strümpell-Lorrain Disease
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Spastic Paraplegia, Hereditary
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French Settlement Disease
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Strumpell-Lorrain Syndrome
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Fsp
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Spastic Paraplegia, Familial
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Spastic Paraplegia Hereditary
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Spastic Paraplegia 3, Autosomal Dominant
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Spastic Paraparesis
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Hereditary Spastic Paralysis
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Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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| Distal Hereditary Motor Neuronopathy Type 7 |
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Dhmn7
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Dhmnvpy
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Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
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| Motor Peripheral Neuropathy |
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Motor Neuritis
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Peripheral Motor Neuropathy
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Hereditary Motor And Sensory Neuropathy
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Hsmn
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Hsmn - Hereditary Sensory And Motor Neuropathy
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Neuropathic Muscular Atrophy
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Hereditary Sensory And Motor Neuropathy
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Hereditary Motor And Sensory Neuropathies
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| Polymicrogyria, Bilateral Perisylvian, X-Linked |
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Bilateral Perisylvian Polymicrogyria
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Polymicrogyria, Bilateral Perisylvian
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Pmgx
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Perisylvian Syndrome, Congenital Bilateral
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Cbps
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Congenital Bilateral Perisylvian Syndrome
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Perisylvian Syndrome
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BPPX
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Bpp
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| Childhood Spinal Muscular Atrophy |
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Spinal Muscular Atrophies Of Childhood
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Survival Motor Neuron Spinal Muscular Atrophy
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| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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Charcot-Marie-Tooth Disease Type 2
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CMT2E
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CMT2S
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CMT2Y
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Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease Axonal Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2s
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Charcot-Marie-Tooth Disease, Type 2e
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Hereditary Motor And Sensory Neuropathy Type 2
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Charcot-Marie-Tooth Neuropathy, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2y
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
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Charcot-Marie-Tooth Neuropathy, Type 2y
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Charcot-Marie-Tooth Disease, Type 2y
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Neuropathy Type 2e
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
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Cmt2 Due To Vcp Mutation
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Charcot-Marie-Tooth Disease Type 2s
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
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Cmt2
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Charcot-Marie-Tooth Neuropathy, Type 2e
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Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
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Hereditary Motor And Sensory Neuropathy Okinawa Type
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Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
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Charcot-Marie-Tooth Neuropathy Type 2y
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Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
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Charcot-Marie-Tooth Neuropathy Type 2s
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Charcot-Marie-Tooth Type 2
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease 2e
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Charcot-Marie-Tooth Disease Axonal Type 2e
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Charcot-Marie-Tooth Disease Neuronal Type 2e
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Charcot-Marie-Tooth Disease 2s
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Charcot-Marie-Tooth Neuropathy Axonal Type 2s
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Charcot-Marie-Tooth Disease 2y
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Charcot-Marie-Tooth Disease, Type 2
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Hereditary Motor And Sensory-Neuropathy Type Ii
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| Scapuloperoneal Spinal Muscular Atrophy |
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SPSMA
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Amyotrophy, Neurogenic Scapuloperoneal, New England Type
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Neurogenic Scapuloperoneal Amyotrophy, New England Type
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Scapuloperoneal Neuronopathy
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Spinal Muscular Atrophy, Scapuloperoneal
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Amyotrophy Neurogenic Scapuloperoneal New England Type
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Muscular Atrophy, Spinal
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Scapuloperoneal Form Of Spinal Muscular Atrophy
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| Mitochondrial Dna Depletion Syndrome 3 |
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Deoxyguanosine Kinase Deficiency
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Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
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MTDPS3
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Dguok Deficiency
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Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
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Dguok-Related Mitochondrial Dna Depletion Syndrome
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Hepatocerebral Mitochondrial Dna Depletion Syndrome
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Mtdna Depletion Syndrome, Hepatocerebral Form
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Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency
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Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
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Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type
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Mitochondrial Dna Depletion Syndrome , Type 3
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| Multiple Pterygium Syndrome, Escobar Variant |
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Multiple Pterygium Syndrome
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Pterygium
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Escobar Syndrome
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EVMPS
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Pterygium Syndrome
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Autosomal Recessive Multiple Pterygium Syndrome
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Pterygium Colli Syndrome
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Pterygium Universale
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Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
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Escobar Variant Multiple Pterygium Syndrome
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Multiple Pterygium Syndrome, Nonlethal Type
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Surfer'S Eye
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Multiple Pterygium Syndrome Escobar Type
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Multiple Pterygium Syndrome Nonlethal Type
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Familial Pterygium Syndrome
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Pterygium Colli
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Multiple Pterygium Syndrome, Non-Lethal Type
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Nonlethal Type Multiple Pterygium Syndrome
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Pterygium Syndrome, Multiple, Escobar Type
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Pterygium Of Eye
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Web Eye
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| Neuromuscular Disease |
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Neuromuscular Diseases
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Neuromuscular Disorders
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Neuromuscular Disorder
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| Charcot-Marie-Tooth Disease |
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Cmt
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Hmsn
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Hereditary Motor And Sensory Neuropathy
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Pma
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Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
|
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
|
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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