| 疾病名称 |
别名 |
|
| Ataxia, Sensory, 1, Autosomal Dominant |
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Autosomal Dominant Sensory Ataxia 1
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SNAX1
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Adsa
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Ataxia, Sensory, Type 1, Autosomal Dominant
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Ataxia, Sensory, Autosomal Dominant
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| Spastic Paraplegia 85, Autosomal Recessive |
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SPG85
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Hereditary Spastic Paraplegia 85
|
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Spastic Paraplegia 85 Autosomal Recessive
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Doid:0112345
|
|
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| Spastic Paraplegia 83, Autosomal Recessive |
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SPG83
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Hereditary Spastic Paraplegia 83
|
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Spastic Paraplegia 83 Autosomal Recessive
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Doid:0112346
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Paraplegia, Spastic, Type 83, Autosomal Recessive
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| Spastic Paraplegia 80, Autosomal Dominant |
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SPG80
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Hereditary Spastic Paraplegia 80
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Spastic Paraplegia 80 Autosomal Dominant
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Doid:0112341
|
|
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| Spastic Paraplegia 82, Autosomal Recessive |
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SPG82
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Hereditary Spastic Paraplegia 82
|
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Spastic Paraplegia 82 Autosomal Recessive
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Doid:0112343
|
|
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| Spastic Paraplegia 62, Autosomal Recessive |
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SPG62
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Hereditary Spastic Paraplegia 62
|
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Autosomal Recessive Spastic Paraplegia Type 62
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Spastic Paraplegia 62
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Autosomal Recessive Spastic Paraplegia 62
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Paraplegia, Spastic, Type 62
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|
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| Spastic Paraplegia 81, Autosomal Recessive |
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SPG81
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Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
|
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Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction
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Hereditary Spastic Paraplegia 81
|
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Spastic Paraplegia 81 Autosomal Recessive
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Doid:0112349
|
|
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| Paraplegia |
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Paraplegia, Lower
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Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
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| Neuronopathy, Distal Hereditary Motor, Type Va |
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Dsmav
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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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| Non-Syndromic X-Linked Intellectual Disability 103 |
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Mrx103
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X-Linked Mental Retardation 103
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|
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| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
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DSMA4
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Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset
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Distal Spinal Muscular Atrophy Type 4
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 4
|
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Distal Spinal Muscular Atrophy, Autosomal Recessive, 4
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Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4
|
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| Syndromic X-Linked Intellectual Disability Turner Type |
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Mental Retardation, X-Linked Syndromic, Turner Type
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Intellectual Disability, X-Linked Syndromic, Turner Type
|
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Brooks-Wisniewski-Brown Syndrome
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Mental Retardation And Macrocephaly Syndrome
|
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Mrxst
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X-Linked Intellectual Disability, Brooks Type
|
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Mental Retardation, X-Linked, Syndromic, Turner Type
|
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| Spastic Paraplegia 79, Autosomal Recessive |
|
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome
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SPG79
|
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Neurodegeneration With Optic Atrophy, Childhood-Onset
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Ndgoa
|
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Hereditary Spastic Paraplegia 79
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Spastic Paraplegia 79 Autosomal Recessive
|
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Doid:0112344
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Neurodegeneration, With Optic Atrophy, Childhood-Onset
|
|
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| Neuronopathy, Distal Hereditary Motor, Type Iid |
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HMN2D
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Hmn Iid
|
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Dhmn2d
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Distal Hereditary Motor Neuronopathy Type 2d
|
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Distal Hereditary Motor Neuropathy Type Iid
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Neuronopathy, Distal Hereditary Motor, Type 2d
|
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Neuropathy, Distal Hereditary Motor, Type Iid
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Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant
|
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Distal Spinal Muscular Atrophy With Calf Predominance
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Neuronopathy, Distal Hereditary Motor, 2d
|
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Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant
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Dhmn Iid
|
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Neuropathy, Motor, Distal, Hereditary, Type 2d
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|
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| Non-Syndromic X-Linked Intellectual Disability 101 |
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Mrx101
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X-Linked Mental Retardation 101
|
|
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| Pseudobulbar Palsy |
|
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| Gillespie Syndrome |
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GLSP
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Aniridia, Cerebellar Ataxia And Mental Deficiency
|
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Aniridia Cerebellar Ataxia Mental Deficiency
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Aniridia, Cerebellar Ataxia, And Mental Retardation
|
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Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
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Aniridia-Cerebellar Ataxia-Intellectual Disability
|
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Aniridia-Cerebellar Ataxia-Mental Deficiency
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Partial Aniridia-Cerebellar Ataxia-Oligophrenia
|
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Aniridia, Cerebellar Ataxia, And Intellectual Disability
|
|
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| Spastic Paraplegia 18, Autosomal Recessive |
|
SPG18
|
Idmdc
|
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Hereditary Spastic Paraplegia 18
|
Intellectual Disability, Motor Dysfunction, And Joint Contractures
|
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Autosomal Recessive Spastic Paraplegia Type 18
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Autosomal Recessive Spastic Paraplegia 18
|
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Intellectual Disability, Motor Dysfunction And Joint Contractures
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Spastic Paraplegia 18
|
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Intellectual Disability Motor Dysfunction And Joint Contractures
|
Paraplegia, Spastic, Type 18
|
|
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| Spastic Paraplegia 57, Autosomal Recessive |
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SPG57
|
Hereditary Spastic Paraplegia 57
|
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Autosomal Recessive Spastic Paraplegia Type 57
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Autosomal Recessive Spastic Paraplegia 57
|
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Spastic Paraplegia Due To Partial Tfg Deficiency
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Paraplegia, Spastic, Type 57, Autosomal Recessive
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2r |
|
Charcot-Marie-Tooth Disease Type 2r
|
CMT2R
|
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Charcot-Marie-Tooth Neuropathy, Type 2r
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r
|
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Charcot-Marie-Tooth Disease, Type 2r
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r
|
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Charcot-Marie-Tooth Neuropathy Type 2r
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Charcot-Marie-Tooth Disease 2r
|
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Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r
|
Charcot-Marie-Tooth Disease Axonal Type 2r
|
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Charcot-Marie-Tooth Neuropathy Axonal Type 2r
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2p |
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CMT2P
|
Charcot-Marie-Tooth Disease Axonal Type 2p
|
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Charcot-Marie-Tooth Disease Type 2p
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Charcot-Marie-Tooth Neuropathy, Type 2p
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly
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Cmt2g, Formerly
|
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Charcot-Marie-Tooth Neuropathy Type 2p
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Charcot-Marie-Toothe Disease, Axonal, Type 2p
|
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Charcot-Marie-Tooth Disease 2p
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Charcot-Marie-Tooth Disease, Axonal Type 2g
|
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Charcot-Marie-Tooth Neuropathy Axonal Type 2p
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Cmt2g
|
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Charcot-Marie-Tooth Disease, Type 2p
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Charcot-Marie-Tooth Disease, Axonal, Type 2g
|
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| Polyneuropathy |
|
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| Syndromic X-Linked Intellectual Disability Cabezas Type |
|
Cabezas Syndrome
|
Syndromic X-Linked Mental Retardation 15
|
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Mental Retardation, X-Linked, Syndromic 15
|
Mrss
|
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Mrxs15
|
Mrxsc
|
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X-Linked Mental Retardation With Short Stature
|
X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait
|
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Mental Retardation, X-Linked, With Short Stature
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Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
|
|
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| Kaufman Oculocerebrofacial Syndrome |
|
KOS
|
Blepharophimosis-Ptosis-Intellectual Disability Syndrome
|
|
Oculocerebrofacial Syndrome, Kaufman Type
|
Bpids
|
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Blepharophimosis Ptosis Intellectual Disability Syndrome
|
Blepharophimosis-Ptosis-Intellectual Disability Syndrome
|
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Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet
|
Bpid Syndrome
|
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| Distal Hereditary Motor Neuronopathy Type 2 |
|
Distal Hereditary Motor Neuropathy, Type Ii
|
Distal Hereditary Motor Neuropathy Type 2
|
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Distal Hereditary Motor Neuropathy Type Ii
|
Hmn Ii
|
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Hmn2
|
Distal Hereditary Motor Neuronopathy, Type Ii
|
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Distal Spinal Muscular Atrophy Type 2
|
Dhmn2
|
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Dsma2
|
Neuropathy, Motor, Distal, Hereditary, Type Ii
|
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Spinal Muscular Atrophy, Jerash Type
|
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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
|
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Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
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| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
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X-Linked Non-Specific Intellectual Disability
|
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| Spastic Ataxia |
|
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