疾病名称 |
别名 |
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Spastic Paraplegia 31, Autosomal Dominant |
SPG31
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Hereditary Spastic Paraplegia 31
|
Spastic Paraplegia 31
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Autosomal Dominant Spastic Paraplegia 31
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Autosomal Dominant Spastic Paraplegia Type 31
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Spastic Paraplegia Type 31
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Paraplegia, Spastic, Autosomal Dominant, Type 31
|
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Neuronopathy, Distal Hereditary Motor, Type Vb |
HMN5B
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Hmn Vb
|
Dhmn5b
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Dhmn Vb
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Dsmavb
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Neuronopathy, Distal Hereditary Motor, Type 5b
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Neuropathy, Distal Hereditary Motor, Type Vb
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Spinal Muscular Atrophy, Distal, Type Vb
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Distal Hereditary Motor Neuronopathy Type 5b
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Distal Hmn Vb
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Distal Spinal Muscular Atrophy Type Vb
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Neuronopathy, Distal Hereditary Motor, 5b
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Distal Hereditary Motor Neuropathy Type Vb
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Spinal Muscular Atrophy Distal Type Vb
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Neuropathy, Motor, Distal, Hereditary, Type Vb
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Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
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Hereditary Spastic Paraplegia |
Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
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Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
Hsp
|
Spg
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
Fsp
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Spastic Paraplegia, Familial
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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Neuronopathy, Distal Hereditary Motor, Type Va |
Dsmav
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Distal Hereditary Motor Neuropathy Type V
|
Young Adult-Onset Distal Hereditary Motor Neuropathy
|
Neuronopathy, Distal Hereditary Motor, Type V
|
Distal Hereditary Motor Neuronopathy Type 5
|
Dhmn5
|
Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
Hmn5
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Dhmn5a
|
Dhmn Va
|
Dsmava
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Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
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Young Adult-Onset Dhmn
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Dhmn-V
|
Hmn V
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Neuronopathy, Distal Hereditary Motor, Type 5a
|
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
|
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
|
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
|
Neuropathy, Motor, Distal, Hereditary, Type Va
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Paraplegia |
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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Hereditary Spastic Paraplegia 30 |
Autosomal Spastic Paraplegia Type 30
|
Spg30
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Autosomal Recessive Spastic Paraplegia 30
|
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Spastic Paraplegia 26, Autosomal Recessive |
SPG26
|
Hereditary Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia Type 26
|
Gm2 Synthase Deficiency
|
Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia 26
|
Paraplegia, Spastic, Autosomal Recessive, Type 26
|
|
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Spastic Paraplegia 18, Autosomal Recessive |
SPG18
|
Idmdc
|
Hereditary Spastic Paraplegia 18
|
Intellectual Disability, Motor Dysfunction, And Joint Contractures
|
Autosomal Recessive Spastic Paraplegia Type 18
|
Autosomal Recessive Spastic Paraplegia 18
|
Intellectual Disability, Motor Dysfunction And Joint Contractures
|
Spastic Paraplegia 18
|
Intellectual Disability Motor Dysfunction And Joint Contractures
|
Paraplegia, Spastic, Type 18
|
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Spastic Paraplegia 61, Autosomal Recessive |
SPG61
|
Hereditary Spastic Paraplegia 61
|
Autosomal Recessive Spastic Paraplegia Type 61
|
Autosomal Recessive Spastic Paraplegia 61
|
Paraplegia, Spastic, Type 61, Autosomal Recessive
|
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Spastic Paraplegia 42, Autosomal Dominant |
SPG42
|
Hereditary Spastic Paraplegia 42
|
Autosomal Dominant Spastic Paraplegia Type 42
|
Autosomal Dominant Spastic Paraplegia 42
|
Paraplegia, Spastic, Type 42, Autosomal Dominant
|
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Spastic Paraplegia 78, Autosomal Recessive |
SPG78
|
Autosomal Recessive Spastic Paraplegia Type 78
|
Hereditary Spastic Paraplegia 78
|
Spastic Paraplegia 78 Autosomal Recessive
|
Doid:0112348
|
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Masa Syndrome |
L1 Syndrome
|
Crash Syndrome
|
X-Linked Hydrocephalus Syndrome
|
SPG1
|
Gareis-Mason Syndrome
|
Spastic Paraplegia 1, X-Linked
|
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
|
L1cam Syndrome
|
Spastic Paraplegia 1
|
Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
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Clasped Thumb And Mental Retardation
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Thumb, Congenital Clasped, With Mental Retardation
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Adducted Thumb With Mental Retardation
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Hereditary Spastic Paraplegia 1
|
X-Linked Complicated Hereditary Spastic Paraplegia Type 1
|
X-Linked Corpus Callosum Agenesis
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X-Linked Spastic Paraplegia 1
|
L1 Disease
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X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis
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Adducted Thumb With Intellectual Disability
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Clasped Thumb And Intellectual Disability
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Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
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Thumb Congenital Clasped With Intellectual Disability
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X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
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Adducted Thumbs-Mental Retardation Syndrome
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Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
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Mental Retardation-Clasped Thumb Syndrome
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Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
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Spastic Paraplegia Type 1, X-Linked
|
MASA
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Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus
|
Crash
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Masa Syndrome
|
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Motor Peripheral Neuropathy |
Motor Neuritis
|
Peripheral Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
Hsmn - Hereditary Sensory And Motor Neuropathy
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Neuropathic Muscular Atrophy
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
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Spastic Paraplegia 57, Autosomal Recessive |
SPG57
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Hereditary Spastic Paraplegia 57
|
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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Spastic Paraplegia 75, Autosomal Recessive |
SPG75
|
Hereditary Spastic Paraplegia 75
|
Autosomal Recessive Spastic Paraplegia Type 75
|
Autosomal Recessive Spastic Paraplegia 75
|
|
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Spastic Paraplegia 13, Autosomal Dominant |
SPG13
|
Hereditary Spastic Paraplegia 13
|
Autosomal Dominant Spastic Paraplegia 13
|
Spastic Paraplegia 13
|
Autosomal Dominant Spastic Paraplegia Type 13
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Spastic Paraplegia-13
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Paraplegia, Spastic, Type 13
|
|
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Spastic Paraplegia 10, Autosomal Dominant |
SPG10
|
Hereditary Spastic Paraplegia 10
|
Autosomal Dominant Spastic Paraplegia Type 10
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Spastic Paraplegia 10
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Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
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Spastic Paraplegia 2, X-Linked |
SPG2
|
Hereditary Spastic Paraplegia 2
|
Sppx2
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Spastic Paraplegia Type 2
|
Spastic Paraplegia 2
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Hereditary X-Linked Recessive Spastic Paraplegia
|
X-Linked Spastic Paraplegia 2
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X Linked Recessive Hereditary Spastic Paraplegia
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Spastic Gait Type 2
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Spastic Paraparesis Type 2
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X-Linked Spastic Paraplegia Type 2
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Spastic Paraplegia Type 2, X-Linked
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Spastic Paraplegia-2
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Paraplegia, Spastic, Type 2
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Neuropathy, Hereditary Sensory, Type Iic |
HSN2C
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Hereditary Sensory Neuropathy Type 2c
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Hereditary Sensory Neuropathy Type Iic
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Neuropathy, Hereditary Sensory, Type 2c
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Neuropathy, Hereditary Sensory, 2c
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Hsn Iice
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Neuropathy, Sensory, Hereditary, Type Iic
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Spastic Paraplegia 17, Autosomal Dominant |
Silver Syndrome
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SPG17
|
Silver Spastic Paraplegia Syndrome
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Spastic Paraplegia With Amyotrophy Of Hands And Feet
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Hereditary Spastic Paraplegia 17
|
Autosomal Dominant Spastic Paraplegia Type 17
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Spastic Paraplegia 17
|
Spastic Paraplegia-Amyotrophy Of Hands And Feet
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Autosomal Dominant Spastic Paraplegia 17
|
Dhmn5b
|
Distal Hereditary Motor Neuropathy Type 5b
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Paraplegia, Spastic, Autosomal Dominant, Type 17
|
Russell-Silver Syndrome
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Neuronopathy, Distal Hereditary Motor, Type Vb
|
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Spastic Paraplegia 73, Autosomal Dominant |
SPG73
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Hereditary Spastic Paraplegia 73
|
Autosomal Dominant Spastic Paraplegia Type 73
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Autosomal Dominant Spastic Paraplegia 73
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Paraplegia, Spastic, Autosomal Dominant, Type 73
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Spastic Paraplegia 62, Autosomal Recessive |
SPG62
|
Hereditary Spastic Paraplegia 62
|
Autosomal Recessive Spastic Paraplegia Type 62
|
Spastic Paraplegia 62
|
Autosomal Recessive Spastic Paraplegia 62
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Paraplegia, Spastic, Type 62
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Spastic Ataxia 2 |
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Spastic Paraplegia 3, Autosomal Dominant |
SPG3A
|
Strumpell Disease
|
Hereditary Spastic Paraplegia 3a
|
SPG3
|
Fsp1
|
Autosomal Dominant Spastic Paraplegia Type 3
|
Familial Spastic Paraplegia, Autosomal Dominant, 1
|
Spastic Paraplegia 3a, Autosomal Dominant
|
Autosomal Dominant Familial Spastic Paraplegia 1
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Autosomal Dominant Spastic Paraplegia 3
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Spastic Paraplegia 3
|
Familial Spastic Paraplegia Autosomal Dominant 1
|
Strumpell-Lorrain Syndrome
|
Paraplegia, Spastic, Autosomal Dominant, Type 3a
|
Spastic Paraplegia, Hereditary
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Spastic Paraplegia 54, Autosomal Recessive |
SPG54
|
Hereditary Spastic Paraplegia 54
|
Autosomal Recessive Spastic Paraplegia Type 54
|
Autosomal Recessive Spastic Paraplegia 54
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Paraplegia, Spastic, Type 54, Autosomal Recessive
|
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Spastic Paraplegia 9a, Autosomal Dominant |
Hereditary Spastic Paraplegia 9a
|
SPG9A
|
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
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Ad-Spg9a
|
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome
|
Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
|
Autosomal Dominant Complex Spastic Paraplegia Type 9a
|
Autosomal Dominant Spastic Paraplegia 9a
|
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
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Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
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Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux
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Autosomal Dominant Spastic Paraplegia Type 9a
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Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
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Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
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Spastic Paraplegia 9, Autosomal Dominant
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Spastic Paraplegia 15, Autosomal Recessive |
SPG15
|
Kjellin Syndrome
|
Hereditary Spastic Paraplegia 15
|
Spastic Paraplegia And Retinal Degeneration
|
Autosomal Recessive Spastic Paraplegia Type 15
|
Hereditary Spastic Paraparesis Type 15
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Spastic Paraplegia-Retinal Degeneration Syndrome
|
Autosomal Recessive Spastic Paraplegia 15
|
|
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Hereditary Spastic Paraplegia 35 |
Autosomal Recessive Spastic Paraplegia Type 35
|
Spg35
|
Autosomal Recessive Spastic Paraplegia 35
|
Fahn
|
Fatty Acid Hydroxylase-Associated Neurodegeneration
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Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
|
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Spastic Paraplegia 4, Autosomal Dominant |
SPG4
|
Hereditary Spastic Paraplegia 4
|
Fsp2
|
Autosomal Dominant Spastic Paraplegia Type 4
|
Familial Spastic Paraplegia, Autosomal Dominant, 2
|
Autosomal Dominant Spastic Paraplegia 4
|
Familial Spastic Paraplegia Autosomal Dominant 2
|
Paraplegia, Spastic, Autosomal Dominant, Type 4
|
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Autosomal Dominant Distal Hereditary Motor Neuronopathy |
Autosomal Dominant Distal Hereditary Motor Neuropathy
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Autosomal Dominant Dhmn
|
Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
|
Spastic Paraplegia 12, Autosomal Dominant |
SPG12
|
Hereditary Spastic Paraplegia 12
|
Autosomal Dominant Spastic Paraplegia Type 12
|
Autosomal Dominant Spastic Paraplegia 12
|
Spastic Paraplegia 12
|
Spastic Paraplegia-12
|
Paraplegia, Spastic, Autosomal Dominant, Type 12
|
|
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Autosomal Recessive Distal Hereditary Motor Neuronopathy |
Autosomal Recessive Distal Spinal Muscular Atrophy
|
|
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Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
Smard1
|
DSMA1
|
Sianrf
|
Dhmn6
|
Spinal Muscular Atrophy With Respiratory Distress 1
|
HMN6
|
Severe Infantile Axonal Neuropathy With Respiratory Failure
|
Autosomal Recessive Distal Spinal Muscular Atrophy 1
|
Diaphragmatic Spinal Muscular Atrophy
|
Spinal Muscular Atrophy With Respiratory Distress Type 1
|
Neuronopathy, Distal Hereditary Motor, Type Vi
|
Hmn Vi
|
Neuronopathy, Severe Infantile Axonal, With Respiratory Failure
|
Distal Spinal Muscular Atrophy 1
|
Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress
|
Distal Hereditary Motor Neuropathy Type 6
|
Distal-Hmn Type 6
|
Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1
|
Spinal Muscular Atrophy, Diaphragmatic
|
Distal Hereditary Motor Neuronopathy Type Vi
|
Distal Spinal Muscular Atrophy Type 1
|
Hmnvi
|
Spinal Muscular Atrophy With Respiratory Distress
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 1
|
Neuronopathy, Distal Hereditary Motor, 6
|
Dhmn Vi
|
Distal Hereditary Motor Neuropathy Type Vi
|
Severe Infantile Axonal Neuronopathy With Respiratory Failure
|
Spinal Muscular Atrophy Distal Autosomal Recessive 1
|
Atrophy, Muscular, Spinal, Distal, Type 1
|
|
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Spastic Paraplegia 19, Autosomal Dominant |
SPG19
|
Hereditary Spastic Paraplegia 19
|
Autosomal Dominant Spastic Paraplegia Type 19
|
Autosomal Dominant Spastic Paraplegia 19
|
Spastic Paraplegia 19
|
Spastic Paraplegia-19
|
|
|
Nescav Syndrome |
NESCAVS
|
Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
|
Mrd9
|
Intellectual Disability, Autosomal Dominant 9
|
Mental Retardation, Autosomal Dominant 9, Formerly
|
Mrd9, Formerly
|
Autosomal Dominant Intellectual Disability 9
|
Autosomal Dominant Non-Syndromic Intellectual Disability 9
|
Mental Retardation, Autosomal Dominant 9
|
|
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Spastic Paraplegia 20, Autosomal Recessive |
Troyer Syndrome
|
SPG20
|
Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting
|
Spastic Paraplegia, Autosomal Recessive, Troyer Type
|
Autosomal Recessive Spastic Paraplegia Type 20
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
Spastic Paraplegia 20
|
Cross-Mckusick Syndrome
|
Autosomal Recessive Spastic Paraplegia 20
|
Autosomal Recessive Spastic Paraplegia Troyer Type
|
Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting
|
Hereditary Spastic Paraplegia 20
|
Spastic Paraplegia Type 20
|
Hereditary Spastic Paraplegia
|
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome
|
Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
|
Spastic Paraplegia Autosomal Recessive Troyer Type
|
Trs
|
Spastic Paraplegia Hereditary Autosomal Recessive
|
Spastic Paraplegia, Hereditary
|
|
|
Distal Hereditary Motor Neuronopathy Type 7 |
Dhmn7
|
Dhmnvpy
|
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
|
|
|
Muscular Atrophy |
Muscle Wasting
|
Amyotrophia
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
Arthrogryposis, Distal, Type 10 |
DA10
|
Distal Arthrogryposis Type 10
|
Short Achilles Tendon
|
Plantar Flexion Contracture
|
Short Tendo Calcaneus
|
Congenital Plantar Contractures
|
Tendo Calcaneus, Short
|
|
|
Amyotrophic Lateral Sclerosis 1 |
Amyotrophic Lateral Sclerosis
|
ALS
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
Charcot Disease
|
ALS1
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
Lou Gehrig'S Disease
|
Mnd
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
Progressive Atrophic Paralysis
|
|
|
Distal Hereditary Motor Neuronopathy Type 2 |
Distal Hereditary Motor Neuropathy, Type Ii
|
Distal Hereditary Motor Neuropathy Type 2
|
Distal Hereditary Motor Neuropathy Type Ii
|
Hmn Ii
|
Hmn2
|
Distal Hereditary Motor Neuronopathy, Type Ii
|
Distal Spinal Muscular Atrophy Type 2
|
Dhmn2
|
Dsma2
|
Neuropathy, Motor, Distal, Hereditary, Type Ii
|
Spinal Muscular Atrophy, Jerash Type
|
|
|
Spastic Ataxia |
|
|
Charcot-Marie-Tooth Disease |
Cmt
|
Hmsn
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
Neuromuscular Disease |
Neuromuscular Diseases
|
Neuromuscular Disorders
|
Neuromuscular Disorder
|
|
|