疾病名称 |
别名 |
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Spastic Paraplegia 11, Autosomal Recessive |
SPG11
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Hereditary Spastic Paraplegia 11
|
Hsp-Tcc
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Autosomal Recessive Spastic Paraplegia Type 11
|
Nakamura-Osame Syndrome
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Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome
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Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum
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Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum
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Autosomal Recessive Spastic Paraplegia 11
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Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum
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Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum
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Arhsp-Tcc
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Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum
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Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum
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Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum
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Paraplegia, Spastic, Autosomal Recessive, Type 11
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Nakamura Osame Syndrome
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Charcot-Marie-Tooth Disease, Axonal, Type 2x |
CMT2X
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Charcot-Marie-Tooth Disease Axonal Type 2x
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Charcot-Marie-Tooth Neuropathy, Type 2x
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2x
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Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2x
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Charcot-Marie-Tooth Neuropathy Type 2x
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 2x
|
Arcmt2x
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 Due To Spg11 Mutation
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Charcot-Marie-Tooth Disease 2x
|
Autosomal Recessive Charcot Marie Tooth Disease Type 2x
|
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Amyotrophic Lateral Sclerosis 5, Juvenile |
ALS5
|
Amyotrophic Lateral Sclerosis 5
|
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Amyotrophic Lateral Sclerosis Type 5 |
Amyotrophic Lateral Sclerosis 5
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Als5
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Spastic Paraplegia 11 |
Spastic Paraplegia Type 11
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Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum
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Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum
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Hsp-Tcc
|
Spg11-Related Hereditary Spastic Paraplegia With Thin Corpus Callosum
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Nakamura Osame Syndrome
|
Spastic Paraplegia 11, Autosomal Recessive
|
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Homocarnosinosis |
Homocarnosinase Deficiency
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Hereditary Spastic Paraplegia Mental Impairment And Thin Corpus Callosum
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Spastic Paraplegia 11
|
Autosomal Recessive Spastic Paraplegia Type 11
|
Hereditary Spastic Paraplegia 11
|
Nakamura Osame Syndrome
|
Spg11
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Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum
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Serum Carnosinase Deficiency
|
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Hereditary Spastic Paraplegia |
Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
Hsp
|
Spg
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Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
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French Settlement Disease
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Strumpell-Lorrain Syndrome
|
Fsp
|
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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Juvenile Amyotrophic Lateral Sclerosis |
Jals
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Juvenile Charcot Disease
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Juvenile Lou Gehrig Disease
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Amyotrophic Lateral Sclerosis, Juvenile
|
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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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Spastic Paraparesis |
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Lateral Sclerosis |
Primary Lateral Sclerosis
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Adult-Onset Primary Lateral Sclerosis
|
Adult-Onset Pls
|
Motor Neuron Disease
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Pls
|
Pls - [Primary Lateral Sclerosis]
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Lateral Spinal Sclerosis
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Lateral Complete Paralysis
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Lateral Incomplete Paralysis
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Lateral Paralysis
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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 78, Autosomal Recessive |
SPG78
|
Autosomal Recessive Spastic Paraplegia Type 78
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Hereditary Spastic Paraplegia 78
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Spastic Paraplegia 78 Autosomal Recessive
|
Doid:0112348
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Spastic Paraplegia 26, Autosomal Recessive |
SPG26
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Hereditary Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia Type 26
|
Gm2 Synthase Deficiency
|
Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia 26
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Paraplegia, Spastic, Autosomal Recessive, Type 26
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Spastic Paraplegia 54, Autosomal Recessive |
SPG54
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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 79, Autosomal Recessive |
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome
|
SPG79
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Neurodegeneration With Optic Atrophy, Childhood-Onset
|
Ndgoa
|
Hereditary Spastic Paraplegia 79
|
Spastic Paraplegia 79 Autosomal Recessive
|
Doid:0112344
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Neurodegeneration, With Optic Atrophy, Childhood-Onset
|
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Spastic Paraplegia 77, Autosomal Recessive |
SPG77
|
Hereditary Spastic Paraplegia 77
|
Autosomal Recessive Spastic Paraplegia 77
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Autosomal Recessive Spastic Paraplegia Type 77
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Spastic Paraplegia 18, Autosomal Recessive |
SPG18
|
Idmdc
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Hereditary Spastic Paraplegia 18
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Intellectual Disability, Motor Dysfunction, And Joint Contractures
|
Autosomal Recessive Spastic Paraplegia Type 18
|
Autosomal Recessive Spastic Paraplegia 18
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Intellectual Disability, Motor Dysfunction And Joint Contractures
|
Spastic Paraplegia 18
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Intellectual Disability Motor Dysfunction And Joint Contractures
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Paraplegia, Spastic, Type 18
|
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Spastic Paraplegia 48, Autosomal Recessive |
SPG48
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Hereditary Spastic Paraplegia 48
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Autosomal Recessive Spastic Paraplegia Type 48
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Autosomal Recessive Spastic Paraplegia 48
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Paraplegia, Spastic, Type 48, Autosomal Recessive
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Hereditary Spastic Paraplegia 49 |
Autosomal Recessive Spastic Paraplegia Type 49
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Autosomal Recessive Spastic Paraplegia 49
|
Spg49
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Paraplegia, Spastic, Type 49, Autosomal Recessive
|
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Spastic Paraplegia 3, Autosomal Dominant |
SPG3A
|
Strumpell Disease
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Hereditary Spastic Paraplegia 3a
|
SPG3
|
Fsp1
|
Autosomal Dominant Spastic Paraplegia Type 3
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Familial Spastic Paraplegia, Autosomal Dominant, 1
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Spastic Paraplegia 3a, Autosomal Dominant
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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
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Strumpell-Lorrain Syndrome
|
Paraplegia, Spastic, Autosomal Dominant, Type 3a
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Spastic Paraplegia, Hereditary
|
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Spastic Paraplegia 63, Autosomal Recessive |
SPG63
|
Hereditary Spastic Paraplegia 63
|
Spastic Paraplegia 63
|
Autosomal Recessive Spastic Paraplegia 63
|
Autosomal Recessive Spastic Paraplegia Type 63
|
Paraplegia, Spastic, Type 63, Autosomal Recessive
|
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Spastic Paraplegia 43, Autosomal Recessive |
SPG43
|
Hereditary Spastic Paraplegia 43
|
Autosomal Recessive Spastic Paraplegia Type 43
|
Autosomal Recessive Spastic Paraplegia 43
|
Paraplegia, Spastic, Type 43, Autosomal Recessive
|
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Spastic Paraplegia 64, Autosomal Recessive |
SPG64
|
Hereditary Spastic Paraplegia 64
|
Autosomal Recessive Spastic Paraplegia Type 64
|
Autosomal Recessive Spastic Paraplegia 64
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Paraplegia, Spastic, Type 64, Autosomal Recessive
|
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Spastic Paraplegia 44, Autosomal Recessive |
SPG44
|
Hereditary Spastic Paraplegia 44
|
Autosomal Recessive Spastic Paraplegia 44
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Autosomal Recessive Spastic Paraplegia Type 44
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Paraplegia, Spastic, Type 44, Autosomal Recessive
|
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Spastic Paraplegia 55, Autosomal Recessive |
SPG55
|
Hereditary Spastic Paraplegia 55
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Autosomal Recessive Spastic Paraplegia Type 55
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Autosomal Recessive Spastic Paraplegia 55
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Paraplegia, Spastic, Autosomal Recessive, Type 55
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Masa Syndrome |
L1 Syndrome
|
Crash Syndrome
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X-Linked Hydrocephalus Syndrome
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SPG1
|
Gareis-Mason Syndrome
|
Spastic Paraplegia 1, X-Linked
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Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
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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
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X-Linked Corpus Callosum Agenesis
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X-Linked Spastic Paraplegia 1
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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
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MASA
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Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus
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Crash
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Masa Syndrome
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Neuropathy, Hereditary Sensory, Type Iic |
HSN2C
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Hereditary Sensory Neuropathy Type 2c
|
Hereditary Sensory Neuropathy Type Iic
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Neuropathy, Hereditary Sensory, Type 2c
|
Neuropathy, Hereditary Sensory, 2c
|
Hsn Iice
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Neuropathy, Sensory, Hereditary, Type Iic
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Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
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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Charcot-Marie-Tooth Disease |
Cmt
|
Hmsn
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
|
Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
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Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
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Spastic Paraplegia 57, Autosomal Recessive |
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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Motor Peripheral Neuropathy |
Motor Neuritis
|
Peripheral Motor Neuropathy
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Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
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Hereditary Spastic Paraplegia 30 |
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
Autosomal Recessive Spastic Paraplegia 30
|
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Spastic Paraplegia 2, X-Linked |
SPG2
|
Hereditary Spastic Paraplegia 2
|
Sppx2
|
Spastic Paraplegia Type 2
|
Spastic Paraplegia 2
|
Hereditary X-Linked Recessive Spastic Paraplegia
|
X-Linked Spastic Paraplegia 2
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X Linked Recessive Hereditary Spastic Paraplegia
|
Spastic Gait Type 2
|
Spastic Paraparesis Type 2
|
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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Spastic Paraplegia 14, Autosomal Recessive |
SPG14
|
Hereditary Spastic Paraplegia 14
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
Spastic Paraplegia 14
|
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Spastic Paraplegia 45, Autosomal Recessive |
SPG45
|
Hereditary Spastic Paraplegia 45
|
Autosomal Recessive Spastic Paraplegia Type 45
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Autosomal Recessive Spastic Paraplegia Type 65
|
Spg65
|
Autosomal Recessive Spastic Paraplegia 45
|
Paraplegia, Spastic, Type 45, Autosomal Recessive
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Spastic Paraplegia 9b, Autosomal Recessive |
SPG9B
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Autosomal Recessive Complex Spastic Paraplegia Type 9b
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Hereditary Spastic Paraplegia 9b
|
Autosomal Recessive Spastic Paraplegia 9b
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Autosomal Recessive Spastic Paraplegia Type 9b
|
Ar-Spg9b
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Spastic Paraplegia 31, Autosomal Dominant |
SPG31
|
Hereditary Spastic Paraplegia 31
|
Spastic Paraplegia 31
|
Autosomal Dominant Spastic Paraplegia 31
|
Autosomal Dominant Spastic Paraplegia Type 31
|
Spastic Paraplegia Type 31
|
Paraplegia, Spastic, Autosomal Dominant, Type 31
|
|
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Spastic Paraplegia 52, Autosomal Recessive |
SPG52
|
Hereditary Spastic Paraplegia 52
|
Cpsq6
|
Cerebral Palsy, Spastic Quadriplegic, 6, Formerly
|
Cpsq6, Formerly
|
Autosomal Recessive Spastic Paraplegia 52
|
Spastic Quadriplegic Cerebral Palsy 6
|
Cerebral Palsy, Spastic Quadriplegic 6
|
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Mast Syndrome |
SPG21
|
Spastic Paraplegia 21, Autosomal Recessive
|
Autosomal Recessive Spastic Paraplegia Type 21
|
Autosomal Recessive Spastic Paraplegia 21
|
Hereditary Spastic Paraplegia 21
|
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Tooth Disease |
Tooth Diseases
|
Teeth Disease
|
Tooth Disorders
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2e |
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
CMT2S
|
CMT2Y
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
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Spastic Paraplegia 10, Autosomal Dominant |
SPG10
|
Hereditary Spastic Paraplegia 10
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
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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Parkinson Disease 15, Autosomal Recessive Early-Onset |
Parkinsonian-Pyramidal Syndrome
|
Pallidopyramidal Syndrome
|
Parkinson Disease 15, Autosomal Recessive
|
PARK15
|
Pkps
|
Pallido-Pyramidal Syndrome
|
Parkinson'S Disease 15
|
Autosomal Recessive Early-Onset Parkinson Disease 15
|
Autosomal Recessive Early-Onset Parkinson'S Disease 15
|
Pallido-Pyramidal Disease
|
Parkinson Disease 15
|
Parkinson Disease 15 Autosomal Recessive
|
Pps
|
Parkinson Disease, Type 15
|
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Amyotrophic Lateral Sclerosis 16, Juvenile |
Amyotrophic Lateral Sclerosis Type 16
|
ALS16
|
Amyotrophic Lateral Sclerosis 16
|
Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile
|
|
|
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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Spinocerebellar Ataxia 2 |
Spinocerebellar Ataxia Type 2
|
SCA2
|
Amyotrophic Lateral Sclerosis 13
|
Spinocerebellar Degeneration With Slow Eye Movements
|
SDSEM
|
Spinocerebellar Atrophy Ii
|
Olivopontocerebellar Atrophy Ii
|
Opca2
|
Cerebellar Degeneration With Slow Eye Movements
|
Wadia-Swami Syndrome
|
Amyotrophic Lateral Sclerosis Type 13
|
ALS13
|
Olivopontocerebellar Atrophy Holguin Type
|
Spinocerebellar Ataxia Cuban Type
|
Olivopontocerebellar Atrophy, Holguin Type
|
Spinocerebellar Ataxia, Cuban Type
|
Amyotrophic Lateral Sclerosis, Susceptibility To, 13
|
Olivopontocerebellar Atrophy 2
|
Sca 2
|
Spinocerebellar Ataxia With Slow Eye Movements
|
Spinocerebellar Atrophy 2
|
Wadia Swami Syndrome
|
Opca Ii
|
Spinocerebellar Ataxia-2
|
Ataxia, Spinocerebellar, Type 2
|
|
|
Neuronopathy, Distal Hereditary Motor, Type Va |
Dsmav
|
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
|
Dhmn5a
|
Dhmn Va
|
Dsmava
|
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
Young Adult-Onset Dhmn
|
Dhmn-V
|
Hmn V
|
Neuronopathy, Distal Hereditary Motor, Type 5a
|
Hmn 5a
|
Neuropathy, Distal Hereditary Motor, Type Va
|
Spinal Muscular Atrophy, Distal, Type Va
|
Spinal Muscular Atrophy, Distal, Type V
|
Distal Spinal Muscular Atrophy Type V
|
Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
Distal Hereditary Motor Neuronopathy Type 5a
|
Distal Hmn Va
|
Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
Distal Hereditary Motor Neuronopathy, Type V
|
Distal Spinal Muscular Atrophy, Type V
|
Spinal Muscular Atrophy, Distal Type V
|
Distal Hereditary Motor Neuropathy Type 5
|
Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
Dsma-V
|
Hmn Va
|
Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
Spinal Muscular Atrophy Distal With Upper Limb Predominance
|
Neuropathy, Distal Hereditary Motor, Type V
|
Neuropathy, Motor, Distal, Hereditary, Type Va
|
|
|
Gm1-Gangliosidosis, Type Iii |
Gm1 Gangliosidosis Type 3
|
GM1G3
|
Gangliosidosis, Generalized Gm1, Type 3
|
Adult-Onset Gm1 Gangliosidosis
|
Gangliosidosis Gm1 Type 3
|
Gangliosidosis Generalized Gm1 Chronic Type
|
Gangliosidosis, Generalized Gm1, Adult Type
|
Gangliosidosis, Generalized Gm1, Chronic Type
|
Gangliosidosis, Generalized Gm1, Type Iii
|
Adult Gm1 Gangliosidosis
|
Beta-Galactosidase Deficiency Type 3
|
Gm1-Gangliosidosis 3
|
Gangliosidosis Generalized Gm1 Type 3
|
Gm1-Gangliosidosis Generalized Adult Type
|
Gangliosidosis, Gm1 Type Iii
|
|
|
Spastic Paraplegia 9a, Autosomal Dominant |
Hereditary Spastic Paraplegia 9a
|
SPG9A
|
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
|
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
|
Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
|
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux
|
Autosomal Dominant Spastic Paraplegia Type 9a
|
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
|
Spastic Paraplegia 9, Autosomal Dominant
|
|
|
Amyotrophic Lateral Sclerosis Type 6 |
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
|
Als6
|
Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
|
Autosomal Recessive Amyotrophic Lateral Sclerosis 6
|
Sclerosis, Lateral, Amyotrophic, Type Type 6
|
Amyotrophic Lateral Sclerosis 6
|
|
|
Hereditary Spastic Paraplegia 23 |
Lison Syndrome
|
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome
|
Spastic Paraplegia 23
|
Spastic Paraplegia With Pigmentary Abnormalities
|
Spg23
|
|
|
Spastic Paraplegia 80, Autosomal Dominant |
SPG80
|
Hereditary Spastic Paraplegia 80
|
Spastic Paraplegia 80 Autosomal Dominant
|
Doid:0112341
|
|
|
Spastic Paraplegia 53, Autosomal Recessive |
SPG53
|
Hereditary Spastic Paraplegia 53
|
Autosomal Recessive Spastic Paraplegia Type 53
|
Autosomal Recessive Spastic Paraplegia 53
|
Paraplegia, Spastic, Type 53, Autosomal Recessive
|
|
|
Spastic Paraplegia 73, Autosomal Dominant |
SPG73
|
Hereditary Spastic Paraplegia 73
|
Autosomal Dominant Spastic Paraplegia Type 73
|
Autosomal Dominant Spastic Paraplegia 73
|
Paraplegia, Spastic, Autosomal Dominant, Type 73
|
|
|
Spastic Paraplegia 62, Autosomal Recessive |
SPG62
|
Hereditary Spastic Paraplegia 62
|
Autosomal Recessive Spastic Paraplegia Type 62
|
Spastic Paraplegia 62
|
Autosomal Recessive Spastic Paraplegia 62
|
Paraplegia, Spastic, Type 62
|
|
|
Spastic Paraplegia 13, Autosomal Dominant |
SPG13
|
Hereditary Spastic Paraplegia 13
|
Autosomal Dominant Spastic Paraplegia 13
|
Spastic Paraplegia 13
|
Autosomal Dominant Spastic Paraplegia Type 13
|
Spastic Paraplegia-13
|
Paraplegia, Spastic, Type 13
|
|
|
Spastic Paraplegia 8, Autosomal Dominant |
SPG8
|
Hereditary Spastic Paraplegia 8
|
Autosomal Dominant Spastic Paraplegia Type 8
|
Autosomal Dominant Spastic Paraplegia 8
|
Paraplegia, Spastic, Autosomal Dominant, Type 8
|
|
|
Amyotrophic Lateral Sclerosis Type 15 |
Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia
|
Als15
|
Amyotrophic Lateral Sclerosis 15
|
|
|
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
|
|
|
Spastic Paraplegia 50, Autosomal Recessive |
Hereditary Spastic Paraplegia 50
|
SPG50
|
Ap-4 Deficiency Syndrome
|
Ap-4-Associated Hereditary Spastic Paraplegia
|
Adaptor Protein Complex 4 Deficiency
|
Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
|
Cpsq3, Formerly
|
Autosomal Recessive Spastic Paraplegia 50
|
Cpsq3
|
Spastic Quadriplegic Cerebral Palsy 3
|
Ap-4 Deficiency
|
Ap-4-Associated Hsp
|
Paraplegia, Spastic, Autosomal Recessive, Type 50
|
Spastic Paraplegia-50, Autosomal Recessive
|
|
|
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
|
|
|
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
MCC2D
|
Mcc2 Deficiency
|
3-Methylcrotonyl Coa Carboxylase 2 Deficiency
|
3-Methylcrotonylglycinuria Ii
|
Methylcrotonylglycinuria, Type Ii
|
3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency
|
3-Methylcrotonylglycinuria Type Ii
|
Mcgii
|
Methylcrotonylglycinuria Type Ii
|
|
|
Spastic Paraplegia 34, X-Linked |
SPG34
|
Hereditary Spastic Paraplegia 34
|
X-Linked Spastic Paraplegia Type 34
|
X-Linked Spastic Paraplegia 34
|
|
|
Pontocerebellar Hypoplasia, Type 2e |
Pontocerebellar Hypoplasia Type 2
|
Pontocerebellar Hypoplasia Type 2e
|
Pch2
|
PCH2E
|
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy
|
Pontocerebellar Hypoplasia 2e
|
Pcca2
|
Progressive Cerebello-Cerebral Atrophy Type 2
|
Doid:0112328
|
Hypoplasia, Pontocerebellar, Type 2e
|
Pontocerebellar Hypoplasia, Type 2d
|
Pontocerebellar Hypoplasia Type 2a
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2t |
CMT2T
|
Charcot-Marie-Tooth Disease Axonal Type 2t
|
Charcot-Marie-Tooth Neuropathy, Type 2t
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t
|
Ar-Cmt2t
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t
|
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2
|
Charcot-Marie-Tooth Neuropathy Type 2t
|
Charcot-Marie-Tooth Disease Type 2t
|
Mme-Related Autosomal Dominant Cmt2
|
Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2
|
Charcot-Marie-Tooth Disease 2t
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2t
|
|
|
Amyotrophic Lateral Sclerosis 4, Juvenile |
Amyotrophic Lateral Sclerosis Type 4
|
ALS4
|
Amyotrophic Lateral Sclerosis 4
|
Dhmn With Upper Motor Neuron Signs
|
Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs
|
Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
|
Als 4
|
Distal Hereditary Motor Neuropathy With Pyramidal Features
|
Amyotrophic Lateral Sclerosis Juvenile 4
|
Neuronopathy Distal Hereditary Motor With Pyramidal Features
|
Sclerosis, Lateral, Amyotrophic, Type Type 4
|
|
|
Kufor-Rakeb Syndrome |
Park9
|
Krppd
|
KRS
|
Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
|
Autosomal Recessive Parkinson Disease 9
|
Parkinson Disease 9
|
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset
|
Autosomal Recessive Juvenile Onset Parkinson Disease 9
|
Parkinson Disease Type 9
|
Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
|
Park 9
|
Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
|
Cln12 Disease
|
Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
|
Parkinson Disease Autosomal Recessive 9
|
|
|
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
Amyotrophic Lateral Sclerosis Type 10
|
ALS10
|
Amyotrophic Lateral Sclerosis 10, With Or Without Ftd
|
Frontotemporal Lobar Degeneration, Tardbp-Related
|
Amyotrophic Lateral Sclerosis 10
|
Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
|
Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions
|
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions
|
Sclerosis, Lateral, Amyotrophic, Type Type 10
|
|
|
Spastic Paraplegia 7, Autosomal Recessive |
SPG7
|
Hereditary Spastic Paraplegia 7
|
Spastic Paraplegia Type 7
|
Spastic Paraplegia 7
|
Hereditary Spastic Paraplegia, Paraplegin Type
|
Autosomal Recessive Spastic Paraplegia 7
|
Hereditary Spastic Paraplegia Paraplegin Type
|
Spastic Paraplegia-7
|
Paraplegia, Spastic, Autosomal Recessive, Type 7
|
Spastic Paraplegia, Hereditary
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
|
|
Cerebrotendinous Xanthomatosis |
CTX
|
Cerebral Cholesterinosis
|
Cholestanol Storage Disease
|
Xanthomatosis, Cerebrotendinous
|
Sterol 27-Hydroxylase Deficiency
|
Xanthomatosis Cerebrotendinous
|
Cerebrotendinous Cholesterinosis
|
Cholestanolosis
|
Van Bogaert-Scherer-Epstein Disease
|
|
|
Neurodegeneration With Brain Iron Accumulation 5 |
NBIA5
|
Beta-Propeller Protein-Associated Neurodegeneration
|
Bpan
|
Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
|
Senda
|
Neurodegeneration With Brain Iron Accumulation Type 5
|
Neurodegeneration With Brain Iron Accululation 5
|
Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
|
Neurodegeneration, With Brain Iron Accululation, Type 5
|
|
|
Amyotrophic Lateral Sclerosis Type 12 |
Amyotrophic Lateral Sclerosis 12
|
Als12
|
Sclerosis, Lateral, Amyotrophic, Type Type 12
|
|
|
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
Amyotrophic Lateral Sclerosis 8 |
Amyotrophic Lateral Sclerosis Type 8
|
ALS8
|
Sclerosis, Lateral, Amyotrophic, Type Type 8
|
|
|
Spastic Paraplegia 17, Autosomal Dominant |
Silver Syndrome
|
SPG17
|
Silver Spastic Paraplegia Syndrome
|
Spastic Paraplegia With Amyotrophy Of Hands And Feet
|
Hereditary Spastic Paraplegia 17
|
Autosomal Dominant Spastic Paraplegia Type 17
|
Spastic Paraplegia 17
|
Spastic Paraplegia-Amyotrophy Of Hands And Feet
|
Autosomal Dominant Spastic Paraplegia 17
|
Dhmn5b
|
Distal Hereditary Motor Neuropathy Type 5b
|
Paraplegia, Spastic, Autosomal Dominant, Type 17
|
Russell-Silver Syndrome
|
Neuronopathy, Distal Hereditary Motor, Type Vb
|
|
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
FTDALS1
|
Frontotemporal Dementia And/Or Motor Neuron Disease
|
Ftdmnd
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
|
Alsftd
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1
|
Frontotemporal Dementia With Motor Neuron Disease
|
Ftdals
|
Ftd-Als
|
Ftd-Mnd
|
Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1
|
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
|
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
|
Frontotemporal Lobar Degeneration
|
Grn-Related Frontotemporal Dementia
|
|
|
Retinal Degeneration |
|
|
Hemochromatosis, Type 1 |
Hemochromatosis
|
Hemochromatosis Type 1
|
Hereditary Hemochromatosis
|
Hh
|
HFE1
|
Hfe Hemochromatosis, Modifier Of
|
Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
Iron Storage Disorder
|
Bronze Diabetes
|
Hereditary Haemochromatosis
|
Hlah
|
Hfe
|
Hemochromatosis, Hereditary
|
Diabetes Bronze
|
Classic Hemochromatosis
|
Hfe-Associated Hereditary Hemochromatosis
|
Hemochromatosis Classic
|
Bronzed Cirrhosis
|
Familial Hemochromatosis
|
Genetic Hemochromatosis
|
Hc
|
Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
Bronze Cirrhosis
|
|
|
Spastic Ataxia |
|
|
Neurodegeneration With Brain Iron Accumulation |
Nbia
|
Neurodegeneration With Brain Iron Accumulation Disorders
|
Neurodegeneration, With Brain Iron Accumulation
|
|
|
Movement Disease |
Movement Disorders
|
Movement Disorder
|
|
|
Cerebellar Disease |
Cerebellar Diseases
|
Cerebellar Dysfunction
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
Hypomyelinating Leukodystrophy |
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
Neuronal Ceroid Lipofuscinosis |
Hereditary Ceroid Lipofuscinosis
|
Batten Disease
|
Ncl
|
Neuronal Ceroid-Lipofuscinoses
|
Lipofuscinosis, Ceroid, Neuronal
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
Ceroid-Lipofuscinosis
|
Ncl - [Neuronal Ceroid Lipofuscinosis]
|
Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
|
|
|
Parkinson Disease, Late-Onset |
Parkinson Disease
|
Parkinson'S Disease
|
PD
|
PARK
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
Parkinson Disease Nos
|
Parkinson, Nos
|
Primary Parkinson Disease
|
|
|
Autosomal Dominant Cerebellar Ataxia |
Spinocerebellar Ataxia
|
Adca
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
Spinocerebellar Ataxias
|
|
|
Neuromuscular Disease |
Neuromuscular Diseases
|
Neuromuscular Disorders
|
Neuromuscular Disorder
|
|
|
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
|
|
|
Peripheral Nervous System Disease |
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|