| 疾病名称 |
别名 |
|
| Spastic Paraplegia 20, Autosomal Recessive |
|
Troyer Syndrome
|
SPG20
|
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Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting
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Spastic Paraplegia, Autosomal Recessive, Troyer Type
|
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Autosomal Recessive Spastic Paraplegia Type 20
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Autosomal Recessive Hereditary Spastic Paraplegia
|
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Spastic Paraplegia 20
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Cross-Mckusick Syndrome
|
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Autosomal Recessive Spastic Paraplegia 20
|
Autosomal Recessive Spastic Paraplegia Troyer Type
|
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Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting
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Hereditary Spastic Paraplegia 20
|
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Spastic Paraplegia Type 20
|
Hereditary Spastic Paraplegia
|
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Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome
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Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
|
|
Spastic Paraplegia Autosomal Recessive Troyer Type
|
Trs
|
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Spastic Paraplegia Hereditary Autosomal Recessive
|
Spastic Paraplegia, Hereditary
|
|
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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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| Strabismus |
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Strabismus, Susceptibility To
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Strabismus, Susceptibility To, 1
|
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Strabismus 1
|
|
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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
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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
|
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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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| Aceruloplasminemia |
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Cerebellar Ataxia
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Hypoceruloplasminemia
|
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Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
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Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
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Hypoceruloplasminemia, Hereditary
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Ceruloplasmin Deficiency
|
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Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
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| Spastic Paraplegia 26, Autosomal Recessive |
|
SPG26
|
Hereditary Spastic Paraplegia 26
|
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Autosomal Recessive Spastic Paraplegia Type 26
|
Gm2 Synthase Deficiency
|
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Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia 26
|
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Paraplegia, Spastic, Autosomal Recessive, Type 26
|
|
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| Spastic Paraplegia 39, Autosomal Recessive |
|
SPG39
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Ntemnd
|
|
Hereditary Spastic Paraplegia 39
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Nte-Related Motor Neuron Disorder
|
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Autosomal Recessive Spastic Paraplegia Type 39
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Spastic Paraplegia Due To Neuropathy Target Esterase Mutation
|
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Spastic Paraplegia Due To Nte Mutation
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Spastic Paraplegia 39
|
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Autosomal Recessive Spastic Paraplegia 39
|
Nte Related Motor Neuron Disorder
|
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Paraplegia, Spastic, Type 39
|
|
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| Microcephaly |
|
Microencephaly
|
Microcephalus
|
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Microcephalic
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Nanocephaly
|
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Congenital Microcephaly
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Brain Hypoplasia
|
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Brain Nondevelopment
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Cephalic Hypoplasia
|
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Undeveloped Cerebrum
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Undeveloped Brain
|
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Micrencephalon
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Micrencephaly
|
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| Hereditary Spastic Paraplegia 23 |
|
Lison Syndrome
|
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome
|
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Spastic Paraplegia 23
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Spastic Paraplegia With Pigmentary Abnormalities
|
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Spg23
|
|
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| Spastic Paraplegia 74, Autosomal Recessive |
|
SPG74
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Hereditary Spastic Paraplegia 74
|
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Autosomal Recessive Spastic Paraplegia 74
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Autosomal Recessive Spastic Paraplegia Type 74
|
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Paraplegia, Spastic, Autosomal Recessive, Type 74
|
|
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| Spastic Paraplegia 42, Autosomal Dominant |
|
SPG42
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Hereditary Spastic Paraplegia 42
|
|
Autosomal Dominant Spastic Paraplegia Type 42
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Autosomal Dominant Spastic Paraplegia 42
|
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Paraplegia, Spastic, Type 42, Autosomal Dominant
|
|
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| Mast Syndrome |
|
SPG21
|
Spastic Paraplegia 21, Autosomal Recessive
|
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Autosomal Recessive Spastic Paraplegia Type 21
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Autosomal Recessive Spastic Paraplegia 21
|
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Hereditary Spastic Paraplegia 21
|
|
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| Spastic Paraplegia 9b, Autosomal Recessive |
|
SPG9B
|
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
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Ar-Spg9b
|
|
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| Spastic Paraplegia 18, Autosomal Recessive |
|
SPG18
|
Idmdc
|
|
Hereditary Spastic Paraplegia 18
|
Intellectual Disability, Motor Dysfunction, And Joint Contractures
|
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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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| Masa Syndrome |
|
L1 Syndrome
|
Crash Syndrome
|
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X-Linked Hydrocephalus Syndrome
|
SPG1
|
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Gareis-Mason Syndrome
|
Spastic Paraplegia 1, X-Linked
|
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Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
|
L1cam Syndrome
|
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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
|
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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
|
X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
|
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Adducted Thumbs-Mental Retardation Syndrome
|
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
|
Crash
|
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Masa Syndrome
|
|
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| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
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Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
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Creeping Palsy
|
Creeping Paralysis
|
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Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
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Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Spastic Paraplegia 13, Autosomal Dominant |
|
SPG13
|
Hereditary Spastic Paraplegia 13
|
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Autosomal Dominant Spastic Paraplegia 13
|
Spastic Paraplegia 13
|
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Autosomal Dominant Spastic Paraplegia Type 13
|
Spastic Paraplegia-13
|
|
Paraplegia, Spastic, Type 13
|
|
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| 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
|
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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
|
|
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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
|
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Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
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Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
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| Spastic Paraplegia 4, Autosomal Dominant |
|
SPG4
|
Hereditary Spastic Paraplegia 4
|
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Fsp2
|
Autosomal Dominant Spastic Paraplegia Type 4
|
|
Familial Spastic Paraplegia, Autosomal Dominant, 2
|
Autosomal Dominant Spastic Paraplegia 4
|
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Familial Spastic Paraplegia Autosomal Dominant 2
|
Paraplegia, Spastic, Autosomal Dominant, Type 4
|
|
|
| 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
|
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Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux
|
Autosomal Dominant Spastic Paraplegia Type 9a
|
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Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
|
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Spastic Paraplegia 9, Autosomal Dominant
|
|
|
| Spastic Paraplegia 31, Autosomal Dominant |
|
SPG31
|
Hereditary Spastic Paraplegia 31
|
|
Spastic Paraplegia 31
|
Autosomal Dominant Spastic Paraplegia 31
|
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Autosomal Dominant Spastic Paraplegia Type 31
|
Spastic Paraplegia Type 31
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 31
|
|
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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
|
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Doid:0112348
|
|
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| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Hereditary Sensory And Autonomic Neuropathy Type 2
|
Hsan2
|
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HSAN2A
|
Morvan Disease
|
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Hereditary Sensory And Autonomic Neuropathy Type Ii
|
Neurogenic Acroosteolysis
|
|
Hsan Iia
|
Hsn2a
|
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Hsn Iia
|
Neuropathy, Progressive Sensory, Of Children
|
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Neuropathy, Congenital Sensory
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ii
|
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Hereditary Sensory And Autonomic Neuropathy Type 2a
|
Hereditary Sensory And Autonomic Neuropathy Type Iia
|
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Hsanii
|
Congenital Sensory Neuropathy
|
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Hsan Type Ii
|
Morvan Syndrome
|
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Neuropathy, Hereditary Sensory And Autonomic, Type 2a
|
Morvan'S Disease
|
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Neuropathy, Hereditary Sensory, Type Iia
|
Acroosteolysis, Neurogenic
|
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Acroosteolysis, Giaccai Type
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Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
|
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Hereditary Sensory Autonomic Neuropathy Type 2
|
Giaccai Type Acroosteolysis
|
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Hereditary Sensory Neuropathy Type 2
|
Hereditary Sensory Radicular Neuropathy, Recessive Form
|
|
Hsan2b
|
Hsan2c
|
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Hsan2d
|
Hsn Type Ii
|
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Autosomal Recessive Sensory Radicular Neuropathy
|
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
|
|
Morvan Fibrillary Chorea
|
Neuropathy, Hereditary Sensory And Autonomic, 2a
|
|
Acroosteolysis Giaccai Type
|
Hereditary Sensory Neuropathy Type Iia
|
|
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
|
Progressive Sensory Neuropathy Of Children
|
|
Neuropathy Congenital Sensory
|
Charcot-Marie-Tooth Disease
|
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
|
Hereditary Sensory Autonomic Neuropathy, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
Sensory Neuropathy, Hereditary
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
|
|
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| 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
|
|
|
| Spastic Ataxia |
|
|
