| 疾病名称 |
别名 |
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| Spastic Paraplegia 12, Autosomal Dominant |
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SPG12
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Hereditary Spastic Paraplegia 12
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Autosomal Dominant Spastic Paraplegia Type 12
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Autosomal Dominant Spastic Paraplegia 12
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Spastic Paraplegia 12
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Spastic Paraplegia-12
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Paraplegia, Spastic, Autosomal Dominant, Type 12
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|
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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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| Spastic Paraplegia 61, Autosomal Recessive |
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SPG61
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Hereditary Spastic Paraplegia 61
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Autosomal Recessive Spastic Paraplegia Type 61
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Autosomal Recessive Spastic Paraplegia 61
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Paraplegia, Spastic, Type 61, Autosomal Recessive
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| Spastic Paraplegia 57, Autosomal Recessive |
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SPG57
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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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| Spastic Paraplegia 9a, Autosomal Dominant |
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Hereditary Spastic Paraplegia 9a
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SPG9A
|
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Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
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Ad-Spg9a
|
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Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome
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Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
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Autosomal Dominant Complex Spastic Paraplegia Type 9a
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Autosomal Dominant Spastic Paraplegia 9a
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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 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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| Spastic Paraplegia 18, Autosomal Recessive |
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SPG18
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Idmdc
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Hereditary Spastic Paraplegia 18
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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
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Paraplegia, Spastic, Type 18
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| Hereditary Spastic Paraplegia |
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Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
|
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Strumpell-Lorrain Disease
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Familial Spastic Paraparesis
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Hsp
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Spg
|
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Strümpell-Lorrain Disease
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Spastic Paraplegia, Hereditary
|
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French Settlement Disease
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Strumpell-Lorrain Syndrome
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Fsp
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Spastic Paraplegia, Familial
|
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Spastic Paraplegia Hereditary
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Spastic Paraplegia 3, Autosomal Dominant
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Spastic Paraparesis
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Hereditary Spastic Paralysis
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Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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| Spastic Paraplegia 2, X-Linked |
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SPG2
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Hereditary Spastic Paraplegia 2
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Sppx2
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Spastic Paraplegia Type 2
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Spastic Paraplegia 2
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Hereditary X-Linked Recessive Spastic Paraplegia
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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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| Microcephaly, Seizures, And Developmental Delay |
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MCSZ
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Developmental And Epileptic Encephalopathy 10
|
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Epileptic Encephalopathy, Early Infantile, 10
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Eiee10
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Dee10
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Early Infantile Epileptic Encephalopathy 10
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| Spastic Paraplegia 13, Autosomal Dominant |
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SPG13
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Hereditary Spastic Paraplegia 13
|
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Autosomal Dominant Spastic Paraplegia 13
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Spastic Paraplegia 13
|
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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 4, Autosomal Dominant |
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SPG4
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Hereditary Spastic Paraplegia 4
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Fsp2
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Autosomal Dominant Spastic Paraplegia Type 4
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Familial Spastic Paraplegia, Autosomal Dominant, 2
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Autosomal Dominant Spastic Paraplegia 4
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Familial Spastic Paraplegia Autosomal Dominant 2
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Paraplegia, Spastic, Autosomal Dominant, Type 4
|
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| Spastic Paraplegia 73, Autosomal Dominant |
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SPG73
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Hereditary Spastic Paraplegia 73
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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 5a, Autosomal Recessive |
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SPG5A
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Hereditary Spastic Paraplegia 5a
|
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Autosomal Recessive Spastic Paraplegia 5a
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Autosomal Recessive Spastic Paraplegia Type 5a
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Spastic Paraplegia 5a
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Spastic Paraplegia Type 5a
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Spastic Paraplegia Type 5a, Recessive
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Autosomal Recessive Spastic Paraplegia
|
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Spastic Paraplegia-5a
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Paraplegia, Spastic, Autosomal Recessive, Type 5a
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| Spastic Paraplegia 20, Autosomal Recessive |
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Troyer Syndrome
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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
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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
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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
|
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Spastic Paraplegia Autosomal Recessive Troyer Type
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Trs
|
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Spastic Paraplegia Hereditary Autosomal Recessive
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Spastic Paraplegia, Hereditary
|
|
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| Nescav Syndrome |
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NESCAVS
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Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
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Mrd9
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Intellectual Disability, Autosomal Dominant 9
|
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Mental Retardation, Autosomal Dominant 9, Formerly
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Mrd9, Formerly
|
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Autosomal Dominant Intellectual Disability 9
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Autosomal Dominant Non-Syndromic Intellectual Disability 9
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Mental Retardation, Autosomal Dominant 9
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| Spastic Paraplegia 31, Autosomal Dominant |
|
SPG31
|
Hereditary Spastic Paraplegia 31
|
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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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| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
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Hereditary Spastic Paraplegia 10
|
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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
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Autosomal Dominant Spastic Paraplegia 10
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Autosomal Dominant Spastic Paraplegia
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Spastic Paraplegia, Autosomal Dominant
|
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Paraplegia, Spastic, Autosomal Dominant, Type 10
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| Neuropathy, Hereditary Sensory, Type Iic |
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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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| Masa Syndrome |
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L1 Syndrome
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Crash Syndrome
|
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X-Linked Hydrocephalus Syndrome
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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
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L1cam Syndrome
|
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Spastic Paraplegia 1
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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
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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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| Spastic Paraplegia 42, Autosomal Dominant |
|
SPG42
|
Hereditary Spastic Paraplegia 42
|
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Autosomal Dominant Spastic Paraplegia Type 42
|
Autosomal Dominant Spastic Paraplegia 42
|
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Paraplegia, Spastic, Type 42, Autosomal Dominant
|
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| Spastic Ataxia |
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