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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Complex Hereditary Spastic Paraplegia
Alias:
Complicated Hereditary Spastic Paraplegia
Complicated Familial Spastic Paraplegia
Complex Familial Spastic Paraplegia
Complicated Hsp
Complicated Spg
Complex Hsp
Complex Spg
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
复杂性遗传性痉挛性截瘫,又称复杂性遗传性痉挛性截瘫,与masa综合征和常染色体隐性遗传性痉挛性截瘫有关。与复杂性遗传性痉挛性截瘫有关的重要基因是ABHD16A(脂水解酶域含16A,磷脂酶)。附属组织包括脊髓和杏仁核。
Related ID:
MALACARDS:CMP101
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
3
--
CMP101
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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