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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
Charcot-Marie-Tooth Disease, Axonal, Type 2hh (CMT2HH)
Alias:
Charcot-Marie-Tooth Neuropathy, Type 2hh
Cmt2hh
Charcot-Marie-Tooth Disease, Axonal, 2hh
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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
Charcot-Marie-Tooth病,轴突型2hh,也被称为Charcot-Marie-Tooth神经病,2hh型。与Charcot-Marie-Tooth病,轴突型2hh相关的基因是JAG1(Jagged Canonical Notch Ligand 1)。相关组织包括骨骼肌,相关表型为喉鸣和声带麻痹。
Related ID:
MALACARDS:CHR716
OMIM:619574
MESH:D002607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
20
1
CHR716
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No data available
Gene & Mutation
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References Literature
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No Data Found!
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