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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
Epidermolysis Bullosa, Junctional 2a, Intermediate (JEB2A)
Alias:
Epidermolysis Bullosa, Junctional 2a, Generalized Intermediate
Epidermolysis Bullosa, Junctional 2a, Non-Herlitz Type
Jeb2a
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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
表皮松解性水疱病,联合型2a,中间型,也被称为表皮松解性水疱病,联合型2a,普遍中间型。与表皮松解性水疱病,联合型2a,中间型相关的重要的基因是LAMA3(层粘连蛋白亚基α3)。关联的组织包括皮肤,相关表型是皮肤异常起水疱和口腔黏膜水疱。
Related ID:
MALACARDS:EPD119
OMIM:619783
MESH:D016109
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
2
EPD119
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
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Name
CAS Number
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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