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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 5a, Intermediate (JEB5A)
Alias:
Epidermolysis Bullosa, Junctional 5a, Generalized Intermediate
Epidermolysis Bullosa, Junctional 5a, Non-Herlitz Type
Jeb5a
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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,连接型5a,中间型,又称表皮松解性水疱病,连接型5a,普遍中间型,与表皮松解性单纯疱疹1c,局部和表皮松解性单纯疱疹有关。与表皮松解性水疱病,连接型5a,中间型相关的重要的基因是ITGB4(整合素β4亚基)。相关组织包括皮肤,相关表型包括尿道狭窄和皮肤异常起泡。
Related ID:
MALACARDS:EPD124
OMIM:619816
MESH:D016109
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
12
6
EPD124
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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