Localized Dystrophic Epidermolysis Bullosa, Pretibial Form

Alias:
Localized Deb, Pretibial Form
Deb-Pt
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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
局部性营养不良型大疱性表皮松解症,胫前型,又称局部性大疱性表皮松解症,胫前型,与营养不良型大疱性表皮松解症,胫前型和大疱性表皮松解症有关。与局部性营养不良型大疱性表皮松解症,胫前型相关的基因是COL7A1(胶原蛋白7型α1链)。相关组织包括皮肤和眼睛,相关表型为皮肤异常起泡和胫前起泡。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
<1/1000000
1
11
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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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