Junctional Epidermolysis Bullosa Non-Herlitz Type (GABEB)

Alias:
Junctional Epidermolysis Bullosa, Non-Herlitz Type
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Junctional Epidermolysis Bullosa Generalisata Mitis
Generalized Atrophic Benign Epidermolysis Bullosa
Junctional Epidermolysis Bullosa, Disentis Type
Jeb-Nh Gen
Jen-Nh
Gabeb
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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
交界性大疱性表皮松解症非赫尔茨型,又称交界性大疱性表皮松解症,非赫尔茨型,与大疱性表皮松解症,交界性4型,中间型和中间型泛发性交界性大疱性表皮松解症有关。与交界性大疱性表皮松解症非赫尔茨型相关的基因是LAMB3(层粘连蛋白亚基β3),其相关通路/超级通路包括ERK信号通路和整合素通路。附属组织包括皮肤,相关表型为生长/大小/身体部位和消化/消化道
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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15
131
32

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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