Epidermolysis Bullosa Dystrophica (DEB)

Epidermolysis Bullosa Dystrophica(来自ICD-11)
别称:
Dystrophic Epidermolysis Bullosa
Deb
Dermolytic Epidermolysis Bullosa
Dystrophic Eb - [epidermolysis Bullosa]
Epidermolysis Bullosa, Dystrophic
Epidermolysis Bullosa, Dermolytic
Epidermolysis Bullosa Dystrophic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to epidermolysis bullosa dystrophica, autosomal recessive and epidermolysis bullosa dystrophica, pretibial. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Pregabalin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include Dermis, skin and eye, and related phenotypes are growth/size/body region and immune system
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相关ID:
MESH:D016108
ICD11:1060981106

基础信息

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参考文献
MALACARDS
AR
AD
Newborn
1-9/1000000
32
271
147

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