Epidermolysis Bullosa Simplex Generalized Type

Alias:
Epidermolysis Bullosa Simplex Koebner Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex Generalized Type, also known as epidermolysis bullosa simplex koebner type, is related to autosomal dominant generalized epidermolysis bullosa simplex, intermediate form and epidermolysis bullosa simplex 1b, generalized intermediate. An important gene associated with Epidermolysis Bullosa Simplex Generalized Type is KRT5 (Keratin 5), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. Affiliated tissues include skin, and related phenotypes are limbs/digits/tail and immune system
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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5
47
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Medical Symptom

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Gene & Mutation

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References Literature

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