Intermediate Generalized Junctional Epidermolysis Bullosa

Alias:
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Junctional Epidermolysis Bullosa Generalisata Mitis
Generalized Atrophic Benign Epidermolysis Bullosa
Junctional Epidermolysis Bullosa, Disentis Type
Intermediate Generalized Jeb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intermediate Generalized Junctional Epidermolysis Bullosa, also known as generalized junctional epidermolysis bullosa, non-herlitz type, is related to epidermolysis bullosa, junctional 4, intermediate and epidermolysis bullosa, junctional 1a, intermediate. An important gene associated with Intermediate Generalized Junctional Epidermolysis Bullosa is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, and related phenotypes are sparse body hair and abnormality of skin pigmentation
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
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5
33
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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IF
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