Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form

Alias:
Epidermolysis Bullosa Simplex, Koebner Type
Autosomal Dominant Generalized Ebs, Intermediate Form
Epidermolysis Bullosa Simplex, Köbner Type
Epidermolysis Bullosa Simplex, Kobner Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form, also known as epidermolysis bullosa simplex, koebner type, is related to epidermolysis bullosa simplex generalized type and epidermolysis bullosa simplex 1b, generalized intermediate. An important gene associated with Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form is KRT14 (Keratin 14), and among its related pathways/superpathways are Glucocorticoid receptor regulatory network and Validated transcriptional targets of deltaNp63 isoforms. Affiliated tissues include skin, and related phenotypes are hyperkeratosis and abnormal blistering of the skin
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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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3
26
8

Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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