Epidermolysis Bullosa Simplex 2c, Localized (EBS2C)

Alias:
Epidermolysis Bullosa Simplex 2c, Weber-Cockayne Type
Ebs2c
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex 2c, Localized, also known as epidermolysis bullosa simplex 2c, weber-cockayne type, is related to epidermolysis bullosa and epidermolysis bullosa simplex. An important gene associated with Epidermolysis Bullosa Simplex 2c, Localized is KRT5 (Keratin 5). Affiliated tissues include skin, and related phenotypes are dystrophic toenail and palmoplantar blistering
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
7
13

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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