Epidermolysis Bullosa, Junctional 4, Intermediate (JEB4)

Alias:
Epidermolysis Bullosa, Generalized Atrophic Benign
Gabeb
Epidermolysis Bullosa, Junctional 4, Non-Herlitz Type
Epidermolysis Bullosa, Junctional, Localisata Variant
Jeb4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa, Junctional 4, Intermediate, also known as epidermolysis bullosa, generalized atrophic benign, is related to epidermolysis bullosa, junctional 1a, intermediate and junctional epidermolysis bullosa non-herlitz type. An important gene associated with Epidermolysis Bullosa, Junctional 4, Intermediate is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Cell junction organization. Affiliated tissues include skin and tongue, and related phenotypes are carious teeth and abnormal blistering of the skin
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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4
53
22

Medical Symptom

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Categorization
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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Name
MGI
Related Gene
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Publications
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References Literature

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