Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails (B-DEB)

Alias:
Epidermolysis Bullosa Dystrophica, Bart Type
Ebd, Bart Type
Epidermolysis Bullosa, Congenital Localized Absence of Skin and Nail Deformity
Dominant Dystrophic Epidermolysis Bullosa with Absence of Skin
B-Deb
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails, is also known as epidermolysis bullosa dystrophica, bart type. An important gene associated with Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin and lung.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
1
11
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top