Epidermolysis Bullosa Simplex 5a, Ogna Type (EBS5A)

Alias:
Epidermolysis Bullosa Simplex, Ogna Type
Epidermolysis Bullosa Simplex Ogna Type
Ebs5a
Ebsog
Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement
Plec-Related Intermediate Ebs Without Extracutaneous Involvement
Simplex Epidermolysis Bullosa_ogna Type
Epidermolysis Bullosa Simplex 1
Ebs-Og
Ebs-O
O-Ebs
Ebs1
Ebso
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex 5a, Ogna Type, also known as epidermolysis bullosa simplex, ogna type, is related to plec-related intermediate epidermolysis bullosa simplex without extracutaneous i and epidermolysis bullosa simplex. An important gene associated with Epidermolysis Bullosa Simplex 5a, Ogna Type is PLEC (Plectin). Affiliated tissues include skin and bone marrow, and related phenotypes are palmoplantar keratoderma and hypermelanotic macule
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
8
50
26

Medical Symptom

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

Gene & Mutation

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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
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