Log In|Sign Up
ENEpidermolysis Bullosa, Junctional 1b, Severe (JEB1B)
Alias:
Epidermolysis Bullosa, Junctional, Herlitz Type
Epidermolysis Bullosa Letalis
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
Junctional Epidermolysis Bullosa Generalisata Gravis
Junctional Epidermolysis Bullosa Herlitz Type
Herlitz-Pearson-Type Epidermolysis Bullosa
Jeb-Herlitz Type
Jeb1b
Jeb-H
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
Epidermolysis Bullosa, Junctional, Generalized Severe
Junctional Epidermolysis Bullosa Herlitz-Pearson Type
Severe Generalized Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa Gravis of Herlitz
Epidermolysis Bullosa Junctionalis, Herlitz Type
Herlitz Type Epidermolysis Bullosa Junctionalis
Junctional Epidermolysis Bullosa, Herlitz Type
Junctional Epidermolysis Bullosa Gravis
Severe Generalized Jeb
Epidermolysis Letalis
Herlitz Disease
Favorite
Epidermolysis Bullosa, Junctional 1b, Severe, also known as epidermolysis bullosa, junctional, herlitz type, is related to epidermolysis bullosa, junctional 5b, with pyloric atresia and pyloric atresia, and has symptoms including onychomadesis and exuberant granulation tissue. An important gene associated with Epidermolysis Bullosa, Junctional 1b, Severe is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin and eye, and related phenotypes are failure to thrive and abnormality of the nail
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
