Log In|Sign Up
ENEpidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous (JEB2C)
Alias:
Laryngoonychocutaneous Syndrome
Logic Syndrome
Laryngo-Onycho-Cutaneous Syndrome
Locs
Shabbir Syndrome
Loc Syndrome
Jeb2c
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome
Laryngo-Onychocutaneous Syndrome
Jeb-Loc
Favorite
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous, also known as laryngoonychocutaneous syndrome, is related to junctional epidermolysis bullosa and epidermolysis bullosa, junctional 1b, severe. An important gene associated with Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous is LAMA3 (Laminin Subunit Alpha 3). Affiliated tissues include skin and eye, and related phenotypes are nail dystrophy and hoarse cry
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
