Details of Disease

General Information of Disease (ID: DIS6SBME)

Disease Name Epidermolysis bullosa simplex 2B, generalized intermediate
Synonyms EBS2B
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DIS6SBME: Epidermolysis bullosa simplex 2B, generalized intermediate
Disease Identifiers
MONDO ID
MONDO_0030525
UMLS CUI
C5562009
OMIM ID
619588
MedGen ID
1794219

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT5 OTVGI9HT Strong Autosomal dominant [1]
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References

1 Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex. Eur J Hum Genet. 1999 Apr;7(3):293-300. doi: 10.1038/sj.ejhg.5200292.