Details of Disease

General Information of Disease (ID: DISB6SS2)

Disease Name Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
Synonyms EBS2D
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DISB6SS2: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0030535
UMLS CUI
C5562014
OMIM ID
619599
MedGen ID
1794224

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 recessive [1]
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References

1 Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex. Mol Biol Cell. 2001 Jun;12(6):1775-89. doi: 10.1091/mbc.12.6.1775.