Details of Disease

General Information of Disease (ID: DIS2PCPO)

Disease Name Epidermolysis bullosa simplex with nail dystrophy
Synonyms
EBSND; epidermolysis bullosa simplex with nail dystrophy; epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive; epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DIS2PCPO: Epidermolysis bullosa simplex with nail dystrophy
Disease Identifiers
MONDO ID
MONDO_0014661
UMLS CUI
C4225309
OMIM ID
616487
MedGen ID
906476

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
PLEC OTU4XDEG Strong Autosomal recessive [1]
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References

1 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.