Details of Disease

General Information of Disease (ID: DISUXSR3)

Disease Name Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Synonyms
epidermolysis bullosa simplex, autosomal recessive 2; EBSB2; DST-related epidermolysis bullosa simplex; epidermolysis bullosa simplex due to BP230 deficiency; epidermolysis bullosa simplex, autosomal recessive type 2; EBS-AR BP230; epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency; epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DISUXSR3: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Disease Identifiers
MONDO ID
MONDO_0014180
UMLS CUI
C3809470
OMIM ID
615425
MedGen ID
815800
Orphanet ID
412181

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
DST OTHZBM4X Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.