Details of Disease

General Information of Disease (ID: DISZRA6Y)

Disease Name Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
Synonyms
EBNS; epidermolysis bullosa, nonspecific, autosomal recessive; epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive; EBS-AR exophilin 5; epidermolysis bullosa simplex due to exophilin 5 deficiency
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DISZRA6Y: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0014014
UMLS CUI
C3554367
OMIM ID
615028
MedGen ID
767281
Orphanet ID
412189

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EXPH5 OTOMXDUO Strong Autosomal recessive [1]
ITGA3 OTBCH21D Strong Biomarker [2]
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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.
2 Recently Identified Forms of Epidermolysis Bullosa.Ann Dermatol. 2015 Dec;27(6):658-66. doi: 10.5021/ad.2015.27.6.658. Epub 2015 Dec 7.