Details of Disease | DrugMAP

General Information of Disease (ID: DISSN0G8)

Disease Name	Pidermolysis bullosa simplex 5A, Ogna type
Synonyms	epidermolysis bullosa simplex, Ogna type; EBS-O; EBSOG; EBS-Og; epidermolysis bullosa simplex 5A, Ogna type
Definition	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.
Disease Hierarchy	DIS2CZ6X: Epidermolysis bullosa simplex DISSN0G8: Pidermolysis bullosa simplex 5A, Ogna type
Disease Identifiers	MONDO ID MONDO_0007555 MESH ID C535962 UMLS CUI C0432317 OMIM ID 131950 MedGen ID 98488 Orphanet ID 79401 SNOMED CT ID 398071000

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 dominant	[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.