Details of Disease | DrugMAP

General Information of Disease (ID: DIS0SWCR)

Disease Name	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
Synonyms	epidermolysis bullosa simplex, generalized, with scarring and hair loss; generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss; epidermolysis bullosa simplex 6, generalized, with scarring and hair loss; epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH; generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss; EBSSH
Disease Hierarchy	DIS2CZ6X: Epidermolysis bullosa simplex DIS3HIWD: Autosomal dominant disease DIS0SWCR: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
Disease Identifiers	MONDO ID MONDO_0015006 UMLS CUI C4310631 OMIM ID 617294 MedGen ID 934598 Orphanet ID 508529

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
KLHL24	OTWZSX5C	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.