Details of Disease | DrugMAP

General Information of Disease (ID: DIS2SQRW)

Disease Name	Recessive dystrophic epidermolysis bullosa inversa
Synonyms	RDEB-I; dystrophic epidermolysis bullosa inversa; inverse RDEB; inverse recessive dystrophic epidermolysis bullosa
Definition	Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
Disease Hierarchy	DISVOPLZ: Recessive dystrophic epidermolysis bullosa DIS2SQRW: Recessive dystrophic epidermolysis bullosa inversa
Disease Identifiers	MONDO ID MONDO_0019310 UMLS CUI C1275113 MedGen ID 698413 Orphanet ID 79409 SNOMED CT ID 403809003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL7A1	TTBCOKN	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL7A1	OT3MIRZJ	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.