Details of Disease

General Information of Disease (ID: DIS3PBSM)

Disease Name Inherited epidermolysis bullosa
Synonyms hereditary epidermolysis bullosa; epidermolysis bullosa hereditaria
Definition Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
Disease Hierarchy
DISVOTZQ: Epidermolysis bullosa
DISIDQ39: Epidermal disease
DISSCALK: Hereditary skin disorder
DIS3PBSM: Inherited epidermolysis bullosa
Disease Identifiers
MONDO ID
MONDO_0019276
UMLS CUI
C1274224
MedGen ID
697573
Orphanet ID
79361

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
JUP TTREN0G Strong 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
JUP OTUH7VMO 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.