Details of Disease

General Information of Disease (ID: DIS7SN8E)

Disease Name Late-onset junctional epidermolysis bullosa
Synonyms JEB-lo; EB progressive
Definition Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.
Disease Hierarchy
DISJRXWU: Junctional epidermolysis bullosa
DIS7SN8E: Late-onset junctional epidermolysis bullosa
Disease Identifiers
MONDO ID
MONDO_0019309
UMLS CUI
C4304724
MedGen ID
930393
Orphanet ID
79406
SNOMED CT ID
719432000

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
COL17A1 OTID5AH2 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.