Details of Disease

General Information of Disease (ID: DIS1UMS1)

Disease Name Localized junctional epidermolysis bullosa, non-Herlitz type
Synonyms JEB-nH loc
Definition Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.
Disease Hierarchy
DISQM23S: Junctional epidermolysis bullosa, non-Herlitz type
DIS1UMS1: Localized junctional epidermolysis bullosa, non-Herlitz type
Disease Identifiers
MONDO ID
MONDO_0016673
UMLS CUI
C5700116
MedGen ID
1814511
Orphanet ID
251393
SNOMED CT ID
1254890002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL17A1 OTID5AH2 Supportive Autosomal recessive [1]
ITGB4 OT28UK84 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.