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junctional epidermolysis bullosa, non-Herlitz type

Disease Summary
Associated Targets (5)
Tbio

5


GARD Rare
Mondo Description Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.
Uniprot Description A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
Mondo Term and Equivalent IDs
MONDO:0009180:  junctional epidermolysis bullosa, non-Herlitz type
GARD:0002151: 
Orphanet:89840: 
SCTID:33662006: