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epidermolysis bullosa simplex with pyloric atresia

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Uniprot Description Autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.
Mondo Term and Equivalent IDs
MONDO:0012807:  epidermolysis bullosa simplex with pyloric atresia
MESH:C567408: 
Orphanet:158684: 
SCTID:716701004: 
UMLS:C2677349: