epidermolysis bullosa simplex with pyloric atresia Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. (Orphanet Rare Disease Ontology, Orphanet_158684)
External Link http://www.omim.org/entry/612138
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Genes

1 genes associated with the epidermolysis bullosa simplex with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
PLEC plectin