| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| 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://ctdbase.org/detail.go?type=disease&acc=MESH:C567408 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Epidermolysis Bullosa Simplex With Pyloric Atresia from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| PLEC | plectin | 2.88009 |
