| 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 |
| Similar Terms | |
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1 genes associated with the epidermolysis bullosa simplex with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| PLEC | plectin |
