| Metadata | |
|---|---|
| ID | DOID:0060733 |
| Name | junctional epidermolysis bullosa with pyloric atresia |
| Definition | A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. https://www.ncbi.nlm.nih.gov/pubmed/16473856, https://www.ncbi.nlm.nih.gov/pubmed/7545057, https://www.ncbi.nlm.nih.gov/pubmed/9185503 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carmi syndrome [EXACT] epidermolysis bullosa junctionalis with pyloric atresia [EXACT] JEB-PA [EXACT] junctional epidermolysis bullosa-pyloric atresia syndrome [EXACT] |
| Parent Relationships |