Term Name: | junctional epidermolysis bullosa with pyloric atresia |
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Synonyms: | Carmi syndrome, epidermolysis bullosa junctionalis with pyloric atresia, JEB-PA, junctional epidermolysis bullosa-pyloric atresia syndrome |
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. |
Ontology: | Human Disease [DOID:0060733] ( DOID:0060733 ) |