. "JEB-PA"@en . "ORDO:79403"^^ . "ICD10CM:Q81.8"^^ . _:vb50939274 . "epidermolysis bullosa junctionalis with pyloric atresia"@en . "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."^^ . _:vb50939274 . _:vb50939274 . _:vb50939274 . "disease_ontology"^^ . "junctional epidermolysis bullosa with pyloric atresia"^^ . "DOID:0060733"^^ . . "Carmi syndrome"@en . "junctional epidermolysis bullosa-pyloric atresia syndrome"@en . . . _:vb50939274 . "OMIM:226730"^^ .