Term Name: junctional epidermolysis bullosa with pyloric atresia
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 )

Relationships
is a type of: autosomal recessive disease junctional epidermolysis bullosa