junctional epidermolysis bullosa with pyloric atresia

Term ID

DOID:0060733

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. (3)

References

• ICD10CM:Q81.8
• OMIM:226730
• ORDO:79403

Ontology

Human Disease   ( DOID:0060733 )