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Summary Literature (0)
DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia


Disease Ontology 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.

Synonyms: Carmi syndrome, JEB-PA, epidermolysis bullosa junctionalis with pyloric atresia, junctional epidermolysis bullosa-pyloric atresia syndrome

Xenbase Genes : itga6, itgb4, plec

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009183 - junctional epidermolysis bullosa with pyloric atresia

OMIM:
OMIM:226730 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): junctional epidermolysis bullosa (is_a)