junctional epidermolysis bullosa with pyloric atresia

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: itga6

MIM:

MIM:226730 - epidermolysis bullosa junctionalis with pyloric atresia

MIM:226730 - epidermolysis bullosa junctionalis with pyloric atresia

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), junctional epidermolysis bullosa (is_a)