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Disease Ontology Browser
junctional epidermolysis bullosa with pyloric atresia (DOID:0060733)
Synonyms: Carmi syndrome; epidermolysis bullosa junctionalis with pyloric atresia; JEB-PA; junctional epidermolysis bullosa-pyloric atresia syndrome
Alt IDs: OMIM:226730, ICD10CM:Q81.8, ORDO:79403
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory