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Disease Ontology Browser
junctional epidermolysis bullosa with pyloric atresia (DOID:0060733)
Alliance: disease page
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory