Metadata | |
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ID | DOID:0060733 |
Name | junctional epidermolysis bullosa with pyloric atresia |
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. https://www.ncbi.nlm.nih.gov/pubmed/16473856, https://www.ncbi.nlm.nih.gov/pubmed/7545057, https://www.ncbi.nlm.nih.gov/pubmed/9185503 |
Xrefs | |
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DO_rare_slim |
Synonyms |
Carmi syndrome [EXACT] epidermolysis bullosa junctionalis with pyloric atresia [EXACT] JEB-PA [EXACT] junctional epidermolysis bullosa-pyloric atresia syndrome [EXACT] |
Parent Relationships |