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junctional epidermolysis bullosa with pyloric atresia
Summary
- Synonym
-
- Carmi syndrome
- JEB-PA
- epidermolysis bullosa junctionalis with pyloric atresia
- junctional epidermolysis bullosa-pyloric atresia syndrome
- 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.
- Super Class
- autosomal recessive disease junctional epidermolysis bullosa
External Links
- Disease Ontology
- DOID:0060733
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51570 | Galactokinase |
