Search Ontology:
Human Disease
junctional epidermolysis bullosa with pyloric atresia
- Term ID
- DOID:0060733
- Synonyms
-
- Carmi syndrome
- epidermolysis bullosa junctionalis with pyloric atresia
- JEB-PA
- 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. (3)
- References
-
- ICD10CM:Q81.8
- MIM:226730
- ORDO:79403
- Ontology
- Human Disease ( DOID:0060733 )
- is a type of
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