Junctional Epidermolysis Bullosa With Pyloric Atresia
Disease ID: disease_node_14239
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q81.8, MIM:226730, ORDO:79403 |
|---|---|
| Subclassof | DOID_3209, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Carmi syndrome, JEB-PA, epidermolysis bullosa junctionalis with pyloric atresia, junctional epidermolysis bullosa-pyloric atresia syndrome |
| Doid Label | junctional epidermolysis bullosa with pyloric atresia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14239 |
| Doid Id | DOID_0060733 |
| Label | Junctional Epidermolysis Bullosa With Pyloric Atresia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa, Junctional(ID:disease_node_8570) (Disease)