Epidermolysis Bullosa, Junctional
Disease ID: disease_node_8570
Connections displayed (default: 10).
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| Dbxref | GARD:2152, MESH:D016109, NCI:C90598, SNOMEDCT_US_2023_03_01:76905008, UMLS_CUI:C0079301 |
|---|---|
| Subclassof | DOID_2730 |
| Data Source | DOID, MESH |
| Synonyms | congenital junctional epidermolysis bullosa |
| Mesh Id | D016109 |
| Mesh Label | Epidermolysis Bullosa, Junctional |
| Mesh Subclassof | D004820 |
| Doid Label | junctional epidermolysis bullosa |
| Doid Description | An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. Xref MGI. |
| Disease Node Id | disease_node_8570 |
| Doid Id | DOID_3209 |
| Label | Epidermolysis Bullosa, Junctional |
- Incoming r'ship
SUBCLASS_OFto/from Junctional Epidermolysis Bullosa With Pyloric Atresia(ID:disease_node_14239) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Junctional Epidermolysis Bullosa Non-Herlitz Type(ID:disease_node_14237) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Junctional Epidermolysis Bullosa Herlitz Type(ID:disease_node_14238) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa(ID:disease_node_2967) (Disease)