Epidermolysis Bullosa Simplex
Disease ID: disease_node_8575
Connections displayed (default: 10).
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| Dbxref | GARD:10752, ICD10CM:Q81.0, MESH:D016110, MIM:601001, MIM:615425, NCI:C84692, ORDO:304, SNOMEDCT_US_2023_03_01:205585003, UMLS_CUI:C0079298 |
|---|---|
| Subclassof | DOID_2730 |
| Data Source | DOID, MESH |
| Mesh Id | D016110 |
| Mesh Label | Epidermolysis Bullosa Simplex |
| Mesh Subclassof | D004820 |
| Doid Label | epidermolysis bullosa simplex |
| Doid Description | An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. |
| Disease Node Id | disease_node_8575 |
| Doid Id | DOID_4644 |
| Label | Epidermolysis Bullosa Simplex |
- Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa(ID:disease_node_2967) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Simplex Localized Type(ID:disease_node_14234) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Simplex Ogna Type(ID:disease_node_14235) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Simplex Dowling-Meara Type(ID:disease_node_14236) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Simplex Generalized Type(ID:disease_node_14233) (Disease)