C84692Level 7
Epidermolysis Bullosa Simplex
**Semantic type:** Disease or Syndrome
**Definition:** A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.
GET
/api/v1/systems/nci_thesaurus/nodes/C84692Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.