C84652Level 6
Costello Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.
GET
/api/v1/systems/nci_thesaurus/nodes/C84652Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.