Disease association ontology term - MONDO:0100534 - SMARCB1-deficient kidney medullary carcinoma
Term summary
- ID
- MONDO:0100534
- Name
- SMARCB1-deficient kidney medullary carcinoma
- Ontology or CV name
- Disease association
- Definition
- A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.
