General Information of Disease (ID: DISLMRN4)

Disease Name SMARCB1-deficient kidney medullary carcinoma
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.
Disease Hierarchy
:
DISLMRN4: SMARCB1-deficient kidney medullary carcinoma
Disease Identifiers
MONDO ID
MONDO_0100534
UMLS CUI
C5708330
MedGen ID
1817235