Mondo Description Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.

Uniprot Description A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.