autosomal dominant medullary cystic kidney disease with or without hyperuricemia
A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0019741
familial cystic renal disease
is_a
ADTKD
exact
MCKD
related
autosomal dominant interstitial kidney disease
exact
autosomal dominant medullary cystic kidney disease
exact
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
exact
medullary cystic disease
related
medullary cystic kidney disease
related