autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a
MONDO:0019741
familial cystic renal disease
is_a
PKDTS
related
polycystic kidney disease, infantile severe, with tuberous sclerosis
related
polycystic kidneys, severe infantile with tuberous sclerosis
related
tuberous sclerosis polycystic kidney disease contiguous gene syndrome
related
tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
exact