autosomal recessive proximal renal tubular acidosis
Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0008369
proximal renal tubular acidosis
is_a
MONDO:0015962
inherited renal tubular disease
is_a
MONDO:0019052
inborn errors of metabolism
is_a
AR pRTA
exact
proximal renal tubular acidosis with ocular abnormalities and intellectual disability
exact
proximal renal tubular acidosis, autosomal recessive
exact
renal tubular acidosis, proximal, with ocular abnormalities
exact
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
related
SPBC543.05c