autosomal recessive distal renal tubular acidosis
The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:1060161
inherited distal renal tubular acidosis
is_a
AR dRTA
exact
autosomal recessive distal RTA
exact
autosomal recessive distal renal tubular acidosis (disease)
exact
distal renal tubular acidosis (disease), autosomal recessive
exact
SPBC543.05c SPAC637.05c SPAC16E8.07c