renal tubular acidosis
A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.
MONDO:0006022
acidosis disorder
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MONDO:0006510
renal tubular transport disease
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MONDO:0021568
renal tubule disorder
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SPAC16E8.07c SPAC637.05c SPBC543.05c