Disease association ontology term - MONDO:0001909 - renal tubular acidosis
Term summary
- ID
- MONDO:0001909
- Name
- renal tubular acidosis
- Ontology or CV name
- Disease association
- Definition
- 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.
