loading...| Preferred Name |
renal tubular acidosis |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0001909 |
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| 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. |
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| label |
renal tubular acidosis |
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| prefixIRI |
MONDO:0001909 |
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| prefLabel |
renal tubular acidosis |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis |
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| textual 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. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021568 |