loading...| Preferred Name | renal tubular acidosis | |
| 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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| database_cross_reference |
SCTID:1776003 UMLS:C0001126 DOID:14219 MESH:D000141 GARD:0007552 ICD9:588.89 ICD10:N25.89 |
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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0001126 http://purl.obolibrary.org/obo/DOID_14219 http://purl.obolibrary.org/obo/NCIT_C28129 |
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| id |
MONDO:0001909 |
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| imported from | ||
| in_subset | ||
| label |
renal tubular acidosis |
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| notation |
MONDO:0001909 |
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| prefLabel |
renal tubular acidosis |
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| see also |
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 |