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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| database_cross_reference |
SCTID:1776003 UMLS:C0001126 NANDO:2200144 NANDO:2100019 ICD9:588.89 MESH:D000141 DOID:14219 GARD:7552 |
|
| 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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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0001126 http://purl.obolibrary.org/obo/DOID_14219 |
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| id |
MONDO:0001909 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
renal tubular acidosis |
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| notation |
MONDO:0001909 |
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| preferred label |
renal tubular acidosis |
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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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| subClassOf |
http://www.ebi.ac.uk/efo/EFO_1000014 |