loading...| Preferred Name | renal tubular acidosis | |
| Synonyms | ||
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0001909 |
|
| database_cross_reference |
NANDO:2200144 SCTID:1776003 MEDGEN:90 icd11.foundation:1272869150 UMLS:C0001126 DOID:14219 NANDO:2100019 MESH:D000141 ICD9:588.89 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. |
|
| id |
MONDO:0001909 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
| label |
renal tubular acidosis |
|
| notation |
MONDO:0001909 |
|
| prefLabel |
renal tubular acidosis |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0001126 http://purl.obolibrary.org/obo/DOID_14219 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1272869150 http://identifiers.org/medgen/90 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0021568 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021568 |