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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Bartter syndrome +  
Central nervous system calcification - deafness - tubular acidosis - anemia 
Dent disease +  
Distal renal tubular acidosis with anemia 
Elevated circulating glutaric acid concentration 
familial renal glucosuria 
Fanconi renotubular syndrome +  
Gitelman syndrome 
inherited renal tubular disease +  
Liddle syndrome +  
metabolic acidosis 
Osteopetrosis with renal tubular acidosis 
pseudohypoaldosteronism +  
renal hypomagnesemia 3 
renal tubular acidosis +  
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.

Synonyms
Alternate IDs: MONDO:0001909
Xrefs: DOID:14219 ;   GARD:7552 ;   ICD9:588.89 ;   MEDGEN:90 ;   MESH:D000141 ;   NANDO:2100019 ;   NANDO:2200144 ;   SCTID:1776003 ;   UMLS:C0001126 ;   icd11.foundation:1272869150
see_also: https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis" xsd:anyURI {source="GARD:0007552
Definition Sources: MESH:D000141

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