You are using an outdated browser. Please upgrade your browser to improve your experience.

renal tubular acidosis, distal, 4, with hemolytic anemia

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.
Uniprot Description A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis.
Mondo Term and Equivalent IDs
MONDO:0012700:  renal tubular acidosis, distal, 4, with hemolytic anemia
Orphanet:93610: 
UMLS:C1969038: