|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. (Human Phenotype Ontology, HP_0002049)|
|Downloads & Tools|
5 genes associated with the proximal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.