Dataset | HPO Gene-Disease Associations |
Category | disease or phenotype associations |
Type | phenotype |
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) |
External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0002049 |
Similar Terms | |
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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.