| Disease ID | Source | Name | Description |
| 602722 | OMIM | Renal tubular acidosis, distal, autosomal recessive (RTADR) | An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. The disease is caused by variants affecting the gene represented in this entry. |