| Disease ID | Source | Name | Description |
| 604278 | OMIM | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) | An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. The disease is caused by variants affecting the gene represented in this entry. |