Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit (Q108397)
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A condition of the kidney, caused by failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine. This condition is characterised by urinary bicarbonate wasting, acidaemia, with malfunction, malformation, or other anomaly to the eye and decreased intellectual or cognitive functionality.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1593924898 |
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| English | Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit |
A condition of the kidney, caused by failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine. This condition is characterised by urinary bicarbonate wasting, acidaemia, with malfunction, malformation, or other anomaly to the eye and decreased intellectual or cognitive functionality. |
