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Autosomal recessive proximal renal tubular acidosis

MONDO:0011422

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.

Also known as: AR pRTA, proximal renal tubular acidosis with ocular abnormalities and intellectual disability, proximal renal tubular acidosis, autosomal recessive, renal tubular acidosis, proximal, with ocular abnormalities, RTA, proximal, autosomal recessive, renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability, renal tubular acidosis, proximal, with ocular abnormalities and mental retardation

1 clinical trial for this condition and its sub-types, 0 tagged with Autosomal recessive proximal renal tubular acidosis itself.

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