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autosomal dominant proximal renal tubular acidosis

Disease Summary
Associated Targets ()

Mondo Description Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.
Mondo Term and Equivalent IDs
MONDO:0017829:  autosomal dominant proximal renal tubular acidosis
Orphanet:314889: 
UMLS:CN203801: