Disease association ontology term - MONDO:0011422 - autosomal recessive proximal renal tubular acidosis
Term summary
- ID
- MONDO:0011422
- Name
- autosomal recessive proximal renal tubular acidosis
- Ontology or CV name
- Disease association
- Definition
- 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.
