Disease association ontology term - MONDO:0008368 - autosomal dominant distal renal tubular acidosis
Term summary
- ID
- MONDO:0008368
- Name
- autosomal dominant distal renal tubular acidosis
- Ontology or CV name
- Disease association
- Definition
- A distal renal tubular acidosis that is caused by the mutation in SLC4A1 gene and follows the autosomal dominant inheritance. It is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, nephrolithiasis, and metabolic bone disease.
