has characteristic has characteristic has material basis in germline mutation in SLC4A1 Autosomal dominant inheritance autosomal dominant disease autosomal dominant distal renal tubular acidosis https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9345 https://www.malacards.org/card/renal_tubular_acidosis_distal_1 RTA, distal type, autosomal dominant 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. distal renal tubular acidosis (disease), autosomal dominant MONDO:0008368 GARD:0004668 RTA, gradient type Orphanet:93608 RTA, classic type AD dRTA renal tubular acidosis, distal 1 OMIM:179800 DRTA1 autosomal dominant SLC4A1-associated distal renal tubular acidosis distal renal tubular acidosis inherited distal renal tubular acidosis