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autosomal recessive distal renal tubular acidosis

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
Mondo Term and Equivalent IDs
MONDO:0018440:  autosomal recessive distal renal tubular acidosis
Orphanet:402041: 
UMLS:C1864498: