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Autosomal recessive distal renal tubular acidosis

Disease definition

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.

ORPHA:402041

Classification level: Subtype of disorder
  • Synonym(s):
    • AR dRTA
    • Autosomal recessive distal RTA
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: N25.8
  • OMIM: 267300  602722
  • UMLS: C1864498
  • MeSH: -
  • GARD: 4666
  • MedDRA: -

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