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autosomal recessive distal renal tubular acidosis

^ http://purl.obolibrary.org/obo/MONDO_0018440

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. [ Orphanet:402041 ]

Term info

database cross reference
  • UMLS:C1864498 (Orphanet:402041)
  • Orphanet:402041 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1864498, http://purl.obolibrary.org/obo/Orphanet_402041

has exact synonym

distal renal tubular acidosis (disease), autosomal recessive, autosomal recessive distal RTA, autosomal recessive distal renal tubular acidosis (disease), AR dRTA

id

MONDO:0018440