Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Primary renal tubular acidosis
Synonyms
Definitions

A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.
ID

http://www.orpha.net/ORDO/Orphanet_314822
definition

A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314822
hasDbXref

UMLS:C5680966
label

Primary renal tubular acidosis
notation

ORPHA:314822

Clinical group
prefixIRI

ORDO:Orphanet_314822
prefLabel

Primary renal tubular acidosis
subClassOf

http://www.orpha.net/ORDO/Orphanet_93603

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_183592
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