Preferred Name

Renal Aminoacidurias [Disease/Finding]
Synonyms

Aminoaciduria, Renal

Renal Aminoacidurias

ID

http://purl.bioontology.org/ontology/NDFRT/N0000000370

altLabel

Aminoaciduria, Renal

Renal Aminoacidurias

cui

C0002534

MESH DEFINITION

A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.

MESH DUI

D000608

MeSH name

Renal Aminoacidurias

MESH UI

M0000934

NDFRT kind

DISEASE_KIND

notation

N0000000370

NUI

N0000000370

prefLabel

Renal Aminoacidurias [Disease/Finding]

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000003278

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