National Drug File - Reference Terminology - Fructose Metabolism, Inborn Errors [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Preferred Name	Fructose Metabolism, Inborn Errors [Disease/Finding]
Synonyms	Fructose Metabolism, Inborn Errors
ID	http://purl.bioontology.org/ontology/NDFRT/N0000003218
altLabel	Fructose Metabolism, Inborn Errors
cui	C0016752
MESH DEFINITION	Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
MESH DUI	D015318
MeSH name	Fructose Metabolism, Inborn Errors
MESH UI	M0023586
NDFRT kind	DISEASE_KIND
notation	N0000003218
NUI	N0000003218
prefLabel	Fructose Metabolism, Inborn Errors [Disease/Finding]
tui	T047
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000000658

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MSHFRE/D015318	MSHFRE	CUI
	http://purl.bioontology.org/ontology/MESH/D015318	MESH	CUI