Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
2-hydroxypropanoic acid	CHEBI_78320	[A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.]
Abnormality of glycoside metabolism	HP_0003649	[Abnormality of glycoside metabolism.]
Lacticaciduria	HP_0003648	[An increased concentration of lactic acid in the urine.]
Decreased beta-glucocerebrosidase activity	HP_0003656	[Reduced activity of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.]
Reduced activity of N-acetylglucosaminyltransferase II	HP_0003655	[An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.]
Hypomethioninemia	HP_0003658	[A decreased concentration of methionine in the blood.]
Granular osmiophilic deposits (GROD) in cells	HP_0003657
Recurrent myoglobinuria	HP_0003652	[Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.]
Reduced dihydropyrimidine dehydrogenase activity	HP_0003654	[An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity.]
Cellular metachromasia	HP_0003653	[Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.]
Abnormality of mucopolysaccharide metabolism	HP_0011020	[An abnormality of the metabolism of mucopolysaccharide.]
Increased uridine diphosphate glucose-4-epimerase activity in red blood cells	HP_0410197	[An increase in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells	HP_0410196	[An abnormality in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
Abnormal uridine diphosphate glucose-4-epimerase activity	HP_0410192	[An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.]
Increased CSF urate concentration	HP_0410199	[Increased concentration of urate in the cerebrospinal fluid.]
Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells	HP_0410198	[A decrease in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
xylitol	CHEBI_17151	[A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from xylose by reduction of the carbonyl group.]
Abnormal uridine diphosphate glucose-4-epimerase activity in plasma	HP_0410193	[An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
Decreased uridine diphosphate glucose-4-epimerase activity in plasma	HP_0410195	[A decrease in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
Increased uridine diphosphate glucose-4-epimerase activity in plasma	HP_0410194	[An increase in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]