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.]
Abnormal glycosidase enzyme activity HP_0003649 [Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds.]
Lacticaciduria HP_0003648 [An increased concentration of lactic acid in the urine.]
Decreased beta-glucocerebrosidase level HP_0003656 [Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.]
Reduced level of N-acetylglucosaminyltransferase II HP_0003655 [An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.]
Hypomethioninemia HP_0003658 [A decreased concentration of methionine in the blood.]
Vascular granular osmiophilic material deposition HP_0003657 [Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.]
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 level HP_0003654 [An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.]
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 erythrocyte UDP glucose-4-epimerase concentration HP_0410197 [An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
Abnormal erythrocyte UDP glucose-4-epimerase concentration HP_0410196 [An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
Increased CSF urate concentration HP_0410199 [Increased concentration of urate in the cerebrospinal fluid.]
Decreased erythrocyte UDP glucose-4-epimerase concentration HP_0410198 [A decrease in uridine diphosphate glucose-4-epimerase level 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 circulating UDP glucose-4-epimerase concentration HP_0410193 [An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
obsolete Abnormal uridine diphosphate glucose-4-epimerase level HP_0410192
Decreased circulating UDP glucose-4-epimerase concentration HP_0410195 [A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]
Increased circulating UDP glucose-4-epimerase concentration HP_0410194 [An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.]