Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Abnormality of the pulmonary veins	HP_0011718	[An abnormality of the pulmonary veins.]
Aortic stiffness	HP_0030965	[The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.]
Abnormal aortic physiology	HP_0030964
Low cholesterol esterification rate	HP_0003349	[A reduction in the rate of cholesterol esterification.]
3-Methylglutaric aciduria	HP_0003344
3-Methylglutaconic aciduria	HP_0003535	[An increased amount of 3-methylglutaconic acid in the urine.]
obsolete Abnormal aortic morphology	HP_0030963
Reduced glutathione synthetase activity	HP_0003343	[Reduced activity of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.]
liposaccharide metabolic process	GO_1903509	[The chemical reactions and pathways involving liposaccharide.]
Microspherophakia	HP_0030961	[Lens of the eye is smaller than normal and spherically shaped.]
Elevated urinary norepinephrine	HP_0003345	[An increased concentration of noradrenaline in the urine.]
Elevated urinary catecholamines	HP_0011976	[An increased concentration of catecholamine in the urine.]
3-hydroxydicarboxylate(2-)	CHEBI_133251	[A dicarboxylic acid dianion that results from the removal of a proton from both of the carboxylic acid groups of any 3-hydroxydicarboxylic acid.]
obsolete Abnormal dermatological laboratory findings	HP_0003340
Junctional split	HP_0003341	[The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.]
Abnormal blistering of the skin	HP_0008066	[The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.]
amide biosynthetic process	GO_0043604	[The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group.]
Abnormal pulmonary vein physiology	HP_0030969	[An abnormality of the function of the pulmonary veins.]
pronephric nephron tubule epithelial cell	CL_1000090
obsolete Abnormal pupillary morphology	HP_0030960