All terms in HP

Label Id Description
Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts HP_6000619 [Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts.]
Temporal artery giant cells HP_6000618 [The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.]
Myelokathexis HP_0031160 [Impaired egress of mature neutrophils from bone marrow causing neutropenia.]
Reduced brain glutamate level by MRS HP_0031161 [An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).]
Postterm pregnancy HP_0031169 [A pregnancy that extends to 42 weeks of gestation or beyond.]
Eyelid myokymia HP_0031166 [Involuntary, fine, continuous, undulating contractions of the eyelid.]
Triggered by ingestion of potassium-rich food HP_0031167 [Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.]
Growth arrest lines HP_0031164 [Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.]
Multifocal seizures HP_0031165 [Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).]
Impaired oropharyngeal swallow response HP_0031162 [Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.]
Low femoral bone density HP_0031163 [Reduced bone mineral density of the femur.]
Bicuspid aortic valve with right-left cusp fusion HP_0031119 [A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.]
Single raphe bicuspid aortic valve HP_0031118 [A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.]
Elevated urinary 2-oxovaleric acid level HP_6000600 [The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.]
Purely bicuspid aortic valve HP_0031117 [A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.]
Barrel-shaped tooth HP_0033779 [A tooth crown with convex mesial and distal surfaces.]
retinal ganglion cell CL_0000740 [The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve.]
Elevated urinary isovalerylglycine level HP_6000602 [The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal.]
Leung cusp HP_0033778 [An additional cusp located in the middle of the occlusal surface.]
Elevated urinary 2-hydroxyisocaproic acid level HP_6000601 [The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal.]