Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Bruxism	HP_0003763	[Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.]
Percussion-induced rapid rolling muscle contractions	HP_0003760	[Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.]
regulation of cellular response to stress	GO_0080135	[Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).]
Ocular albinism	HP_0001107	[An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.]
Xanthelasma	HP_0001114	[The presence of xanthomata in the skin of the eyelid.]
Pili torti	HP_0003777	[Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.]
Posterior polar cataract	HP_0001115	[A polar cataract that affects the posterior pole of the lens.]
Macular coloboma	HP_0001116	[A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.]
Antegonial notching of mandible	HP_0003779
Sudden loss of visual acuity	HP_0001117	[Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.]
Leber optic atrophy	HP_0001112	[Degeneration of retinal ganglion cells and their axons.]
obsolete Early cataracts	HP_0001113
Stage 5 chronic kidney disease	HP_0003774	[A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.]
Pulp stones	HP_0003771	[Multiple punctate calcifications in the dental pulp.]
propionate	CHEBI_17272	[The conjugate base of propionic acid; a key precursor in lipid biosynthesis.]
fatty acid anion 3:0	CHEBI_78113	[Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3.]
Boreoeutheria	NCBITaxon_1437010
Eutheria	NCBITaxon_9347
Juvenile cataract	HP_0001118	[A type of cataract that is not apparent at birth but that arises in childhood or adolescence.]
Keratoglobus	HP_0001119	[Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.]