Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
psoriatic arthritis, susceptibility to	MONDO_0100232	[An inherited susceptibility or predisposition to developing psoriatic arthritis.]
inherited disease susceptibility	MONDO_0020573	[A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.]
paroxysmal familial ventricular fibrillation	MONDO_0100234	[A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.]
ventricular fibrillation	EFO_0004287	[A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC), A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST.]
uridine	CHEBI_16704	[A ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N(1)-glycosidic bond.]
GM17175	CLO_0014033	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
GM17174	CLO_0014034	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
cutis laxa	MONDO_0016175	[Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.]
inherited Fanconi renotubular syndrome	MONDO_0100238	[An instance of Fanconi renotubular syndrome that is inherited.]
Fanconi renotubular syndrome	MONDO_0001083	[A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.]
inherited hypertrophic pyloric stenosis	MONDO_0100239	[An instance of hypertrophic pyloric stenosis that is inherited.]
infantile hypertrophic pyloric stenosis	EFO_0004707	[This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition., An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.]
hypaphorine	CHEBI_5832	[An amino acid betaine obtaine by exhaustive methylation of the alpha-amino group of L-tryptophan with concomitant deprotonation of the carboxy group.]
blood platelet disease	MONDO_0002245	[Disorders caused by abnormalities in platelet count or function.]
glioma susceptibility	MONDO_0100242	[An inherited susceptibility or predisposition to developing glioma.]
obsolete acquired paroxysmal nocturnal hemoglobinuria	MONDO_0100245
migraine with or without aura, susceptibility to	MONDO_0100246	[An inherited susceptibility or predisposition to developing migraines with or without aura.]
46,XX testicular disorder of sex development	MONDO_0100249	[46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.]
antenna	UBERON_0000972	[The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head.]
GM17793	CLO_0016678	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]