Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Modic type vertebral endplate changes	HP_0030775	[An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.]
Hippoglossus hippoglossus	NCBITaxon_8267
glycogen storage disease due to muscle and heart glycogen synthase deficiency	MONDO_0012693	[A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.]
Sjogren-Larsson syndrome	MONDO_0010031	[A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.]
estrone measurement	EFO_0007970	[quantification of the amount of estrone in a sample]
obsolete_Roberts syndrome	Orphanet_3103
obsolete_Richieri Costa-Pereira syndrome	Orphanet_3102
obsolete_autosomal dominant rhegmatogenous retinal detachment	Orphanet_209867
obsolete_Richieri Costa-da Silva syndrome	Orphanet_3101
indeterminate sex and/or pseudohermaphroditism	MONDO_0024665
alpha-adrenergic antagonist	CHEBI_37890	[An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma.]
hypertension, pregnancy-induced	MONDO_0024664	[A hypertensive disorder that develops during pregnancy.]
vaccenic acid measurement	EFO_0007974	[The determination of the amount of vaccenic acid present in a sample.]
palmitoleic acid measurement	EFO_0007973	[The determination of the amount of palmitoleic acid present in a sample.]
androstenedione measurement	EFO_0007972	[quantification of androstenedione in a sample]
RIP-seq	EFO_0005310	[A method used for finding which RNA species interact with a particular RNA-binding protein. It involves immunoprecipitation with antibodies for the protein and then isolation of the RNAs associated with the protein. Unlike CLIP-seq, no cross-linking of RNAs and proteins is carried out prior to immunoprecipitation.]
estrone conjugate measurement	EFO_0007971	[quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample]
red blood cell density measurement	EFO_0007978	[quantification of the density of a red blood cell (DRBC). DRBC is affected by the hydration level of the cell, with dehydrated cells being dense and deformed. Increased DRBC may be an indicator of disease severity in sickle cell anemia]
nervonic acid measurement	EFO_0007977	[The determination of the amount of nervonic acid present in a sample.]
sample pooling	EFO_0005316	[Physical combination of several instances of like material, eg RNA extracted from samples or dishes of cell cultures into one big aliquot of cells.]