Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Progressive cone dystrophy	Orphanet_1871
Corpuscular Hemoglobin Content	EFO_0009205	[A measurement of the mean red blood cell hemoglobin content within an individual red blood cell, calculated as the product of cell volume and cell hemoglobin concentration. [ NCI ]]
obsolete_Familial partial lipodystrophy associated with PPARG mutations	Orphanet_79083
Free Hemoglobin Measurement	EFO_0009206	[The determination of the amount of free hemoglobin present in a sample. [ NCI ]]
Eisenmenger syndrome	EFO_0009200	[Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH., Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations (see these terms) with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.]
Pulmonary arterial hypertension associated with congenital heart disease	EFO_0009054	[Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.]
myopic macular degeneration	EFO_0009201
inherited vitreous-retinal disease	MONDO_0020238
tacrine	CHEBI_45980	["An aromatic amine that has formula C13H14N2." []]
cholinesterase inhibitor	CHEBI_37733
drug role	EFO_0001899
Reticulocyte Mean Corpuscular Hemoglobin Measurement	EFO_0009202	[The determination of the mean amount of hemoglobin per reticulocyte present in a sample. [ NCI ]]
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2H	Orphanet_1878
obsolete_lymphatic system	EFO_0000870
obsolete_melorheostosis with osteopoikilosis	Orphanet_1879
obsolete_lymph	EFO_0000871	[Transudate contained in the lumen of lymphatic vessel., A clear, watery, sometimes faintly yellowish fluid derived from body tissues that contains white blood cells and circulates throughout the lymphatic system, returning to the venous bloodstream through the thoracic duct. Lymph acts to remove bacteria and certain proteins from the tissues, transport fat from the small intestine, and supply mature lymphocytes to the blood.]
obsolete_oculogastrointestinal muscular dystrophy	Orphanet_1876
obsolete_lymph node	EFO_0000872	[Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph., They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system.]
Muscular dystrophy - white matter spongiosis	Orphanet_1877
obsolete_Glycosylated Hemoglobin Measurement	EFO_0009207