Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
beta-secretase 1 measurement	EFO_0009179	[Quantification of the amount of beta-secretase 1 in a sample, typicallly cerebrospinal fluid. Beta-secretase-1 is an aspartic-acid protease important in the formation of myelin sheaths in peripheral nerve cells, and is thought to have a role in Alzheimer's disease pathogenesis.]
insulin-resistant diabetes mellitus	EFO_0010164	[A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.]
Osteomyelitis leading to amputation due to slow healing fractures	EFO_0010165
osteomyelitis	EFO_0003102	[A bone inflammation disease that results_from infection located_in bone and located_in bone marrow., An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.]
qualitative or quantitative defects of protein ZASP	MONDO_0016190
death in childhood	EFO_0010162	[Death in during childhood, defined here as between the ages of 2 and 10 years.]
mortality	EFO_0004352	[Quantification of the number of deaths in a population.]
dilatation of the sinus of Valsalva	EFO_0010163	[Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.]
thoracic aortic aneurysm	EFO_0004282	[An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta., An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.]
carbonic anhydrase 2	EFO_0010161	[Carbonic anhydrase II (gene name CA2), is one of sixteen forms of human alpha carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of bicarbonate ions in the proximal tubule. Loss of carbonic anhydrase activity in bones impairs the ability of osteoclasts to promote bone resorption, leading to osteopetrosis.]
serositis	MONDO_0043786	[Inflammation of a serous membrane.]
COASY protein-associated neurodegeneration	Orphanet_397725
Cucurbita maxima	NCBITaxon_3661
Cucumis melo	NCBITaxon_3656
UMI barcode	EFO_0010199	[A unique molecular identifier (UMI) barcode is a short nucleotide sequence that is used to identify reads originating from an individual mRNA molecule.]
single cell identifier	EFO_0010197	[A unique identifier for a single cell specimen.]
single cell information	EFO_0010185
cell barcode	EFO_0010198	[A short nucleotide sequence that is added during a single cell library preparation to identify reads from an individual cell.]
Citrullus lanatus	NCBITaxon_3654
cDNA read	EFO_0010195	[The sequencing read that contains the cDNA read.]