Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_hereditary hypercarotenemia and vitamin A deficiency	Orphanet_199285
2-hydroxyisobutyrate measurement	EFO_0010979	[Quantification of 2-hydroxyisobutyrate in a sample.]
Fluidigm C1 microfluidics platform	EFO_0009990	[The Fluidigm C1 is a microfluidic platform for single-cell RNA-Seq and DNA-Seq library preparation. Cell suspensions are added to the integrated fluidic circuit which shuttles individual cells into microfluidic chambers which are flooded with reagents in order to carry out library construction in very small volumes.]
instrument	EFO_0000548	[An instrument is a device which provides a mechanical or electronic function.]
macrovascular complications of diabetes	EFO_0010977	[Macrovascular complications associated with diabetes mellitus, including stroke, heart disease, and peripheral vascular disease.]
chemotherapy-induced cytotoxicity measurement	EFO_0010978	[Quantification of some aspect of cytotoxity such as survival time or cell viability, as a response to a chemotherapic drug.]
cytotoxicity measurement	EFO_0006952	[quantification of some aspect of cytotoxity such as survival time or cell viability]
KOLF2-C1	EFO_0010976	[Human induced pluripotent stem cell line, derived from a healthy white British male, with a normal karyotype. A subclone of WTSIi018-B.]
Dacryocystitis - osteopoikilosis	Orphanet_1562	[Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect.]
UMI-4C	EFO_0009995	[This variation on the 4C approach uses UMIs to derive high-complexity quantitative chromosome contact profiles with controlled signal-to-noise ratios]
3-hydroxyisovalerate measurement	EFO_0010984	[Quantification of 3-hydroxyisovalerate in a sample.]
Japanese encephalitis	EFO_0007332	[A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis., A disease due to a virus transmitted by an arthropod).]
mosquito-borne viral encephalitis	MONDO_0020601	[Viral encephalitis that is transmitted by mosquitos.]
obsolete_Dahlberg-Borer-Newcomer syndrome	Orphanet_1563	[Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.]
endocrine pancreas disorder	MONDO_0001933	[A disease involving the endocrine pancreas.]
ddMDA	EFO_0009996	[Microfluidic digital droplet MDA (ddMDA) technique where partitioning of the template DNA into thousands of sub-nanoliter droplets, each containing a small number of DNA fragments, greatly reduces the competition among DNA fragments for primers and polymerase thereby greatly reducing amplification bias]
3-Indoxylsulfate measurement	EFO_0010985	[Quantification of 3-Indoxylsulfate in a sample.]
intestinal cancer	EFO_0007330	[A malignant neoplasm involving the intestine]
intestinal neoplasm	MONDO_0021118	[A benign or malignant neoplasm involving the small or large intestine.]
EpiRADSeq	EFO_0009997	[Double digest restriction-site associated DNA marker generation with a methylation-sensitive restriction enzyme ]