Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
bronchoscopic microsampling	EFO_0030036	[A biopsy in which a device consisting of a wire with a polyester probe at the tip is used to collect bronchial epithelial lining fluid with bronchoscopy.]
T cell activation assay	EFO_0030037	[An assay in which T cells are incubated with a culture media containing an activator agent (such as Dynabeads Human T-Activator CD3/CD28), mimicking the natural activation and expansion process.]
shRNA-seq	EFO_0030034	[Amplicon sequencing of shRNAs from RNAi pooled genetic screens. shRNA constructs are integrated into the cell genome, so sequencing is done on genomic DNA.]
cancer cell line sample	EFO_0030035	[A neoplastic sample derived from a cancer cell line.]
insect tracheal primordium	UBERON_6005037	[Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16.]
glutarate(1-)	CHEBI_35907	[A dicarboxylic acid monoanion that is the conjugate base of glutaric acid.]
obsolete_gastroduodenal malformation	Orphanet_97944
obsolete_global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome	Orphanet_488613	[A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD55 patients suffer from seizures appearing during the first years of life.]
obsolete_intestinal malformation	Orphanet_97945
clinical data	EFO_0030083	[A data set containing clinical information.]
data set	IAO_0000100	[A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit.]
HLA typing by NGS	EFO_0030081	[A method for identification of HLA antigen polymorphisms using a high-throughput sequencing platform.]
polygenic risk score	EFO_0030082	[An estimate of an individual’s genetic risk for some traits, obtained by aggregating and quantifying the effect of many common variants in the genome (usually defined as minor allele frequency ≥1%), each of which can have a small effect on a person’s genetic risk for a given disease or condition.]
agenesis of the corpus callosum with peripheral neuropathy	MONDO_0000902	[Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.]
Colletotrichum graminicola	NCBITaxon_31870	[Colletotrichum graminicola (teleomorph Glomerella graminicola) is a filamentous ascomycete that causes anthracnose disease of maize.]
myoclonus-dystonia syndrome	MONDO_0000903	[Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.]
PhenoCycler	EFO_0700002	[An automated fluidics system that uses oligonucleotide conjugated antibodies for tissue staining, followed by iterative cycles of applying fluorophore-conjugated reporter oligonucletides and gentle washing to generate multiplexed imaging data.]
spatial proteomics	EFO_0700000	[An assay that allows for visualization and quantification of proteins or associated antibodies used for evaluating in situ protein spatial distribution.]
BD Rhapsody Whole Transcriptome Analysis	EFO_0700003	[A BD Biosciences-based technology that sequences mRNA from the 3' end in an unbiased manner.]
duodenum cancer	MONDO_0000920	[A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.]