Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
transvaginal ultrasound-guided oocyte retrieval	EFO_0700009	[A surgical technique used by medical professionals to extract mature eggs directly from an ovary with the guidance of ultrasound imaging.]
mcSCRB-seq	EFO_0030061	[A single-cell RNA barcoding and sequencing protocol with increased sensitivity through the addition of polyethylene glycol (PEG 8000). PEG 8000 increases the cDNA yield by reducing the effective reaction volume.]
Slide-seqV2	EFO_0030062	[More sensitive version of the Slide-seq method for transferring RNA from tissue sections onto a surface covered in DNA-barcoded beads with known positions, which differs from Slide-seq in the use of a monobase encoding scheme with sequencing by ligation using sequential interrogation by offset primer, and improved parameters for split-pool synthesis of barcoded beads.]
4-acetamidobutanoate	CHEBI_11951	[A monocarboxylic acid anion that is the conjugate base of 4-acetamidobutanoic acid, arising from deprotonation of the carboxy group.]
mCT-seq	EFO_0030060	[A method that can jointly capture cytosine DNA methylome (5mC) and transcriptome profiles from single cells/nuclei by partitioning RNA and DNA molecules through the incorporation of 5’-methyl-dCTP instead of dCTP during reverse transcription of RNA.]
compensatory emphysema	MONDO_0000924
interstitial emphysema	MONDO_0000923	[Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.]
methylation-specific microarray	EFO_0030076	[An oligonucleotide DNA microarray that employs specifically designed oligonucleotides to probe the methylation status of e.g. CpG and CpHpG sites. It may also be applied to derive additional information such as genomic copy number variations.]
SORT-seq	EFO_0030074	[A partially robotized version of the CEL-seq2 protocol that uses FACS to sort single cells into the wells of a 384-well cell-capture plate. Each well in the plate contains barcoded primers and other reagents. This sorting step makes it possible to analyze live single cells, or any other particular population of interest.]
cDNA microarray	EFO_0030075	[A DNA array that contains probes (usually many thousands of them) generated from the reverse transcription of messenger RNA and propagated in bacterial vectors. While the main application of cDNA microarrays is in the generation of transcriptomic profiles, they also can be used for genomic analyses such as copy number profiling experiments.]
skeletal defects, genital hypoplasia, and intellectual disability	MONDO_0012909
droplet-based single-cell RNA library preparation	EFO_0030078	[A single-cell RNA library construction method that is droplet-based.]
paracentesis	EFO_0030079	[A specimen-collecting procedure in which a needle or catheter is inserted into the peritoneal cavity to obtain ascitic fluid for diagnostic or therapeutic purposes. Ascitic fluid may be used to help determine the etiology of ascites, as well as to evaluate for infection or presence of cancer.]
inherited prekallikrein deficiency	MONDO_0012901	[An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.]
prekallikrein deficiency	MONDO_0044744	[A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.]
high-level copy number gain	EFO_0030072	[Assessment of high-level genomic copy number gain.]
copy number gain	EFO_0030070	[Assessment of genomic copy number gain.]
focal genome amplification	EFO_0030073	[Assessment of focal genome amplification.]
blindness - scoliosis - arachnodactyly syndrome	MONDO_0012907	[This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.]
low-level copy number gain	EFO_0030071	[Assessment of low-level genomic copy number gain.]