Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Glycogen storage disease due to phosphoglucomutase deficiency	Orphanet_711	[Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise.]
GRIL-seq	EFO_0008754	[Global small non-coding RNA target identification by ligation and sequencing (GRIL-seq)]
obsolete_Pfeiffer syndrome	Orphanet_710	[Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations.]
GRIP	EFO_0008755	[Gamma-retrovirus integration profiling (GRIP)]
3-Indolepropionic acid to Kinurenine ratio	EFO_0021719	[Quantification of the ratio of 3-Indolepropionic acid to Kinurenine ratio in a sample.]
obsolete_X-linked distal hereditary motor neuropathy	Orphanet_404538
G4 ChIP-seq	EFO_0008750	[Antibody-based G4 chromatin immunoprecipitation and high-throughput sequencing]
G4-seq	EFO_0008751	[Determine the location of potential G-quadruplexes in DNA (G4-seq)]
3-Indolepropionic acid to L-Saccharopine ratio	EFO_0021716	[Quantification of the ratio of 3-Indolepropionic acid to L-Saccharopine ratio in a sample.]
L-Citrulline to 3-Indolepropionic acid ratio	EFO_0021715	[Quantification of the ratio of L-Citrulline to 3-Indolepropionic acid ratio in a sample.]
L-Asparagine Anhydrous to 3-Indolepropionic acid ratio	EFO_0021718	[Quantification of the ratio of L-Asparagine Anhydrous to 3-Indolepropionic acid ratio in a sample.]
3-Indolepropionic acid to 5-oxoproline ratio	EFO_0021717	[Quantification of the ratio of 3-Indolepropionic acid to 5-oxoproline ratio in a sample.]
GRO-CAP	EFO_0008756	[Global run-on protocol called GRO-cap, which captures TSSs for both stable and unstable transcripts]
3-Indolepropionic acid to LysoPC 16:1 ratio	EFO_0021712	[Quantification of the ratio of 3-Indolepropionic acid to LysoPC 16:1 ratio in a sample.]
gSELEX-Seq	EFO_0008757	[Genomic systematic evolution of ligands by exponential enrichment (gSELEX-Seq)]
SELEX-seq	EFO_0008918	[Systematic evolution of ligands by exponential enrichment (SELEX-seq).]
3-Indolepropionic acid to D-2-Aminobutyric acid ratio	EFO_0021711	[Quantification of the ratio of 3-Indolepropionic acid to D-2-Aminobutyric acid ratio in a sample.]
GT-seq	EFO_0008758	[Genotyping-in-Thousands by sequencing (GT-seq)]
3-Indolepropionic acid to Pipecolinic acid ratio	EFO_0021714	[Quantification of the ratio of 3-Indolepropionic acid to Pipecolinic acid ratio in a sample.]
GTI-Seq	EFO_0008759	[Ribo-Seq: Ribosome profiling Global translation initiation sequencing (GTI-Seq)]