Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
EC-seq	EFO_0008728	[Excision circle sequencing (EC-seq)]
END-seq	EFO_0008729	[DNA end resection and DSB discovery]
Droplet-CirSeq	EFO_0008723	[Ultra-precise detection of mutations by droplet-based amplification of circularized DNA]
DSB-seq	EFO_0008724	[Map DNA double-strand breaks]
Autosomal recessive dopa-responsive dystonia	Orphanet_101150	[Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy.]
DSBCapture	EFO_0008725	[Mapping of double-steand DNA breaks]
dsRNA-Seq	EFO_0008726	[Double-stranded RNA sequencing (dsRNA-Seq)]
Nasal congestion	HP_0001742	[Reduced ability to pass air through the nasal cavity often leading to mouth breathing.]
3-Indolepropionic acid to L-2-Aminobutyric acid ratio	EFO_0021721	[Quantification of the ratio of 3-Indolepropionic acid to L-2-Aminobutyric acid ratio in a sample.]
Splenomegaly	HP_0001744	[Abnormal increased size of the spleen.]
3-Indolepropionic acid to LysoPC 18:0 ratio	EFO_0021720	[Quantification of the ratio of 3-Indolepropionic acid to LysoPC 18:0 ratio in a sample.]
Mimulus guttatus	NCBITaxon_4155
obsolete_Isolated Pierre Robin syndrome	Orphanet_718
obsolete_phenylketonuria	Orphanet_716
obsolete_Glycogen storage disease due to muscle phosphorylase kinase deficiency	Orphanet_715	[Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.]
obsolete_hemolytic anemia due to diphosphoglycerate mutase deficiency	Orphanet_714
obsolete_glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Orphanet_713
GMUCT 1.0	EFO_0008752	[Genome-wide mapping of uncapped transcripts (GMUCT)]
obsolete_hemolytic anemia due to glucophosphate isomerase deficiency	Orphanet_712
GMUCT 2.0	EFO_0008753	[Genome-wide mapping of uncapped transcripts (GMUCT)]