Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17267	CLO_0013179	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete_subependymal nodular heterotopia	Orphanet_101030
IgG/IgA pemphigus	EFO_0008605	[IgG/IgA pemphigus is defined by the presence of IgG and IgA cell surface deposits upon direct immunofluorescence (DIF) and/or circulating IgG and IgA autoantibodies upon indirect immunofluorescence. Previous reports of patients with IgG/IgA pemphigus are sparse [ PMID:26566588 ]]
High pitched voice	HP_0001620	[An abnormal increase in the pitch (frequency) of the voice.]
Glycoursodeoxycholic acid measurement	EFO_0021600	[Quantification of the amount of Glycoursodeoxycholic acid in a sample.]
Breech presentation	HP_0001623	[A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.]
arachidonate	CHEBI_32395	[A long-chain fatty acid anion resulting from the removal of a proton from the carboxy group of arachidonic acid.]
obsolete_thyroid hypoplasia	Orphanet_95720
erucate	CHEBI_32393	[A unsaturated fatty acid anion that is the conjugate base of erucic acid, formed by deprotonation of the carboxylic acid group.]
gamma-linolenate	CHEBI_32391	[A linolenate that is the conjugate base of gamma-linolenic acid, arising from deprotonation of the carboxylic acid group.]
PacBio RS II	EFO_0008631	[The PacBio RS II is a high-throughput sequencing machine developed by PacBio. Its primary applications are whole genome sequencing of smaller organisms and targeted sequencing of DNA and RNA.]
ONT MinION	EFO_0008632	[The ONT MinION is a pocket-sized sequencing machine developed by Oxford Nanopore Technologies.]
ONT GridION X5	EFO_0008633	[The ONT GridION X5 is a sequencing machine developed by Oxford Nanopore Technologies.]
ONT PromethION	EFO_0008634	[The ONT PromethION is a high-throughput, high-sample number benchtop sequencing machine developed by Oxford Nanopore Technologies.]
Litopenaeus vannamei	NCBITaxon_6689
Penaeus monodon	NCBITaxon_6687
PacBio Sequel System	EFO_0008630	[The PacBio Sequel System is a high-throughput sequencing machine developed by PacBio. Its primary applications are rapid and cost-effective de novo genome assembly and structural variation analysis.]
2P-Seq	EFO_0008639	[Poly(A)-primed sequencing (2P-seq) to quantify usage of known poly(A) sites]
paraffin specimen	OBI_0000950	[a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin]
Illumina iSeq 100	EFO_0008635	[The Illumina iSeq 100 is a benchtop sequencing machine developed by Illumina. Its primary applications include small whole-genome sequencing, targeted sequencing of a set of genes or gene regions, gene expression analysis and 16S metagenomic sequencing.]