Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CATCH-seq	EFO_0008678	[Capture of Associated Targets on CHromatin (CATCH)]
obsolete_short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	Orphanet_632
amygdala	UBERON_0001876	[Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM).]
CAP-seq	EFO_0008671	[CXXC affinity purification plus deep sequencing (CAP-seq)]
Non-acquired isolated growth hormone deficiency	Orphanet_631
Capp-Seq	EFO_0008672	[Cancer personalized profiling by deep sequencing (CAPP-Seq)]
CapSeq	EFO_0008673	[5’ anchored profiling of Pol II transcripts (CapSeq). Identifies pre-mRNAs, transspliced mRNAs, miRNAs, and noncoding RNAs]
Capture-HiC	EFO_0008674	[Capture Hi-C is a type of Hi-C assay in which a selection step is performed on ligated fragments in order to select for ligation products containing specific regions, often used to enrich for promoter regions.]
LysoPC 16:0 measurement	EFO_0021639	[Quantification of the amount of LysoPC 16:0 in a sample.]
LysoPC 14:0 measurement	EFO_0021638	[Quantification of the amount of LysoPC 14:0 in a sample.]
obsolete_pili torti	Orphanet_2889
Pierre Robin syndrome - faciodigital anomaly	Orphanet_2888
CEL-seq	EFO_0008679	[Cell expression by linear amplification and sequencing (CEL-Seq).]
L-Valine measurement	EFO_0021635	[Quantification of the amount of L-Valine in a sample.]
obsolete_TARP syndrome	Orphanet_2886
L-Tyrosine measurement	EFO_0021634	[Quantification of the amount of L-Tyrosine in a sample.]
Piebald trait - neurologic defects	Orphanet_2885
LysoPA 16:0 measurement	EFO_0021637	[Quantification of the amount of LysoPA 16:0 in a sample.]
obsolete_piebaldism	Orphanet_2884
Lauric acid measurement	EFO_0021636	[Quantification of the amount of Lauric acid / Dodecanoic acid (C12:0) in a sample.]