Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
MCC-Seq	EFO_0008799	[MethylC-capture sequencing]
olfactory epithelium	UBERON_0001997	[A sensory epithelium inside the nasal cavity that is responsible for detecting odors[WP].]
obsolete_46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	Orphanet_753	[46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.]
MAINE-Seq	EFO_0008792	[MNase-assisted isolation of nucleosomes (MAINE-Seq).]
obsolete_46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	Orphanet_752
MALBAC	EFO_0008793	[Multiple annealing and looping-based amplification cycles (MALBAC)]
MARDI	EFO_0008794	[Mutation Analysis With Random DNA Identifiers (MARDI)]
obsolete_pseudoachondroplasia	Orphanet_750
MARIO	EFO_0008795	[Mapping RNA interactome in vivo (MARIO)]
3-Indolepropionic acid to S-Sulfo-L-cysteine ratio	EFO_0021759	[Quantification of the ratio of 3-Indolepropionic acid to S-Sulfo-L-cysteine ratio in a sample.]
D-Trehalose to 3-Indolepropionic acid ratio	EFO_0021756	[Quantification of the ratio of D-Trehalose to 3-Indolepropionic acid ratio in a sample.]
L-Proline to 3-Indolepropionic acid ratio	EFO_0021755	[Quantification of the ratio of L-Proline to 3-Indolepropionic acid ratio in a sample.]
3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio	EFO_0021758	[Quantification of the ratio of 3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio in a sample.]
3-Indolepropionic acid to Methylmalonic acid ratio	EFO_0021757	[Quantification of the ratio of 3-Indolepropionic acid to Methylmalonic acid ratio in a sample.]
3-Indolepropionic acid to Azelaic acid ratio	EFO_0021752	[Quantification of the ratio of 3-Indolepropionic acid to Azelaic acid ratio in a sample.]
3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio	EFO_0021751	[Quantification of the ratio of 3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio in a sample.]
Conotruncal defect	HP_0001710	[A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.]
Abnormal heart morphology	HP_0001627	[Any structural anomaly of the heart.]
3-Indolepropionic acid to Hypoxanthine ratio	EFO_0021754	[Quantification of the ratio of 3-Indolepropionic acid to Hypoxanthine ratio in a sample.]
Aspergillus versicolor	NCBITaxon_46472