Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
myristate 14:0-to-myristoleate 14:1n5 ratio	EFO_0021419	[Quantification of the ratio of myristate 14:0 to myristoleate 14:1n5 in a sample.]
Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Orphanet_370943
4-acetamidobutanoate-to-N1-methyladenosine ratio	EFO_0021418	[Quantification of the ratio of 4-acetamidobutanoate to N1-methyladenosine in a sample.]
Nephrosis - deafness - urinary tract - digital malformations	Orphanet_2669
Nephropathy-deafness-hyperparathyroidism syndrome	Orphanet_2668
response to mepolizumab	EFO_0008459	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of mepolizumab stimulus. Mepolizumab is a humanized monoclonal antibody used for the treatment of severe eosinophilic asthma.]
X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio	EFO_0021415	[Quantification of the ratio of X-04499--3,4-dihydroxybutyrate to C-glycosyltryptophan in a sample.]
Adult familial nephronophthisis - spastic quadriparesia	Orphanet_2666
valine-to-proline ratio	EFO_0021414	[Quantification of the ratio of valine to proline in a sample.]
X-12798-to-phenylalanine ratio	EFO_0021417	[Quantification of the ratio of X-12798 to phenylalanine in a sample.]
C-glycosyltryptophan-to-succinylcarnitine ratio	EFO_0021416	[Quantification of the ratio of C-glycosyltryptophan to succinylcarnitine in a sample.]
DHEA-S-to-4-androsten-3beta,17beta-diol disulfate 2 ratio	EFO_0021411	[Quantification of the ratio of DHEA-S to 4-androsten-3beta,17beta-diol disulfate 2 in a sample.]
hexanoylcarnitine-to-octanoylcarnitine ratio	EFO_0021410	[Quantification of the ratio of hexanoylcarnitine to octanoylcarnitine in a sample.]
androsterone sulfate-to-4-androsten-3beta,17beta-diol disulfate 2 ratio	EFO_0021413	[Quantification of the ratio of androsterone sulfate to 4-androsten-3beta,17beta-diol disulfate 2 in a sample.]
X-11444-to-X-11470 ratio	EFO_0021412	[Quantification of the ratio of X-11444 to X-11470 in a sample.]
obsolete_CADDS	Orphanet_369942
obsolete_hypochondroplasia	Orphanet_429
obsolete_autosomal dominant hypocalcemia	Orphanet_428
obsolete_Cyprus facial-neuromusculoskeletal syndrome	Orphanet_2674	[Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic, malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.]
obsolete_familial hypoaldosteronism	Orphanet_427