Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Blount disease	Orphanet_2768
obsolete_carpotarsal osteochondromatosis	Orphanet_2767
linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio	EFO_0021519	[Quantification of the ratio of linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio in a sample.]
Vancomycin-Resistant Staphylococcus Aureus Infection	EFO_0008558	[A bacterial infection that is caused by Staphylococcus aureus and is resistant to vancomycin treatment.]
acetylcarnitine-to-hexanoylcarnitine ratio	EFO_0021514	[Quantification of the ratio of acetylcarnitine-to-hexanoylcarnitine ratio in a sample.]
3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio	EFO_0021513	[Quantification of the ratio of 3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio in a sample.]
Geospiza scandens	NCBITaxon_48886
Geospiza magnirostris	NCBITaxon_48885
obsolete_osteocraniostenosis	Orphanet_2763
androsterone sulfate-to-epiandrosterone sulfate ratio	EFO_0021515	[Quantification of the ratio of androsterone sulfate-to-epiandrosterone sulfate ratio in a sample.]
linoleate 18:2n6 measurement	EFO_0021510	[Quantification of the amount of linoleate 18:2n6 measurement in a sample.]
1,7-dimethylurate measurement	EFO_0021512	[Quantification of the amount of 1,7-dimethylurate measurement in a sample.]
phenyllactate measurement	EFO_0021511	[Quantification of the amount of phenyllactate measurement in a sample.]
X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction	Orphanet_83648
obsolete_Roch-Leri mesosomatous lipomatosis	Orphanet_529	[Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.]
obsolete_Berardinelli-Seip congenital lipodystrophy	Orphanet_528
Osteogenesis imperfecta - retinopathy - seizures - intellectual disability	Orphanet_2773
obsolete_Liddle syndrome	Orphanet_526	[Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.]
c3d:C3 ratio	EFO_0008543	[Quantification of the ratio of complement C3d to C3 in a blood sample. This measure is a biomarker for systemic complement activation.]
S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys	CHEBI_46889	[A diacyl lipopeptide that has formula C65H126N10O12S.]