Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
angiostatin measurement	EFO_0008024	[quantification of the amount of angiostatin in a sample]
angiotensinogen measurement	EFO_0008025	[quantification of the amount of angiotensinogen in a sample]
Escherichia coli O157:H7 str. Sakai	NCBITaxon_386585
erythrose measurement	EFO_0021026	[Quantification of the amount of erythrose in a sample.]
erythronate measurement	EFO_0021025	[Quantification of the amount of erythronate in a sample.]
1,6-anhydroglucose measurement	EFO_0021028	[Quantification of the amount of 1,6-anhydroglucose in a sample.]
mannitol measurement	EFO_0021027	[Quantification of the amount of mannitol in a sample.]
4-methyl-2-oxopentanoate measurement	EFO_0021022	[Quantification of the amount of 4-methyl-2-oxopentanoate in a sample.]
hereditary sensorimotor neuropathy with hyperelastic skin	MONDO_0017237
3-methyl-2-oxovalerate measurement	EFO_0021021	[Quantification of the amount of 3-methyl-2-oxovalerate in a sample.]
distal monosomy 20q	MONDO_0019899
hemoglobinopathy Toms River	MONDO_0017238
cyanosis, transient neonatal	MONDO_0013511
levulinate 4-oxovalerate measurement	EFO_0021024	[Quantification of the amount of levulinate 4-oxovalerate in a sample.]
familial progressive hyper- and hypopigmentation	MONDO_0017239	[Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.]
hyperpigmentation with or without hypopigmentation, familial progressive	MONDO_0007771
isobutyrylcarnitine measurement	EFO_0021023	[Quantification of the amount of isobutyrylcarnitine in a sample.]
C-C motif chemokine 3 measurement	EFO_0008051	[quantification of the amount of C-C motif chemokine 3 in a sample]
Kleefstra syndrome due to 9q34 microdeletion	MONDO_0019896
Kleefstra syndrome 1	MONDO_0027407	[An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.]