Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cortisone measurement	EFO_0021118	[Quantification of the amount of cortisone in a sample.]
androsterone sulfate measurement	EFO_0021117	[Quantification of the amount of androsterone sulfate in a sample.]
dehydroisoandrosterone sulfate DHEA-S measurement	EFO_0021119	[Quantification of the amount of dehydroisoandrosterone sulfate DHEA-S in a sample.]
4-androsten-3beta,17beta-diol disulfate 2 measurement	EFO_0021114	[Quantification of the amount of 4-androsten-3beta,17beta-diol disulfate 2 in a sample.]
4-androsten-3beta,17beta-diol disulfate 1 measurement	EFO_0021113	[Quantification of the amount of 4-androsten-3beta,17beta-diol disulfate 1 in a sample.]
7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca measurement	EFO_0021116	[Quantification of the amount of 7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca in a sample.]
5alpha-androstan-3beta,17beta-diol disulfate measurement	EFO_0021115	[Quantification of the amount of 5alpha-androstan-3beta,17beta-diol disulfate in a sample.]
1-palmitoylglycerol 1-monopalmitin measurement	EFO_0021110	[Quantification of the amount of 1-palmitoylglycerol 1-monopalmitin in a sample.]
tetrasomy X	MONDO_0019525	[Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).]
valerate measurement	EFO_0021112	[Quantification of the amount of valerate in a sample.]
1-stearoylglycerol 1-monostearin measurement	EFO_0021111	[Quantification of the amount of 1-stearoylglycerol 1-monostearin in a sample.]
recessive dystrophic epidermolysis bullosa-generalized other	MONDO_0019522	[Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.]
gp41 C34 peptide, HIV measurement	EFO_0008140	[quantification of the amount of gp41 C34 peptide, HIV in a sample]
centripetalis recessive dystrophic epidermolysis bullosa	MONDO_0019521	[Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.]
granulins measurement	EFO_0008141	[quantification of the amount of granulins in a sample]
infantile Bartter syndrome with sensorineural deafness	MONDO_0019524	[Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.]
granulocyte colony-stimulating factor measurement	EFO_0008142	[quantification of the amount of granulocyte colony-stimulating factor in a sample]
Alpha-1-antichymotrypsin deficiency	Orphanet_93594
obsolete_spinocerebellar ataxia type 30	Orphanet_211017
obsolete_nephropathy secondary to a storage or other metabolic disease	Orphanet_93593