Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
stearoylcarnitine measurement	EFO_0021045	[Quantification of the amount of stearoylcarnitine in a sample.]
hexanoylcarnitine measurement	EFO_0021040	[Quantification of the amount of hexanoylcarnitine in a sample.]
cathepsin S measurement	EFO_0008073	[quantification of the amount of cathepsin S in a sample]
spermatogenic failure 42	MONDO_0032896
cathepsin Z measurement	EFO_0008074	[quantification of the amount of cathepsin Z in a sample]
intellectual developmental disorder with hypotonia and behavioral abnormalities	MONDO_0032897
idiopathic anterior uveitis	MONDO_0017256
octanoylcarnitine measurement	EFO_0021042	[Quantification of the amount of octanoylcarnitine in a sample.]
cation-independent mannose-6-phosphate receptor measurement	EFO_0008075	[quantification of the amount of cation-independent mannose-6-phosphate receptor in a sample]
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	MONDO_0032894
Striae distensae	HP_0001065	[Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.]
CD109 antigen measurement	EFO_0008076	[quantification of the amount of CD109 antigen in a sample]
laurylcarnitine measurement	EFO_0021041	[Quantification of the amount of laurylcarnitine in a sample.]
idiopathic panuveitis	MONDO_0017258	[Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.]
developmental and epileptic encephalopathy, 83	MONDO_0032895
Staphylococcus aureus subsp. aureus N315	NCBITaxon_158879
structural brain anomalies with impaired intellectual development and craniosynostosis	MONDO_0032892
Staphylococcus aureus subsp. aureus Mu50	NCBITaxon_158878
caspase-3 measurement	EFO_0008070	[quantification of the amount of caspase-3 in a sample]
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	MONDO_0032893