Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
bulimia nervosa	EFO_0005204	[An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING., A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.]
loneliness measurement	EFO_0007865	[Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ).]
tyrosine-protein kinase lyn measurement	EFO_0020827	[The determination of the amount of tyrosine-protein kinase LYN in a sample]
tyrosine-protein kinase CSK measurement	EFO_0020820	[The determination of the amount of tyrosine-protein kinase CSK in a sample]
tyrosine-protein kinase FER measurement	EFO_0020821	[The determination of the amount of tyrosine-protein kinase FER in a sample]
Brachydactyly - preaxial hallux varus	Orphanet_1278
tyrosine-protein kinase FGR measurement	EFO_0020822	[The determination of the amount of tyrosine-protein kinase FGR in a sample]
glomerular filtration rate	EFO_0005208	[measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test]
tyrosine-protein kinase FYN measurement	EFO_0020823	[The determination of the amount of tyrosine-protein kinase FYN in a sample]
neonatal severe primary hyperparathyroidism	MONDO_0009397	[Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.]
phosphoribosylpyrophosphate synthetase superactivity	MONDO_0010395	[Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).]
severe neonatal-onset encephalopathy with microcephaly	MONDO_0010397	[An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.]
chromosome Xp21 deletion syndrome	MONDO_0010399
ocular albinism with late-onset sensorineural deafness	MONDO_0010390	[Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.]
ocular albinism	MONDO_0017304	[Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.]
colonic cancer cell line	BTO_0000797
glycogen storage disease due to phosphoglycerate kinase 1 deficiency	MONDO_0010392	[Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.]
aleurone layer	PO_0005360	[A portion of plant tissue that is the outermost layer of endosperm in a seed, its cells being characterized by presence of protein bodies containing seed storage proteins.]
tumor-associated calcium signal transducer 2 measurement	EFO_0020817	[The determination of the amount of tumor-associated calcium signal transducer 2 in a sample]
response to mercaptopurine	EFO_0007853	[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 treatment with mercaptopurine]