Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
galactoside 34-L-fucosyltransferase measurement	EFO_0008136	[quantification of the amount of galactoside 34-L-fucosyltransferase in a sample]
galectin-3 measurement	EFO_0008137	[quantification of the amount of galectin-3 in a sample]
GDNF family receptor alpha-2 measurement	EFO_0008138	[quantification of the amount of GDNF family receptor alpha-2 in a sample]
glypican-5 measurement	EFO_0008139	[quantification of the amount of glypican-5 in a sample]
fibronectin fragment 4 measurement	EFO_0008132	[quantification of the amount of fibronectin Fragment 4 in a sample]
fibronectin measurement	EFO_0008133	[quantification of the amount of fibronectin in a sample]
ficolin-1 measurement	EFO_0008134	[quantification of the amount of ficolin-1 in a sample]
ficolin-2 measurement	EFO_0008135	[quantification of the amount of ficolin-2 in a sample]
ectodermal dysplasia, trichoodontoonychial type	MONDO_0007511	[Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.]
Clouston syndrome	MONDO_0007510	[Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.]
van der Woude syndrome	MONDO_0019508	[Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.]
Dental enamel hypoplasia	EFO_1001304	[Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth., An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors.]
linoleate	CHEBI_30245	[An octadecadienoate with cis- double bonds at the 9- and 12- positions; the conjugate base of linoleic acid.]
Lens subluxation	HP_0001132	[Partial dislocation of the lens of the eye.]
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	MONDO_0019506	[Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.]
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	MONDO_0019505	[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.]
extragonadal non-dysgerminomatous germ cell tumor	MONDO_0020539
endothelial cell-selective adhesion molecule measurement	EFO_0008120	[quantification of the amount of endothelial cell-selective adhesion molecule in a sample]
estrogen receptor measurement	EFO_0008125	[quantification of the amount of estrogen receptor in a sample]
extracellular matrix protein 1 measurement	EFO_0008126	[quantification of the amount of extracellular matrix protein 1 in a sample]