Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Severe failure to thrive	HP_0001525
anti-centromere-antibody-positive systemic scleroderma	EFO_0008536	[A sub-type of systemic scleroderma characterised by the presence of antibodies to centromere proteins]
anti-topoisomerase-I-antibody-positive systemic scleroderma	EFO_0008537	[A sub-type of systemic scleroderma characterised by the presence of antibodies to topoisomerase-1 protein]
helping behavior measurement	EFO_0008538	[Quantification of some aspect of helping behavior, for example helping others without being paid. Helping behavior is an example of prosocial behavior.]
helping behaviour	EFO_0008540	[Some aspect of helping behavior, for example helping others without being paid. Helping behavior is an example of prosocial behavior.]
vitamin D dietary intake measurement	EFO_0008539	[Quantification of dietary vitamin D intake.]
Vitamin D	CHEBI_27300	[Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body.]
glycochenodeoxycholate 7-sulfate(2-)	CHEBI_58877	[A steroid sulfate oxoanion obtained by deprotonation of the carboxylic acid and sulfate functions of glycochenodeoxycholic acid 7-sulfate.]
hyodeoxycholate	CHEBI_58875	[A bile acid anion that is the conjugate base of hyodeoxycholic acid.]
obsolete_partial duplication of the long arm of chromosome 19	Orphanet_262986
Leprechaunism	Orphanet_508	[Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.]
obsolete_Leigh syndrome	Orphanet_506
obsolete_Graham Little-Piccardi-Lassueur syndrome	Orphanet_505	[Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.]
Autosomal dominant Larsen syndrome	Orphanet_503	[Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.]
secondary progressive multiple sclerosis	EFO_0008522	[Secondary progressive multiple sclerosis is the form of the multiple sclerosis in which an initial relapsing-remitting phase is followed by a progressive phase – defined as an accumulation of disability regardless of relapses, with or without persistence of superimposed relapses., A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.]
Langer-Giedion syndrome	Orphanet_502
sessile serrated polyp	EFO_0008523	[A sessile serrated polyp is a serrated polyp that demonstrates abnormal cellular proliferation characterized by a proximally displaced proliferative zone, epithelial serrations, and characteristic distorted basilar crypt architecture with crypt dilation, branching, and lateral growth along the muscularis mucosa.]
obsolete_Lafora disease	Orphanet_501
obsolete_LEOPARD syndrome	Orphanet_500
primary progressive multiple sclerosis	EFO_0008520	[A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous., Primary progressive multiple sclerosis is the form of the multiple sclerosis in which clinical disability progression occurs continuously without remissions.]