Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
carbon monoxide	CHEBI_17245	[A carbon oxide that has formula CO.]
interferon gamma measurement	EFO_0008165	[quantification of the amount of interferon gamma in a sample]
obsolete_interleukin 1 beta measurement	EFO_0008166	[quantification of the amount of interleukin 1 beta in a sample]
interleukin 1 Receptor accessory protein measurement	EFO_0008167	[quantification of the amount of interleukin 1 Receptor accessory protein in a sample]
interleukin 1 receptor-like 1 measurement	EFO_0008168	[quantification of the amount of interleukin 1 receptor-like 1 in a sample]
mono(2-ethylhexyl) phthalate	CHEBI_17243
multiple self-healing squamous epithelioma	MONDO_0007566	[Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.]
Ehlers-Danlos syndrome type 7B	MONDO_0020522
Ehlers-Danlos syndrome type 7A	MONDO_0020521
familial cylindromatosis	MONDO_0007565
Brooke-Spiegler syndrome	MONDO_0011512	[Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.]
glycylvaline measurement	EFO_0021129	[Quantification of the amount of glycylvaline in a sample.]
multiple epiphyseal dysplasia, Beighton type	MONDO_0007562	[Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.]
cycloleu-pro measurement	EFO_0021128	[Quantification of the amount of cycloleu-pro in a sample.]
multiple epiphyseal dysplasia type 1	MONDO_0007561	[Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.]
stachydrine measurement	EFO_0021169	[Quantification of the amount of stachydrine in a sample.]
saccharin measurement	EFO_0021168	[Quantification of the amount of saccharin in a sample.]
erythema palmare hereditarium	MONDO_0007570	[A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.]
N-2-furoylglycine measurement	EFO_0021165	[Quantification of the amount of N-2-furoylglycine in a sample.]
homostachydrine measurement	EFO_0021164	[Quantification of the amount of homostachydrine in a sample.]