Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
liver iron measurement	EFO_0010056	[Quantification of the amount of iron in the liver.]
iron biomarker measurement	EFO_0004461	[An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism]
combined partial 17-alpha-hydroxylase/17,20-lyase deficiency	EFO_0009067	[Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity. []
vascular cell adhesion molecule-1 measurement	EFO_0010057	[Quantification of the amount of soluble vascular cell adhesion molecule-1 in a sample]
adhesion molecule measurement	EFO_0004522	[A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events.]
dicer1 syndrome	EFO_0009068	[A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter.]
pleuropulmonary blastoma	MONDO_0011014	[A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.]
hepatic methionine adenosyltransferase deficiency	EFO_0009069	[A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.]
response to mycophenolic acid	EFO_0010054	[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 a mycophenolic acid stimulus.]
response to immunosuppressant	EFO_0010051	[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 an immunosuppressive drug stimulus. Immunosuppressive drugs are a class of drugs that suppress, or reduce, the strength of the body's immune system, for example to make the body less likely to reject a transplanted organ.]
mycophenolate	CHEBI_62932	[(4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1,3-dihydro-2-benzofuran-5-yl)-4-methylhex-4-enoate, A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of mycophenolic acid.]
response to calcineurin inhibitor	EFO_0010055	[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 a calcineurin inhibitor stimulus.]
dysostosis with brachydactyly without extraskeletal manifestations	MONDO_0800093
response to tacrolimus	EFO_0010052	[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 a tacrolimus stimulus.]
tacrolimus hydrate	CHEBI_61057
response to cyclosporine	EFO_0010053	[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 a cyclosporine stimulus.]
cyclosporin A	CHEBI_4031
overgrowth or tall stature syndrome with skeletal involvement	MONDO_0800091
thyroglobulin measurement	EFO_0010050	[Quantification of the amount of the thyroglobulin in a sample.]
basaloid large cell lung carcinoma	MONDO_0004087	[A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.]