Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
multiple births measurement	EFO_0009439	[Quantification of some aspect of multiple births, eg the number or proportion born to an individual.]
obsolete Dysautonomia	HP_0002459
(R)-2-hydroxy-4-methylpentanoate	CHEBI_55535	[The anion of (R)-2-hydroxy-4-methylpentanoic acid.]
obsolete_diazoxide-resistant focal hyperinsulinism	Orphanet_79298
ACPA-negative rheumatoid arthritis	EFO_0009460	[A subtype of rheumatoid arthritis defined by the absence of autoantibodies that are directed against citrullinated peptides and proteins.]
Nitrosomonas europaea ATCC 19718	NCBITaxon_228410
adnexal spiradenoma/cylindroma of a sweat gland	MONDO_0021812	[A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.]
obsolete_granuloma	EFO_0009462	[an inflammation found in many diseases, it is a collection of immune cells known as macrophages.A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents.]
obsolete_hyperinsulinism due to glucokinase deficiency	Orphanet_79299
3-methyladipic acid measurement	EFO_0010449	[Quantification of 3-methyladipic acid levels in a sample.]
Familial LCAT deficiency	Orphanet_79293	[Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.]
Rare constitutional hemolytic anemia	Orphanet_182043
LCAT deficiency	MONDO_0018999	[LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.]
3-hydroxyanthranilic acid measurement	EFO_0010447	[Quantification of 3-hydroxyanthranilic acid levels in a sample.]
3-hydroxyphenylacetic acid measurement	EFO_0010448	[Quantification of 3-hydroxyphenylacetic acid levels in a sample.]
response to anti-vascular endothelial growth factor drug	EFO_0009467	[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 anti-vascular endothelial growth factor antibodies. Intravitreal injection of anti VEGF antibodies is the primary treatment for neovascular (wet) macular degeneration.]
allantoin measurement	EFO_0010456	[Quantification of allantoin levels in a sample.]
jaw disease	EFO_0009468	[A disease affecting the jaw region, i.e. the part of the head that corresponds to the jaw skeleton, containing soft tissue, skeleton and teeth.]
Alpha ketoglutarate measurement	EFO_0010457	[Quantification of alpha ketoglutarate levels in a sample.]
Bartholin gland disease	EFO_0009469	[Disease that is located in Bartholin gland.]