Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_bilateral striopallidodentate calcinosis	Orphanet_1980
lysophosphatidylethanolamine 18:2 measurement	EFO_0010369	[The quantification of lysophosphatidylethanolamine 18:2 levels in a sample.]
lysophosphatidylethanolamine 16:0 measurement	EFO_0010366	[The quantification of lysophosphatidylethanolamine 16:0 levels in a sample.]
hypophosphatasia	MONDO_0018570	[Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).]
developmental anomaly of metabolic origin	MONDO_0015327
lysophosphatidylethanolamine 18:0 measurement	EFO_0010367	[The quantification of lysophosphatidylethanolamine 18:0 levels in a sample.]
GM17119	CLO_0014942	[UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
184-hTERT	EFO_0009375	[Telomerase-immortalized human breast epithelial cell line.]
HMEC184	EFO_0001190
lysophosphatidylcholine 20:5 measurement	EFO_0010364	[The quantification of lysophosphatidylcholine 20:5 levels in a sample.]
GM17113	CLO_0014943	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24]
lysophosphatidylcholine 22:6 measurement	EFO_0010365	[The quantification of lysophosphatidylcholine 22:6 levels in a sample.]
lysophosphatidylcholine 20:3 measurement	EFO_0010362	[The quantification of lysophosphatidylcholine 20:3 levels in a sample.]
GM17114	CLO_0014945	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 8]
lysophosphatidylcholine 20:4 measurement	EFO_0010363	[The quantification of lysophosphatidylcholine 20:4 levels in a sample.]
lysophosphatidylcholine 18:1 measurement	EFO_0010360	[The quantification of lysophosphatidylcholine 18:1 levels in a sample.]
obsolete_femoral-facial syndrome	Orphanet_1988
lysophosphatidylcholine 18:2 measurement	EFO_0010361	[The quantification of lysophosphatidylcholine 18:2 levels in a sample.]
photoallergic dermatitis	MONDO_0006596	[A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.]
allergic contact dermatitis	EFO_1000668	[A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign., An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.]