Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
corpus callosum	UBERON_0002336	[White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM).]
N-acylethanolamine measurement	EFO_0600028	[Quantification of the levels of N-acylethanolamine in a sample.]
N-acylethanolamine	CHEBI_52640
acute neonatal citrullinemia type I	MONDO_0016600	[Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.]
adult-onset citrullinemia type I	MONDO_0016601	[Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.]
aortic vascular smooth muscle cell calcification measurement	EFO_0600025	[Quantification of the calcification of vascular smooth muscle cells derived from the aorta.]
aortic measurement	EFO_0020865	[Measurement of some parts of the aorta, including ascending aorta distensibility and area.]
vascular smooth muscle cell	BTO_0004578
obsolete_odontoleukodystrophy	Orphanet_77295
response to tofacitinib	EFO_0600024	[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 stimulus with tofacitinib.]
ulcerative colitis	EFO_0000729	[Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN., An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.]
obsolete_Morgagni-Stewart-Morel syndrome	Orphanet_77296
hemoglobin change measurement	EFO_0600027	[Quantification of the change in hemoglobin levels in an individual over time, eg over the course of several years after regular blood donation.]
obsolete_Majeed syndrome	Orphanet_77297
obsolete_disorder of lipid absorption and transport	Orphanet_309028
aortic vascular smooth muscle cell proliferation measurement	EFO_0600026	[Quantification of the multiplication or reproduction of vascular smooth muscle cells derived from the aorta.]
Lower limb pain	HP_0012514	[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.]
Limb pain	HP_0009763	[Chronic pain in the limbs with no clear focal etiology.]
Anophthalmia/microphthalmia - esophageal atresia	Orphanet_77298	[Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.]
Genetic syndromic esophageal malformation	Orphanet_371445