Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
frontal lobe	UBERON_0016525	[Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border.]
intellectual disability, autosomal dominant 48	EFO_0009156	[A highly variable phenotype with global developmental delay and moderate to severe intellectual disability; this can include poor or absent speech, delayed or impaired walking, poor feeding, hypotonia, seizures and behavioral problems, dysmorphic facial features and abnormal, but varied, brain imaging.]
susceptibility to malaria	EFO_0009157	[Susceptibility to the mosquito-borne hematoprotozoan parasites from the Plasmodium genus.]
same-sex sexual behavior	EFO_0010142	[Same-sex sexual behaviour is a process by which humans demonstrate and/or express sexuality with individuals of same sex.]
sexual behavior	EFO_0010141	[Sexual behaviour is a process by which humans and other animals demonstrate and/or express sexuality.]
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	EFO_0009158	[Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).]
chronic mountain sickness	EFO_0010143	[A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.]
opioid overdose severity measurement	EFO_0010140	[Quantification of the frequency and severity of overdoses as a result of opioid drug use in a person's lifetime.]
opioid analgesic	CHEBI_35482	[A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood.]
opioid dependence	EFO_0005611	[Disorders related or resulting from abuse or mis-use of opioids., Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium]
Vitis aestivalis	NCBITaxon_3605
regulation of response to stimulus	GO_0048583	[Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is 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.]
pharyngeal endoderm	ZFA_0001104
heart rate response to exercise	EFO_0009184	[Quantification of heart rate during exercise.]
heart rate	EFO_0004326	[The number of times the HEART VENTRICLES contract per unit of time, usually per minute.]
qualitative or quantitative defects of alphaB-cristallin	MONDO_0016188
qualitative or quantitative defects of myofibrillar proteins	MONDO_0016186
heart rate response to recovery post exercise	EFO_0009185	[Quantification of heart rate during a recovery period following exercise.]
qualitative or quantitative defects of filamin C	MONDO_0016189
platelet larger cell ratio	EFO_0009186	[Indicator of larger (> 12 fL) circulating platelets (percentage).]