Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Disease associated with non-acquired combined pituitary hormone deficiency	Orphanet_95495
response to dietary selenium supplementation	EFO_0600021	[Physiological response of an organism to being given selenium as a dietary supplement.]
selenium	CHEBI_27568	[A chalcogen that has formula Se.]
diplegia of upper limb	MONDO_0004618
time to remission of COVID-19 symptoms	EFO_0600020	[Quantification of time to remission of COVID-19 symptoms.]
COVID-19 symptoms measurement	EFO_0600019	[Quantification of some aspect of COVID-19 symptoms, such as severity or time to remission.]
obsolete_primary immunodeficiency due to a defect in adaptive immunity	Orphanet_179006
recurrent hypersomnia	MONDO_0004617	[Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)]
obsolete_Niemann-Pick disease type A	Orphanet_77292	[Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.]
response to immune checkpoint inhibitor	EFO_0600023	[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 immune checkpoint inhibitor stimulus such as Ipilimumab and Anti-PD-1/PD-L1 agents.]
obsolete_Niemann-Pick disease type B	Orphanet_77293	[Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea]
response to gamma-aminobutyric acid receptor agonists	EFO_0600022	[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 gamma-aminobutyric acid receptor agonist.]
gamma-aminobutyric acid	CHEBI_16865	[A gamma-amino acid that is butanoic acid with the amino substituent located at C-4.]
duodenitis	MONDO_0004627	[Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.]
obsolete_pancreatic triacylglycerol lipase deficiency	Orphanet_309031
Abnormality of refraction	HP_0000539	[An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.]
migraine without aura	MONDO_0100431	[A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.]
migraine disorder	MONDO_0005277	[A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.]
obsolete Sparse and thin eyebrow	HP_0000535
autosomal recessive ataxia due to PEX10 deficiency	MONDO_0016614