Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
glucocorticoid receptor gene expression measurement	EFO_0600079	[Quantification of glucocorticoid receptor gene expression.]
maternal uniparental disomy of chromosome 1	MONDO_0016651	[Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.]
2q31.1 microdeletion syndrome	MONDO_0016652	[2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.]
partial deletion of the long arm of chromosome 2	MONDO_0016901	[Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
2q33.1 microdeletion syndrome	MONDO_0016653	[2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.]
stimulant use measurement	EFO_0600076	[Quantification of some aspect of stimulant use, for instance in the treatment of ADHD.]
response to stimulant therapy	EFO_0600075	[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 stimulant such as used in the treatment of ADHD.]
Achilles tendon injury	EFO_0600078	[Any injury to the Achilles tendon, including bursitis, tendinitis, rupture or degeneration.]
cardiac troponin I change measurement	EFO_0600077	[Quantification of the change in cardiac troponin I in an individual over time, typically measured in blood.]
cardiac troponin I measurement	EFO_0010071	[Quantification of cardiac troponin I, typically measured in blood. Cardiac troponin I measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction.]
obsolete_disorder of carbohydrate absorption and transport	Orphanet_309001
human polyomavirus 6 seropositivity	EFO_0600072	[The result of a measurement of circulating human polyomavirus 6-specific antibodies.]
blood glutathione peroxidase measurement	EFO_0600071	[Quantification of glutathione peroxidase in a sample.]
anti-human polyomavirus 6 antibody measurement	EFO_0600074	[Quantification of one or more antibodies to the human polyomavirus 6, typically in serum.]
anti-WU polyomavirus antibody measurement	EFO_0600073	[Quantification of one or more antibodies to the WU polyomavirus, typically in serum.]
Maylandia	NCBITaxon_143623
lymphangioma	MONDO_0002013	[A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.]
lymphatic vessel neoplasm	MONDO_0036870	[A benign or malignant neoplasm arising from the lymphatic vessels.]
mitochondrial encephalomyopathy	MONDO_0004675	[A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)]
interleukin-6 gene expression measurement	EFO_0600070	[Quantification of the expression of IL-6 gene, encoding interleukin-6.]