Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
response to paliperidone	EFO_0007925	[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 paliperidone stimulus. Paliperidone, also known as 9-hydroxyrisperidone, is a dopamine antagonist and 5-HT2A antagonist of the atypical antipsychotic class of medications.]
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	MONDO_0012739	[This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.]
tonsillectomy risk measurement	EFO_0007924	[Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect.]
CHGA cleavage product measurement	EFO_0007909	[quantification of the amount of chromogranin A cleavage product in a sample]
traffic air pollution measurement	EFO_0007908	[quantification of some aspect of air pollution through traffic, such as annual average NO2 exposure estimates derived using land use regression modeling]
obsolete_intermittent hydrarthrosis	Orphanet_329967
methadone dose measurement	EFO_0007907	[quantification of some aspect of methadone dosage]
synophrys measurement	EFO_0007906	[quantification of some aspect of unibrows, such as their presence or absence, or their severity]
lethal arthrogryposis-anterior horn cell disease syndrome	MONDO_0012750
episodic ataxia type 7	MONDO_0012755	[Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.]
proximal 16p11.2 microdeletion syndrome	MONDO_0012756	[A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.]
Abnormality of cardiovascular system electrophysiology	HP_0030956	[An anomaly of the electrical conduction physiology of the heart.]
Multiple skeletal anomalies	HP_0005775
lysinuric protein intolerance	MONDO_0009109	[Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.]
hyperdibasic aminoaciduria type 1	MONDO_0009108	[Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.]
conscientiousness measurement	EFO_0007912	[quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)]
obsolete_generalized juvenile polyposis/juvenile polyposis coli	Orphanet_329971
diastrophic dysplasia	MONDO_0009107	[Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).]
personality trait	EFO_0004365	[The characteristics in behavior that a certain person has.]
diastematomyelia	MONDO_0009106	[A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.]