Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
respiratory tract infectious disorder	MONDO_0024355	[Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.]
mycobacterial infectious disease	MONDO_0020590	[Infection due to organisms from the genus Mycobacteria.]
lung disease	EFO_0003818	[A disease involving the lung., Pathological processes involving any part of the LUNG.]
potassium measurement	EFO_0009283	[A quantitative measurement of the amount of potassium present in a sample.]
chloride measurement	EFO_0009284	[A quantitative measurement of the amount of chloride present in a sample.]
chloride	CHEBI_17996	[A halide anion formed when chlorine picks up an electron to form an an anion.]
fractional shortening	EFO_0009285	[A calculated measurement corresponding to the ratio or percent reduction in heart chamber diameter between end-systole and end-diastole.]
heart function measurement	EFO_0004311	[A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis]
heart	UBERON_0000948	[A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ.]
Poor motor coordination	HP_0002275
heart relative wall thickness	EFO_0009286	[A calculated measurement of heart wall geometry. It represents a measure of the wall thickness normalized to the size of the chamber lumen.]
choroidal thickness measurement	EFO_0009281	[Quantification of the thickness of the choroid, the vascular layer of the eye lying between the retina and the sclera.]
eye measurement	EFO_0004731	[Is a quantification of some eye structure or property of an eye structure, such as corneal thickness.]
eye	UBERON_0000970	[An organ that detects light.]
sodium measurement	EFO_0009282	[A quantitative measurement of the amount of sodium present in a sample.]
sodium	CHEBI_26708
Shukla-Vernon syndrome	EFO_0010278	[A X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations.]
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	MONDO_0031439
GIST-plus syndrome	EFO_0010279	[A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation.]
interventricular septum thickness	EFO_0009287	[A quantitative measurement of the thickness of an interventricular septum.]