Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Alzheimer's disease biomarker measurement	EFO_0006514	[Alzheimer's disease biomarkers are used as indicators for Alzheimer's disease screening and as predictors for therapeutic responses and prognoses in Alzheimer patients]
Alzheimer disease	MONDO_0004975	[A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.]
diacylglycerol 34:1 measurement	EFO_0010352	[The quantification of diacylglycerol 34:1 levels in a sample.]
brain injury	MONDO_0043510	[Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.]
nervous system injury	EFO_0009490	[Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures., Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. [ MESH ]]
obsolete_spinocerebellar ataxia type 34	Orphanet_1955
cholesteryl ester 22:6 measurement	EFO_0010350	[The quantification of cholesteryl ester 22:6 levels in a sample.]
obsolete_erythromelalgia	Orphanet_1956
obsolete_congenital lethal erythroderma	Orphanet_1954
Epilepsy telangiectasia	Orphanet_1951
Rare genetic intellectual disability with developmental anomaly	Orphanet_183763
Rare genetic epilepsy	Orphanet_183512
obsolete_pacman dysplasia	Orphanet_1952
Venous thrombosis	HP_0004936	[Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.]
Abnormal thrombosis	HP_0001977	[Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).]
3-carboxy-4-methyl-5-propyl-2-furanpropanoate	CHEBI_82986	[A dicarboxylic acid monoanion that is the conjugate base of 2-(2-carboxyethyl)-4-methyl-5-propylfuran-3-carboxylic acid.]
glycodeoxycholate	CHEBI_82982	[A N-acylglycinate that is the conjugate base of glycodeoxycholic acid., A N-acylglycinate that is the conjugate base of glycodeoxycholic acid.]
fetal lower urinary tract obstruction	MONDO_0018559
kidney disease	EFO_0003086	[A disease involving the kidney., A disease affecting the kidneys]
urogenital tract malformation	MONDO_0019356