Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Myocardial Ischemia	EFO_1001375	[A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)., A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).]
Mus musculus subspecies	EFO_0003013
peeling skin syndrome 1	MONDO_0024548	[Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.]
isoxazole	CHEBI_35595
chronic mucus hypersecretion	EFO_0005673
ILSXISS123/TejJ	EFO_0003012
hippocampal sclerosis of aging	EFO_0005678	[age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus, Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus]
breast fibrocystic disease	EFO_0003014	[Fibrosis associated with cyst formation in the breast parenchyma.]
obsolete_conotruncal heart defect	EFO_0005679	[conotruncal and related malformations account for around a third of all congential heart defects and include a range of conditions including but not limited to tetralogy of Fallot, D-transposition of the great arteries, ventricular septal defects (conoventricular, posterior malalignment and conoseptal hypoplasia), double outlet right ventricle, aortic arch anomalies, truncus arteriosus, and interrupted aortic arch.]
Autoimmune Hepatitis	EFO_0005676	[Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.]
transitional cell carcinoma of kidney	EFO_0003017	[A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.]
renal pelvis carcinoma	EFO_0005582	[A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.]
renal pelvis/ureter urothelial carcinoma	MONDO_0020654	[A transitional cell carcinoma that arises from the renal pelvis and ureter.]
puberty onset measurement	EFO_0005677	[quantification of the onset of puberty in human males and females through a series of proxy measurements such as genital enlargement (males) or breast development (females). These characteristics are assessed based on pre-defined scales either through self-reporting or through assessment by a medical professional.]
puberty	EFO_0001382	[The process of sexual maturation mediated by the neuroendocrine system in mammals.]
collecting duct carcinoma	EFO_0003016	[A carcinoma that arises from epithelial cells of the collecting duct of renal tubule]
ILSXISS46/TejJ	EFO_0003019
ILSXISS28/TejJ	EFO_0003018
obsolete_hereditary xanthinuria	Orphanet_3467
coronary artery disease, autosomal dominant 2	MONDO_0012586	[Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.]