Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
optic nerve disorder	MONDO_0002135	[A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).]
neuropathy	EFO_0004149	[A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness.]
anterior cerebral artery infarction	EFO_1000807	[Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body., NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.]
cerebral infarction	MONDO_0002679	[An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.]
obsolete_familial Dupuytren contracture	Orphanet_79142
anterior compartment syndrome	EFO_1000808	[Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION., Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.]
compartment syndrome	MONDO_0004001	[Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.]
muscular disease	EFO_0002970	[Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle., Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle., Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE., A muscular disease in which the muscle fibers do not function resulting in muscular weakness.]
obsolete_hereditary painful callosities	Orphanet_79141
obsolete_congenital myopathy with internal nuclei and atypical cores	Orphanet_319160
obsolete_frontotemporal dementia with motor neuron disease	Orphanet_275872
aortitis	EFO_1000816	[Inflammation of the wall of the AORTA., Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.]
aortic disease	EFO_0005775	[An artery disease that is characterized by degeneration of the cells composing the aortic wall., Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)]
vasculitis	EFO_0006803	[Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease., A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. ]
inflammatory response	GO_0006954	[The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.]
apparent mineralocorticoid excess syndrome	EFO_1000817	[A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS., An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.]
syndromic dyslipidemia	MONDO_0015905	[A inherited lipid metabolism disorder that is part of a larger syndrome.]
steroid inherited metabolic disorder	EFO_0005590	[A lipid metabolism disorder that involves defects in steroid metabolism., Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.]
anthracosis	EFO_1000814	[A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners., A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers.]
aortic valve prolapse	EFO_1000815	[The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation., The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.]