Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_progressive familial intrahepatic cholestasis type 2	Orphanet_79304
orthostatic intolerance	EFO_1000645	[A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart., A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart .]
heart conduction disease	MONDO_0000992	[A disease that has its basis in the disruption of the heart's electrical conduction system.]
primary orthostatic hypotension	MONDO_0015914	[Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.]
Congenital bile acid synthesis defect type 2	Orphanet_79303	[Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.]
papillary carcinoma	EFO_1000646	[A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.]
papillary epithelial neoplasm	MONDO_0021096
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Orphanet_309515
childhood cancer	EFO_1000654	[A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).]
childhood neoplasm	MONDO_0021079	[A benign or malignant neoplasm arising during childhood.]
acute pancreatitis	EFO_1000652	[a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process., An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.]
pancreatitis	EFO_0000278	[Inflammation of the pancreas., INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.]
acute disease	MONDO_0020683	[Disease having a short and relatively severe course.]
Acute	HP_0011009	[Sudden appearance of disease manifestations over a short period of time.]
sarcopenia	EFO_1000653	[Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.]
estrogen-receptor negative breast cancer	EFO_1000650	[A subtype of breast cancer that is estrogen-receptor negative]
recalcitrant atopic dermatitis	EFO_1000651	[moderate to severe atopic dermatitis with allergic sensitisation, Moderate to severe atopic dermatitis with allergic sensitisation.]
atopic eczema	EFO_0000274	[A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.]
loess transformation	OBI_0200071	[A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves.]
normalization data transformation	OBI_0200169	[A normalization data transformation is a data transformation that has objective normalization.]