Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_PHAVER syndrome	Orphanet_2876	[Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.]
cholesteryl ester 24:5 measurement	EFO_0021448	[Quantification of cholesteryl ester 24:5 in a sample.]
obsolete_phakomatosis pigmentovascularis	Orphanet_2875
cholesteryl ester 24:4 measurement	EFO_0021447	[Quantification of cholesteryl ester 24:4 in a sample.]
obsolete_phakomatosis pigmentokeratotica	Orphanet_2874
obsolete_partial trisomy of the long arm of chromosome 9	Orphanet_262905
cholesteryl ester 24:6 measurement	EFO_0021449	[Quantification of cholesteryl ester 24:6 in a sample.]
urinary 6‑hydroxymelatonin sulfate to creatinine ratio	EFO_0021488	[Quantification of the ratio of 6‑hydroxymelatonin sulfate to creatinine in a urine sample.]
bile reflux	EFO_1000838	[Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS., Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.]
biliary tract disease	EFO_0009534	[A disease involving the biliary tree.]
bladder calculus	EFO_1000839	[A concretion in the urinary bladder., Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths.]
bladder disease	EFO_1000018	[A disease involving the urinary bladder., A disorder affecting the urinary bladder]
lower urinary tract calculus	MONDO_0004828	[A urolithiasis that involves the lower urinary tract.]
benign monoclonal gammopathy	EFO_1000836	[Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia.]
monoclonal gammopathy	EFO_0000203	[A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine., A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.]
beriberi	EFO_1000837	[A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed), Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.]
vitamin B deficiency	MONDO_0042976	[A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.]
Wernicke-Korsakoff syndrome	EFO_1001242	[Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed., An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)]
basophil adenoma	EFO_1000834	[An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.]
central nervous system hematopoietic neoplasm	MONDO_0003641	[A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.]