Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
dipetalonemiasis	EFO_0007237	[A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis., A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.]
Isolated CoQ-cytochrome C reductase deficiency	Orphanet_1460
HG03457	EFO_0010882	[Lymphoblastoid cell line from a Mende male from Sierra Leone]
diffuse idiopathic skeletal hyperostosis	EFO_0007236	[This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms., A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.]
idiopathic disease	MONDO_0700007	[A disease or disorder for which the cause is of uncertain or unknown.]
hyperostosis	MONDO_0002185	[Excessive thickening of bone.]
response to oxcarbazepine	EFO_0009893	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a oxcarbazepine stimulus, an anti-epileptic drug.]
response to anticonvulsant	GO_0036277	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity.]
Dictyocaulus infectious disease	EFO_0007235	[Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation., A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus.]
trichostrongyloidiasis	EFO_0007522	[A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea., Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.]
helminthiasis, animal	MONDO_0025082	[Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.]
carbamazepine-induced hyponatremia	EFO_0009894	[A type of hyponatremia related to ingestion of carbamazepine.]
Hyponatremia	HP_0002902	[An abnormally decreased sodium concentration in the blood.]
oxcarbazepine-induced hyponatremia	EFO_0009895	[A type of hyponatremia related to ingestion of the carbamazepine keto-analogue oxcarbazepine.]
HG03439	EFO_0010880	[Lymphoblastoid cell line from a Mende male from Sierra Leone]
dicrocoeliasis	EFO_0007234	[A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain., Infection with flukes of the genus Dicrocoelium.]
dirofilariasis	EFO_0007239	[Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans., A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.]
Arthralgia	HP_0002829	[Joint pain.]
diphyllobothriasis	EFO_0007238	[A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia., Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).]
obsolete_Coffin-Siris syndrome	Orphanet_1465	[Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.]