Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_CINCA syndrome	Orphanet_1451	[Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.]
stromal cell of lamina propria of small intestine	EFO_0010895	[A stromal cell found in the lamina propria of the small intestine.]
dracunculiasis	EFO_0007241	[A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection., Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).]
Rhabditida infectious disease	EFO_0007468	[A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips., Infections with nematodes of the order rhabditida.]
hydrolysis collection protocol	EFO_0010892	[A protocol to remove zona pellucida of mammalian oocytes by hydrolysis with 0.012 M hydrochloric acid to obtain naked oocytes without contamination of granulosa cells.]
egg allergy	EFO_0007248	[A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.]
food allergy	EFO_1001890	[Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.]
echovirus infectious disease	EFO_0007247	[An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites., Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.]
echinostomiasis	EFO_0007246	[Infection by flukes of the genus Echinostoma., A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.]
HG03575	EFO_0010890	[Lymphoblastoid cell line from a Mende female from Sierra Leone]
scATAC-seq	EFO_0010891	[A method for detecting the accessible chromatin in individual cells by transposase-accessible chromatin sequencing assay.]
ATAC-seq	EFO_0007045	[Assay for transposase-accessible chromatin using sequencing (ATAC-seq), is a method based on direct in vitro transposition of sequencing adaptors into native chromatin, and is a rapid and sensitive method for integrative epigenomic analysis. ATAC-seq captures open chromatin sites using a simple two-step protocol.]
echinococcosis	EFO_0007245	[A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys., A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.]
Cestode infectious disease	MONDO_0042488	[Infections with true tapeworms of the helminth subclass Cestoda.]
Abnormality of the upper limb	HP_0002817	[An abnormality of the arm.]
C5a anaphylatoxin measurement	EFO_0020208	[The determination of the amount of C5a anaphylatoxin in a sample]
cadherin-1 measurement	EFO_0020209	[The determination of the amount of cadherin-1 in a sample]
obsolete_CODAS syndrome	Orphanet_1458
emphysematous cholecystitis	EFO_0007249	[Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues., Cholecystitis resulting from infection by gas producing organisms.]
C-type mannose receptor 2 measurement	EFO_0020204	[The determination of the amount of C-type mannose receptor 2 in a sample]