Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_humero-radial synostosis, unilateral	Orphanet_295209
Macrotia	HP_0000400	[Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).]
heterogeneous nuclear ribonucleoprotein q measurement	EFO_0020443	[The determination of the amount of heterogeneous nuclear ribonucleoprotein q in a sample]
heterogeneous nuclear ribonucleoproteins A2/B1 measurement	EFO_0020444	[The determination of the amount of heterogeneous nuclear ribonucleoproteins A2/B1 in a sample]
obsolete_humero-radio-ulnar synostosis, bilateral	Orphanet_295207
Stenosis of the external auditory canal	HP_0000402	[An abnormal narrowing of the external auditory canal.]
high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7a measurement	EFO_0020445	[The determination of the amount of high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7a in a sample]
hepcidin measurement	EFO_0020440	[The determination of the amount of hepcidin in a sample]
heterogeneous nuclear ribonucleoprotein a/b measurement	EFO_0020441	[The determination of the amount of heterogeneous nuclear ribonucleoprotein a/b in a sample]
biosynthetic process	GO_0009058	[ The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. ]
gamma-tocopherol	CHEBI_18185	[A tocopherol that has formula C28H48O2.]
vitamin	CHEBI_33229	[An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines.]
Autosomal dominant spastic paraplegia type 41	Orphanet_320355
rhinosporidiosis	EFO_0007471	[Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi., A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed.]
parasitic Ichthyosporea infectious disease	MONDO_0000307	[A disease caused by infection with Ichthyosporea.]
rhinoscleroma	EFO_0007470	[A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis., A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.]
Klebsiella infectious disease	MONDO_0030603	[Infections with bacteria of the genus KLEBSIELLA.]
Salmonella gastroenteritis	EFO_0007475	[Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply., A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness.]
Roseolovirus infectious disease	EFO_0007474	[A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7., Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.]
Herpesviridae infectious disease	EFO_0007309	[A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses., Virus diseases caused by the herpesviridae.]