Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
formate measurement	EFO_0010991	[Quantification of formate in a sample.]
listeriosis	EFO_0007347	[A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy., A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.]
Ketonuria	HP_0002919	[High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.]
hippurate measurement	EFO_0010992	[Quantification of hippurate in a sample.]
lipoatrophic diabetes	EFO_0007346	[A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism., A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes.]
lipid pneumonia	EFO_0007345	[An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent., Pneumonia due to aspiration or inhalation of various oily or fatty substances.]
Pneumonia, Aspiration	EFO_1001399	[Inflammation of the lungs due to the inhalation of solid or liquid material., A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT.]
dimethylamine measurement	EFO_0010990	[Quantification of dimethylamine in a sample.]
leptospirosis	EFO_0007344	[A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure., A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly.]
Abnormality of chromosome segregation	HP_0002916	[An abnormality of chromosome segregation.]
African	HANCESTRO_0010	[Includes individuals that either self-report or have been described as African, but there was not sufficient information to allow classification as African American, AfroCaribbean or Sub-Saharan African.]
cytoplasmic protein NCK1 measurement	EFO_0020307	[The determination of the amount of cytoplasmic protein NCK1 in a sample]
cytoplasmic tyrosine-protein kinase BMX measurement	EFO_0020308	[The determination of the amount of cytoplasmic tyrosine-protein kinase BMX in a sample]
lumpy skin disease	EFO_0007349	[A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy., A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.]
cytoskeleton-associated protein 2 measurement	EFO_0020309	[The determination of the amount of cytoskeleton-associated protein 2 in a sample]
Hypomagnesemia	HP_0002917	[An abnormally decreased magnesium concentration in the blood.]
Sub-Saharan African	HANCESTRO_0011	[Includes individuals who either self-report or have been described by authors as SubSaharan African or one of the subpopulations from this region (e.g. Yoruban). This category also includes individuals who genetically cluster with reference populations from this region for example 1000 Genomes and/or HapMap ESN, LWK, GWD, MSL, MKK and YRI populations.]
louping ill	EFO_0007348	[A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs., An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.]
tick-borne infectious disease	MONDO_0025294	[Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.]
Cutis gyrata - acanthosis nigricans - craniosynostosis	Orphanet_1555	[Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability.]