Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
wap, kazal, immunoglobulin, kunitz and ntr domain-containing protein 1 measurement	EFO_0020852	[The determination of the amount of wap, kazal, immunoglobulin, kunitz and ntr domain-containing protein 1 in a sample]
Oscheius myriophila	NCBITaxon_281680
Patellar hypoplasia	HP_0003065	[Underdevelopment of the patella.]
obsolete_qualitative or quantitative defects of perlecan	Orphanet_207101
microbiome measurement	EFO_0007882	[quantification of some aspect of an individual's microbiome]
microbiome	EFO_0004982	[A collection or collectivity of microorganisms.]
Branchio-skeleto-genital syndrome	Orphanet_1299	[Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.]
job-related exhaustion measurement	EFO_0007881	[quantification of some aspect of job-related exhaustion such as severity or duration]
obsolete_Lambert syndrome	Orphanet_1296	[Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.]
response to dendritic cell-based immunotherapy	EFO_0007880	[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 vaccination treatment with dendritic cell-based immunotherapy. Dendritic cells (DCs) play a crucial role in the induction of antigen-specific T-cell responses, and their use for the active immunotherapy of malignancies and HIV is showing promising results.]
Branchio-oculo-facial syndrome	Orphanet_1297	[Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.]
acute stress reaction	EFO_0005223	[An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.]
DDT metabolite measurement	EFO_0007886	[quantification in a sample of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) or any metabolite derived from DDT, eg 2, 2-bis (4-chlorophenyl)-1, 1-dichloroethene (p,p′-DDE)]
organochlorine pesticide measurement	EFO_0007960	[quantification of organochlorine pesticides or metabolites derived from organochloride pesticides in a sample]
Brachytelephalangy - dysmorphism - Kallmann syndrome	Orphanet_1295
JT interval	EFO_0007885	[measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the QT interval and duration of the QRS interval]
Q fever	EFO_0005224	[ bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness., A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.]
Coxiella burnetii	NCBITaxon_777
Brachymorphism - onychodysplasia - dysphalangism	Orphanet_1292	[Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.]
functional microbiome measurement	EFO_0007884	[quantification of the functional variation in a microbiome]