Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lactate measurement	EFO_0007745	[quantification of lactate in a sample]
citrate change measurement	EFO_0020883	[Quantification of the change in citrate levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
alanine change measurement	EFO_0020884	[Quantification of the change in alanine levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
glutamine change measurement	EFO_0020885	[Quantification of the change in glutamine levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
polyunsaturated fatty acid change measurement	EFO_0020880	[Quantification of the change in polyunsaturated fatty acid levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
obsolete_inherited non-syndromic ichthyosis	Orphanet_281082
glucose change measurement	EFO_0020881	[Quantification of the change in glucose levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
gene	SO_0000704	[A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions.]
obsolete_inherited ichthyosis syndromic form	Orphanet_281085
Xylella fastidiosa Temecula1	NCBITaxon_183190
orthostatic hypotension	EFO_0005252	[Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.]
hypotension	EFO_0005251	[Blood pressure that is abnormally low.]
Dermato-cardio-skeletal syndrome, Borrone type	Orphanet_1266	[Dermatocardioskeletal syndrome, Borrone type, is a malformation syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported at around puberty. With age and the progression of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported.]
postprandial hypotension	EFO_0005253	[Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines., drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines ]
obsolete_Boomerang dysplasia	Orphanet_1263	[Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones.]
occupation-related stress disorder	EFO_0005250	[The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.]
obsolete_tricho-retino-dento-digital syndrome	Orphanet_1264
obsolete_Bonnemann-Meinecke-Reich syndrome	Orphanet_1261	[Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.]
obsolete_Böök syndrome	Orphanet_1262	[Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.]
response to anthracycline-based chemotherapy	EFO_0005257	[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 anthracycline-based chemotherapy stimulus.]