Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
classic or non-classic genetic disease presentation	MONDO_0100355	[A classic (severe) or non-classic (mild or intermediate) form of a genetic disease.]
non-classic presentation	MONDO_0100357	[A mild or intermediate form of a genetic disease.]
ectodermal dysplasia WNT10A related	MONDO_0100358
obsolete_familial hyperaldosteronism type III	Orphanet_251274
Late-onset primary lymphedema	Orphanet_289825	[Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age.]
piperine	CHEBI_28821	[A N-acylpiperidine that is piperidine substituted by a (1E,3E)-1-(1,3-benzodioxol-5-yl)-5-oxopenta-1,3-dien-5-yl group at the nitrogen atom. It is an alkaloid isolated from the plant Piper nigrum.]
response to heat	GO_0009408	[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 heat stimulus, a temperature stimulus above the optimal temperature for that organism.]
response to cold	GO_0009409	[ 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 cold stimulus, a temperature stimulus below the optimal temperature for that organism. ]
phytosterol	CHEBI_28824
obsolete_benign concentric annular macular dystrophy	Orphanet_251287
Clostridium perfringens	NCBITaxon_1502
Disorder of tryptophan metabolism	Orphanet_289829
mucopolysaccharidosis or mucopolysaccharidosis-like disorder	MONDO_0100365	[Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.]
enol-phenylpyruvate	CHEBI_16815
obsolete_Autosomal dominant spastic ataxia type 1	Orphanet_251282
Clostridium sporogenes	NCBITaxon_1509
2-oxoglutarate(2-)	CHEBI_16810	[An oxo dicarboxylate obtained by deprotonation of both carboxy groups of 2-oxoglutaric acid.]
metabolite role	CHEBI_25212	[Any intermediate or product resulting from metabolism.]
response to water deprivation	GO_0009414	[ 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 water deprivation stimulus, prolonged deprivation of water. ]
response to water stimulus	GO_0009415	[ 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 stimulus reflecting the presence, absence, or concentration of water. ]