Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Naumovozyma	NCBITaxon_278028
lip morphology measurement	EFO_0007845	[quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature]
tumor necrosis factor receptor superfamily member 13B measurement	EFO_0020803	[The determination of the amount of tumor necrosis factor receptor superfamily member 13B in a sample]
Dent disease type 2	MONDO_0010359	[Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.]
Dent disease	MONDO_0015612	[Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.]
forehead morphology measurement	EFO_0007844	[quantification of some aspect of forehead morphology such as forehead profile, forehead height or brow-ridge protrusion]
tumor necrosis factor receptor superfamily member 13C measurement	EFO_0020804	[The determination of the amount of tumor necrosis factor receptor superfamily member 13C in a sample]
nose morphology measurement	EFO_0007843	[quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile]
tumor necrosis factor receptor superfamily member 14 measurement	EFO_0020805	[The determination of the amount of tumor necrosis factor receptor superfamily member 14 in a sample]
Rotor syndrome	MONDO_0009379	[Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.]
hyper-beta-alaninemia	MONDO_0009378	[Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.]
functional brain measurement	EFO_0007849	[quantification of brain function, usually via functional magnetic resonance imaging (MRI), for example using blood-oxygen-level dependent contrast imaging (BOLD), often measured in response to a stimulus such as performing a task or exposure to images, sounds or smells]
neuroimaging measurement	EFO_0004346	[Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan]
hyperammonemia due to N-acetylglutamate synthase deficiency	MONDO_0009377	[N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.]
apolipoprotein A-IV measurement	EFO_0007848	[quantification of serum lipoprotein A-IV. Apolipoprotein A-IV, encoded in humans by the APOA4 gene, a 376-residue mature O-linked glycoprotein.]
tumor necrosis factor receptor superfamily member 11A measurement	EFO_0020800	[The determination of the amount of tumor necrosis factor receptor superfamily member 11A in a sample]
cheekbone morphology measurement	EFO_0007847	[quantification of some aspect of cheekbone morphology such as cheekbone protrusion]
tumor necrosis factor receptor superfamily member 11B measurement	EFO_0020801	[The determination of the amount of tumor necrosis factor receptor superfamily member 11B in a sample]
Leydig cell hypoplasia, type 1	MONDO_0009384	[Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.]
transient familial neonatal hyperbilirubinemia	MONDO_0009383