Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-12771 measurement	EFO_0021332	[Quantification of the amount of X-12771 in a sample.]
X-12749 measurement	EFO_0021331	[Quantification of the amount of X-12749 in a sample.]
quinolinate(1-)	CHEBI_46828	[A carboxypyridinecarboxylate that is the conjugate base of quinolinic acid.]
environmental tobacco smoke exposure measurement	EFO_0008361	[quantification of some aspect of environmental tobacco smoke exposure]
farm exposure measurement	EFO_0008362	[quantification of some aspect of an individual's exposure to a farm environment such as frequeny or duration. Farm exposure may have a beneficial or protective effect against certain conditions such as asthma]
Orofaciodigital syndrome type 2	Orphanet_2751	[Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.]
infant cerebrospinal fluid volume measurement	EFO_0008367	[quantification of the volume of cerebrospinal fluid in an infant's brain]
cerebrospinal fluid	UBERON_0001359	[A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord.]
Orofaciodigital syndrome type 1	Orphanet_2750	[Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.]
infant grey matter volume measurement	EFO_0008368	[quantification of the volume of grey matter in an infant's brain]
infant intracranial volume measurement	EFO_0008369	[quantification of an infant's intracranial volume]
intracranial volume measurement	EFO_0004886	[Is a quantification of intracranial volume.]
pyropoikilocytosis, hereditary	MONDO_0009948	[An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.]
glutathione synthetase deficiency with 5-oxoprolinuria	MONDO_0009947
gamma-linoleic acid measurement	EFO_0008363	[quantification of the amount of gamma-linoleic acid in a sample]
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	MONDO_0009946	[Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.]
generational effect measurement	EFO_0008364	[quantification of the effect of belonging to a specific generation on a genotype effect]
pyridoxine-dependent epilepsy	MONDO_0009945	[A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).]
heart amyloid deposition measurement	EFO_0008365	[quantification of some aspect of the deposition of amyloid proteins in the heart]
IgG isotype profile measurement	EFO_0008366	[quantification of immunoglobulin G in a sample as light chain or heavy chain or kappy type or lambda type]