Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked cerebellar ataxia	MONDO_0016612	[X-linked form of cerebellar ataxia.]
triacylglycerol 54:4 measurement	EFO_0010422	[The quantification of triacylglycerol 54:4 levels in some body fluid, used as a biomarker for disease.]
offspring mortality measurement	EFO_0009437	[Quantification of some aspect of the death of an individual's offspring, e.g. the number of children dying before a given age.]
neuralgia	EFO_0009430	[Intense painful sensation along a nerve or group of nerves. It is caused by irritation or trauma to a nerve or inflammation of a nerve., A pain disorder characterize by pain in the distribution of a nerve or nerves]
triacylglycerol 54:2 measurement	EFO_0010420	[The quantification of triacylglycerol 54:2 levels in some body fluid, used as a biomarker for disease.]
Giardia intestinalis	NCBITaxon_5741
shell of nucleus accumbens	UBERON_0012171	[Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell.]
fibroblastic disorder	EFO_0009432	[A disorder that affects fibroblasts.]
Desulfovibrio halophilus	NCBITaxon_45629
right atrial isomerism	MONDO_0008832	[A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.]
visceral heterotaxy	MONDO_0018677	[A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.]
American	HANCESTRO_0463
undefined ancestry population	HANCESTRO_0566	[Population for which insufficient information is available to allocate it to a specific ancestral group or which contain individuals from a range of known ancestry categories, eg American]
United States	United_States
aspartylglucosaminuria	MONDO_0008830	[Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).]
lysosomal storage disease with skeletal involvement	MONDO_0800088
oligosaccharidosis	MONDO_0019251
British	HANCESTRO_0462
United Kingdom	United_Kingdom
number of pregnancies measurement	EFO_0009438	[Quantification of the number of pregnancies a woman has]