Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
encephalopathy due to prosaposin deficiency	MONDO_0012719	[Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.]
susceptibility to childhood ear infection measurement	EFO_0007904	[quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections]
susceptibility to infectious disease measurement	EFO_0008422
magnesium:calcium ratio	EFO_0007903	[quantification of the ratio of magnesium to calcium in a sample, typically a urine sample, a proxy measure for the differential handling by the renal tubule and excretion of Ca2+ and Mg2+]
calcium measurement	EFO_0004838	[Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation.]
hepcidin:transferrin saturation ratio	EFO_0007902	[quantification of the ratio of hepcidin to transferrin saturation, the amount of iron bound to transferrin, in a sample]
hypotonia with lactic acidemia and hyperammonemia	MONDO_0012718	[This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.]
autosomal recessive bestrophinopathy	MONDO_0012733	[Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).]
SERKAL syndrome	MONDO_0012734	[SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.]
obsolete_Stern-Lubinsky-Durrie syndrome	Orphanet_3194
Contractures of the joints of the lower limbs	HP_0005750
obsolete_supravalvular aortic stenosis	Orphanet_3193
Caenorhabditis remanei	NCBITaxon_31234
Subaortic stenosis - short stature	Orphanet_3191
Mycobacterium bovis BCG	NCBITaxon_33892
Holoprosencephaly - radial heart renal anomalies	Orphanet_3186
Steatocystoma multiplex - natal teeth	Orphanet_3184
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	MONDO_0012726	[Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.]
familial cold autoinflammatory syndrome 2	MONDO_0012724	[An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.]
lipoprotein glomerulopathy	MONDO_0012725