Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
soluble gp130 measurement	EFO_0010696	[Quantification of soluble gp130 in a sample. gp130 acts as a natural inhibitor of soluble interleukin-6 receptor.]
Say-field-Coldwell syndrome	MONDO_0008606	[Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.]
total parenteral nutrition	EFO_0010694	[Total parenteral nutrition is described as the artifical administration of nutrients intravenously when oral or tube feeding is inadequate.]
elevated lactate dehydrogenase	EFO_0010695	[Serum lactate dehydrogenase (LDH) is a prognostic and diagnostic marker used to measure tissue breakdown. It is present in numerous disease outcomes, including infections, sepsis and cancerous conditions.]
gliadin seropositivity	EFO_0007049	[gliadim seropositivity is the result of a measurement of circulating antibodies specific to the food antigen gliadin]
human herpesvirus 6 seropositivity	EFO_0007048	[human herpesvirus 6 seropositivity is the result of a measurement of circulating human herpesvirus 6 specific antibodies]
subcutaneous tissue infection	EFO_0010692	[Any infection of the subcutaneous tissue.]
tooth-supporting structures disease	EFO_0010693	[Any disease of the tooth-supporting structures.]
Toxoplasma gondii seropositivity	EFO_0007047	[Toxoplasma gondii seropositivity is the result of a measurement of circulating T. gondii specific antibodies. T. gondii is a parasitic protozoan that causes toxoplasmosis]
renal dialysis	EFO_0010690	[Dialysis is a procedure whereby excess fluid and waste products are removed from the blood to artificially replace the function of the kidneys. There are two types of dialysis: peritoneal dialysis which uses the peritoneal membrane as the filter, or hemodialysis which uses an artifical machine to filter the blood.]
retroperitoneal infection	EFO_0010691	[Any infection of the retroperitoneum.]
Cholestasis-lymphedema syndrome	Orphanet_1414	[Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life.]
obsolete_tarsal-carpal coalition syndrome	Orphanet_1412
enterocele	EFO_0020006	[A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall.]
prolapse of female genital organ	MONDO_0001592
X-21467 measurement	EFO_0020007	[Quantification of X-21467 levels in a sample.]
obsolete_uncombable hair syndrome	Orphanet_1410
campesterol measurement	EFO_0020008	[Quantification of the campesterol levels in a sample. Campesterol is a phytosterol (molecular formula C28H48O) whose chemical structure is similar to that of cholesterol.]
ethylmalonate measurement	EFO_0020009	[Quantification of ethylmalonate levels in a sample.]
lack of efficacy	EFO_0020002	[Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.]