Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
junctional epidermolysis bullosa, non-Herlitz type	MONDO_0009180	[Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.]
46,XY partial gonadal dysgenesis	MONDO_0016674	[46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.]
46,XY disorder of gonadal development	MONDO_0017966
Rabies virus	NCBITaxon_11292
distal arthrogryposis type 10	MONDO_0016675
distal arthrogryposis	MONDO_0019942	[A muscle tissue disease characterized by congenital joint contractures of hand and feet.]
complement factor H-related protein 1 measurement	EFO_0600054	[Quantification of the amount of complement factor H-related protein 1 in a sample.]
maternal riboflavin deficiency	MONDO_0014013
ariboflavinosis	MONDO_0004573	[A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)]
disorder of other vitamins and cofactors metabolism and transport	MONDO_0017760
Charcot-Marie-Tooth disease axonal type 2Q	MONDO_0014012	[Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.]
Charcot-Marie-Tooth disease type 2	MONDO_0018993	[A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.]
complement factor H-related protein 3 measurement	EFO_0600056	[Quantification of the amount of complement factor H-related protein 3 in a sample.]
sickle cell-hemoglobin d disease syndrome	MONDO_0016670
complement factor H-related protein 2 measurement	EFO_0600055	[Quantification of the amount of complement factor H-related protein 2 in a sample.]
sickle cell-hemoglobin E disease syndrome	MONDO_0016671
plasma leucine rich alpha-2-glycoprotein 1 measurement	EFO_0600050	[Quantification of the levels of leucine rich alpha-2-glycoprotein 1 present in a sample.]
inflammatory biomarker measurement	EFO_0004872	[Is a quantification of any molecule involved in the process of inflammatory response.]
response to varenicline	EFO_0600052	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of varenicline, a nicotinic acetylcholine receptor agonist used as a smoking cessation agent. Varenicline is also used for the treatment of dry eye disease.]
response to smoking cessation agent	EFO_0600051	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a smoking cessation agent. These include nicotine replacement therapy (NRT) agents that are available as nicotine patches, gums, lozenges or inhalers and nicotinic receptor antagonists such as varenicline and buproprion.]