Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Absent inner and outer dynein arms	HP_0012259	[Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.]
(+)-alpha-tocopherol	CHEBI_18145	[An alpha-tocopherol that has formula C29H50O2.]
protein kinase C inhibitor	CHEBI_37700
antioxidant	CHEBI_22586	[A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides.]
anticoagulant	CHEBI_50249	[An agent that prevents blood clotting.]
nutraceutical	CHEBI_50733	[A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance.]
antiatherogenic agent	CHEBI_50855
gnathomiasis	EFO_0007289	[A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis., An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).]
Absence of fingerprints - congenital milia	Orphanet_1658
obsolete_dermatoosteolysis, Kirghizian type	Orphanet_1657
Natal teeth - intestinal pseudoobstruction - patent ductus	Orphanet_1654
CD5 antigen-like measurement	EFO_0020248	[The determination of the amount of CD5 antigen-like in a sample]
Müllerian derivatives - lymphangiectasia - polydactyly	Orphanet_1655
CD70 antigen measurement	EFO_0020249	[The determination of the amount of CD70 antigen in a sample]
obsolete_Dent disease	Orphanet_1652	[Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction., An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.]
obsolete_dentin dysplasia	Orphanet_1653
obsolete_propionic acidemia	Orphanet_35
cathepsin L2 measurement	EFO_0020244	[The determination of the amount of cathepsin L2 in a sample]
obsolete_acrocallosal syndrome	Orphanet_36
CD166 antigen measurement	EFO_0020245	[The determination of the amount of CD166 antigen in a sample]