Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
catalase measurement	EFO_0008071	[quantification of the amount of catalase in a sample]
neuromuscular disease and ocular or auditory anomalies with or without seizures	MONDO_0032890
cathepsin B measurement	EFO_0008072	[quantification of the amount of cathepsin B in a sample]
aneurysm, intracranial berry, 12	MONDO_0032891
obsolete_carnitine-acylcarnitine translocase deficiency	Orphanet_159
CD209 antigen measurement	EFO_0008077	[quantification of the amount of CD209 antigen in a sample]
Poirier-Bienvenu neurodevelopmental syndrome	MONDO_0032889
Systemic primary carnitine deficiency	Orphanet_158	[Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.]
CD27 antigen measurement	EFO_0008078	[quantification of the amount of CD27 antigen in a sample]
obsolete_carnitine palmitoyltransferase II deficiency	Orphanet_157
cell adhesion molecule-related/down-regulated by oncogenes measurement	EFO_0008079	[quantification of the amount of cell adhesion molecule-related/down-regulated by oncogenes in a sample]
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	MONDO_0032887
obsolete_carnitine palmitoyl transferase 1A deficiency	Orphanet_156
neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	MONDO_0032888
hypnic headache	MONDO_0017181	[Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.]
obsolete_familial isolated dilated cardiomyopathy	Orphanet_154
3-dehydrocarnitine measurement	EFO_0021037	[Quantification of the amount of 3-dehydrocarnitine in a sample.]
taurolithocholate 3-sulfate measurement	EFO_0021036	[Quantification of the amount of taurolithocholate 3-sulfate in a sample.]
decanoylcarnitine measurement	EFO_0021039	[Quantification of the amount of decanoylcarnitine in a sample.]
acetylcarnitine measurement	EFO_0021038	[Quantification of the amount of acetylcarnitine in a sample.]