Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ovarioleukodystrophy	MONDO_0020506
pseudouridine measurement	EFO_0021126	[Quantification of the amount of pseudouridine in a sample.]
ravine syndrome	MONDO_0020505	[Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.]
lathosterol measurement	EFO_0021121	[Quantification of the amount of lathosterol in a sample.]
genetic recurrent myoglobinuria	MONDO_0020504	[Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.]
epiandrosterone sulfate measurement	EFO_0021120	[Quantification of the amount of epiandrosterone sulfate in a sample.]
resistance to thyrotropin-releasing hormone syndrome	MONDO_0020503	[Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.]
Generalized muscle hypertrophy	HP_0003720	[Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.]
7-methylguanine measurement	EFO_0021123	[Quantification of the amount of 7-methylguanine in a sample.]
Waardenburg syndrome type 2	MONDO_0019517	[Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.]
N1-methyladenosine measurement	EFO_0021122	[Quantification of the amount of N1-methyladenosine in a sample.]
exudative vitreoretinopathy	MONDO_0019516	[Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.]
heparin cofactor 2 measurement	EFO_0008150	[quantification of the amount of heparin cofactor 2 in a sample]
obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia	MONDO_0019511
ankle joint	UBERON_0001488	[A joint that connects the hindlimb autopod and zeugopod skeletons.]
hepatitis A virus cellular receptor 2 measurement	EFO_0008151	[quantification of the amount of hepatitis A virus cellular receptor 2 in a sample]
hepatocyte growth factor activator measurement	EFO_0008152	[quantification of the amount of hepatocyte growth factor activator in a sample]
esophageal malformation	MONDO_0019513
digestive tract malformation	MONDO_0020019
hepatocyte growth factor receptor measurement	EFO_0008153	[quantification of the amount of hepatocyte growth factor receptor in a sample]