Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
adenosine monophosphate measurement	EFO_0010454	[Quantification of adenosine monophosphate levels in a sample.]
atrophoderma vermiculata	MONDO_0008849
keratosis pilaris atrophicans	MONDO_0018855	[An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.]
adipic acid mesurement	EFO_0010455	[Quantification of adipic acid levels in a sample.]
atrioventricular dissociation	MONDO_0008848	[Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.]
infarction	EFO_0009463	[A localised pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion.]
pathologic process	OBI_1110122	[abnormal, harmful processes caused by or associated with a disease, Abnormal, harmful processes caused by or associated with a disease]
adenosine diphosphate measurement	EFO_0010452	[Quantification of adenosine diphosphate levels in a sample.]
atrichia with papular lesions	MONDO_0008847	[Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.]
genetic alopecia	MONDO_0021034	[An instance of alopecia that is caused by a modification of the individual's genome.]
adenosine measurement	EFO_0010453	[Quantification of adenosine levels in a sample.]
atransferrinemia	MONDO_0008846	[Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.]
inherited deficiency anemia	MONDO_0016624
3-phosphoglyceric acid	EFO_0010450	[Quantification of 3-phosphoglyceric acid levels in a sample.]
Löfgren’s syndrome	EFO_0009466	[Acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar lymphadenopathy and polyarthralgia or polyarthritis.]
aconitate measurement	EFO_0010451	[Quantification of aconitate levels in a sample.]
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	MONDO_0008843	[Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.]
epilepsy syndrome	MONDO_0015650
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	MONDO_0008842	[A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.]
ataxia-telangiectasia-like disorder	MONDO_0011457	[An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.]