Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked disease	MONDO_0000425	[X-linked form of disease.]
disorder of peroxisomal transporter	MONDO_0100372	[Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.]
genetic dementia	MONDO_0015547	[Genetic dementia.]
adrenal gland disease	EFO_0005539	[An endocrine system disease that is located_in the adrenal gland., A disease involving the adrenal gland.]
neurometabolic disease	MONDO_0019058
leukodystrophy	MONDO_0019046	[Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.]
cholesteryl ester 20:4 measurement	EFO_0010348	[The quantification of cholesteryl ester 20:4 levels in a sample.]
cholesteryl ester measurement	EFO_0010351	[The quantification of cholesteryl ester levels in a sample.]
familial hypoaldosteronism	MONDO_0018541	[Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).]
hypoaldosteronism disease	MONDO_0015900
cholesteryl ester 20:5 measurement	EFO_0010349	[The quantification of cholesteryl ester 20:5 levels in a sample.]
PFAPA syndrome	MONDO_0018540	[An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.]
autoinflammatory syndrome	MONDO_0019751	[A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.]
factor VII activating protease measurement	EFO_0009368	[Quantification of the amount of factor VII activating protease in a blood sample]
lysophosphatidylcholine 16:0 measurement	EFO_0010357	[The quantification of lysophosphatidylcholine 16:0 levels in a sample.]
lysophosphatidylcholine measurement	EFO_0010224	[A quantification of lysophosphatidylcholines.]
GM17117	CLO_0014950	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
diffusing capacity of the lung for carbon monoxide	EFO_0009369	[A measurement of carbon monoxide (CO) transfer from inspired gas to pulmonary capillary blood. During the test, the subject inspires a gas containing CO and one or more tracer gases to allow determination of the gas exchanging capability of the lungs.]
respiratory disease biomarker	EFO_0006841	[The quantitation of a biomarker used in the measurement of lung fuction used in diagnosis or management of a clinical condition.]
pulmonary function measurement	EFO_0003892	[Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.]