Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
carotene metabolic process	GO_0016119	[The chemical reactions and pathways involving carotenes, hydrocarbon carotenoids.]
cortical opacity measurement	EFO_0005608	[A measure of cortical opacity used in the diagnosis of cataract.]
craniofacial dysplasia - osteopenia syndrome	MONDO_0012634
COG8-CDG	MONDO_0012635	[The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.]
benign vaginal neoplasm	MONDO_0000647	[A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.]
Paralysis	HP_0003470	[Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.]
morphine dependence	EFO_0005612	[Strong dependence, both physiological and emotional, upon morphine.]
coronary artery raised atherosclerotic lesion	EFO_0005616	[An atherosclerotic abnormality of the coronary artery used as a container term for fibrous plaques, complicated lesions, and calcified lesions., coronary artery raised lesion]
thoracic aortic fatty streak	EFO_0005617	[A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques]
prostate cancer staging	EFO_0005615	[A classification of prostate cancer stage e.g. Gleason grade finding]
cortical dysplasia-focal epilepsy syndrome	MONDO_0012400	[An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.]
dissection protocol	EFO_0005519	[Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues., describes the procedure for dissection.]
congenital stromal corneal dystrophy	MONDO_0012401	[Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.]
obsolete_trisomy 18	Orphanet_3380
obsolete_trisomy 13	Orphanet_3378
Trismus - pseudocamptodactyly	Orphanet_3377
obsolete_triploidy	Orphanet_3376
obsolete_trisomy X	Orphanet_3375
conversion protocol	EFO_0005520	[Describes the conversion of samples (e.g. RNA samples) to another form (e.g. complementary DNA) with no prior dedicated extraction step of the former form, and no labeling of the converted product with chemical tags or dyes during the process. Other examples of such conversions are bisulphite conversion for DNA methylation analysis, various RNA modifications prior to immunoprecipitation.]
sex-linked disease	MONDO_0020606