Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
arteriosclerosis	EFO_0009086	[A vascular disorder characterized by thickening and hardening of the walls of the arteries. [ NCI ]]
non-typhoidal Salmonella bacteremia	EFO_0009087	[The presence of Salmonella bacteria (of the non-typhoidal type) in the blood.]
dissociation protocol	EFO_0009088	[Describes the procedure by which a biological specimen is dissociated into individual cells or a cell suspension]
Cole-Carpenter syndrome	MONDO_0016085	[An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).]
Pilomatrixoma	EFO_0009082	[Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms)., Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.]
hair follicle neoplasm	MONDO_0003413	[A benign or malignant neoplasm arising from the hair follicle.]
absent or delayed speech development	EFO_0009083	[Speech development, referring to the process of making sounds, that is absent or significantly behind developmental milestones.]
progressive non-infectious anterior vertebral fusion	MONDO_0016087	[Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.]
Endarteritis	EFO_0009084	[Inflammation of the arterial intima. [ NCI ]]
hypoxanthine-guanine phosphoribosyltransferase deficiency	MONDO_0016088	[Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.]
vitamin B12- and folate-independent constitutional megaloblastic anemia	MONDO_0020112
p-value	OBI_0001442	[A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant., A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant. To compute q-values, it is necessary to know the p-value produced by a test and possibly set a false discovery rate level.]
quantitative confidence value	OBI_0000071	[A data item which is used to indicate the degree of uncertainty about a measurement.]
FLOTCH syndrome	MONDO_0016083	[FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.]
flower bud	PO_0000056	[A bud that develops into a flower.]
bud	PO_0000055	[An undeveloped shoot system (PO:0009006).]
dentures	EFO_0010078	[Dentures (also known as false teeth) are prosthetic devices constructed to replace missing teeth, and are supported by the surrounding soft and hard tissues of the oral cavity. Conventional dentures are removable (removable partial denture or complete denture). However, there are many denture designs, some which rely on bonding or clasping onto teeth or dental implants (fixed prosthodontics).]
enrichment protocol	EFO_0009089	[Describes the procedure by which the concentration of an entity of interest in a sample is increased.]
corneal endothelial cell measurement	EFO_0010079	[Quantification of some aspect of corneal endothelial cells, such as their size, shape or density.]
corneal endothelium	UBERON_0001985	[A monolayer of specialized, flattened, mitochondria-rich cells that lines the posterior surface of the cornea and faces the anterior chamber of the eye[WP].]