Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_congenital adrenal hyperplasia	Orphanet_418
obsolete_neonatal severe primary hyperparathyroidism	Orphanet_417
obsolete_Nathalie syndrome	Orphanet_2663
obsolete_primary hyperoxaluria	Orphanet_416
sleep apnea measurement during REM sleep	EFO_0008455	[A pause in breathing or shallow breaths during REM sleep.]
circadian sleep/wake cycle, REM sleep	GO_0042747	[A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity.]
obsolete_Keipert syndrome	Orphanet_2662
Hyperornithinemia-hyperammonemia-homocitrullinuria	Orphanet_415	[Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia.]
sleep apnea measurement during non-REM sleep	EFO_0008456	[A pause in breathing or shallow breaths during non-REM sleep.]
circadian sleep/wake cycle, non-REM sleep	GO_0042748	[All sleep stages in the circadian sleep/wake cycle other than REM sleep. These stages are characterized by a slowing of brain waves and other physiological functions.]
Gyrate atrophy of choroid and retina	Orphanet_414	[Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence.]
cannabis dependence measurement	EFO_0008457	[Quantification of the degree to which an individual is dependent on cannabis, for example based on the number of DSM-IV criteria met for cannabis dependence.]
Hyperlipoproteinemia type 4	Orphanet_413	[A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.]
tacrolimus measurement	EFO_0008458	[Quantification of the amount of tacrolimus in a sample. Tacrolimus (TAC) is a common immunosuppressive agent that potently inhibits T-cell function and proliferation through inhibition of calcineurin by binding to FKB12.]
obsolete_hyperlipoproteinemia type 3	Orphanet_412
activities of daily living score measurement	EFO_0008451	[quantification of ability to perform daily living activities independently. A proxy to assess functional status in the elderly.]
Hyperlipoproteinemia type 1	Orphanet_411
mid-arm muscle circumference measurement	EFO_0008452	[quatification of the muscle circumference of the mid arm. A proxy for muscle mass of the arm.]
calf circumference measurement	EFO_0008453	[quatification of the muscle circumference of the calf. A proxy for muscle mass of the leg.]
short physical performance battery score measurement	EFO_0008454	[quantification of physical performance. A proxy to assess lower extremity function in the elderly.]