Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hypochromic anemia	MONDO_0001357	[Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.]
complex sleep apnea	MONDO_0024358	[A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.]
obstructive sleep apnea	EFO_0003918	[Cessation of air flow during sleep due to upper airway obstruction., A disorder characterized by recurrent episodic disruptions of breathing during sleep. It is caused by the intermittent relaxation of pharyngeal muscles leading to the narrowing or complete blockage of the upper airway. This results in compensatory arousal from sleep to breathe again. An anatomically narrow airway from body habitus or enlarged pharyngeal structures may also predispose to obstruction. Clinical presentation usually includes snoring, daytime sleepiness, difficulty concentrating and fatigue. Clinical course may progress to chronic hypoxemia with cardiovascular and cerebrovascular sequelae., A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)]
atelosteogenesis	MONDO_0000389
bone carcinoma	MONDO_0002415	[A carcinoma that involves the bone element.]
nasal cavity and paranasal sinus carcinoma	MONDO_0056819	[A carcinoma arising from the nasal cavity or paranasal sinuses.]
paranasal sinus cancer	MONDO_0020669	[A primary or metastatic malignant neoplasm involving the paranasal sinuses.]
obsolete familial pityriasis rubra pilaris	MONDO_0024351
benign reproductive system neoplasm	MONDO_0000383	[A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.]
Focal epilepsy - intellectual disability - cerebro-cerebellar malformation	Orphanet_352587
obsolete_familial infantile myoclonic epilepsy	Orphanet_352582
interleukin-2 (Mus musculus)	EFO_0003292
interleukin	EFO_0004100	[An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses.]
listeriolysin	EFO_0003294
interleukin-4 (Homo sapiens)	EFO_0003296
epidermal growth factor	EFO_0003298
vitelliform macular dystrophy	MONDO_0000390	[A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.]
osteosclerosis-ichthyosis-premature ovarian failure syndrome	MONDO_0012387	[This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.]
obsolete_progressive myoclonic epilepsy with dystonia	Orphanet_352596
hyperinsulinism due to INSR deficiency	MONDO_0012381	[Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.]