Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	MONDO_0100095	[Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.]
obsolete_facioscapulohumeral muscular dystrophy	EFO_0000491	[An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)]
obsolete_familial combined hyperlipidemia	EFO_0000492	[A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.]
feature extraction	EFO_0000494	[The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification]
obsolete_parietal foramina with cleidocranial dysplasia	Orphanet_251290
fetal growth restriction	EFO_0000495	[A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.]
Genetic cerebrovascular dementia	Orphanet_371439
Genetic neurovascular malformation	Orphanet_371436
thyroid adenoma	MONDO_0002454	[A adenoma that involves the thyroid gland.]
obsolete_pigmented paravenous retinochoroidal atrophy	Orphanet_251295
oseltamivir	CHEBI_7798	[A cyclohexenecarboxylate ester that has formula C16H28N2O4.]
antiviral	CHEBI_22587
flutamide	CHEBI_5132
cholesterol	CHEBI_16113	[A cholestanoid that has formula C27H46O., Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI), The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.]
lipoprotein	EFO_0003836	[Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.]
event death	EFO_0000480	[An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism.]
obsolete_event distant metastases	EFO_0000481	[A temporal measurement of an occurrence of a metastasis measured from some defined time point such as diagnosis]
survival time	EFO_0000714	[Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease.]
exercise	EFO_0000483	[Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness.]
obsolete_experiment type	EFO_0000484	[An experiment type is an experimental factor describing the area of technology that was used to perform an experiment.]