Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
non-acquired pituitary hormone deficiency	MONDO_0019824
isolated asymptomatic elevation of creatine phosphokinase	MONDO_0016103	[Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.]
caveolinopathy	MONDO_0016146	[A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals]
qualitative or quantitative defects of dystrophin	MONDO_0016147
microcephalic primordial dwarfism due to RTTN deficiency	MONDO_0018764	[Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.]
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	MONDO_0018760
hyperuricemia	EFO_0009104	[An abnormally high level of uric acid.]
high altitude adaptation	EFO_0009105	[Evolutionary modification in certain human populations who have acquired the ability to survive at extremely high altitudes. This adaptation means irreversible, long-term physiological responses to high-altitude environments, associated with heritable behavioural and genetic changes.]
nucleic acid amplification	EFO_0009107
social domain measurement	EFO_0009100	[A measurement of some aspect of psychological systems for social processes e.g. those that mediate responses in interpersonal settings of various types, including perception and interpretation of others’ actions. Based on the NIH NIMH's research domain criteria (RDoC). https://www.nimh.nih.gov/research-priorities/rdoc/definitions-of-the-rdoc-domains-and-constructs.shtml]
thyroiditis	MONDO_0004126	[Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.]
age at first birth measurement	EFO_0009101	[A measurement of the age at which a woman gave birth to her first live child]
number of children ever born measurement	EFO_0009102	[A measurement of the number of children born]
N-methylproline	CHEBI_90344	[An L-proline derivative obtained by replacement of the amino hydrogen by a methyl group.]
theory of mind measurement	EFO_0009103	[Quantification of theory of mind ability, defined as the ability to attribute mental states to one self and others and to use such mental state attribution to make sense of behaviour and predict it. Theory of mind can be quantified using the Emotional Triangles Task test ("Triangles task").]
pneumococcal infection	EFO_0000772	[Infections with bacteria of the species streptococcus pneumoniae., Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.]
temporal lobe epilepsy	EFO_0000773	[A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH)., A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321), A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)]
familial partial epilepsy	MONDO_0017704	[An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.]
fluorescence-activated cell sorting	EFO_0009108	[A flow cytometry assay that provides a method for sorting a heterogeneous mixture of biological cells into two or more containers, one cell at a time, based upon the specific light scattering and fluorescent characteristics of each cell. The cells are suspended in a stream of fluid and forced individually through a vibrating nozzle, then exposed to a laser beam and the resulting fluorescence and scattered light is detected. Finally the cells are sorted by applying an electrical charge to droplets of the fluid and deflecting it to the left or right using charged electrodes.]
isolation of cell population	OBI_0000512	[a process in which a population of cells with certain characteristics is isolated from a larger population, A method to separate a single cell suspension into individual cells in order to allow individual cell barcoding.]