Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| aortic valve disease | EFO_0009531 | [A disease involving the aortic valve.] |
| 3-phosphoglycerate(3-) | CHEBI_57998 | [Trianion of 3-phosphoglyceric acid arising from deprotonation of the carboxy and phosphate groups; major species at pH 7.3.] |
| anterolateral myocardial infarction | EFO_1000812 | [MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction., Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.] |
| myocardial infarction | EFO_0000612 | [NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)., Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.] |
| Generalized epilepsy - paroxysmal dyskinesia | Orphanet_79137 | |
| Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes | Orphanet_166475 | |
| Channelopathy with epilepsy | Orphanet_182083 | |
| anthracosilicosis | EFO_1000813 | [A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung., Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.] |
| obsolete_episodic ataxia type 4 | Orphanet_79136 | |
| anterior spinal artery syndrome | EFO_1000810 | [Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50), Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)] |
| arterial disorder | MONDO_0000473 | [An impairment of the structure or function of the blood vessels which carry blood away from the heart.] |
| cerebrovascular disorder | EFO_0003763 | [A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others., A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.] |
| anterior uveitis | EFO_1000811 | [Inflammation of the iris and anterior chamber of the eye., Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced.] |
| uveitis | EFO_1001231 | [An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision., inflammation of one or all portions of the uveal tract] |
| triacylglycerol 50:2 measurement | EFO_0010409 | [The quantification of triacylglycerol 50:2 levels in some body fluid, used as a biomarker for disease.] |
| triglyceride measurement | EFO_0004530 | [A triglyceride measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease.] |
| obsolete_focal facial dermal dysplasia type I | Orphanet_79133 | |
| prefrontal cortex | UBERON_0000451 | [The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia.] |
| frontal cortex | UBERON_0001870 | [Anterior portion of the neocortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally[NIFSTD,modified].] |
| Sparse hair - short stature - skin anomalies | Orphanet_79132 |