Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| bile duct cancer | MONDO_0003059 | [A malignant neoplasm involving the bile duct] |
| obsolete_severe early-childhood-onset retinal dystrophy | Orphanet_364055 | |
| dengue disease | EFO_0005547 | [Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)., A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding.] |
| heart-hand syndrome, Slovenian type | MONDO_0012417 | [A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.] |
| diphtheria | EFO_0005549 | [A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys., A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.] |
| diaphragmatic hernia 3 | MONDO_0012431 | [Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.] |
| neonatal diabetes mellitus with congenital hypothyroidism | MONDO_0012436 | [A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others] |
| 3-methylglutaconic aciduria type 5 | MONDO_0012435 | [A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.] |
| short QT syndrome | MONDO_0000453 | [A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified] |
| antipyretic | CHEBI_35493 | [A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever.] |
| angioedema | EFO_0005532 | [Condition similar to urticaria but with swelling occuring in a lower layer of the dermis as well as in the subcutis., Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.] |
| Trypanosoma cruzi seropositivity | EFO_0005530 | [Trypanosoma cruzi seropositivity is the result of a measurement of circulating T. cruzi specific antibodies ] |
| cone dystrophy | MONDO_0000455 | [An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.] |
| specimen vial | EFO_0005535 | [A vial is a unique aliquot of biological material e.g. iPSC.] |
| nitric oxide exhalation measurement | EFO_0005536 | [Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy.] |
| delayed encephalopathy after acute carbon monoxide poisoning | EFO_0005534 | [anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event, Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event] |
| Xanthomonas oryzae pv. oryzae KACC10331 | NCBITaxon_291331 | |
| obsolete_infantile epileptic-dyskinetic encephalopathy | Orphanet_364063 | |
| thrombin generation potential measurement | EFO_0005538 | [quantification of the capacity of a given individual to generate thrombin, measured in plasma and shown to associate with thrombotic disorders] |
| vertical myoseptum | UBERON_2000610 | [Connective tissue partitions developing between the myotomes. Kimmel et al, 1995.] |