Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Thiamine-responsive encephalopathy | Orphanet_199348 | |
| Glutathione synthetase deficiency | Orphanet_32 | |
| Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies | Orphanet_98370 | |
| filarial elephantiasis | EFO_0007272 | [A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis., Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.] |
| elephantiasis | EFO_0004711 | [Elephantiasis is a result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the host’s immune response, and the numerous opportunistic infections and disorders that arise., Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.] |
| parasitic eyelid infestation | MONDO_0001812 | |
| obsolete_isovaleric acidemia | Orphanet_33 | |
| fibroepithelial neoplasm | EFO_0007271 | [A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.] |
| Coarse facial features | HP_0000280 | [Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.] |
| femoral cancer | EFO_0007270 | [A bone cancer that is located_in the femur.] |
| obsolete_X-linked corneal dermoid | Orphanet_1661 | [X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of cornea with no other ocular or systemic abnormality.] |
| foot and mouth disease | EFO_0007277 | [A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness., A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness.] |
| Lethal restrictive dermopathy | Orphanet_1662 | [Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely.] |
| follicular dendritic cell sarcoma | EFO_0007276 | [A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.] |
| Epstein-Barr virus-associated mesenchymal tumor | MONDO_0017345 | |
| focal epithelial hyperplasia | EFO_0007275 | [A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity., Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.] |
| obsolete_dermo-odonto dysplasia | Orphanet_1660 | |
| gas gangrene | EFO_0007279 | [A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases., A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis.] |
| bacteriemia | EFO_0003033 | [Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse). Bacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected., An infectious disease caused by bacteria causing sepsis.] |
| infection due to clostridium perfringens | MONDO_0023149 |