Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_pentasomy X | Orphanet_11 | |
| haemonchiasis | EFO_0007293 | [Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation., A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue.] |
| autoimmune disorder of peripheral nervous system | MONDO_0000590 | [A hypersensitivity reaction type II disease that involves the peripheral nervous system.] |
| obsolete_qualitative or quantitative defects of plectin | Orphanet_209196 | |
| obsolete_congenital myopathy, Paradas type | Orphanet_199329 | |
| Phanerochaete chrysosporium | NCBITaxon_5306 | |
| hemorrhagic fever with renal syndrome | EFO_0007299 | [A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.] |
| hemopericardium | EFO_0007298 | [A pericardial effusion that results from blood in the pericardial sac., An accumulation of blood within the pericardial sac.] |
| pericardial effusion | MONDO_0001370 | [Fluid collection within the pericardial sac, usually due to inflammation.] |
| HELLP syndrome | EFO_0007297 | [A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count., A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.] |
| severe pre-eclampsia | MONDO_0001641 | [Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.] |
| hantavirus pulmonary syndrome | EFO_0007296 | [A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications., An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.] |
| Globozoospermia | HP_0012205 | [Any structural anomaly of the acrosome resulting in a round sperm head.] |
| Abnormal sperm morphology | HP_0012864 | [A structural anomaly of sperm.] |
| N-methyl-N'-nitro-N-nitrosoguanidine | CHEBI_21759 | |
| Hypophthalmichthys | NCBITaxon_7963 | |
| chymase measurement | EFO_0020259 | [The determination of the amount of chymase in a sample] |
| regulation of excretion | GO_0044062 | [Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity.] |
| obsolete_Monosomy 18q | Orphanet_1600 | |
| cystatin-M measurement | EFO_0020299 | [The determination of the amount of cystatin-M in a sample] |