Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| hepatitis A virus infection | EFO_0007305 | [A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice., Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.] |
| hepatitis D virus infection | EFO_0007304 | [Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact., A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma.] |
| assay by long read sequencer | EFO_0009966 | [An assay which uses long read sequencing technology to determine the sequence of nucleic acids] |
| assay by sequencer | EFO_0003740 | [An assay that exploits a sequencer as the instrument to find results.] |
| long read sequencer | EFO_0009989 | [A sequencing instrument which supports the sequencing of single DNA molecules that are considerably longer than those resulting from traditional short-read sequencing.] |
| ligation-mediated chromosome conformation capture assay | EFO_0009967 | [Chromosome conformation capture assays that involve the cross-linking of chromatin, DNA digestion, and proximity ligation of adjacent fragments.] |
| chromosome conformation capture assay | EFO_0007688 | [Chromosome conformation capture techniques were designed to analyse the 3-dimensional organisation and interaction of chromatin in a cell. This class of techniques always begin with cross-linking of chromatin, to preserve interactions with genomic loci. Next, DNA is fragmented. Traditional chromosome conformation capture techniques rely on a subsequent proximity ligation step, although ligation-free chromosome conformation assays have also been developed.] |
| obsolete_distal monosomy 17q | Orphanet_1597 | |
| ligation-free chromosome conformation capture assay | EFO_0009968 | [Chromosome conformation capture assays that assay the 3-dimensional organization and interaction of chromatin without a proximity ligation step.] |
| Monosomy 18p | Orphanet_1598 | |
| Partial deletion of the short arm of chromosome 18 | Orphanet_261974 | |
| 2-stage Repli-seq | EFO_0009969 | [2-stage repli-seq is a type of repli-seq assay that compares nascent DNA sequencing profiles between two stages, early and late replicating DNA.] |
| Repli-Seq | EFO_0008889 | [Repli-seq is an assay that involves sequencing nascent replicating DNA strands.] |
| Herpes simplex virus keratitis | EFO_0007308 | [A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed), A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness.] |
| Mandibular prognathia | HP_0000303 | [Abnormal prominence of the chin related to increased length of the mandible.] |
| obsolete_apodia, bilateral | Orphanet_295107 | |
| Nematoda | EO_0007337 | [The phylum Nematoda (roundworms) is one of the most common phyla of animals, estimated to contain over a million species. Over 20,000 nematode species have been described, most of them are free-living but many are successful parasites of humans, animals, and plants, causing diseases of major socio-economic importance globally.] |
| Metazoa | NCBITaxon_33208 | [Metazoa or animals are multicellular, eukaryotic organisms] |
| chlorhexidine | CHEBI_3614 | [A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge.] |
| antibacterial drug | CHEBI_36047 |