Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Huntington disease | MONDO_0007739 | [Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.] |
| acute myeloid leukemia, t(3;5)(q25;q34) | MONDO_0100409 | [Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)] |
| human herpesvirus 7 seropositivity | EFO_0600006 | [human herpesvirus 7 seropositivity is the result of a measurement of circulating human herpesvirus 7 specific antibodies] |
| Melhem-Fahl syndrome | MONDO_0016622 | [Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.] |
| cardiac ablation | EFO_0600009 | [Cardiac or catheter ablation is a minimally invasive procedure used to remove or terminate a faulty electrical pathway from sections of the hearts of those who are prone to developing cardiac arrhythmias such as atrial fibrillation, atrial flutter, SVT and Wolff-Parkinson-White syndrome.] |
| mitochondrial heteroplasmy measurement | EFO_0600008 | [A quantification of the degree of mitochondrial heteroplasmy, i.e. the presence of different mitochondrial DNA variants in different mitochondria within the same individual organism or cell. Heteroplasmy can be inherited through the maternal germ line, or arise through somatic mitochondrial mutations within an individual.] |
| mitochondrial DNA measurement | EFO_0006312 | [quantification of mitochondrial DNA in a sample, usually through genetic amplification of target genes by quantifiative real-time PCR] |
| mitochondrial DNA | EFO_0008480 | [Typically small, circular, intronless, and maternally inherited, mitochondrial DNA (mtDNA) is the multicopy deoxyribonucleic acid genome of mitochondria, intracellular organelles responsible for vital respiratory chain and oxidative phosphorylation reactions in higher eukaryotes. Replicated and transcribed by a separate enzymatic machinery from that of nuclear DNA, mtDNA encodes only a subset of mitochondrial functions.] |
| vitamin C measurement | EFO_0600003 | [Quantification of vitamin C levels in a sample.] |
| retinal layer thickness measurement | EFO_0600002 | [A measure of the thickness of one or more layers of the retina. It is measured with various imaging tools including ultrasound, optical coherence tomography (OCT), confocal microscopy, and biometry. Reduced retinal layer thickness is one of the biomarkers used for the diagnosis of glaucoma.] |
| retina | UBERON_0000966 | [The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.] |
| ganglion cell inner plexiform layer thickness measurement | EFO_0600005 | [A measure of the thickness of the ganglion cell inner plexiform layer (GCIPL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG).] |
| retinal nerve fibre layer thickness measurement | EFO_0600004 | [A measure of the thickness of the retinal nerve fiber layer (RNFL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG).] |
| primary hypertrophic osteoarthropathy | MONDO_0016620 | [A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.] |
| ghrelin measurement | EFO_0600001 | [Quantification of the amount of ghrelin present in a sample.] |
| sortilin measurement | EFO_0600000 | [Quantification of the amount of sortilin in a sample.] |
| high grade malignant neoplasm | MONDO_0020665 | |
| anaerobic pneumonia | MONDO_0004649 | [A pneumonia caused by anaerobic bacteria.] |
| myeloid leukemia | MONDO_0004643 | [A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.] |
| Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis | Orphanet_65288 |